Chr	Start	End	Ref	Alt	Func.refGene	Gene.refGene	GeneDetail.refGene	ExonicFunc.refGene	AAChange.refGene	Xref.refGene	NC_fgh	WT_fgh	HZ_fgh	HH_fgh	Other_fgh	FGH_1522	FGH_MAF	dbscSNV_ADA_SCORE	dbscSNV_RF_SCORE	Maybe_Pathogenic	CLNALLELEID	CLNDN	CLNDISDB	CLNREVSTAT	CLNSIG	ONCDN	ONCDISDB	ONCREVSTAT	ONC	SCIDN	SCIDISDB	SCIREVSTAT	SCI	REVEL	MCAP	esp6500siv2_all	1000g2015aug_all	ExAC_ALL	ExAC_AFR	ExAC_AMR	ExAC_EAS	ExAC_FIN	ExAC_NFE	ExAC_OTH	ExAC_SAS	Kaviar_AF	Kaviar_AC	Kaviar_AN	avsnp151	gnomad41_exome_AF	gnomad41_exome_AF_raw	gnomad41_exome_AF_XX	gnomad41_exome_AF_XY	gnomad41_exome_AF_grpmax	gnomad41_exome_faf95	gnomad41_exome_faf99	gnomad41_exome_fafmax_faf95_max	gnomad41_exome_fafmax_faf99_max	gnomad41_exome_AF_afr	gnomad41_exome_AF_amr	gnomad41_exome_AF_asj	gnomad41_exome_AF_eas	gnomad41_exome_AF_fin	gnomad41_exome_AF_mid	gnomad41_exome_AF_nfe	gnomad41_exome_AF_remaining	gnomad41_exome_AF_sas	gnomad41_genome_AF	gnomad41_genome_AF_raw	gnomad41_genome_AF_XX	gnomad41_genome_AF_XY	gnomad41_genome_AF_grpmax	gnomad41_genome_faf95	gnomad41_genome_faf99	gnomad41_genome_fafmax_faf95_max	gnomad41_genome_fafmax_faf99_max	gnomad41_genome_AF_afr	gnomad41_genome_AF_ami	gnomad41_genome_AF_amr	gnomad41_genome_AF_asj	gnomad41_genome_AF_eas	gnomad41_genome_AF_fin	gnomad41_genome_AF_mid	gnomad41_genome_AF_nfe	gnomad41_genome_AF_remaining	gnomad41_genome_AF_sas	SIFT_score	SIFT_converted_rankscore	SIFT_pred	SIFT4G_score	SIFT4G_converted_rankscore	SIFT4G_pred	Polyphen2_HDIV_score	Polyphen2_HDIV_rankscore	Polyphen2_HDIV_pred	Polyphen2_HVAR_score	Polyphen2_HVAR_rankscore	Polyphen2_HVAR_pred	LRT_score	LRT_converted_rankscore	LRT_pred	LRT_Omega	MutationTaster_score	MutationTaster_converted_rankscore	MutationTaster_pred	MutationAssessor_score	MutationAssessor_rankscore	MutationAssessor_pred	FATHMM_score	FATHMM_converted_rankscore	FATHMM_pred	PROVEAN_score	PROVEAN_converted_rankscore	PROVEAN_pred	VEST4_score	VEST4_rankscore	MetaSVM_score	MetaSVM_rankscore	MetaSVM_pred	MetaLR_score	MetaLR_rankscore	MetaLR_pred	Reliability_index	MetaRNN_score	MetaRNN_rankscore	MetaRNN_pred	M-CAP_score	M-CAP_rankscore	M-CAP_pred	REVEL_score	REVEL_rankscore	MutPred_score	MutPred_rankscore	MVP_score	MVP_rankscore	gMVP_score	gMVP_rankscore	MPC_score	MPC_rankscore	PrimateAI_score	PrimateAI_rankscore	PrimateAI_pred	DEOGEN2_score	DEOGEN2_rankscore	DEOGEN2_pred	BayesDel_addAF_score	BayesDel_addAF_rankscore	BayesDel_addAF_pred	BayesDel_noAF_score	BayesDel_noAF_rankscore	BayesDel_noAF_pred	ClinPred_score	ClinPred_rankscore	ClinPred_pred	LIST-S2_score	LIST-S2_rankscore	LIST-S2_pred	VARITY_R_score	VARITY_R_rankscore	VARITY_ER_score	VARITY_ER_rankscore	VARITY_R_LOO_score	VARITY_R_LOO_rankscore	VARITY_ER_LOO_score	VARITY_ER_LOO_rankscore	ESM1b_score	ESM1b_rankscore	ESM1b_pred	EVE_score	EVE_rankscore	AlphaMissense_score	AlphaMissense_rankscore	AlphaMissense_pred	Aloft_pred	Aloft_Confidence	CADD_raw	CADD_raw_rankscore	CADD_phred	DANN_score	DANN_rankscore	fathmm-MKL_coding_score	fathmm-MKL_coding_rankscore	fathmm-MKL_coding_pred	fathmm-MKL_coding_group	fathmm-XF_coding_score	fathmm-XF_coding_rankscore	fathmm-XF_coding_pred	Eigen-raw_coding	Eigen-raw_coding_rankscore	Eigen-phred_coding	Eigen-PC-raw_coding	Eigen-PC-raw_coding_rankscore	Eigen-PC-phred_coding	GenoCanyon_score	GenoCanyon_rankscore	integrated_fitCons_score	integrated_fitCons_rankscore	integrated_confidence_value	GM12878_fitCons_score	GM12878_fitCons_rankscore	GM12878_confidence_value	H1-hESC_fitCons_score	H1-hESC_fitCons_rankscore	H1-hESC_confidence_value	HUVEC_fitCons_score	HUVEC_fitCons_rankscore	HUVEC_confidence_value	LINSIGHT	LINSIGHT_rankscore	GERP++_NR	GERP++_RS	GERP++_RS_rankscore	phyloP100way_vertebrate	phyloP100way_vertebrate_rankscore	phyloP470way_mammalian	phyloP470way_mammalian_rankscore	phyloP17way_primate	phyloP17way_primate_rankscore	phastCons100way_vertebrate	phastCons100way_vertebrate_rankscore	phastCons470way_mammalian	phastCons470way_mammalian_rankscore	phastCons17way_primate	phastCons17way_primate_rankscore	SiPhy_29way_pi	SiPhy_29way_logOdds	SiPhy_29way_logOdds_rankscore	bStatistic	bStatistic_converted_rankscore	Interpro_domain	GTEx_V8_eQTL_gene	GTEx_V8_eQTL_tissue	GTEx_V8_sQTL_gene	GTEx_V8_sQTL_tissue	eQTLGen_snp_id	InterVar_automated	PVS1	PS1	PS2	PS3	PS4	PM1	PM2	PM3	PM4	PM5	PM6	PP1	PP2	PP3	PP4	PP5	BA1	BS1	BS2	BS3	BS4	BP1	BP2	BP3	BP4	BP5	BP6	BP7	GME_AF	GME_NWA	GME_NEA	GME_AP	GME_Israel	GME_SD	GME_TP	GME_CA	Otherinfo1	Otherinfo2	Otherinfo3	Otherinfo4	Otherinfo5	Otherinfo6	Otherinfo7	Otherinfo8	Otherinfo9	Otherinfo10	Otherinfo11	Otherinfo12	NSWES985	WT	HH	HZ	NC
chr1	930204	930204	G	A	exonic	SAMD11	.	nonsynonymous SNV	SAMD11:NM_001385640:exon3:c.G659A:p.R220Q,SAMD11:NM_001385641:exon3:c.G659A:p.R220Q,SAMD11:NM_152486:exon3:c.G122A:p.R41Q	.	391	1129	2	0	0	2	0.000884956	.	.	.	1153702	not_provided|SAMD11-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.208	.	0.0108	0.0109824	0.0059	0.0453	0.0045	0	0	0.0005	0	0.0002	0.0020957	324	154602	rs148711625	0.0009	0.0009	0.0011	0.0008	0.0334	0.0009	0.0009	0.0317	0.0311	0.0334	0.0021	0	2.666e-05	0	0.0014	4.308e-05	0.0019	8.633e-05	0.0085	0.0085	0.0085	0.0085	0.0294	0.0081	0.0080	0.0281	0.0275	0.0294	0	0.0037	0	0	0	0.0034	8.82e-05	0.0052	0	0.017	0.72154	D	0.099	0.57104	T	1.0	0.90584	D	0.886	0.62898	P	0.000048	0.53742	D	0.000000	0.999822	0.49512	D	2.25	0.63811	M	.	.	.	-2.83	0.59710	D	0.26	0.44761	-0.7940	0.55496	T	0.058	0.24167	T	9	0.003879249	0.00073	T	.	.	.	0.208	0.49714	.	.	0.349647731962	0.34572	0.3724016433471182	0.37154	0.00802304616737	0.00722	0.393659859896	0.24184	T	0.059902	0.36206	T	-0.340465	0.05356	T	-0.238834	0.50911	T	0.0250921310217131	0.01285	T	0.791921	0.44873	T	0.27602103	0.50664	0.29151028	0.55176	0.27602103	0.50664	0.29151028	0.55175	-5.529	0.42139	T	.	.	0.088	0.36254	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	2.912965	0.38644	20.8	0.98824809938331715	0.46852	0.91968	0.54654	D	AEFBI	0.399575	0.47480	N	0.159841103611831	0.49277	3.130056	0.0633569309348948	0.42721	2.589041	0.999999729198067	0.74766	0.59774	0.34471	0	0.59043	0.45803	0	0.596491	0.31596	0	0.562822	0.20929	0	.	.	4.66	4.66	0.57857	3.430000	0.52575	.	.	0.652000	0.53365	1.000000	0.71638	0.001000	0.17328	0.025000	0.12405	0.0:0.0:1.0:0.0	16.912	0.86010	940	0.13648	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.005112	0.000000	0.008197	0.002976	0.000000	0.008621	0.006211	0.003817	0.07143	394.44	34	chr1	930204	.	G	A	394.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.124;DP=219;ExcessHet=0;FS=1.236;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.86;ReadPosRankSum=-2.491;SOR=0.758	GT:AD:DP:GQ:PL	0/1:20,20:40:99:405,0,419	6	0	1	0
chr1	942945	942945	C	T	exonic	SAMD11	.	nonsynonymous SNV	SAMD11:NM_001385640:exon11:c.C1943T:p.P648L,SAMD11:NM_001385641:exon11:c.C1940T:p.P647L,SAMD11:NM_152486:exon11:c.C1451T:p.P484L	.	414	1105	3	0	0	3	0.00135563	.	.	.	1153732	not_provided|SAMD11-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.045	.	0.0083	0.0109824	0.0062	0.0698	0.0054	0	0	0.0002	0	0.0004	0.0018046	279	154602	rs114478480	0.0009	0.0009	0.0010	0.0008	0.0333	0.0009	0.0009	0.0316	0.0310	0.0333	0.0022	0	0	0	0.0012	2.501e-05	0.0019	6.332e-05	0.0085	0.0086	0.0084	0.0086	0.0296	0.0082	0.0080	0.0282	0.0276	0.0296	0	0.0035	0	0	0	0.0034	8.831e-05	0.0057	0	0.007	0.59928	D	0.06	0.45744	T	0.001	0.07471	B	0.001	0.04355	B	0.000325	0.45700	D	0.150730	0.999998	0.08975	N	0.345	0.11182	N	.	.	.	-3.48	0.67941	D	0.085	0.12198	-1.0391	0.17587	T	0.008	0.02801	T	9	0.0030383766	0.00050	T	.	.	.	0.089	0.25827	.	.	0.177238962908	0.17366	0.20706782920270694	0.20622	0.00714376160923	0.00627	0.675765156746	0.63662	T	0.047531	0.36790	T	-0.600932	0.00144	T	-0.612289	0.11800	T	0.0263448655032246	0.01452	T	0.747125	0.36767	T	0.09336694	0.21927	0.11394595	0.27503	0.09336694	0.21927	0.11394595	0.27502	-4.383	0.29326	T	.	.	0.073	0.09723	B	.;.;.;.;.;.	.;.;.;.;.;.	0.757324	0.11270	7.897	0.60977837046637418	0.06595	0.05200	0.11024	N	AEFDGBCI	0.133863	0.25367	N	-0.885954403701618	0.11176	0.5379339	-1.03498590992202	0.09021	0.4466185	0.999999095782753	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.608004	0.38603	0	0.620976	0.48614	0	.	.	4.37	-2.71	0.05633	-0.755000	0.04887	.	.	-0.342000	0.05666	0.000000	0.06391	0.002000	0.18203	0.013000	0.09966	0.1407:0.3922:0.2762:0.1908	1.825	0.02930	940	0.13648	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.004107	0.000000	0.005464	0.003012	0.000000	0.018182	0.003145	0.000000	0.07143	538.63	35	chr1	942945	.	C	T	538.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.388;DP=219;ExcessHet=0;FS=4.666;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.17;ReadPosRankSum=-0.661;SOR=0.426	GT:AD:DP:GQ:PL	0/1:17,21:38:99:549,0,394	6	0	1	0
chr1	3186136	3186136	G	A	exonic	PRDM16	.	nonsynonymous SNV	PRDM16:NM_022114:exon2:c.G49A:p.V17I,PRDM16:NM_199454:exon2:c.G49A:p.V17I	Cardiomyopathy, dilated, 1LL, Autosomal dominant;Left ventricular noncompaction 8, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	448102	not_specified|PRDM16-related_disorder|not_provided|Left_ventricular_noncompaction_8	MedGen:CN169374|.|MedGen:C3661900|MONDO:MONDO:0014152,MedGen:C3809288,OMIM:615373,Orphanet:154,Orphanet:54260	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.052	0.00863666447326	0.0010	0.00119808	0.0004	0.0043	0	0.0002	0	0	0	0	0.0003428	53	154602	rs183153140	0.0002	0.0002	0.0002	0.0002	0.0053	0.0001	0.0001	0.0047	0.0044	0.0053	0.0001	0	7.557e-05	1.917e-05	0.0003	3.148e-05	0.0002	2.319e-05	0.0013	0.0013	0.0014	0.0013	0.0048	0.0012	0.0011	0.0042	0.0040	0.0048	0	0	0	0	0	0	2.94e-05	0	0	1.0	0.02079	T	0.491	0.11515	T	0.001	0.07471	B	0.001	0.04355	B	0.772636	0.09535	N	0.839624	0.999867	0.19989	N	-0.29	0.03673	N	1.55	0.29866	T	0.09	0.05917	N	0.199	0.21969	-0.9665	0.37914	T	0.021	0.08824	T	10	0.003747195	0.00070	T	0.008637	0.22829	T	0.052	0.14661	.	.	0.161926535498	0.15789	0.09466399130353666	0.09398	0.286599048066	0.31053	0.401314437389	0.25252	T	0.003814	0.29325	T	-0.751556	0.00017	T	-0.851244	0.00944	T	0.00393074013857857	0.00042	T	0.445855	0.12478	T	0.021009019	0.00683	0.034126043	0.02423	0.017489644	0.00277	0.034485813	0.02524	-3.973	0.23398	T	.	.	0.067	0.05491	B	.;.;.;.	.;.;.;.	-1.632252	0.00225	0.003	0.8876347192275662	0.18236	0.04420	0.10012	N	AEFBI	0.042006	0.06462	N	-1.4464236670906	0.02245	0.09892897	-1.364206608079	0.03641	0.170275	0.842003394551785	0.24884	0.517182	0.21443	0	0.547309	0.14657	0	0.478664	0.07449	1	0.613276	0.41899	0	.	.	5.1	-4.66	0.03090	-0.571000	0.05979	-7.105000	0.01230	-2.829000	0.00178	0.141000	0.23520	0.000000	0.08366	0.874000	0.41677	0.6627:0.0999:0.2374:0.0	9.236	0.36627	983	0.02875	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002014	0.010101	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	678.44	34	chr1	3186136	.	G	A	678.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.636;DP=241;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.34;ReadPosRankSum=-0.665;SOR=0.743	GT:AD:DP:GQ:PL	0/1:27,28:55:99:689,0,612	6	0	1	0
chr1	3781222	3781222	C	A	exonic	LRRC47	.	nonsynonymous SNV	LRRC47:NM_020710:exon7:c.G1618T:p.A540S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.0203837692952	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.88	0.02544	T	0.347	0.17640	T	0.008	0.14655	B	0.002	0.06944	B	0.012064	0.29301	N	0.373633	1	0.08975	N	0.805	0.20218	L	1.05	0.39990	T	-0.1	0.08495	N	0.07	0.04307	-0.9963	0.30946	T	0.035	0.14987	T	10	0.04924488	0.04487	T	0.020384	0.42963	T	0.019	0.03383	0.351	0.34922	0.316310170894	0.31242	0.05289342791977535	0.05231	0.264680432319	0.29017	0.346359610558	0.17385	T	0.01315	0.11424	T	-0.280739	0.10589	T	-0.641039	0.09593	T	0.108374528586864	0.13254	T	0.420658	0.11177	T	0.01713376	0.00249	0.028697094	0.01131	0.01713376	0.00249	0.028697094	0.01130	-3.23	0.12851	T	.	.	0.077	0.06295	B	.	.	0.297128	0.06730	3.241	0.8542549720414937	0.15885	0.29807	0.23918	N	AEFDBCI	0.129630	0.24788	N	-1.22417043914999	0.04652	0.2103883	-1.18584729089897	0.06145	0.2949057	0.975097573071527	0.29602	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.96	0.353	0.15294	-0.053000	0.11802	-0.302000	0.10107	0.549000	0.26987	0.001000	0.13787	0.000000	0.08366	0.024000	0.12247	0.2328:0.3914:0.3757:0.0	9.561	0.38536	851	0.35303	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	807.44	46	chr1	3781222	.	C	A	807.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.167;DP=249;ExcessHet=0;FS=2.303;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.92;ReadPosRankSum=-0.38;SOR=0.922	GT:AD:DP:GQ:PL	0/1:21,37:58:99:818,0,381	6	0	1	0
chr1	5874979	5874979	G	A	exonic	NPHP4	.	nonsynonymous SNV	NPHP4:NM_001291594:exon17:c.C1403T:p.T468M,NPHP4:NM_001291593:exon18:c.C1400T:p.T467M,NPHP4:NM_015102:exon21:c.C2939T:p.T980M	Nephronophthisis 4, Autosomal recessive;Senior-Loken syndrome 4, Autosomal recessive	0	1517	3	2	0	7	0.00230187	.	.	.	273272	Inborn_genetic_diseases|Nephronophthisis_4|Senior-Loken_syndrome_4|not_specified|Nephronophthisis|not_provided	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0011752,MedGen:C1847013,OMIM:606966,Orphanet:655|MONDO:MONDO:0011756,MedGen:C1846979,OMIM:606996,Orphanet:3156|MedGen:CN169374|Human_Phenotype_Ontology:HP:0000090,Human_Phenotype_Ontology:HP:0004748,MONDO:MONDO:0019005,MedGen:C0687120,OMIM:PS256100,Orphanet:655|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.486	0.204354671233	.	.	5.829e-05	0	0	0	0.0002	3.019e-05	0	0.0002	4.53e-05	7	154602	rs199645515	6.095e-05	6.156e-05	6.132e-05	6.056e-05	0.0002	5.033e-05	4.676e-05	0.0001	9.45e-05	0	8.944e-05	0	0	0.0003	0.0002	4.407e-05	6.628e-05	0.0002	6.57e-05	6.566e-05	5.138e-05	8.07e-05	0.0004	3.516e-05	2.616e-05	7.287e-05	3.028e-05	2.412e-05	0	6.542e-05	0	0	9.414e-05	0	5.88e-05	0.0005	0.0004	0.006	0.61437	D	0.007	0.69154	D	1.0	0.90584	D	0.999	0.92359	D	0.000554	0.43413	D	0.159288	0.997489	0.43926	D	2.83	0.82355	M	-2.43	0.88689	D	-3.42	0.67241	D	0.545	0.57177	0.815	0.94600	D	0.818	0.93862	D	10	0.6148647	0.67649	D	0.204355	0.86926	D	0.486	0.77464	0.313	0.28774	0.943893243587	0.94330	0.7264677464608235	0.72590	0.39982671401	0.40996	0.451912611723	0.32205	T	0.548963	0.84692	D	-0.0636963	0.42327	T	-0.0695927	0.65654	T	0.546569466590881	0.34349	D	0.90041	0.65400	D	0.14619029	0.33477	0.1680415	0.38733	0.14619029	0.33476	0.1680415	0.38732	-7.088	0.54674	T	0.8315262866048567	0.90223	0.097	0.16010	B	.	.	3.746340	0.53679	23.4	0.99872735043617289	0.94989	0.94234	0.60522	D	AEFDBI	0.415320	0.48423	N	0.591119029757443	0.72620	5.834467	0.497041157499361	0.67793	5.131906	0.999955318458322	0.48110	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.88	4.88	0.63131	5.275000	0.65386	6.406000	0.55586	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.353000	0.25727	0.0:0.0:1.0:0.0	17.064	0.86427	952	0.10565	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002016	0.000000	0.001359	0.000000	0.000000	0.000000	0.009146	0.000000	0.07143	888.44	34	chr1	5874979	.	G	A	888.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.837;DP=309;ExcessHet=0;FS=1.008;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.88;ReadPosRankSum=-0.339;SOR=0.65	GT:AD:DP:GQ:PL	0/1:22,42:64:99:899,0,391	6	0	1	0
chr1	6149250	6149250	T	C	exonic	CHD5	.	nonsynonymous SNV	CHD5:NM_015557:exon8:c.A1157G:p.H386R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.595	0.0481213798274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.895e-07	2.052e-06	0	1.389e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.30800	T	0.008	0.67890	D	0.77	0.43887	P	0.404	0.44625	B	0.000001	0.84330	U	0.000000	0.999995	0.81001	D	-0.255	0.03828	N	-1.77	0.83660	D	-6.58	0.91956	D	0.548	0.57433	-0.2356	0.76740	T	0.356	0.71842	T	10	0.57245314	0.65394	D	0.048121	0.63233	D	0.595	0.83911	0.426	0.47185	0.803554204583	0.80171	0.5609846680738644	0.56025	1.02953252697	0.75381	0.817249715328	0.84606	D	0.297108	0.66972	T	0.111244	0.65481	D	-0.0779825	0.65051	T	0.967318713665009	0.67868	D	0.930707	0.74322	D	0.6162882	0.73564	0.69097966	0.81815	0.6162882	0.73565	0.69097966	0.81816	-12.538	0.87372	D	.	.	0.993	0.94496	P	.	.	4.520596	0.70871	25.6	0.99214106223145915	0.55685	0.93169	0.57505	D	AEFDBCI	0.954488	0.97162	D	0.092770990523195	0.46126	2.857865	0.134018516515997	0.46299	2.878286	0.999999999938095	0.74766	0.403107	0.06075	0	0.578056	0.33634	0	0.608004	0.38603	0	0.562822	0.20929	0	.	.	4.03	4.03	0.46115	7.965000	0.87496	7.615000	0.62066	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.688000	0.33778	0.0:0.0:0.0:1.0	13.272	0.59600	824	0.40336	Zinc finger, PHD-finger|Zinc finger, PHD-type, conserved site|Zinc finger, PHD-finger|Zinc finger, PHD-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	167.83	28	chr1	6149250	.	T	C	167.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.91;DP=194;ExcessHet=0;FS=8.86;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=6.99;ReadPosRankSum=-0.769;SOR=3.126	GT:AD:DP:GQ:PL	0/1:18,6:24:99:178,0,455	6	0	1	0
chr1	7970934	7970934	G	A	exonic	PARK7	.	nonsynonymous SNV	PARK7:NM_001123377:exon5:c.G293A:p.R98Q,PARK7:NM_007262:exon5:c.G293A:p.R98Q	Parkinson disease 7, autosomal recessive early-onset, Autosomal recessive	0	1458	62	2	0	66	0.0221328	.	.	.	448380	Autosomal_recessive_early-onset_Parkinson_disease_7|Renal_cysts_and_diabetes_syndrome|not_provided|PARK7-related_disorder|not_specified	MONDO:MONDO:0011658,MedGen:C1853445,OMIM:606324,Orphanet:2828|MONDO:MONDO:0007669,MedGen:C0431693,OMIM:137920,Orphanet:93111|MedGen:C3661900|.|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.202	.	0.0081	0.0061901	0.0081	0.0014	0.0058	0	0.0014	0.0105	0.0077	0.0114	0.0084216	1302	154602	rs71653619	0.0095	0.0095	0.0094	0.0097	0.0189	0.0094	0.0094	0.0160	0.0149	0.0016	0.0061	0.0111	0.0001	0.0013	0.0189	0.0104	0.0094	0.0122	0.0071	0.0071	0.0078	0.0065	0.0114	0.0068	0.0067	0.0107	0.0104	0.0019	0.0208	0.0066	0.0089	0	0.0008	0.0204	0.0114	0.0085	0.0108	0.509	0.07521	T	0.617	0.08594	T	0.005	0.12996	B	0.005	0.11217	B	0.000229	0.47286	N	0.235976	0.983594	0.26640	N	0.56	0.15190	N	-2.07	0.85943	D	-0.23	0.10656	N	0.4	0.44090	-0.8486	0.52065	T	0.232	0.59855	T	10	0.007415384	0.00169	T	.	.	.	0.202	0.48754	.	.	0.595664802742	0.59245	0.6617246050350262	0.66109	0.145711389982	0.16455	0.418447196484	0.27624	T	0.213762	0.57516	T	-0.348376	0.04830	T	-0.258914	0.48934	T	0.00210440679837054	0.00022	T	0.787021	0.44511	T	0.3051896	0.53366	0.11414655	0.27552	0.2824717	0.51284	0.118711516	0.28654	-6.663	0.51531	T	0.10339772836481027	0.07969	0.132	0.30739	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.429467	0.47660	22.5	0.71239704748064825	0.09562	0.94024	0.59884	D	AEFDBI	0.881393	0.80872	D	-0.622150246714128	0.18280	0.9477725	-0.4842833585006	0.22586	1.227488	0.99927417882496	0.38974	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.11	3.22	0.36041	5.372000	0.65909	8.567000	0.77590	-0.103000	0.15852	1.000000	0.71638	1.000000	0.68203	0.222000	0.22517	0.1872:0.0:0.8128:0.0	8.669	0.33303	803	0.44167	DJ-1/PfpI;DJ-1/PfpI;DJ-1/PfpI;DJ-1/PfpI;DJ-1/PfpI;DJ-1/PfpI;DJ-1/PfpI	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.015609	0.015152	0.013587	0.011696	0.050000	0.008621	0.018293	0.018939	0.07143	364.53	37	chr1	7970934	.	G	A	364.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.885;DP=204;ExcessHet=0;FS=3.949;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.19;ReadPosRankSum=-1.231;SOR=1.765	GT:AD:DP:GQ:PL	0/1:10,14:24:99:375,0,220	6	0	1	0
chr1	10105713	10105713	G	A	exonic	UBE4B	.	nonsynonymous SNV	UBE4B:NM_001105562:exon6:c.G778A:p.V260M,UBE4B:NM_006048:exon6:c.G778A:p.V260M	.	428	1068	26	0	0	26	0.0120259	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	.	0.0003	0.00459265	0.0026	0	0.0005	0	0.0002	0.0007	0.0022	0.0158	0.002348	363	154602	rs150442851	0.0013	0.0013	0.0008	0.0018	0.0156	0.0012	0.0012	0.0149	0.0146	0.0001	0.0002	0	5.038e-05	0.0009	0.0038	0.0003	0.0013	0.0156	0.0009	0.0009	0.0007	0.0012	0.0137	0.0008	0.0008	0.0110	0.0101	2.406e-05	0	0.0009	0.0003	0	0.0007	0	0.0008	0.0005	0.0137	0.217	0.21550	T	0.169	0.35330	T	0.396	0.34753	B	0.036	0.22909	B	0.577531	0.05516	N	1.238790	1	0.08975	N	0.695	0.17993	N	0.82	0.49358	T	-0.55	0.16799	N	0.125	0.11769	-1.0289	0.20811	T	0.046	0.19919	T	10	0.0032159984	0.00055	T	.	.	.	0.042	0.11227	.	.	0.364535869594	0.36064	0.270214646084552	0.26934	0.699871661359	0.61068	0.33072835207	0.15045	T	0.07218	0.34391	T	-0.600273	0.00145	T	-0.621402	0.11076	T	0.0335537133524029	0.02563	T	0.890711	0.62461	D	0.014283485	0.00087	0.036919747	0.03236	0.014283485	0.00087	0.036919747	0.03235	-3.19	0.17010	T	.	.	0.080	0.11558	B	.;.	.;.	0.715731	0.10848	7.525	0.90934577686081774	0.20183	0.18528	0.20297	N	AEFDBIJ	0.090501	0.18338	N	-1.4641409876063	0.02108	0.09273791	-1.53757122747371	0.02062	0.09431241	0.999999033061105	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.62	-9.99	0.00358	0.184000	0.16748	-1.783000	0.04734	-0.684000	0.04190	0.016000	0.19238	0.000000	0.08366	0.231000	0.22761	0.053:0.1543:0.1417:0.6511	9.457	0.37929	545	0.72614	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003021	0.000000	0.001359	0.002924	0.000000	0.000000	0.006098	0.007576	0.07143	941.44	33	chr1	10105713	.	G	A	941.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.52;DP=273;ExcessHet=0;FS=1.785;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.21;ReadPosRankSum=0.085;SOR=0.936	GT:AD:DP:GQ:PL	0/1:46,38:84:99:952,0,1097	6	0	1	0
chr1	11099794	11099794	G	A	exonic	EXOSC10	.	nonsynonymous SNV	EXOSC10:NM_001001998:exon1:c.C38T:p.S13L,EXOSC10:NM_002685:exon1:c.C38T:p.S13L	.	431	1085	6	0	0	6	0.00275735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.0119335358143	0.0016	0.000599042	0.0017	0.0006	0.0007	0	0.0002	0.0025	0	0.0017	0.0016041	248	154602	rs146839323	0.0019	0.0019	0.0019	0.0019	0.0022	0.0018	0.0018	0.0021	0.0021	9.027e-05	0.0008	0.0015	2.547e-05	0.0002	0.0017	0.0022	0.0017	0.0016	0.0015	0.0015	0.0016	0.0013	0.0025	0.0013	0.0012	0.0022	0.0021	0.0005	0	0.0006	0.0032	0.0002	9.418e-05	0	0.0025	0.0014	0.0008	0.12	0.27904	T	0.21	0.26714	T	0.001	0.07471	B	0.001	0.04355	B	0.219625	0.03444	N	1.493920	1	0.08975	N	1.59	0.40313	L	.	.	.	-1.47	0.35991	N	0.096	0.07673	-1.0225	0.22899	T	0.097	0.36367	T	9	0.0065403283	0.00148	T	0.011934	0.30037	T	0.091	0.26358	.	.	0.356281029322	0.35234	0.3942566468583189	0.39340	0.193807588903	0.21713	0.395592451096	0.24454	T	0.224022	0.58833	T	-0.58886	0.00170	T	-0.624181	0.10859	T	0.0158166298844185	0.00369	T	0.761124	0.38584	T	0.1003188	0.23686	0.12535316	0.30204	0.1003188	0.23685	0.12535316	0.30203	-4.688	0.33295	T	.	.	0.072	0.04080	B	.;.	.;.	2.410278	0.30976	18.60	0.98119365805184344	0.38424	0.04646	0.10316	N	ALL	0.065038	0.12662	N	-0.760321750476459	0.14354	0.7143493	-0.754411525755553	0.15614	0.822065	0.999999999996827	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.09	4.17	0.48303	1.457000	0.34822	2.794000	0.34813	0.597000	0.34315	0.053000	0.21524	0.166000	0.23302	0.001000	0.02609	0.0915:0.1662:0.7423:0.0	7.526	0.26822	502	0.75873	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	253.27	33	chr1	11099794	.	G	A	253.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.53;DP=196;ExcessHet=0;FS=1.58;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.13;ReadPosRankSum=-0.682;SOR=0.625	GT:AD:DP:GQ:PL	0/1:12,13:25:99:263,0,240	5	0	1	1
chr1	11655965	11655965	G	A	exonic	FBXO44	.	nonsynonymous SNV	FBXO44:NM_001304791:exon2:c.G130A:p.V44M,FBXO44:NM_001330355:exon2:c.G130A:p.V44M,FBXO44:NM_033182:exon2:c.G130A:p.V44M,FBXO44:NM_183412:exon2:c.G130A:p.V44M,FBXO44:NM_183413:exon2:c.G130A:p.V44M,FBXO44:NM_001014765:exon3:c.G130A:p.V44M,FBXO44:NM_001304790:exon3:c.G130A:p.V44M	.	427	1093	2	0	0	2	0.000914077	.	.	.	2726499	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.059	0.0220635085226	7.7e-05	0.000199681	0.0001	0	0	0	0	3.006e-05	0	0.0007	3.84e-05	1	26028	rs144060084	5.609e-05	5.678e-05	3.948e-05	7.288e-05	0.0007	4.61e-05	4.236e-05	0.0006	0.0005	0	0	0	0	0	0.0002	1.259e-05	6.623e-05	0.0007	4.597e-05	5.25e-05	5.14e-05	4.03e-05	0.0008	2.108e-05	1.526e-05	0.0003	0.0002	0	0	0	0	0	0	0	4.41e-05	0	0.0008	0.06	0.38407	T	0.083	0.44501	T	0.74	0.44271	P	0.142	0.37929	B	0.702830	0.10079	N	0.867347	1	0.08975	N	0.865	0.21413	L	1.98	0.21865	T	-1.25	0.31576	N	0.333	0.38541	-1.0467	0.15332	T	0.037	0.15813	T	10	0.02905795	0.01034	T	0.022064	0.44919	T	0.059	0.16972	.	.	0.224531998449	0.22054	0.35749166170748764	0.35663	0.999068856706	0.74351	0.476750552654	0.35610	T	0.023509	0.26287	T	-0.417895	0.01765	T	-0.473891	0.25098	T	0.088455264403639	0.11032	T	0.217978	0.03193	T	0.0924503	0.21689	0.12007287	0.28979	0.0924503	0.21689	0.12007287	0.28978	-8.901	0.67323	D	.	.	0.123	0.55250	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.718414	0.35549	19.93	0.99435184183904435	0.64472	0.08584	0.14493	N	AEFDGBI	0.088176	0.17876	N	-0.365322575505716	0.26714	1.460005	-0.375275248054592	0.25737	1.417164	0.999994255241562	0.74766	0.766844	0.99359	0	0.662677	0.63036	0	0.851219	0.99655	0	0.635551	0.53088	0	.	.	5.44	2.39	0.28492	0.254000	0.18084	3.924000	0.40490	0.654000	0.53741	0.001000	0.13787	0.998000	0.33993	0.995000	0.73285	0.1637:0.2699:0.5664:0.0	6.280	0.20209	878	0.29785	F-box domain|F-box domain|F-box domain;F-box domain|F-box domain|F-box domain;F-box domain|F-box domain|F-box domain;F-box domain|F-box domain|F-box domain;F-box domain|F-box domain|F-box domain;F-box domain|F-box domain|F-box domain;F-box domain|F-box domain|F-box domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1108.49	34	chr1	11655965	.	G	A	1108.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.655;DP=253;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=58.12;MQRankSum=-1.792;QD=16.54;ReadPosRankSum=-0.514;SOR=0.61	GT:AD:DP:GQ:PL	0/1:21,46:67:99:1119,0,364	6	0	1	0
chr1	11655993	11655993	G	A	exonic	FBXO44	.	nonsynonymous SNV	FBXO44:NM_001304791:exon2:c.G158A:p.R53Q,FBXO44:NM_001330355:exon2:c.G158A:p.R53Q,FBXO44:NM_033182:exon2:c.G158A:p.R53Q,FBXO44:NM_183412:exon2:c.G158A:p.R53Q,FBXO44:NM_183413:exon2:c.G158A:p.R53Q,FBXO44:NM_001014765:exon3:c.G158A:p.R53Q,FBXO44:NM_001304790:exon3:c.G158A:p.R53Q	.	425	1095	2	0	0	2	0.000912409	.	.	.	2711830	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.154	0.0400570266362	7.7e-05	0.000199681	0.0001	0	0	0	0	3.002e-05	0	0.0007	9.7e-05	15	154602	rs140874551	5.746e-05	5.814e-05	3.948e-05	7.563e-05	0.0008	4.743e-05	4.366e-05	0.0006	0.0006	0	0	0	0	0	0.0002	1.259e-05	6.623e-05	0.0008	3.283e-05	3.281e-05	2.57e-05	4.028e-05	0.0008	1.26e-05	7.97e-06	0.0003	0.0002	0	0	0	0	0	0	0	1.47e-05	0	0.0008	0.369	0.11586	T	0.243	0.28575	T	0.103	0.33059	B	0.01	0.23986	B	0.000012	0.62929	N	0.111045	0.667446	0.30394	N	1.615	0.41426	L	0.79	0.49068	T	-1.56	0.40468	N	0.343	0.50778	-0.9908	0.32398	T	0.087	0.33802	T	10	0.031497747	0.01285	T	0.040057	0.59162	D	0.154	0.40340	.	.	0.420939154896	0.41709	0.32883424915761894	0.32796	0.37739256135	0.39174	0.370560050011	0.20912	T	0.044817	0.31607	T	-0.384175	0.02931	T	-0.422024	0.30842	T	0.0693139058332282	0.08554	T	0.878912	0.59457	D	0.13540116	0.31426	0.10224877	0.24501	0.13540116	0.31426	0.10224877	0.24501	-5.95	0.45859	T	.	.	0.074	0.10545	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.575425	0.33383	19.32	0.97789911054043566	0.35989	0.84353	0.43435	D	AEFDGBI	0.165314	0.29180	N	-0.610389902058304	0.18632	0.9688509	-0.514090465673906	0.21770	1.179284	0.999992329906474	0.74766	0.766844	0.99359	0	0.662677	0.63036	0	0.851219	0.99655	0	0.714379	0.83352	0	.	.	5.45	3.53	0.39533	2.599000	0.45895	0.900000	0.22542	-0.173000	0.11020	0.998000	0.41325	0.035000	0.21413	0.889000	0.42754	0.1551:0.0:0.705:0.1399	7.127	0.24654	878	0.29785	F-box domain;F-box domain;F-box domain;F-box domain;F-box domain;F-box domain;F-box domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	922.83	34	chr1	11655993	.	G	A	922.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.082;DP=236;ExcessHet=0;FS=2.127;MLEAC=1;MLEAF=0.071;MQ=57.68;MQRankSum=-2.371;QD=14.88;ReadPosRankSum=2.26;SOR=0.558	GT:AD:DP:GQ:PL	0/1:25,37:62:99:933,0,556	6	0	1	0
chr1	11858322	11858322	C	A	exonic	NPPB	.	nonsynonymous SNV	NPPB:NM_002521:exon2:c.G280T:p.V94F	.	400	1113	9	0	0	9	0.00402685	.	.	.	706622	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.118	.	0.0022	0.00239617	0.0028	0.0007	0.0012	0	0.0112	0.0033	0.0056	0.0013	0.002652	410	154602	rs35640285	0.0029	0.0029	0.0029	0.0028	0.0033	0.0028	0.0028	0.0025	0.0024	0.0004	0.0022	0.0072	0.0003	0.0127	0.0033	0.0026	0.0031	0.0016	0.0032	0.0032	0.0026	0.0039	0.0033	0.0030	0.0029	0.0026	0.0025	0.0007	0.0011	0.0033	0.0084	0.0004	0.0158	0	0.0029	0.0024	0.0015	0.248	0.17239	T	0.376	0.16182	T	0.868	0.47740	P	0.325	0.41883	B	.	.	.	.	1	0.08975	N	1.7	0.43825	L	2.02	0.21119	T	-0.92	0.24676	N	0.229	0.25745	-1.1390	0.01396	T	0.002	0.00738	T	9	0.0061655045	0.00139	T	.	.	.	0.118	0.32913	.	.	0.168933306366	0.16529	0.12861812929695868	0.12786	0.687711552837	0.60394	0.324313998222	0.14075	T	0.110788	0.42575	T	-0.596953	0.00152	T	-0.63268	0.10213	T	0.0108581134624478	0.00155	T	0.336666	0.07200	T	0.05751787	0.11456	0.09384534	0.22185	0.05751787	0.11456	0.09384534	0.22185	-3.528	0.16826	T	.	.	0.105	0.19073	B	.	.	-0.169070	0.03252	0.551	0.97715508139197937	0.35525	0.02593	0.07155	N	AEFBCI	0.278746	0.39296	N	-1.38753890119288	0.02754	0.1220611	-1.63603470162765	0.01450	0.0655785	0.999898732684697	0.45129	0.764865	0.99124	0	0.563428	0.19063	0	0.731555	0.93304	0	0.530356	0.10902	0	.	.	3.85	-7.14	0.01374	-4.279000	0.00297	-2.623000	0.03537	-1.800000	0.00625	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2898:0.1154:0.5948	8.255	0.30912	574	0.70151	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002518	0.005051	0.002717	0.000000	0.000000	0.000000	0.006098	0.000000	0.07143	361.45	34	chr1	11858322	.	C	A	361.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.003;DP=219;ExcessHet=0;FS=4.803;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.77;ReadPosRankSum=-2.409;SOR=0.681	GT:AD:DP:GQ:PL	0/1:21,16:37:99:372,0,555	6	0	1	0
chr1	13176617	13176617	A	G	exonic	PRAMEF27;PRAMEF9	.	nonsynonymous SNV	PRAMEF9:NM_001010890:exon2:c.A670G:p.T224A,PRAMEF27:NM_001300891:exon3:c.A670G:p.T224A	.	924	594	0	4	0	8	0.00668896	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1266159912	0.0003	0.0003	0.0004	0.0003	0.0018	0.0003	0.0003	0.0005	0.0003	8.008e-05	0.0005	0	0	0	0.0018	0.0004	0.0008	0.0002	8.698e-05	0.0002	0	0.0002	0.0002	1.539e-05	6.38e-06	4.125e-05	1.627e-05	0	0	0	0	0	0	0	0.0002	0	0	.	.	.	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.00339	.	.	.	.	.	.	.	0.05650094	0.06342	T	.	.	.	.	.	.	.	.	.	0.1880957504432965	0.18727	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.04847	B	.	.	-0.762055	0.01184	0.057	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.247000	0.08884	-4.025000	0.02386	-1.541000	0.00979	0.002000	0.15269	0.000000	0.08366	0.000000	0.00833	.	.	.	976	0.04745	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	119.5	4	chr1	13176617	.	A	G	119.5	.	AC=2;AF=0.167;AN=12;DP=54;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=22.8;QD=23.9;SOR=3.611	GT:AD:DP:GQ:PL	1/1:0,5:5:15:138,15,0	5	1	0	1
chr1	13223384	13223384	G	A	exonic	PRAMEF18;PRAMEF22	.	nonsynonymous SNV	PRAMEF18:NM_001099850:exon3:c.C1388T:p.S463L,PRAMEF22:NM_001100631:exon3:c.C1388T:p.S463L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1490707968	7.289e-06	1.219e-05	6.446e-06	8.14e-06	0.0001	3.43e-06	2.48e-06	3.668e-05	1.888e-05	0	0	0	0.0001	0	0	4.173e-06	4.172e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.00162	N	15.784200	1	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	-1.0850	0.06407	T	0.087	0.33690	T	10	0.10855663	0.20212	T	0.041831	0.60142	D	.	.	0.459	0.52590	0.1749357433	0.17121	0.15138908562341735	0.15060	.	.	0.436713755131	0.30128	T	0.008064	0.07418	T	-0.346644	0.04941	T	-0.735706	0.04073	T	0.0810552388429642	0.10121	T	.	.	.	0.14747946	0.33712	0.08924451	0.20859	0.14747946	0.33712	0.08924451	0.20859	-3.748	0.20029	T	.	.	0.109	0.20741	B	.	.	-1.094615	0.00646	0.018	0.73993275299745076	0.10530	0.00084	0.00566	N	AEFI	.	.	.	-1.38381965232659	0.02789	0.1236714	-1.51480657881038	0.02230	0.1022405	2.64420154390851E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.23	-2.2	0.06601	-4.621000	0.00239	-9.213000	0.00851	-3.363000	0.00092	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.6162:0.0:0.3838:0.0	4.650	0.11976	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	45.27	48	chr1	13223384	.	G	A	45.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.645;DP=226;ExcessHet=0;FS=3.979;MLEAC=1;MLEAF=0.083;MQ=26.22;MQRankSum=1.04;QD=9.05;ReadPosRankSum=1.04;SOR=0.061	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:3,2:5:55:0|1:13223363_G_A:55,0,76:13223363	5	0	1	1
chr1	15524188	15524188	C	A	exonic	CASP9	.	nonsynonymous SNV	CASP9:NM_001229:exon1:c.G13T:p.D5Y,CASP9:NM_001278054:exon1:c.G13T:p.D5Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.135	0.674574502148	8.2e-05	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs374378619	0	6.156e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.571e-06	6.567e-06	1.285e-05	0	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.212	0.26300	T	0.294	0.22761	T	0.985	0.61118	D	0.668	0.53048	P	0.000521	0.43753	D	0.234076	0.999988	0.54805	D	2.285	0.65182	M	0.84	0.47477	T	-1.97	0.47344	N	0.325	0.44666	-1.0450	0.15825	T	0.120	0.41886	T	10	0.33323383	0.50516	T	0.674575	0.97292	D	0.135	0.36572	.	.	0.686876278679	0.68419	0.5169459326877894	0.51617	0.400734935992	0.41073	0.794383049011	0.81109	T	0.135127	0.46676	T	-0.0172473	0.49246	T	-0.262551	0.48569	T	0.779464781284332	0.45017	D	0.790321	0.56401	T	0.4772923	0.65736	0.2806192	0.54038	0.4772923	0.65737	0.2806192	0.54037	-10.416	0.76363	D	.	.	0.369	0.70101	A	.;.;.;.	.;.;.;.	2.748246	0.36012	20.1	0.67110577752041423	0.08257	0.24552	0.22429	N	ALL	0.133610	0.25334	N	-0.0504100051158599	0.39583	2.336673	-0.0914738979893278	0.35740	2.071428	0.999999999981901	0.74766	0.266657	0.04791	1	0.484254	0.07192	0	0.519653	0.09787	0	0.249971	0.05119	0	.	.	4.59	3.64	0.40864	0.417000	0.20934	3.266000	0.37125	0.542000	0.25261	0.002000	0.15269	0.997000	0.33255	0.035000	0.13729	0.0:0.7251:0.2749:0.0	10.215	0.42339	911	0.21964	CARD domain|CARD domain;CARD domain|CARD domain;.;CARD domain|CARD domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	49.49	20	chr1	15524188	.	C	A	49.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.967;DP=130;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=4.95;ReadPosRankSum=0.493;SOR=0.169	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:8,2:10:60:0|1:15524188_C_A:60,0,305:15524188	6	0	1	0
chr1	15524198	15524198	C	A	exonic	CASP9	.	startloss	CASP9:NM_001229:exon1:c.G3T:p.M1?,CASP9:NM_001278054:exon1:c.G3T:p.M1?	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.421	0.988033777838	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.104e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	0.68	0.51952	T	-2.8	0.59226	D	0.671	0.68863	-0.4020	0.71963	T	0.301	0.67251	T	9	0.79959565	0.79381	D	0.988034	0.99950	D	0.421	0.73005	0.976	0.99776	0.74168729342	0.73937	0.5932857724034143	0.59258	.	.	.	.	.	0.297735	0.67033	T	0.361276	0.87354	D	0.281172	0.87191	D	0.993541717529297	0.84384	D	0.9	0.65058	D	0.9840481	0.99402	0.98460937	0.99917	0.9840481	0.99403	0.98460937	0.99918	-11.019	0.79762	D	.	.	.	.	.	.;.;.;.	.;.;.;.	3.969763	0.58280	24.0	0.9798948839099626	0.37393	0.77136	0.37894	D	ALL	0.053010	0.09514	N	0.388161447376785	0.60779	4.270784	0.318622085584759	0.56633	3.82705	0.999999999999989	0.74766	0.266657	0.04791	1	0.484254	0.07192	0	0.519653	0.09787	0	0.249971	0.05119	0	.	.	4.59	4.59	0.56297	2.856000	0.48040	7.403000	0.58588	0.462000	0.21616	0.998000	0.41325	1.000000	0.68203	0.017000	0.10941	0.0:1.0:0.0:0.0	14.232	0.65446	911	0.21964	CARD domain|CARD domain;CARD domain|CARD domain;.;CARD domain|CARD domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	52.49	20	chr1	15524198	.	C	A	52.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.242;DP=122;ExcessHet=0;FS=3.802;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=5.83;ReadPosRankSum=0.921;SOR=0.078	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:7,2:9:63:0|1:15524188_C_A:63,0,284:15524188	6	0	1	0
chr1	16410043	16410043	C	T	exonic	SPATA21	.	nonsynonymous SNV	SPATA21:NM_001353349:exon4:c.G76A:p.E26K,SPATA21:NM_198546:exon6:c.G145A:p.E49K	.	399	1109	14	0	0	14	0.0062724	0.0682	0.342	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.221	.	0.0004	0.000599042	0.0010	0.0002	0.0011	0	0	0.0014	0.0026	0.0008	0.0009702	150	154602	rs201182640	0.0008	0.0008	0.0008	0.0008	0.0106	0.0008	0.0008	0.0083	0.0076	0.0004	0.0010	0.0049	0	1.96e-05	0.0106	0.0007	0.0017	0.0007	0.0007	0.0007	0.0008	0.0007	0.0012	0.0006	0.0006	0.0008	0.0007	0.0002	0	0.0012	0.0043	0	0	0.0136	0.0009	0.0019	0.0002	0.009	0.91255	D	0.036	0.62352	D	0.793	0.44725	P	0.196	0.36635	B	0.170082	0.17400	N	0.481200	0.708219	0.30039	N	2.255	0.64187	M	-0.86	0.74477	T	-1.73	0.41046	N	0.309	0.34874	-0.5983	0.64887	T	0.253	0.62258	T	10	0.0063958764	0.00146	T	0.02057	0.43191	T	0.221	0.51721	.	.	0.409124616982	0.40530	0.2156261966168259	0.21478	0.207277676253	0.23183	0.401835441589	0.25325	T	0.004957	0.04384	T	-0.379487	0.03139	T	-0.363435	0.37655	T	0.029477732060472	0.01909	T	0.591441	0.21800	T	0.08622826	0.20034	0.113605924	0.27418	0.08622826	0.20033	0.113605924	0.27417	-3.981	0.29216	T	.	.	0.104	0.32922	B	.;.	.;.	3.894111	0.56683	23.8	0.99815731946285613	0.89885	0.17090	0.19685	N	AEFDBI	0.117871	0.23073	N	-0.364218364561367	0.26753	1.462499	-0.432620193178793	0.24046	1.31461	0.999546033684751	0.40300	0.554377	0.28877	0	0.588066	0.40923	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	3.94	0.615	0.16784	-0.163000	0.09986	0.415000	0.18155	0.534000	0.24903	0.079000	0.22314	0.986000	0.30841	0.499000	0.28994	0.0:0.3971:0.6029:0.0	11.609	0.50307	784	0.47045	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004601	0.010309	0.009511	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	281.49	35	chr1	16410043	.	C	T	281.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.988;DP=220;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.82;ReadPosRankSum=1.2;SOR=0.859	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:8,11:19:99:0|1:16410043_C_T:292,0,238:16410043	6	0	1	0
chr1	16563946	16563946	C	T	exonic	NBPF1	.	unknown	UNKNOWN	.	400	294	827	1	0	829	0.585039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1105	.	0.2789	0.2174	0.2967	0.1361	0.3057	0.2989	0.2631	0.2918	0.0008473	131	154602	rs3863779	0.0001	0.0001	0.0003	0	0.0012	0	0	.	.	0	0	0	.	0	0	0	0	0.0012	0	0.0026	0	0	.	0	0	.	.	0	.	0	0	.	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.336496	0.271084	0.351499	0.376068	0.277778	0.344828	0.297297	0.384000	0.4286	16269.5	430	chr1	16563946	.	C	T	16269.5	.	AC=6;AF=0.429;AN=14;BaseQRankSum=2.38;DP=3010;ExcessHet=8.2628;FS=0.606;MLEAC=6;MLEAF=0.429;MQ=58.73;MQRankSum=-7.271;QD=6.67;ReadPosRankSum=-0.073;SOR=0.812	GT:AD:DP:GQ:PL	0/1:176,42:218:99:620,0,4819	1	0	6	0
chr1	16563989	16563989	G	C	exonic	NBPF1	.	unknown	UNKNOWN	.	391	314	816	1	0	818	0.565698	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3891	0.2879	0.4120	0.2492	0.4146	0.4143	0.3885	0.3951	0.0044437	687	154602	rs12117084	0	0.0002	0	0	.	0	0	.	.	0	0	0	.	0	0	0	0	0	0.0016	0.0027	0.0029	0	0.0030	0	0	.	.	0	.	0	0	.	0	0	0.0030	0	0	.	.	.	0.03	0.54159	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.353	0.39457	.	.	.	.	.	.	.	0.0024681687	0.00037	T	.	.	.	.	.	.	.	.	.	0.02352237282194909	0.02304	.	.	0.575379014015	0.49435	T	.	.	.	-0.455599	0.01046	T	-0.892213	0.00559	T	.	.	.	0.687031	0.29593	T	.	.	.	.	.	.	.	.	-3.451	0.15752	T	.	.	0.172	0.37820	B	.	.	0.069283	0.04780	1.396	0.1972110124842818	0.00678	0.00975	0.03723	N	AEFDBCIJ	0.029075	0.02679	N	.	.	.	.	.	.	7.36511087105358E-4	0.07723	0.383005	0.05895	0	0.332388	0.05802	1	0.457825	0.06646	0	0.467017	0.07116	0	.	.	0.566	0.566	0.16501	-0.694000	0.05217	-10.261000	0.00721	-1.511000	0.01016	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	497	0.76227	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.358989	0.280488	0.387978	0.366379	0.277778	0.379310	0.324138	0.412000	0.4286	18013.5	619	chr1	16563989	.	G	C	18013.5	.	AC=6;AF=0.429;AN=14;BaseQRankSum=0.809;DP=4019;ExcessHet=8.2628;FS=0;MLEAC=6;MLEAF=0.429;MQ=59.42;MQRankSum=-0.593;QD=5.25;ReadPosRankSum=0.556;SOR=0.723	GT:AD:DP:GQ:PL	0/1:242,47:289:99:573,0,6397	1	0	6	0
chr1	16564107	16564107	T	G	exonic	NBPF1	.	unknown	UNKNOWN	.	383	318	815	6	0	827	0.565277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4042	0.4090	0.4331	0.2091	0.4092	0.4156	0.4105	0.4299	0.0114492	298	26028	rs2990551	0	0.0008	0	0	.	0	0	.	.	0	0	0	.	0	0	0	0	0	0	0.0042	0	0	.	0	0	.	.	0	.	0	0	.	0	.	0	0	0	.	.	.	0.218	0.26066	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.168	0.17828	.	.	.	.	.	.	.	0.005626291	0.00125	T	.	.	.	.	.	.	.	.	.	0.015489301517433041	0.01504	.	.	0.533775627613	0.43567	T	.	.	.	-0.499041	0.00579	T	-0.954615	0.00248	T	.	.	.	0.465553	0.17787	T	.	.	.	.	.	.	.	.	-2.062	0.03424	T	.	.	0.177	0.38676	B	.;.	.;.	-0.174163	0.03224	0.539	0.25431419136250621	0.01172	0.01395	0.04735	N	AEFDBHCI	0.031569	0.03403	N	.	.	.	.	.	.	7.84172557205885E-4	0.07810	0.383005	0.05895	0	2.97E-4	0.00021	3	0.155693	0.03940	1	0.393	0.06807	0	.	.	0.566	-0.849	0.10181	-0.576000	0.05947	-14.342000	0.00409	-0.599000	0.04621	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	497	0.76227	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.364819	0.306250	0.372283	0.388889	0.187500	0.405172	0.335714	0.360000	0.4286	15251.5	646	chr1	16564107	.	T	G	15251.5	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-1.876;DP=3869;ExcessHet=8.2628;FS=0;MLEAC=6;MLEAF=0.429;MQ=55.69;MQRankSum=3.18;QD=4.75;ReadPosRankSum=1.46;SOR=0.634	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:176,107:283:99:.:.:2303,0,4972:.	1	0	6	0
chr1	16564144	16564144	C	T	exonic	NBPF1	.	unknown	UNKNOWN	.	396	90	1031	5	0	1041	0.85258	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4583	0.3425	0.4588	0.4722	0.4820	0.4666	0.4640	0.4780	0.0474489	1235	26028	rs1043750	0.0010	0.0018	0.0014	0.0006	0.0011	0.0005	0.0004	0.0006	0.0004	0	0	0	.	0.0027	0	0.0011	0.0016	0	0	0.0038	0	0	.	0	0	.	.	.	.	0	.	.	0	.	0	.	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.428814	0.400000	0.425272	0.420168	0.375000	0.439655	0.440559	0.455645	0.5	26158.1	476	chr1	16564144	.	C	T	26158.1	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-0.919;DP=3008;ExcessHet=14.2834;FS=3.476;MLEAC=7;MLEAF=0.5;MQ=52.79;MQRankSum=-17.02;QD=8.98;ReadPosRankSum=0.726;SOR=0.923	GT:AD:DP:GQ:PL	0/1:74,126:200:99:3203,0,2608	0	0	7	0
chr1	16564149	16564149	C	T	exonic	NBPF1	.	unknown	UNKNOWN	.	397	86	1030	9	0	1048	0.859016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4934	0.4863	0.4979	0.4883	0.4979	0.4937	0.49	0.4947	0.0530967	1382	26028	rs2992339	0.0004	0.0011	0.0002	0.0006	0.0006	0.0001	8.492e-05	0.0002	0.0001	0	0	0	.	0	0	0.0006	0	0	0	0.0048	0	0	.	0	0	.	.	.	.	0	.	.	.	.	0	.	0	.	.	.	0.027	0.57587	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.14196	.	.	.	.	.	.	.	0.0017973781	0.00024	T	.	.	.	.	.	.	.	.	.	0.0179163774864188	0.01745	.	.	0.506860494614	0.39783	T	.	.	.	-0.443409	0.01235	T	-0.874703	0.00699	T	.	.	.	0.69743	0.33655	T	.	.	.	.	.	.	.	.	-6.206	0.47972	T	.	.	0.161	0.35519	B	.;.	.;.	1.213019	0.16064	12.29	0.62062331923232983	0.06867	0.00721	0.03037	N	AEFBCI	0.018716	0.00589	N	.	.	.	.	.	.	7.30078675238498E-5	0.04552	0.109238	0.02860	1	0.063085	0.00849	2	0.155693	0.03940	1	0.195052	0.04227	1	.	.	0.566	-0.824	0.10266	0.108000	0.15232	-3.220000	0.02960	0.312000	0.19173	0.030000	0.20431	0.000000	0.08366	0.016000	0.10718	.	.	.	497	0.76227	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.483089	0.444444	0.491848	0.487395	0.375000	0.500000	0.478873	0.492000	0.5	19289.1	458	chr1	16564149	.	C	T	19289.1	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-1.453;DP=2860;ExcessHet=14.2834;FS=1.998;MLEAC=7;MLEAF=0.5;MQ=52.6;MQRankSum=6.43;QD=6.88;ReadPosRankSum=-0.812;SOR=0.526	GT:AD:DP:GQ:PL	0/1:124,69:193:99:1565,0,4886	0	0	7	0
chr1	16567226	16567226	A	C	exonic	NBPF1	.	unknown	UNKNOWN	.	324	803	395	0	0	395	0.197401	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0195	.	0.1438	0.0722	0.1053	0.1226	0.1691	0.1504	0.1502	0.1896	0.10516	16258	154602	rs201533998	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	9.594e-05	0.0001	8.876e-05	0	5.065e-05	0.0007	0.0001	0	0	0.0001	0.0001	0.0001	3.682e-05	0.0001	7.054e-05	0	0.0002	1.377e-05	8.82e-06	1.31e-05	6.63e-06	0	0	0	0.0003	0.0002	0	0	4.936e-05	0	0	.	.	.	0.023	0.61642	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	0.37093	.	.	.	.	.	.	.	0.0041511655	0.00082	T	.	.	.	.	.	.	.	.	.	0.023240658769933194	0.02276	.	.	0.600396811962	0.52961	T	.	.	.	-0.583903	0.00182	T	-0.597232	0.13045	T	.	.	.	0.937806	0.76632	D	.	.	.	.	.	.	.	.	-6.372	0.49291	T	.	.	0.237	0.50016	B	.;.	.;.	1.595410	0.20400	14.73	0.33525994525903774	0.02002	0.02869	0.07640	N	AEFDBHCIJ	0.038534	0.05466	N	.	.	.	.	.	.	0.473035393726149	0.20723	0.383005	0.05895	0	0.152768	0.03566	2	0.457825	0.06646	0	0.393	0.06807	0	.	.	0.39	0.39	0.15500	-0.142000	0.10293	-1.937000	0.04467	0.256000	0.18359	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	491	0.76657	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.146872	0.116162	0.129076	0.131148	0.100000	0.155172	0.179878	0.175573	0.2143	2131.72	101	chr1	16567226	.	A	C	2131.72	.	AC=3;AF=0.214;AN=14;BaseQRankSum=0.974;DP=2770;ExcessHet=1.1394;FS=0.773;MLEAC=3;MLEAF=0.214;MQ=58.09;MQRankSum=-2.042;QD=1.23;ReadPosRankSum=0.017;SOR=0.653	GT:AD:DP:GQ:PL	0/1:361,106:467:99:1797,0,9328	4	0	3	0
chr1	16569091	16569091	T	C	exonic	NBPF1	.	unknown	UNKNOWN	.	375	889	257	1	0	259	0.127148	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0326	.	0.0814	0.0173	0.0368	0.1017	0.0981	0.0848	0.0959	0.1219	0.0584727	9040	154602	rs78194517	0.0008	0.0021	0.0007	0.0008	0.0027	0.0007	0.0007	0.0022	0.0020	0.0002	0.0004	0.0007	0.0027	0.0010	0.0006	0.0007	0.0008	0.0018	0.0002	0.0012	0.0002	0.0002	0.0006	0.0001	0.0001	0.0001	8.673e-05	0.0001	0.0016	0	0	0.0006	0.0003	0	0.0002	0.0008	0.0004	.	.	.	0.292	0.31225	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.04668	.	.	.	.	.	.	.	0.0032458305	0.00055	T	.	.	.	.	.	.	.	.	.	0.019830771613370057	0.01936	.	.	0.407212525606	0.26071	T	.	.	.	-0.874566	0.00001	T	-1.00257	0.00134	T	.	.	.	0.680232	0.28883	T	.	.	.	.	.	.	.	.	-1.717	0.02274	T	.	.	0.125	0.26263	B	.;.	.;.	-0.319513	0.02533	0.303	0.58567040118532776	0.06022	0.00752	0.03125	N	AEFBCI	0.024799	0.01593	N	.	.	.	.	.	.	6.95502039275146E-5	0.04366	0.256867	0.04430	0	0.067947	0.01809	2	0.155693	0.03940	1	0.375513	0.06772	0	.	.	0.575	0.575	0.16558	-0.193000	0.09572	-0.014000	0.13018	-0.478000	0.05075	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	467	0.78285	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.067524	0.046392	0.069482	0.067227	0.100000	0.068966	0.081761	0.073643	0.2857	4008.13	353	chr1	16569091	.	T	C	4008.13	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-1.173;DP=1782;ExcessHet=2.5225;FS=0;MLEAC=4;MLEAF=0.286;MQ=43.63;MQRankSum=-1.456;QD=3.26;ReadPosRankSum=0.533;SOR=0.69	GT:AD:DP:GQ:PL	0/1:141,71:212:99:1219,0,3342	3	0	4	0
chr1	16579293	16579293	A	G	exonic	NBPF1	.	unknown	UNKNOWN	.	529	584	394	15	0	424	0.266332	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4770	0.4924	0.4777	0.4566	0.4691	0.4789	0.4718	0.4739	0.0008837	23	26028	rs4127114	2.64e-05	4.277e-05	2.622e-05	2.658e-05	0.0002	1.812e-05	1.531e-05	0.0001	7.808e-05	0.0002	0	4.461e-05	0.0002	0	0	1.524e-05	2.313e-05	0	0.0002	0.0007	0.0002	0.0002	0.0007	0.0001	0.0001	0.0002	0.0001	0.0003	0	7.295e-05	0	0.0002	0	0	0.0001	0	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.201754	0.190909	0.213499	0.135000	0.071429	0.254386	0.230469	0.197479	0.3571	627.36	36	chr1	16579293	.	A	G	627.36	.	AC=5;AF=0.357;AN=14;BaseQRankSum=0.692;DP=253;ExcessHet=4.7409;FS=122.377;MLEAC=5;MLEAF=0.357;MQ=35.32;MQRankSum=0.416;QD=3.18;ReadPosRankSum=-1.736;SOR=6.735	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:12,2:14:48:0|1:16579293_A_G:48,0,498:16579293	2	0	5	0
chr1	16579294	16579294	T	C	exonic	NBPF1	.	unknown	UNKNOWN	.	528	581	397	16	0	429	0.269642	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4727	0.4891	0.4739	0.4729	0.4642	0.4729	0.4624	0.4674	0.0008837	23	26028	rs4127115	2.497e-05	6.823e-05	2.58e-05	2.42e-05	0.0003	1.689e-05	1.419e-05	0.0001	0.0001	0.0002	0	8.871e-05	0.0003	0	0	8.967e-06	2.286e-05	0	0.0002	0.0010	0.0002	0.0002	0.0004	0.0001	0.0001	0.0001	0.0001	0.0003	0	0.0001	0	0.0004	0.0002	0	0.0001	0	0.0002	.	.	.	0.626	0.11263	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.00407	.	.	.	.	.	.	.	0.0016256273	0.00019	T	.	.	.	.	.	.	.	.	.	0.015250635719149447	0.01481	.	.	0.530770659447	0.43143	T	.	.	.	-0.622413	0.00106	T	-1.13183	0.00013	T	.	.	.	0.49745	0.15470	T	.	.	.	.	.	.	.	.	-6.053	0.46720	T	.	.	0.064	0.01738	B	.;.	.;.	-0.476506	0.01943	0.166	0.24072861881687246	0.01047	0.00011	0.00159	N	AEFI	0.015935	0.00328	N	.	.	.	.	.	.	6.49849957978273E-4	0.07527	0.163922	0.03765	0	0.096583	0.02683	0	0.083675	0.02720	0	0.24341	0.04801	0	.	.	.	.	.	-0.898000	0.04213	-20.000000	0.00162	-1.466000	0.01076	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	445	0.79730	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.180503	0.190909	0.186464	0.120000	0.071429	0.254386	0.206349	0.176471	0.3571	627.36	36	chr1	16579294	.	T	C	627.36	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-3.374;DP=253;ExcessHet=4.7409;FS=122.377;MLEAC=5;MLEAF=0.357;MQ=35.27;MQRankSum=0.416;QD=3.18;ReadPosRankSum=-1.762;SOR=6.735	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:12,2:14:48:0|1:16579293_A_G:48,0,498:16579293	2	0	5	0
chr1	16760446	16760446	C	T	exonic	MST1L	.	nonsynonymous SNV	MST1L:NM_001271733:exon4:c.G383A:p.R128H	.	392	526	598	0	6	604	0.362424	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.397	.	.	0.181909	0.2202	0.1841	0.2823	0.2424	0.2980	0.2226	0.2165	0.1673	0.0075808	1172	154602	rs28462251	1.288e-05	8.414e-05	1.139e-05	1.438e-05	8.359e-05	8.05e-06	6.64e-06	3.866e-05	2.726e-05	0	0	0	2.565e-05	9.971e-05	0	3.769e-06	1.724e-05	8.359e-05	0.0002	0.0011	0.0002	0.0002	0.0002	0.0001	0.0001	9.611e-05	7.423e-05	0.0002	0	0	0	0	0.0009	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4286	2844.02	141	chr1	16760446	.	C	T	2844.02	.	AC=6;AF=0.429;AN=14;BaseQRankSum=2.82;DP=799;ExcessHet=8.2628;FS=21.558;MLEAC=6;MLEAF=0.429;MQ=46.08;MQRankSum=-0.253;QD=4.21;ReadPosRankSum=1.1;SOR=2.08	GT:AD:DP:GQ:PL	0/1:67,17:84:99:350,0,1620	1	0	6	0
chr1	26282323	26282323	A	0	exonic	UBXN11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	6180.35	20	chr1	26282323	.	A	*	6180.35	.	AC=2;AF=0.167;AN=12;DP=158;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=37.15;SOR=1.675	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,4:14:99:1|0:26282320_TCCAGGACAGGGACTGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGA_T:593,417,407:26282320	4	0	2	1
chr1	26282334	26282341	TGGGGCCG	0	exonic	UBXN11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	2483.77	23	chr1	26282334	.	TGGGGCCG	*	2483.77	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.18;DP=171;ExcessHet=0.7136;FS=10.12;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=18.26;ReadPosRankSum=0.472;SOR=1.495	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,4:15:98:1|0:26282320_TCCAGGACAGGGACTGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGA_T:635,459,449:26282320	4	0	2	1
chr1	26282344	26282361	ACCGGGACCGGGACTGGG	0	exonic	UBXN11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	2463.77	24	chr1	26282344	.	ACCGGGACCGGGACTGGG	*	2463.77	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.08;DP=190;ExcessHet=0.7136;FS=9.185;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=16.32;ReadPosRankSum=-0.221;SOR=1.368	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,4:15:98:1|0:26282320_TCCAGGACAGGGACTGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGA_T:635,459,449:26282320	4	0	2	1
chr1	26282357	26282367	CTGGGGCCGGG	0	exonic	UBXN11	.	.	.	.	386	373	210	27	526	790	0.261386	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5833	1231.95	21	chr1	26282357	.	CTGGGGCCGGG	*	1231.95	.	AC=7;AF=0.583;AN=12;DP=190;ExcessHet=0;FS=3.622;MLEAC=8;MLEAF=0.667;MQ=60;QD=8.99;SOR=1.052	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,11:15:39:1|1:26282320_TCCAGGACAGGGACTGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGA_T:537,40,0:26282320	1	2	3	1
chr1	27409716	27409716	C	T	exonic	WASF2	.	nonsynonymous SNV	WASF2:NM_006990:exon8:c.G1315A:p.D439N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.334	0.00864683857434	.	.	9.039e-06	0	0	0	0	1.562e-05	0	0	6.5e-06	1	154602	rs775041444	4.291e-05	4.104e-05	3.907e-05	4.693e-05	5.385e-05	3.366e-05	3.078e-05	4.208e-05	3.842e-05	0	0	0	0	0	0	5.385e-05	1.799e-05	0	1.972e-05	1.97e-05	3.855e-05	0	4.409e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.409e-05	0	0	.	.	.	0.129	0.34837	T	1.0	0.90584	D	0.999	0.92359	D	0.002780	0.35968	N	0.263778	1	0.81001	D	2.07	0.56829	M	.	.	.	.	.	.	0.884	0.88246	-0.6072	0.64519	T	0.269	0.64013	T	10	0.7871884	0.78347	D	0.008647	0.22854	T	.	.	0.521	0.62368	0.433221091474	0.42940	0.4065402994313141	0.40570	.	.	0.825614154339	0.85890	D	0.450762	0.79175	T	-0.0274893	0.47780	T	-0.277263	0.47083	T	0.961611449718475	0.66132	D	0.909409	0.67928	D	0.5014895	0.67182	0.45176658	0.68104	0.5014895	0.67183	0.45176658	0.68105	-4.709	0.33513	T	.	.	0.534	0.66081	A	.	.	4.912321	0.80831	27.4	0.99926266896984273	0.99103	0.98183	0.80324	D	AEFBHCI	0.907320	0.86120	D	0.740149728398348	0.82261	7.719419	0.691905335396001	0.81764	7.603533	0.999999999612894	0.74766	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.69	4.69	0.58546	5.830000	0.69016	5.960000	0.51806	0.589000	0.31548	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	17.223	0.86845	560	0.71333	WH2 domain|WH2 domain|WH2 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	850.44	37	chr1	27409716	.	C	T	850.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.96;DP=266;ExcessHet=0;FS=0.884;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.65;ReadPosRankSum=0.557;SOR=0.866	GT:AD:DP:GQ:PL	0/1:37,36:73:99:861,0,823	6	0	1	0
chr1	37689816	37689816	T	C	exonic	C1orf109	.	nonsynonymous SNV	C1orf109:NM_001303030:exon2:c.A251G:p.E84G,C1orf109:NM_001303031:exon2:c.A254G:p.E85G,C1orf109:NM_001350755:exon2:c.A254G:p.E85G,C1orf109:NM_001350756:exon2:c.A251G:p.E84G,C1orf109:NM_001350760:exon2:c.A65G:p.E22G,C1orf109:NM_001350761:exon2:c.A65G:p.E22G,C1orf109:NM_001350764:exon2:c.A65G:p.E22G,C1orf109:NM_001350769:exon2:c.A65G:p.E22G,C1orf109:NM_001350770:exon2:c.A65G:p.E22G,C1orf109:NM_001350771:exon2:c.A65G:p.E22G,C1orf109:NM_017850:exon2:c.A65G:p.E22G,C1orf109:NM_001350757:exon3:c.A254G:p.E85G,C1orf109:NM_001350759:exon3:c.A251G:p.E84G,C1orf109:NM_001350766:exon3:c.A65G:p.E22G,C1orf109:NM_001350768:exon3:c.A65G:p.E22G,C1orf109:NM_001350758:exon4:c.A251G:p.E84G,C1orf109:NM_001350762:exon4:c.A65G:p.E22G,C1orf109:NM_001350763:exon4:c.A65G:p.E22G,C1orf109:NM_001350765:exon4:c.A65G:p.E22G,C1orf109:NM_001350767:exon4:c.A65G:p.E22G	.	426	1085	11	0	0	11	0.00504356	.	.	.	2251460	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.065	0.00375101218661	0.0005	0.000599042	0.0006	0.0014	0.0011	0	0	0.0004	0.0012	0.0010	0.0005498	85	154602	rs148859861	0.0005	0.0005	0.0004	0.0005	0.0017	0.0004	0.0004	0.0013	0.0012	0.0017	0.0008	3.837e-05	0	0.0002	0.0005	0.0004	0.0005	0.0010	0.0006	0.0006	0.0006	0.0006	0.0012	0.0005	0.0005	0.0009	0.0008	0.0012	0	0.0003	0	0	0.0006	0.0068	0.0004	0.0005	0.0008	0.005	0.63226	D	0.008	0.69154	D	0.51	0.37313	P	0.295	0.40843	B	0.079175	0.21000	N	0.534882	0.994911	0.23414	N	2.62	0.76659	M	.	.	.	-4.02	0.74269	D	0.246	0.27792	-0.9949	0.31326	T	0.112	0.40122	T	9	0.019885123	0.00450	T	0.003751	0.08713	T	0.065	0.18881	.	.	0.482357354261	0.47867	0.24656529055381673	0.24570	0.446814636077	0.44548	.	.	.	0.249044	0.61893	T	-0.389662	0.02704	T	-0.373032	0.36533	T	0.0370971271246813	0.03172	T	0.705629	0.33902	T	0.2671308	0.49784	0.33372772	0.59206	0.2671308	0.49784	0.33372772	0.59206	-5.023	0.37089	T	.	.	0.091	0.18372	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.055667	0.41018	21.3	0.99824226208270916	0.90677	0.55033	0.29763	D	ALL	0.176235	0.30344	N	-0.0177359974260688	0.41053	2.448763	-0.025940280019742	0.38547	2.273	1.0	0.98316	0.627647	0.40530	0	0.52208	0.09955	0	0.672317	0.60874	0	0.241949	0.04745	2	.	.	5.34	2.92	0.32998	0.488000	0.22080	1.543000	0.27241	0.665000	0.62972	0.099000	0.22773	0.967000	0.29559	0.930000	0.46718	0.0:0.0:0.2904:0.7096	11.314	0.48617	880	0.29376	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	166.46	35	chr1	37689816	.	T	C	166.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.292;DP=197;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.1;ReadPosRankSum=-0.168;SOR=1.022	GT:AD:DP:GQ:PL	0/1:8,7:15:99:177,0,215	6	0	1	0
chr1	38018559	38018559	G	C	exonic	UTP11	.	nonsynonymous SNV	UTP11:NM_016037:exon4:c.G324C:p.K108N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.490	0.0167503973626	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0022	0.0007	0.0006	0.0007	0.0006	0.0006	0.0007	0.0007	0.0006	4.502e-05	0.0002	5.069e-05	0	0.0002	0.0007	0.0005	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.011	0.64786	D	0.999	0.77913	D	0.972	0.72692	D	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	3.19	0.88972	M	.	.	.	-4.29	0.76414	D	0.835	0.83066	-0.2270	0.76966	T	0.449	0.78378	T	9	0.83418137	0.82576	D	0.01675	0.38152	T	0.490	0.77720	0.658	0.79585	0.617871938043	0.61477	0.7476237047205977	0.74708	0.921248380214	0.71459	0.757096290588	0.75498	T	0.412309	0.76651	T	0.0450001	0.57697	T	-0.173137	0.57156	T	0.995210707187653	0.87030	D	0.915408	0.69775	D	0.9537454	0.96647	0.87148213	0.92969	0.9537454	0.96648	0.87148213	0.92969	-9.692	0.72047	D	.	.	0.956	0.87520	P	.	.	3.385722	0.46848	22.4	0.99798773293668863	0.88372	0.86532	0.45832	D	AEFBI	0.315619	0.42014	N	0.307375534586297	0.56526	3.817	0.217027884145324	0.50791	3.267573	0.186501081710576	0.17944	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	6.07	2.22	0.27116	0.341000	0.19652	2.649000	0.33803	-0.102000	0.15922	0.995000	0.38783	1.000000	0.68203	0.994000	0.71098	0.729:0.0:0.271:0.0	9.297	0.36983	409	0.82198	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	124.49	35	chr1	38018559	.	G	C	124.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.868;DP=258;ExcessHet=0;FS=45.619;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=4.98;ReadPosRankSum=0.682;SOR=5.548	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:18,7:25:99:0|1:38018559_G_C:135,0,636:38018559	6	0	1	0
chr1	38018561	38018564	GGGT	-	exonic	UTP11	.	frameshift deletion	UTP11:NM_016037:exon4:c.326_329del:p.R109Mfs*10	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.578e-05	6.777e-05	2.184e-05	9.651e-06	3e-05	1.051e-05	8.78e-06	1.217e-05	1.033e-05	3e-05	0	0	0	0	0	1.894e-05	1.66e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	124.42	35	chr1	38018560	.	AGGGT	A	124.42	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.468;DP=256;ExcessHet=0;FS=22.825;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=4.98;ReadPosRankSum=0.061;SOR=4.163	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:18,7:25:99:0|1:38018559_G_C:135,0,636:38018559	6	0	1	0
chr1	38018564	38018564	-	CCCC	exonic	UTP11	.	frameshift insertion	UTP11:NM_016037:exon4:c.329_330insCCCC:p.A111Pfs*5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	125.18	33	chr1	38018564	.	T	TCCCC	125.18	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.446;DP=221;ExcessHet=0;FS=22.825;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=5.01;ReadPosRankSum=-0.394;SOR=4.163	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:18,7:25:99:0|1:38018559_G_C:135,0,636:38018559	5	0	1	1
chr1	40060154	40060154	G	A	exonic	CAP1	.	nonsynonymous SNV	CAP1:NM_001105530:exon3:c.G200A:p.G67E,CAP1:NM_001330502:exon3:c.G197A:p.G66E,CAP1:NM_001350476:exon3:c.G200A:p.G67E,CAP1:NM_001350477:exon3:c.G200A:p.G67E,CAP1:NM_001350479:exon3:c.G200A:p.G67E,CAP1:NM_001350480:exon3:c.G200A:p.G67E,CAP1:NM_001350481:exon3:c.G200A:p.G67E,CAP1:NM_001350482:exon3:c.G197A:p.G66E,CAP1:NM_001350483:exon3:c.G197A:p.G66E,CAP1:NM_001350485:exon3:c.G197A:p.G66E,CAP1:NM_006367:exon3:c.G200A:p.G67E,CAP1:NM_001350475:exon4:c.G200A:p.G67E,CAP1:NM_001350478:exon4:c.G200A:p.G67E,CAP1:NM_001350484:exon4:c.G197A:p.G66E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.425	0.0373370373379	8.1e-05	.	1.66e-05	0.0002	0	0	0	0	0	0	1.29e-05	2	154602	rs376589224	2.396e-05	2.463e-05	1.771e-05	3.027e-05	0.0002	1.74e-05	1.54e-05	9.25e-06	4.56e-06	2.989e-05	0	0	0	0.0005	0.0002	3.599e-06	0	3.481e-05	2.628e-05	2.627e-05	1.285e-05	4.035e-05	0.0002	8.14e-06	5.14e-06	.	.	0	0	0	0	0	0.0003	0	0	0	0.0002	0.001	0.91255	D	0.054	0.76473	T	0.992	0.64738	D	0.958	0.70027	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.545	0.74286	M	2.46	0.14907	T	-6.5	0.94196	D	0.792	0.84817	-1.0089	0.27261	T	0.123	0.42631	T	10	0.57711035	0.65642	D	0.037337	0.57553	D	0.425	0.73299	.	.	0.528830345288	0.52531	0.7501960788742058	0.74966	1.17654709579	0.79884	0.712272524834	0.68923	T	0.188494	0.54243	T	-0.018045	0.49132	T	-0.082169	0.64744	T	0.768926739692688	0.44374	D	0.745725	0.40735	T	0.9308595	0.94322	0.9476217	0.98254	0.9308595	0.94323	0.9476217	0.98254	-4.794	0.35328	T	.	.	0.221	0.55264	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.	4.455580	0.69304	25.4	0.99800227409320841	0.88550	0.92216	0.55205	D	AEFDGBCI	0.942564	0.94731	D	0.826759716214696	0.87750	9.326812	0.811330728933706	0.90570	10.46773	0.999999999997821	0.74766	0.730579	0.87903	0	0.749866	0.99406	0	0.698795	0.65105	0	0.648885	0.59868	0	.	.	5.47	5.47	0.80345	7.479000	0.80115	10.017000	0.83119	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0:1.0:0.0	18.670	0.91465	286	0.88678	Adenylate cyclase-associated CAP, N-terminal;.;Adenylate cyclase-associated CAP, N-terminal;Adenylate cyclase-associated CAP, N-terminal;Adenylate cyclase-associated CAP, N-terminal;Adenylate cyclase-associated CAP, N-terminal;Adenylate cyclase-associated CAP, N-terminal;.;.;Adenylate cyclase-associated CAP, N-terminal;Adenylate cyclase-associated CAP, N-terminal;Adenylate cyclase-associated CAP, N-terminal;Adenylate cyclase-associated CAP, N-terminal;Adenylate cyclase-associated CAP, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	431.27	33	chr1	40060154	.	G	A	431.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.678;DP=201;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=18.75;ReadPosRankSum=-0.549;SOR=0.722	GT:AD:DP:GQ:PL	0/1:8,15:23:99:441,0,176	5	0	1	1
chr1	42735803	42735803	G	C	exonic	CLDN19	.	nonsynonymous SNV	CLDN19:NM_001185117:exon3:c.C616G:p.Q206E	Hypomagnesemia 5, renal, with ocular involvement, Autosomal recessive	1	1499	22	0	0	22	0.00728477	.	.	.	1274749	Renal_hypomagnesemia_5_with_ocular_involvement|not_provided	MONDO:MONDO:0009548,MedGen:C4721891,OMIM:248190,Orphanet:2196|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.118	0.0151173911199	.	0.000798722	0.0039	0.0021	0	0	0	0.0052	0.0062	0.0036	0.0012678	196	154602	rs199656937	0.0031	0.0030	0.0030	0.0032	0.0106	0.0030	0.0030	0.0085	0.0077	0.0008	0.0014	0.0071	2.794e-05	0.0005	0.0106	0.0033	0.0035	0.0034	0.0017	0.0017	0.0017	0.0018	0.0026	0.0016	0.0015	0.0023	0.0022	0.0006	0	0.0012	0.0040	0	0.0008	0.0103	0.0026	0.0028	0.0017	0.0	0.91255	D	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-2.06	0.85875	D	0.34	0.03824	N	0.159	0.16586	-0.8451	0.52304	T	0.243	0.61095	T	9	0.0043708086	0.00089	T	0.015117	0.35666	T	0.118	0.32913	.	.	0.471132149292	0.46741	.	.	.	.	.	.	.	.	.	.	-0.439585	0.01300	T	-0.404081	0.32910	T	0.00960231344622355	0.00125	T	0.382862	0.09330	T	.	.	.	.	.	.	.	.	-4.102	0.25320	T	.	.	0.085	0.10256	B	.	.	0.188582	0.05752	2.194	0.50048909106492712	0.04316	0.12048	0.17027	N	AEFBI	0.116089	0.22798	N	-1.18940987684387	0.05160	0.2345465	-1.17931876156142	0.06256	0.300566	0.945552775036207	0.27666	0.695654	0.57023	0	0.547309	0.14657	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	4.17	0.923	0.18539	-0.409000	0.07223	0.808000	0.21724	0.660000	0.55035	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.1925:0.0:0.649:0.1585	5.542	0.16333	507	0.75469	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.011076	0.016667	0.009915	0.020833	0.000000	0.009615	0.003145	0.007752	0.07143	483.45	36	chr1	42735803	.	G	C	483.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.514;DP=227;ExcessHet=0;FS=4.057;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.07;ReadPosRankSum=0.811;SOR=1.191	GT:AD:DP:GQ:PL	0/1:27,21:48:99:494,0,761	6	0	1	0
chr1	43404501	43404501	A	T	exonic	SZT2	.	nonsynonymous SNV	SZT2:NM_001365999:exon4:c.A449T:p.Y150F,SZT2:NM_015284:exon4:c.A449T:p.Y150F	Epileptic encephalopathy, early infantile, 18, Autosomal recessive	424	1094	4	0	0	4	0.00182482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.00216105318515	.	.	8.242e-06	0	0	0	0	0	0.0011	0	6.5e-06	1	154602	rs780984579	4.105e-06	4.104e-06	2.723e-06	5.501e-06	0.0007	1.48e-06	9.7e-07	0.0002	0.0001	0	0	0	0	0	0.0007	0	1.656e-05	1.159e-05	1.315e-05	1.314e-05	1.285e-05	1.345e-05	1.47e-05	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0.0005	0	0.214	0.30943	T	0.406	0.28860	T	0.004	0.12183	B	0.004	0.10090	B	.	.	.	.	0.904285	0.27639	N	-0.435	0.02851	N	2.25	0.17761	T	-2.21	0.49684	N	0.343	0.50598	-1.1053	0.03507	T	0.038	0.16290	T	9	0.20520261	0.36738	T	0.002161	0.04043	T	0.124	0.34239	0.583	0.70990	0.18274738541	0.17906	0.2001998975820625	0.19936	1.04755800621	0.76010	0.521323204041	0.41813	T	0.143438	0.47955	T	-0.145717	0.28983	T	-0.447089	0.28019	T	0.440175589795465	0.30436	T	0.907509	0.68535	D	0.080000766	0.18307	0.14035058	0.33457	0.080000766	0.18307	0.14035058	0.33456	-5.012	0.36970	T	0.0961516864033424	0.06622	0.095	0.19276	B	.;.;.	.;.;.	2.427128	0.31222	18.68	0.97275464218713525	0.33158	0.81882	0.41199	D	AEFBHCI	0.119880	0.23378	N	0.0721670592179741	0.45168	2.777869	0.261011721153027	0.53276	3.497521	0.998796026328999	0.37689	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.8	5.8	0.92081	6.360000	0.73005	11.182000	0.88348	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.953000	0.50222	0.7408:0.0:0.0:0.2592	9.686	0.39263	758	0.50837	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	708.46	34	chr1	43404501	.	A	T	708.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.724;DP=215;ExcessHet=0;FS=6.793;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=19.68;ReadPosRankSum=-1.66;SOR=0.114	GT:AD:DP:GQ:PL	0/1:7,29:36:99:719,0,139	6	0	1	0
chr1	43432374	43432374	G	A	exonic	SZT2	.	nonsynonymous SNV	SZT2:NM_015284:exon36:c.G5206A:p.E1736K,SZT2:NM_001365999:exon37:c.G5377A:p.E1793K	Epileptic encephalopathy, early infantile, 18, Autosomal recessive	421	1098	3	0	0	3	0.00136426	.	.	.	391229	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.269	0.00295310743834	0.0002	0.000199681	0.0003	0.0001	0.0003	0	0	0.0002	0.0036	0.0007	0.0002393	37	154602	rs143185010	0.0001	0.0001	0.0001	0.0002	0.0046	0.0001	0.0001	0.0032	0.0027	0.0002	0.0002	3.936e-05	0	0	0.0046	0.0001	0.0003	0.0003	9.85e-05	9.843e-05	0.0001	6.715e-05	0.0002	6.003e-05	4.877e-05	6.804e-05	5.088e-05	2.407e-05	0	0.0002	0	0	0	0.0068	0.0001	0	0	0.011	0.55530	D	0.463	0.12957	T	0.232	0.30664	B	0.192	0.36449	B	0.375072	0.13470	N	0.730141	0.999695	0.20667	N	0.69	0.16971	N	.	.	.	-1.4	0.34596	N	0.275	0.31140	-0.9691	0.37386	T	0.088	0.34050	T	9	0.07878429	0.12596	T	0.002953	0.06280	T	.	.	.	.	0.298403945805	0.29456	0.3392097734243437	0.33833	0.306330383536	0.32929	0.410071462393	0.26466	T	0.059905	0.31241	T	-0.300855	0.08579	T	-0.335784	0.40821	T	0.0463018208227961	0.04839	T	0.79972	0.44511	T	0.111914635	0.26444	0.18193497	0.41089	0.111914635	0.26444	0.18193497	0.41088	-4.604	0.32410	T	0.3257442783579565	0.42389	0.071	0.03698	B	.;.	.;.	3.928869	0.57408	23.9	0.94586854955445421	0.25134	0.93584	0.58617	D	AEFDBI	0.291440	0.40256	N	-0.118482295199528	0.36589	2.116908	-0.00634253699976972	0.39427	2.337606	0.993324632538448	0.33171	0.562547	0.31514	0	0.653731	0.59785	0	0.670488	0.60580	0	0.635551	0.53088	0	.	.	5.79	5.79	0.91751	4.755000	0.61895	11.778000	0.96035	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.434000	0.27538	0.0:0.0:1.0:0.0	15.542	0.75795	771	0.49057	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.003021	0.010101	0.002717	0.002924	0.000000	0.000000	0.003049	0.000000	0.07143	879.44	37	chr1	43432374	.	G	A	879.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.12;DP=233;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=17.24;ReadPosRankSum=-0.107;SOR=0.844	GT:AD:DP:GQ:PL	0/1:19,32:51:99:890,0,421	6	0	1	0
chr1	44704096	44704096	T	C	exonic	ARMH1	.	nonsynonymous SNV	ARMH1:NM_001145636:exon6:c.T647C:p.I216T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.0148597894399	0.0007	.	0.0005	0.0005	0	0	0	0.0012	0	0	9.7e-05	15	154602	rs372170670	0.0002	0.0002	0.0002	0.0002	0.0004	0.0002	0.0001	6.165e-05	4.501e-05	6.334e-05	8.405e-05	0.0054	0	0	0.0004	6.12e-05	0.0006	1.262e-05	0.0002	0.0002	0.0003	0.0001	0.0001	0.0002	0.0001	7.923e-05	6.004e-05	4.856e-05	0	0	0.0061	0	0	0	0.0001	0	0	0.015	0.61437	D	0.018	0.66756	D	0.302	0.32608	B	0.085	0.29395	B	0.156354	0.17802	N	0.602490	0.999932	0.19363	N	.	.	.	0.85	0.47130	T	-1.68	0.40082	N	0.175	0.18784	-0.9703	0.37136	T	0.095	0.35924	T	10	0.009207785	0.00208	T	0.01486	0.35248	T	0.100	0.28662	.	.	0.110078149338	0.10416	0.19456755825760388	0.19374	.	.	.	.	.	0.043217	0.26430	T	-0.274224	0.11291	T	-0.395011	0.33966	T	0.049828688566822	0.05471	T	0.732227	0.34774	T	0.13492648	0.31332	0.13655627	0.32664	0.13492648	0.31331	0.13655627	0.32663	-7.129	0.54970	T	.	.	0.120	0.24901	B	.;.;.	.;.;.	2.861504	0.37813	20.6	0.98826753471081563	0.46886	0.97266	0.73678	D	AEFBI	0.631944	0.61274	D	-0.153631679218391	0.35080	2.010456	-0.057324448522878	0.37174	2.173098	0.999902894585159	0.45458	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.24	5.24	0.72863	6.269000	0.72536	4.130000	0.42025	0.660000	0.55035	0.940000	0.32642	0.778000	0.26755	0.004000	0.06068	0.0:0.0:0.0:1.0	14.169	0.65037	0	0.99858	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	634.53	39	chr1	44704096	.	T	C	634.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.559;DP=251;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.76;ReadPosRankSum=1.54;SOR=0.593	GT:AD:DP:GQ:PL	0/1:17,26:43:99:645,0,368	6	0	1	0
chr1	46613215	46613215	G	C	exonic	MOB3C	.	nonsynonymous SNV	MOB3C:NM_145279:exon2:c.C107G:p.A36G,MOB3C:NM_201403:exon2:c.C107G:p.A36G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.582	0.0139583808919	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.01	0.76473	D	1.0	0.90584	D	0.995	0.83170	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.385	0.91502	M	.	.	.	-3.89	0.72820	D	0.774	0.77132	0.264	0.86973	D	0.557	0.83845	D	9	0.6686675	0.70580	D	0.013958	0.33748	T	0.582	0.83193	0.642	0.77903	0.707347941332	0.70479	0.38905998175117595	0.38820	0.572858510513	0.53358	0.764638364315	0.76621	T	0.131582	0.46340	T	0.285581	0.81788	D	0.172441	0.81555	D	0.994002064544445	0.85055	D	0.990601	0.97065	D	0.75960207	0.81429	0.73670983	0.84438	0.75960207	0.81431	0.73670983	0.84440	-7.806	0.59740	D	.	.	0.649	0.77163	P	.;.;.	.;.;.	4.951349	0.81797	27.6	0.99793096647677015	0.87839	0.96467	0.69283	D	AEFDBHCI	0.898988	0.84287	D	0.950088505148483	0.93988	12.421	0.892121511922027	0.95220	13.41926	1.0	0.98316	0.660085	0.49399	0	0.662677	0.63036	0	0.735289	0.94003	0	0.683762	0.67416	0	.	.	5.31	5.31	0.75063	9.951000	0.98966	11.917000	0.99728	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	17.964	0.89013	173	0.93306	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	297.96	71	chr1	46613215	.	G	C	297.96	.	AC=4;AF=0.5;AN=8;BaseQRankSum=-2.807;DP=807;ExcessHet=3.1439;FS=124.913;MLEAC=5;MLEAF=0.625;MQ=60;MQRankSum=0;QD=0.53;ReadPosRankSum=1.38;SOR=9.704	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:72,20:92:10:0|1:46613214_G_C:10,0,1653:46613214	0	0	4	3
chr1	85158755	85158755	A	G	exonic	SYDE2	.	nonsynonymous SNV	SYDE2:NM_032184:exon7:c.T3580C:p.F1194L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	0.00654077122755	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.59e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.23905	T	0.034	0.52727	D	0.0	0.02946	B	0.0	0.01387	B	0.089341	0.20432	N	0.527396	0.998858	0.21853	N	0	0.06538	N	3.28	0.06523	T	1.02	0.01369	N	0.042	0.01498	-0.9316	0.43903	T	0.002	0.00615	T	10	0.023369968	0.00610	T	0.006541	0.17243	T	0.020	0.03691	0.21	0.12781	0.0551355673512	0.04727	0.06610387111215123	0.06549	0.14237696093	0.16047	0.397826164961	0.24766	T	0.004802	0.04217	T	-0.355873	0.04369	T	-0.748963	0.03526	T	0.219421803951263	0.21435	T	0.513449	0.16474	T	0.053474132	0.10124	0.045122	0.05999	0.053474132	0.10124	0.045122	0.05999	-2.743	0.07671	T	.	.	0.392	0.59120	A	.	.	2.506013	0.32358	19.02	0.99124857947199441	0.53089	0.82995	0.42152	D	AEFGBI	0.191288	0.31849	N	-0.773932366158561	0.13992	0.6934386	-0.537640718649593	0.21134	1.141888	0.0731348463355377	0.15624	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.97	2.91	0.32903	2.498000	0.45023	3.315000	0.37496	-0.114000	0.14653	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.3343:0.3872:0.1116:0.1669	1.797	0.02879	676	0.60355	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2143	111.07	31	chr1	85158755	.	A	G	111.07	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-1.821;DP=278;ExcessHet=1.1394;FS=58.704;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=1.04;ReadPosRankSum=0.66;SOR=6.264	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:19,5:24:40:0|1:85158755_A_G:40,0,661:85158755	4	0	3	0
chr1	85158757	85158757	C	T	exonic	SYDE2	.	nonsynonymous SNV	SYDE2:NM_032184:exon7:c.G3578A:p.S1193N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	0.0109281839246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.081	0.41742	T	0.958	0.54977	D	0.477	0.46994	P	0.000003	0.62929	D	0.141141	0.841424	0.28625	N	2.89	0.83701	M	3.01	0.09075	T	-1.36	0.33798	N	0.206	0.22870	-1.0896	0.05599	T	0.013	0.05273	T	10	0.1897026	0.34581	T	0.010928	0.28020	T	0.125	0.34456	0.093	0.01151	0.236890367714	0.23314	0.17515521952640145	0.17434	0.264699697906	0.29017	0.548633217812	0.45665	T	0.019491	0.15519	T	-0.177965	0.24039	T	-0.493411	0.23033	T	0.97476464509964	0.70646	D	0.379762	0.09155	T	0.4281341	0.62630	0.3544614	0.60990	0.4281341	0.62630	0.3544614	0.60990	-4.729	0.33754	T	.	.	0.092	0.13783	B	.	.	2.612422	0.33929	19.48	0.99246127042489396	0.56727	0.95586	0.65314	D	AEFGBI	0.675178	0.64065	D	0.296660874281403	0.55980	3.76211	0.369003311841199	0.59662	4.145805	0.995644873868107	0.34242	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.97	5.05	0.67566	3.147000	0.50335	2.710000	0.34229	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.7371:0.2629:0.0	15.424	0.74759	676	0.60355	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	580.22	31	chr1	85158757	.	C	T	580.22	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.575;DP=313;ExcessHet=11.5949;FS=185.984;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=2.13;ReadPosRankSum=0.994;SOR=8.739	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:19,5:24:40:0|1:85158755_A_G:40,0,661:85158755	5	0	1	1
chr1	86560319	86560319	C	T	exonic	CLCA4	.	nonsynonymous SNV	CLCA4:NM_012128:exon3:c.C409T:p.L137F	.	427	1070	24	1	0	26	0.0120037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.00244206833483	0.0008	0.000199681	0.0011	0.0002	0.0008	0	0	0.0016	0.0056	0.0010	0.0011125	172	154602	rs55712824	0.0010	0.0010	0.0010	0.0011	0.0322	0.0010	0.0010	0.0285	0.0270	0.0013	0.0018	0.0004	2.519e-05	3.744e-05	0.0322	0.0008	0.0023	0.0013	0.0011	0.0011	0.0012	0.0011	0.0024	0.0010	0.0009	0.0018	0.0016	0.0005	0.0044	0.0024	0.0009	0	9.425e-05	0.0238	0.0012	0.0038	0.0015	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.000135	0.49741	N	0.175187	1	0.81001	D	-3.32	0.00005	N	3.15	0.07820	T	4.44	0.00038	N	0.113	0.10056	-0.9399	0.42632	T	0.001	0.00348	T	10	0.004258901	0.00085	T	0.002442	0.04813	T	0.048	0.13305	.	.	0.0297737177859	0.01360	0.38250703500181077	0.38165	0.0722242068583	0.08101	0.392732053995	0.24053	T	0.045084	0.27013	T	-0.646459	0.00076	T	-0.725997	0.04511	T	0.0125906612122404	0.00210	T	0.456654	0.13107	T	0.036146015	0.04390	0.04545757	0.06119	0.036146015	0.04390	0.04545757	0.06119	2.739	0.00027	T	.	.	0.057	0.00533	B	.	.	-0.329020	0.02492	0.292	0.13663901923835356	0.00276	0.07556	0.13568	N	AEFGBI	0.031100	0.03257	N	-1.18467785776454	0.05232	0.2380014	-0.903761612092136	0.12006	0.6150653	7.15270857349529E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.74	-0.186	0.12620	0.913000	0.28233	-0.401000	0.09410	-0.732000	0.03721	1.000000	0.71638	0.000000	0.08366	0.850000	0.40195	0.1139:0.0658:0.2095:0.6108	4.55	0.11507	808	0.43318	Calcium-activated chloride channel, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.037261	0.050505	0.025815	0.087719	0.050000	0.077586	0.000000	0.018939	0.07143	508.63	36	chr1	86560319	.	C	T	508.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.067;DP=218;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.89;ReadPosRankSum=-0.175;SOR=0.776	GT:AD:DP:GQ:PL	0/1:12,20:32:99:519,0,262	6	0	1	0
chr1	110222977	110222977	C	G	exonic	KCNC4	.	nonsynonymous SNV	KCNC4:NM_001039574:exon2:c.C692G:p.A231G,KCNC4:NM_001377330:exon2:c.C692G:p.A231G,KCNC4:NM_004978:exon2:c.C692G:p.A231G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.456	0.0722916072849	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0034	0.0008	0.0006	0.0008	0.0007	0.0006	0.0008	0.0008	0.0008	0	0.0003	0.0002	1.877e-05	0.0002	0.0008	0.0008	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.35918	T	0.315	0.21144	T	0.051	0.42493	B	0.157	0.41053	B	0.000921	0.41028	D	0.275191	0.99437	0.42258	D	2.415	0.69758	M	-4.19	0.96908	D	-2.8	0.59226	D	0.438	0.47672	0.589	0.91750	D	0.723	0.90514	D	10	0.35339242	0.52146	T	0.072292	0.71493	D	0.456	0.75483	0.363	0.36874	0.993177892102	0.99310	0.7526387987383419	0.75210	1.08132311467	0.77145	0.672360956669	0.63174	T	0.667086	0.90076	D	0.175355	0.71615	D	0.0141088	0.71248	D	0.842766284942627	0.49555	D	0.923008	0.74652	D	0.2548791	0.48519	0.22605044	0.47570	0.2548791	0.48519	0.22605044	0.47569	-8.263	0.63102	D	.	.	0.237	0.47944	B	.;.;.	.;.;.	3.598856	0.50823	23.0	0.99047415397653182	0.51162	0.96210	0.68040	D	AEFDGBI	0.477094	0.52023	N	0.0886515093145786	0.45935	2.841749	0.218624017239798	0.50879	3.275622	0.993656479131254	0.33302	0.651	0.46895	0	0.588066	0.40923	0	0.723109	0.80598	0	0.683762	0.67416	0	.	.	4.88	4.88	0.63131	2.965000	0.48892	7.666000	0.64515	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.9187:0.0:0.0813	11.857	0.51719	702	0.57624	Ion transport domain;Ion transport domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	191.13	70	chr1	110222977	.	C	G	191.13	.	AC=2;AF=0.25;AN=8;BaseQRankSum=-1.354;DP=601;ExcessHet=0.4139;FS=121.961;MLEAC=3;MLEAF=0.375;MQ=60;MQRankSum=0;QD=1.21;ReadPosRankSum=2.62;SOR=7.512	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:40,12:52:99:0|1:110222977_C_G:165,0,1485:110222977	2	0	2	3
chr1	110222980	110222980	C	G	exonic	KCNC4	.	nonsynonymous SNV	KCNC4:NM_001039574:exon2:c.C695G:p.S232C,KCNC4:NM_001377330:exon2:c.C695G:p.S232C,KCNC4:NM_004978:exon2:c.C695G:p.S232C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.929	0.40933610176	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.636e-05	0.0009	7.295e-05	5.971e-05	8.013e-05	5.553e-05	5.161e-05	6.603e-05	6.157e-05	3.015e-05	0	0	2.525e-05	0	0	8.013e-05	6.68e-05	2.327e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.992	0.90584	D	0.945	0.73362	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.905	0.96153	H	-4.48	0.97606	D	-4.53	0.78388	D	0.831	0.82660	1.099	0.99607	D	0.949	0.98331	D	10	0.8837731	0.87697	D	0.409336	0.93564	D	0.929	0.98304	0.653	0.79068	0.998239969463	0.99822	0.9428938060723817	0.94271	2.16590570783	0.95413	0.900061309338	0.96447	D	0.865354	0.97046	D	0.507574	0.94527	D	0.491319	0.94446	D	0.996615469455719	0.89714	D	0.968103	0.88413	D	0.81521255	0.84899	0.67973554	0.81184	0.81521255	0.84900	0.67973554	0.81185	-14.23	0.93792	D	.	.	0.990	0.93569	P	.;.;.	.;.;.	5.345809	0.89688	31	0.99023122748486747	0.50634	0.99055	0.90567	D	AEFDGBI	0.873031	0.79518	D	0.820546623686913	0.87372	9.195578	0.766985295263051	0.87421	9.215925	0.999999999988739	0.74766	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	4.88	4.88	0.63131	7.905000	0.86479	7.666000	0.64515	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	18.385	0.90408	702	0.57624	Ion transport domain;Ion transport domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	149.26	91	chr1	110222980	.	C	G	149.26	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.516;DP=553;ExcessHet=0;FS=78.615;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=2.76;ReadPosRankSum=2.78;SOR=6.626	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:42,12:54:99:0|1:110222977_C_G:159,0,1548:110222977	5	0	1	1
chr1	110222982	110222982	C	G	exonic	KCNC4	.	nonsynonymous SNV	KCNC4:NM_001039574:exon2:c.C697G:p.L233V,KCNC4:NM_001377330:exon2:c.C697G:p.L233V,KCNC4:NM_004978:exon2:c.C697G:p.L233V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.597	0.146920177704	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	6.84e-07	1.362e-06	0	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	0.11919	T	0.578	0.10643	T	0.008	0.27402	B	0.057	0.26280	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.105	0.28596	L	-4.42	0.97469	D	-1.47	0.35991	N	0.715	0.71765	0.475	0.90190	D	0.781	0.92551	D	10	0.67977595	0.71209	D	0.14692	0.82899	D	0.597	0.84019	0.507	0.60232	0.970349058238	0.97003	0.7767111040505488	0.77621	2.1969115238	0.95663	0.860170543194	0.91136	D	0.382192	0.74433	T	0.19509	0.73434	D	0.0424575	0.73088	D	0.898567736148834	0.55069	D	0.959204	0.87416	D	0.3946045	0.60357	0.26400998	0.52214	0.3946045	0.60357	0.26400998	0.52213	-7.933	0.60613	D	.	.	0.865	0.82233	P	.;.;.	.;.;.	3.881184	0.56413	23.7	0.97300471871801075	0.33275	0.99055	0.90567	D	AEFDGBI	0.882603	0.81085	D	-0.0424401364828146	0.39940	2.363618	0.150967903423767	0.47194	2.953265	0.999999999988739	0.74766	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	4.88	4.88	0.63131	6.148000	0.71557	7.666000	0.64515	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	18.385	0.90408	702	0.57624	Ion transport domain;Ion transport domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	133.22	78	chr1	110222982	.	C	G	133.22	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-4.234;DP=557;ExcessHet=0;FS=76.089;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=2.56;ReadPosRankSum=2.72;SOR=6.584	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:41,11:52:99:0|1:110222977_C_G:143,0,1520:110222977	5	0	1	1
chr1	113590590	113590590	G	C	exonic	MAGI3	.	nonsynonymous SNV	MAGI3:NM_001142782:exon5:c.G870C:p.E290D,MAGI3:NM_152900:exon5:c.G870C:p.E290D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122	0.00487564636394	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0045	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	2.242e-05	0	5.08e-05	0	0	0.0002	0.0002	7.081e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.03085	T	1.0	0.04079	T	0.069	0.23796	B	0.051	0.25434	B	0.000007	0.62929	D	0.142947	0.643051	0.32894	D	1.54	0.38927	L	2.69	0.14783	T	1.32	0.01107	N	0.162	0.19995	-1.0079	0.27572	T	0.007	0.02399	T	10	0.03753224	0.02113	T	0.004876	0.12224	T	0.122	0.33800	0.268	0.21576	0.143184338766	0.13958	0.2702843826030742	0.26941	0.165123761365	0.18624	0.563049614429	0.47698	T	0.039485	0.25206	T	-0.238336	0.15562	T	-0.580129	0.14534	T	0.164513646206508	0.18199	T	0.848015	0.52922	T	0.07584618	0.17116	0.059709318	0.11252	0.07584618	0.17115	0.059709318	0.11251	-8.114	0.61845	D	.	.	0.077	0.06205	B	.;.;.;.	.;.;.;.	2.279428	0.29141	18.03	0.061631012715648595	0.00020	0.49120	0.28361	N	AEFDI	0.108624	0.21602	N	-0.944723580309123	0.09811	0.4660299	-0.857016727595564	0.13119	0.6788146	4.96757964133831E-4	0.07150	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.9	-0.268	0.12295	-0.048000	0.11898	1.843000	0.29202	-0.796000	0.03208	0.834000	0.30193	1.000000	0.68203	0.976000	0.56436	0.5848:0.0:0.4152:0.0	11.346	0.48798	538	0.73119	.;Guanylate kinase/L-type calcium channel beta subunit;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4	1784.33	27	chr1	113590590	.	G	C	1784.33	.	AC=4;AF=0.4;AN=10;BaseQRankSum=-1.12;DP=426;ExcessHet=3.1439;FS=635.154;MLEAC=5;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.83;ReadPosRankSum=1.19;SOR=9.472	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:30,6:36:44:0|1:113590590_G_C:44,0,772:113590590	1	0	4	2
chr1	114732648	114732648	C	G	exonic	CSDE1	.	nonsynonymous SNV	CSDE1:NM_001242893:exon8:c.G913C:p.V305L,CSDE1:NM_001242892:exon9:c.G1006C:p.V336L,CSDE1:NM_007158:exon9:c.G913C:p.V305L,CSDE1:NM_001007553:exon10:c.G1006C:p.V336L,CSDE1:NM_001130523:exon10:c.G1051C:p.V351L,CSDE1:NM_001242891:exon11:c.G1144C:p.V382L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	0.00302580783907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.572e-05	0.0005	3.966e-05	3.175e-05	4.338e-05	2.774e-05	2.512e-05	3.36e-05	2.971e-05	0	0	3.834e-05	0	0	0	4.338e-05	3.322e-05	1.161e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.019	0.17989	B	0.007	0.12992	B	0.000054	0.53742	D	0.166893	0.995854	0.46032	D	-1.005	0.01165	N	.	.	.	1.46	0.00775	N	0.49	0.52651	-0.9514	0.40730	T	0.015	0.06186	T	9	0.1688331	0.31457	T	0.003026	0.06487	T	0.141	0.37795	0.283	0.23961	0.438345833192	0.43453	0.47999988597583465	0.47919	0.664778676347	0.59103	0.696112155914	0.66584	T	0.116941	0.43665	T	-0.00863497	0.50457	T	-0.25018	0.49799	T	0.698000967502594	0.40624	D	0.917108	0.76468	D	0.059146494	0.11985	0.09358893	0.22112	0.059146494	0.11985	0.09358893	0.22111	-6.727	0.59015	T	.	.	0.240	0.47513	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.228914	0.64023	24.7	0.79526294004721843	0.12782	0.91046	0.52754	D	AEFBCI	0.679294	0.64337	D	-0.4128236221243	0.25018	1.355104	-0.0758002100467609	0.36392	2.117378	0.809094888011598	0.24323	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.89	5.89	0.94758	4.456000	0.59820	7.732000	0.67763	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.1424:0.8576:0.0:0.0	15.011	0.71206	854	0.34840	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3571	1393.41	90	chr1	114732648	.	C	G	1393.41	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-1.763;DP=766;ExcessHet=4.7409;FS=287.227;MLEAC=5;MLEAF=0.357;MQ=60;MQRankSum=0;QD=2.53;ReadPosRankSum=1.54;SOR=11.262	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:35,23:58:99:0|1:114732647_A_G:191,0,516:114732647	2	0	5	0
chr1	116393708	116393708	G	A	exonic	ATP1A1	.	nonsynonymous SNV	ATP1A1:NM_000701:exon12:c.G1645A:p.G549R,ATP1A1:NM_001160233:exon12:c.G1645A:p.G549R,ATP1A1:NM_001160234:exon12:c.G1552A:p.G518R	.	.	.	.	.	.	.	.	.	.	YES	1289744	Charcot-Marie-tooth_disease,_axonal,_type_2DD|not_provided	MONDO:MONDO:0054833,MedGen:C4747974,OMIM:618036,Orphanet:521414|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.947	0.388793938573	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.775	0.95212	H	-2.18	0.86722	D	-6.56	0.91998	D	0.971	0.98167	1.024	0.97604	D	0.877	0.95918	D	10	0.964036	0.95854	D	0.388794	0.93140	D	0.947	0.98955	0.83	0.93978	0.989019659197	0.98889	0.9898287690295384	0.98977	2.79814820781	0.98885	0.896514296532	0.96044	D	0.904717	0.98158	D	0.473999	0.93487	D	0.44309	0.93406	D	0.998376488685608	0.93972	D	0.968703	0.88660	D	0.84082335	0.86667	0.7746958	0.86705	0.84082335	0.86669	0.7746958	0.86706	-14.756	0.95254	D	.	.	1.000	0.99395	P	.;.;.	.;.;.	5.594136	0.92403	32	0.99921363009044462	0.98787	0.99493	0.96700	D	AEFBI	0.967156	0.98963	D	1.07578549194751	0.97660	16.522	0.947442180229328	0.97327	15.94415	0.999999999263411	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.63	4.63	0.57175	9.893000	0.98592	11.750000	0.95386	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.834000	0.39329	0.0:0.0:1.0:0.0	18.038	0.89233	731	0.54177	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	175.83	40	chr1	116393708	.	G	A	175.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0;DP=213;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.33;ReadPosRankSum=-0.49;SOR=0.368	GT:AD:DP:GQ:PL	0/1:16,8:24:99:186,0,445	6	0	1	0
chr1	145872713	145872713	C	G	exonic	ANKRD35	.	nonsynonymous SNV	ANKRD35:NM_001280799:exon8:c.G1786C:p.A596P,ANKRD35:NM_144698:exon10:c.G2056C:p.A686P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	6.635e-05	0	1.376e-06	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	0.39575	D	0.122	0.35710	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	0.59037	T	-1.95	0.45222	N	0.526	0.55540	.	.	.	.	.	.	.	0.42498738	0.57114	T	.	.	.	.	.	.	.	.	.	0.8187195895967326	0.81828	.	.	.	.	.	0.082225	0.36779	T	.	.	.	.	.	.	.	.	.	0.812719	0.46458	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.743	0.77826	P	.;.	.;.	3.961182	0.58095	23.9	.	.	.	.	.	.	0.492730	0.52925	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.132000	0.41706	4.040000	0.41416	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	.	.	.	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	176.91	63	chr1	145872713	.	C	G	176.91	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-3.334;DP=628;ExcessHet=1.383;FS=138.631;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=0.79;ReadPosRankSum=0.289;SOR=9.21	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:49,11:60:15:0|1:145872713_C_G:15,0,1703:145872713	3	0	3	1
chr1	145872714	145872714	C	G	exonic	ANKRD35	.	nonsynonymous SNV	ANKRD35:NM_001280799:exon8:c.G1785C:p.E595D,ANKRD35:NM_144698:exon10:c.G2055C:p.E685D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.069	0.43913	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	0.57419	T	-1.48	0.36189	N	0.138	0.13626	.	.	.	.	.	.	.	0.13870499	0.26377	T	.	.	.	.	.	.	.	.	.	0.4799690801717402	0.47916	.	.	.	.	.	0.054385	0.29709	T	.	.	.	.	.	.	.	.	.	0.768923	0.39853	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.180	0.42763	B	.;.	.;.	3.406129	0.47225	22.4	.	.	.	.	.	.	0.196541	0.32351	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.344000	0.19703	1.359000	0.25866	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.977000	0.56843	.	.	.	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2857	245.64	63	chr1	145872714	.	C	G	245.64	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-4.041;DP=635;ExcessHet=2.5225;FS=134.218;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=0.65;ReadPosRankSum=-0.141;SOR=9.17	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:49,11:60:15:0|1:145872713_C_G:15,0,1703:145872713	3	0	4	0
chr1	148105418	148105418	G	A	exonic	NBPF11	.	nonsynonymous SNV	NBPF11:NM_001385468:exon21:c.C2414T:p.T805M,NBPF11:NM_001385470:exon21:c.C2414T:p.T805M,NBPF11:NM_001385477:exon21:c.C2189T:p.T730M,NBPF11:NM_001385480:exon21:c.C2189T:p.T730M,NBPF11:NM_001101663:exon22:c.C2414T:p.T805M,NBPF11:NM_001385469:exon22:c.C2414T:p.T805M,NBPF11:NM_001385475:exon22:c.C2414T:p.T805M,NBPF11:NM_001385479:exon22:c.C2189T:p.T730M,NBPF11:NM_183372:exon22:c.C2414T:p.T805M,NBPF11:NM_001385471:exon23:c.C2414T:p.T805M,NBPF11:NM_001385474:exon23:c.C2414T:p.T805M,NBPF11:NM_001385478:exon23:c.C2189T:p.T730M,NBPF11:NM_001385472:exon24:c.C2414T:p.T805M,NBPF11:NM_001385473:exon24:c.C2414T:p.T805M,NBPF11:NM_001385476:exon24:c.C2414T:p.T805M	.	437	1075	10	0	0	10	0.00462963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.0016884778934	.	.	0	0	.	0	.	0	.	.	.	.	.	rs782314753	0.0028	0.0024	0.0028	0.0028	0.0033	0.0027	0.0027	0.0029	0.0027	0.0005	0.0033	0.0168	0.0012	0.0013	0.0024	0.0025	0.0047	0.0019	0.0049	0.0048	0.0050	0.0047	0.0081	0.0046	0.0044	0.0070	0.0065	0.0013	0.0338	0.0081	0.0258	0.0024	0.0012	0.0035	0.0055	0.0076	0.0015	.	.	.	0.052	0.49120	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0	0.06538	N	.	.	.	.	.	.	0.092	0.07125	-0.9294	0.44227	T	0.002	0.00707	T	8	0.004490465	0.00092	T	0.001688	0.02805	T	.	.	.	.	.	.	0.01701020210562973	0.01656	.	.	.	.	.	0.002227	0.01623	T	-0.61302	0.00121	T	-0.645375	0.09281	T	0.00205499412097249	0.00021	T	0.30177	0.05696	T	0.026424073	0.01698	0.084121	0.19328	0.026424073	0.01698	0.084121	0.19328	-4.559	0.31652	T	.	.	0.121	0.31683	B	.;.;.;.	.;.;.;.	1.414491	0.18301	13.66	0.15723905153775802	0.00395	0.00016	0.00195	N	AEFI	0.015982	0.00332	N	-2.0209091678213	0.00191	0.008172268	-2.13315060730951	0.00158	0.006936364	1.85407519951099E-4	0.05844	0.638212	0.43195	0	0.670034	0.63936	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	0.118	-0.237	0.12417	-2.765000	0.00853	-20.000000	0.00162	-2.236000	0.00342	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	.	.	.	.	.	Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	256.44	18	chr1	148105418	.	G	A	256.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.325;DP=194;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=48.73;MQRankSum=-4.064;QD=8.01;ReadPosRankSum=0.361;SOR=0.512	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:18,14:32:99:1|0:148105413_C_A:267,0,421:148105413	6	0	1	0
chr1	148533164	148533164	G	C	exonic	NBPF14	.	stopgain	NBPF14:NM_015383:exon66:c.C8301G:p.Y2767X	.	792	726	4	0	0	4	0.00274725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.307e-05	0	0	0	0	4.497e-05	0	6.056e-05	.	.	.	rs1461452258	0.0016	0.0012	0.0015	0.0016	0.0194	0.0015	0.0015	0.0149	0.0133	0.0014	0.0036	0.0072	0	3.319e-05	0.0194	0.0013	0.0031	0.0013	0.0017	0.0016	0.0015	0.0019	0.0027	0.0015	0.0014	0.0017	0.0014	0.0008	0	0.0027	0.0052	0	0	0.0282	0.0017	0.0118	0.0011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999925	0.54805	D	.	.	.	.	.	.	.	.	.	0.193	0.34228	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.203067	0.74179	D	0.117561	0.78073	D	0.748487114906311	0.43201	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.;.	.;.;.;.;.;.	5.803417	0.93624	33	0.90715762551554557	0.19965	0.00100	0.00648	N	AEFI	0.021612	0.00982	N	-0.37309071805878	0.26432	1.442484	-0.82933629948695	0.13786	0.7170012	4.46773967751996E-5	0.03989	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	0.445	-0.891	0.10038	0.914000	0.28246	-12.751000	0.00503	0.222000	0.18087	0.004000	0.16614	0.000000	0.08366	0.013000	0.09966	.	.	.	929	0.16858	Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	35.1	5	chr1	148533164	.	G	C	35.1	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.674;DP=38;ExcessHet=0;FS=3.332;MLEAC=1;MLEAF=0.071;MQ=28.09;MQRankSum=0.319;QD=4.39;ReadPosRankSum=0;SOR=0.105	GT:AD:DP:GQ:PL	0/1:6,2:8:45:45,0,160	6	0	1	0
chr1	149476000	149476000	C	A	exonic	NBPF19	.	nonsynonymous SNV	NBPF19:NM_001351365:exon1:c.C68A:p.T23K	.	439	1070	13	0	0	13	0.00603809	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.914e-06	0.0001	6.637e-06	3.234e-06	3.197e-05	1.77e-06	1.16e-06	1.05e-06	7.1e-07	3.197e-05	2.263e-05	0	0	0	0	4.47e-06	0	0	0.0002	0.0020	0.0001	0.0002	0.0005	0.0001	0.0001	0.0001	9.567e-05	4.942e-05	0	6.976e-05	0.0012	0.0004	0.0001	0	0.0002	0	0.0005	.	.	.	0.238	0.24549	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.136	0.15046	-0.9732	0.36518	T	0.000	0.00152	T	7	0.041458398	0.02803	T	2.1E-4	0.00005	T	.	.	.	.	0.0138822411134	0.00435	.	.	.	.	.	.	.	0.001534	0.00977	T	-0.258436	0.13083	T	-0.609002	0.12066	T	0.0377450288243948	0.03287	T	0.49745	0.15470	T	0.038046084	0.04993	0.06475348	0.13026	0.038046084	0.04992	0.06475348	0.13026	-1.143	0.01172	T	.	.	0.050	0.00130	B	.;.;.	.;.;.	-0.436196	0.02080	0.193	0.30157414338663457	0.01635	0.00027	0.00265	N	AEFDBHCIJ	.	.	.	-1.71877720489443	0.00777	0.03357492	-1.76073307947	0.00893	0.03994536	0.999999413893899	0.74766	0.675202	0.55065	0	0.008208	0.00037	3	0.691665	0.62940	0	0.756233	0.99697	0	.	.	1.21	-0.139	0.12803	-0.024000	0.12382	-0.148000	0.11448	-0.613000	0.04580	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.416:0.2945:0.0:0.2895	2.171	0.03615	.	.	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2143	308.37	34	chr1	149476000	.	C	A	308.37	.	AC=3;AF=0.214;AN=14;BaseQRankSum=4.59;DP=571;ExcessHet=1.1394;FS=27.558;MLEAC=3;MLEAF=0.214;MQ=33.26;MQRankSum=-4.196;QD=0.67;ReadPosRankSum=-3.548;SOR=3.886	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:134,13:147:99:0|1:149475995_C_T:102,0,5498:149475995	4	0	3	0
chr1	149476006	149476006	G	A	exonic	NBPF19	.	nonsynonymous SNV	NBPF19:NM_001351365:exon1:c.G74A:p.R25H	.	440	1066	16	0	0	16	0.00744879	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1450463980	0.0016	0.0064	0.0017	0.0015	0.0019	0.0016	0.0016	0.0018	0.0018	0.0005	0.0005	0.0016	0.0009	0.0014	0.0015	0.0019	0.0015	0.0006	0.0005	0.0024	0.0004	0.0005	0.0004	0.0004	0.0003	0.0003	0.0003	0.0004	0	0.0003	0.0009	0.0002	0.0014	0	0.0004	0	0.0002	.	.	.	0.012	0.63918	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.126	0.11912	-0.9534	0.40380	T	0.005	0.01578	T	9	0.034075946	0.01603	T	5.6E-4	0.00221	T	.	.	.	.	0.0138822411134	0.00435	.	.	.	.	.	.	.	0.015807	0.13185	T	-0.346532	0.04948	T	-0.735546	0.04081	T	0.0515061975916717	0.05762	T	0.772023	0.40277	T	0.024656914	0.01319	0.043804567	0.05533	0.024656914	0.01319	0.043804567	0.05532	-6.957	0.53720	T	.	.	0.096	0.15160	B	.;.;.	.;.;.	0.628899	0.09975	6.729	0.91245755014531849	0.20504	0.00546	0.02508	N	AEFDBHCIJ	.	.	.	-1.10416153052003	0.06569	0.3027576	-1.28977332957077	0.04568	0.2157507	0.999999577828503	0.74766	0.675202	0.55065	0	0.67197	0.64623	0	0.691665	0.62940	0	0.756233	0.99697	0	.	.	1.06	-1.67	0.07798	-1.475000	0.02441	-15.955000	0.00333	-0.714000	0.03913	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.413:0.0:0.587:0.0	4.485	0.11196	.	.	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2143	462.89	34	chr1	149476006	.	G	A	462.89	.	AC=3;AF=0.214;AN=14;BaseQRankSum=4.28;DP=629;ExcessHet=1.1394;FS=21.18;MLEAC=3;MLEAF=0.214;MQ=34.08;MQRankSum=-3.792;QD=0.95;ReadPosRankSum=-3.431;SOR=3.262	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:141,14:155:99:0|1:149475995_C_T:117,0,5680:149475995	4	0	3	0
chr1	150557228	150557228	G	A	exonic	ADAMTSL4	.	nonsynonymous SNV	ADAMTSL4:NM_001378596:exon12:c.G1940A:p.R647Q,ADAMTSL4:NM_019032:exon12:c.G1940A:p.R647Q,ADAMTSL4:NM_025008:exon12:c.G1940A:p.R647Q,ADAMTSL4:NM_001288608:exon13:c.G2009A:p.R670Q	Ectopia lentis et pupillae, Autosomal recessive;Ectopia lentis, isolated, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.130	0.0476038583393	.	.	1.866e-05	0	0	0	0	1.7e-05	0	6.406e-05	1.29e-05	2	154602	rs766707868	6.853e-06	6.841e-06	2.727e-06	1.102e-05	5.807e-05	3.47e-06	2.53e-06	2.197e-05	1.432e-05	0	0	0	0	0	0	4.498e-06	0	5.807e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.41096	T	0.362	0.30045	T	1.0	0.90584	D	0.974	0.86255	D	.	.	.	.	0.999514	0.50225	D	2.54	0.74080	M	0.01	0.62459	T	-1.68	0.40082	N	0.466	0.50237	-0.3856	0.72478	T	0.365	0.72590	T	9	0.32089195	0.49459	T	0.047604	0.62997	D	0.130	0.35528	0.296	0.26041	0.882619457088	0.88146	0.4163530703746958	0.41551	0.61309136302	0.55890	0.62737262249	0.56772	T	0.008	0.07627	T	-0.00464383	0.51011	T	-0.143817	0.59785	T	0.839370131492615	0.49276	D	0.922308	0.71908	D	0.19749382	0.41615	0.17985229	0.40747	0.19749382	0.41615	0.17985229	0.40746	-2.954	0.09746	T	0.6796381021623671	0.75586	0.215	0.44410	B	.;.;.;.	.;.;.;.	6.121279	0.94609	34	0.99949335393749672	0.99931	0.92970	0.56998	D	AEFBCI	0.645996	0.62169	D	0.692494896879913	0.79140	7.015354	0.698001680628614	0.82227	7.715109	0.999999999999914	0.74766	0.646311	0.45356	0	0.550933	0.16991	0	0.645312	0.48771	0	0.727631	0.95156	0	.	.	5.76	5.76	0.90726	3.333000	0.51806	11.815000	0.97057	0.676000	0.76740	0.935000	0.32453	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	17.468	0.87531	114	0.95383	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	344.63	33	chr1	150557228	.	G	A	344.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.378;DP=216;ExcessHet=0;FS=1.574;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.76;ReadPosRankSum=-0.807;SOR=0.33	GT:AD:DP:GQ:PL	0/1:12,15:27:99:355,0,249	6	0	1	0
chr1	151006130	151006130	T	-	exonic	MINDY1	.	frameshift deletion	MINDY1:NM_001163258:exon2:c.26delA:p.N9Mfs*39	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.146e-07	6.84e-07	1.41e-06	0	3.165e-05	0	0	.	.	3.165e-05	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	236.45	24	chr1	151006129	.	AT	A	236.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.658;DP=186;ExcessHet=0;FS=2.158;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.78;ReadPosRankSum=0.719;SOR=0.169	GT:AD:DP:GQ:PL	0/1:8,8:16:99:247,0,246	6	0	1	0
chr1	151138034	151138034	G	A	exonic	SEMA6C	.	nonsynonymous SNV	SEMA6C:NM_001178061:exon9:c.C619T:p.P207S,SEMA6C:NM_030913:exon9:c.C619T:p.P207S	.	375	1140	7	0	0	7	0.00306078	.	.	.	2809246	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.041	0.0054655425135	0.0052	0.00279553	0.0045	0.0010	0.0008	0	0.0040	0.0070	0.0033	0.0021	0.0043919	679	154602	rs139583127	0.0061	0.0061	0.0062	0.0060	0.0072	0.0060	0.0059	0.0071	0.0071	0.0006	0.0008	0.0026	0	0.0032	0.0023	0.0072	0.0053	0.0022	0.0045	0.0045	0.0048	0.0042	0.0074	0.0042	0.0041	0.0069	0.0067	0.0013	0.0351	0.0015	0.0026	0.0004	0.0038	0.0034	0.0074	0.0038	0.0025	0.052	0.39097	T	0.016	0.61642	D	0.001	0.11197	B	0.003	0.15521	B	0.002416	0.36612	N	0.259535	0.902996	0.36217	D	-0.43	0.02865	N	3.07	0.08547	T	-0.73	0.20576	N	0.175	0.18784	-0.9187	0.45729	T	0.004	0.01226	T	10	0.0053745806	0.00118	T	0.005466	0.14045	T	0.041	0.10877	.	.	0.366848117066	0.36290	0.29716454675821175	0.29629	1.08119682957	0.77139	0.388885736465	0.23513	T	0.023824	0.18118	T	-0.659255	0.00063	T	-0.711931	0.05197	T	0.0184003743977874	0.00557	T	0.838016	0.51077	T	0.054427583	0.10441	0.0538941	0.09165	0.054427583	0.10440	0.0538941	0.09164	-6.709	0.52708	T	.	.	0.083	0.09239	B	.;.;.;.;.	.;.;.;.;.	2.086328	0.26537	17.15	0.96280672423546265	0.29279	0.66429	0.33075	D	AEFDBHCI	0.179194	0.30647	N	-0.666186170515467	0.16990	0.8704987	-0.524035943949895	0.21501	1.163441	0.3305929840632	0.19481	0.706298	0.61202	0	0.547309	0.14657	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.85	1.86	0.24489	3.132000	0.50218	2.114000	0.30678	-0.135000	0.12811	0.996000	0.39380	0.999000	0.35428	0.993000	0.69303	0.3058:0.1713:0.5229:0.0	4.105	0.09505	164	0.93620	.;Sema domain|Sema domain|Sema domain;Sema domain|Sema domain|Sema domain;Sema domain|Sema domain|Sema domain;Sema domain|Sema domain|Sema domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.008621	0.000000	0.000000	0.07143	648.44	34	chr1	151138034	.	G	A	648.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.04;DP=230;ExcessHet=0;FS=4.211;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.41;ReadPosRankSum=0.954;SOR=1.168	GT:AD:DP:GQ:PL	0/1:19,26:45:99:659,0,354	6	0	1	0
chr1	151316496	151316496	T	C	exonic	PI4KB	.	nonsynonymous SNV	PI4KB:NM_001369625:exon3:c.A22G:p.S8G,PI4KB:NM_001369628:exon3:c.A22G:p.S8G,PI4KB:NM_002651:exon3:c.A22G:p.S8G	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.00867379601379	.	.	3.826e-05	0.0001	0	0	0	0	0	0.0003	5.82e-05	9	154602	rs758672973	5.522e-05	6.43e-05	3.46e-05	7.676e-05	0.0010	4.512e-05	4.115e-05	0.0008	0.0008	0	0	0	0	0	0	9.42e-07	3.579e-05	0.0010	2.627e-05	2.625e-05	0	5.371e-05	0.0008	8.14e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0	0	0	0	0	0.0008	0.185	0.21550	T	0.238	0.24549	T	.	.	.	.	.	.	0.932798	0.08409	N	0.967795	1	0.81001	D	.	.	.	-0.28	0.67543	T	-0.86	0.23372	N	0.106	0.09066	-1.0120	0.26291	T	0.073	0.29483	T	7	0.08272007	0.13683	T	0.008674	0.22903	T	0.038	0.09825	0.255	0.19533	0.606024743591	0.60286	0.18531146761136696	0.18449	0.380714261292	0.39437	.	.	.	.	.	.	-0.416429	0.01803	T	-0.481914	0.24244	T	0.0289847086867817	0.01834	T	0.626337	0.24237	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	0.15921	B	.	.	1.629416	0.20803	14.92	0.98294787732694133	0.39983	0.78630	0.38822	D	AEFDBI	0.077373	0.15588	N	0.0167163536604621	0.42615	2.57107	0.0557859306936801	0.42351	2.560169	0.81580708143979	0.24436	0.732398	0.92422	0	0.697927	0.68747	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.31	2.77	0.31614	0.197000	0.16999	1.471000	0.26753	0.665000	0.62972	0.795000	0.29657	0.939000	0.28734	0.980000	0.58198	0.153:0.084:0.1403:0.6227	2.796	0.05069	102	0.95784	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	310.83	41	chr1	151316496	.	T	C	310.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.99;DP=218;ExcessHet=0;FS=4.419;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.13;ReadPosRankSum=-0.558;SOR=2.215	GT:AD:DP:GQ:PL	0/1:11,11:22:99:321,0,253	6	0	1	0
chr1	152309431	152309431	A	G	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.T5455C:p.S1819P	Ichthyosis vulgaris, Autosomal dominant	0	1507	15	0	0	15	0.00495213	.	.	.	1164060	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.022	0.0042655887967	.	.	1.648e-05	0	0	0	0	1.498e-05	0	6.064e-05	3.84e-05	1	26028	rs754699295	5.971e-05	0.0028	5.519e-05	6.428e-05	0.0008	4.949e-05	4.563e-05	0.0006	0.0005	2.999e-05	2.261e-05	0.0001	0.0008	3.784e-05	0	3.365e-05	3.364e-05	0.0001	0.0008	0.0057	0.0007	0.0009	0.0035	0.0007	0.0006	0.0021	0.0017	0.0002	0.0012	0.0018	0.0003	0.0029	0.0002	0	0.0008	0.0005	0.0035	0.035	0.43708	D	.	.	.	0.963	0.55692	D	0.702	0.54226	P	.	.	.	.	1	0.08975	N	1.83	0.48079	L	3.81	0.03754	T	-2.99	0.62151	D	0.181	0.19593	-0.9475	0.41397	T	0.009	0.03315	T	9	0.09409812	0.16705	T	0.004266	0.10310	T	0.022	0.04323	.	.	0.333906830038	0.33007	0.0059005026785626	0.00559	.	.	0.276070654392	0.06950	T	0.08566	0.37551	T	-0.258639	0.13059	T	-0.609294	0.12041	T	0.335630357265472	0.26450	T	0.347365	0.07649	T	0.37962916	0.59289	0.29499885	0.55531	0.37962916	0.59290	0.29499885	0.55530	-6.129	0.47346	T	.	.	0.227	0.45942	B	.	.	2.071872	0.26345	17.09	0.94045235846636877	0.24169	0.02034	0.06095	N	AEFBI	0.054419	0.09892	N	-0.360126105977561	0.26901	1.471835	-0.544381783131769	0.20954	1.131363	4.64081277013022E-5	0.03989	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.0	2.82	0.32061	0.771000	0.26294	.	.	0.361000	0.20101	0.005000	0.17040	0.000000	0.08366	0.018000	0.11154	0.8853:0.0:0.1147:0.0	6.509	0.21409	565	0.70868	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.003719	0.020408	0.000000	0.004132	0.000000	0.000000	0.000000	0.000000	0.07143	471.44	285	chr1	152309431	.	A	G	471.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=5.76;DP=2196;ExcessHet=0;FS=16.957;MLEAC=1;MLEAF=0.071;MQ=59.13;MQRankSum=-10.66;QD=2.1;ReadPosRankSum=-1.232;SOR=2.178	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:199,26:225:99:0|1:152309431_A_G:482,0,8057:152309431	6	0	1	0
chr1	152309635	152309635	T	C	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.A5251G:p.T1751A	Ichthyosis vulgaris, Autosomal dominant	0	1484	38	0	0	38	0.0126414	.	.	.	2758319	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.022	0.00137596557186	.	0.000199681	0.0002	9.61e-05	8.637e-05	0.0003	0	0.0002	0	6.056e-05	0.0001423	22	154602	rs577966299	0.0001	0.0073	0.0001	0.0001	0.0005	0.0001	0.0001	0.0003	0.0003	0.0002	2.264e-05	0.0001	0.0005	1.894e-05	0.0002	0.0001	3.364e-05	0.0002	0.0006	0.0096	0.0007	0.0006	0.0022	0.0005	0.0005	0.0012	0.0009	0.0001	0.0012	0.0010	0	0.0010	0.0004	0.0035	0.0008	0.0010	0.0022	0.61	0.05468	T	.	.	.	0.003	0.11197	B	0.008	0.13708	B	.	.	.	.	1	0.08975	N	-0.255	0.03828	N	4.4	0.02215	T	-0.24	0.10833	N	0.043	0.01577	-0.9024	0.47739	T	0.001	0.00222	T	9	0.015293419	0.00321	T	0.001376	0.01986	T	0.022	0.04323	0.063	0.00257	0.0666544352282	0.05500	0.010453316840408004	0.01006	.	.	0.21237513423	0.00916	T	0.01836	0.14816	T	-0.437997	0.01329	T	-0.866929	0.00772	T	0.0157041039026333	0.00362	T	0.221078	0.02846	T	0.019434154	0.00474	0.02615014	0.00689	0.019434154	0.00473	0.02615014	0.00689	-1.595	0.01970	T	.	.	0.069	0.03093	B	.	.	-1.585595	0.00247	0.004	0.3324786050692059	0.01970	0.00143	0.00871	N	AEFBI	0.017329	0.00447	N	-2.16345743713501	0.00092	0.003956945	-2.24016011655303	0.00091	0.003993062	0.149966739545292	0.17423	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.93	-7.86	0.01052	-4.573000	0.00246	.	.	-0.693000	0.04107	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3589:0.1539:0.1205:0.3667	0.643	0.00761	565	0.70868	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.07143	892.44	265	chr1	152309635	.	T	C	892.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.9;DP=2238;ExcessHet=0;FS=3.148;MLEAC=1;MLEAF=0.071;MQ=59.02;MQRankSum=-10.78;QD=3.33;ReadPosRankSum=-3.883;SOR=0.467	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:230,38:268:99:0|1:152309616_T_C:903,0,9349:152309616	6	0	1	0
chr1	152310577	152310577	G	A	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.C4309T:p.R1437C	Ichthyosis vulgaris, Autosomal dominant	0	1487	32	2	1	37	0.0119601	.	.	.	904369	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.040	.	0.0043	0.00479233	0.0050	0.0008	0.0055	0.0001	0.0014	0.0062	0.0044	0.0061	0.0049353	763	154602	rs12750571	0.0060	0.0060	0.0058	0.0061	0.0248	0.0058	0.0058	0.0215	0.0202	0.0012	0.0051	0.0034	0.0001	0.0014	0.0248	0.0064	0.0063	0.0068	0.0048	0.0048	0.0049	0.0046	0.0070	0.0045	0.0044	0.0065	0.0063	0.0012	0.0264	0.0061	0.0046	0.0002	0.0014	0.0306	0.0070	0.0048	0.0064	0.014	0.53172	D	.	.	.	0.999	0.77913	D	0.635	0.51908	P	.	.	.	.	1	0.08975	N	2.86	0.83026	M	4.65	0.01779	T	-1.23	0.31170	N	0.266	0.30118	-0.9528	0.40485	T	0.005	0.01578	T	9	0.008905023	0.00202	T	.	.	.	0.040	0.10527	.	.	0.278968121808	0.27521	0.015595421109007294	0.01515	.	.	0.213625520468	0.00975	T	0.089724	0.38434	T	-0.578702	0.00196	T	-0.598915	0.12902	T	0.0278192646706579	0.01662	T	0.649435	0.26018	T	0.08136459	0.18690	0.043253686	0.05338	0.08136459	0.18690	0.043253686	0.05338	-10.485	0.76761	D	.	.	0.129	0.27553	B	.	.	1.880204	0.23884	16.19	0.97162728186922065	0.32638	0.01478	0.04921	N	AEFDBI	0.040004	0.05890	N	-0.569226267034253	0.19884	1.044184	-0.851837246202194	0.13244	0.6859478	1.30223998648331E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	2.84	-0.934	0.09897	0.417000	0.20934	.	.	-0.310000	0.06091	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.1466:0.0:0.399:0.4544	3.196	0.06240	586	0.69252	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.07143	2608.44	232	chr1	152310577	.	G	A	2608.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.55;DP=2035;ExcessHet=0;FS=1.077;MLEAC=1;MLEAF=0.071;MQ=59.91;MQRankSum=-0.586;QD=12.66;ReadPosRankSum=-0.001;SOR=0.814	GT:AD:DP:GQ:PL	0/1:103,103:206:99:2619,0,2341	6	0	1	0
chr1	153760378	153760378	C	G	exonic	INTS3	.	nonsynonymous SNV	INTS3:NM_023015:exon12:c.C1305G:p.D435E,INTS3:NM_001324475:exon13:c.C1305G:p.D435E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.557	0.0101042060593	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.109e-06	3.763e-05	5.452e-06	2.753e-06	5.404e-06	1.48e-06	9.7e-07	1.94e-06	1.28e-06	0	0	0	0	0	0	5.404e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.096	0.39340	T	0.99	0.63424	D	0.971	0.76916	D	0.000000	0.84330	D	0.000000	0.999453	0.47118	D	.	.	.	.	.	.	-3.57	0.68999	D	0.889	0.88798	-0.8647	0.50922	T	0.172	0.51484	T	9	0.8319566	0.82357	D	0.010104	0.26235	T	0.557	0.81774	.	.	0.721551216883	0.71909	0.6563577712550202	0.65571	2.15008403777	0.95306	0.843462109566	0.88622	D	.	.	.	0.223	0.76021	D	0.0819729	0.75709	D	0.98498809337616	0.76116	D	.	.	.	.	.	.	.	.	.	.	.	-3.456	0.16153	T	.	.	0.998	0.97160	P	.;.;.	.;.;.	3.646224	0.51727	23.1	0.99633933635678729	0.76203	0.93226	0.57654	D	AEFBI	0.403545	0.47719	N	0.0683850253580956	0.44993	2.763348	0.0345004263229141	0.41329	2.481153	0.733851878871199	0.23096	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.13	2.28	0.27583	0.899000	0.28049	2.750000	0.34528	-0.171000	0.11205	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.7504:0.0:0.2496	8.751	0.33774	123	0.95099	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	414.4	91	chr1	153760378	.	C	G	414.4	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-2.605;DP=558;ExcessHet=1.383;FS=257.17;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=1.34;ReadPosRankSum=0.128;SOR=8.608	GT:AD:DP:GQ:PL	0/1:38,17:55:36:36,0,508	3	0	3	1
chr1	155041461	155041461	C	T	exonic	DCST1	.	nonsynonymous SNV	DCST1:NM_001143687:exon6:c.C521T:p.A174V,DCST1:NM_152494:exon7:c.C596T:p.A199V	.	.	.	.	.	.	.	.	.	.	.	706710	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.020	.	0.0107	0.00838658	0.0027	0.0296	0.0010	0	0	0.0002	0.0033	0	0.0024773	383	154602	rs115086285	0.0009	0.0009	0.0010	0.0008	0.0307	0.0008	0.0008	0.0291	0.0285	0.0307	0.0011	0	0	0	0.0016	0.0001	0.0014	4.637e-05	0.0088	0.0087	0.0091	0.0084	0.0307	0.0084	0.0082	0.0293	0.0287	0.0307	0	0.0021	0	0	0	0	0.0002	0.0047	0	0.131	0.26629	T	0.283	0.21478	T	0.002	0.09854	B	0.003	0.08700	B	0.019015	0.01501	N	2.398010	0.999495	0.21100	N	2.215	0.62545	M	0.24	0.59583	T	-1.35	0.33598	N	0.324	0.41952	-1.0871	0.06030	T	0.032	0.13811	T	10	0.003309667	0.00057	T	.	.	.	0.020	0.03691	.	.	0.350524144436	0.34660	0.24516359203993446	0.24430	0.116420580842	0.13130	0.274921417236	0.06794	T	0.022563	0.17371	T	-0.58768	0.00173	T	-0.595308	0.13209	T	0.0125295325662199	0.00208	T	0.776822	0.40920	T	0.038873777	0.05263	0.054420587	0.09358	0.038873777	0.05263	0.054420587	0.09357	-4.725	0.34475	T	.	.	0.085	0.13032	B	.;.;.	.;.;.	1.277292	0.16768	12.75	0.97618111548930875	0.34949	0.10537	0.16016	N	AEFDBI	0.096378	0.19458	N	-1.28650158768749	0.03837	0.1721278	-1.26790921542626	0.04871	0.2308212	0.992246431279772	0.32771	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.27	-1.64	0.07874	0.298000	0.18874	-0.229000	0.10694	-0.990000	0.01853	0.431000	0.26416	0.000000	0.08366	0.705000	0.34296	0.384:0.4077:0.1257:0.0826	3.913	0.08710	234	0.90879	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001511	0.005051	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	603.45	33	chr1	155041461	.	C	T	603.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.057;DP=224;ExcessHet=0;FS=1.187;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.71;ReadPosRankSum=-1.542;SOR=1.011	GT:AD:DP:GQ:PL	0/1:19,25:44:99:614,0,421	6	0	1	0
chr1	162590487	162590487	G	A	exonic	UAP1	.	nonsynonymous SNV	UAP1:NM_001324114:exon8:c.G1334A:p.G445D,UAP1:NM_001324116:exon8:c.G1334A:p.G445D,UAP1:NM_001324117:exon8:c.G1334A:p.G445D,UAP1:NM_003115:exon8:c.G1334A:p.G445D,UAP1:NM_001324113:exon9:c.G1334A:p.G445D,UAP1:NM_001324115:exon9:c.G1334A:p.G445D	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.347	0.00920384562214	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1266774736	2.074e-06	2.736e-06	2.749e-06	1.39e-06	0.0002	5.5e-07	1.5e-07	.	.	0	0	0	0	1.88e-05	0.0002	9.048e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.36509	T	0.109	0.41405	T	0.807	0.45251	P	0.309	0.41361	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.575	0.75298	M	2.28	0.17271	T	-4.85	0.81269	D	0.783	0.81559	-1.0912	0.05335	T	0.022	0.09513	T	9	0.69574285	0.72132	D	0.009204	0.24177	T	0.347	0.66863	0.541	0.65304	0.174091166621	0.17034	0.7374328362549915	0.73688	1.27784336031	0.82451	0.758064389229	0.75642	T	0.315107	0.68673	T	0.163405	0.70517	D	-0.00305717	0.70138	D	0.984004080295563	0.75465	D	0.867113	0.57861	D	0.8102477	0.84570	0.7022881	0.82455	0.8102477	0.84571	0.7022881	0.82456	-9.942	0.73564	D	.	.	0.283	0.52833	B	.;.;.;.	.;.;.;.	4.701379	0.75437	26.3	0.99848909297241106	0.92838	0.99555	0.97394	D	AEFGBI	0.896864	0.83839	D	0.424197096565172	0.62755	4.496837	0.509394178442256	0.68620	5.245364	0.999999912134821	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.659464	0.59346	0	0.711	0.71501	0	.	.	4.93	4.93	0.64394	7.530000	0.80856	9.863000	0.82071	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	16.890	0.85953	810	0.42761	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	442.53	34	chr1	162590487	.	G	A	442.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.291;DP=215;ExcessHet=0;FS=3.331;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.35;ReadPosRankSum=-0.893;SOR=1.508	GT:AD:DP:GQ:PL	0/1:22,17:39:99:453,0,558	6	0	1	0
chr1	165743215	165743215	G	C	exonic	TMCO1	.	nonsynonymous SNV	TMCO1:NM_001256164:exon6:c.C471G:p.D157E,TMCO1:NM_001256165:exon6:c.C384G:p.D128E,TMCO1:NM_019026:exon6:c.C420G:p.D140E	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.283	0.00561825470216	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.151	0.32355	T	0.36	0.33860	B	0.366	0.43381	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.23	0.30720	L	.	.	.	.	.	.	0.873	0.94550	-0.9809	0.34794	T	0.105	0.38513	T	8	0.7058418	0.72732	D	0.005618	0.14530	T	0.283	0.60100	0.787	0.90993	0.162503812791	0.15892	0.8982099665768731	0.89791	0.898319418033	0.70545	0.813728034496	0.84064	D	0.273669	0.64613	T	0.317	0.84250	D	0.217429	0.84044	D	0.938554227352142	0.60927	D	0.90061	0.74830	D	0.30915323	0.53713	0.28407496	0.54403	0.30915323	0.53713	0.28407496	0.54403	.	.	.	.	.	0.877	0.81325	P	.;.;.;.;.;.	.;.;.;.;.;.	3.073706	0.41320	21.3	0.99659428855862664	0.77820	0.98300	0.81404	D	AEFGBI	0.671349	0.63812	D	-0.0328772314455231	0.40371	2.396296	0.0994292813719545	0.44519	2.732209	0.972625305894158	0.29387	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.711	0.71501	0	.	.	6.17	4.33	0.51083	5.433000	0.66269	5.507000	0.48788	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.1486:0.0:0.8514:0.0	11.107	0.47427	893	0.26510	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	87.83	40	chr1	165743215	.	G	C	87.83	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-2.222;DP=328;ExcessHet=0.4139;FS=330.863;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=0.95;ReadPosRankSum=0.628;SOR=8.764	GT:AD:DP:GQ:PL	0/1:17,11:28:32:32,0,137	4	0	2	1
chr1	171205623	171205623	G	C	exonic	FMO2	.	nonsynonymous SNV	FMO2:NM_001301347:exon5:c.G512C:p.R171T,FMO2:NM_001365900:exon6:c.G977C:p.R326T,FMO2:NM_001460:exon7:c.G1172C:p.R391T	.	431	1064	26	1	0	28	0.012987	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.473	.	0.0049	0.0115815	0.0040	0.0172	0.0047	0	0	0.0006	0.0036	0.0150	0.0035834	554	154602	rs28369899	0.0016	0.0016	0.0012	0.0019	0.0175	0.0015	0.0015	0.0163	0.0158	0.0175	0.0032	3.911e-05	2.525e-05	0	0.0135	0.0003	0.0032	0.0107	0.0055	0.0055	0.0053	0.0057	0.0154	0.0052	0.0050	0.0144	0.0140	0.0154	0	0.0062	0	0	0	0.0102	0.0005	0.0047	0.0112	0.001	0.78490	D	0.002	0.79402	D	.	.	.	.	.	.	0.000002	0.62929	D	0.094778	0.999957	0.52396	D	.	.	.	0.41	0.57100	T	-4.86	0.81187	D	0.716	0.71854	-0.0738	0.80691	T	0.401	0.75195	T	10	0.012713671	0.00272	T	.	.	.	0.473	0.76619	.	.	0.927178182052	0.92643	0.769924132341514	0.76941	.	.	0.644250631332	0.59169	T	.	.	.	-0.329994	0.06112	T	-0.233164	0.51465	T	0.0435719167914988	0.04342	T	0.950005	0.80823	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.390	0.59016	A	.	.	5.146066	0.86174	28.8	0.98568330491178069	0.43076	0.99608	0.97942	D	AEFBI	0.871379	0.79274	D	0.950511489294664	0.94005	12.43282	0.863264346806545	0.93768	12.26565	0.999999999830897	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.55	5.55	0.83298	9.984000	0.99176	7.393000	0.58525	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.968000	0.53726	0.0:0.0:1.0:0.0	18.647	0.91371	739	0.53257	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.016327	0.010101	0.023098	0.018987	0.000000	0.017241	0.006098	0.018939	0.07143	555.49	33	chr1	171205623	.	G	C	555.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.868;DP=209;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.62;ReadPosRankSum=2.08;SOR=0.512	GT:AD:DP:GQ:PL	0/1:15,23:38:99:566,0,368	6	0	1	0
chr1	175160810	175160810	C	0	exonic	KIAA0040	.	.	.	.	430	141	484	211	256	1162	0.762626	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	4024.52	38	chr1	175160810	.	C	*	4024.52	.	AC=3;AF=0.214;AN=14;BaseQRankSum=1.5;DP=319;ExcessHet=0.0509;FS=3.523;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=15.66;ReadPosRankSum=2.04;SOR=0.468	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,11:15:99:1|0:175160809_TC_T:673,161,135:175160809	4	0	3	0
chr1	175403418	175403418	A	C	exonic	TNR	.	nonsynonymous SNV	TNR:NM_003285:exon4:c.T698G:p.L233R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.00639544191413	.	.	8.241e-06	0	0	0	0	0	0	6.057e-05	6.5e-06	1	154602	rs747554074	6.156e-06	6.156e-06	2.722e-06	9.625e-06	0.0002	2.9e-06	2.1e-06	8.4e-07	5.7e-07	2.987e-05	0	0	0	0	0.0002	3.597e-06	3.311e-05	1.159e-05	6.572e-06	6.567e-06	1.285e-05	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0005	0	0.022	0.48642	D	0.314	0.19480	T	0.863	0.47474	P	0.372	0.43610	B	0.001729	0.38161	N	0.264206	0.954434	0.37877	D	0.325	0.10370	N	2.9	0.10101	T	-1.25	0.31576	N	0.291	0.34874	-0.9198	0.45581	T	0.018	0.07706	T	10	0.13104439	0.24939	T	0.006395	0.16812	T	0.080	0.23350	0.198	0.11110	0.123314135267	0.11883	0.5671765796127051	0.56645	0.414904228319	0.42158	0.546670198441	0.45387	T	0.208309	0.56821	T	-0.22805	0.16908	T	-0.4685	0.25678	T	0.307477533817291	0.25310	T	0.70423	0.31438	T	0.15723999	0.35441	0.14202955	0.33802	0.15723999	0.35441	0.14202955	0.33801	-4.627	0.32509	T	0.2341751342426329	0.31702	0.078	0.08802	B	.;.	.;.	2.262067	0.28903	17.95	0.98179892216454212	0.38933	0.89411	0.49859	D	AEFDBI	0.472404	0.51753	N	-0.0879739280874074	0.37920	2.213145	-0.0291399122031359	0.38404	2.262181	1.55810628535521E-5	0.02871	0.500041	0.20204	0	0.59043	0.45803	0	0.624306	0.44879	0	0.564101	0.26826	0	.	.	6.17	1.11	0.19640	2.473000	0.44803	3.066000	0.36180	0.756000	0.94297	0.998000	0.41325	0.994000	0.32194	0.985000	0.61073	0.6156:0.0:0.2661:0.1183	5.379	0.15483	873	0.30802	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	662.44	33	chr1	175403418	.	A	C	662.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.634;DP=256;ExcessHet=0;FS=3.284;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.6;ReadPosRankSum=0.206;SOR=1.122	GT:AD:DP:GQ:PL	0/1:39,30:69:99:673,0,1141	6	0	1	0
chr1	180154946	180154948	GCT	-	exonic	QSOX1	.	nonframeshift deletion	QSOX1:NM_001004128:exon1:c.39_41del:p.L19del,QSOX1:NM_002826:exon1:c.39_41del:p.L19del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0127	.	0.0347	0.0556	0.0217	0.0286	0	0.0343	0	0.0351	3.84e-05	1	26028	rs775285773	0.0004	0.0061	0.0004	0.0005	0.0031	0.0004	0.0004	0.0026	0.0024	0.0004	0.0031	0.0011	0.0010	0.0004	0.0003	0.0003	0.0006	0.0010	6.583e-06	0.0001	0	1.347e-05	1.473e-05	0	0	.	.	0	0	0	0	0	0	0	1.473e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	47.23	11	chr1	180154945	.	CGCT	C	47.23	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0;DP=104;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=4.29;ReadPosRankSum=-0.66;SOR=0.527	GT:AD:DP:GQ:PL	0/1:9,2:11:57:57,0,351	5	0	1	1
chr1	186061865	186061865	C	T	exonic	HMCN1	.	nonsynonymous SNV	HMCN1:NM_031935:exon47:c.C7327T:p.R2443W	.	.	.	.	.	.	.	.	.	.	.	279062	Age_related_macular_degeneration_1|not_specified|not_provided	MONDO:MONDO:0011285,MedGen:C1864205,OMIM:603075|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.312	0.0390784659256	7.7e-05	0.000399361	5.803e-05	0	0	0	0	4.517e-05	0	0.0002	8.41e-05	13	154602	rs376132541	0.0001	0.0001	0.0001	0.0001	0.0001	9.289e-05	8.752e-05	0.0001	0.0001	0	2.239e-05	0	0	1.875e-05	0	0.0001	4.981e-05	4.644e-05	7.226e-05	7.219e-05	0.0001	4.032e-05	0.0004	3.97e-05	3.127e-05	7.296e-05	3.339e-05	4.814e-05	0	0	0	0	0	0	0.0001	0	0.0004	0.003	0.68238	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.975	0.53506	M	1.25	0.36512	T	-5.16	0.83422	D	0.835	0.83066	-0.8372	0.52832	T	0.199	0.55485	T	10	0.74958885	0.75538	D	0.039078	0.58599	D	0.312	0.63375	.	.	0.711129350553	0.70860	0.7469365163298441	0.74639	0.46716595594	0.46101	0.544728696346	0.45114	T	.	.	.	-0.0441591	0.45330	T	-0.0645394	0.66013	T	0.838781476020813	0.49228	D	0.938506	0.76886	D	0.6898728	0.77504	0.66459495	0.80337	0.6898728	0.77506	0.66459495	0.80338	-8.544	0.64720	D	.	.	0.129	0.27613	B	.	.	3.955448	0.57980	23.9	0.99915206761381592	0.98379	0.97008	0.72158	D	AEFI	0.705014	0.66054	D	0.535462196352206	0.69203	5.323665	0.463527250697063	0.65590	4.843044	0.994352093039195	0.33600	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	5.39	4.42	0.52775	4.512000	0.60187	1.358000	0.25859	0.549000	0.26987	1.000000	0.71638	0.890000	0.27818	0.883000	0.42306	0.1471:0.8529:0.0:0.0	14.533	0.67527	402	0.82617	Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.000505	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	240.44	24	chr1	186061865	.	C	T	240.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.251;DP=186;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.93;ReadPosRankSum=-1.25;SOR=0.693	GT:AD:DP:GQ:PL	0/1:11,11:22:99:251,0,244	6	0	1	0
chr1	186086300	186086300	A	C	exonic	HMCN1	.	nonsynonymous SNV	HMCN1:NM_031935:exon58:c.A8939C:p.N2980T	.	424	1093	5	0	0	5	0.00228206	.	.	.	277974	not_provided|Age_related_macular_degeneration_1	MedGen:C3661900|MONDO:MONDO:0011285,MedGen:C1864205,OMIM:603075	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.063	0.0215151167359	0.0002	0.000399361	0.0005	0	8.738e-05	0	0	0.0006	0.0011	0.0012	0.0004786	74	154602	rs150226500	0.0006	0.0006	0.0005	0.0007	0.0052	0.0006	0.0005	0.0037	0.0033	0.0004	0.0003	0.0017	0	1.873e-05	0.0052	0.0006	0.0008	0.0012	0.0005	0.0005	0.0005	0.0005	0.0008	0.0004	0.0004	0.0005	0.0005	0.0001	0	0.0006	0.0014	0	0	0.0068	0.0007	0.0014	0.0008	0.339	0.12754	T	0.004	0.74150	D	0.216	0.30161	B	0.111	0.31539	B	0.000007	0.62929	D	0.170420	0.992104	0.41556	D	1.07	0.27075	L	1.57	0.29342	T	-1.84	0.43149	N	0.527	0.55626	-1.0624	0.11166	T	0.035	0.14987	T	10	0.030536562	0.01181	T	0.021515	0.44299	T	0.063	0.18251	.	.	0.423954403188	0.42011	0.3888674076052411	0.38801	0.110052123789	0.12417	0.424490302801	0.28455	T	.	.	.	-0.549597	0.00293	T	-0.607786	0.12165	T	0.0225958708324112	0.00976	T	0.742826	0.36203	T	0.11005176	0.26015	0.11134614	0.26859	0.11005176	0.26015	0.11134614	0.26858	-6.299	0.48714	T	.	.	0.211	0.43882	B	.	.	2.055297	0.26134	17.01	0.96909664493093983	0.31573	0.96378	0.68846	D	AEBI	0.657838	0.62932	D	-0.502294225831082	0.22006	1.171992	-0.306816040386672	0.27878	1.550106	0.0415693851513424	0.14489	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.59	3.28	0.36691	4.956000	0.63350	4.713000	0.44466	-0.051000	0.17024	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.8632:0.0:0.1368:0.0	10.096	0.41646	439	0.80177	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.007553	0.010101	0.009511	0.005848	0.000000	0.017241	0.000000	0.007576	0.07143	187.49	27	chr1	186086300	.	A	C	187.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.46;DP=194;ExcessHet=0;FS=1.697;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.5;ReadPosRankSum=1.22;SOR=1.402	GT:AD:DP:GQ:PL	0/1:16,9:25:99:198,0,352	6	0	1	0
chr1	186187987	186187987	T	C	exonic	HMCN1	.	nonsynonymous SNV	HMCN1:NM_031935:exon106:c.T16519C:p.Y5507H	.	.	.	.	.	.	.	.	.	.	.	2016482	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.931	0.113573423808	.	.	8.241e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs775142563	5.474e-06	5.472e-06	4.085e-06	6.877e-06	4.474e-05	2.36e-06	1.7e-06	7.42e-06	2.77e-06	0	4.474e-05	0	0	0	0	5.397e-06	0	0	1.972e-05	1.97e-05	1.285e-05	2.691e-05	0.0001	5.24e-06	2.45e-06	2.263e-05	9.08e-06	2.412e-05	0	0.0001	0	0	0	0	0	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.645	0.77386	M	-2.63	0.90083	D	-4.09	0.82063	D	0.725	0.72656	0.950	0.96393	D	0.861	0.95356	D	10	0.94705117	0.94032	D	0.113573	0.79213	D	0.931	0.98378	0.811	0.92719	0.879703561635	0.87853	0.734861701494485	0.73431	0.507776280329	0.48956	0.729985952377	0.71504	T	0.178025	0.52853	T	0.393063	0.89508	D	0.409697	0.92423	D	0.991478383541107	0.81774	D	0.869813	0.61653	D	0.80005485	0.83908	0.7584826	0.85729	0.80005485	0.83910	0.7584826	0.85730	-8.625	0.65254	D	.	.	0.598	0.78641	P	.;.	.;.	3.830207	0.55357	23.6	0.99749113406752321	0.84152	0.92559	0.55996	D	AEFDGBCIJ	0.926105	0.90668	D	0.833701771542533	0.88160	9.475725	0.779629713546459	0.88341	9.546684	0.999999999999999	0.74766	0.661447	0.50134	0	0.48864	0.07623	0	0.644132	0.48003	0	0.654926	0.60358	0	.	.	5.71	5.71	0.89031	7.969000	0.87564	7.896000	0.73301	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.730000	0.35099	0.0:0.0:0.0:1.0	16.004	0.80145	666	0.61362	EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	847.44	34	chr1	186187987	.	T	C	847.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.23;DP=268;ExcessHet=0;FS=4.281;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.09;ReadPosRankSum=1.3;SOR=1.251	GT:AD:DP:GQ:PL	0/1:49,35:84:99:858,0,1062	6	0	1	0
chr1	197104066	197104066	G	A	exonic	ASPM	.	nonsynonymous SNV	ASPM:NM_018136:exon18:c.C5185T:p.R1729W	Microcephaly 5, primary, autosomal recessive, Autosomal recessive	4	1426	86	6	0	98	0.0332203	.	.	.	101785	ASPM-related_disorder|not_provided|not_specified|Microcephaly_5,_primary,_autosomal_recessive	.|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0012106,MedGen:C1837501,OMIM:608716,Orphanet:2512	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.279	.	0.0094	0.00539137	0.0096	0.0018	0.0087	0.0006	0.0018	0.0124	0.0177	0.0113	0.0092366	1428	154602	rs41299623	0.0098	0.0098	0.0095	0.0101	0.0224	0.0097	0.0096	0.0192	0.0181	0.0013	0.0109	0.0190	0.0005	0.0027	0.0224	0.0102	0.0102	0.0125	0.0083	0.0083	0.0084	0.0082	0.0148	0.0079	0.0077	0.0132	0.0126	0.0016	0.0022	0.0148	0.0165	0.0002	0.0024	0.0204	0.0117	0.0171	0.0091	0.001	0.78490	D	0.001	0.83351	D	0.999	0.77913	D	0.978	0.74104	D	0.039326	0.24182	N	0.428411	1	0.81001	D	3.72	0.94773	H	1.53	0.30401	T	-3.96	0.73579	D	0.393	0.43417	-0.5736	0.65871	T	0.193	0.54652	T	10	0.004125327	0.00081	T	.	.	.	0.279	0.59619	.	.	0.3349148499	0.33108	0.08892445824681566	0.08825	.	.	0.236045047641	0.02445	T	0.339384	0.70854	T	-0.425924	0.01569	T	-0.37291	0.36548	T	0.0830932680580513	0.10378	T	0.905509	0.66687	D	0.4028834	0.60932	0.50360066	0.71306	0.4028834	0.60932	0.50360066	0.71306	-8.839	0.66655	D	0.566896680356971	0.63430	0.140	0.30608	B	.	.	4.136525	0.61946	24.4	0.99919287988164351	0.98654	0.85522	0.44663	D	AEFBCI	0.422085	0.48823	N	0.632367860663397	0.75231	6.269803	0.526582881682223	0.69785	5.410109	0.991712705357451	0.32584	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.98	5.98	0.97147	2.847000	0.47970	1.577000	0.27452	0.618000	0.50648	0.647000	0.28146	0.003000	0.18671	0.988000	0.63387	0.0:0.0:0.858:0.142	16.062	0.80647	177	0.93145	IQ motif, EF-hand binding site|IQ motif, EF-hand binding site|IQ motif, EF-hand binding site	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.021148	0.010101	0.020380	0.014620	0.100000	0.051724	0.033537	0.015152	0.07143	1144.44	38	chr1	197104066	.	G	A	1144.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.679;DP=323;ExcessHet=0;FS=2.936;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.79;ReadPosRankSum=0.156;SOR=0.659	GT:AD:DP:GQ:PL	0/1:36,47:83:99:1155,0,774	6	0	1	0
chr1	201387170	201387170	C	T	exonic	LAD1	.	nonsynonymous SNV	LAD1:NM_005558:exon3:c.G191A:p.S64N	.	416	1094	12	0	0	12	0.00545455	.	.	.	696381	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.126	0.010655477065	0.0011	0.00199681	0.0019	0	0.0013	0	0.0002	0.0024	0.0013	0.0042	0.0018111	280	154602	rs143280381	0.0013	0.0013	0.0012	0.0014	0.0095	0.0012	0.0012	0.0074	0.0066	0.0002	0.0016	0.0135	0	0.0002	0.0095	0.0009	0.0022	0.0030	0.0012	0.0012	0.0012	0.0013	0.0033	0.0011	0.0010	0.0021	0.0017	0.0002	0	0.0005	0.0153	0	0.0002	0	0.0015	0.0009	0.0033	0.0	0.91255	D	0.031	0.70582	D	0.999	0.77913	D	0.982	0.84481	D	0.001107	0.40219	N	0.235599	0.908114	0.36340	D	2.54	0.74080	M	2.33	0.16794	T	-2.2	0.50337	N	0.325	0.36569	-0.8954	0.48446	T	0.106	0.38587	T	10	0.006062001	0.00136	T	0.010655	0.27430	T	0.126	0.34673	.	.	0.104622674875	0.10061	0.039214810868750394	0.03867	0.497447347806	0.48245	0.466643422842	0.34221	T	0.208963	0.56904	T	-0.527928	0.00395	T	-0.531389	0.19147	T	0.135137468576431	0.15849	T	0.740126	0.37414	T	0.27455127	0.50520	0.28137487	0.54119	0.27455127	0.50520	0.28137487	0.54118	-6.291	0.48650	T	.	.	0.273	0.63329	B	.;.;.;.;.	.;.;.;.;.	2.640700	0.34361	19.61	0.99229407829368932	0.56183	0.34538	0.25091	N	AEFDBI	0.158150	0.28376	N	0.171522803344348	0.49836	3.179601	0.00945469408973119	0.40153	2.391793	0.999999912274535	0.74766	0.732398	0.92422	0	0.588066	0.40923	0	0.743671	0.96076	0	0.542086	0.14980	0	.	.	4.91	4.91	0.63897	3.074000	0.49763	2.128000	0.30762	0.545000	0.25583	0.417000	0.26305	0.944000	0.28851	0.031000	0.13245	0.0:1.0:0.0:0.0	13.593	0.61435	934	0.15400	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.007553	0.010101	0.006812	0.005848	0.000000	0.008621	0.015244	0.000000	0.07143	304.83	37	chr1	201387170	.	C	T	304.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.235;DP=220;ExcessHet=0;FS=3.251;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.83;ReadPosRankSum=-1.033;SOR=1.278	GT:AD:DP:GQ:PL	0/1:17,14:31:99:315,0,445	6	0	1	0
chr1	204444146	204444146	C	T	exonic	PIK3C2B	.	nonsynonymous SNV	PIK3C2B:NM_001377334:exon18:c.G2789A:p.C930Y,PIK3C2B:NM_002646:exon20:c.G2789A:p.C930Y,PIK3C2B:NM_001377335:exon21:c.G2705A:p.C902Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.336	0.0395205411741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.846e-07	1.368e-06	1.362e-06	0	9.001e-07	0	0	.	.	0	0	0	0	0	0	9.001e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.051	0.49390	T	0.999	0.77913	D	0.985	0.76457	D	0.000000	0.84330	D	0.000000	0.997849	0.44246	D	2.33	0.66821	M	0.01	0.62459	T	-4.37	0.77061	D	0.851	0.84817	-0.6521	0.62622	T	0.334	0.70101	T	10	0.7551726	0.75928	D	0.039521	0.58854	D	0.336	0.65816	0.312	0.28612	0.731197027204	0.72880	0.44362017305618334	0.44280	1.35405607476	0.84143	0.879551887512	0.93900	D	0.617515	0.87964	D	0.289904	0.82147	D	0.17865	0.81918	D	0.956505954265594	0.64774	D	0.920508	0.71260	D	0.453303	0.64250	0.49103993	0.70556	0.453303	0.64251	0.49103993	0.70557	-10.862	0.78895	D	.	.	0.601	0.79505	P	.;.	.;.	4.755519	0.76829	26.6	0.9976745670120315	0.85583	0.90357	0.51468	D	ALL	0.660412	0.63099	D	0.458512160282776	0.64688	4.728999	0.511871425671665	0.68789	5.26863	1.0	0.98316	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.674467	0.66132	0	.	.	5.98	5.98	0.97147	2.703000	0.46778	7.616000	0.62106	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.967000	0.53440	0.144:0.856:0.0:0.0	14.830	0.69772	648	0.63242	Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain;Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2857	776.49	69	chr1	204444146	.	C	T	776.49	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-3.669;DP=644;ExcessHet=2.5225;FS=250.412;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=1.58;ReadPosRankSum=1.17;SOR=9.926	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:46,15:61:18:.:.:18,0,845:.	3	0	4	0
chr1	205662905	205662905	C	T	exonic	SLC45A3	.	nonsynonymous SNV	SLC45A3:NM_033102:exon3:c.G886A:p.V296M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.564	0.0904829960504	0.0002	0.000199681	0.0002	9.966e-05	8.666e-05	0	0.0002	0.0003	0	0	0.0002264	35	154602	rs150262445	0.0005	0.0005	0.0005	0.0004	0.0006	0.0004	0.0004	0.0005	0.0005	0.0001	0	0.0002	2.52e-05	0.0002	0	0.0006	0.0005	1.16e-05	0.0003	0.0003	0.0004	0.0001	0.0006	0.0002	0.0002	0.0004	0.0004	7.217e-05	0	6.533e-05	0	0	9.411e-05	0	0.0006	0	0	0.16	0.23721	T	0.0	0.92824	D	0.997	0.70673	D	0.88	0.62516	P	0.000000	0.84330	D	0.000000	0.999497	0.47278	D	0.795	0.19620	N	-3.08	0.92560	D	-1.72	0.40850	N	0.479	0.51405	0.361	0.88509	D	0.757	0.91717	D	10	0.32744324	0.50027	T	0.090483	0.75526	D	0.564	0.82175	.	.	0.74702816087	0.74474	0.6539885887149182	0.65334	1.10781785835	0.77950	0.766590952873	0.76913	T	0.098908	0.40320	T	-0.125919	0.32158	T	-0.0714782	0.65520	T	0.263313442468643	0.23459	T	0.909009	0.67793	D	0.1496849	0.34112	0.1786371	0.40546	0.1496849	0.34112	0.1786371	0.40545	-5.23	0.39245	T	.	.	0.292	0.52343	B	.	.	3.816679	0.55084	23.6	0.99889344383874534	0.96359	0.94390	0.61013	D	AEFDBI	0.576190	0.57828	D	0.352243309990115	0.58856	4.060734	0.347433353321915	0.58353	4.005352	0.999999730465911	0.74766	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.662433	0.64102	0	.	.	5.13	4.2	0.48814	4.739000	0.61776	7.649000	0.63599	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.776000	0.36750	0.1481:0.8518:0.0:0.0	14.484	0.67183	685	0.59416	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	371.44	37	chr1	205662905	.	C	T	371.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.532;DP=251;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=5.9;ReadPosRankSum=0.462;SOR=0.721	GT:AD:DP:GQ:PL	0/1:41,22:63:99:382,0,965	6	0	1	0
chr1	214645259	214645259	T	C	exonic	CENPF	.	nonsynonymous SNV	CENPF:NM_016343:exon13:c.T5689C:p.F1897L	Stromme syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.00980712402638	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.293	0.14843	T	0.433	0.13595	T	.	.	.	.	.	.	0.387254	0.13306	N	0.622917	0.996025	0.23136	N	.	.	.	1.98	0.21865	T	-1.74	0.41239	N	0.163	0.17140	-0.9785	0.35345	T	0.033	0.14203	T	10	0.07286334	0.10934	T	0.009807	0.25586	T	0.078	0.22779	.	.	0.101711395817	0.09552	0.1427222850839343	0.14195	0.0596198842535	0.06628	0.393260717392	0.24128	T	.	.	.	-0.260978	0.12786	T	-0.612653	0.11770	T	0.274424522710853	0.23935	T	0.527047	0.17380	T	0.08159175	0.18754	0.074692726	0.16368	0.08159175	0.18754	0.074692726	0.16367	-2.043	0.03347	T	.	.	0.785	0.76596	P	.	.	1.885814	0.23953	16.21	0.97445370788974561	0.34002	0.87114	0.46557	D	AEFBCI	0.219672	0.34452	N	-0.641218653764995	0.17716	0.9139967	-0.539133036135939	0.21094	1.139528	0.992379880728038	0.32817	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.45	4.32	0.50899	3.081000	0.49818	1.110000	0.24149	0.644000	0.52426	1.000000	0.71638	0.016000	0.20520	0.957000	0.51019	0.0:0.1458:0.0:0.8542	9.207	0.36459	901	0.24189	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	161.88	42	chr1	214645259	.	T	C	161.88	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-3.76;DP=613;ExcessHet=1.383;FS=138.726;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=0.4;ReadPosRankSum=1.99;SOR=9.23	GT:AD:DP:GQ:PL	0/1:52,17:69:14:14,0,923	3	0	3	1
chr1	215671031	215671031	C	T	exonic	USH2A	.	nonsynonymous SNV	USH2A:NM_206933:exon64:c.G14074A:p.G4692R	Retinitis pigmentosa 39;Usher syndrome, type 2A, Autosomal recessive	0	1493	28	1	0	30	0.00994695	.	.	YES	57589	Usher_syndrome_type_2A|Retinitis_pigmentosa_39|not_specified|not_provided|Retinitis_pigmentosa	MONDO:MONDO:0010169,MedGen:C1848634,OMIM:276901,Orphanet:231178,Orphanet:886|MONDO:MONDO:0013436,MedGen:C3151138,OMIM:613809,Orphanet:791|MedGen:CN169374|MedGen:C3661900|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.433	0.56446389033	0.0048	0.00219649	0.0048	0.0014	0.0022	0	0.0023	0.0072	0.0011	0.0027	0.0050517	781	154602	rs45549044	0.0067	0.0067	0.0068	0.0066	0.0080	0.0066	0.0066	0.0078	0.0078	0.0012	0.0022	0.0004	5.038e-05	0.0027	0.0052	0.0080	0.0059	0.0032	0.0042	0.0042	0.0045	0.0039	0.0075	0.0039	0.0038	0.0069	0.0067	0.0015	0.0055	0.0014	0	0	0.0016	0.0102	0.0075	0.0043	0.0035	0.041	0.41915	D	0.006	0.70582	D	1.0	0.90584	D	0.987	0.77487	D	0.000996	0.40743	U	0.000000	0.972881	0.38981	D	1.63	0.41750	L	0.46	0.56281	T	-3.9	0.72932	D	0.751	0.75009	-0.7756	0.56548	T	0.190	0.54213	T	10	0.01668179	0.00353	T	0.564464	0.96037	D	0.433	0.73879	0.764	0.89213	0.873267043112	0.87203	0.6539209591646689	0.65328	0.228862989454	0.25439	0.423841416836	0.28365	T	0.313544	0.68529	T	-0.106726	0.35311	T	0.0875454	0.76081	D	0.0187997115715382	0.00591	T	0.859714	0.55187	D	0.2388664	0.46770	0.30004802	0.56038	0.2388664	0.46770	0.30004802	0.56037	-10.165	0.74893	D	0.7067154624936425	0.78641	0.345	0.56218	A	.	.	3.947307	0.57808	23.9	0.99580028881389804	0.72921	0.82560	0.41771	D	AEFI	0.265091	0.38229	N	0.186135652831798	0.50535	3.242436	0.102961599110356	0.44699	2.746691	0.311064590805169	0.19287	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.09	4.17	0.48303	3.484000	0.52965	5.915000	0.51078	0.599000	0.40250	0.994000	0.38300	1.000000	0.68203	0.796000	0.37562	0.0:0.9246:0.0:0.0754	13.484	0.60812	656	0.62345	Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.004532	0.000000	0.001359	0.005848	0.000000	0.008621	0.003049	0.007576	0.07143	642.45	33	chr1	215671031	.	C	T	642.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.15;DP=247;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.92;ReadPosRankSum=-2.691;SOR=0.693	GT:AD:DP:GQ:PL	0/1:42,30:72:99:653,0,919	6	0	1	0
chr1	228305272	228305272	A	G	exonic	OBSCN	.	nonsynonymous SNV	OBSCN:NM_001271223:exon54:c.A14416G:p.R4806G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.273	0.128516760158	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	2.519e-05	0	0	.	.	0	0	0	2.519e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.69154	D	.	.	.	.	.	.	.	.	.	.	0.995185	0.81001	D	.	.	.	-0.3	0.67874	T	.	.	.	0.385	0.42639	-0.6629	0.62148	T	0.290	0.66172	T	6	0.3285376	0.50121	T	0.128517	0.81046	D	0.273	0.58883	.	.	0.499793596984	0.49617	0.39938145470763226	0.39853	0.536741138973	0.51004	0.331087321043	0.15098	T	.	.	.	0.0143616	0.53619	T	-0.217147	0.53010	T	0.929758163441268	0.59401	D	0.815518	0.47040	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	3.187232	0.43288	21.7	0.95515282199036966	0.27125	0.98799	0.87003	D	AEFDBI	0.654657	0.62726	D	0.0303623742461739	0.43239	2.620821	0.0404952075830219	0.41615	2.503117	0.999932495433131	0.46732	0.634777	0.41761	0	0.573888	0.26702	0	0.643519	0.47002	0	0.613276	0.41899	0	.	.	4.56	4.56	0.55644	5.916000	0.69712	3.904000	0.40368	0.660000	0.55035	1.000000	0.71638	0.999000	0.35428	0.194000	0.21720	1.0:0.0:0.0:0.0	14.091	0.64513	446	0.79659	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1697.44	36	chr1	228305272	.	A	G	1697.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.762;DP=351;ExcessHet=0;FS=1.265;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.61;ReadPosRankSum=-0.855;SOR=0.831	GT:AD:DP:GQ:PL	0/1:89,71:160:99:1708,0,2200	6	0	1	0
chr1	230979199	230979199	T	C	exonic	ARV1	.	nonsynonymous SNV	ARV1:NM_001346992:exon1:c.T94C:p.Y32H,ARV1:NM_022786:exon1:c.T94C:p.Y32H	Epileptic encephalopathy, early infantile, 38, Autosomal recessive	430	1091	1	0	0	1	0.000458085	.	.	.	438655	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.351	.	0.0097	0.0129792	0.0028	0.0295	0.0016	0	0	0.0002	0.0011	0	0.0027555	426	154602	rs34745784	0.0010	0.0010	0.0011	0.0008	0.0328	0.0009	0.0009	0.0312	0.0306	0.0328	0.0016	0	0	0	0.0012	8.725e-05	0.0018	6.964e-05	0.0090	0.0090	0.0093	0.0087	0.0311	0.0086	0.0084	0.0297	0.0291	0.0311	0	0.0025	0	0	0	0	0.0002	0.0090	0	0.028	0.72154	D	0.0	0.92824	D	0.999	0.77913	D	0.985	0.76457	D	0.000018	0.62929	D	0.071905	0.999896	0.50595	D	2.78	0.81115	M	0.77	0.63403	T	-3.09	0.63438	D	0.82	0.81559	-0.5065	0.68414	T	0.148	0.47344	T	10	0.009450704	0.00213	T	.	.	.	0.351	0.67234	.	.	0.930361968889	0.92965	0.7025590410380408	0.70196	0.563462233489	0.52778	0.529721260071	0.42995	T	0.362476	0.75102	T	-0.370016	0.03593	T	-0.280594	0.46743	T	0.0185878579180475	0.00573	T	0.811819	0.46746	T	0.54893947	0.69897	0.55186117	0.74086	0.5795805	0.71587	0.58932567	0.76176	-9.495	0.70828	D	0.5547386362977352	0.62299	0.594	0.80404	P	.;.	.;.	5.118241	0.85593	28.6	0.99852860518548825	0.93191	0.94768	0.62263	D	ALL	0.762256	0.69972	D	0.711006490042861	0.80354	7.275787	0.683821107663486	0.81150	7.460078	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	5.31	5.31	0.75063	6.652000	0.74228	7.897000	0.73349	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.953000	0.50222	0.0:0.0:0.0:1.0	15.266	0.73355	830	0.39242	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.003024	0.010101	0.002717	0.000000	0.000000	0.000000	0.003067	0.003788	0.07143	707.44	37	chr1	230979199	.	T	C	707.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.585;DP=258;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.72;ReadPosRankSum=-1.664;SOR=0.713	GT:AD:DP:GQ:PL	0/1:35,31:66:99:718,0,807	6	0	1	0
chr1	243330649	243330649	T	C	exonic	SDCCAG8	.	nonsynonymous SNV	SDCCAG8:NM_001350249:exon10:c.T884C:p.M295T,SDCCAG8:NM_006642:exon10:c.T1178C:p.M393T,SDCCAG8:NM_001350247:exon11:c.T275C:p.M92T,SDCCAG8:NM_001350248:exon11:c.T1274C:p.M425T,SDCCAG8:NM_001350246:exon12:c.T275C:p.M92T,SDCCAG8:NM_001350251:exon13:c.T275C:p.M92T	Bardet-Biedl syndrome 16, Autosomal recessive;Senior-Loken syndrome 7	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.0097323393981	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.848e-07	6.841e-07	1.363e-06	0	9.004e-07	0	0	.	.	0	0	0	0	0	0	9.004e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.338	0.25768	T	0.033	0.53072	D	0.288	0.32258	B	0.142	0.33681	B	0.014502	0.28512	N	0.453510	0.991261	0.24058	N	2.35	0.67516	M	0.96	0.42888	T	-1.36	0.39119	N	0.326	0.36674	-1.0039	0.28785	T	0.097	0.36393	T	10	0.17887664	0.32995	T	0.009732	0.25404	T	0.074	0.21613	0.189	0.09907	0.483448007585	0.47975	0.09831529846527605	0.09762	0.077331380461	0.08693	0.505008280277	0.39526	T	0.01979	0.21521	T	-0.0887363	0.38287	T	-0.36524	0.37444	T	0.598834455013275	0.36354	D	0.759724	0.38410	T	0.19019835	0.40594	0.10757766	0.25900	0.19019835	0.40594	0.10757766	0.25899	-6.297	0.48698	T	0.14363118300184172	0.16344	0.331	0.55320	B	.;.	.;.	2.324314	0.29769	18.23	0.95285732624943364	0.26586	0.92014	0.54755	D	AEFBI	0.442092	0.49996	N	-0.0401053196164673	0.40046	2.371564	0.107935306068944	0.44954	2.767287	0.989291218126179	0.31780	0.638212	0.43195	0	0.653731	0.59785	0	0.653264	0.51672	0	0.635551	0.53088	0	.	.	5.78	5.78	0.91418	4.591000	0.60729	3.506000	0.38809	0.665000	0.62972	0.999000	0.42656	1.000000	0.68203	0.888000	0.42677	0.0:0.0:0.0:1.0	12.493	0.55251	590	0.68897	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	350.92	121	chr1	243330649	.	T	C	350.92	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-3.776;DP=555;ExcessHet=0.4139;FS=122.334;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=1.46;ReadPosRankSum=2.7;SOR=7.427	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:85,34:119:99:.:.:105,0,1229:.	4	0	2	1
chr1	247606390	247606390	G	A	exonic	OR2G3	.	nonsynonymous SNV	OR2G3:NM_001001914:exon1:c.G805A:p.D269N	.	433	1077	12	0	0	12	0.00554017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.000813674228055	0.0010	0.000798722	0.0013	9.73e-05	0	0	0	0.0015	0.0044	0.0031	0.0011513	178	154602	rs138441168	0.0008	0.0008	0.0007	0.0010	0.0146	0.0008	0.0008	0.0121	0.0111	0.0002	0.0002	0.0095	2.519e-05	3.745e-05	0.0146	0.0005	0.0018	0.0031	0.0008	0.0008	0.0008	0.0008	0.0046	0.0007	0.0006	0.0031	0.0026	7.231e-05	0	0.0006	0.0101	0	0	0.0171	0.0006	0.0024	0.0046	0.132	0.26519	T	0.137	0.33894	T	0.062	0.23277	B	0.152	0.34249	B	0.001646	0.38382	U	0.000000	1	0.08975	N	1.52	0.38360	L	8.67	0.00132	T	-2.81	0.59389	D	0.041	0.01421	-1.0280	0.21103	T	0.000	0.00152	T	10	0.0052327514	0.00114	T	8.14E-4	0.00649	T	0.056	0.15993	.	.	0.364342057095	0.36045	0.038446538627076886	0.03790	0.0553219456686	0.06117	0.245314985514	0.03291	T	0.00793	0.07302	T	-0.710398	0.00032	T	-0.796578	0.01990	T	0.0244655741298573	0.01203	T	0.0950905	0.00708	T	0.1297703	0.30300	0.12112958	0.29228	0.1297703	0.30300	0.12112958	0.29228	-5.439	0.41293	T	.	.	0.096	0.15520	B	.	.	1.373352	0.17837	13.40	0.99156739482070833	0.53987	0.01867	0.05758	N	AEFI	0.033845	0.04088	N	-0.506211367755261	0.21879	1.164329	-0.480948254968767	0.22678	1.233015	2.66090989677694E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.65	2.73	0.31266	-0.137000	0.10369	.	.	0.560000	0.28382	0.000000	0.06391	0.000000	0.08366	0.933000	0.47100	0.1179:0.2102:0.672:0.0	5.263	0.14896	895	0.25842	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009567	0.005051	0.002717	0.017544	0.000000	0.051724	0.009146	0.007576	0.07143	753.44	55	chr1	247606390	.	G	A	753.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.09;DP=479;ExcessHet=0;FS=1.142;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.38;ReadPosRankSum=0.642;SOR=0.486	GT:AD:DP:GQ:PL	0/1:20,29:49:99:764,0,440	6	0	1	0
chr1	247738686	247738686	G	-	exonic	OR14K1	.	frameshift deletion	OR14K1:NM_001004732:exon1:c.72delG:p.H25Mfs*7	.	432	1076	14	0	0	14	0.00646353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0009	0.000998403	0.0012	0.0001	0.0004	0	0	0.0013	0.0045	0.0032	0.0001537	4	26028	rs568673953	0.0011	0.0011	0.0010	0.0013	0.0147	0.0011	0.0010	0.0118	0.0107	0.0002	0.0005	0.0055	0	1.883e-05	0.0147	0.0008	0.0015	0.0028	0.0007	0.0007	0.0008	0.0007	0.0042	0.0006	0.0006	0.0028	0.0023	0.0001	0	0.0015	0.0058	0	0	0.0102	0.0005	0.0028	0.0042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1076.4	37	chr1	247738685	.	TG	T	1076.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.277;DP=266;ExcessHet=0;FS=0.884;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.29;ReadPosRankSum=-1.536;SOR=0.538	GT:AD:DP:GQ:PL	0/1:48,33:81:99:1087,0,1691	6	0	1	0
chr1	248406509	248406509	G	A	exonic	OR2T1	.	nonsynonymous SNV	OR2T1:NM_030904:exon1:c.G515A:p.R172H	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.406	0.00780496591234	7.7e-05	.	0.0001	9.61e-05	0.0006	0.0001	0	1.499e-05	0	0.0002	8.41e-05	13	154602	rs201499018	3.215e-05	3.215e-05	3.403e-05	3.025e-05	0.0003	2.478e-05	2.22e-05	0.0002	0.0001	2.987e-05	0.0003	0	2.519e-05	0	0.0002	1.889e-05	4.967e-05	9.275e-05	2.63e-05	2.627e-05	3.855e-05	1.346e-05	6.551e-05	8.15e-06	5.14e-06	1.171e-05	6.25e-06	0	0	6.551e-05	0	0	0	0	4.411e-05	0	0	0.021	0.49117	D	0.007	0.69154	D	0.206	0.29860	B	0.041	0.23986	B	0.002091	0.37271	U	0.000000	0.574446	0.32321	D	1.805	0.47535	L	-1.1	0.77336	T	-4.41	0.77391	D	0.392	0.43320	-0.3348	0.73994	T	0.337	0.70371	T	10	0.24417177	0.41643	T	0.007805	0.20694	T	0.406	0.71869	.	.	0.857322076476	0.85594	0.7415535566684816	0.74101	0.0123924855139	0.01177	0.203986912966	0.00582	T	0.140757	0.47547	T	-0.186674	0.22748	T	-0.213772	0.53335	T	0.0823738415677297	0.10288	T	0.878912	0.59457	D	0.19754717	0.41624	0.16778968	0.38690	0.19754717	0.41623	0.16778968	0.38689	-8.21	0.62492	D	.	.	0.216	0.52736	B	.;.	.;.	3.334295	0.45915	22.2	0.99706380932897554	0.81005	0.78880	0.38986	D	AEFBCI	0.539676	0.55655	D	-0.0406712334461894	0.40019	2.369639	0.0336381609455862	0.41287	2.478002	0.971644330597367	0.29304	0.487112	0.14033	0	0.468601	0.06657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.75	2.89	0.32713	5.058000	0.64127	0.069000	0.14235	-0.129000	0.13216	0.920000	0.31959	0.000000	0.08366	0.984000	0.60418	0.1668:0.0:0.8332:0.0	10.135	0.41874	982	0.03397	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.07143	1156.44	74	chr1	248406509	.	G	A	1156.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.033;DP=583;ExcessHet=0;FS=0.824;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.93;ReadPosRankSum=-0.282;SOR=0.563	GT:AD:DP:GQ:PL	0/1:41,42:83:99:1167,0,1101	6	0	1	0
chr2	21002134	21002134	A	T	exonic	APOB	.	nonsynonymous SNV	APOB:NM_000384:exon29:c.T13288A:p.S4430T	Hypercholesterolemia, due to ligand-defective apo B, Autosomal dominant;Hypobetalipoproteinemia, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	389479	Hypercholesterolemia,_autosomal_dominant,_type_B|Familial_hypobetalipoproteinemia_1|not_specified|Cardiovascular_phenotype|not_provided	MONDO:MONDO:0007751,MedGen:C1704417,OMIM:144010|MONDO:MONDO:0014252,MedGen:C4551990,OMIM:615558|MedGen:CN169374|MedGen:CN230736|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.267	0.0111273684726	7.7e-05	.	0.0001	0	0.0004	0	0	0.0001	0	0	9.06e-05	14	154602	rs72654426	6.294e-05	6.293e-05	5.718e-05	6.876e-05	0.0003	5.228e-05	4.846e-05	6.092e-05	5.28e-05	0	0.0001	0	0	0	0.0003	7.015e-05	9.936e-05	0	7.885e-05	7.88e-05	5.14e-05	0.0001	0.0002	4.497e-05	3.512e-05	5.287e-05	3.339e-05	2.413e-05	0	0.0002	0	0	0	0	0.0001	0	0.0002	0.627	0.05198	T	0.469	0.12281	T	.	.	.	.	.	.	0.198837	0.16653	N	0.540328	1	0.08975	N	.	.	.	5.77	0.00687	T	0.12	0.05604	N	0.646	0.65758	-0.9458	0.41681	T	0.001	0.00378	T	10	0.36454415	0.52997	T	0.011127	0.28436	T	0.267	0.58126	.	.	0.398872588132	0.39498	0.13808639027117178	0.13732	0.0347712706754	0.03660	0.288953959942	0.08771	T	.	.	.	-0.332931	0.05892	T	-0.460963	0.26495	T	0.0343920662674163	0.02704	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.05404	B	.	.	-0.874435	0.00969	0.038	0.61855317278671507	0.06814	0.10827	0.16220	N	AEFBHCI	0.258772	0.37725	N	-1.45270842318548	0.02195	0.09667277	-1.42485533350992	0.03005	0.1393747	0.920374422082663	0.26630	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.79	-2.23	0.06539	-0.694000	0.05217	-3.755000	0.02559	-0.265000	0.06832	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.3437:0.4154:0.0912:0.1496	2.867	0.05259	861	0.33516	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.017241	0.003049	0.003788	0.07143	1037.44	57	chr2	21002134	.	A	T	1037.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.504;DP=281;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.83;ReadPosRankSum=0.543;SOR=0.741	GT:AD:DP:GQ:PL	0/1:34,41:75:99:1048,0,768	6	0	1	0
chr2	23864893	23864893	T	C	exonic	ATAD2B	.	nonsynonymous SNV	ATAD2B:NM_001242338:exon11:c.A1220G:p.H407R,ATAD2B:NM_017552:exon11:c.A1220G:p.H407R,ATAD2B:NM_001354107:exon12:c.A1262G:p.H421R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.0116478170939	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.077e-06	4.105e-06	4.129e-06	0	2.717e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.717e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.448	0.09048	T	0.527	0.10209	T	.	.	.	.	.	.	.	.	.	.	0.955574	0.37932	D	.	.	.	-3.53	0.94764	D	-1.58	0.38151	N	0.19	0.20793	-0.8923	0.48731	T	0.148	0.47344	T	9	0.17789313	0.32846	T	0.011648	0.29486	T	0.219	0.51417	0.331	0.31681	0.672754582956	0.66998	0.6648068104265349	0.66417	0.60285670828	0.55282	0.627035319805	0.56724	T	.	.	.	0.0664316	0.60411	T	-0.142352	0.59914	T	0.361597471305519	0.27471	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	0.11845	B	.	.	3.381871	0.46779	22.4	0.96857722296242954	0.31369	0.92978	0.57018	D	AEFBI	0.378817	0.46207	N	0.214845505970457	0.51920	3.369515	0.360670962237465	0.59152	4.090821	0.916302595852516	0.26509	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.84	5.84	0.93373	4.206000	0.58271	6.222000	0.55136	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	16.532	0.84210	788	0.46569	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	289.31	14	chr2	23864893	.	T	C	289.31	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-0.963;DP=233;ExcessHet=2.5225;FS=229.459;MLEAC=5;MLEAF=0.417;MQ=60;MQRankSum=0;QD=1.52;ReadPosRankSum=1.86;SOR=8.286	GT:AD:DP:GQ:PL	0/1:20,9:29:40:40,0,249	2	0	4	1
chr2	47176510	47176510	C	G	exonic	CALM2	.	nonsynonymous SNV	CALM2:NM_001305624:exon1:c.G32C:p.S11T	Long QT syndrome 15, Autosomal dominant	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.182	.	.	.	1.318e-05	0	0	0	0	2.439e-05	0	0	1.29e-05	2	154602	rs777643730	2.065e-06	2.736e-06	0	4.156e-06	1.805e-06	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	0	0	0	1.805e-06	1.665e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-0.86	0.74477	T	0.06	0.06253	N	.	.	0.087	0.83941	D	0.508	0.81507	D	6	0.31939664	0.49327	T	.	.	.	0.182	0.45420	0.488	0.57257	0.246926113748	0.24311	.	.	.	.	.	.	.	0.005767	0.05219	T	-0.0624472	0.42524	T	-0.302297	0.44482	T	0.608293235301971	0.36732	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.602599	0.33784	19.44	0.91102040483527758	0.20355	0.96381	0.68860	D	ALL	0.035875	0.04689	N	0.261797898710474	0.54225	3.588622	0.319115386744345	0.56665	3.83006	1.0	0.98316	0.468429	0.09910	2	0.093493	0.02558	3	0.504199	0.09095	0	0.241949	0.04745	2	.	.	5.5	4.62	0.56946	2.364000	0.43840	4.647000	0.44180	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.1544:0.8456:0.0:0.0	13.812	0.62758	845	0.36510	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	252.63	37	chr2	47176510	.	C	G	252.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.53;DP=202;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.11;ReadPosRankSum=-0.49;SOR=0.836	GT:AD:DP:GQ:PL	0/1:12,13:25:99:263,0,252	6	0	1	0
chr2	54892634	54892634	T	A	exonic	EML6	.	nonsynonymous SNV	EML6:NM_001039753:exon18:c.T2720A:p.F907Y	.	435	1079	8	0	0	8	0.00369344	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.252	0.0167439593543	0.0020	0.000599042	0.0022	0.0004	0.0024	0	0	0.0016	0	0.0041	0.000608	94	154602	rs200933456	0.0020	0.0019	0.0019	0.0021	0.0037	0.0019	0.0019	0.0033	0.0032	0.0004	0.0006	0.0016	0	0	0.0032	0.0021	0.0016	0.0037	0.0012	0.0012	0.0011	0.0012	0.0035	0.0010	0.0010	0.0022	0.0018	0.0002	0	0.0010	0.0020	0	0	0.0034	0.0019	0.0014	0.0035	0.002	0.72154	D	0.043	0.49942	D	0.996	0.68779	D	0.941	0.67658	D	0.000079	0.52346	U	0.000000	0.999862	0.50061	D	2.33	0.66821	M	5.09	0.01238	T	-2.5	0.54382	D	0.676	0.68342	-1.0633	0.10950	T	0.017	0.06902	T	10	0.018154949	0.00393	T	0.016744	0.38138	T	0.252	0.56159	.	.	0.42069145522	0.41685	0.49512352521516345	0.49433	0.724235548467	0.62377	0.85028475523	0.89658	D	0.047503	0.27741	T	-0.333155	0.05876	T	-0.25185	0.49635	T	0.0360129637344373	0.02983	T	0.884811	0.60904	D	0.5425161	0.69537	0.51953757	0.72241	0.5425161	0.69538	0.51953757	0.72241	-7.601	0.58318	D	.	.	0.641	0.70548	P	.	.	4.545920	0.71494	25.7	0.99670825334660029	0.78587	0.97893	0.77924	D	AEFBI	0.896423	0.83747	D	0.72273345412817	0.81122	7.449055	0.722484379339919	0.84087	8.195066	0.999989663811	0.51787	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.55	5.55	0.83298	7.585000	0.81876	7.784000	0.68736	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.0:1.0	15.696	0.77252	334	0.86273	WD40-repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002451	0.000000	0.000000	0.000000	0.000000	0.000000	0.011765	0.000000	0.07143	618.46	32	chr2	54892634	.	T	A	618.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.07;DP=218;ExcessHet=0;FS=1.298;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.08;ReadPosRankSum=-0.842;SOR=1.101	GT:AD:DP:GQ:PL	0/1:18,23:41:99:629,0,384	6	0	1	0
chr2	70993734	70993734	T	C	exonic	TEX261	.	nonsynonymous SNV	TEX261:NM_144582:exon2:c.A112G:p.T38A	.	428	1090	4	0	0	4	0.0018315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.364	.	0.0007	0.0107827	0.0079	0.0002	0.0423	0.0302	0.0057	0.0019	0.0033	0.0021	0.0073673	1139	154602	rs151285112	0.0027	0.0027	0.0029	0.0025	0.0377	0.0026	0.0026	0.0362	0.0356	0.0003	0.0377	0.0053	0.0225	0.0057	0.0006	0.0004	0.0040	0.0017	0.0043	0.0043	0.0039	0.0048	0.0245	0.0040	0.0039	0.0220	0.0212	0.0005	0	0.0241	0.0063	0.0245	0.0043	0	0.0007	0.0090	0.0012	0.004	0.65419	D	0.009	0.72224	D	0.979	0.59044	D	0.973	0.72923	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.53	0.73802	M	.	.	.	-3.83	0.72120	D	0.785	0.78356	-0.3919	0.72282	T	0.262	0.63339	T	9	0.009312004	0.00210	T	.	.	.	0.364	0.68407	.	.	0.244539031024	0.24083	0.9567365325411059	0.95658	2.76950302636	0.98794	0.747094035149	0.74018	T	0.303789	0.67612	T	-0.0878043	0.38437	T	0.129667	0.78872	D	0.0219382681559926	0.00902	T	0.851715	0.56785	D	0.50696236	0.67502	0.340587	0.59809	0.50696236	0.67503	0.340587	0.59808	-3.864	0.21764	T	.	.	0.636	0.72332	P	.;.	.;.	4.742912	0.76508	26.5	0.99817844683714196	0.90061	0.94132	0.60209	D	AEFDBHCI	0.889863	0.82435	D	0.741130192078565	0.82326	7.735127	0.707858982232676	0.82975	7.902083	0.999999999977627	0.74766	0.660085	0.49399	0	0.685571	0.66316	0	0.662677	0.59975	0	0.638787	0.57140	0	.	.	5.17	5.17	0.70848	7.280000	0.77977	7.874000	0.72122	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	13.011	0.58139	844	0.36711	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	143.53	35	chr2	70993734	.	T	C	143.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.09;DP=212;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=5.98;ReadPosRankSum=1.04;SOR=0.512	GT:AD:DP:GQ:PL	0/1:18,6:24:99:154,0,417	6	0	1	0
chr2	73491392	73491392	A	G	exonic	ALMS1	.	nonsynonymous SNV	ALMS1:NM_001378454:exon10:c.A9433G:p.I3145V,ALMS1:NM_015120:exon10:c.A9433G:p.I3145V	Alstrom syndrome, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	1512996	Alstrom_syndrome	MONDO:MONDO:0008763,MedGen:C0268425,OMIM:203800,Orphanet:64	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.039	0.00179653066477	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs767987000	7.525e-06	7.524e-06	1.089e-05	4.125e-06	0.0002	4.04e-06	2.95e-06	3.81e-06	2.76e-06	0	2.236e-05	0	0	0	0.0002	8.094e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.857	0.03438	T	.	.	.	.	.	.	0.808357	0.09270	N	0.902049	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.051	0.02366	-0.9464	0.41582	T	0.014	0.05705	T	10	0.05925542	0.07093	T	0.001797	0.03089	T	.	.	.	.	0.156986980423	0.15292	0.013586750480120232	0.01316	.	.	0.335635155439	0.15783	T	0.012815	0.11196	T	-0.235653	0.15909	T	-0.493411	0.23033	T	0.0146883392456449	0.00305	T	0.505449	0.15971	T	0.025452707	0.01485	0.0642278	0.12840	0.025452707	0.01484	0.0642278	0.12840	-3.126	0.11597	T	0.15670904715840114	0.18874	0.093	0.14062	B	.;.;.	.;.;.	0.831945	0.12032	8.590	0.92142440387811841	0.21500	0.01575	0.05137	N	AEFBI	0.030959	0.03216	N	-0.796096574645153	0.13411	0.6604848	-0.813609417435319	0.14166	0.7388027	6.3126400947501E-5	0.04366	0.706298	0.61202	0	0.670034	0.63936	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	4.25	0.432	0.15742	0.355000	0.19902	1.594000	0.27546	0.754000	0.88378	0.000000	0.06391	0.029000	0.21193	0.978000	0.57271	0.5276:0.0:0.1022:0.3702	3.192	0.06226	658	0.62094	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	576.46	39	chr2	73491392	.	A	G	576.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.119;DP=241;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.88;ReadPosRankSum=-1.082;SOR=0.848	GT:AD:DP:GQ:PL	0/1:29,24:53:99:587,0,720	6	0	1	0
chr2	94876587	94876587	C	A	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C580A:p.L194I,TEKT4:NM_144705:exon6:c.C1126A:p.L376I	.	432	641	448	0	1	449	0.25896	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.0024401301091	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs74658435	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.207	0.29891	B	0.092	0.30031	B	0.004769	0.33407	N	0.246841	0.99495	0.23405	N	0.755	0.19153	N	4.47	0.02084	T	0.82	0.01813	N	0.154	0.15888	-0.8811	0.49673	T	0.003	0.01026	T	10	0.04464045	0.03444	T	0.00244	0.04813	T	0.085	0.24743	0.341	0.33302	0.0716867268079	0.06686	0.19181908011527898	0.19099	0.0456283365019	0.04953	0.691997289658	0.65993	T	0.022278	0.17204	T	-0.227197	0.17020	T	-0.564129	0.15990	T	0.118842300974592	0.14317	T	0.485551	0.14815	T	0.08219759	0.18923	0.12475681	0.30067	0.08219759	0.18923	0.12475681	0.30067	-2.689	0.07211	T	.	.	0.085	0.10014	B	.	.	0.349679	0.07231	3.825	0.6655202341939721	0.08092	0.00372	0.01892	N	AEFDGBI	0.024577	0.01544	N	-1.14107701514534	0.05928	0.2715614	-1.13613817439115	0.07019	0.3399133	3.91639178412095E-4	0.06820	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.562822	0.20929	0	.	.	2.43	1.05	0.19280	-0.335000	0.07917	2.530000	0.33163	0.302000	0.18967	0.001000	0.13787	1.000000	0.68203	0.052000	0.15357	0.3227:0.6773:0.0:0.0	7.455	0.26431	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4286	2800.15	163	chr2	94876587	.	C	A	2800.15	.	AC=6;AF=0.429;AN=14;BaseQRankSum=1.58;DP=1332;ExcessHet=8.2628;FS=9.57;MLEAC=6;MLEAF=0.429;MQ=57.92;MQRankSum=-15.02;QD=2.14;ReadPosRankSum=-2.425;SOR=1.776	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:111,8:119:2:0|1:94876587_C_A:2,0,4637:94876587	1	0	6	0
chr2	94876618	94876618	C	G	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C611G:p.A204G,TEKT4:NM_144705:exon6:c.C1157G:p.A386G	.	432	224	865	0	1	866	0.658797	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.223	0.00662812679854	.	.	.	.	.	.	.	.	.	.	0.0002781	43	154602	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.026	0.55759	D	0.986	0.61523	D	0.919	0.65474	D	0.000066	0.52346	D	0.125962	0.999996	0.58761	D	3.695	0.94570	H	3.93	0.03435	T	-2.62	0.56301	D	0.22	0.24634	-1.1093	0.03130	T	0.045	0.19478	T	10	0.34525645	0.51502	T	0.006628	0.17501	T	0.223	0.52023	0.627	0.76254	0.325533332567	0.32158	0.46843450301837664	0.46762	0.206080854031	0.23033	0.606577515602	0.53832	T	0.278563	0.65122	T	-0.0817015	0.39437	T	-0.355135	0.38615	T	0.993828952312469	0.84790	D	0.723528	0.33695	T	0.19832417	0.41730	0.4733884	0.69475	0.19832417	0.41730	0.4733884	0.69476	-7.747	0.59334	D	.	.	0.123	0.25656	B	.	.	3.340079	0.46023	22.2	0.99465032145053101	0.65996	0.46731	0.27825	N	AEFDGBI	0.300572	0.40933	N	0.291003033652373	0.55691	3.733242	0.0724350553839575	0.43168	2.624199	0.878548229655452	0.25568	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.604944	0.38103	0	.	.	2.43	2.43	0.28797	3.467000	0.52842	4.098000	0.41847	0.302000	0.18967	0.053000	0.21524	0.999000	0.35428	0.607000	0.31564	0.0:1.0:0.0:0.0	10.548	0.44261	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4286	11628.6	212	chr2	94876618	.	C	G	11628.6	.	AC=6;AF=0.429;AN=14;BaseQRankSum=1.18;DP=1811;ExcessHet=8.2628;FS=2.242;MLEAC=6;MLEAF=0.429;MQ=56.71;MQRankSum=-17.41;QD=6.52;ReadPosRankSum=-2.766;SOR=0.944	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:145,25:170:99:0|1:94876587_C_A:613,0,6013:94876587	1	0	6	0
chr2	94876632	94876632	C	T	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C625T:p.R209C,TEKT4:NM_144705:exon6:c.C1171T:p.R391C	.	431	192	898	1	0	900	0.700935	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.180	0.00282003103799	.	.	0.0020	0.0044	0.0012	0.0058	0	0.0016	0.0025	0.0012	0.00073	19	26028	rs72817671	5.478e-06	9.577e-06	5.451e-06	5.507e-06	7.196e-06	2.36e-06	1.7e-06	3.1e-06	2.24e-06	0	0	0	0	0	0	7.196e-06	0	0	2.629e-05	2.627e-05	1.285e-05	4.036e-05	0.0002	8.14e-06	5.14e-06	4.88e-06	1.83e-06	2.414e-05	0	0	0	0	0	0	2.94e-05	0	0.0002	0.078	0.33923	T	0.094	0.39645	T	0.048	0.22112	B	0.017	0.18140	B	0.104906	0.19681	N	0.502966	0.998961	0.45775	D	2.51	0.73131	M	4.19	0.02716	T	-4.17	0.75456	D	0.327	0.36779	-0.9567	0.39789	T	0.009	0.03315	T	10	0.010076523	0.00226	T	0.00282	0.05898	T	0.180	0.45073	.	.	0.280181792013	0.27631	0.3283832477789456	0.32751	0.0418521914883	0.04503	0.566292226315	0.48154	T	0.161975	0.50645	T	-0.0952065	0.37216	T	-0.374534	0.36360	T	0.0299758459612643	0.01985	T	0.763824	0.39073	T	0.11296644	0.26684	0.099358894	0.23720	0.11296644	0.26684	0.099358894	0.23719	-7.259	0.55903	T	.	.	0.087	0.11414	B	.	.	2.884469	0.38179	20.7	0.9739629417086707	0.33750	0.03769	0.09084	N	AEFDGBI	0.024782	0.01590	N	-0.521150392773251	0.21396	1.135229	-0.512733045882346	0.21807	1.181449	3.92921537291663E-4	0.06820	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.604944	0.38103	0	.	.	2.43	1.05	0.19280	0.158000	0.16239	-0.300000	0.10122	0.302000	0.18967	0.046000	0.21249	0.000000	0.08366	0.706000	0.34326	0.5496:0.4504:0.0:0.0	6.095	0.19238	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.015609	0.035354	0.004076	0.005848	0.000000	0.008621	0.033537	0.018939	0.5	15709.3	250	chr2	94876632	.	C	T	15709.3	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-2.741;DP=2072;ExcessHet=8.2628;FS=0;MLEAC=6;MLEAF=0.5;MQ=56.16;MQRankSum=-18.49;QD=7.88;ReadPosRankSum=-1.33;SOR=0.684	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:155,40:195:99:0|1:94876587_C_A:1213,0,6319:94876587	0	0	6	1
chr2	94876671	94876671	A	G	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.A664G:p.I222V,TEKT4:NM_144705:exon6:c.A1210G:p.I404V	.	425	183	912	2	0	916	0.714509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.00380674609401	.	.	.	.	.	.	.	.	.	.	0.000461	12	26028	rs142133592	3.422e-06	3.42e-06	4.086e-06	2.751e-06	3.597e-06	1e-06	7.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.597e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.044	0.49663	D	0.967	0.56408	D	0.77	0.56828	P	0.000003	0.62929	D	0.059094	0.999993	0.58761	D	2.465	0.71551	M	3.8	0.03781	T	-0.93	0.24898	N	0.355	0.39659	-1.1543	0.00903	T	0.035	0.15030	T	10	0.2894683	0.46528	T	0.003807	0.08899	T	0.186	0.46104	.	.	0.0716867268079	0.06686	0.38576410498893454	0.38491	0.041304716601	0.04434	0.519737362862	0.41590	T	0.070106	0.33877	T	-0.102007	0.36092	T	-0.384302	0.35219	T	0.773092746734619	0.44626	D	0.518148	0.16784	T	0.11624111	0.27419	0.19920714	0.43791	0.11624111	0.27418	0.19920714	0.43790	-6.086	0.46993	T	.	.	0.080	0.07650	B	.	.	2.197892	0.28028	17.66	0.99758744490040718	0.84851	0.77619	0.38185	D	AEFDGBI	0.245424	0.36636	N	0.178097147237031	0.50149	3.207675	0.0117110839863197	0.40257	2.399706	0.274437957628434	0.18925	0.646311	0.45356	0	0.626922	0.53725	0	0.478664	0.07449	1	0.699875	0.68795	0	.	.	2.43	2.43	0.28797	2.475000	0.44821	2.894000	0.35409	0.373000	0.20310	0.967000	0.34061	1.000000	0.68203	0.500000	0.29017	1.0:0.0:0.0:0.0	8.354	0.31480	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	19027.1	303	chr2	94876671	.	A	G	19027.1	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-6.487;DP=2361;ExcessHet=14.2834;FS=1.276;MLEAC=7;MLEAF=0.5;MQ=55.94;MQRankSum=-19.83;QD=8.13;ReadPosRankSum=3.99;SOR=0.582	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:170,49:219:99:0|1:94876671_A_G:1546,0,6870:94876671	0	0	7	0
chr2	94876674	94876674	G	A	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.G667A:p.A223T,TEKT4:NM_144705:exon6:c.G1213A:p.A405T	.	426	179	915	2	0	919	0.719655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	.	.	0.0115815	0.0037	0.0032	0.0047	0.0156	0.0008	0.0021	0.0047	0.0045	0.0058783	153	26028	rs75603622	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.30375	T	0.267	0.22561	T	0.003	0.11197	B	0.013	0.16460	B	0.039834	0.24126	N	0.433987	0.997095	0.22793	N	3.49	0.92661	M	4.15	0.02815	T	-1.68	0.40082	N	0.141	0.14054	-0.9396	0.42679	T	0.013	0.04985	T	10	0.0041491687	0.00082	T	.	.	.	0.156	0.40720	.	.	0.117506650769	0.11410	0.2704892680538193	0.26961	0.0299475133996	0.03088	0.393358677626	0.24142	T	0.056124	0.30199	T	-0.161562	0.26520	T	-0.469849	0.25532	T	0.0468978844343634	0.04948	T	0.689731	0.29897	T	0.042698704	0.06523	0.104346365	0.25059	0.042698704	0.06523	0.104346365	0.25058	-4.749	0.33991	T	.	.	0.081	0.08129	B	.	.	1.062693	0.14447	11.02	0.91920144370954304	0.21243	0.00957	0.03676	N	AEFDGBI	0.022506	0.01133	N	-1.17567910300973	0.05369	0.2445992	-1.31751710428587	0.04204	0.1977864	0.0017749666691999	0.08872	0.646311	0.45356	0	0.626922	0.53725	0	0.478664	0.07449	1	0.699875	0.68795	0	.	.	2.43	-2.21	0.06581	0.036000	0.13706	2.580000	0.33410	-0.673000	0.04287	0.001000	0.13787	0.571000	0.25572	0.394000	0.26647	0.1368:0.0:0.6998:0.1633	6.926	0.23596	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.012588	0.025253	0.002717	0.011696	0.000000	0.000000	0.021341	0.018939	0.5	19917.1	303	chr2	94876674	.	G	A	19917.1	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-6.474;DP=2389;ExcessHet=14.2834;FS=1.269;MLEAC=7;MLEAF=0.5;MQ=55.95;MQRankSum=-19.98;QD=8.45;ReadPosRankSum=4.2;SOR=0.604	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:170,49:219:99:0|1:94876671_A_G:1546,0,6882:94876671	0	0	7	0
chr2	94876731	94876731	C	T	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C724T:p.R242C,TEKT4:NM_144705:exon6:c.C1270T:p.R424C	.	422	173	925	2	0	929	0.728627	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.0041459355799	.	0.000199681	0.0026	0.0055	0.0008	0.0029	0.0009	0.0031	0.0024	0.0009	0.0016136	42	26028	rs1052809	2.266e-05	4.721e-05	2.05e-05	2.484e-05	0.0002	1.616e-05	1.421e-05	7.131e-05	5.487e-05	5.977e-05	6.711e-05	0	0	0	0.0002	9.902e-06	8.287e-05	0.0001	6.572e-06	6.567e-06	0	1.345e-05	6.545e-05	0	0	.	.	0	0	6.545e-05	0	0	0	0	0	0	0	0.103	0.30097	T	0.066	0.44501	T	0.572	0.38625	P	0.148	0.34065	B	0.002019	0.37457	N	0.261531	0.999997	0.58761	D	1.775	0.45938	L	4.11	0.02916	T	-4.13	0.75139	D	0.316	0.35620	-0.8786	0.49872	T	0.010	0.03856	T	10	0.01365149	0.00289	T	0.004146	0.09931	T	0.132	0.35948	.	.	0.491455083755	0.48780	0.5777951626377072	0.57708	0.0586537782296	0.06507	0.432330518961	0.29528	T	0.138567	0.47212	T	-0.133279	0.30966	T	-0.429223	0.30023	T	0.0535928154404934	0.06120	T	0.627737	0.24333	T	0.19040447	0.40625	0.158895	0.37084	0.19040447	0.40624	0.158895	0.37084	-4.535	0.31344	T	.	.	0.086	0.10883	B	.	.	2.921119	0.38776	20.8	0.98416532006618407	0.41234	0.09068	0.14897	N	AEFDGBI	0.064399	0.12503	N	-0.384009387342546	0.26038	1.418045	-0.456280458516489	0.23371	1.274154	0.0109668901558148	0.12109	0.646311	0.45356	0	0.844039	0.99811	0	0.478664	0.07449	1	0.604944	0.38103	0	.	.	2.43	2.43	0.28797	1.541000	0.35732	0.966000	0.23025	0.302000	0.18967	0.091000	0.22601	0.000000	0.08366	0.392000	0.26603	0.0:1.0:0.0:0.0	10.548	0.44261	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.045317	0.136364	0.005435	0.035088	0.000000	0.043103	0.076220	0.030303	0.5	9635.83	294	chr2	94876731	.	C	T	9635.83	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-1.43;DP=2227;ExcessHet=14.2834;FS=4.237;MLEAC=7;MLEAF=0.5;MQ=56.87;MQRankSum=-19.16;QD=4.43;ReadPosRankSum=-0.606;SOR=1.099	GT:AD:DP:GQ:PL	0/1:147,41:188:99:1096,0,3631	0	0	7	0
chr2	94876737	94876737	C	A	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C730A:p.P244T,TEKT4:NM_144705:exon6:c.C1276A:p.P426T	.	420	623	478	1	0	480	0.2781	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.305	0.00856323149497	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	.	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.49	0.72568	M	4.16	0.02791	T	-6.15	0.90178	D	0.449	0.48689	-1.1193	0.02376	T	0.028	0.11926	T	10	0.86077964	0.85296	D	0.008563	0.22631	T	0.305	0.62620	0.82	0.93328	0.439763647824	0.43599	0.7402352279972402	0.73968	0.238822044954	0.26437	0.431803226471	0.29455	T	0.211342	0.57208	T	-0.00288391	0.51258	T	-0.241919	0.50610	T	0.997360169887543	0.91383	D	0.868613	0.57103	D	0.468639	0.65206	0.43668678	0.67113	0.468639	0.65207	0.43668678	0.67113	-9.492	0.70809	D	.	.	0.247	0.48188	B	.	.	3.384766	0.46838	22.4	0.99756532367682871	0.84694	0.76429	0.37483	D	AEFDGBI	0.183688	0.31101	N	0.284556175349996	0.55366	3.700636	0.149238450167121	0.47101	2.945506	0.878548229655452	0.25568	0.646311	0.45356	0	0.844039	0.99811	0	0.478664	0.07449	1	0.699875	0.68795	0	.	.	2.43	2.43	0.28797	3.367000	0.52075	5.126000	0.47622	0.302000	0.18967	1.000000	0.71638	1.000000	0.68203	0.409000	0.26983	0.0:1.0:0.0:0.0	10.548	0.44261	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3571	4870.11	291	chr2	94876737	.	C	A	4870.11	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-2.517;DP=1831;ExcessHet=4.7409;FS=2.809;MLEAC=5;MLEAF=0.357;MQ=56.76;MQRankSum=-15.54;QD=2.75;ReadPosRankSum=-2.853;SOR=0.993	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:156,29:185:99:0|1:94876737_C_A:707,0,6432:94876737	2	0	5	0
chr2	94876740	94876740	A	C	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.A733C:p.T245P,TEKT4:NM_144705:exon6:c.A1279C:p.T427P	.	420	617	484	1	0	486	0.282558	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.00171498663639	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.52492	D	0.114	0.36765	T	0.125	0.26866	B	0.085	0.29395	B	0.131368	0.18625	N	0.557409	0.999999	0.08975	N	1.955	0.52871	M	4.2	0.02689	T	-3.07	0.63207	D	0.235	0.26475	-0.9960	0.31028	T	0.012	0.04558	T	10	0.1880475	0.34342	T	0.001715	0.02856	T	0.095	0.27398	0.692	0.82938	0.242825505644	0.23883	0.760572030042999	0.76005	0.0377657102004	0.04010	0.42577329278	0.28630	T	0.133664	0.46448	T	-0.179838	0.23760	T	-0.496102	0.22753	T	0.267470479011536	0.23639	T	0.608739	0.23025	T	0.12824208	0.29987	0.113306135	0.27344	0.12824208	0.29987	0.113306135	0.27344	-6.544	0.50625	T	.	.	0.070	0.03552	B	.	.	1.347397	0.17547	13.23	0.9830799806719418	0.40116	0.00645	0.02815	N	AEFDGBI	0.062337	0.11976	N	-0.575656789009934	0.19685	1.032239	-0.641925779952209	0.18420	0.9839579	4.74237286387209E-4	0.07095	0.646311	0.45356	0	0.844039	0.99811	0	0.478664	0.07449	1	0.699875	0.68795	0	.	.	2.43	1.2	0.20181	-0.628000	0.05611	0.633000	0.20247	0.373000	0.20310	0.000000	0.06391	0.002000	0.18203	0.392000	0.26603	0.5413:0.283:0.1757:0.0	2.624	0.04627	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3571	4868.11	289	chr2	94876740	.	A	C	4868.11	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-1.23;DP=1808;ExcessHet=4.7409;FS=2.783;MLEAC=5;MLEAF=0.357;MQ=56.77;MQRankSum=-15.4;QD=2.79;ReadPosRankSum=-3.819;SOR=0.965	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:150,29:179:99:0|1:94876737_C_A:725,0,6203:94876737	2	0	5	0
chr2	95152724	95152724	C	G	exonic	ZNF514	.	nonsynonymous SNV	ZNF514:NM_001318005:exon4:c.G386C:p.G129A,ZNF514:NM_032788:exon4:c.G167C:p.G56A	.	420	1095	6	1	0	8	0.00363967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.0024547953876	.	0.000798722	0.0006	0	0.0002	0	0	0.0002	0.0033	0.0032	0.0005239	81	154602	rs150402017	0.0003	0.0003	0.0002	0.0004	0.0038	0.0003	0.0003	0.0033	0.0032	0.0002	6.708e-05	0	2.519e-05	0	0.0038	9.712e-05	0.0003	0.0037	0.0003	0.0003	0.0002	0.0003	0.0041	0.0002	0.0002	0.0027	0.0023	7.218e-05	0	0	0	0	0	0.0068	0.0002	0	0.0041	0.011	0.55530	D	0.076	0.42614	T	0.996	0.68779	D	0.992	0.80445	D	.	.	.	.	0.993668	0.23670	N	2.67	0.78151	M	5.48	0.00939	T	-4.25	0.76094	D	0.194	0.21319	-1.0655	0.10432	T	0.014	0.05608	T	9	0.008033723	0.00182	T	0.002455	0.04840	T	0.073	0.21317	.	.	0.529260826313	0.52574	0.0459931756812455	0.04543	0.194429881254	0.21783	0.249985530972	0.03766	T	0.196121	0.55240	T	-0.577589	0.00199	T	-0.604549	0.12431	T	0.152459502279626	0.17298	T	0.0153985	0.00087	T	0.27821246	0.50876	0.24464338	0.49935	0.27821246	0.50876	0.24464338	0.49934	-8.425	0.63931	D	.	.	0.293	0.52459	B	.;.	.;.	1.718054	0.21875	15.39	0.99375901566082558	0.61671	0.34949	0.25188	N	AEFBI	0.067182	0.13194	N	0.149185391558516	0.48774	3.085551	-0.0865050990825504	0.35948	2.085878	0.0298807620608008	0.13911	0.562547	0.31514	0	0.588066	0.40923	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	2.64	2.64	0.30504	0.199000	0.17037	0.337000	0.17343	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.176000	0.21171	0.0:1.0:0.0:0.0	8.852	0.34364	.	.	Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004532	0.000000	0.005435	0.011696	0.000000	0.000000	0.000000	0.007576	0.07143	787.49	35	chr2	95152724	.	C	G	787.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.994;DP=245;ExcessHet=0;FS=0.93;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.75;ReadPosRankSum=1.72;SOR=0.635	GT:AD:DP:GQ:PL	0/1:30,37:67:99:798,0,670	6	0	1	0
chr2	95855390	95855390	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5969G:p.N1990S	.	445	446	628	3	0	634	0.415465	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	.	.	.	0.4725	0.4791	0.4803	0.4672	0.4880	0.4733	0.4644	0.4563	0.0898263	2338	26028	rs5005871	6.166e-06	8.414e-05	8.18e-06	4.132e-06	1.162e-05	2.9e-06	2.1e-06	.	.	0	0	0	0	0.0002	0	0	0	1.162e-05	8.21e-05	0.0014	8.013e-05	8.417e-05	0.0001	4.669e-05	3.648e-05	4.891e-05	3.155e-05	0.0001	0	0.0001	0	0	0.0003	0	3.041e-05	0	0	0.015	0.52492	D	0.034	0.52727	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.56	0.13673	T	-1.08	0.28084	N	0.033	0.00882	-0.9453	0.41764	T	0.020	0.08266	T	7	0.002589792	0.00039	T	.	.	.	0.055	0.15663	.	.	.	.	0.012446412429317067	0.01203	.	.	.	.	.	0.01031	0.09320	T	-0.355653	0.04382	T	-0.748648	0.03539	T	0.0108537478151246	0.00155	T	0.411359	0.10665	T	0.03944852	0.05450	0.041137557	0.04607	0.03944852	0.05449	0.041137557	0.04607	-4.418	0.29800	T	.	.	0.294	0.52491	B	.	.	0.798647	0.11694	8.273	0.5612225942636786	0.05485	0.02449	0.06892	N	AEFI	0.055298	0.10127	N	-1.21497369849486	0.04782	0.2165626	-1.43546346583335	0.02904	0.1344849	0.00116623651718095	0.08293	0.656854	0.48797	0	0.653731	0.59785	0	0.565031	0.19037	0	0.699908	0.69081	0	.	.	2.64	-5.28	0.02543	0.547000	0.23007	-2.563000	0.03605	-0.638000	0.04459	0.451000	0.26573	0.000000	0.08366	0.008000	0.08271	0.3266:0.1273:0.3289:0.2173	0.771	0.00959	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4286	8284.69	141	chr2	95855390	.	T	C	8284.69	.	AC=6;AF=0.429;AN=14;BaseQRankSum=4.25;DP=1235;ExcessHet=8.2628;FS=29.175;MLEAC=6;MLEAF=0.429;MQ=55.71;MQRankSum=-10.91;QD=6.99;ReadPosRankSum=-6.806;SOR=2.3	GT:AD:DP:GQ:PL	0/1:82,27:109:99:579,0,2051	1	0	6	0
chr2	95855549	95855549	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5810G:p.N1937S	.	442	278	792	10	0	812	0.593567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	.	.	.	0.4955	0.4792	0.5	0.4994	0.4998	0.4950	0.4987	0.4997	0.0874443	2276	26028	rs5005869	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	6.573e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.296	0.14694	T	0.507	0.10930	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.62	0.12988	T	-0.23	0.10656	N	0.021	0.00339	-0.9299	0.44153	T	0.011	0.04088	T	7	0.0016410053	0.00020	T	.	.	.	0.027	0.05988	.	.	.	.	0.0144060030913769	0.01397	.	.	.	.	.	0.002	0.01223	T	-0.411715	0.01936	T	-0.829176	0.01277	T	0.00502627076001595	0.00054	T	0.545645	0.18668	T	0.016608926	0.00209	0.02213417	0.00245	0.016608926	0.00209	0.02213417	0.00245	-4.21	0.26896	T	.	.	0.100	0.17060	B	.	.	-0.269215	0.02755	0.369	0.23312518342213173	0.00979	0.00866	0.03436	N	AEFI	0.023348	0.01289	N	-1.09098549269488	0.06808	0.3144812	-1.2104876692623	0.05741	0.2743807	9.86009276359309E-6	0.01202	0.706548	0.73137	0	0.724815	0.89359	0	0.565031	0.19037	0	0.636168	0.56350	0	.	.	2.11	-0.838	0.10218	0.492000	0.22144	-6.933000	0.01270	0.312000	0.19173	0.073000	0.22155	0.000000	0.08366	0.002000	0.04165	0.0:0.3513:0.0:0.6487	6.069	0.19105	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	20786.1	211	chr2	95855549	.	T	C	20786.1	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-1.376;DP=1851;ExcessHet=14.2834;FS=10.642;MLEAC=7;MLEAF=0.5;MQ=44.24;MQRankSum=-11.95;QD=11.46;ReadPosRankSum=0.027;SOR=1.217	GT:AD:DP:GQ:PL	0/1:74,66:140:99:1444,0,1768	0	0	7	0
chr2	95855576	95855576	A	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.T5783C:p.I1928T	.	453	483	584	2	0	588	0.378378	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	.	.	.	0.0351	0.0714	0.0215	0.0369	0.0035	0.0411	0.0420	0.0134	0.0472952	1231	26028	rs5005868	0.0003	0.0003	0.0003	0.0003	0.0004	0.0003	0.0002	0.0003	0.0003	8.988e-05	0	0	0	0	0	0.0004	0.0001	0	0.0001	0.0001	0.0002	8.079e-05	0.0002	8.674e-05	7.264e-05	0.0001	9.902e-05	0.0001	0	0	0	0	0	0	0.0002	0	0	0.061	0.37118	T	0.076	0.42614	T	.	.	.	.	.	.	.	.	.	.	0.999854	0.20048	N	.	.	.	2.41	0.15492	T	-2.88	0.60507	D	0.111	0.09772	-1.0255	0.21919	T	0.039	0.16634	T	7	0.0018533468	0.00025	T	.	.	.	0.016	0.02506	.	.	.	.	0.019306205368593718	0.01884	.	.	.	.	.	0.00751	0.06912	T	-0.24663	0.14515	T	-0.592043	0.13489	T	0.0121704833066968	0.00195	T	0.355564	0.08068	T	0.13378952	0.31107	0.17544822	0.40011	0.13378952	0.31107	0.17544822	0.40010	-5.456	0.41455	T	.	.	0.137	0.29914	B	.	.	2.390189	0.30693	18.52	0.99376893328488414	0.61715	0.31313	0.24306	N	AEFI	0.047864	0.08107	N	-0.41657885139222	0.24888	1.347055	-0.520845466279587	0.21587	1.168515	1.17212494177188E-4	0.05269	0.706548	0.73137	0	0.724815	0.89359	0	0.565031	0.19037	0	0.636168	0.56350	0	.	.	2.11	2.11	0.26299	1.107000	0.30724	-0.057000	0.12472	0.351000	0.19951	0.797000	0.29682	0.000000	0.08366	0.192000	0.21661	1.0:0.0:0.0:0.0	8.115	0.30096	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4286	16523.5	188	chr2	95855576	.	A	G	16523.5	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-1.709;DP=1533;ExcessHet=8.2628;FS=22.634;MLEAC=6;MLEAF=0.429;MQ=45.71;MQRankSum=-11.53;QD=11.19;ReadPosRankSum=-3.191;SOR=1.751	GT:AD:DP:GQ:PL	0/1:75,50:125:99:1409,0,1913	1	0	6	0
chr2	95855586	95855586	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5773G:p.M1925V	.	447	884	189	2	0	193	0.0984192	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.000861707961223	.	.	0.0008	0.0001	0.0009	0.0002	0.0002	0.0014	0	0.0001	3.84e-05	1	26028	rs201192250	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	0.24758	T	0.137	0.33894	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.59	0.13317	T	-2.2	0.49519	N	0.124	0.11626	-0.9610	0.38993	T	0.019	0.07800	T	7	0.011997491	0.00260	T	8.62E-4	0.00755	T	0.035	0.08770	.	.	0.0806252709748	0.07271	0.015437605054057783	0.01499	.	.	.	.	.	0.004928	0.04354	T	-0.342361	0.05226	T	-0.729554	0.04347	T	0.0291781713714631	0.01865	T	0.515548	0.16619	T	0.11939599	0.28113	0.13833767	0.33041	0.11939599	0.28113	0.13833767	0.33040	-3.711	0.19481	T	.	.	0.227	0.45954	B	.	.	0.618436	0.09867	6.630	0.39056500088029883	0.02672	0.17497	0.19862	N	AEFI	0.042474	0.06596	N	-0.697976344310311	0.16079	0.8160669	-0.828039099870389	0.13816	0.7187932	1.99158050687805E-5	0.02871	0.706548	0.73137	0	0.724815	0.89359	0	0.565031	0.19037	0	0.636168	0.56350	0	.	.	2.11	-2.48	0.06052	0.550000	0.23052	-0.005000	0.13145	0.312000	0.19173	0.994000	0.38300	0.000000	0.08366	0.117000	0.19042	0.3728:0.0:0.19:0.4372	3.442	0.07037	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3571	3141.13	173	chr2	95855586	.	T	C	3141.13	.	AC=5;AF=0.357;AN=14;BaseQRankSum=1.84;DP=1410;ExcessHet=4.7409;FS=16.271;MLEAC=5;MLEAF=0.357;MQ=46.63;MQRankSum=-6.422;QD=2.72;ReadPosRankSum=-1.556;SOR=1.956	GT:AD:DP:GQ:PL	0/1:92,21:113:99:357,0,3536	2	0	5	0
chr2	95855588	95855588	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5771G:p.Q1924R	.	449	591	480	2	0	484	0.290516	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	.	.	.	0.0306	0.0658	0.0188	0.0337	0.0028	0.0359	0.0324	0.0111	0.0379591	988	26028	rs5005867	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	0.22833	T	0.311	0.19660	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.4	0.15608	T	-2.4	0.52776	N	0.054	0.02559	-0.9776	0.35548	T	0.023	0.09968	T	7	0.004524857	0.00093	T	.	.	.	0.035	0.08770	.	.	.	.	0.014319341971499302	0.01388	.	.	.	.	.	0.034191	0.23222	T	-0.342862	0.05192	T	-0.730274	0.04316	T	0.0218009842485075	0.00887	T	0.374863	0.08927	T	0.052712794	0.09870	0.11261669	0.27173	0.052712794	0.09870	0.11261669	0.27172	-5.986	0.46163	T	.	.	0.14	0.30686	B	.	.	1.453026	0.18743	13.90	0.88078949201552847	0.17700	0.32438	0.24585	N	AEFI	0.045481	0.07443	N	-0.542064366665841	0.20732	1.095167	-0.636773118221108	0.18551	0.9915041	9.62839158373236E-6	0.01202	0.706548	0.73137	0	0.724815	0.89359	0	0.565031	0.19037	0	0.636168	0.56350	0	.	.	2.11	0.82	0.17932	2.106000	0.41459	0.119000	0.14890	-0.667000	0.04321	1.000000	0.71638	0.000000	0.08366	0.084000	0.17470	0.0:0.1714:0.2923:0.5363	2.541	0.04438	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4286	12615.5	167	chr2	95855588	.	T	C	12615.5	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-1.998;DP=1397;ExcessHet=8.2628;FS=30.104;MLEAC=6;MLEAF=0.429;MQ=46.88;MQRankSum=-10.46;QD=9.41;ReadPosRankSum=-4.329;SOR=2.057	GT:AD:DP:GQ:PL	0/1:75,34:109:99:973,0,2064	1	0	6	0
chr2	95859895	95859895	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.A4960G:p.T1654A	.	951	467	84	20	0	124	0.117202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	.	.	.	0.4444	0.4790	0.4373	0.4517	0.4253	0.4197	0.4345	0.4715	0.0150223	391	26028	rs75198192	4.293e-06	9.85e-05	5.648e-06	2.901e-06	2.806e-05	1.54e-06	1.02e-06	.	.	0	2.806e-05	0	0	4.058e-05	0	0	5.178e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.35165	T	0.222	0.25748	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999981	0.18198	N	.	.	.	2.33	0.16492	T	-0.27	0.11366	N	0.03	0.00717	-0.9918	0.32141	T	0.020	0.08593	T	9	0.0021876395	0.00032	T	.	.	.	0.035	0.08770	.	.	.	.	0.004573925157677656	0.00430	.	.	0.524144649506	0.42211	T	0.007589	0.06987	T	-0.275691	0.11129	T	-0.633787	0.10130	T	0.00243692789656227	0.00025	T	0.119888	0.00926	T	0.026656736	0.01750	0.04326469	0.05342	0.026656736	0.01750	0.04326469	0.05342	-4.496	0.30836	T	.	.	0.118	0.24260	B	.	.	1.595165	0.20400	14.73	0.67616785214816144	0.08408	0.26935	0.23135	N	AEFI	0.048105	0.08173	N	-0.927352117069161	0.10206	0.4865986	-0.909991846583639	0.11858	0.6066753	7.95608252575671E-5	0.04552	0.632932	0.41330	0	0.666794	0.63253	0	0.657636	0.52715	0	0.755437	0.99637	0	.	.	1.85	1.85	0.24418	0.945000	0.28654	2.286000	0.31928	-0.387000	0.05364	0.808000	0.29825	0.078000	0.22336	0.001000	0.02609	0.0:0.0:0.0:1.0	7.648	0.27501	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	1478.13	62	chr2	95859895	.	T	C	1478.13	.	AC=7;AF=0.5;AN=14;BaseQRankSum=0.162;DP=395;ExcessHet=14.2834;FS=0;MLEAC=7;MLEAF=0.5;MQ=58.04;MQRankSum=-1.11;QD=3.84;ReadPosRankSum=0.74;SOR=0.678	GT:AD:DP:GQ:PL	0/1:29,7:36:99:186,0,1197	0	0	7	0
chr2	95859969	95859969	-	T	exonic	ANKRD36C	.	frameshift insertion	ANKRD36C:NM_001310154:exon82:c.4885_4886insA:p.L1629Hfs*4	.	952	362	155	53	0	261	0.264975	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4228	0.4631	0.4656	0.4778	0.3159	0.4147	0.4099	0.4349	0.0494083	1286	26028	rs111957693	5.008e-06	5.814e-05	5.648e-06	4.351e-06	.	2.08e-06	1.34e-06	.	.	0	0	0	0	0.0001	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	5808.1	86	chr2	95859969	.	A	AT	5808.1	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-0.067;DP=584;ExcessHet=14.2834;FS=4.534;MLEAC=7;MLEAF=0.5;MQ=59;MQRankSum=-6.302;QD=10.15;ReadPosRankSum=-0.469;SOR=0.952	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:39,18:57:99:0|1:95859969_A_AT:618,0,1563:95859969	0	0	7	0
chr2	95859970	95859970	G	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.C4885A:p.L1629M	.	957	355	157	53	0	263	0.270298	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	.	.	.	0.4545	0.4802	0.4743	0.4840	0.3659	0.4484	0.4515	0.4666	0.0009221	24	26028	rs77057279	9.318e-06	0.0001	7.073e-06	1.162e-05	.	5.2e-06	4.01e-06	.	.	0	0	0	0	0.0003	0	0	0	0	0	2.631e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.911	0.02361	T	0.243	0.24193	T	0.053	0.22573	B	0.021	0.19346	B	.	.	.	.	0.994063	0.23594	N	.	.	.	2.42	0.15376	T	1.44	0.00794	N	0.079	0.05414	-0.9807	0.34840	T	0.008	0.02801	T	9	0.0015536547	0.00018	T	.	.	.	0.028	0.06331	.	.	.	.	0.0034729447233706272	0.00324	.	.	0.598522663116	0.52695	T	0.002815	0.02207	T	-0.296982	0.08946	T	-0.664371	0.07975	T	0.000298728606434334	0.00002	T	0.227477	0.03026	T	0.060971648	0.12573	0.043196924	0.05321	0.060971648	0.12573	0.043196924	0.05321	-3.51	0.16572	T	.	.	0.079	0.07224	B	.	.	-0.617261	0.01525	0.098	0.057558437599456599	0.00015	0.02138	0.06301	N	AEFI	0.027961	0.02376	N	-1.81372414748207	0.00512	0.02205084	-1.77419214230889	0.00845	0.0377715	9.60209616443048E-5	0.04910	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	-3.7	0.04150	-1.387000	0.02641	-5.763000	0.01604	-0.394000	0.05329	0.245000	0.24799	0.000000	0.08366	0.008000	0.08271	0.2827:0.0:0.3453:0.372	3.712	0.07953	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	5886.14	87	chr2	95859970	.	G	T	5886.14	.	AC=7;AF=0.5;AN=14;BaseQRankSum=0.463;DP=588;ExcessHet=14.2834;FS=4.534;MLEAC=7;MLEAF=0.5;MQ=58.97;MQRankSum=-6.346;QD=10.22;ReadPosRankSum=-0.399;SOR=0.978	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:39,18:57:99:0|1:95859969_A_AT:618,0,1563:95859969	0	0	7	0
chr2	95859975	95859975	C	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.G4880A:p.R1627Q	.	957	354	158	53	0	264	0.271605	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	.	.	.	0.4301	0.4670	0.4743	0.4733	0.3036	0.4236	0.4062	0.4476	0.00073	19	26028	rs77757712	2.22e-05	6.841e-05	2.827e-05	1.597e-05	8.413e-05	1.591e-05	1.386e-05	2.23e-05	1.218e-05	3.172e-05	8.413e-05	0	0	6.31e-05	0	1.855e-05	1.726e-05	3.789e-05	1.316e-05	1.971e-05	1.286e-05	1.348e-05	6.563e-05	2.19e-06	8.2e-07	.	.	0	0	6.563e-05	0	0	0	0	1.471e-05	0	0	0.162	0.23541	T	0.485	0.11725	T	0.055	0.22733	B	0.007	0.12992	B	.	.	.	.	0.999977	0.18612	N	.	.	.	2.42	0.15376	T	-0.1	0.08495	N	0.04	0.01347	-0.9474	0.41414	T	0.010	0.03492	T	9	0.0016048849	0.00019	T	.	.	.	0.036	0.09122	.	.	.	.	0.007547077727271438	0.00720	.	.	0.508793115616	0.40052	T	0.002443	0.01836	T	-0.329346	0.06161	T	-0.710859	0.05250	T	0.00527709899755481	0.00057	T	0.480052	0.14488	T	0.032344773	0.03241	0.03586384	0.02919	0.032344773	0.03241	0.03586384	0.02918	-4.415	0.29759	T	.	.	0.069	0.03231	B	.	.	0.983069	0.13607	10.14	0.66913885358475289	0.08199	0.01513	0.05000	N	AEFI	0.023495	0.01318	N	-1.4910599935179	0.01913	0.08394092	-1.36789013472358	0.03599	0.1682304	1.02737162787131E-5	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	0.634	0.16889	0.827000	0.27075	-0.579000	0.08386	-0.398000	0.05312	0.991000	0.37257	0.000000	0.08366	0.005000	0.06747	0.0:0.1617:0.0:0.8383	5.605	0.16657	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	5848.14	86	chr2	95859975	.	C	T	5848.14	.	AC=7;AF=0.5;AN=14;BaseQRankSum=0.675;DP=581;ExcessHet=14.2834;FS=3.611;MLEAC=7;MLEAF=0.5;MQ=58.94;MQRankSum=-6.341;QD=10.17;ReadPosRankSum=-0.758;SOR=1.023	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:39,18:57:99:0|1:95859969_A_AT:638,0,1563:95859969	0	0	7	0
chr2	95859988	95859988	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.A4867G:p.R1623G	.	946	377	143	56	0	255	0.252725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	.	.	.	0.3985	0.4181	0.4615	0.4624	0.2601	0.3839	0.3829	0.4293	0.0005763	15	26028	rs78585559	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.44029	D	0.037	0.51737	D	0.618	0.39878	P	0.296	0.40883	B	.	.	.	.	1	0.08975	P	.	.	.	2.35	0.16217	T	-2.17	0.49018	N	0.036	0.01068	-1.0403	0.17223	T	0.022	0.09284	T	8	0.0021658242	0.00031	T	.	.	.	0.031	0.07369	.	.	.	.	0.01648333609809802	0.01603	.	.	0.464800566435	0.33968	T	0.014368	0.12243	T	-0.283116	0.10340	T	-0.644453	0.09348	T	0.0103390599998185	0.00141	T	0.690331	0.29972	T	0.11867667	0.27957	0.10622412	0.25550	0.11867667	0.27957	0.10622412	0.25549	-4.221	0.27055	T	.	.	0.167	0.36712	B	.	.	1.395340	0.18086	13.54	0.66348352263891242	0.08032	0.01091	0.04015	N	AEFI	0.037962	0.05300	N	-0.829849498643622	0.12552	0.6125249	-0.95288899799542	0.10856	0.5494909	1.69149918813486E-5	0.02871	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	1.85	0.24418	-0.401000	0.07293	-0.372000	0.09600	0.443000	0.21123	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.2013:0.0:0.7987	3.593	0.07545	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	4929.98	80	chr2	95859988	.	T	C	4929.98	.	AC=7;AF=0.5;AN=14;BaseQRankSum=0.295;DP=563;ExcessHet=14.2834;FS=2.86;MLEAC=7;MLEAF=0.5;MQ=58.91;MQRankSum=-6.506;QD=9;ReadPosRankSum=-0.371;SOR=0.943	GT:AD:DP:GQ:PL	0/1:36,17:53:99:606,0,914	0	0	7	0
chr2	95860002	95860002	T	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.A4853T:p.H1618L	.	945	422	104	51	0	206	0.19619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	.	.	.	0.2918	0.3574	0.4353	0.4062	0.1258	0.3207	0.2719	0.2565	0.0003842	10	26028	rs76379993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.73	0.05165	T	0.898	0.49442	P	0.775	0.57058	P	.	.	.	.	1	0.08975	P	.	.	.	2.2	0.18570	T	-7.35	0.94620	D	0.157	0.16308	-0.9983	0.30395	T	0.066	0.27087	T	8	0.0024163425	0.00036	T	.	.	.	0.098	0.28162	.	.	.	.	0.011885642134936694	0.01148	.	.	0.603820681572	0.53443	T	0.17093	0.51885	T	-0.130986	0.31337	T	-0.425929	0.30399	T	0.0896707485037565	0.11179	T	0.667933	0.27701	T	0.5114563	0.67764	0.4059057	0.64978	0.5114563	0.67765	0.4059057	0.64978	-5.063	0.37516	T	.	.	0.223	0.45409	B	.	.	1.545032	0.19810	14.45	0.68803435199818186	0.08772	0.02181	0.06385	N	AEFI	0.047683	0.08056	N	-0.541266882709805	0.20758	1.096673	-0.816850501380551	0.14087	0.7342697	9.81280304122205E-6	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	-0.873	0.10096	1.014000	0.29553	0.760000	0.21307	0.443000	0.21123	0.026000	0.20160	0.002000	0.18203	0.026000	0.12556	0.2602:0.3442:0.0:0.3955	2.065	0.03383	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	2934.14	77	chr2	95860002	.	T	A	2934.14	.	AC=7;AF=0.5;AN=14;BaseQRankSum=1.03;DP=541;ExcessHet=14.2834;FS=3.176;MLEAC=7;MLEAF=0.5;MQ=58.85;MQRankSum=-5.515;QD=5.56;ReadPosRankSum=-0.983;SOR=1.084	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:36,16:52:99:0|1:95860002_T_A:564,0,1412:95860002	0	0	7	0
chr2	95860007	95860007	A	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.T4848A:p.D1616E	.	965	351	153	53	0	259	0.269511	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	.	.	.	0.3716	0.3968	0.4638	0.4468	0.1996	0.3624	0.3348	0.3997	0.000461	12	26028	rs77658288	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	0.42199	D	0.887	0.03161	T	0.886	0.48745	P	0.685	0.53610	P	.	.	.	.	1	0.08975	P	.	.	.	2.36	0.16089	T	0.87	0.01688	N	0.018	0.00252	-1.0311	0.20099	T	0.037	0.16116	T	8	0.0017204583	0.00022	T	.	.	.	0.058	0.16647	0.102	0.01589	.	.	0.0016336715894167176	0.00151	.	.	0.627778291702	0.56830	T	0.00182	0.01242	T	-0.339353	0.05432	T	-0.725233	0.04547	T	0.0127801602154166	0.00217	T	0.50325	0.15827	T	0.05346143	0.10121	0.066788726	0.13731	0.05346143	0.10121	0.066788726	0.13730	-4.052	0.24579	T	.	.	0.276	0.50970	B	.	.	0.679021	0.10477	7.192	0.92075444711269228	0.21422	0.00300	0.01598	N	AEFI	0.017840	0.00496	N	-0.631580650889932	0.18000	0.9310604	-0.811362641984672	0.14221	0.7419123	9.14715249298931E-6	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	0.608	0.16746	-0.101000	0.10943	-4.154000	0.02312	0.333000	0.19617	0.036000	0.20778	0.000000	0.08366	0.028000	0.12845	0.5619:0.0:0.0:0.4381	4.768	0.12514	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	4227.14	75	chr2	95860007	.	A	T	4227.14	.	AC=7;AF=0.5;AN=14;BaseQRankSum=1.06;DP=520;ExcessHet=14.2834;FS=3.946;MLEAC=7;MLEAF=0.5;MQ=58.83;MQRankSum=-5.622;QD=8.26;ReadPosRankSum=-0.949;SOR=1.107	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:34,13:47:99:0|1:95860002_T_A:444,0,1378:95860002	0	0	7	0
chr2	95860020	95860020	G	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.C4835T:p.T1612I	.	975	346	149	52	0	253	0.267725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	.	.	.	0.3429	0.4093	0.4357	0.4212	0.1584	0.3445	0.2982	0.3516	0.0003842	10	26028	rs78780931	7.168e-07	5.473e-06	1.415e-06	0	9.285e-07	0	0	.	.	0	0	0	0	0	0	9.285e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999979	0.18612	P	.	.	.	2.38	0.15843	T	3.02	0.00138	N	0.054	0.02559	-0.9370	0.43088	T	0.010	0.03627	T	8	0.0017494261	0.00022	T	.	.	.	0.071	0.20720	.	.	.	.	0.0033875092255602627	0.00316	.	.	0.597990691662	0.52621	T	2.31E-4	0.00048	T	-0.282657	0.10387	T	-0.643793	0.09394	T	0.00465201252591891	0.00050	T	0.257674	0.04066	T	0.036191136	0.04406	0.044979855	0.05950	0.036191136	0.04405	0.044979855	0.05949	-0.577	0.00632	T	.	.	0.124	0.26042	B	.	.	0.379084	0.07510	4.156	0.096937678722497284	0.00105	0.00352	0.01813	N	AEFI	0.013252	0.00170	N	-1.41969246255212	0.02466	0.1089284	-1.29164163050699	0.04543	0.2145151	1.02751695127801E-5	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	0.635	0.16895	2.080000	0.41211	-0.435000	0.09196	-1.105000	0.01501	0.995000	0.38783	0.000000	0.08366	0.000000	0.00833	0.8383:0.0:0.1617:0.0	5.605	0.16657	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	3569.07	69	chr2	95860020	.	G	A	3569.07	.	AC=7;AF=0.5;AN=14;BaseQRankSum=0.603;DP=481;ExcessHet=14.2834;FS=5.226;MLEAC=6;MLEAF=0.429;MQ=58.68;MQRankSum=-5.391;QD=7.56;ReadPosRankSum=-1.017;SOR=1.106	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:33,11:44:99:0|1:95860020_G_A:363,0,1353:95860020	0	0	7	0
chr2	95860023	95860023	A	C	exonic	ANKRD36C	.	stopgain	ANKRD36C:NM_001310154:exon82:c.T4832G:p.L1611X	.	975	348	147	52	0	251	0.265048	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3459	0.4102	0.4378	0.4239	0.1587	0.3478	0.2957	0.3558	0.0004226	11	26028	rs74941794	0	6.841e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.64576e-15	0.58761	P	.	.	.	.	.	.	.	.	.	0.039	0.01274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.464733	0.93127	D	0.429781	0.93041	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	5.440231	0.90928	32	0.96148246009950666	0.28859	0.36954	0.25651	N	AEFI	0.088588	0.17958	N	-0.131946649004641	0.36007	2.075519	-0.471627380579264	0.22940	1.248476	9.52799824835323E-6	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	-0.698	0.10713	0.445000	0.21392	-0.434000	0.09203	-1.250000	0.01303	0.993000	0.37899	0.000000	0.08366	0.002000	0.04165	0.6458:0.0:0.3542:0.0	5.748	0.17400	256	0.89942	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4286	3360.29	69	chr2	95860023	.	A	C	3360.29	.	AC=6;AF=0.429;AN=14;BaseQRankSum=1.53;DP=471;ExcessHet=8.2628;FS=5.387;MLEAC=6;MLEAF=0.429;MQ=58.66;MQRankSum=-6.123;QD=7.23;ReadPosRankSum=-1.05;SOR=1.183	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:33,11:44:99:0|1:95860020_G_A:363,0,1353:95860020	1	0	6	0
chr2	95860046	95860046	C	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.G4809T:p.K1603N	.	996	348	132	46	0	224	0.243478	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	.	.	.	0.2995	0.4068	0.4155	0.3993	0.0859	0.3214	0.2411	0.2818	0.0869064	2262	26028	rs79908880	2.159e-06	4.789e-06	1.421e-06	2.916e-06	3.19e-05	5.8e-07	1.6e-07	3.1e-07	1.2e-07	3.19e-05	0	0	0	0	0	1.863e-06	0	0	1.972e-05	1.97e-05	2.57e-05	1.346e-05	2.94e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	2.414e-05	0	0	0	0	0	0	2.94e-05	0	0	0.767	0.03412	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	P	.	.	.	2.33	0.16492	T	1.87	0.00472	N	0.043	0.01577	-0.9644	0.38330	T	0.008	0.02842	T	8	0.0017981231	0.00024	T	.	.	.	0.027	0.05988	0.388	0.40951	.	.	0.009782736317217211	0.00940	.	.	0.538346886635	0.44213	T	0.002324	0.01720	T	-0.380822	0.03079	T	-0.784801	0.02311	T	0.00124196999210505	0.00012	T	0.263374	0.04265	T	0.04313465	0.06669	0.036235157	0.03030	0.04313465	0.06669	0.036235157	0.03030	-0.766	0.00774	T	.	.	0.068	0.02639	B	.	.	-0.084979	0.03731	0.770	0.10447506845337422	0.00132	0.00336	0.01748	N	AEFI	0.012014	0.00120	N	-2.28437407882715	0.00049	0.002118662	-2.21407410585182	0.00104	0.004576006	2.08611004689468E-5	0.02871	0.632932	0.41330	0	0.666794	0.63253	0	0.657636	0.52715	0	0.755437	0.99637	0	.	.	1.85	-2.51	0.05996	1.202000	0.31878	0.062000	0.14145	-1.184000	0.01383	0.735000	0.28974	0.000000	0.08366	0.000000	0.00833	0.4851:0.195:0.1314:0.1885	0.839	0.01073	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	2164.34	48	chr2	95860046	.	C	A	2164.34	.	AC=6;AF=0.5;AN=12;BaseQRankSum=0.436;DP=347;ExcessHet=11.5949;FS=9.343;MLEAC=7;MLEAF=0.583;MQ=58.29;MQRankSum=-6.579;QD=6.33;ReadPosRankSum=-0.695;SOR=1.274	GT:AD:DP:GQ:PL	0/1:25,6:31:99:177,0,680	0	0	6	1
chr2	95927222	95927222	-	AT	exonic	ANKRD36C	.	frameshift insertion	ANKRD36C:NM_001310154:exon28:c.1930_1931insAT:p.S644Yfs*24	.	585	748	183	6	0	195	0.115316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.0015	0.0011	0.0019	0.0005	0.0013	0	0.0007	0.0009605	25	26028	rs745741068	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	5378.45	93	chr2	95927222	.	G	GAT	5378.45	.	AC=6;AF=0.429;AN=14;BaseQRankSum=3.55;DP=740;ExcessHet=8.2628;FS=47.786;MLEAC=6;MLEAF=0.429;MQ=54.26;MQRankSum=-8.987;QD=7.46;ReadPosRankSum=-3.489;SOR=3.955	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:43,14:57:99:0|1:95927222_G_GAT:458,0,1763:95927222	1	0	6	0
chr2	95927227	95927228	TT	-	exonic	ANKRD36C	.	frameshift deletion	ANKRD36C:NM_001310154:exon28:c.1925_1926del:p.Q642Pfs*18	.	630	694	193	5	0	203	0.127593	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.0015	0.0011	0.0019	0.0005	0.0013	0	0.0007	0.0009605	25	26028	rs772059065	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	7647.22	111	chr2	95927226	.	GTT	G	7647.22	.	AC=6;AF=0.5;AN=12;BaseQRankSum=2.98;DP=834;ExcessHet=11.5949;FS=15.377;MLEAC=6;MLEAF=0.5;MQ=54.17;MQRankSum=-8.81;QD=9.31;ReadPosRankSum=-4.258;SOR=1.825	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:46,22:68:99:0|1:95927222_G_GAT:785,0,1865:95927222	0	0	6	1
chr2	95927234	95927234	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon28:c.A1919G:p.E640G	.	638	673	206	5	0	216	0.138284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	0.00618498349042	.	.	0.0012	0.0016	0.0011	0.0019	0.0005	0.0013	0	0.0007	3.84e-05	1	26028	rs758839836	6.856e-07	6.84e-07	1.364e-06	0	9.007e-07	0	0	.	.	0	0	0	0	0	0	9.007e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.114	0.36765	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.11	0.77466	T	-0.39	0.13611	N	0.176	0.18920	-0.5261	0.67688	T	0.427	0.77022	T	6	0.03557104	0.01812	T	0.006185	0.16200	T	0.149	0.39377	.	.	0.42989457901	0.42608	0.007308549639332476	0.00696	.	.	.	.	.	0.003258	0.02667	T	-0.0875605	0.38480	T	-0.363551	0.37640	T	0.0366356248361039	0.03091	T	0.168983	0.05631	T	0.062684655	0.13118	0.16541363	0.38267	0.062684655	0.13117	0.16541363	0.38267	-4.184	0.26519	T	.	.	0.130	0.27998	B	.;.	.;.	2.279132	0.29141	18.03	0.9497533031407277	0.25908	0.01715	0.05438	N	AEFBI	0.033788	0.04074	N	-0.603271583609637	0.18846	0.9816864	-0.856632057968517	0.13128	0.6793434	1.06943366512053E-5	0.01202	0.475973	0.10046	0	0.601575	0.49859	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	0.578	0.578	0.16575	1.624000	0.36629	-0.363000	0.09661	0.319000	0.19345	0.008000	0.17931	0.000000	0.08366	0.003000	0.05239	.	.	.	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	9881.26	117	chr2	95927234	.	T	C	9881.26	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.882;DP=933;ExcessHet=11.5949;FS=9.538;MLEAC=6;MLEAF=0.5;MQ=53.98;MQRankSum=-10.25;QD=10.79;ReadPosRankSum=-4.892;SOR=1.331	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:50,26:76:99:0|1:95927222_G_GAT:941,0,2021:95927222	0	0	6	1
chr2	95927252	95927252	A	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon28:c.T1901C:p.I634T	.	674	623	216	9	0	234	0.158108	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.194	.	.	.	0.0825	0.1113	0.0839	0.1182	0.1114	0.0793	0.0608	0.0544	3.84e-05	1	26028	rs111976783	2.057e-06	2.052e-06	2.729e-06	1.378e-06	6.728e-05	5.5e-07	1.5e-07	1.784e-05	8.95e-06	0	6.728e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.27194	T	0.194	0.28120	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.08	0.77078	T	-0.99	0.26200	N	0.069	0.17278	-0.8026	0.54991	T	0.326	0.69410	T	6	0.0039491355	0.00076	T	.	.	.	0.194	0.47447	.	.	.	.	0.0049901546743311475	0.00471	.	.	.	.	.	0.003965	0.03373	T	-0.0895306	0.38154	T	-0.366381	0.37311	T	0.00782888568937778	0.00092	T	0.441356	0.12522	T	0.056561366	0.11145	0.12979923	0.31201	0.056561366	0.11144	0.12979923	0.31200	-5.925	0.50163	T	.	.	0.180	0.48715	B	.;.	.;.	1.251398	0.16483	12.57	0.92565402419728915	0.22018	0.00377	0.01912	N	AEFBI	0.031745	0.03455	N	-0.892394221719867	0.11022	0.5297326	-1.14952198102138	0.06776	0.3273419	1.22801436175958E-5	0.02871	0.475973	0.10046	0	0.601575	0.49859	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	0.578	-1.16	0.09181	0.550000	0.23052	-1.428000	0.05463	0.359000	0.20063	0.011000	0.18532	0.000000	0.08366	0.036000	0.13842	.	.	.	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	17795.3	150	chr2	95927252	.	A	G	17795.3	.	AC=6;AF=0.5;AN=12;BaseQRankSum=0.09;DP=1238;ExcessHet=8.2628;FS=0.542;MLEAC=6;MLEAF=0.5;MQ=53.07;MQRankSum=-13.03;QD=14.62;ReadPosRankSum=-4.252;SOR=0.744	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:65,40:105:99:0|1:95927222_G_GAT:1484,0,2609:95927222	0	0	6	1
chr2	95927268	95927268	C	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon28:c.G1885T:p.D629Y	.	676	613	224	9	0	242	0.16485	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.333	.	.	.	0.0990	0.1443	0.0896	0.1297	0.1231	0.0957	0.0823	0.0698	0.0779227	12047	154602	rs79307257	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.596e-06	6.571e-06	0	1.351e-05	1.477e-05	0	0	.	.	0	0	0	0	0	0	0	1.477e-05	0	0	0.001	0.78490	D	0.026	0.72224	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.1	0.77336	T	-1.9	0.44284	N	0.173	0.51315	-0.4874	0.69100	T	0.446	0.78240	T	6	0.0048143566	0.00102	T	.	.	.	0.333	0.65522	.	.	.	.	0.012629181598714094	0.01221	.	.	.	.	.	0.007056	0.06479	T	-0.00641558	0.50765	T	-0.246992	0.50114	T	0.852545201778412	0.50387	D	0.59994	0.27277	T	0.11685397	0.27556	0.18900135	0.42222	0.11685397	0.27555	0.18900135	0.42221	-8.156	0.62848	D	.	.	0.178	0.50389	B	.;.	.;.	2.735108	0.35810	20.0	0.94629422228171811	0.25216	0.01477	0.04919	N	AEFBI	0.029319	0.02744	N	-0.591855003156469	0.19190	1.00245	-0.847697327138236	0.13343	0.6916549	1.13024900829832E-5	0.02871	0.475973	0.10046	0	0.601575	0.49859	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	0.578	0.578	0.16575	0.534000	0.22807	0.568000	0.19578	0.291000	0.18778	0.021000	0.19753	0.000000	0.08366	0.005000	0.06747	.	.	.	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	24657.3	182	chr2	95927268	.	C	A	24657.3	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-3.823;DP=1504;ExcessHet=8.2628;FS=3.23;MLEAC=6;MLEAF=0.5;MQ=52.22;MQRankSum=-14.46;QD=16.66;ReadPosRankSum=-2.383;SOR=0.5	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:79,62:141:99:0|1:95927222_G_GAT:2264,0,3125:95927222	0	0	6	1
chr2	95927277	95927277	C	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon28:c.G1876A:p.D626N	.	672	616	225	9	0	243	0.164746	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.172	.	.	.	0.0982	0.1425	0.0884	0.1290	0.1219	0.0951	0.0815	0.0693	0.0779679	12054	154602	rs75189823	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.023	0.57104	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	P	.	.	.	-1.07	0.76948	T	-0.32	0.12283	N	0.045	0.10626	-0.0304	0.81622	T	0.463	0.79190	T	5	0.0036658943	0.00067	T	.	.	.	0.172	0.43662	.	.	.	.	0.0029834670744068	0.00278	.	.	.	.	.	0.001745	0.01167	T	-0.214699	0.18721	T	-0.546177	0.17695	T	0.0182863330978625	0.00547	T	0.726827	0.34112	T	0.056939475	0.11268	0.071558535	0.15336	0.056939475	0.11268	0.071558535	0.15336	-7.104	0.55237	T	.	.	0.131	0.35560	B	.;.	.;.	2.171628	0.27671	17.54	0.99663125085786775	0.78074	0.02072	0.06171	N	AEFBI	0.036161	0.04774	N	-0.595262529696858	0.19088	0.996275	-0.85090525598683	0.13266	0.6872205	1.13024900829832E-5	0.02871	0.475973	0.10046	0	0.601575	0.49859	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	0.578	0.578	0.16575	0.528000	0.22711	-1.180000	0.06099	0.291000	0.18778	0.002000	0.15269	0.000000	0.08366	0.003000	0.05239	.	.	.	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	25059.3	185	chr2	95927277	.	C	T	25059.3	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-4.406;DP=1568;ExcessHet=8.2628;FS=3.217;MLEAC=6;MLEAF=0.5;MQ=52.16;MQRankSum=-14.78;QD=16.42;ReadPosRankSum=-0.832;SOR=0.485	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:80,63:143:99:0|1:95927222_G_GAT:2303,0,3133:95927222	0	0	6	1
chr2	95929092	95929092	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.A1817G:p.E606G	.	442	885	194	1	0	196	0.0996948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197	.	.	.	0.0459	0.0589	0.0223	0.0330	0.0459	0.0434	0.0437	0.0722	0.0179806	468	26028	rs76434426	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.12	0.48855	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	P	.	.	.	-1.41	0.80560	T	-0.78	0.21644	N	0.056	0.10626	-0.3240	0.74310	T	0.401	0.75223	T	5	0.0049548745	0.00106	T	.	.	.	0.197	0.47942	.	.	.	.	0.0054717690626164255	0.00517	.	.	.	.	.	0.005311	0.04761	T	-0.0584766	0.43144	T	-0.321774	0.42379	T	0.00563426744630397	0.00061	T	0.377662	0.09460	T	0.056738406	0.11204	0.0661094	0.13496	0.056738406	0.11203	0.0661094	0.13496	-3.88	0.22002	T	.	.	0.122	0.31279	B	.;.	.;.	2.425270	0.31191	18.67	0.9961510765788425	0.75052	0.01924	0.05874	N	AEFI	0.033909	0.04109	N	-0.600821869982756	0.18921	0.9861679	-0.827596025984616	0.13828	0.7194133	1.26041081260552E-5	0.02871	0.651	0.46895	0	0.546412	0.12157	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	0.871	0.18244	1.761000	0.38070	0.132000	0.15059	0.312000	0.19173	0.010000	0.18352	0.001000	0.17328	0.012000	0.09680	0.0:0.0:0.0:1.0	3.983	0.08994	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	9403.14	109	chr2	95929092	.	T	C	9403.14	.	AC=7;AF=0.5;AN=14;BaseQRankSum=2.46;DP=834;ExcessHet=14.2834;FS=2.733;MLEAC=7;MLEAF=0.5;MQ=47.24;MQRankSum=-7.649;QD=11.37;ReadPosRankSum=-2.432;SOR=0.918	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:43,27:70:99:.:.:922,0,1154:.	0	0	7	0
chr2	95929110	95929110	A	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.T1799C:p.I600T	.	444	879	199	0	0	199	0.101686	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.230	.	.	.	0.0502	0.0563	0.0250	0.0339	0.0515	0.0474	0.0455	0.0855	0.0009221	24	26028	rs80159651	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.38185	T	0.013	0.63109	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.17	0.78199	T	-0.21	0.10308	N	0.064	0.13911	-0.7459	0.58149	T	0.297	0.66886	T	6	0.0053180456	0.00117	T	.	.	.	0.230	0.53062	.	.	.	.	0.00358464158390252	0.00335	.	.	.	.	.	5.76E-4	0.00232	T	-0.102964	0.35934	T	-0.385677	0.35058	T	0.00148509498065692	0.00015	T	0.430857	0.15541	T	0.03336381	0.03541	0.041758195	0.04819	0.03336381	0.03540	0.041758195	0.04819	-5.849	0.49914	T	.	.	0.141	0.47448	B	.;.	.;.	1.598186	0.20432	14.75	0.94716897870735495	0.25385	0.00401	0.02002	N	AEFI	0.028900	0.02629	N	-0.753193177697584	0.14546	0.7255317	-1.00196959350196	0.09742	0.4864572	9.46784315172941E-6	0.01202	0.651	0.46895	0	0.546412	0.12157	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	-0.637	0.10926	0.215000	0.17352	-1.249000	0.05911	0.351000	0.19951	0.001000	0.13787	0.000000	0.08366	0.003000	0.05239	0.4587:0.0:0.0:0.5413	2.815	0.05119	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	10904.1	122	chr2	95929110	.	A	G	10904.1	.	AC=7;AF=0.5;AN=14;BaseQRankSum=7.44;DP=933;ExcessHet=14.2834;FS=9.276;MLEAC=7;MLEAF=0.5;MQ=45.86;MQRankSum=-7.496;QD=11.78;ReadPosRankSum=-1.573;SOR=1.331	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:50,28:78:99:0|1:95929110_A_G:1025,0,2012:95929110	0	0	7	0
chr2	95929126	95929126	C	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.G1783T:p.D595Y	.	442	865	215	0	0	215	0.11054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.242	.	.	.	0.0287	0.0327	0.0149	0.0205	0.0260	0.0277	0.0293	0.0461	0.0009221	24	26028	rs79434735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.005	0.72224	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.96	0.75553	T	-1.05	0.27463	N	0.094	0.37717	-0.7052	0.60188	T	0.302	0.67344	T	6	0.007255286	0.00165	T	.	.	.	0.242	0.54781	.	.	.	.	0.01955586045237903	0.01909	.	.	.	.	.	0.003986	0.03393	T	-0.0187037	0.49039	T	-0.264643	0.48358	T	0.00831936897839858	0.00100	T	0.876612	0.58915	D	0.08026257	0.18380	0.06422837	0.12840	0.08026257	0.18380	0.06422837	0.12840	-7.935	0.60626	D	.	.	0.193	0.50147	B	.;.	.;.	1.372804	0.17831	13.39	0.93504610952685097	0.23313	0.02178	0.06379	N	AEFI	0.025243	0.01698	N	-0.59865468081622	0.18985	0.9901359	-0.821302082525131	0.13979	0.7281023	1.38702267383256E-5	0.02871	0.651	0.46895	0	0.546412	0.12157	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	0.871	0.18244	-0.066000	0.11556	0.673000	0.20610	0.284000	0.18682	0.001000	0.13787	0.001000	0.17328	0.010000	0.09038	0.0:1.0:0.0:0.0	5.051	0.13847	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	14878.1	133	chr2	95929126	.	C	A	14878.1	.	AC=7;AF=0.5;AN=14;BaseQRankSum=2.97;DP=1096;ExcessHet=14.2834;FS=16.644;MLEAC=7;MLEAF=0.5;MQ=44.44;MQRankSum=-8.355;QD=13.59;ReadPosRankSum=-0.916;SOR=1.703	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:56,37:93:99:0|1:95929110_A_G:1385,0,2240:95929110	0	0	7	0
chr2	95929130	95929130	G	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.C1779G:p.D593E	.	442	863	217	0	0	217	0.111683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	.	.	.	0.0281	0.0314	0.0152	0.0199	0.0259	0.0271	0.0289	0.0443	0.0009221	24	26028	rs375866621	5.512e-06	6.156e-06	6.857e-06	4.153e-06	7.204e-06	2.37e-06	1.71e-06	3.1e-06	2.24e-06	0	0	0	0	0	0	7.204e-06	0	0	6.603e-06	6.573e-06	1.29e-05	0	1.478e-05	0	0	.	.	0	0	0	0	0	0	0	1.478e-05	0	0	1.0	0.00964	T	0.215	0.26306	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.99	0.75911	T	-0.17	0.09627	N	0.012	0.01274	-0.9830	0.34305	T	0.120	0.41886	T	6	0.0062747	0.00142	T	.	.	.	0.082	0.23913	0.088	0.00943	.	.	0.0012585486106362017	0.00115	.	.	.	.	.	6.61E-4	0.00291	T	-0.22299	0.17588	T	-0.558086	0.16556	T	0.0056942431256175	0.00062	T	0.361264	0.08382	T	0.030476715	0.02717	0.028199261	0.01033	0.030476715	0.02717	0.028199261	0.01033	1.103	0.00153	T	.	.	0.184	0.39898	B	.;.	.;.	-0.102250	0.03628	0.719	0.82362292130898662	0.14152	0.00009	0.00143	N	AEFI	0.011962	0.00118	N	-1.12759496650573	0.06156	0.2826552	-1.32800364383948	0.04072	0.1913117	8.82048009805059E-6	0.01202	0.651	0.46895	0	0.546412	0.12157	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	-0.0539	0.13146	0.175000	0.16577	-0.796000	0.07394	-0.724000	0.03774	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.5966:0.4034:0.0	4.774	0.12542	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	16069.1	136	chr2	95929130	.	G	C	16069.1	.	AC=7;AF=0.5;AN=14;BaseQRankSum=5.74;DP=1133;ExcessHet=14.2834;FS=18.396;MLEAC=7;MLEAF=0.5;MQ=43.98;MQRankSum=-8.318;QD=14.18;ReadPosRankSum=-1.245;SOR=1.786	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:57,38:95:99:0|1:95929110_A_G:1424,0,2279:95929110	0	0	7	0
chr2	95929135	95929135	C	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.G1774A:p.D592N	.	440	860	222	0	0	222	0.114315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	.	.	.	0.0258	0.0286	0.0139	0.0184	0.0245	0.0251	0.0266	0.0399	0.0009221	24	26028	rs111462973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.31	0.26306	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.0	0.76037	T	-0.29	0.11728	N	0.04	0.12341	-0.9745	0.36235	T	0.178	0.52334	T	6	0.0032269955	0.00055	T	.	.	.	0.061	0.17616	.	.	.	.	0.004280505726367948	0.00402	.	.	.	.	.	0.002625	0.02014	T	-0.209791	0.19408	T	-0.539127	0.18382	T	0.0104211887073546	0.00143	T	0.69513	0.30474	T	0.054424945	0.10441	0.04548125	0.06130	0.054424945	0.10440	0.04548125	0.06129	-6.736	0.52081	T	.	.	0.134	0.35352	B	.;.	.;.	2.140902	0.27259	17.40	0.99632098778018607	0.76081	0.00615	0.02724	N	AEFI	0.027355	0.02221	N	-0.807133128301253	0.13128	0.6445496	-1.03707422889346	0.08978	0.4441984	8.83579175512005E-6	0.01202	0.651	0.46895	0	0.653731	0.59785	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	-0.0868	0.13014	0.656000	0.24632	0.771000	0.21396	0.284000	0.18682	0.006000	0.17386	0.005000	0.19230	0.009000	0.08673	0.0:0.6672:0.0:0.3328	3.151	0.06100	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	16878.1	136	chr2	95929135	.	C	T	16878.1	.	AC=7;AF=0.5;AN=14;BaseQRankSum=4.46;DP=1199;ExcessHet=14.2834;FS=19.883;MLEAC=7;MLEAF=0.5;MQ=43.39;MQRankSum=-8.146;QD=14.46;ReadPosRankSum=-1.214;SOR=1.834	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:56,39:95:99:0|1:95929110_A_G:1469,0,2234:95929110	0	0	7	0
chr2	97091614	97091614	C	G	exonic	FAHD2B	.	nonsynonymous SNV	FAHD2B:NM_001320849:exon2:c.G93C:p.Q31H,FAHD2B:NM_199336:exon2:c.G93C:p.Q31H,FAHD2B:NM_001320848:exon3:c.G93C:p.Q31H	.	425	1077	18	2	0	22	0.0101103	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.165	0.00422248211753	0.0004	0.000399361	0.0009	0.0002	0.0003	0	0	0.0008	0	0.0026	0.000705	109	154602	rs149711241	0.0005	0.0005	0.0005	0.0006	0.0099	0.0005	0.0005	0.0078	0.0071	0.0001	0.0004	0	0	0.0001	0.0099	0.0004	0.0007	0.0020	0.0003	0.0003	0.0004	0.0003	0.0019	0.0003	0.0002	0.0010	0.0007	7.225e-05	0	0.0003	0	0	0	0.0136	0.0005	0.0005	0.0019	0.002	0.72154	D	0.006	0.70582	D	1.0	0.90584	D	0.968	0.71741	D	0.000000	0.84330	D	0.000000	0.979018	0.39519	D	3.015	0.86134	M	1.41	0.33412	T	-3.65	0.69950	D	0.389	0.48042	-0.9240	0.44999	T	0.139	0.45791	T	10	0.024113059	0.00652	T	0.004222	0.10184	T	0.165	0.42395	0.478	0.55663	0.483224754729	0.47952	0.44485261178547714	0.44403	2.56847412068	0.98003	0.661788702011	0.61665	T	0.141356	0.47638	T	-0.457888	0.01013	T	-0.436668	0.29181	T	0.201640233397484	0.20506	T	0.879112	0.59504	D	0.5513389	0.70030	0.37306365	0.62502	0.5513389	0.70031	0.37306365	0.62501	-9.871	0.73136	D	.	.	0.576	0.68694	P	.;.	.;.	3.282591	0.44983	22.0	0.99573820096700572	0.72561	0.59287	0.30873	D	AEFI	0.190616	0.31784	N	0.131407600783639	0.47931	3.012138	-0.0761058691466254	0.36381	2.116473	9.10975764646814E-5	0.04910	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	0.596	0.596	0.16678	2.606000	0.45956	2.017000	0.30191	0.181000	0.17804	1.000000	0.71638	1.000000	0.68203	0.561000	0.30436	0.0:0.9999:0.0:1.0E-4	6.990	0.23927	212	0.91760	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006546	0.010101	0.009511	0.005848	0.000000	0.008621	0.006098	0.000000	0.07143	963.45	58	chr2	97091614	.	C	G	963.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.779;DP=377;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=52.98;MQRankSum=0.31;QD=12.35;ReadPosRankSum=0.948;SOR=0.665	GT:AD:DP:GQ:PL	0/1:36,42:78:99:974,0,1007	6	0	1	0
chr2	97513220	97513220	G	A	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.C2765T:p.A922V	.	613	640	247	22	0	291	0.185232	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0963	0.0850	0.0216	0.0100	0.3296	0.0294	0.1310	0.0097	0.0001921	5	26028	rs80135902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.01155	T	0.01	0.15535	B	0.002	0.06944	B	.	.	.	.	.	.	.	0	0.06538	N	.	.	.	.	.	.	0.031	0.15888	.	.	.	.	.	.	.	0.0024380386	0.00036	T	.	.	.	.	.	.	.	.	.	0.0030564260149934064	0.00284	.	.	0.613379478455	0.54794	T	0.007581	0.06977	T	-0.0927998	0.37613	T	-0.371077	0.36763	T	.	.	.	0.352565	0.07917	T	0.017845605	0.00308	0.067346	0.13920	0.017845605	0.00308	0.067346	0.13919	-1.943	0.02973	T	.	.	0.108	0.23709	B	.;.;.	.;.;.	0.756607	0.11265	7.891	0.24358559582250291	0.01073	0.00023	0.00238	N	AEFI	.	.	.	.	.	.	.	.	.	1.16123222590643E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.223356	0.04673	0	0.0495094	0.09020	1.25	-0.477	0.11493	0.374000	0.20232	-0.021000	0.12925	-0.716000	0.03877	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.7908:0.0:0.2092:0.0	4.611	0.11791	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.242358	0.041667	0.256579	0.288889	0.375000	0.340426	0.247788	0.262376	0.5	15899.3	101	chr2	97513220	.	G	A	15899.3	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-1.012;DP=819;ExcessHet=11.5949;FS=1.796;MLEAC=7;MLEAF=0.583;MQ=37.36;MQRankSum=-4.104;QD=19.48;ReadPosRankSum=0.6;SOR=0.895	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:36,41:77:99:0|1:97513219_T_C:1613,0,1388:97513219	0	0	6	1
chr2	97513227	97513227	T	C	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.A2758G:p.K920E	.	611	640	249	22	0	293	0.186268	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0214	0.0529	0.0036	0	0.0702	0.0066	0.0682	0.0028	3.84e-05	1	26028	rs79390266	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.05707	T	0.544	0.37968	P	0.044	0.24394	B	.	.	.	.	.	.	.	1.445	0.36358	L	.	.	.	.	.	.	0.12	0.33250	.	.	.	.	.	.	.	0.0055945516	0.00124	T	.	.	.	.	.	.	.	0.168933306366	0.16529	0.003989330973675759	0.00373	.	.	0.735671639442	0.72336	T	0.033889	0.23100	T	-0.112291	0.34391	T	-0.399074	0.33492	T	.	.	.	0.369363	0.08678	T	0.05957855	0.12126	0.07929396	0.17837	0.05957855	0.12126	0.07929396	0.17837	-5.258	0.39526	T	.	.	0.142	0.33086	B	.;.;.	.;.;.	1.364301	0.17734	13.34	0.46228864402172176	0.03687	0.02246	0.06510	N	AEFI	.	.	.	.	.	.	.	.	.	4.68263816856013E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.223356	0.04673	0	0.103977	0.22772	1.25	1.25	0.20475	-0.034000	0.12176	-6.769000	0.01311	0.334000	0.19664	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.0:0.0:1.0	6.615	0.21965	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.049467	0.010417	0.061189	0.058140	0.000000	0.104651	0.038462	0.040000	0.5	17092.3	109	chr2	97513227	.	T	C	17092.3	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.344;DP=900;ExcessHet=11.5949;FS=2.51;MLEAC=7;MLEAF=0.583;MQ=37.92;MQRankSum=-4.452;QD=19.58;ReadPosRankSum=1.08;SOR=0.888	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:39,43:82:99:0|1:97513219_T_C:1668,0,1468:97513219	0	0	6	1
chr2	97513244	97513244	G	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.C2741A:p.P914Q	.	595	624	272	31	0	334	0.211125	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0023	0.0143	0	0	0	0.0016	0	0	3.84e-05	1	26028	rs79527710	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.569	0.10391	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	.	.	.	-1.445	0.00556	N	.	.	.	.	.	.	0.188	0.27435	.	.	.	.	.	.	.	0.0063654184	0.00144	T	.	.	.	.	.	.	.	0.320256813643	0.31633	0.004245720093313631	0.00398	.	.	0.703683018684	0.67677	T	0.006209	0.05647	T	-0.125373	0.32247	T	-0.417866	0.31321	T	.	.	.	0.315568	0.06252	T	0.023773897	0.01146	0.07268516	0.15708	0.023773897	0.01146	0.07268516	0.15708	0.674	0.00180	T	.	.	0.102	0.17827	B	.;.;.	.;.;.	-0.119120	0.03530	0.672	0.19522481671669692	0.00662	0.00471	0.02257	N	AEFI	.	.	.	.	.	.	.	.	.	1.11447686844719E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.347871	0.05795	0	0.0495094	0.09020	1.25	-0.0318	0.13235	0.839000	0.27239	1.716000	0.28228	-0.610000	0.04588	0.997000	0.40164	0.949000	0.28973	0.001000	0.02609	0.2806:0.0:0.2874:0.432	2.311	0.03930	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4286	20767.0	120	chr2	97513244	.	G	T	20767.0	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-0.977;DP=1023;ExcessHet=8.2628;FS=0.524;MLEAC=6;MLEAF=0.429;MQ=38.49;MQRankSum=-5.106;QD=20.34;ReadPosRankSum=0.451;SOR=0.777	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:41,46:87:99:0|1:97513244_G_T:1808,0,1581:97513244	1	0	6	0
chr2	97513253	97513253	A	G	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.T2732C:p.V911A	.	594	617	279	32	0	343	0.217502	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0.0083	0	0	0	0.0008	0	0	3.84e-05	1	26028	rs80295552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.424	0.23914	T	0.008	0.14655	B	0.002	0.06944	B	.	.	.	.	.	.	.	0.69	0.16971	N	.	.	.	.	.	.	0.109	0.12627	.	.	.	.	.	.	.	0.00813821	0.00185	T	.	.	.	.	.	.	.	0.216624796971	0.21254	0.003043674037080383	0.00283	.	.	0.697517633438	0.66786	T	0.028597	0.20678	T	-0.148518	0.28543	T	-0.451112	0.27575	T	.	.	.	0.321068	0.06505	T	0.015220522	0.00128	0.050442122	0.07918	0.015220522	0.00128	0.050442122	0.07917	-2.994	0.10116	T	.	.	0.23	0.46273	B	.;.;.	.;.;.	0.168625	0.05582	2.036	0.46468697738120324	0.03724	0.00493	0.02333	N	AEFI	.	.	.	.	.	.	.	.	.	1.09581247054722E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.347871	0.05795	0	0.0502799	0.09584	1.25	0.037	0.13512	-0.176000	0.09802	-1.469000	0.05369	-0.632000	0.04510	0.008000	0.17931	0.000000	0.08366	0.002000	0.04165	0.5217:0.0:0.4783:0.0	4.080	0.09400	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000639	0.000000	0.002857	0.004630	0.000000	0.000000	0.000000	0.000000	0.5	21976.1	130	chr2	97513253	.	A	G	21976.1	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-1.633;DP=1084;ExcessHet=14.2834;FS=1.729;MLEAC=7;MLEAF=0.5;MQ=38.62;MQRankSum=-5.367;QD=20.46;ReadPosRankSum=-0.152;SOR=0.804	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:42,48:90:99:0|1:97513244_G_T:1889,0,1619:97513244	0	0	7	0
chr2	97513254	97513254	C	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.G2731A:p.V911M	.	594	616	280	32	0	344	0.218274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0.0076	0	0	0	0.0011	0	0	7.68e-05	2	26028	rs74341509	0.0001	0.0001	0.0001	0.0002	0.0002	0.0001	0.0001	0.0002	0.0001	0	0	0	0	0	0	0.0002	0.0002	0	8.256e-05	9.122e-05	7.317e-05	9.244e-05	0.0002	4.621e-05	3.529e-05	9.276e-05	7.178e-05	0	0	0	0	0	0	0	0.0002	0	0	.	.	.	0.098	0.39040	T	0.053	0.22573	B	0.004	0.10090	B	.	.	.	.	.	.	.	0.345	0.11182	N	.	.	.	.	.	.	0.115	0.14480	.	.	.	.	.	.	.	0.008039981	0.00183	T	.	.	.	.	.	.	.	0.201204373187	0.19734	0.004376723944163083	0.00411	.	.	0.681571960449	0.64493	T	0.010384	0.09385	T	-0.177895	0.24050	T	-0.493311	0.23044	T	.	.	.	0.538946	0.18179	T	0.01859633	0.00382	0.05722728	0.10366	0.01859633	0.00382	0.05722728	0.10366	-3.253	0.13139	T	.	.	0.167	0.37746	B	.;.;.	.;.;.	0.527632	0.08965	5.745	0.40177876468154022	0.02819	0.00378	0.01916	N	AEFI	.	.	.	.	.	.	.	.	.	1.15642168101809E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.347871	0.05795	0	0.0502799	0.09584	1.25	-0.662	0.10840	-0.590000	0.05854	-9.274000	0.00843	0.304000	0.19002	0.004000	0.16614	0.000000	0.08366	0.002000	0.04165	0.0:0.6788:0.0:0.3212	5.565	0.16451	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006345	0.000000	0.005682	0.000000	0.000000	0.000000	0.008264	0.008696	0.5	21979.1	129	chr2	97513254	.	C	T	21979.1	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-1.182;DP=1084;ExcessHet=14.2834;FS=1.105;MLEAC=7;MLEAF=0.5;MQ=38.6;MQRankSum=-5.281;QD=20.48;ReadPosRankSum=-0.089;SOR=0.8	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:42,48:90:99:0|1:97513244_G_T:1889,0,1619:97513244	0	0	7	0
chr2	97513268	97513268	C	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.G2717A:p.R906K	.	591	591	298	42	0	382	0.244246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2502	0.2966	0.2791	0.2632	0.3769	0.2470	0.2431	0.1747	0.0004995	13	26028	rs144131603	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.274	0.27235	T	0.119	0.26641	B	0.008	0.13708	B	.	.	.	.	.	.	.	1.495	0.37439	L	.	.	.	.	.	.	0.042	0.16028	.	.	.	.	.	.	.	0.002357304	0.00035	T	.	.	.	.	.	.	.	.	.	0.005747616653950952	0.00544	.	.	0.613570392132	0.54820	T	0.017136	0.14032	T	-0.187866	0.22573	T	-0.507633	0.21559	T	.	.	.	0.572743	0.20478	T	0.03131732	0.02950	0.0672792	0.13896	0.03131732	0.02950	0.0672792	0.13896	-3.791	0.20670	T	.	.	0.137	0.29968	B	.;.;.	.;.;.	-1.310648	0.00429	0.009	0.36842002943516644	0.02393	0.00779	0.03201	N	AEFI	.	.	.	.	.	.	.	.	.	1.25854079706441E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.0933222	0.21027	1.25	0.308	0.15062	-1.265000	0.02953	-5.898000	0.01560	-1.898000	0.00526	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.7823:0.0:0.2177	5.370	0.15434	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.308701	0.315385	0.320055	0.309735	0.250000	0.263158	0.341912	0.338843	0.5	23134.1	135	chr2	97513268	.	C	T	23134.1	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-0.204;DP=1127;ExcessHet=14.2834;FS=1.103;MLEAC=7;MLEAF=0.5;MQ=39;MQRankSum=-5.273;QD=20.6;ReadPosRankSum=-0.689;SOR=0.807	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:41,48:89:99:0|1:97513268_C_T:1892,0,1563:97513268	0	0	7	0
chr2	97513270	97513270	A	C	exonic	ANKRD36B	.	stopgain	ANKRD36B:NM_025190:exon38:c.T2715G:p.Y905X	.	591	592	298	41	0	380	0.242967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2438	0.2932	0.2713	0.2615	0.3746	0.2394	0.2372	0.1697	0.0005763	15	26028	rs879468063	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	0.16586	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.361473	0.04047	T	-0.757008	0.03221	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	3.385426	0.46848	22.4	0.44838944251633817	0.03476	0.03038	0.07927	N	AEFI	.	.	.	.	.	.	.	.	.	1.13426159498125E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.166916	0.28634	1.25	0.017	0.13431	-0.091000	0.11111	-1.488000	0.05326	0.375000	0.20354	0.013000	0.18845	0.000000	0.08366	0.003000	0.05239	0.7855:0.0:0.2145:0.0	4.462	0.11093	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.323424	0.318182	0.331044	0.327434	0.333333	0.307018	0.349265	0.347107	0.5	20800.1	137	chr2	97513270	.	A	C	20800.1	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-0.107;DP=1138;ExcessHet=14.2834;FS=1.1;MLEAC=7;MLEAF=0.5;MQ=39.03;MQRankSum=-5.362;QD=18.37;ReadPosRankSum=-0.967;SOR=0.801	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:41,48:89:99:0|1:97513268_C_T:1892,0,1563:97513268	0	0	7	0
chr2	97513271	97513271	T	C	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.A2714G:p.Y905C	.	591	590	299	42	0	383	0.245042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2908	0.3387	0.3276	0.3085	0.4114	0.2887	0.2821	0.2034	0.0006531	17	26028	rs146893214	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	0.56640	T	0.022	0.18677	B	0.002	0.06944	B	.	.	.	.	.	.	.	1.14	0.29013	L	.	.	.	.	.	.	0.149	0.51315	.	.	.	.	.	.	.	0.0020657778	0.00029	T	.	.	.	.	.	.	.	.	.	0.004479552258500605	0.00420	.	.	0.829705476761	0.86516	D	0.127676	0.45486	T	0.00706366	0.52624	T	-0.22763	0.52001	T	.	.	.	0.424058	0.11326	T	0.08367851	0.19332	0.12435671	0.29977	0.08367851	0.19332	0.12435671	0.29976	-3.342	0.14285	T	.	.	0.228	0.46049	B	.;.;.	.;.;.	2.163208	0.27562	17.50	0.45197924751744767	0.03530	0.10868	0.16248	N	AEFI	.	.	.	.	.	.	.	.	.	1.47313282737101E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.0933222	0.21027	1.25	1.25	0.20475	2.350000	0.43718	-0.293000	0.10176	0.334000	0.19664	0.983000	0.35670	0.000000	0.08366	0.004000	0.06068	0.0:0.2551:0.0:0.7449	3.086	0.05898	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.421021	0.365672	0.435440	0.398230	0.416667	0.385965	0.470588	0.438017	0.5	23472.1	137	chr2	97513271	.	T	C	23472.1	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-0.301;DP=1143;ExcessHet=14.2834;FS=1.103;MLEAC=7;MLEAF=0.5;MQ=39.04;MQRankSum=-5.362;QD=20.59;ReadPosRankSum=-0.917;SOR=0.786	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:42,48:90:99:0|1:97513268_C_T:1889,0,1584:97513268	0	0	7	0
chr2	97513281	97513281	C	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.G2704A:p.E902K	.	587	587	303	45	0	393	0.250798	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4801	0.5496	0.4874	0.4823	0.5076	0.4642	0.4639	0.4735	0.0017529	271	154602	rs5011473	3.077e-05	0.0002	3.34e-05	2.81e-05	0.0001	2.332e-05	2.077e-05	3.145e-05	1.671e-05	0.0001	0	0	0	0.0007	0	2.729e-06	0	0	0	9.135e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.094	0.41573	T	0.98	0.59353	D	0.855	0.60933	P	.	.	.	.	.	.	.	1.765	0.45800	L	.	.	.	.	.	.	0.208	0.65758	.	.	.	.	.	.	.	0.002158165	0.00031	T	.	.	.	.	.	.	.	.	.	0.03228563945784759	0.03176	.	.	0.789947628975	0.80434	T	0.190084	0.54451	T	0.0749938	0.61451	D	-0.130053	0.60967	T	.	.	.	0.733627	0.34942	T	0.02507305	0.01405	0.09507035	0.22531	0.02507305	0.01404	0.09507035	0.22530	-6.657	0.51486	T	.	.	0.139	0.30476	B	.;.;.	.;.;.	2.117809	0.26958	17.30	0.4037492673049709	0.02845	0.56632	0.30167	D	AEFI	.	.	.	.	.	.	.	.	.	1.05171682619281E-5	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.167599	0.28683	1.4	1.4	0.21393	3.749000	0.54867	0.048000	0.13961	-0.659000	0.04360	1.000000	0.71638	0.001000	0.17328	0.002000	0.04165	0.0:1.0:0.0:0.0	8.752	0.33786	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.529548	0.601351	0.515110	0.508696	0.416667	0.517241	0.552448	0.516393	0.5	23449.1	142	chr2	97513281	.	C	T	23449.1	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-0.063;DP=1159;ExcessHet=14.2834;FS=1.102;MLEAC=7;MLEAF=0.5;MQ=39.29;MQRankSum=-5.39;QD=20.41;ReadPosRankSum=-0.462;SOR=0.793	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:40,47:87:99:0|1:97513268_C_T:1853,0,1518:97513268	0	0	7	0
chr2	97513354	97513354	T	C	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.A2631G:p.I877M	.	663	628	207	24	0	255	0.168762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4962	0.4838	0.4975	0.4959	0.5008	0.4970	0.4959	0.4971	0.0692716	1803	26028	rs879259208	1.426e-06	2.057e-06	1.417e-06	1.436e-06	9.218e-07	2.4e-07	9e-08	.	.	0	0	0	0	0	0	9.218e-07	1.742e-05	0	3.782e-05	4.181e-05	5.896e-05	1.554e-05	0.0004	1.406e-05	9.03e-06	0.0001	9.02e-05	0	0	0.0004	0	0	0	0	0	0	0	.	.	.	0.093	0.39799	T	0.563	0.38396	P	0.061	0.26820	B	.	.	.	.	.	.	.	0.69	0.16971	N	.	.	.	.	.	.	0.086	0.34120	.	.	.	.	.	.	.	0.00250566	0.00038	T	.	.	.	.	.	.	.	.	.	0.005410322706841144	0.00512	.	.	0.634645044804	0.57804	T	0.046049	0.27308	T	-0.0562864	0.43486	T	-0.318628	0.42725	T	.	.	.	0.682432	0.29103	T	0.06877274	0.15009	0.14055093	0.33500	0.06877274	0.15009	0.14055093	0.33499	-5.398	0.40900	T	.	.	0.175	0.41387	B	.;.;.	.;.;.	2.260359	0.28881	17.94	0.78590890435183058	0.12367	0.19138	0.20543	N	AEFI	.	.	.	.	.	.	.	.	.	1.43761767599795E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.223356	0.04673	0	0.0910582	0.20564	1.4	1.4	0.21393	0.366000	0.20099	-0.250000	0.10515	0.334000	0.19664	0.995000	0.38783	0.000000	0.08366	0.026000	0.12556	0.3508:0.0:0.0:0.6492	3.561	0.07435	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.493015	0.474026	0.484848	0.500000	0.500000	0.517241	0.503597	0.495868	0.5	4532.09	85	chr2	97513354	.	T	C	4532.09	.	AC=7;AF=0.5;AN=14;BaseQRankSum=0.484;DP=650;ExcessHet=14.2834;FS=0;MLEAC=7;MLEAF=0.5;MQ=40.44;MQRankSum=-2.424;QD=7.23;ReadPosRankSum=0.855;SOR=0.702	GT:AD:DP:GQ:PL	0/1:24,18:42:99:421,0,596	0	0	7	0
chr2	97536318	97536318	C	G	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon34:c.G2173C:p.V725L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	0.45744	T	0.946	0.53363	P	0.919	0.65474	D	.	.	.	.	.	.	.	0.69	0.16971	N	.	.	.	.	.	.	0.048	0.03392	.	.	.	.	.	.	.	0.07592192	0.11794	T	.	.	.	.	.	.	.	0.0138822411134	0.00435	0.003926989500660363	0.00367	.	.	0.621563851833	0.55950	T	0.007646	0.07043	T	-0.0958853	0.37105	T	-0.375509	0.36247	T	.	.	.	0.472453	0.14032	T	0.03111366	0.02892	0.055344358	0.09690	0.03111366	0.02892	0.055344358	0.09689	-4.703	0.33441	T	.	.	0.254	0.50147	B	.;.;.	.;.;.	0.023887	0.04450	1.174	0.39754153446237939	0.02763	0.00423	0.02085	N	AEFI	.	.	.	.	.	.	.	.	.	1.94324804426401E-6	0.01202	0.162113	0.03585	0	0.195528	0.04277	0	0.078618	0.02440	0	0.24566	0.04862	0	0.0842941	0.19258	1.66	-1.76	0.07574	-2.053000	0.01488	-10.046000	0.00746	-0.412000	0.05259	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2573:0.3777:0.0:0.365	2.022	0.03298	292	0.88363	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	30.18	17	chr2	97536318	.	C	G	30.18	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-1.775;DP=109;ExcessHet=0;FS=7.16;MLEAC=1;MLEAF=0.1;MQ=57.46;MQRankSum=-3.349;QD=2.32;ReadPosRankSum=2.04;SOR=2.804	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:10,3:13:39:0|1:97536318_C_G:39,0,333:97536318	4	0	1	2
chr2	99108931	99108931	A	C	exonic	TSGA10	.	nonsynonymous SNV	TSGA10:NM_001349012:exon5:c.T112G:p.C38G,TSGA10:NM_001349013:exon6:c.T112G:p.C38G,TSGA10:NM_001349014:exon6:c.T112G:p.C38G,TSGA10:NM_182911:exon6:c.T112G:p.C38G,TSGA10:NM_025244:exon7:c.T112G:p.C38G	.	438	1083	1	0	0	1	0.000461467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.00419517911797	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1473709701	1.03e-05	1.026e-05	6.834e-06	1.381e-05	8.253e-05	6.19e-06	4.91e-06	3.822e-05	2.698e-05	0	0	0	0	0	0	7.206e-06	0	8.253e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.349	0.13088	T	0.076	0.42614	T	0.126	0.26920	B	0.026	0.20792	B	0.000781	0.41888	D	0.107074	0.964326	0.25986	N	1.445	0.36358	L	1.0	0.41392	T	-1.08	0.28084	N	0.385	0.42737	-1.0614	0.11410	T	0.062	0.25923	T	10	0.097149104	0.17476	T	0.004195	0.10089	T	0.123	0.34020	0.213	0.13210	0.043077524339	0.03247	0.1068803035180063	0.10618	0.165905707828	0.18718	0.591838300228	0.51753	T	0.027856	0.20306	T	-0.183783	0.23174	T	-0.398825	0.33520	T	0.178473722320661	0.19138	T	0.868613	0.57764	D	0.157119	0.35421	0.1125338	0.27154	0.157119	0.35420	0.1125338	0.27153	-5.292	0.39864	T	.	.	0.087	0.11172	B	.;.;.;.;.	.;.;.;.;.	3.294753	0.45205	22.1	0.91054654312662109	0.20306	0.75116	0.36765	D	AEFI	0.511519	0.54012	D	-0.253601170803982	0.30959	1.731326	-0.0762612807947926	0.36374	2.116014	1.32392522081119E-4	0.05486	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.586402	0.36253	0	.	.	4.61	4.61	0.56724	1.022000	0.29655	10.780000	0.83739	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.8278:0.0:0.0:0.1722	8.549	0.32603	334	0.86273	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	457.83	27	chr2	99108931	.	A	C	457.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.79;DP=203;ExcessHet=0;FS=1.377;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.47;ReadPosRankSum=-1.856;SOR=1.127	GT:AD:DP:GQ:PL	0/1:15,19:34:99:468,0,283	6	0	1	0
chr2	102235211	102235211	C	T	exonic	IL1RL2	.	nonsynonymous SNV	IL1RL2:NM_001351448:exon8:c.C1186T:p.P396S,IL1RL2:NM_001351447:exon9:c.C1258T:p.P420S,IL1RL2:NM_001351449:exon10:c.C1159T:p.P387S,IL1RL2:NM_001351450:exon10:c.C1159T:p.P387S,IL1RL2:NM_001351446:exon11:c.C1612T:p.P538S,IL1RL2:NM_003854:exon11:c.C1612T:p.P538S	.	426	1071	24	1	0	26	0.0119926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.0126193052341	0.0016	0.000998403	0.0020	0.0002	0.0031	0	0.0002	0.0028	0.0044	0.0010	0.0018111	280	154602	rs34599745	0.0016	0.0016	0.0015	0.0017	0.0115	0.0015	0.0015	0.0092	0.0084	0.0004	0.0027	0.0276	0	3.744e-05	0.0115	0.0010	0.0035	0.0010	0.0019	0.0019	0.0020	0.0018	0.0039	0.0017	0.0016	0.0031	0.0028	0.0002	0	0.0039	0.0328	0	0	0.0068	0.0014	0.0033	0.0008	0.423	0.19639	T	0.576	0.08624	T	0.264	0.31602	B	0.171	0.35348	B	0.059926	0.22286	N	0.476664	0.658135	0.33026	D	0.805	0.20218	L	4.26	0.03239	T	-2.74	0.58248	D	0.159	0.16586	-0.9948	0.31352	T	0.013	0.04843	T	10	0.004668802	0.00098	T	0.012619	0.31353	T	0.043	0.11576	.	.	0.230578612272	0.22657	0.14035395634796904	0.13958	0.492520036173	0.47894	0.279347628355	0.07401	T	0.05994	0.31251	T	-0.628486	0.00098	T	-0.681101	0.06916	T	0.0278438053430133	0.01665	T	0.691931	0.30971	T	0.06884452	0.15034	0.1534214	0.36054	0.06884452	0.15033	0.1534214	0.36053	-5.586	0.47059	T	.	.	0.153	0.33891	B	.;.	.;.	1.047562	0.14288	10.86	0.96117114997529507	0.28762	0.56784	0.30206	D	AEFDBHCI	0.110525	0.21914	N	-0.253571691715073	0.30961	1.731402	-0.165919650119598	0.32800	1.869694	0.999999997152961	0.74766	0.55562	0.30534	0	0.68496	0.65989	0	0.615948	0.41167	0	0.665031	0.64506	0	.	.	4.92	4.92	0.64147	0.928000	0.28431	1.102000	0.24078	0.454000	0.21428	0.444000	0.26519	0.037000	0.21475	0.168000	0.20914	0.0:0.7852:0.138:0.0768	10.227	0.42410	819	0.41190	Toll/interleukin-1 receptor homology (TIR) domain|Toll/interleukin-1 receptor homology (TIR) domain|Toll/interleukin-1 receptor homology (TIR) domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009063	0.005051	0.009511	0.017544	0.000000	0.008621	0.009146	0.003788	0.07143	991.44	36	chr2	102235211	.	C	T	991.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.398;DP=237;ExcessHet=0;FS=1.098;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=17.09;ReadPosRankSum=0.388;SOR=0.892	GT:AD:DP:GQ:PL	0/1:21,37:58:99:1002,0,513	6	0	1	0
chr2	108259015	108259015	G	0	exonic	SULT1C3	.	.	.	.	441	128	465	180	308	1133	0.763182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7143	6150.48	116	chr2	108259015	.	G	*	6150.48	.	AC=10;AF=0.714;AN=14;DP=903;ExcessHet=0.3476;FS=0;MLEAC=10;MLEAF=0.714;MQ=60;QD=7.4;SOR=0.598	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:27,44:71:99:.:.:1767,0,1000:.	0	3	4	0
chr2	109760758	109760758	C	A	exonic	RGPD6	.	nonsynonymous SNV	RGPD6:NM_001384363:exon1:c.C8A:p.P3H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	35.84	4	chr2	109760758	.	C	A	35.84	.	AC=2;AF=0.2;AN=10;DP=21;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.1;MQ=57;QD=17.92;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	4	1	0	2
chr2	110118071	110118071	T	-	exonic	MALL	.	frameshift deletion	MALL:NM_001371559:exon1:c.39delA:p.G14Efs*18	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006147	16	26028	rs796707560	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0019	0.0033	0.0018	0.0021	0.0056	0.0018	0.0017	0.0040	0.0034	0.0019	0	0.0008	0.0006	0.0056	0.0033	0	0.0019	0.0020	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	45.7	.	chr2	110118070	.	CT	C	45.7	.	AC=2;AF=0.5;AN=4;DP=3;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.5;MQ=60;QD=22.85;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:53,6,0	1	1	0	5
chr2	113132707	113132707	G	A	exonic	IL1RN	.	nonsynonymous SNV	IL1RN:NM_173842:exon4:c.G370A:p.A124T,IL1RN:NM_000577:exon5:c.G316A:p.A106T,IL1RN:NM_001379360:exon5:c.G268A:p.A90T,IL1RN:NM_173841:exon6:c.G379A:p.A127T,IL1RN:NM_173843:exon6:c.G268A:p.A90T,IL1RN:NM_001318914:exon7:c.G268A:p.A90T	Interleukin 1 receptor antagonist deficiency, Autosomal recessive	0	1505	17	0	0	17	0.00561612	.	.	.	448759	not_provided|Sterile_multifocal_osteomyelitis_with_periostitis_and_pustulosis|IL1RN-related_disorder|Autoinflammatory_syndrome	MedGen:C3661900|MONDO:MONDO:0013021,MedGen:C2748507,OMIM:612852,Orphanet:210115|.|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.029	.	0.0009	0.00479233	0.0030	0.0011	0.0007	0.0143	0	0.0009	0.0033	0.0094	0.0026326	407	154602	rs45507693	0.0014	0.0014	0.0012	0.0016	0.0123	0.0013	0.0013	0.0100	0.0095	0.0009	0.0007	0.0047	0.0107	0	0.0123	0.0004	0.0030	0.0081	0.0013	0.0013	0.0011	0.0014	0.0106	0.0011	0.0011	0.0084	0.0076	0.0008	0	0.0010	0.0052	0.0106	0	0.0068	0.0005	0.0028	0.0066	1.0	0.00964	T	1.0	0.01155	T	0.002	0.15914	B	0.006	0.18783	B	0.008667	0.30726	N	0.390178	0.999912	0.19599	N	-1.63	0.00401	N	3.02	0.08986	T	2.52	0.00229	N	0.05	0.02179	-0.9366	0.43149	T	0.004	0.01400	T	10	0.008407414	0.00191	T	.	.	.	0.029	0.06676	.	.	0.242825505644	0.23883	0.5592029854060361	0.55847	0.0529077588486	0.05834	0.289524585009	0.08853	T	0.125073	0.45053	T	-0.703256	0.00035	T	-0.769981	0.02768	T	1.88654503290309e-05	0.00000	T	0.157184	0.01392	T	0.075816624	0.17107	0.05437313	0.09340	0.113247275	0.26747	0.058866408	0.10952	-0.639	0.01064	T	0.039757481599584636	0.00332	0.061	0.02733	B	.;.;.;.;.	.;.;.;.;.	-0.273803	0.02735	0.363	0.59931702614615556	0.06341	0.01521	0.05017	N	AEFBI	0.066869	0.13117	N	-1.64792111267281	0.01044	0.04527927	-1.48801726331597	0.02442	0.1123296	0.991469403513662	0.32498	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.8	-0.802	0.10340	-0.103000	0.10909	-0.086000	0.12117	-1.234000	0.01323	0.303000	0.25352	0.000000	0.08366	0.041000	0.14368	0.5105:0.0:0.3735:0.116	6.543	0.21588	591	0.68823	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.012588	0.010101	0.013587	0.023392	0.000000	0.000000	0.003049	0.007576	0.1429	738.24	34	chr2	113132707	.	G	A	738.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=2.38;DP=244;ExcessHet=0.3476;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=10.55;ReadPosRankSum=0.368;SOR=0.654	GT:AD:DP:GQ:PL	0/1:34,25:59:99:606,0,711	5	0	2	0
chr2	119436920	119436920	G	A	exonic	TMEM37	.	nonsynonymous SNV	TMEM37:NM_183240:exon2:c.G53A:p.R18H	.	436	1085	1	0	0	1	0.000460617	.	.	.	2682349	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.051	0.00635637157018	.	.	4.151e-05	0	0	0	0.0005	3.014e-05	0	0	3.23e-05	5	154602	rs780577316	2.257e-05	2.257e-05	2.314e-05	2.2e-05	5.974e-05	1.61e-05	1.416e-05	9.89e-06	3.7e-06	5.974e-05	0	0	5.038e-05	0.0004	0	5.396e-06	0	2.319e-05	3.285e-05	3.283e-05	2.569e-05	4.035e-05	0.0002	1.261e-05	7.98e-06	.	.	2.412e-05	0	0	0	0.0002	0.0002	0	1.47e-05	0	0	0.431	0.09514	T	0.306	0.19972	T	0.003	0.11197	B	0.0	0.01387	B	0.578383	0.05521	N	1.223480	1	0.08975	N	0	0.06538	N	.	.	.	-0.42	0.14193	N	0.088	0.06587	-0.9418	0.42330	T	0.024	0.10194	T	9	0.01436156	0.00302	T	0.006356	0.16696	T	0.051	0.14325	0.16	0.06396	0.104622674875	0.10061	0.1428964748988607	0.14212	0.40514499607	0.41401	0.20956620574	0.00793	T	0.073182	0.34635	T	-0.523863	0.00418	T	-0.889639	0.00578	T	0.0161304497268225	0.00390	T	0.170383	0.01611	T	0.015037311	0.00119	0.034552827	0.02544	0.015037311	0.00119	0.034552827	0.02543	-5.118	0.38096	T	.	.	0.073	0.04806	B	.;.	.;.	-1.299809	0.00438	0.009	0.81048416587540806	0.13494	0.03993	0.09413	N	AEFDBCI	0.098443	0.19838	N	-1.65772215217088	0.01003	0.0434768	-1.63633240917736	0.01448	0.06550052	0.999999996112297	0.74766	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	4.93	-8.04	0.00980	-0.829000	0.04522	-5.365000	0.01746	-0.105000	0.15698	0.000000	0.06391	0.000000	0.08366	0.629000	0.32131	0.7778:0.0965:0.1257:0.0	14.217	0.65341	910	0.22284	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.07143	337.46	37	chr2	119436920	.	G	A	337.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.226;DP=221;ExcessHet=0;FS=3.12;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.23;ReadPosRankSum=0.289;SOR=0.318	GT:AD:DP:GQ:PL	0/1:18,15:33:99:348,0,413	6	0	1	0
chr2	124911490	124911490	C	T	exonic	CNTNAP5	.	nonsynonymous SNV	CNTNAP5:NM_001367498:exon23:c.C3679T:p.R1227W,CNTNAP5:NM_130773:exon23:c.C3676T:p.R1226W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.451	0.156676354	.	.	.	.	.	.	.	.	.	.	.	.	.	rs376650684	8.283e-06	1.231e-05	9.598e-06	6.95e-06	6.943e-05	4.42e-06	3.49e-06	1.841e-05	9.1e-06	0	6.943e-05	0	2.553e-05	0	0	4.524e-06	0	3.575e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.41637	D	0.023	0.57104	D	0.996	0.68779	D	0.549	0.49194	P	0.127696	0.18758	N	0.367581	0.96389	0.26005	N	2.595	0.75868	M	-2.38	0.88298	D	-2.52	0.54702	D	0.53	0.55886	-0.0522	0.81160	T	0.652	0.87869	D	10	0.5091638	0.61995	D	0.156676	0.83740	D	0.451	0.75143	0.407	0.44066	0.69747905316	0.69486	0.3851643764380575	0.38431	0.358396974487	0.37549	0.517060935497	0.41212	T	0.036829	0.24249	T	-0.074791	0.40558	T	-0.144855	0.59696	T	0.79013603925705	0.45698	D	0.968903	0.88767	D	0.09219827	0.21623	0.101300314	0.24247	0.09219827	0.21622	0.101300314	0.24247	-8.649	0.65411	D	.	.	0.110	0.21011	B	.	.	3.952366	0.57911	23.9	0.99921875244288505	0.98787	0.67320	0.33390	D	AEFI	0.257067	0.37587	N	0.276042268491958	0.54936	3.658268	0.23380060579401	0.51731	3.353292	2.99833678959625E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.69	2.71	0.31092	0.384000	0.20396	0.191000	0.15744	0.596000	0.33519	0.937000	0.32526	0.001000	0.17328	0.921000	0.45669	0.3425:0.5448:0.1127:0.0	10.384	0.43310	958	0.09170	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	490.46	36	chr2	124911490	.	C	T	490.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.465;DP=229;ExcessHet=0;FS=5.864;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.22;ReadPosRankSum=1.75;SOR=1.125	GT:AD:DP:GQ:PL	0/1:27,21:48:99:501,0,648	6	0	1	0
chr2	127651559	127651559	-	G	exonic	GPR17	.	frameshift insertion	GPR17:NM_001161417:exon2:c.825dupG:p.A276Gfs*27,GPR17:NM_001161416:exon3:c.825dupG:p.A276Gfs*27,GPR17:NM_005291:exon3:c.909dupG:p.A304Gfs*27,GPR17:NM_001161415:exon4:c.909dupG:p.A304Gfs*27	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	923.4	34	chr2	127651559	.	T	TG	923.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.197;DP=275;ExcessHet=0;FS=4.496;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.54;ReadPosRankSum=-1.056;SOR=0.335	GT:AD:DP:GQ:PL	0/1:47,33:80:99:934,0,1437	6	0	1	0
chr2	130914815	130914815	C	T	exonic	ARHGEF4	.	nonsynonymous SNV	ARHGEF4:NM_001367493:exon2:c.C869T:p.S290L	.	433	1074	13	2	0	17	0.00785219	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00359425	.	.	.	.	.	.	.	.	0.0014101	218	154602	rs116650837	0.0101	0.0093	0.0104	0.0099	0.0116	0.0100	0.0099	0.0114	0.0113	0.0016	0.0046	0.0013	5.711e-05	0.0054	0.0032	0.0116	0.0092	0.0042	0.0068	0.0067	0.0073	0.0062	0.0118	0.0064	0.0063	0.0112	0.0109	0.0017	0	0.0044	0.0009	0	0.0041	0	0.0118	0.0090	0.0037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999999	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0044852197	0.00092	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002307	0.01700	T	.	.	.	.	.	.	.	.	.	0.429357	0.11628	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	0.02765	B	.	.	-0.266321	0.02767	0.374	0.72902924776476974	0.10136	0.00040	0.00335	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.999945399905462	0.47345	0.090766	0.02384	0	0.059962	0.00310	0	0.129117	0.03641	0	0.062806	0.01542	0	0.0810911	0.18602	4.58	-0.824	0.10266	0.124000	0.15557	.	.	-1.711000	0.00743	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4288:0.0:0.5712	7.741	0.28008	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	175.56	5	chr2	130914815	.	C	T	175.56	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.66;DP=140;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.24;ReadPosRankSum=-0.044;SOR=0.784	GT:AD:DP:GQ:PL	0/1:13,6:19:99:186,0,376	6	0	1	0
chr2	157321525	157321525	C	G	exonic	ERMN	.	nonsynonymous SNV	ERMN:NM_001304346:exon3:c.G541C:p.V181L,ERMN:NM_020711:exon3:c.G601C:p.V201L,ERMN:NM_001009959:exon4:c.G640C:p.V214L,ERMN:NM_001304344:exon4:c.G601C:p.V201L,ERMN:NM_001304345:exon4:c.G601C:p.V201L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.194	0.00202641819198	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0035	0.0001	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	9.206e-05	2.239e-05	0	7.6e-05	0	0	0.0002	0.0002	5.858e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.591	0.16134	T	0.753	0.43334	P	0.241	0.38645	B	0.000353	0.45440	D	0.096119	0.825017	0.28834	N	2.39	0.68882	M	.	.	.	-2.33	0.51646	N	0.32	0.63713	-1.0082	0.27479	T	0.064	0.26667	T	9	0.2529603	0.42657	T	0.002026	0.03668	T	0.194	0.47447	0.398	0.42590	0.449379577644	0.44558	0.335866359051135	0.33499	0.188691245063	0.21188	0.471151411533	0.34839	T	0.175291	0.52483	T	0.0512656	0.58505	T	-0.164137	0.57977	T	0.936455905437469	0.60547	D	0.767123	0.39577	T	0.19478427	0.41242	0.19957332	0.43846	0.19478427	0.41242	0.19957332	0.43845	-4.026	0.24787	T	.	.	0.610	0.71848	P	.;.;.	.;.;.	3.057320	0.41045	21.3	0.99387453982124174	0.62157	0.97238	0.73508	D	AEFDBI	0.448369	0.50363	N	0.192805104781322	0.50852	3.271494	0.289710337560756	0.54937	3.657473	0.999627476162613	0.41093	0.706298	0.61202	0	0.709663	0.81188	0	0.491513	0.07944	0	0.564101	0.26826	0	.	.	5.81	4.94	0.64645	2.554000	0.45507	4.885000	0.45705	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.1418:0.7861:0.0:0.0721	9.504	0.38199	557	0.71576	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	163.08	99	chr2	157321525	.	C	G	163.08	.	AC=2;AF=0.2;AN=10;BaseQRankSum=-3.132;DP=598;ExcessHet=0.3476;FS=496.34;MLEAC=2;MLEAF=0.2;MQ=60;MQRankSum=0;QD=0.73;ReadPosRankSum=0.608;SOR=9.401	GT:AD:DP:GQ:PL	0/1:42,22:64:41:41,0,533	3	0	2	2
chr2	159169357	159169357	G	A	exonic	TANC1	.	nonsynonymous SNV	TANC1:NM_001350063:exon7:c.G685A:p.A229T,TANC1:NM_033394:exon9:c.G1054A:p.A352T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.0124618557869	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1339057797	6.842e-07	1.368e-06	0	1.375e-06	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	6.571e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.574	0.06106	T	0.863	0.03380	T	0.0	0.02946	B	0.001	0.04355	B	0.010168	0.30037	N	0.346933	0.830731	0.34914	D	-0.49	0.02651	N	-0.35	0.68616	T	0.08	0.06026	N	0.104	0.08786	-0.9640	0.38409	T	0.106	0.38734	T	10	0.09073472	0.15834	T	0.012462	0.31052	T	0.060	0.17295	0.277	0.23004	0.327686398923	0.32377	0.18348818264842498	0.18267	0.176319117618	0.19845	0.403667956591	0.25580	T	0.038165	0.24743	T	-0.238184	0.15581	T	-0.579912	0.14553	T	0.0583399049937725	0.06905	T	0.534247	0.17838	T	0.023949888	0.01180	0.03402012	0.02396	0.023949888	0.01180	0.03402012	0.02396	-4.621	0.32435	T	.	.	0.074	0.05103	B	.	.	1.413238	0.18288	13.65	0.80534793674113414	0.13249	0.61202	0.31416	D	ALL	0.202646	0.32922	N	-0.877942774812309	0.11369	0.5482625	-0.71443949065666	0.16602	0.879003	0.999999999470431	0.74766	0.714207	0.82060	0	0.588015	0.36545	0	0.658983	0.55881	0	0.616919	0.45865	0	.	.	5.54	1.7	0.23359	1.255000	0.32512	0.815000	0.21791	-0.721000	0.03806	0.904000	0.31524	0.965000	0.29475	0.140000	0.19946	0.2036:0.1229:0.6735:0.0	7.234	0.25232	645	0.63593	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	456.49	30	chr2	159169357	.	G	A	456.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.32;DP=212;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.04;ReadPosRankSum=-0.613;SOR=0.573	GT:AD:DP:GQ:PL	0/1:16,19:35:99:467,0,325	6	0	1	0
chr2	159894082	159894082	T	A	exonic	LY75;LY75-CD302	.	nonsynonymous SNV	LY75-CD302:NM_001198759:exon3:c.A469T:p.I157F,LY75-CD302:NM_001198760:exon3:c.A469T:p.I157F,LY75:NM_002349:exon3:c.A469T:p.I157F	.	434	1087	1	0	0	1	0.00045977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.219	0.0201005319886	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1202865997	2.768e-06	2.736e-06	0	5.573e-06	3.607e-05	6.5e-07	4.4e-07	9.58e-06	4.66e-06	0	0	0	0	0	0	0	1.675e-05	3.607e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.68238	D	0.004	0.74150	D	0.974	0.57829	D	0.646	0.52296	P	0.156857	0.17787	N	0.402115	0.999929	0.51308	D	2.96	0.85114	M	2.93	0.09822	T	-3.1	0.63554	D	0.536	0.62526	-1.1428	0.01257	T	0.058	0.24465	T	10	0.30999354	0.48481	T	0.020101	0.42623	T	0.219	0.51417	0.556	0.67409	0.255777322467	0.25185	0.9402113738113428	0.94002	0.0780515776832	0.08785	.	.	.	0.388859	0.74943	T	-0.187182	0.22672	T	-0.398994	0.33500	T	0.770462155342102	0.44467	D	0.842416	0.53011	T	0.37855422	0.59212	0.24628203	0.50134	0.37855422	0.59212	0.24628203	0.50133	-8.755	0.66106	D	.	.	0.136	0.40666	B	.;.;.	.;.;.	3.010685	0.40256	21.1	0.98399859598698547	0.41052	0.64990	0.32588	D	AEFGBCI	0.387430	0.46741	N	0.132933720203165	0.48004	3.018389	0.0440464444417981	0.41783	2.516189	0.999999381273231	0.74766	0.75658	0.98901	0	0.858454	0.99946	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.44	3.07	0.34476	0.317000	0.19235	0.956000	0.22957	0.665000	0.62972	0.668000	0.28331	0.998000	0.33993	0.901000	0.43729	0.0:0.2321:0.0:0.7679	8.912	0.34716	623	0.65786	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	165.63	33	chr2	159894082	.	T	A	165.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.052;DP=208;ExcessHet=0;FS=1.63;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=5.52;ReadPosRankSum=1.2;SOR=0.343	GT:AD:DP:GQ:PL	0/1:21,9:30:99:176,0,571	6	0	1	0
chr2	178532364	178532364	C	G	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon186:c.G77056C:p.A25686P,TTN:NM_133432:exon187:c.G77431C:p.A25811P,TTN:NM_133437:exon187:c.G77632C:p.A25878P,TTN:NM_133378:exon307:c.G96547C:p.A32183P,TTN:NM_001256850:exon308:c.G99328C:p.A33110P,TTN:NM_001267550:exon358:c.G104251C:p.A34751P	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	56831	Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Dilated_cardiomyopathy_1G|Cardiomyopathy|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|not_specified|Tibial_muscular_dystrophy|Early-onset_myopathy_with_fatal_cardiomyopathy|TTN-related_disorder|not_provided|Cardiovascular_phenotype	MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MedGen:CN169374|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|.|MedGen:C3661900|MedGen:CN230736	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.239	0.0343024965576	0.0010	0.000199681	0.0012	0	0.0003	0	0	0.0020	0.0011	0.0004	0.0010737	166	154602	rs185683410	0.0009	0.0009	0.0009	0.0010	0.0023	0.0009	0.0009	0.0013	0.0011	2.987e-05	0.0002	0.0314	0	0	0.0023	0.0003	0.0029	0.0002	0.0010	0.0010	0.0010	0.0009	0.0005	0.0008	0.0008	0.0004	0.0003	4.811e-05	0	6.533e-05	0.0297	0	0	0	0.0005	0.0019	0	0.062	0.36912	T	.	.	.	0.337	0.33382	B	0.123	0.32463	B	.	.	.	.	0.999935	0.51612	D	0	0.06538	N	-0.06	0.63568	T	-2.49	0.54217	N	0.223	0.32148	-0.8506	0.51926	T	0.145	0.46805	T	9	0.0036444366	0.00067	T	0.034302	0.55580	D	0.239	0.54358	.	.	0.299770980665	0.29595	.	.	0.143563329922	0.16206	0.343197584152	0.16916	T	.	.	.	-0.272383	0.11492	T	-0.281864	0.46612	T	0.0315734217417317	0.02238	T	0.890111	0.62362	D	.	.	.	.	.	.	.	.	-4.237	0.27284	T	.	.	0.621	0.69743	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.792384	0.22787	15.76	0.94329444082467795	0.24661	0.97368	0.74307	D	AEFBCI	.	.	.	0.0142502331785381	0.42503	2.562142	0.176139089818947	0.48542	3.068823	1.0	0.98316	0.632932	0.41330	0	0.71359	0.82159	0	0.601832	0.32385	0	0.714379	0.83352	0	.	.	5.93	5.93	0.95888	6.146000	0.71541	.	.	0.599000	0.40250	1.000000	0.71638	0.998000	0.33993	0.772000	0.36596	0.0:1.0:0.0:0.0	19.946	0.97182	365	0.84644	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	1017.44	33	chr2	178532364	.	C	G	1017.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.147;DP=378;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.82;ReadPosRankSum=-0.616;SOR=0.646	GT:AD:DP:GQ:PL	0/1:54,40:94:99:1028,0,1447	6	0	1	0
chr2	187478788	187478788	G	T	exonic	TFPI	.	nonsynonymous SNV	TFPI:NM_001032281:exon7:c.C644A:p.T215K,TFPI:NM_001318941:exon8:c.C644A:p.T215K	.	439	1081	1	0	1	2	0.000462321	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	0.0409973540277	0.0002	0.000998403	0.0002	0.0014	8.697e-05	0.0001	0	4.538e-05	0	0	0.0001682	26	154602	rs144664871	5.682e-05	5.951e-05	5.585e-05	5.78e-05	0.0005	4.68e-05	4.304e-05	0.0003	0.0003	0.0005	0.0002	0	0.0001	0	0.0004	3.329e-05	0.0002	0	0.0004	0.0004	0.0004	0.0003	0.0011	0.0003	0.0003	0.0008	0.0007	0.0011	0	0.0006	0	0	0	0	7.353e-05	0.0005	0	0.009	0.57480	D	0.006	0.70582	D	0.996	0.68779	D	0.929	0.66367	D	.	.	.	.	1	0.81001	D	.	.	.	-0.17	0.65563	T	-0.4	0.13805	N	0.363	0.40465	-0.5495	0.66806	T	0.338	0.70478	T	8	0.04061094	0.02644	T	0.040997	0.59686	D	0.115	0.32236	.	.	0.780090758719	0.77806	.	.	.	.	.	.	.	.	.	.	-0.361856	0.04026	T	-0.338109	0.40558	T	0.032638631771655	0.02412	T	0.449255	0.12651	T	.	.	.	.	.	.	.	.	-2.926	0.09406	T	.	.	0.086	0.10691	B	.;.	.;.	2.593132	0.33647	19.40	0.98559647709639275	0.42961	0.92468	0.55782	D	AEFDBI	0.671760	0.63839	D	0.446573690396816	0.64009	4.646091	0.438131344305485	0.63958	4.64041	0.999848558252874	0.43971	0.706548	0.73137	0	0.573078	0.20572	0	0.573888	0.23631	0	0.714379	0.83352	0	.	.	4.63	4.63	0.57175	3.444000	0.52678	4.310000	0.42966	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	14.662	0.68489	568	0.70638	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.07143	249.63	27	chr2	187478788	.	G	T	249.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.684;DP=206;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.85;ReadPosRankSum=-2.094;SOR=0.551	GT:AD:DP:GQ:PL	0/1:11,12:23:99:260,0,218	6	0	1	0
chr2	189667457	189667457	G	A	exonic	ASNSD1	.	nonsynonymous SNV	ASNSD1:NM_001353497:exon3:c.G1325A:p.R442K,ASNSD1:NM_019048:exon4:c.G1325A:p.R442K	.	431	1083	8	0	0	8	0.00367985	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.0036856969133	0.0012	0.000399361	0.0011	0.0005	0.0008	0	0	0.0016	0.0011	0.0005	0.0010349	160	154602	rs34986680	0.0015	0.0015	0.0015	0.0015	0.0043	0.0014	0.0014	0.0030	0.0026	0.0002	0.0016	0.0072	0	7.489e-05	0.0043	0.0015	0.0017	0.0004	0.0016	0.0016	0.0013	0.0018	0.0056	0.0014	0.0013	0.0046	0.0043	0.0001	0	0.0056	0.0095	0	0	0.0034	0.0016	0.0019	0.0002	0.691	0.04289	T	1.0	0.19908	T	0.007	0.14184	B	0.005	0.11217	B	0.020504	0.27024	N	0.468603	0.99999	0.08975	N	0.255	0.09829	N	1.0	0.41392	T	-0.09	0.08340	N	0.077	0.05162	-1.0216	0.23195	T	0.043	0.18576	T	10	0.003089428	0.00051	T	0.003686	0.08496	T	0.027	0.05988	.	.	0.0806252709748	0.07271	0.3970532960791964	0.39620	0.109505955851	0.12349	0.294593274593	0.09598	T	0.00739	0.08919	T	-0.564106	0.00240	T	-0.590339	0.13636	T	0.000985309175592829	0.00009	T	0.624837	0.24302	T	0.047216903	0.08035	0.052024607	0.08490	0.047216903	0.08035	0.052024607	0.08489	-1.327	0.01445	T	.	.	0.070	0.11701	B	.;.;.	.;.;.	1.601078	0.20470	14.76	0.92484850953089515	0.21917	0.15077	0.18732	N	AEFBI	0.116701	0.22893	N	-0.717312550353474	0.15536	0.7837567	-0.556002215770328	0.20647	1.113326	0.935271538110542	0.27206	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.85	3.73	0.41982	0.947000	0.28680	2.029000	0.30245	0.676000	0.76740	0.031000	0.20493	0.981000	0.30433	0.980000	0.58198	0.1893:0.1624:0.6483:0.0	7.095	0.24483	753	0.51500	Asparagine synthase;Asparagine synthase;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.005435	0.000000	0.000000	0.000000	0.003049	0.003788	0.07143	790.45	40	chr2	189667457	.	G	A	790.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.807;DP=274;ExcessHet=0;FS=3.57;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.17;ReadPosRankSum=0.57;SOR=1.193	GT:AD:DP:GQ:PL	0/1:31,29:60:99:801,0,781	6	0	1	0
chr2	197523648	197523648	T	C	exonic	HSPE1-MOB4;MOB4	.	nonsynonymous SNV	MOB4:NM_015387:exon2:c.T85C:p.S29P,HSPE1-MOB4:NM_001202485:exon3:c.T193C:p.S65P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.267	0.00959765325218	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.265e-05	0.0013	8.89e-05	9.642e-05	0.0001	7.932e-05	7.455e-05	9.055e-05	8.505e-05	3.135e-05	0	0.0001	0	0	0	0.0001	8.651e-05	8.389e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.579	0.08535	T	0.0	0.02946	B	0.001	0.04355	B	0.000000	0.84330	D	0.053972	0.999993	0.81001	D	-1.795	0.00292	N	.	.	.	1.18	0.01107	N	0.438	0.48042	-0.9766	0.35772	T	0.034	0.14813	T	9	0.10651526	0.19742	T	0.009598	0.25107	T	0.267	0.58126	0.341	0.33302	0.043077524339	0.03247	0.669975451478545	0.66935	1.34794577022	0.84014	0.778468906879	0.78697	T	0.055673	0.30073	T	0.0500577	0.58352	T	-0.165872	0.57820	T	0.811242938041687	0.47136	D	0.892711	0.63097	D	0.20700711	0.42893	0.20881961	0.45200	0.20700711	0.42893	0.20881961	0.45199	-0.876	0.00872	T	.	.	0.084	0.09820	B	.;.	.;.	3.297964	0.45264	22.1	0.8980768734361223	0.19119	0.98559	0.84088	D	AEFBI	0.838587	0.75609	D	-0.516315308048682	0.21553	1.144632	-0.200201322439165	0.31530	1.785231	0.986724794269661	0.31114	0.732398	0.92422	0	0.724815	0.89359	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.02	5.02	0.66742	5.652000	0.67632	7.608000	0.61804	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	14.399	0.66596	474	0.77851	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	722.27	43	chr2	197523648	.	T	C	722.27	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.41;DP=335;ExcessHet=11.5949;FS=543.859;MLEAC=7;MLEAF=0.583;MQ=60;MQRankSum=0;QD=2.18;ReadPosRankSum=1.46;SOR=9.507	GT:AD:DP:GQ:PL	0/1:14,8:22:68:68,0,163	0	0	6	1
chr2	202821479	202821479	T	C	exonic	ICA1L	.	nonsynonymous SNV	ICA1L:NM_001288624:exon3:c.A238G:p.I80V,ICA1L:NM_001288622:exon4:c.A238G:p.I80V,ICA1L:NM_001288623:exon4:c.A238G:p.I80V,ICA1L:NM_138468:exon5:c.A238G:p.I80V	.	437	1050	33	2	0	37	0.017314	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.161	.	0.0027	0.00299521	0.0038	0.0009	0.0046	0	0	0.0044	0.0078	0.0061	0.0037451	579	154602	rs144482724	0.0035	0.0035	0.0033	0.0036	0.0155	0.0034	0.0033	0.0129	0.0120	0.0010	0.0042	0.0112	2.535e-05	0.0004	0.0155	0.0033	0.0043	0.0062	0.0028	0.0028	0.0030	0.0026	0.0039	0.0026	0.0025	0.0035	0.0034	0.0009	0	0.0029	0.0098	0	0.0006	0.0170	0.0039	0.0062	0.0039	0.035	0.50676	D	0.008	0.72224	D	0.004	0.12183	B	0.009	0.14300	B	0.000505	0.43753	N	0.209861	1	0.81001	D	0.69	0.16971	N	-1.04	0.76561	T	-0.85	0.24026	N	0.095	0.07535	-0.9435	0.42057	T	0.114	0.40605	T	10	0.010987043	0.00242	T	.	.	.	0.161	0.41658	.	.	0.65404562455	0.65116	0.2827756610626727	0.28190	0.127220965103	0.14337	0.415514528751	0.27218	T	0.053694	0.29549	T	-0.424201	0.01609	T	-0.378944	0.35847	T	0.00587731285849128	0.00064	T	0.578142	0.21082	T	0.058083612	0.11641	0.074363604	0.16259	0.058083612	0.11641	0.074363604	0.16259	-3.237	0.26286	T	.	.	0.088	0.14293	B	.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.	2.060043	0.26190	17.03	0.98756593559104555	0.45739	0.80609	0.40202	D	AEFI	0.445910	0.50219	N	-0.394280166996794	0.25672	1.395341	-0.23245328244914	0.30381	1.710069	9.56336154837546E-4	0.08054	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.84	2.03	0.25714	-0.059000	0.11688	.	.	0.665000	0.62972	0.232000	0.24664	0.696000	0.26205	0.999000	0.91618	0.1493:0.1653:0.1552:0.5302	1.124	0.01624	754	0.51307	Arfaptin homology (AH) domain|Arfaptin homology (AH) domain|Arfaptin homology (AH) domain;Arfaptin homology (AH) domain|Arfaptin homology (AH) domain|Arfaptin homology (AH) domain;Arfaptin homology (AH) domain|Arfaptin homology (AH) domain|Arfaptin homology (AH) domain;.;Arfaptin homology (AH) domain|Arfaptin homology (AH) domain|Arfaptin homology (AH) domain;Arfaptin homology (AH) domain|Arfaptin homology (AH) domain|Arfaptin homology (AH) domain;Arfaptin homology (AH) domain|Arfaptin homology (AH) domain|Arfaptin homology (AH) domain;Arfaptin homology (AH) domain|Arfaptin homology (AH) domain|Arfaptin homology (AH) domain;Arfaptin homology (AH) domain|Arfaptin homology (AH) domain|Arfaptin homology (AH) domain;Arfaptin homology (AH) domain|Arfaptin homology (AH) domain;Arfaptin homology (AH) domain|Arfaptin homology (AH) domain;Arfaptin homology (AH) domain|Arfaptin homology (AH) domain;Arfaptin homology (AH) domain|Arfaptin homology (AH) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.016129	0.015152	0.013587	0.014620	0.000000	0.017241	0.027607	0.015152	0.08333	155.27	26	chr2	202821479	.	T	C	155.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.61;DP=175;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=6.75;ReadPosRankSum=0.518;SOR=1.022	GT:AD:DP:GQ:PL	0/1:15,8:23:99:165,0,288	5	0	1	1
chr2	211386934	211386934	C	T	exonic	ERBB4	.	nonsynonymous SNV	ERBB4:NM_001042599:exon26:c.G3352A:p.V1118M,ERBB4:NM_005235:exon27:c.G3400A:p.V1134M	Amyotrophic lateral sclerosis 19, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1894968	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.205	0.0388010789466	.	0.000399361	9.885e-05	9.61e-05	0	0.0001	0	7.493e-05	0	0.0003	9.7e-05	15	154602	rs139785964	8.482e-05	8.482e-05	8.44e-05	8.526e-05	0.0002	7.209e-05	6.796e-05	0.0001	8.645e-05	5.974e-05	4.472e-05	0	7.557e-05	0	0	8.363e-05	0.0001	0.0002	4.597e-05	4.593e-05	3.856e-05	5.372e-05	0.0004	2.108e-05	1.526e-05	7.301e-05	3.033e-05	2.407e-05	0	0	0	0	9.423e-05	0	4.41e-05	0	0.0004	0.083	0.33091	T	0.222	0.25748	T	0.918	0.50838	P	0.306	0.47728	B	0.005171	0.33034	N	0.284396	0.895023	0.36038	D	1.975	0.53506	M	-0.95	0.75438	T	-0.91	0.24460	N	0.177	0.19055	-0.1327	0.79338	T	0.384	0.74024	T	10	0.1173386	0.22157	T	0.038801	0.58435	D	0.205	0.49236	.	.	0.782325246824	0.78031	0.224209269266772	0.22335	0.609326213147	0.55669	0.668420612812	0.62612	T	0.292142	0.79083	T	-0.283732	0.10276	T	-0.353189	0.38839	T	0.0935367088903235	0.11631	T	0.970903	0.91743	D	0.10710338	0.25325	0.08733267	0.20293	0.10710338	0.25324	0.08733267	0.20292	-4.981	0.37239	T	.	.	0.143	0.31456	B	.;.;.	.;.;.	3.808959	0.54931	23.5	0.99851981392829825	0.93102	0.97818	0.77359	D	AEFI	0.607833	0.59764	D	0.359151783284693	0.59225	4.10011	0.391634413770201	0.61050	4.299672	0.991234053280696	0.32418	0.487112	0.14033	0	0.573888	0.26702	0	0.657636	0.52715	0	0.631631	0.49550	0	.	.	5.6	4.73	0.59485	4.566000	0.60559	.	.	0.599000	0.40250	0.996000	0.39380	0.999000	0.35428	0.957000	0.51019	0.0:0.9285:0.0:0.0715	14.233	0.65448	518	0.74548	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	805.44	33	chr2	211386934	.	C	T	805.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.636;DP=260;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.37;ReadPosRankSum=0.709;SOR=0.616	GT:AD:DP:GQ:PL	0/1:48,38:86:99:816,0,1025	6	0	1	0
chr2	218882255	218882255	C	T	exonic	WNT10A	.	nonsynonymous SNV	WNT10A:NM_025216:exon2:c.C208T:p.R70W	Odontoonychodermal dysplasia, Autosomal recessive;Schopf-Schulz-Passarge syndrome, Autosomal recessive;Tooth agenesis, selective, 4, Autosomal recessive, Autosomal dominant	0	1504	17	1	0	19	0.00627684	.	.	.	284751	WNT10A-related_disorder|Odonto-onycho-dermal_dysplasia|Tooth_agenesis,_selective,_4|SchC6pf-Schulz-Passarge_syndrome|not_provided	.|MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980,Orphanet:2721|MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400,Orphanet:99798|MONDO:MONDO:0009145,MedGen:C1857069,OMIM:224750,Orphanet:50944|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.299	.	0.0014	0.00279553	0.0020	0.0003	0.0017	0	0.0012	0.0018	0.0011	0.0055	0.0019146	296	154602	rs146460077	0.0014	0.0014	0.0012	0.0015	0.0060	0.0013	0.0013	0.0056	0.0054	0.0001	0.0011	0	2.519e-05	0.0014	0.0042	0.0011	0.0015	0.0060	0.0011	0.0011	0.0011	0.0011	0.0081	0.0010	0.0009	0.0061	0.0054	0.0002	0	0.0006	0	0	0.0008	0.0034	0.0014	0.0024	0.0081	0.002	0.72154	D	0.004	0.74150	D	0.999	0.77913	D	0.953	0.69275	D	0.000023	0.55875	D	0.068078	0.999973	0.53665	D	3.435	0.92070	M	-1.08	0.77078	T	-4.05	0.74504	D	0.913	0.91505	0.320	0.87875	D	0.637	0.87313	D	10	0.037638843	0.02130	T	.	.	.	0.707	0.89514	.	.	0.898296813337	0.89728	0.8702632220315178	0.86992	0.419777840034	0.42519	0.74913829565	0.74320	T	0.81634	0.95462	D	-0.144364	0.29199	T	0.0220503	0.71763	D	0.0671734759478568	0.08248	T	0.979302	0.92791	D	0.7039727	0.78274	0.68975693	0.81747	0.7694865	0.82018	0.7239651	0.83698	-9.19	0.68912	D	0.8335943025557462	0.90384	0.286	0.51832	B	.	.	4.460144	0.69407	25.4	0.99765108438073646	0.85417	0.83216	0.42352	D	AEFDGBCI	0.699248	0.65665	D	0.146017693718751	0.48623	3.072358	0.00651769649618139	0.40018	2.381575	0.999990522677494	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.596491	0.31596	0	0.63947	0.58350	0	.	.	4.82	0.679	0.17141	0.497000	0.22222	0.901000	0.22550	-0.180000	0.10397	0.995000	0.38783	0.999000	0.35428	0.990000	0.65344	0.5329:0.4671:0.0:0.0	13.623	0.61617	801	0.44448	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.000000	0.008152	0.002924	0.000000	0.000000	0.003049	0.003788	0.07143	965.45	33	chr2	218882255	.	C	T	965.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.105;DP=257;ExcessHet=0;FS=0.87;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.7;ReadPosRankSum=1.18;SOR=0.703	GT:AD:DP:GQ:PL	0/1:36,40:76:99:976,0,841	6	0	1	0
chr2	222424661	222424661	G	A	exonic	SGPP2	.	nonsynonymous SNV	SGPP2:NM_152386:exon1:c.G59A:p.R20H	.	429	1069	23	1	0	25	0.011558	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	.	.	0.00399361	0.0138	0	0	0	.	0.0039	0	0.0180	0.0012872	199	154602	rs376841716	0.0023	0.0023	0.0020	0.0026	0.0126	0.0022	0.0022	0.0119	0.0116	0.0002	0.0020	0.0027	0.0001	0.0003	0.0105	0.0017	0.0030	0.0126	0.0018	0.0018	0.0013	0.0022	0.0120	0.0016	0.0015	0.0095	0.0086	0.0004	0	0.0012	0.0026	0.0002	0.0002	0.0171	0.0023	0.0024	0.0120	0.386	0.10980	T	0.452	0.12884	T	0.008	0.14655	B	0.003	0.08700	B	0.013435	0.28844	N	0.276698	0.554989	0.32165	D	0.895	0.22405	L	.	.	.	-0.72	0.20358	N	0.091	0.06990	-1.0788	0.07582	T	0.038	0.16333	T	9	0.0041615367	0.00082	T	.	.	.	0.017	0.02790	.	.	0.230578612272	0.22657	0.42760346846087455	0.42677	0.149012571831	0.16801	0.90182942152	0.96641	D	0.234663	0.60174	T	-0.500115	0.00571	T	-0.479481	0.24501	T	0.0187840325698881	0.00590	T	0.728227	0.34274	T	0.07421612	0.16640	0.059101015	0.11033	0.07421612	0.16640	0.059101015	0.11032	-4.932	0.36093	T	.	.	0.138	0.30130	B	.	.	2.848171	0.37596	20.5	0.991557897066076	0.53959	0.26767	0.23087	N	AEFDBHCI	0.118203	0.23123	N	-0.520355358974004	0.21423	1.136781	-0.344598151552555	0.26677	1.475046	0.999999379710716	0.74766	0.59774	0.34471	0	0.52208	0.09955	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	3.96	2.05	0.25860	0.961000	0.28864	4.382000	0.43185	0.552000	0.28158	0.901000	0.31451	1.000000	0.68203	0.990000	0.65344	0.0946:0.157:0.5873:0.1611	4.009	0.09103	778	0.48011	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007421	0.000000	0.003165	0.000000	0.000000	0.000000	0.016129	0.007143	0.08333	533.27	13	chr2	222424661	.	G	A	533.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.544;DP=155;ExcessHet=0;FS=5.969;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=23.19;ReadPosRankSum=1.33;SOR=0.086	GT:AD:DP:GQ:PL	0/1:3,20:23:31:543,0,31	5	0	1	1
chr2	224845579	224845579	C	T	exonic	DOCK10	.	nonsynonymous SNV	DOCK10:NM_001290263:exon20:c.G2281A:p.V761I,DOCK10:NM_001363762:exon20:c.G2338A:p.V780I,DOCK10:NM_014689:exon20:c.G2299A:p.V767I	.	442	1079	1	0	0	1	0.000463177	.	.	.	3659442	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.015	0.00906759860767	0.0002	.	0.0001	0.0001	8.654e-05	0.0001	0.0008	9.005e-05	0.0011	6.067e-05	0.0001035	16	154602	rs201901572	6.913e-05	6.977e-05	7.082e-05	6.742e-05	0.0009	5.783e-05	5.394e-05	0.0003	0.0002	0.0003	0.0002	0	0	0.0003	0.0009	4.319e-05	0.0001	3.484e-05	0.0002	0.0002	0.0002	0.0001	0.0006	0.0001	0.0001	0.0003	0.0002	9.666e-05	0	0.0006	0	0	0.0009	0	2.94e-05	0.0010	0	0.509	0.07944	T	0.605	0.10572	T	0.01	0.15535	B	0.023	0.19966	B	0.002648	0.36173	N	0.283820	0.997408	0.22672	N	0.74	0.18910	N	2.4	0.15608	T	-0.38	0.13418	N	0.26	0.29659	-1.0044	0.28636	T	0.027	0.11485	T	10	0.03475076	0.01696	T	0.009068	0.23869	T	0.015	0.02232	.	.	0.149567049428	0.14543	0.1386243970455843	0.13785	0.130723557862	0.14746	0.38186326623	0.22521	T	0.027978	0.20368	T	-0.503531	0.00546	T	-0.663505	0.08032	T	0.0264788623899221	0.01472	T	0.808019	0.45805	T	0.009757505	0.00004	0.022853468	0.00303	0.009757505	0.00004	0.022853468	0.00303	-4.498	0.30863	T	.	.	0.07	0.06433	B	.;.;.	.;.;.	2.022760	0.25704	16.86	0.92837987753367746	0.22372	0.79061	0.39107	D	AEFBI	0.086561	0.17551	N	-0.527452287582671	0.21196	1.123109	-0.357095140306277	0.26290	1.451179	0.880775283677917	0.25616	0.732398	0.92422	0	0.724815	0.89359	0	0.618467	0.43123	0	0.727631	0.95156	0	.	.	5.43	2.18	0.26813	0.878000	0.27770	-0.022000	0.12912	-0.814000	0.03034	0.971000	0.34370	0.001000	0.17328	0.939000	0.47918	0.0:0.7643:0.0:0.2357	11.416	0.49198	823	0.40596	.;DHR-1 domain|DHR-1 domain|Dedicator of cytokinesis D, C2 domain;DHR-1 domain|DHR-1 domain|Dedicator of cytokinesis D, C2 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	525.46	33	chr2	224845579	.	C	T	525.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.425;DP=226;ExcessHet=0;FS=2.488;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.18;ReadPosRankSum=-0.735;SOR=0.537	GT:AD:DP:GQ:PL	0/1:24,23:47:99:536,0,533	6	0	1	0
chr2	231460728	231460730	TCG	-	exonic	NCL	.	nonframeshift deletion	NCL:NM_005381:exon4:c.750_752del:p.D250del	.	409	1099	14	0	0	14	0.00632911	.	.	.	2819033	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0040	0.00159744	0.0027	0.0022	0.0016	0.0007	0.0014	0.0022	0.0022	0.0069	0.0005763	15	26028	rs534320031	0.0030	0.0031	0.0028	0.0032	0.0064	0.0029	0.0029	0.0060	0.0058	0.0032	0.0021	0.0005	0.0005	0.0014	0.0061	0.0030	0.0029	0.0064	0.0026	0.0026	0.0026	0.0026	0.0075	0.0024	0.0023	0.0055	0.0049	0.0020	0.0088	0.0029	0.0003	0.0010	0.0015	0.0136	0.0029	0.0019	0.0075	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020657	0.020408	0.012465	0.014599	0.000000	0.017544	0.015432	0.034615	0.07143	612.41	36	chr2	231460727	.	TTCG	T	612.41	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.8;DP=252;ExcessHet=0;FS=4.716;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.31;ReadPosRankSum=-1.394;SOR=1.627	GT:AD:DP:GQ:PL	0/1:29,17:46:99:623,0,1147	6	0	1	0
chr2	233204361	233204361	G	A	exonic	INPP5D	.	nonsynonymous SNV	INPP5D:NM_001017915:exon26:c.G3211A:p.G1071S,INPP5D:NM_005541:exon26:c.G3208A:p.G1070S	.	424	1080	15	3	0	21	0.00962861	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.363	.	0.0009	0.00399361	0.0044	0.0004	0.0008	0.0001	0.0245	0.0021	0.0096	0.0119	0.0034993	541	154602	rs201835044	0.0023	0.0023	0.0020	0.0027	0.0121	0.0023	0.0022	0.0115	0.0112	0.0001	0.0010	0.0025	0.0001	0.0242	0.0056	0.0007	0.0024	0.0121	0.0032	0.0032	0.0018	0.0046	0.0141	0.0029	0.0029	0.0114	0.0104	0.0002	0	0.0005	0.0023	0.0006	0.0267	0.0068	0.0015	0.0019	0.0141	0.81	0.03036	T	0.649	0.07196	T	0.001	0.07471	B	0.005	0.11217	B	0.226060	0.03487	N	1.502010	1	0.08975	N	.	.	.	-3.91	0.96047	D	-0.16	0.09460	N	0.033	0.00882	-0.0794	0.80567	T	0.555	0.83724	D	9	0.005005479	0.00108	T	.	.	.	0.363	0.68319	.	.	0.64318162235	0.64023	0.21220313058028137	0.21136	0.568978505272	0.53093	0.376267433167	0.21727	T	0.189903	0.54427	T	-0.29231	0.09406	T	-0.182271	0.56313	T	0.00114685909032254	0.00011	T	.	.	.	0.022848252	0.00977	0.034002054	0.02391	0.022848252	0.00977	0.034002054	0.02390	-3.568	0.17395	T	.	.	0.068	0.03773	B	.;.;.	.;.;.	0.266732	0.06449	2.920	0.9359925467849376	0.23455	0.05062	0.10853	N	AEFDBCI	0.022055	0.01055	N	-1.31630893350496	0.03488	0.1558982	-1.37956244714507	0.03471	0.1619534	0.999948501950974	0.47345	0.631515	0.41029	0	0.697927	0.68747	0	0.645312	0.48771	0	0.683762	0.67416	0	.	.	3.54	-3.65	0.04212	-0.151000	0.10160	-0.481000	0.08919	-0.102000	0.15922	0.474000	0.26753	0.000000	0.08366	0.638000	0.32368	0.429:0.0:0.3988:0.1722	4.583	0.11660	825	0.40060	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005539	0.010101	0.005435	0.002924	0.000000	0.000000	0.000000	0.011364	0.07143	448.83	33	chr2	233204361	.	G	A	448.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.18;DP=244;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.24;ReadPosRankSum=-0.86;SOR=0.689	GT:AD:DP:GQ:PL	0/1:39,23:62:99:459,0,892	6	0	1	0
chr2	233809144	233809144	C	T	exonic	MROH2A	.	nonsynonymous SNV	MROH2A:NM_001367507:exon22:c.C2314T:p.R772W	.	422	1095	5	0	0	5	0.0022779	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.121	.	.	0.00399361	0.0078	0	0	0.0062	0	0	0	0.0159	0.0010543	163	154602	rs76883884	0.0011	0.0011	0.0006	0.0016	0.0163	0.0011	0.0010	0.0156	0.0153	0.0003	5.605e-05	0.0001	0.0016	0	0.0007	0.0001	0.0012	0.0163	0.0006	0.0006	0.0003	0.0010	0.0141	0.0005	0.0005	0.0114	0.0104	4.816e-05	0	0	0	0.0037	0	0	7.351e-05	0.0009	0.0141	0.007	0.59928	D	0.002	0.79402	D	.	.	.	.	.	.	0.000730	0.42129	D	0.000000	0.529045	0.31960	D	.	.	.	5.06	0.01260	T	-3.08	0.63323	D	0.32	0.36043	-1.0113	0.26510	T	0.010	0.03537	T	8	0.0059551895	0.00134	T	.	.	.	0.121	0.33580	.	.	0.344483371355	0.34058	0.744572442843528	0.74403	2.46197207718E-4	0.00014	.	.	.	0.010023	0.09088	T	-0.449123	0.01143	T	-0.404285	0.32888	T	0.0431574080202563	0.04265	T	0.866613	0.58483	D	0.2818413	0.51224	0.187	0.41938	0.2818413	0.51224	0.187	0.41937	-4.981	0.36633	T	.	.	0.289	0.52102	B	.;.	.;.	4.112272	0.61406	24.3	0.99904921323087126	0.97576	0.43262	0.27059	N	AEFDBI	0.304810	0.41240	N	0.159889486143033	0.49280	3.130264	0.205842532344289	0.50170	3.21201	0.00531613413242797	0.10898	0.497415	0.19182	0	0.563428	0.19063	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.7	3.73	0.41982	0.279000	0.18532	0.158000	0.15372	0.580000	0.29708	0.999000	0.42656	0.957000	0.29195	0.998000	0.85391	0.4291:0.5709:0.0:0.0	10.393	0.43369	845	0.36510	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	813.49	35	chr2	233809144	.	C	T	813.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.304;DP=237;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.12;ReadPosRankSum=-1.254;SOR=0.804	GT:AD:DP:GQ:PL	0/1:30,32:62:99:824,0,723	6	0	1	0
chr2	236331453	236331453	C	T	exonic	IQCA1	.	nonsynonymous SNV	IQCA1:NM_001270584:exon17:c.G2156A:p.R719Q,IQCA1:NM_001270585:exon18:c.G2303A:p.R768Q,IQCA1:NM_024726:exon18:c.G2279A:p.R760Q	.	.	.	.	.	.	.	.	.	.	.	2431725	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.078	0.0535387855953	.	.	3.312e-05	0.0001	0	0.0002	0	0	0	6.057e-05	3.23e-05	5	154602	rs754197069	2.737e-05	2.736e-05	2.45e-05	3.026e-05	0.0001	2.063e-05	1.816e-05	4.358e-05	2.767e-05	5.974e-05	0.0001	0	7.557e-05	3.745e-05	0	1.889e-05	4.969e-05	4.637e-05	5.916e-05	5.91e-05	2.57e-05	9.42e-05	0.0004	3.078e-05	2.211e-05	0.0002	0.0001	0	0	0.0004	0	0.0002	0	0	2.94e-05	0	0	0.428	0.09600	T	0.567	0.08900	T	0.328	0.33195	B	0.018	0.18489	B	0.175788	0.17242	N	0.552403	0.999999	0.08975	N	.	.	.	-3.24	0.93474	D	0.05	0.06369	N	0.128	0.19190	-0.4533	0.70291	T	0.590	0.85338	D	10	0.05054134	0.04802	T	0.053539	0.65506	D	0.078	0.22779	0.514	0.61307	0.449572021084	0.44577	0.20375946211220733	0.20292	0.0829618324035	0.09358	0.23202341795	0.02121	T	0.003186	0.02586	T	-0.26393	0.12444	T	-0.352465	0.38923	T	0.0202165432274342	0.00721	T	0.708829	0.31953	T	0.028765352	0.02265	0.0294249	0.01280	0.028765352	0.02265	0.0294249	0.01280	-6.339	0.51433	T	.	.	0.073	0.05017	B	.;.;.	.;.;.	1.110595	0.14959	11.47	0.8824139314295476	0.17824	0.07614	0.13623	N	AEFGBI	0.076580	0.15408	N	-0.951609518573968	0.09657	0.4579778	-0.975318069891955	0.10341	0.5202307	0.0178514683925212	0.12996	0.638212	0.43195	0	0.59043	0.45803	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	5.23	2.42	0.28720	0.205000	0.17154	-0.150000	0.11428	-0.224000	0.07868	0.053000	0.21524	0.000000	0.08366	0.036000	0.13842	0.3301:0.5156:0.0:0.1543	5.676	0.17023	994	0.00715	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1103.49	33	chr2	236331453	.	C	T	1103.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.518;DP=243;ExcessHet=0;FS=3.353;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.54;ReadPosRankSum=0.107;SOR=0.617	GT:AD:DP:GQ:PL	0/1:26,45:71:99:1114,0,511	6	0	1	0
chr2	237346558	237346558	G	A	exonic	COL6A3	.	nonsynonymous SNV	COL6A3:NM_057166:exon29:c.C5216T:p.S1739L,COL6A3:NM_057167:exon31:c.C6419T:p.S2140L,COL6A3:NM_004369:exon32:c.C7037T:p.S2346L	Bethlem myopathy 1, Autosomal recessive, Autosomal dominant;Dystonia 27, Autosomal recessive;Ullrich congenital muscular dystrophy 1, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1440730	Bethlem_myopathy_1A	MONDO:MONDO:0024530,MedGen:CN029274,OMIM:158810,Orphanet:610	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.426	0.0816103432848	.	.	1.648e-05	9.61e-05	0	0	0	1.499e-05	0	0	1.29e-05	2	154602	rs377168716	8.212e-06	8.209e-06	8.171e-06	8.253e-06	0.0002	4.38e-06	3.46e-06	3.81e-06	2.76e-06	2.989e-05	0	0	0	0	0.0002	8.097e-06	1.657e-05	0	1.972e-05	1.97e-05	1.285e-05	2.691e-05	7.244e-05	5.24e-06	2.45e-06	1.921e-05	1.032e-05	7.244e-05	0	0	0	0	0	0	0	0	0	0.009	0.58626	D	0.004	0.74150	D	0.986	0.77913	D	0.552	0.65913	P	0.021015	0.26919	N	0.175132	0.998831	0.45528	D	0.72	0.18721	N	-3.39	0.94210	D	-3.0	0.62343	D	0.387	0.45709	0.628	0.92271	D	0.799	0.93195	D	10	0.39258412	0.54998	T	0.08161	0.73720	D	0.426	0.73372	0.282	0.23801	0.909329193511	0.90842	0.40442166709223754	0.40358	0.13049011374	0.14724	0.57220774889	0.48989	T	0.307368	0.83198	T	0.032179	0.56014	T	-0.0100257	0.69683	D	0.62727302312851	0.37505	D	0.927007	0.73951	D	0.19752401	0.41621	0.19411986	0.43018	0.19752401	0.41621	0.19411986	0.43017	-3.242	0.13000	T	0.5211673070833667	0.59341	0.198	0.42067	B	.;.;.;.;.	.;.;.;.;.	5.327760	0.89412	30	0.99824619597150344	0.90677	0.96884	0.71464	D	AEFBI	0.768622	0.70413	D	0.438194525061792	0.63537	4.589278	0.487170576514943	0.67140	5.044178	0.99999999999994	0.74766	0.615465	0.37627	0	0.563428	0.19063	0	0.658983	0.55881	0	0.530356	0.10902	0	.	.	5.23	5.23	0.72570	5.375000	0.65926	11.780000	0.96086	0.676000	0.76740	0.997000	0.40164	1.000000	0.68203	0.982000	0.59238	0.0:0.0:1.0:0.0	19.197	0.93679	955	0.09969	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.07143	913.44	40	chr2	237346558	.	G	A	913.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.906;DP=275;ExcessHet=0;FS=0.855;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.02;ReadPosRankSum=-1.892;SOR=0.584	GT:AD:DP:GQ:PL	0/1:35,41:76:99:924,0,778	6	0	1	0
chr2	238239895	238239895	G	T	exonic	HES6	.	nonsynonymous SNV	HES6:NM_001142853:exon1:c.C11A:p.P4H,HES6:NM_001282434:exon1:c.C11A:p.P4H,HES6:NM_018645:exon1:c.C11A:p.P4H	.	436	1083	3	0	0	3	0.00138313	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.984786447887	.	.	0.0002	0	0	0	0	0.0002	0	0.0011	2.59e-05	4	154602	rs772580239	2.593e-05	2.873e-05	2.829e-05	2.333e-05	0.0006	1.798e-05	1.548e-05	0.0001	4.731e-05	0	0	0	0	0	0.0006	2.618e-05	4.695e-05	0	5.961e-05	5.91e-05	3.885e-05	8.134e-05	0.0002	3.1e-05	2.226e-05	4.792e-05	3.357e-05	0	0	6.588e-05	0	0	0	0	0.0001	0	0.0002	0.493	0.78490	T	0.049	0.69154	D	0.34	0.64070	B	0.051	0.57829	B	0.259460	0.03699	U	2.460460	1	0.08975	N	0.805	0.20218	L	2.31	0.73739	T	-0.94	0.82141	N	0.184	0.19995	-0.7461	0.58138	T	0.301	0.67176	T	10	0.14072233	0.26745	T	0.984786	0.99928	D	0.086	0.25016	.	.	0.584180466826	0.58090	0.15051144382603626	0.14973	0.572525695287	0.53339	0.796118199825	0.81372	T	0.054577	0.29763	T	-0.187747	0.22589	T	-0.303862	0.44316	T	0.0989087151762528	0.12237	T	0.622038	0.24588	T	0.16119692	0.36112	0.06540163	0.13249	0.16119692	0.36111	0.06540163	0.13249	-7.239	0.57709	T	.	.	0.114	0.44758	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.274746	0.16738	12.73	0.96371517950641061	0.29587	0.62532	0.31810	D	AEFGBHCI	0.094077	0.19027	N	-0.878413666408233	0.11357	0.5476482	-1.05381155871104	0.08627	0.4251329	0.999999999999977	0.74766	0.72623	0.87236	0	0.552344	0.17405	0	0.594344	0.31042	0	0.554799	0.18163	0	.	.	2.52	-3.9	0.03904	0.749000	0.25985	2.275000	0.31858	0.451000	0.21329	0.001000	0.13787	0.921000	0.28324	0.025000	0.12405	0.1698:0.1614:0.5058:0.163	1.965	0.03187	878	0.29785	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	90.83	17	chr2	238239895	.	G	T	90.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.593;DP=123;ExcessHet=0;FS=7.782;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.09;ReadPosRankSum=1.18;SOR=0.027	GT:AD:DP:GQ:PL	0/1:5,4:9:99:101,0,168	6	0	1	0
chr2	240933245	240933245	C	T	exonic	CROCC2	.	nonsynonymous SNV	CROCC2:NM_001351305:exon10:c.C1366T:p.R456W	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs572265784	7.016e-05	6.704e-05	7.345e-05	6.678e-05	0.0008	5.89e-05	5.412e-05	0.0005	0.0005	3.168e-05	0	0	0.0008	0	0	3.894e-05	0.0005	0	0.0001	0.0001	0.0001	0.0001	0.0021	8.664e-05	7.256e-05	0.0012	0.0009	0.0002	0	6.542e-05	0	0.0021	0	0	1.47e-05	0	0	.	.	.	0.004	0.74150	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.11626	-1.0017	0.29430	T	0.064	0.26527	T	5	0.018404782	0.00400	T	.	.	.	.	.	.	.	0.18274738541	0.17906	0.06723897616985833	0.06661	.	.	.	.	.	0.059109	0.31027	T	-0.622388	0.00106	T	-0.665978	0.07868	T	0.033722191806411	0.02591	T	.	.	.	0.06949182	0.15229	0.049716365	0.07653	0.06949182	0.15229	0.049716365	0.07652	-4.367	0.29106	T	.	.	0.088	0.11797	B	.	.	0.690768	0.10591	7.299	0.99261894354848823	0.57255	0.00442	0.02154	N	AEFDBI	0.068558	0.13530	N	-0.867795682212237	0.11615	0.561466	-1.1182151648758	0.07352	0.3572938	0.449796785464424	0.20529	0.517182	0.21443	0	0.59043	0.45803	0	0.478664	0.07449	1	0.613276	0.41899	0	.	.	0.624	-0.599	0.11062	-2.461000	0.01075	0.236000	0.16249	-1.143000	0.01438	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.3911:0.3396:0.2692	2.292	0.03888	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	195.53	32	chr2	240933245	.	C	T	195.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.43;DP=211;ExcessHet=0;FS=1.556;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=6.11;ReadPosRankSum=0.966;SOR=0.721	GT:AD:DP:GQ:PL	0/1:23,9:32:99:206,0,523	6	0	1	0
chr2	241096064	241096078	GTCATCCTCATCATT	-	exonic	MTERF4	.	nonframeshift deletion	MTERF4:NM_001330179:exon3:c.502_516del:p.N168_D172del,MTERF4:NM_182501:exon4:c.1066_1080del:p.N356_D360del	.	417	1099	5	1	0	7	0.0031746	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0159	.	0.0011	0.0035	8.648e-05	0.0001	0	0.0002	0.0011	0.0047	0.0008344	129	154602	rs745932546	0.0006	0.0006	0.0005	0.0007	0.0053	0.0005	0.0005	0.0049	0.0048	0.0040	0.0002	0	5.04e-05	3.744e-05	0.0014	0.0002	0.0008	0.0053	0.0012	0.0012	0.0012	0.0012	0.0060	0.0011	0.0010	0.0043	0.0037	0.0035	0	0.0003	0	0	0	0	0.0001	0.0014	0.0060	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1209.4	34	chr2	241096063	.	CGTCATCCTCATCATT	C	1209.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.172;DP=271;ExcessHet=0;FS=0.939;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=18.05;ReadPosRankSum=-0.692;SOR=0.527	GT:AD:DP:GQ:PL	0/1:33,34:67:99:1220,0,1140	6	0	1	0
chr3	15003967	15003967	C	G	exonic	NR2C2	.	nonsynonymous SNV	NR2C2:NM_001291694:exon2:c.C53G:p.A18G,NR2C2:NM_003298:exon2:c.C53G:p.A18G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.348	0.0295345532005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.189e-05	0.0009	5.651e-05	4.724e-05	5.923e-05	4.24e-05	3.867e-05	4.761e-05	4.337e-05	3.02e-05	0	3.857e-05	2.528e-05	0	0	5.923e-05	6.69e-05	3.495e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.42199	T	0.088	0.63109	T	0.0	0.02946	B	0.0	0.01387	B	0.002953	0.35672	N	0.313188	0.869993	0.35545	D	-0.14	0.04484	N	-3.3	0.93787	D	-1.5	0.68764	N	0.324	0.36464	0.217	0.86200	D	0.665	0.88392	D	10	0.1999422	0.36022	T	0.029535	0.52028	D	0.348	0.66956	0.082	0.00727	0.202312658747	0.19855	0.13027040555393532	0.12952	0.343984992891	0.36322	0.632090747356	0.57442	T	0.163841	0.50907	T	0.0950387	0.63753	D	-0.10126	0.63300	T	0.647998213768005	0.38376	D	0.841416	0.51891	T	0.14685042	0.33598	0.112335265	0.27105	0.14685042	0.33597	0.112335265	0.27104	-2.954	0.13971	T	.	.	0.074	0.62122	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.397345	0.47066	22.4	0.98891559513655258	0.48019	0.95884	0.66568	D	AEFBI	0.571784	0.57563	D	-0.0193053131226323	0.40981	2.443305	0.183621717806624	0.48950	3.104215	0.999976298748313	0.50053	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	5.31	5.31	0.75063	4.784000	0.62103	7.643000	0.63297	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	18.577	0.91115	588	0.69043	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4167	1660.79	141	chr3	15003967	.	C	G	1660.79	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-4.208;DP=1071;ExcessHet=6.1542;FS=258.487;MLEAC=5;MLEAF=0.417;MQ=60;MQRankSum=0;QD=1.78;ReadPosRankSum=1.42;SOR=10.961	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:70,26:96:99:0|1:15003967_C_G:144,0,1944:15003967	1	0	5	1
chr3	32238980	32238980	A	G	exonic	CMTM8	.	nonsynonymous SNV	CMTM8:NM_001320308:exon1:c.A8G:p.E3G,CMTM8:NM_178868:exon1:c.A8G:p.E3G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.0666842640057	.	.	0.0002	0	0	0	0	0	0	0.0004	3.23e-05	5	154602	rs752460220	4.582e-05	4.583e-05	1.554e-05	7.693e-05	0.0008	3.672e-05	3.342e-05	0.0006	0.0006	0	0	0	0	0	0	0	1.727e-05	0.0008	6.581e-06	6.568e-06	0	1.348e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.004	0.65419	D	0.01	0.65728	D	0.0	0.02946	B	0.001	0.04355	B	0.009973	0.30121	N	0.230716	0.998701	0.21971	N	0.345	0.11182	N	1.42	0.33189	T	-2.09	0.47683	N	0.159	0.20925	-1.0462	0.15476	T	0.030	0.13111	T	10	0.05292791	0.05403	T	0.066684	0.69947	D	0.092	0.26621	0.185	0.09388	0.043077524339	0.03247	0.5966948057558407	0.59599	0.263852819548	0.28942	0.710019111633	0.68596	T	0.020375	0.16057	T	-0.458392	0.01006	T	-0.551286	0.17203	T	0.114572862119133	0.13891	T	0.554445	0.19192	T	0.1726201	0.37964	0.06868577	0.14378	0.1726201	0.37963	0.06868577	0.14377	-3.691	0.35294	T	.	.	0.102	0.18037	B	.;.	.;.	3.377811	0.46710	22.3	0.9847211419617109	0.41873	0.69696	0.34290	D	AEFDBCIJ	0.326865	0.42800	N	-0.729179870943886	0.15205	0.7642414	-0.589643035496924	0.19761	1.061773	0.999999626142716	0.74766	0.72623	0.87236	0	0.491552	0.07993	0	0.594344	0.31042	0	0.249971	0.05119	0	.	.	4.37	3.19	0.35720	2.003000	0.40464	7.173000	0.57731	-0.196000	0.09079	0.998000	0.41325	1.000000	0.68203	0.003000	0.05239	0.5991:0.1585:0.089:0.1533	2.252	0.03798	940	0.13648	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	308.63	37	chr3	32238980	.	A	G	308.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.41;DP=220;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.96;ReadPosRankSum=-0.199;SOR=0.628	GT:AD:DP:GQ:PL	0/1:17,14:31:99:319,0,357	6	0	1	0
chr3	37282200	37282200	C	A	exonic	GOLGA4	.	nonsynonymous SNV	GOLGA4:NM_002078:exon3:c.C405A:p.N135K,GOLGA4:NM_001172713:exon4:c.C471A:p.N157K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.0119737975296	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.57480	D	0.123	0.49942	T	0.062	0.38060	B	0.039	0.35118	B	0.877804	0.08777	N	0.931136	0.983227	0.27909	N	0.55	0.14455	N	1.95	0.22474	T	-1.49	0.56945	N	0.57	0.59308	-1.0342	0.19109	T	0.031	0.13199	T	10	0.13744512	0.26145	T	0.011974	0.30115	T	0.052	0.14661	0.15	0.05339	0.279776271856	0.27574	0.13079940607180884	0.13004	0.118871765248	0.13383	0.313676714897	0.12462	T	0.084963	0.37395	T	-0.214744	0.18716	T	-0.546242	0.17689	T	0.40140238404274	0.28995	T	0.955704	0.85511	D	0.16793872	0.37220	0.10552887	0.25370	0.16793872	0.37220	0.10552887	0.25369	-5.657	0.44312	T	.	.	0.407	0.64559	A	.;.;.;.;.	.;.;.;.;.	3.169477	0.42975	21.6	0.99347122215174777	0.60412	0.88913	0.49076	D	AEFDGBI	0.354588	0.44661	N	-0.407615109159159	0.25201	1.366345	-0.237076527137239	0.30219	1.69959	0.999991460771833	0.74766	0.722319	0.85440	0	0.724815	0.89359	0	0.709663	0.75317	0	0.735409	0.98432	0	.	.	5.71	2.42	0.28720	1.728000	0.37727	2.186000	0.31169	-0.313000	0.06017	0.989000	0.36753	0.980000	0.30356	0.988000	0.63387	0.0:0.7078:0.1275:0.1647	8.730	0.33657	281	0.88893	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	736.44	36	chr3	37282200	.	C	A	736.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.161;DP=264;ExcessHet=0;FS=4.642;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.09;ReadPosRankSum=-0.15;SOR=1.259	GT:AD:DP:GQ:PL	0/1:41,32:73:99:747,0,1022	6	0	1	0
chr3	38122376	38122376	C	T	exonic	DLEC1	.	nonsynonymous SNV	DLEC1:NM_007337:exon36:c.C5108T:p.P1703L	Esophageal cancer, Autosomal dominant;Lung cancer, Autosomal recessive	9	1499	14	0	0	14	0.00464807	.	.	.	2395039	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.054	0.0247226744546	0.0004	0.000599042	0.0007	0	0.0013	0	0	0.0008	0.0022	0.0007	0.0007244	112	154602	rs190570989	0.0006	0.0006	0.0006	0.0007	0.0055	0.0006	0.0006	0.0040	0.0035	5.974e-05	0.0012	0.0021	0	0	0.0055	0.0006	0.0010	0.0010	0.0008	0.0008	0.0008	0.0009	0.0016	0.0007	0.0007	0.0011	0.0010	9.629e-05	0.0340	0.0016	0.0026	0.0002	0	0.0102	0.0007	0.0009	0.0012	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.431634	0.04707	N	1.479730	1	0.81001	D	.	.	.	3.39	0.05710	T	-0.8	0.22078	N	0.149	0.15187	-0.8513	0.51878	T	0.006	0.02093	T	9	0.0025693178	0.00039	T	0.024723	0.47706	T	0.054	0.15330	.	.	0.225902525712	0.22197	.	.	.	.	0.236817792058	0.02510	T	.	.	.	-0.466795	0.00890	T	-0.493736	0.22999	T	0.0173109384313287	0.00471	T	0.370463	0.08742	T	.	.	.	.	.	.	.	.	-3.195	0.12419	T	.	.	0.078	0.07036	B	.	.	-0.455809	0.02013	0.179	0.8672686767341371	0.16731	0.04633	0.10299	N	AEFDBCI	0.021723	0.01000	N	-1.32448913178581	0.03397	0.1516656	-1.34473369737358	0.03868	0.1813221	0.999820810359557	0.43622	0.372202	0.05800	0	0.379588	0.06130	0	0.463624	0.06942	0	0.714379	0.83352	0	.	.	4.86	-4.02	0.03764	-2.868000	0.00791	-8.131000	0.01023	-0.140000	0.12423	0.000000	0.06391	0.000000	0.08366	0.870000	0.41412	0.3094:0.2991:0.1095:0.2821	0.950	0.01287	553	0.71930	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.007049	0.000000	0.006793	0.011696	0.000000	0.000000	0.012195	0.007576	0.07143	455.46	33	chr3	38122376	.	C	T	455.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.633;DP=228;ExcessHet=0;FS=4.029;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.3;ReadPosRankSum=2.08;SOR=1.292	GT:AD:DP:GQ:PL	0/1:30,19:49:99:466,0,758	6	0	1	0
chr3	38138731	38138731	G	A	exonic	MYD88	.	nonsynonymous SNV	MYD88:NM_001172566:exon1:c.G31A:p.A11T,MYD88:NM_001172567:exon1:c.G31A:p.A11T,MYD88:NM_001172568:exon1:c.G31A:p.A11T,MYD88:NM_001172569:exon1:c.G31A:p.A11T,MYD88:NM_001365876:exon1:c.G31A:p.A11T,MYD88:NM_001365877:exon1:c.G31A:p.A11T,MYD88:NM_001374787:exon1:c.G31A:p.A11T,MYD88:NM_002468:exon1:c.G31A:p.A11T	Macroglobulinemia, Waldenstrom, somatic;Pyogenic bacterial infections, recurrent, due to MYD88 deficiency	.	.	.	.	.	.	.	.	.	.	1889489	Pyogenic_bacterial_infections_due_to_MyD88_deficiency	MONDO:MONDO:0012839,MedGen:C2677092,OMIM:612260,Orphanet:183713	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.053	0.0303322237056	.	.	8.996e-06	0	0	0	0	1.661e-05	0	0	1.29e-05	2	154602	rs768025686	9.624e-06	9.577e-06	6.829e-06	1.246e-05	0.0003	5.59e-06	4.37e-06	6.121e-05	2.532e-05	0	0	0	0	0	0.0003	9.93e-06	1.663e-05	0	1.314e-05	1.313e-05	0	2.689e-05	.	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0.0032	0	0.0005	0	0.085	0.41096	T	0.504	0.57104	T	0.003	0.12996	B	0.001	0.08700	B	0.254439	0.03668	N	1.544760	1	0.08975	N	2.215	0.62545	M	0.29	0.58897	T	-0.91	0.26843	N	0.106	0.09066	-1.0216	0.23195	T	0.176	0.52084	T	10	0.065250576	0.08776	T	0.030332	0.52661	D	0.053	0.14996	0.12	0.02719	0.487670455057	0.48399	.	.	1.0665472346	0.76640	0.623630702496	0.56242	T	0.016631	0.41682	T	-0.21703	0.18401	T	-0.549525	0.17372	T	0.123189359903336	0.14739	T	0.594241	0.21993	T	0.017099073	0.00246	0.044823907	0.05893	0.017099073	0.00245	0.044823907	0.05892	-5.001	0.36851	T	.	.	0.081	0.10208	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	0.919264	0.12937	9.449	0.98197280065760839	0.39088	0.63949	0.32250	D	ALL	0.117443	0.23007	N	-0.839685246701166	0.12304	0.5989521	-0.906049405217592	0.11950	0.6119838	0.999999999998919	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.504199	0.09095	0	0.56214	0.19341	0	.	.	3.94	2.1	0.26226	1.132000	0.31031	0.033000	0.13759	0.676000	0.76740	0.002000	0.15269	0.000000	0.08366	0.002000	0.04165	0.2596:0.0:0.7404:0.0	5.62	0.16731	553	0.71930	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	718.46	36	chr3	38138731	.	G	A	718.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.471;DP=259;ExcessHet=0;FS=4.47;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.21;ReadPosRankSum=-0.612;SOR=1.223	GT:AD:DP:GQ:PL	0/1:45,33:78:99:729,0,1093	6	0	1	0
chr3	40532503	40532503	C	T	exonic	ZNF621	.	nonsynonymous SNV	ZNF621:NM_001098414:exon5:c.C733T:p.R245C,ZNF621:NM_198484:exon5:c.C733T:p.R245C	.	409	1111	1	1	0	3	0.00134831	.	.	.	2450718	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.093	0.0105764233372	7.7e-05	.	5.776e-05	0	0	0	0	3e-05	0	0.0003	4.53e-05	7	154602	rs144763141	3.352e-05	3.352e-05	2.45e-05	4.263e-05	0.0003	2.566e-05	2.312e-05	0.0002	0.0001	2.987e-05	0	0	2.519e-05	1.872e-05	0.0003	1.888e-05	1.656e-05	0.0003	1.974e-05	1.971e-05	2.572e-05	1.348e-05	2.942e-05	5.25e-06	2.46e-06	4.88e-06	1.83e-06	2.418e-05	0	0	0	0	0	0	2.942e-05	0	0	0.058	0.40832	T	0.114	0.43721	T	0.999	0.77913	D	0.892	0.63276	P	0.038765	0.24247	N	0.206892	1	0.81001	D	1.055	0.26876	L	2.21	0.18414	T	-2.67	0.57110	D	0.148	0.42834	-1.1430	0.01250	T	0.065	0.26983	T	10	0.08038193	0.13041	T	0.010576	0.27281	T	0.093	0.26882	.	.	0.346768085243	0.34289	0.08950968589840287	0.08883	0.24933086748	0.27507	0.516411542892	0.41121	T	0.073298	0.34664	T	-0.403261	0.02204	T	-0.52084	0.20210	T	0.0532964683713713	0.06069	T	0.420158	0.11156	T	0.06895996	0.15067	0.07500313	0.16467	0.06895996	0.15067	0.07500313	0.16466	-7.468	0.57385	T	.	.	0.478	0.63576	A	.;.;.	.;.;.	2.119494	0.26979	17.30	0.92877576589522604	0.22425	0.40359	0.26419	N	AEFBHCI	0.102554	0.20570	N	-0.528349940173134	0.21168	1.121397	-0.585437123013457	0.19873	1.068174	0.0115751362791685	0.12205	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	3.94	3.06	0.34374	-1.372000	0.02677	-8.140000	0.01021	-1.917000	0.00510	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.8967:0.0:0.1033	9.892	0.40463	744	0.52588	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1002.63	34	chr3	40532503	.	C	T	1002.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.41;DP=272;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.73;ReadPosRankSum=-0.199;SOR=0.715	GT:AD:DP:GQ:PL	0/1:34,39:73:99:1013,0,756	6	0	1	0
chr3	41705058	41705058	G	A	exonic	ULK4	.	nonsynonymous SNV	ULK4:NM_001322501:exon26:c.C1874T:p.T625M,ULK4:NM_001322500:exon27:c.C2780T:p.T927M,ULK4:NM_017886:exon27:c.C2780T:p.T927M	.	462	1052	7	1	0	9	0.00425935	0.9195	0.618	.	2366137	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.211	0.0271901580581	0.0003	0.000399361	0.0005	0	0	0	0.0002	0.0007	0	0.0007	0.000401	62	154602	rs201639701	0.0004	0.0004	0.0004	0.0004	0.0046	0.0004	0.0004	0.0032	0.0028	3.019e-05	6.889e-05	0	0	0.0001	0.0046	0.0004	0.0004	0.0012	0.0002	0.0002	0.0002	0.0003	0.0017	0.0002	0.0002	0.0008	0.0006	4.815e-05	0	6.536e-05	0	0	0.0004	0.0102	0.0002	0.0014	0.0017	0.038	0.42783	D	0.118	0.36233	T	0.992	0.64738	D	0.687	0.53665	P	0.114653	0.19267	U	0.452872	0.999894	0.50595	D	1.04	0.26193	L	-0.18	0.65747	T	-1.35	0.33598	N	0.675	0.68255	-0.5427	0.67062	T	0.255	0.62575	T	10	0.21222398	0.37675	T	0.02719	0.50027	D	0.211	0.50185	.	.	0.787557877294	0.78558	0.6274790581813261	0.62680	0.12484797569	0.14065	0.532669663429	0.43410	T	0.006138	0.05579	T	-0.218333	0.18221	T	-0.161811	0.58188	T	0.0873838773337145	0.10904	T	0.833117	0.50161	T	0.07644654	0.17289	0.14198221	0.33794	0.07644654	0.17288	0.14198221	0.33793	-4.293	0.28079	T	.	.	0.105	0.19073	B	.	.	5.145103	0.86152	28.8	0.99769695853680596	0.85750	0.97217	0.73382	D	AEFBI	0.734429	0.68056	D	0.418418943431622	0.62436	4.459353	0.418608260642314	0.62723	4.492773	0.990330232118494	0.32118	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.12	5.12	0.69459	7.233000	0.77589	8.450000	0.77217	0.595000	0.32841	1.000000	0.71638	1.000000	0.68203	0.956000	0.50813	0.0:0.0:1.0:0.0	18.558	0.91046	829	0.39537	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	380.49	9	chr3	41705058	.	G	A	380.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.932;DP=153;ExcessHet=0;FS=1.603;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.22;ReadPosRankSum=-2.068;SOR=0.412	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:9,16:25:99:0|1:41705035_T_C:391,0,174:41705035	6	0	1	0
chr3	41883918	41883918	C	T	exonic	ULK4	.	nonsynonymous SNV	ULK4:NM_001322501:exon16:c.G706A:p.A236T,ULK4:NM_001322500:exon17:c.G1612A:p.A538T,ULK4:NM_017886:exon17:c.G1612A:p.A538T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.190	0.0573237814916	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.68238	D	0.004	0.74150	D	1.0	0.90584	D	0.98	0.74843	D	0.000000	0.84330	D	0.000000	0.870001	0.35545	D	2.7	0.79018	M	-0.35	0.68616	T	-2.35	0.54702	N	0.515	0.54584	-0.1924	0.77867	T	0.411	0.75943	T	10	0.51086336	0.62088	D	0.057324	0.66924	D	0.190	0.46781	0.261	0.20473	0.804707843341	0.80287	0.36753973831674386	0.36667	0.146180406376	0.16504	0.539968490601	0.44441	T	0.005359	0.22093	T	0.0634667	0.60045	T	-0.146611	0.59543	T	0.96517151594162	0.67185	D	0.89671	0.64041	D	0.23666409	0.46520	0.23800609	0.49112	0.23666409	0.46520	0.23800609	0.49111	-7.138	0.55035	T	.	.	0.275	0.50844	B	.;.	.;.	4.406346	0.68124	25.2	0.99918692982391422	0.98586	0.84995	0.44094	D	AEFHI	0.384410	0.46555	N	0.520891896961532	0.68327	5.20187	0.461819594961579	0.65481	4.829039	0.846180964441765	0.24957	0.638212	0.43195	0	0.670034	0.63936	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	4.54	4.54	0.55220	4.341000	0.59117	7.458000	0.59026	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.969000	0.54022	0.0:1.0:0.0:0.0	13.128	0.58782	673	0.60677	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	84.49	28	chr3	41883918	.	C	T	84.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.5;DP=188;ExcessHet=0;FS=2.43;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.45;ReadPosRankSum=-1.718;SOR=1.609	GT:AD:DP:GQ:PL	0/1:6,4:10:95:95,0,118	6	0	1	0
chr3	42263587	42263587	G	A	exonic	CCK	.	nonsynonymous SNV	CCK:NM_001174138:exon2:c.C44T:p.A15V,CCK:NM_000729:exon4:c.C44T:p.A15V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.016671911027	.	.	2.255e-05	0	0	0	0	0	0	0.0002	1.29e-05	2	154602	rs745739227	8.936e-06	8.893e-06	6.833e-06	1.106e-05	0.0001	4.99e-06	3.84e-06	8.054e-05	6.28e-05	3.001e-05	0	0	0	0	0	0	0	0.0001	1.97e-05	1.97e-05	1.284e-05	2.689e-05	0.0004	5.24e-06	2.45e-06	7.285e-05	3.027e-05	2.411e-05	0	0	0	0	0	0	0	0	0.0004	0.072	0.34982	T	0.044	0.49663	D	0.04	0.21238	B	0.012	0.16012	B	0.000024	0.55875	N	0.159954	0.824363	0.28842	N	1.555	0.39373	L	1.86	0.24285	T	-2.97	0.61865	D	0.1	0.08227	-1.0709	0.09216	T	0.047	0.20037	T	10	0.25341752	0.42708	T	0.016672	0.38036	T	0.071	0.20720	0.738	0.87063	0.465721554213	0.46197	0.39190270885336775	0.39105	0.860827919292	0.68953	0.516302704811	0.41106	T	0.291433	0.66419	T	-0.381847	0.03033	T	-0.549604	0.17364	T	0.477042585611343	0.31789	T	0.674133	0.28269	T	0.10953241	0.25895	0.20193572	0.44197	0.10953241	0.25895	0.20193572	0.44196	-3.54	0.16996	T	.	.	0.125	0.26514	B	.;.;.	.;.;.	2.220475	0.28336	17.76	0.9903715115542342	0.50939	0.85652	0.44808	D	AEFDBHCIJ	0.261635	0.37955	N	-0.51091467498108	0.21726	1.155134	-0.497890256133891	0.22212	1.205347	0.999999999858222	0.74766	0.446893	0.09132	0	0.563428	0.19063	0	0.503968	0.08637	0	0.530356	0.10902	0	.	.	5.26	3.47	0.38831	1.683000	0.37256	0.931000	0.22780	-0.111000	0.15049	0.965000	0.33920	0.355000	0.24491	0.010000	0.09038	0.1528:0.0:0.8472:0.0	10.840	0.45916	727	0.54702	Gastrin/cholecystokinin peptide hormone;Gastrin/cholecystokinin peptide hormone;Gastrin/cholecystokinin peptide hormone	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	58.27	27	chr3	42263587	.	G	A	58.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.63;DP=168;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=3.64;ReadPosRankSum=-0.541;SOR=1.104	GT:AD:DP:GQ:PL	0/1:13,3:16:68:68,0,310	5	0	1	1
chr3	43711842	43711842	C	A	exonic	ABHD5	.	nonsynonymous SNV	ABHD5:NM_001355186:exon4:c.C640A:p.L214I,ABHD5:NM_001365649:exon4:c.C517A:p.L173I,ABHD5:NM_001365650:exon4:c.C640A:p.L214I,ABHD5:NM_016006:exon4:c.C640A:p.L214I	Chanarin-Dorfman syndrome, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	.	290388	Inborn_genetic_diseases|Triglyceride_storage_disease_with_ichthyosis	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0010155,MedGen:C0268238,OMIM:275630,Orphanet:98907	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.324	0.0305197381726	.	0.000399361	0.0001	0	0	0	0	1.498e-05	0	0.0010	0.0001423	22	154602	rs540791910	5.814e-05	5.814e-05	3.403e-05	8.25e-05	0.0008	4.809e-05	4.431e-05	0.0006	0.0006	0	0	0.0002	0	3.744e-05	0.0002	5.396e-06	0.0001	0.0008	5.91e-05	5.906e-05	6.424e-05	5.371e-05	0.0010	3.075e-05	2.209e-05	0.0004	0.0003	0	0	6.533e-05	0	0	0	0	4.41e-05	0	0.0010	0.273	0.15876	T	0.318	0.19246	T	0.247	0.31125	B	0.302	0.41118	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.26	0.31868	L	-2.02	0.85542	D	-0.33	0.12472	N	0.521	0.55106	-0.2331	0.76806	T	0.550	0.83527	D	10	0.09085736	0.15865	T	0.03052	0.52811	D	0.324	0.64624	0.568	0.69034	0.763320079665	0.76116	0.8373172614711547	0.83691	0.264439684571	0.28993	0.758934140205	0.75770	T	0.127594	0.45471	T	-0.160004	0.26758	T	-0.0805987	0.64860	T	0.116931962587775	0.14126	T	0.974353	0.90870	D	0.1782348	0.38832	0.19099104	0.42532	0.1782348	0.38831	0.19099104	0.42531	-5.539	0.42232	T	0.2524026807400575	0.34149	0.281	0.52135	B	.;.;.;.	.;.;.;.	3.114740	0.42032	21.5	0.99445397394655222	0.64971	0.96127	0.67656	D	AEFBCI	0.825039	0.74482	D	0.248194044523037	0.53550	3.523339	0.426944533064945	0.63251	4.555009	0.99999999999989	0.74766	0.732398	0.92422	0	0.708844	0.79440	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	6.17	6.17	0.99707	6.058000	0.70754	7.697000	0.66086	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	20.879	0.99870	709	0.56835	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	377.63	34	chr3	43711842	.	C	A	377.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.137;DP=220;ExcessHet=0;FS=1.342;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.21;ReadPosRankSum=0.228;SOR=0.99	GT:AD:DP:GQ:PL	0/1:25,16:41:99:388,0,629	6	0	1	0
chr3	47410500	47410500	C	A	exonic	PTPN23	.	nonsynonymous SNV	PTPN23:NM_001304482:exon19:c.C2324A:p.P775H,PTPN23:NM_015466:exon20:c.C2702A:p.P901H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.0146426269499	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.041	0.50514	D	0.015	0.17086	B	0.008	0.13708	B	0.003250	0.35212	N	0.187093	0.988848	0.40839	D	2.24	0.63355	M	4.05	0.03092	T	-1.26	0.31778	N	0.206	0.22870	-0.9224	0.45224	T	0.011	0.04227	T	10	0.10169113	0.18594	T	0.014643	0.34889	T	0.046	0.12618	0.316	0.29258	0.158540857583	0.15491	0.23645820506188525	0.23560	0.0676473337877	0.07564	0.439612746239	0.30524	T	0.236021	0.60341	T	-0.201964	0.20521	T	-0.527884	0.19497	T	0.244941458106041	0.22645	T	0.676832	0.28555	T	0.09390228	0.22065	0.090167135	0.21128	0.09390228	0.22065	0.090167135	0.21128	-6.154	0.47550	T	.	.	0.091	0.13268	B	.	.	2.526081	0.32649	19.11	0.95126756124010481	0.26232	0.64065	0.32287	D	AEFDBCI	0.150543	0.27486	N	-0.535995276618065	0.20924	1.10672	-0.485617000285072	0.22550	1.225294	0.999999851786416	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.36	4.36	0.51643	1.794000	0.38408	3.022000	0.36006	0.599000	0.40250	0.171000	0.23947	0.067000	0.22148	0.623000	0.31974	0.0:1.0:0.0:0.0	15.824	0.78459	20	0.98525	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1453.45	39	chr3	47410500	.	C	A	1453.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.8;DP=335;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=16.15;ReadPosRankSum=-0.452;SOR=0.626	GT:AD:DP:GQ:PL	0/1:33,57:90:99:1464,0,630	6	0	1	0
chr3	49013066	49013066	G	A	exonic	WDR6	.	nonsynonymous SNV	WDR6:NM_001320546:exon2:c.G1454A:p.R485H,WDR6:NM_001320547:exon2:c.G1379A:p.R460H,WDR6:NM_018031:exon2:c.G1532A:p.R511H	.	426	1092	4	0	0	4	0.00182815	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.684	0.143908924888	0.0008	0.000798722	0.0011	0.0004	0.0005	0	0.0003	0.0014	0.0011	0.0012	0.0010543	163	154602	rs142520902	0.0012	0.0012	0.0012	0.0012	0.0080	0.0011	0.0011	0.0062	0.0055	0.0006	0.0009	0.0003	2.523e-05	0.0006	0.0080	0.0012	0.0014	0.0016	0.0010	0.0010	0.0010	0.0010	0.0021	0.0009	0.0008	0.0011	0.0009	0.0005	0	0.0015	0	0	0.0006	0.0102	0.0012	0.0033	0.0021	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.982	0.88582	D	0.000000	0.84330	D	0.000000	0.999858	0.81001	D	1.79	0.46772	L	-0.22	0.90083	T	-4.71	0.79915	D	0.711	0.71765	0.782	0.94191	D	0.830	0.94313	D	10	0.16239479	0.30435	T	0.143909	0.82620	D	0.684	0.88443	.	.	0.920913373336	0.92011	0.8852919513013255	0.88498	0.858137607656	0.68846	0.743246555328	0.73450	T	0.152551	0.67814	T	-0.105573	0.35500	T	0.0454957	0.73287	D	0.0458476212297395	0.04755	T	0.877412	0.59112	D	0.45112568	0.64112	0.23708549	0.48997	0.45112568	0.64113	0.23708549	0.48996	-10.903	0.79123	D	.	.	0.895	0.82448	P	.;.;.;.	.;.;.;.	5.028960	0.83633	28.1	0.99936757636496798	0.99621	0.98134	0.79889	D	AEFDBCI	0.925463	0.90505	D	0.827740561056247	0.87805	9.347594	0.82317825321104	0.91357	10.845	0.999999999999895	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.49	5.49	0.81022	9.053000	0.93310	9.894000	0.82296	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	19.378	0.94508	0	0.99858	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004532	0.005051	0.001359	0.011696	0.000000	0.000000	0.003049	0.003788	0.07143	1115.44	43	chr3	49013066	.	G	A	1115.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.506;DP=292;ExcessHet=0;FS=0.818;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.12;ReadPosRankSum=1.48;SOR=0.556	GT:AD:DP:GQ:PL	0/1:40,45:85:99:1126,0,975	6	0	1	0
chr3	49718931	49718931	C	G	exonic	AMIGO3	.	nonsynonymous SNV	AMIGO3:NM_198722:exon1:c.G535C:p.G179R	.	0	225	1	0	0	1	0.00221729	.	.	.	3979638	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.082	0.0169838236895	7.7e-05	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs373111160	8.211e-06	8.209e-06	6.808e-06	9.629e-06	0.0002	4.38e-06	3.46e-06	3.09e-06	2.24e-06	0	0	0	0	0	0.0002	7.194e-06	3.312e-05	1.159e-05	1.314e-05	1.313e-05	2.569e-05	0	2.939e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0	0.004	0.65419	D	0.257	0.23231	T	0.577	0.38740	P	0.221	0.37837	B	0.043662	0.23716	N	0.481828	1	0.81001	D	1.24	0.30952	L	4.22	0.02640	T	0.26	0.04380	N	0.55	0.57604	-0.9399	0.42632	T	0.012	0.04700	T	10	0.43188748	0.57544	T	0.016984	0.38486	T	0.082	0.23913	.	.	0.603824409933	0.60065	0.439706321122401	0.43887	.	.	0.425559669733	0.28601	T	0.009211	0.08397	T	-0.126916	0.31997	T	-0.420083	0.31065	T	0.55486786365509	0.34660	D	0.69603	0.30552	T	0.13660002	0.31661	0.08750313	0.20343	0.13660002	0.31661	0.08750313	0.20342	-4.04	0.24400	T	.	.	0.250	0.48448	B	.	.	3.401005	0.47136	22.4	0.99809291613719542	0.89353	0.41101	0.26583	N	AEFDGBHCI	.	.	.	0.0185543843319353	0.42700	2.577677	0.0643862611296064	0.42772	2.593044	0.999999999993412	0.74766	0.789315	0.99827	0	0.581341	0.33841	0	0.768056	0.98339	0	0.600526	0.37237	0	.	.	5.21	5.21	0.72005	2.027000	0.40699	5.937000	0.51416	0.599000	0.40250	0.509000	0.27025	1.000000	0.68203	0.090000	0.17789	0.0:0.9129:0.0:0.0871	10.910	0.46314	1	0.99630	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1063.44	34	chr3	49718931	.	C	G	1063.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.166;DP=273;ExcessHet=0;FS=0.824;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.81;ReadPosRankSum=-0.73;SOR=0.741	GT:AD:DP:GQ:PL	0/1:39,44:83:99:1074,0,986	6	0	1	0
chr3	51944466	51944466	G	A	exonic	PARP3	.	nonsynonymous SNV	PARP3:NM_001003931:exon4:c.G389A:p.R130Q,PARP3:NM_001370240:exon4:c.G389A:p.R130Q,PARP3:NM_005485:exon4:c.G389A:p.R130Q,PARP3:NM_001370239:exon5:c.G389A:p.R130Q	.	.	.	.	.	.	.	.	.	.	.	4002126	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.023	0.00536081443067	.	.	1.657e-05	0	0	0	0	3e-05	0	0	1.29e-05	2	154602	rs778185003	6.225e-05	6.225e-05	6.262e-05	6.188e-05	7.734e-05	5.161e-05	4.78e-05	6.409e-05	5.91e-05	5.974e-05	0	0	5.038e-05	0	0	7.734e-05	1.656e-05	0	1.314e-05	1.313e-05	1.284e-05	1.345e-05	2.413e-05	2.18e-06	8.2e-07	.	.	2.413e-05	0	0	0	0	0	0	1.47e-05	0	0	0.438	0.14793	T	0.317	0.22154	T	0.004	0.16867	B	0.004	0.10090	B	0.046111	0.23471	N	0.473779	0.976986	0.25341	N	1.085	0.27262	L	2.22	0.18248	T	-0.5	0.19297	N	0.103	0.08786	-0.9937	0.31643	T	0.020	0.08453	T	10	0.053221583	0.05480	T	0.005361	0.13740	T	0.023	0.04649	.	.	0.252162846088	0.24830	0.2518949149987029	0.25103	0.0676534532402	0.07564	0.185866594315	0.00160	T	0.00526	0.04708	T	-0.375365	0.03331	T	-0.607834	0.12161	T	0.0241625860242272	0.01165	T	0.810819	0.46223	T	0.028555272	0.02212	0.064886846	0.13071	0.028555272	0.02211	0.064886846	0.13070	-6.783	0.52433	T	.	.	0.081	0.11317	B	.;.;.;.	.;.;.;.	1.636144	0.20887	14.95	0.94487637569417726	0.24949	0.62309	0.31742	D	AEFDBI	0.135887	0.25637	N	-1.042695297392	0.07731	0.3601569	-0.940540979183892	0.11142	0.5658904	0.999446133371307	0.39736	0.719381	0.83141	0	0.723133	0.82719	0	0.577349	0.28860	0	0.755437	0.99637	0	.	.	5.23	-0.827	0.10256	0.655000	0.24618	-0.420000	0.09290	-0.845000	0.02763	0.895000	0.31310	0.000000	0.08366	0.809000	0.38129	0.4777:0.0:0.5223:0.0	10.290	0.42771	266	0.89551	WGR domain|WGR domain;WGR domain|WGR domain;.;WGR domain|WGR domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	752.44	42	chr3	51944466	.	G	A	752.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.635;DP=270;ExcessHet=0;FS=0.912;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.9;ReadPosRankSum=-0.204;SOR=0.876	GT:AD:DP:GQ:PL	0/1:35,34:69:99:763,0,807	6	0	1	0
chr3	52794886	52794886	G	A	exonic	ITIH3	.	nonsynonymous SNV	ITIH3:NM_002217:exon1:c.G83A:p.R28Q	.	.	.	.	.	.	.	.	.	.	.	3972884	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.019	0.00566929870999	.	.	8.283e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs768027400	1.3e-05	1.3e-05	8.17e-06	1.788e-05	0.0001	8.32e-06	6.7e-06	3.983e-05	2.373e-05	0.0001	2.236e-05	0	2.519e-05	0	0	8.995e-06	4.969e-05	0	6.573e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.323	0.26519	T	0.457	0.21545	T	0.076	0.24253	B	0.005	0.11217	B	0.272681	0.15097	N	0.637307	1	0.08975	N	0	0.06538	N	4.21	0.02664	T	-0.91	0.24460	N	0.127	0.12055	-0.8983	0.48165	T	0.004	0.01365	T	10	0.05555588	0.06092	T	0.005669	0.14681	T	0.019	0.03383	0.426	0.47185	0.0986583533028	0.09354	0.3112294000128291	0.31035	0.121607008955	0.13703	0.239352524281	0.02732	T	0.019231	0.15359	T	-0.322245	0.06715	T	-0.637013	0.09888	T	0.0658691433709306	0.08059	T	0.773923	0.40554	T	0.030365486	0.02687	0.05436081	0.09337	0.030365486	0.02687	0.05436081	0.09336	-3.927	0.22708	T	.	.	0.096	0.15430	B	.;.;.	.;.;.	1.162022	0.15510	11.90	0.7004110771835198	0.09166	0.08672	0.14568	N	AEFDGBHCI	0.752369	0.69289	D	-1.79634191037613	0.00554	0.02386372	-1.75392280059826	0.00919	0.0410944	0.999999990246751	0.74766	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.89	-0.174	0.12665	0.044000	0.13876	-0.169000	0.11245	-1.700000	0.00758	0.022000	0.19841	0.000000	0.08366	0.036000	0.13842	0.231:0.0:0.519:0.25	5.118	0.14176	33	0.98110	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	389.63	27	chr3	52794886	.	G	A	389.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.68;DP=195;ExcessHet=0;FS=3.471;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.44;ReadPosRankSum=-0.722;SOR=1.501	GT:AD:DP:GQ:PL	0/1:14,15:29:99:400,0,300	6	0	1	0
chr3	64147033	64147033	A	G	exonic	PRICKLE2	.	nonsynonymous SNV	PRICKLE2:NM_001370528:exon7:c.T1457C:p.M486T,PRICKLE2:NM_198859:exon7:c.T1457C:p.M486T	.	.	.	.	.	.	.	.	.	.	.	828540	Progressive_myoclonic_epilepsy_type_5	MedGen:C5190799,Orphanet:402082	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.178	0.0200174936274	.	.	9.884e-05	0	0	0	0	0.0002	0	0	7.76e-05	12	154602	rs751661338	4.857e-05	4.857e-05	3.403e-05	6.325e-05	0.0002	3.926e-05	3.604e-05	4.699e-05	4.281e-05	2.987e-05	0	0	0	0	0.0002	5.845e-05	6.623e-05	0	6.576e-05	6.568e-05	6.427e-05	6.733e-05	0.0001	3.519e-05	2.618e-05	5.844e-05	4.24e-05	2.415e-05	0	0	0	0	9.427e-05	0	0.0001	0	0	.	.	.	.	.	.	0.167	0.28604	B	0.021	0.19346	B	0.000010	0.62929	D	0.116020	0.991069	0.41300	D	1.245	0.31408	L	.	.	.	.	.	.	.	.	-0.8894	0.48986	T	0.140	0.45847	T	10	0.14978996	0.28343	T	0.020017	0.42524	T	0.178	0.44724	0.214	0.13354	0.19168177325	0.18762	0.33151066347659736	0.33064	0.613628842955	0.55921	0.749597966671	0.74387	T	0.108831	0.42220	T	-0.189975	0.22262	T	-0.255617	0.49260	T	0.118764436352861	0.14309	T	0.727127	0.34152	T	0.21568662	0.44007	0.19201489	0.42692	0.21568662	0.44007	0.19201489	0.42691	-2.167	0.03883	T	0.08851255516455181	0.05313	0.153	0.45605	B	.;.;.	.;.;.	2.685914	0.35051	19.79	0.98213149675881917	0.39228	0.94582	0.61636	D	AEFBCI	0.699339	0.65672	D	0.086192425235938	0.45820	2.832143	0.257799063640607	0.53093	3.480179	0.999999524238184	0.74766	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.53	5.53	0.82530	6.030000	0.70548	9.422000	0.80760	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.9223:0.0:0.0777:0.0	9.808	0.39971	787	0.46738	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	611.44	33	chr3	64147033	.	A	G	611.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.298;DP=258;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.15;ReadPosRankSum=-0.108;SOR=0.651	GT:AD:DP:GQ:PL	0/1:45,30:75:99:622,0,1038	6	0	1	0
chr3	74285307	74285307	G	A	exonic	CNTN3	.	nonsynonymous SNV	CNTN3:NM_020872:exon19:c.C2702T:p.T901M	.	437	1079	6	0	0	6	0.00277264	0.0161	0.18	.	698288	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.090	.	0.0080	0.00359425	0.0095	0.0013	0.0024	0	0.0125	0.0143	0.0149	0.0031	0.0089197	1379	154602	rs141921900	0.0098	0.0097	0.0100	0.0095	0.0113	0.0096	0.0096	0.0111	0.0110	0.0011	0.0030	0.0017	0.0001	0.0131	0.0034	0.0113	0.0085	0.0030	0.0080	0.0081	0.0082	0.0079	0.0128	0.0077	0.0075	0.0121	0.0118	0.0015	0.0396	0.0053	0.0020	0	0.0138	0.0034	0.0128	0.0057	0.0015	0.034	0.44029	D	0.09	0.40267	T	0.004	0.12183	B	0.015	0.17295	B	0.001587	0.38554	N	0.290390	0.73933	0.33805	D	0.46	0.12951	N	0.56	0.54540	T	-1.36	0.33798	N	0.206	0.22870	-0.9641	0.38389	T	0.066	0.27364	T	10	0.004834354	0.00103	T	.	.	.	0.090	0.26093	.	.	0.494232246516	0.49056	0.38907339473874325	0.38822	0.24617174184	0.27154	0.451213866472	0.32110	T	0.123059	0.44716	T	-0.619003	0.00112	T	-0.650255	0.08936	T	0.018050021024756	0.00529	T	0.541746	0.18406	T	0.029654887	0.02495	0.059998732	0.11353	0.029654887	0.02494	0.059998732	0.11353	-5.225	0.39195	T	.	.	0.123	0.25753	B	.	.	3.708067	0.52926	23.3	0.98739609107162862	0.45482	0.94718	0.62091	D	AEFI	0.512489	0.54068	D	-0.535684375750678	0.20935	1.107315	-0.410120203248802	0.24700	1.354076	0.00135713156360695	0.08470	0.487112	0.14033	0	0.573888	0.26702	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	5.4	2.15	0.26590	3.830000	0.55469	4.270000	0.42842	-0.103000	0.15852	1.000000	0.71638	1.000000	0.68203	0.787000	0.37188	0.2572:0.0:0.7428:0.0	10.829	0.45853	933	0.16026	Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001007	0.000000	0.000000	0.000000	0.050000	0.000000	0.003049	0.000000	0.07143	459.53	33	chr3	74285307	.	G	A	459.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.644;DP=229;ExcessHet=0;FS=9.84;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.32;ReadPosRankSum=1.13;SOR=0.067	GT:AD:DP:GQ:PL	0/1:13,17:30:99:470,0,332	6	0	1	0
chr3	75730451	75730451	T	G	exonic	ZNF717	.	stoploss	ZNF717:NM_001324027:exon7:c.A2396C:p.X799S	.	432	314	768	8	0	784	0.555241	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000461	12	26028	rs75952318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	10882.8	91	chr3	75730451	.	T	G	10882.8	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-1.742;DP=592;ExcessHet=3.6764;FS=3.315;MLEAC=7;MLEAF=0.5;MQ=54.76;MQRankSum=-5.737;QD=20.57;ReadPosRankSum=0.391;SOR=0.483	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:28,30:58:99:0|1:75730450_C_T:1170,0,1085:75730450	1	1	5	0
chr3	75730611	75730611	G	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001324027:exon7:c.C2236A:p.L746I	.	434	899	189	0	0	189	0.0951183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0330413	860	26028	rs73841587	5.455e-06	4.771e-06	3.964e-06	6.718e-06	9.364e-05	1.45e-06	4e-07	2.481e-05	1.287e-05	0	0	0	9.364e-05	0	0	0	0	0	6.571e-06	6.567e-06	0	1.345e-05	.	0	0	.	.	0	0	0	0	0	9.418e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3571	667.31	49	chr3	75730611	.	G	T	667.31	.	AC=5;AF=0.357;AN=14;BaseQRankSum=1.38;DP=365;ExcessHet=4.7409;FS=65.71;MLEAC=5;MLEAF=0.357;MQ=56.75;MQRankSum=-7.384;QD=2.17;ReadPosRankSum=-2.389;SOR=6.224	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:28,4:32:77:.:.:77,0,1147:.	2	0	5	0
chr3	75736884	75736884	-	A	exonic	ZNF717	.	stoploss	ZNF717:NM_001128223:exon5:c.2738dupT:p.*915delinsLNTQPTPLWLLLQISPCSV*,ZNF717:NM_001290208:exon5:c.2738dupT:p.*915delinsLNTQPTPLWLLLQISPCSV*,ZNF717:NM_001290209:exon5:c.2588dupT:p.*865delinsLNTQPTPLWLLLQISPCSV*	.	408	790	324	0	0	324	0.170168	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0673505	1753	26028	rs149076283	2.008e-05	1.984e-05	1.697e-05	2.328e-05	2.801e-05	1.393e-05	1.199e-05	1.594e-05	1.347e-05	0	0	0	2.801e-05	0	0	2.322e-05	1.729e-05	1.281e-05	1.313e-05	1.312e-05	2.569e-05	0	2.939e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	2416.31	91	chr3	75736884	.	G	GA	2416.31	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-0.592;DP=725;ExcessHet=4.7409;FS=3.225;MLEAC=5;MLEAF=0.357;MQ=56.69;MQRankSum=-6.418;QD=4.13;ReadPosRankSum=1.28;SOR=0.472	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:44,17:61:99:0|1:75736884_G_GA:581,0,1796:75736884	2	0	5	0
chr3	75736891	75736891	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C2732T:p.S911F,ZNF717:NM_001290208:exon5:c.C2732T:p.S911F,ZNF717:NM_001290209:exon5:c.C2582T:p.S861F	.	413	564	544	0	1	545	0.325359	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.00165921998894	.	.	.	.	.	.	.	.	.	.	0.0107192	279	26028	rs77747132	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.42783	D	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.22	0.07024	T	-1.16	0.29727	N	0.094	0.07398	-0.9320	0.43844	T	0.010	0.03856	T	9	0.06138295	0.07688	T	0.001659	0.02728	T	0.061	0.17616	.	.	0.0138822411134	0.00435	0.004917126878572224	0.00463	.	.	0.422835052013	0.28227	T	.	.	.	-0.173524	0.24704	T	-0.487032	0.23703	T	0.330072145045039	0.26228	T	0.353565	0.07967	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.167	0.36732	B	.	.	1.343956	0.17510	13.20	0.99194171637765427	0.55083	0.00118	0.00744	N	AEFDBCI	0.022343	0.01105	N	-1.23987897260233	0.04434	0.2001198	-1.31939943106607	0.04180	0.1966005	0.999947639461096	0.47345	0.562547	0.31514	0	0.653731	0.59785	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.54	-0.734	0.10579	-0.650000	0.05477	.	.	0.542000	0.25261	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.3382:0.0:0.6618:0.0	5.509	0.16158	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4167	6117.79	97	chr3	75736891	.	G	A	6117.79	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-0.958;DP=732;ExcessHet=6.1542;FS=3.524;MLEAC=5;MLEAF=0.417;MQ=56.66;MQRankSum=-6.731;QD=9.98;ReadPosRankSum=1.2;SOR=0.473	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:45,17:62:99:0|1:75736884_G_GA:578,0,1838:75736884	1	0	5	1
chr3	75736920	75736920	C	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2703T:p.E901D,ZNF717:NM_001290208:exon5:c.G2703T:p.E901D,ZNF717:NM_001290209:exon5:c.G2553T:p.E851D	.	404	577	541	0	0	541	0.319174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.00110452594305	.	.	.	.	.	.	.	.	.	.	0.071231	1854	26028	rs111230396	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	0.14497	T	0.062	0.45318	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.23	0.06931	T	-1.02	0.26843	N	0.085	0.06190	-0.9483	0.41263	T	0.010	0.03627	T	9	0.058318764	0.06838	T	0.001105	0.01312	T	0.103	0.29403	.	.	0.0138822411134	0.00435	0.0015786287646668746	0.00145	.	.	0.445909142494	0.31386	T	.	.	.	-0.17615	0.24310	T	-0.490804	0.23306	T	0.0638085464059829	0.07754	T	0.121888	0.00944	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.23500	B	.	.	0.610910	0.09792	6.559	0.89825184067637265	0.19134	0.00196	0.01131	N	AEFDBCI	0.022523	0.01136	N	-1.22540343885655	0.04634	0.2095599	-1.32633955667091	0.04093	0.1923357	0.999959091878699	0.48110	0.562547	0.31514	0	0.653731	0.59785	0	0.634913	0.45138	1	0.264475	0.05362	3	.	.	0.741	-0.249	0.12368	1.331000	0.33398	.	.	0.482000	0.22156	0.001000	0.13787	0.000000	0.08366	0.002000	0.04165	0.0:0.6566:0.0:0.3434	3.115	0.05989	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4167	6023.79	105	chr3	75736920	.	C	A	6023.79	.	AC=5;AF=0.417;AN=12;BaseQRankSum=0.206;DP=769;ExcessHet=6.1542;FS=1.251;MLEAC=5;MLEAF=0.417;MQ=55.16;MQRankSum=-6.694;QD=9.3;ReadPosRankSum=0.441;SOR=0.559	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:55,15:70:99:0|1:75736884_G_GA:464,0,2264:75736884	1	0	5	1
chr3	75736928	75736928	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2695A:p.V899I,ZNF717:NM_001290208:exon5:c.G2695A:p.V899I,ZNF717:NM_001290209:exon5:c.G2545A:p.V849I	.	411	571	539	1	0	541	0.32145	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.00121036639884	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs74593105	0.0001	0.0002	0.0001	0.0001	0.0026	0.0001	0.0001	0.0016	0.0013	0.0008	8.267e-05	0	8.274e-05	0	0.0026	8.845e-05	0.0003	0.0004	0.0003	0.0003	0.0002	0.0003	0.0006	0.0002	0.0002	0.0004	0.0004	0.0006	0	0	0	0	0	0	0.0001	0	0.0006	0.38	0.11191	T	0.025	0.56192	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.32	0.06214	T	0.07	0.06138	N	0.026	0.00527	-0.9474	0.41414	T	0.008	0.02926	T	9	0.09491852	0.16914	T	0.00121	0.01583	T	0.112	0.31546	.	.	0.0138822411134	0.00435	7.206520044993825E-4	0.00066	.	.	0.389449685812	0.23592	T	.	.	.	-0.217344	0.18358	T	-0.549976	0.17329	T	0.104380803558879	0.12832	T	0.0709929	0.00518	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.08948	B	.	.	0.653467	0.10217	6.957	0.91771767316116259	0.21074	0.00105	0.00673	N	AEFDBCI	0.020476	0.00813	N	-1.22446334774296	0.04648	0.2101895	-1.31163951798627	0.04279	0.2014874	0.999941810098761	0.47345	0.562547	0.31514	0	0.653731	0.59785	0	0.634913	0.45138	1	0.264475	0.05362	3	.	.	1.29	0.364	0.15359	-0.265000	0.08671	.	.	0.482000	0.22156	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.7401:0.0:0.2599	3.729	0.08012	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4167	5966.79	110	chr3	75736928	.	C	T	5966.79	.	AC=5;AF=0.417;AN=12;BaseQRankSum=1.9;DP=764;ExcessHet=6.1542;FS=1.985;MLEAC=5;MLEAF=0.417;MQ=54.58;MQRankSum=-7.092;QD=9.27;ReadPosRankSum=-0.328;SOR=0.625	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:53,15:68:99:0|1:75736884_G_GA:470,0,2180:75736884	1	0	5	1
chr3	75736981	75736981	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2642G:p.Q881R,ZNF717:NM_001290208:exon5:c.A2642G:p.Q881R,ZNF717:NM_001290209:exon5:c.A2492G:p.Q831R	.	394	765	361	2	0	365	0.192612	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.000733824032747	.	.	.	.	.	.	.	.	.	.	0.0486399	1266	26028	rs75085872	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.534	0.06935	T	0.328	0.18675	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	5.46	0.00959	T	-0.86	0.23372	N	0.037	0.01135	-0.9235	0.45070	T	0.002	0.00526	T	9	0.048223555	0.04243	T	7.34E-4	0.00491	T	0.100	0.28662	.	.	0.0138822411134	0.00435	5.567766943860148E-4	0.00051	.	.	0.401793837547	0.25319	T	.	.	.	-0.241342	0.15177	T	-0.584447	0.14150	T	0.043195366142589	0.04273	T	0.0990901	0.00735	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	0.45665	B	.	.	0.535899	0.09045	5.828	0.71875029535553825	0.09778	0.00552	0.02527	N	AEFDBHCI	0.039909	0.05861	N	-1.49109708187503	0.01912	0.08392857	-1.53516138275096	0.02080	0.09511815	0.999952974710247	0.48110	0.562547	0.31514	0	0.653731	0.59785	0	0.0	0.00061	3	0.264475	0.05362	3	.	.	1.92	-0.78	0.10416	-4.136000	0.00326	.	.	-1.203000	0.01359	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.2929:0.1901:0.0:0.5171	1.651	0.02605	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4167	3640.72	111	chr3	75736981	.	T	C	3640.72	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-0.791;DP=780;ExcessHet=6.1542;FS=0;MLEAC=5;MLEAF=0.417;MQ=52.71;MQRankSum=-4.821;QD=5.67;ReadPosRankSum=-2.194;SOR=0.674	GT:AD:DP:GQ:PL	0/1:52,7:59:16:16,0,1449	1	0	5	1
chr3	75737012	75737012	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2611A:p.E871K,ZNF717:NM_001290208:exon5:c.G2611A:p.E871K,ZNF717:NM_001290209:exon5:c.G2461A:p.E821K	.	386	662	466	8	0	482	0.266888	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.0010545400782	.	.	.	.	.	.	.	.	.	.	0.0444521	1157	26028	rs75096310	0	6.841e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.934	0.02228	T	0.289	0.21078	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.16	0.19166	T	-0.66	0.19085	N	0.072	0.04547	-0.9570	0.39735	T	0.015	0.05946	T	9	0.029257268	0.01053	T	0.001055	0.01191	T	0.117	0.32689	.	.	0.0138822411134	0.00435	0.0019455304358727955	0.00180	.	.	0.341237813234	0.16623	T	.	.	.	-0.238107	0.15590	T	-0.5798	0.14563	T	0.0632113878371354	0.07664	T	0.059894	0.00434	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.26200	B	.	.	1.575632	0.20165	14.62	0.84215655419281732	0.15163	0.00232	0.01297	N	AEFDBHCI	0.027833	0.02344	N	-1.41055986614139	0.02545	0.1125291	-1.43935631045541	0.02868	0.1327212	0.999943869570154	0.47345	0.562547	0.31514	0	0.653731	0.59785	0	0.517114	0.09559	2	0.756233	0.99697	0	.	.	1.92	-0.00832	0.13329	-3.006000	0.00714	.	.	-1.281000	0.01268	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2577:0.4021:0.0:0.3403	2.041	0.03335	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4167	5397.79	132	chr3	75737012	.	C	T	5397.79	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-1.22;DP=798;ExcessHet=6.1542;FS=0;MLEAC=5;MLEAF=0.417;MQ=53.23;MQRankSum=-4.663;QD=8.1;ReadPosRankSum=-1.168;SOR=0.684	GT:AD:DP:GQ:PL	0/1:49,12:61:72:72,0,1436	1	0	5	1
chr3	75737060	75737060	A	G	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T2563C:p.S855P,ZNF717:NM_001290208:exon5:c.T2563C:p.S855P,ZNF717:NM_001290209:exon5:c.T2413C:p.S805P	.	379	596	534	13	0	560	0.319635	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.160	0.000628152010991	.	.	.	.	.	.	.	.	.	.	0.0548256	1427	26028	rs77715040	8.282e-06	8.895e-06	4.114e-06	1.25e-05	1.183e-05	4.42e-06	3.49e-06	5.34e-06	3.9e-06	0	0	0	0	0	0	9.948e-06	0	1.183e-05	1.314e-05	1.313e-05	1.284e-05	1.345e-05	2.939e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0	0.013	0.53900	D	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.15	0.07820	T	-3.1	0.63554	D	0.116	0.10483	-1.0427	0.16503	T	0.033	0.14029	T	9	0.09637886	0.17284	T	6.28E-4	0.00319	T	0.160	0.41473	.	.	0.0138822411134	0.00435	0.009052444588593512	0.00868	.	.	0.566062688828	0.48122	T	.	.	.	-0.167764	0.25573	T	-0.478758	0.24578	T	0.297621607780457	0.24905	T	0.79872	0.44372	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.550	0.66781	A	.	.	2.370076	0.30412	18.43	0.98191942080542327	0.39045	0.00784	0.03216	N	AEFDBHCI	0.085768	0.17389	N	-0.771083796564405	0.14068	0.6978022	-0.955324100233036	0.10800	0.5462925	0.999957637849619	0.48110	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.59	1.59	0.22622	-2.936000	0.00751	.	.	0.610000	0.48991	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	1.0:0.0:0.0:0.0	7.316	0.25675	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	9255.85	148	chr3	75737060	.	A	G	9255.85	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-1.535;DP=881;ExcessHet=3.6764;FS=1.107;MLEAC=7;MLEAF=0.5;MQ=53.38;MQRankSum=-5.265;QD=12.32;ReadPosRankSum=1.24;SOR=0.597	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:41,20:61:99:.:.:416,0,1182:.	1	1	5	0
chr3	75737092	75737092	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2531A:p.C844Y,ZNF717:NM_001290208:exon5:c.G2531A:p.C844Y,ZNF717:NM_001290209:exon5:c.G2381A:p.C794Y	.	382	490	638	12	0	662	0.403167	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.402	0.00342039862449	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs139633377	6.975e-07	1.369e-06	1.383e-06	0	9.107e-07	0	0	.	.	0	0	0	0	0	0	9.107e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.015	0.61642	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-1.94	0.84919	D	-7.52	0.95102	D	0.208	0.23125	-0.0500	0.81206	T	0.770	0.92171	D	9	0.30394778	0.47923	T	0.00342	0.07694	T	0.402	0.71558	.	.	0.578941962908	0.57563	0.02342305612139971	0.02294	.	.	0.721298933029	0.70236	T	.	.	.	0.128852	0.67249	D	-0.0526902	0.66838	D	0.914417432390081	0.57105	D	0.80432	0.45191	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.889	0.82003	P	.	.	2.732693	0.35776	19.99	0.91222742361264963	0.20479	0.19094	0.20525	N	AEFDBHCI	0.116885	0.22922	N	0.127215796981728	0.47735	2.995096	-0.201159305983142	0.31494	1.782947	0.999998666164745	0.74766	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.46	0.518	0.16228	4.030000	0.56971	.	.	0.487000	0.22268	0.993000	0.37899	0.000000	0.08366	0.025000	0.12405	0.0:0.7965:0.0:0.2035	5.69	0.17097	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	13633.8	135	chr3	75737092	.	C	T	13633.8	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-2.219;DP=904;ExcessHet=3.6764;FS=1.095;MLEAC=7;MLEAF=0.5;MQ=54.9;MQRankSum=-7.465;QD=17.59;ReadPosRankSum=0.982;SOR=0.802	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:42,19:61:99:0|1:75737092_C_T:672,0,1686:75737092	1	1	5	0
chr3	75737094	75737094	T	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2529T:p.R843S,ZNF717:NM_001290208:exon5:c.A2529T:p.R843S,ZNF717:NM_001290209:exon5:c.A2379T:p.R793S	.	386	488	636	12	0	660	0.403423	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.187	0.00139168871644	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs149660902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.487	0.08067	T	0.021	0.58089	D	.	.	.	.	.	.	.	.	.	.	1	0.29002	N	.	.	.	2.5	0.14408	T	0.12	0.05604	N	0.171	0.18239	-0.9656	0.38092	T	0.015	0.05849	T	9	0.041348934	0.02782	T	0.001392	0.02037	T	0.187	0.46274	.	.	0.0138822411134	0.00435	0.003970010212323737	0.00371	.	.	0.350422680378	0.17984	T	.	.	.	-0.230087	0.16639	T	-0.568281	0.15607	T	0.0363333960522166	0.03039	T	0.50295	0.15803	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.364	0.57473	A	.	.	0.927565	0.13027	9.531	0.78772853777929608	0.12446	0.00288	0.01547	N	AEFDBHCI	0.032938	0.03815	N	-1.56864543804847	0.01428	0.06230873	-1.65490256639135	0.01351	0.06097677	0.999968767302643	0.48965	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.46	-1.65	0.07849	-1.617000	0.02154	.	.	-1.209000	0.01353	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.2432:0.1819:0.2457:0.3291	0.098	0.00042	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	13457.8	134	chr3	75737094	.	T	A	13457.8	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-1.999;DP=893;ExcessHet=3.6764;FS=1.104;MLEAC=7;MLEAF=0.5;MQ=55.1;MQRankSum=-7.727;QD=17.48;ReadPosRankSum=0.701;SOR=0.804	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:42,19:61:99:0|1:75737092_C_T:671,0,1686:75737092	1	1	5	0
chr3	75737105	75737105	T	A	exonic	ZNF717	.	stopgain	ZNF717:NM_001128223:exon5:c.A2518T:p.K840X,ZNF717:NM_001290208:exon5:c.A2518T:p.K840X,ZNF717:NM_001290209:exon5:c.A2368T:p.K790X	.	386	483	643	10	0	663	0.406998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0502536	1308	26028	rs113251431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.032	0.00825	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.493707	0.94111	D	0.471	0.94033	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.648710	0.92795	33	0.9890268774789388	0.48217	0.46426	0.27757	N	AEFDBHCI	0.042646	0.06644	N	0.188175099212538	0.50632	3.251287	-0.154561253355241	0.33234	1.898897	0.999999961661622	0.74766	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.59	1.59	0.22622	3.121000	0.50131	.	.	0.539000	0.25131	1.000000	0.71638	0.000000	0.08366	0.011000	0.09372	0.0:0.0:0.0:1.0	7.316	0.25675	987	0.02648	Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	12688.8	128	chr3	75737105	.	T	A	12688.8	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-2.611;DP=850;ExcessHet=3.6764;FS=1.769;MLEAC=7;MLEAF=0.5;MQ=55.69;MQRankSum=-8.189;QD=16.96;ReadPosRankSum=0.071;SOR=0.849	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:39,19:58:99:0|1:75737092_C_T:680,0,1580:75737092	1	1	5	0
chr3	75737127	75737127	A	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T2496G:p.H832Q,ZNF717:NM_001290208:exon5:c.T2496G:p.H832Q,ZNF717:NM_001290209:exon5:c.T2346G:p.H782Q	.	384	545	585	8	0	601	0.355411	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.462	0.0028455442474	.	.	.	.	.	.	.	.	.	.	0.064008	1666	26028	rs79811623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-2.18	0.86722	D	-5.94	0.89093	D	0.203	0.22486	0.069	0.83596	D	0.747	0.91362	D	9	0.25438643	0.42818	T	0.002846	0.05956	T	0.462	0.75889	.	.	0.358340041657	0.35441	0.0053718602075851244	0.00508	.	.	0.740122795105	0.72990	T	.	.	.	0.0996688	0.64257	D	-0.0946091	0.63811	T	0.721620917320251	0.41781	D	0.784422	0.42203	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.946	0.86443	P	.	.	1.863242	0.23667	16.11	0.75650377613460507	0.11157	0.04138	0.09621	N	AEFDBHCI	0.080253	0.16223	N	-0.306900910275906	0.28885	1.597038	-0.631394962146373	0.18688	0.9994579	0.99995045990878	0.48110	0.632932	0.41330	0	0.666794	0.63253	0	0.002978	0.00130	3	0.756233	0.99697	0	.	.	1.59	0.372	0.15405	0.061000	0.14242	.	.	0.575000	0.29119	0.037000	0.20830	0.000000	0.08366	0.001000	0.02609	0.8077:0.0:0.1923:0.0	4.797	0.12647	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4286	10476.5	115	chr3	75737127	.	A	C	10476.5	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-1.467;DP=801;ExcessHet=8.2628;FS=3.274;MLEAC=6;MLEAF=0.429;MQ=56.32;MQRankSum=-7.966;QD=14.92;ReadPosRankSum=0.637;SOR=0.962	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:40,17:57:99:0|1:75737092_C_T:593,0,1628:75737092	1	0	6	0
chr3	75737164	75737172	CTACATTCT	-	exonic	ZNF717	.	nonframeshift deletion	ZNF717:NM_001128223:exon5:c.2451_2459del:p.E818_R820del,ZNF717:NM_001290208:exon5:c.2451_2459del:p.E818_R820del,ZNF717:NM_001290209:exon5:c.2301_2309del:p.E768_R770del	.	392	660	463	7	0	477	0.265442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012256	319	26028	rs66703079	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	5788.44	92	chr3	75737163	.	CCTACATTCT	C	5788.44	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-1.039;DP=689;ExcessHet=8.2628;FS=6.808;MLEAC=6;MLEAF=0.429;MQ=56.82;MQRankSum=-7.58;QD=9.91;ReadPosRankSum=0.068;SOR=1.205	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:38,10:48:99:0|1:75737092_C_T:306,0,1525:75737092	1	0	6	0
chr3	75737519	75737519	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C2104T:p.P702S,ZNF717:NM_001290208:exon5:c.C2104T:p.P702S,ZNF717:NM_001290209:exon5:c.C1954T:p.P652S,ZNF717:NM_001324027:exon5:c.C2104T:p.P702S	.	378	414	722	8	0	738	0.471264	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.231	0.0020371222204	.	.	.	.	.	.	.	.	.	.	0.0847549	2206	26028	rs80089603	0.0009	0.0009	0.0010	0.0008	0.0241	0.0009	0.0009	0.0227	0.0221	0.0241	0.0014	0.0065	0.0009	0	0.0016	6.293e-05	0.0031	0.0001	0.0071	0.0074	0.0072	0.0070	0.0235	0.0067	0.0066	0.0223	0.0218	0.0235	0	0.0024	0.0084	0.0025	0	0.0034	4.409e-05	0.0071	0.0006	0.014	0.53172	D	0.014	0.62352	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	3.28	0.06523	T	-2.65	0.56787	D	0.082	0.05799	-0.9616	0.38877	T	0.011	0.04274	T	9	0.0059270263	0.00133	T	0.002037	0.03721	T	0.231	0.53208	.	.	0.0297737177859	0.01360	0.030845822720570865	0.03033	.	.	0.227284103632	0.01773	T	.	.	.	-0.138909	0.30065	T	-0.437309	0.29111	T	0.612736403942108	0.36911	D	0.140186	0.01129	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.121	0.25166	B	.	.	2.134754	0.27180	17.37	0.9793642767632269	0.36999	0.50764	0.28739	D	AEFDBHCI	0.281183	0.39482	N	-0.656716686745216	0.17265	0.8869353	-0.759493038371137	0.15489	0.8148735	0.999998040796218	0.74766	0.460665	0.09802	0	0.601575	0.49859	0	0.575934	0.27490	0	0.756233	0.99697	0	.	.	1.27	0.281	0.14938	5.209000	0.65041	.	.	0.560000	0.28382	1.000000	0.71638	0.000000	0.08366	0.002000	0.04165	0.0:0.0:0.7085:0.2915	6.406	0.20867	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3571	17345.3	136	chr3	75737519	.	G	A	17345.3	.	AC=5;AF=0.357;AN=14;BaseQRankSum=0.36;DP=884;ExcessHet=4.7409;FS=3.313;MLEAC=5;MLEAF=0.357;MQ=55.92;MQRankSum=-5.949;QD=22.97;ReadPosRankSum=-0.619;SOR=0.774	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:37,33:70:99:.:.:1234,0,1445:.	2	0	5	0
chr3	75737590	75737590	A	G	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T2033C:p.M678T,ZNF717:NM_001290208:exon5:c.T2033C:p.M678T,ZNF717:NM_001290209:exon5:c.T1883C:p.M628T,ZNF717:NM_001324027:exon5:c.T2033C:p.M678T	.	380	344	789	9	0	807	0.539799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.000918803670254	.	.	.	.	.	.	.	.	.	.	0.0043031	112	26028	rs79103664	2.155e-06	3.424e-06	1.417e-06	2.914e-06	1.862e-06	5.7e-07	1.6e-07	3.1e-07	1.2e-07	0	0	0	0	0	0	1.862e-06	1.736e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.577	0.06049	T	0.136	0.34009	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.17	0.07599	T	0.82	0.01813	N	0.035	0.01004	-0.9135	0.46415	T	0.010	0.03492	T	9	0.047419846	0.04058	T	9.19E-4	0.00889	T	0.064	0.18567	.	.	0.0138822411134	0.00435	0.020703910282481648	0.02023	.	.	0.269451141357	0.06069	T	.	.	.	-0.256687	0.13292	T	-0.606489	0.12271	T	0.0260274478999564	0.01409	T	0.0606939	0.00442	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.140	0.30634	B	.	.	-0.571595	0.01651	0.116	0.41969334367691202	0.03062	0.00342	0.01773	N	AEFDBHCI	0.055927	0.10297	N	-1.5270329997039	0.01674	0.07322606	-1.61933844482173	0.01542	0.06986147	0.999968620109732	0.48965	0.475973	0.10046	0	0.601575	0.49859	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.57	-2.35	0.06302	-4.932000	0.00197	.	.	-1.902000	0.00523	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.5391:0.0:0.0:0.4609	5.111	0.14145	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4286	19118.5	151	chr3	75737590	.	A	G	19118.5	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-1.382;DP=1036;ExcessHet=8.2628;FS=1.103;MLEAC=6;MLEAF=0.429;MQ=52.32;MQRankSum=-10.59;QD=20.76;ReadPosRankSum=0.96;SOR=0.791	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:39,39:78:99:0|1:75737590_A_G:1515,0,1515:75737590	1	0	6	0
chr3	75737608	75737608	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2015G:p.K672R,ZNF717:NM_001290208:exon5:c.A2015G:p.K672R,ZNF717:NM_001290209:exon5:c.A1865G:p.K622R,ZNF717:NM_001324027:exon5:c.A2015G:p.K672R	.	399	323	791	9	0	809	0.556014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.003971670348	.	.	.	.	.	.	.	.	.	.	0.0466805	1215	26028	rs75759940	4.311e-06	4.109e-06	2.835e-06	5.828e-06	5.588e-06	1.55e-06	1.02e-06	2.01e-06	1.32e-06	0	0	0	0	0	0	5.588e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.46513	D	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	3.16	0.07711	T	-0.9	0.24244	N	0.034	0.00942	-0.9500	0.40972	T	0.008	0.02926	T	9	0.049818516	0.04624	T	0.003972	0.09400	T	0.059	0.16972	.	.	0.0138822411134	0.00435	0.005655336952012324	0.00535	.	.	0.307848095894	0.11582	T	.	.	.	-0.255831	0.13391	T	-0.60526	0.12373	T	0.0589383841193725	0.07000	T	0.19898	0.02226	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.13268	B	.	.	1.223152	0.16170	12.37	0.86139736186920213	0.16339	0.00629	0.02767	N	AEDBHCI	0.051131	0.09005	N	-1.64554763938136	0.01054	0.04572823	-1.67922087383407	0.01232	0.05551315	0.99998526063166	0.51787	0.475973	0.10046	0	0.601575	0.49859	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.57	-3.14	0.04928	-0.248000	0.08872	.	.	-1.039000	0.01670	0.792000	0.29619	0.000000	0.08366	0.001000	0.02609	0.0:0.4304:0.3244:0.2451	4.750	0.12430	987	0.02648	Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4286	20118.5	159	chr3	75737608	.	T	C	20118.5	.	AC=6;AF=0.429;AN=14;BaseQRankSum=0;DP=1080;ExcessHet=8.2628;FS=0.522;MLEAC=6;MLEAF=0.429;MQ=52.21;MQRankSum=-11.48;QD=20.81;ReadPosRankSum=1.44;SOR=0.769	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:44,42:86:99:0|1:75737590_A_G:1631,0,1721:75737590	1	0	6	0
chr3	75737622	75737622	T	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2001T:p.R667S,ZNF717:NM_001290208:exon5:c.A2001T:p.R667S,ZNF717:NM_001290209:exon5:c.A1851T:p.R617S,ZNF717:NM_001324027:exon5:c.A2001T:p.R667S	.	390	339	783	10	0	803	0.542201	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.148	0.00187641351265	.	.	.	.	.	.	.	.	.	.	0.0503688	1311	26028	rs76175438	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	0.49613	D	0.042	0.50226	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	2.96	0.09542	T	-3.88	0.72710	D	0.189	0.20660	-1.0544	0.13198	T	0.045	0.19478	T	9	0.11718443	0.22126	T	0.001876	0.03272	T	0.148	0.39182	.	.	0.0138822411134	0.00435	0.02830632002622666	0.02780	.	.	0.34867143631	0.17727	T	.	.	.	-0.180088	0.23722	T	-0.496461	0.22715	T	0.343506299687112	0.26762	T	0.413359	0.10763	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.582	0.68127	P	.	.	2.295364	0.29365	18.10	0.84579906210778943	0.15375	0.01716	0.05441	N	AEFDBHCI	0.093535	0.18923	N	-0.671626443351997	0.16833	0.8611102	-0.960126716317775	0.10688	0.5399544	0.999967844770143	0.48965	0.475973	0.10046	0	0.601575	0.49859	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.71	0.405	0.15579	-1.876000	0.01725	.	.	0.551000	0.28136	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.2583:0.0:0.0:0.7417	5.213	0.14647	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4286	20414.5	161	chr3	75737622	.	T	A	20414.5	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-1.071;DP=1104;ExcessHet=8.2628;FS=0;MLEAC=6;MLEAF=0.429;MQ=52.69;MQRankSum=-11.03;QD=20.66;ReadPosRankSum=0.403;SOR=0.696	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:44,42:86:99:0|1:75737590_A_G:1631,0,1721:75737590	1	0	6	0
chr3	75737651	75737651	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C1972T:p.R658C,ZNF717:NM_001290208:exon5:c.C1972T:p.R658C,ZNF717:NM_001290209:exon5:c.C1822T:p.R608C,ZNF717:NM_001324027:exon5:c.C1972T:p.R658C	.	400	343	772	7	0	786	0.533967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.00153184105349	.	.	.	.	.	.	.	.	.	.	0.0285462	743	26028	rs77826574	6.031e-05	7.327e-05	6.658e-05	5.386e-05	0.0004	4.978e-05	4.582e-05	9.298e-05	6.561e-05	3.182e-05	0.0002	0	5.661e-05	0	0.0004	5.584e-05	0.0001	7.603e-05	5.383e-05	7.906e-05	6.569e-05	4.138e-05	0.0002	2.611e-05	1.869e-05	1.982e-05	1.131e-05	5.043e-05	0	6.658e-05	0	0	0	0	5.922e-05	0	0.0002	0.067	0.35918	T	0.169	0.30534	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	5.42	0.00999	T	-3.07	0.63207	D	0.105	0.08925	-0.8711	0.50446	T	0.003	0.01026	T	9	0.085398704	0.14414	T	0.001532	0.02394	T	0.133	0.36157	.	.	0.0482279557977	0.04254	0.024591376914232316	0.02410	.	.	0.41199272871	0.26732	T	.	.	.	-0.203544	0.20296	T	-0.530154	0.19270	T	0.177544683043135	0.19078	T	0.0464954	0.00331	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.238	0.47195	B	.	.	1.962068	0.24926	16.58	0.86866792728357911	0.16827	0.00357	0.01833	N	AEFDBHCI	0.053804	0.09728	N	-0.680381306712077	0.16582	0.8460908	-0.915126681668579	0.11737	0.5997874	0.999961843561367	0.48965	0.460665	0.09802	0	0.546412	0.12157	0	0.575934	0.27490	0	0.756233	0.99697	0	.	.	1.71	0.774	0.17665	-0.426000	0.07076	.	.	-0.244000	0.07312	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.185:0.0:0.5297:0.2853	2.500	0.04348	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4286	20048.5	160	chr3	75737651	.	G	A	20048.5	.	AC=6;AF=0.429;AN=14;BaseQRankSum=2.25;DP=1124;ExcessHet=8.2628;FS=1.1;MLEAC=6;MLEAF=0.429;MQ=53.82;MQRankSum=-10.07;QD=19.95;ReadPosRankSum=-0.18;SOR=0.756	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:48,44:92:99:0|1:75737590_A_G:1703,0,1883:75737590	1	0	6	0
chr3	75737676	75737676	A	T	exonic	ZNF717	.	stopgain	ZNF717:NM_001128223:exon5:c.T1947A:p.C649X,ZNF717:NM_001290208:exon5:c.T1947A:p.C649X,ZNF717:NM_001290209:exon5:c.T1797A:p.C599X,ZNF717:NM_001324027:exon5:c.T1947A:p.C649X	.	512	238	765	7	0	779	0.620717	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0560934	1460	26028	rs79635065	0	6.854e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.025	0.00485	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.356406	0.86974	D	0.274176	0.86805	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.913720	0.80871	27.4	0.97584058415749686	0.34753	0.02032	0.06091	N	AEFDBHCI	0.117194	0.22969	N	-0.0787027714682291	0.38328	2.243117	-0.47253526279424	0.22914	1.246949	0.999961225158915	0.48965	0.460665	0.09802	0	0.546412	0.12157	0	0.575934	0.27490	0	0.756233	0.99697	0	.	.	1.71	1.71	0.23429	0.625000	0.24171	.	.	0.517000	0.23534	0.432000	0.26424	0.000000	0.08366	0.002000	0.04165	0.6786:0.0:0.0:0.3214	3.984	0.08997	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	18382.8	143	chr3	75737676	.	A	T	18382.8	.	AC=7;AF=0.5;AN=14;BaseQRankSum=1.66;DP=1052;ExcessHet=3.6764;FS=3.172;MLEAC=7;MLEAF=0.5;MQ=54.49;MQRankSum=-8.507;QD=19.7;ReadPosRankSum=-0.816;SOR=0.646	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:42,37:79:99:0|1:75737590_A_G:1427,0,1652:75737590	1	1	5	0
chr3	75737840	75737840	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G1783A:p.E595K,ZNF717:NM_001290208:exon5:c.G1783A:p.E595K,ZNF717:NM_001290209:exon5:c.G1633A:p.E545K,ZNF717:NM_001324027:exon5:c.G1783A:p.E595K	.	370	419	727	6	0	739	0.468611	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.000881827712362	.	.	.	.	.	.	.	.	.	.	0.0177117	461	26028	rs76496075	2.859e-06	4.104e-06	4.231e-06	1.449e-06	3.707e-06	6.7e-07	4.5e-07	8.7e-07	5.9e-07	0	0	0	0	0	0	3.707e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.30656	T	0.022	0.57587	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.2	0.07236	T	-2.3	0.51157	N	0.164	0.17278	-1.0162	0.24948	T	0.024	0.10058	T	9	0.10873449	0.20253	T	8.82E-4	0.00800	T	0.063	0.18251	.	.	0.0138822411134	0.00435	0.00774685412423065	0.00739	.	.	0.43924510479	0.30473	T	.	.	.	-0.112376	0.34376	T	-0.399197	0.33477	T	0.387678323599846	0.28476	T	0.0947905	0.00704	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.193	0.41357	B	.	.	1.271536	0.16702	12.71	0.99193801633277179	0.55053	0.00456	0.02204	N	AEFDBHCI	0.032518	0.03688	N	-0.56728006039535	0.19945	1.047804	-0.791629829841235	0.14701	0.7694518	0.999948745414493	0.47345	0.0	0.00013	3	0.636889	0.57051	0	0.473483	0.07196	2	0.0	0.00009	3	.	.	1.9	0.993	0.18943	-0.240000	0.08970	.	.	0.415000	0.20742	0.000000	0.06391	0.000000	0.08366	0.023000	0.12082	0.0:0.8279:0.0:0.1721	6.443	0.21064	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	6783.1	144	chr3	75737840	.	C	T	6783.1	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-1.503;DP=1016;ExcessHet=1.4958;FS=8.807;MLEAC=6;MLEAF=0.5;MQ=58.64;MQRankSum=-4.22;QD=11.6;ReadPosRankSum=-0.374;SOR=0.756	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:68,20:88:99:0|1:75737814_C_T:630,0,2702:75737814	1	1	4	1
chr3	75737881	75737881	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A1742G:p.H581R,ZNF717:NM_001290208:exon5:c.A1742G:p.H581R,ZNF717:NM_001290209:exon5:c.A1592G:p.H531R,ZNF717:NM_001324027:exon5:c.A1742G:p.H581R	.	356	594	572	0	0	572	0.325	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.389	0.00618583320825	.	.	.	.	.	.	.	.	.	.	0.0154833	403	26028	rs76729736	5.018e-06	5.475e-06	2.829e-06	7.267e-06	8.44e-05	2.09e-06	1.34e-06	2.237e-05	1.22e-05	3.194e-05	0	0	8.44e-05	0	0	0	0	3.792e-05	1.313e-05	1.312e-05	1.284e-05	1.342e-05	0.0002	2.18e-06	8.2e-07	.	.	2.405e-05	0	0	0	0.0002	0	0	0	0	0	0.031	0.45039	D	0.023	0.57104	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-2.18	0.86722	D	-7.28	0.94430	D	0.235	0.26475	0.078	0.83778	D	0.691	0.89323	D	9	0.15374556	0.29014	T	0.006186	0.16200	T	0.389	0.70521	.	.	0.26547132957	0.26150	0.029317279208247043	0.02880	.	.	0.705122470856	0.67885	T	.	.	.	0.0863372	0.62775	D	-0.113759	0.62311	T	0.349910879008873	0.27015	T	0.751425	0.37327	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.804	0.77471	P	.	.	1.529838	0.19634	14.36	0.57541806715571575	0.05792	0.27383	0.23262	N	AEFDBHCIJ	0.135649	0.25605	N	-0.602165132605538	0.18879	0.9837148	-0.767266515667793	0.15298	0.8039007	0.999994431577383	0.74766	0.566229	0.32551	0	0.615513	0.52658	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.76	0.513	0.16200	2.229000	0.42634	.	.	-0.220000	0.07995	1.000000	0.71638	0.067000	0.22148	0.002000	0.04165	0.0:0.1678:0.0:0.8322	5.415	0.15671	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4286	5482.48	133	chr3	75737881	.	T	C	5482.48	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-1.344;DP=923;ExcessHet=8.2628;FS=16.594;MLEAC=6;MLEAF=0.429;MQ=58.05;MQRankSum=-5.768;QD=6.98;ReadPosRankSum=-3.256;SOR=1.294	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:79,9:88:99:0|1:75737881_T_C:103,0,3151:75737881	1	0	6	0
chr3	75737891	75737891	-	AAAT	exonic	ZNF717	.	frameshift insertion	ZNF717:NM_001128223:exon5:c.1731_1732insATTT:p.L578Ifs*16,ZNF717:NM_001290208:exon5:c.1731_1732insATTT:p.L578Ifs*16,ZNF717:NM_001290209:exon5:c.1581_1582insATTT:p.L528Ifs*16,ZNF717:NM_001324027:exon5:c.1731_1732insATTT:p.L578Ifs*16	.	353	691	477	1	0	479	0.257389	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004995	13	26028	rs369928577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	4137.44	128	chr3	75737891	.	G	GAAAT	4137.44	.	AC=6;AF=0.429;AN=14;BaseQRankSum=1.04;DP=874;ExcessHet=8.2628;FS=18.679;MLEAC=6;MLEAF=0.429;MQ=57.87;MQRankSum=-7.28;QD=5.55;ReadPosRankSum=-2.558;SOR=1.594	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:75,7:82:56:0|1:75737881_T_C:56,0,3078:75737881	1	0	6	0
chr3	75737893	75737893	-	CTT	exonic	ZNF717	.	stopgain	ZNF717:NM_001128223:exon5:c.1729_1730insAAG:p.F577_P914del,ZNF717:NM_001290208:exon5:c.1729_1730insAAG:p.F577_P914del,ZNF717:NM_001290209:exon5:c.1579_1580insAAG:p.F527_P864del,ZNF717:NM_001324027:exon5:c.1729_1730insAAG:p.F577_N798del	.	356	680	485	1	0	487	0.263671	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0023052	60	26028	rs373780316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	4099.44	122	chr3	75737893	.	A	ACTT	4099.44	.	AC=6;AF=0.429;AN=14;BaseQRankSum=0.181;DP=856;ExcessHet=8.2628;FS=19.985;MLEAC=6;MLEAF=0.429;MQ=57.78;MQRankSum=-7.524;QD=5.65;ReadPosRankSum=-2.157;SOR=1.749	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:74,8:82:99:0|1:75737881_T_C:101,0,3008:75737881	1	0	6	0
chr3	75739283	75739283	G	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C340A:p.Q114K,ZNF717:NM_001290208:exon5:c.C340A:p.Q114K,ZNF717:NM_001290209:exon5:c.C190A:p.Q64K,ZNF717:NM_001324027:exon5:c.C340A:p.Q114K	.	430	419	666	7	0	680	0.447958	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	0.00164498502106	.	.	.	.	.	.	.	.	.	.	0.0684647	1782	26028	rs4011155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.979	0.02012	T	0.602	0.07894	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.91	0.44856	T	-0.17	0.09627	N	0.04	0.01347	-1.0394	0.17495	T	0.052	0.22269	T	9	0.04538721	0.03603	T	0.001645	0.02676	T	0.115	0.32236	.	.	0.0138822411134	0.00435	0.01612756142273845	0.01568	.	.	0.421879798174	0.28096	T	.	.	.	-0.0408301	0.45825	T	-0.296426	0.45101	T	0.177929786236283	0.19104	T	0.340666	0.07366	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	0.43102	B	.	.	0.246741	0.06266	2.719	0.63846773733670814	0.07333	0.00471	0.02257	N	AEFDBCI	.	.	.	-0.990502388475167	0.08805	0.414299	-1.12680793005723	0.07191	0.3488778	0.99994075275372	0.47345	0.0	0.00013	3	0.636889	0.57051	0	0.002978	0.00130	3	0.264475	0.05362	3	.	.	2.13	-0.13	0.12839	0.783000	0.26463	.	.	0.493000	0.22426	0.008000	0.17931	0.055000	0.21918	0.006000	0.07323	0.0:0.4319:0.5681:0.0	8.996	0.35214	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4167	2193.79	45	chr3	75739283	.	G	T	2193.79	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-1.377;DP=386;ExcessHet=6.1542;FS=4.771;MLEAC=5;MLEAF=0.417;MQ=54.1;MQRankSum=-3.42;QD=6.99;ReadPosRankSum=0.077;SOR=0.956	GT:AD:DP:GQ:PL	0/1:22,7:29:99:114,0,657	1	0	5	1
chr3	86968949	86968949	T	A	exonic	VGLL3	.	nonsynonymous SNV	VGLL3:NM_001320493:exon3:c.A578T:p.H193L,VGLL3:NM_001320494:exon3:c.A419T:p.H140L,VGLL3:NM_016206:exon3:c.A578T:p.H193L	.	402	1099	21	0	0	21	0.00946372	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.222	.	0.0081	0.00379393	0.0074	0.0032	0.0036	0	0.0107	0.0098	0.0067	0.0054	0.007115	1100	154602	rs79345443	0.0098	0.0098	0.0100	0.0097	0.0113	0.0097	0.0096	0.0109	0.0108	0.0021	0.0049	0.0054	5.038e-05	0.0106	0.0113	0.0111	0.0086	0.0058	0.0074	0.0074	0.0073	0.0074	0.0108	0.0070	0.0069	0.0102	0.0099	0.0020	0.0164	0.0056	0.0052	0.0002	0.0116	0.0306	0.0108	0.0099	0.0058	0.004	0.68238	D	0.359	0.23164	T	0.41	0.35064	B	0.071	0.27960	B	0.000429	0.44522	D	0.154637	0.999985	0.54805	D	2.425	0.70256	M	0.88	0.47815	T	-4.36	0.76980	D	0.511	0.54234	-0.8835	0.49480	T	0.110	0.39699	T	10	0.008695096	0.00197	T	.	.	.	0.222	0.51872	.	.	0.276065633971	0.27208	0.5476830193202381	0.54694	0.400510994764	0.41053	0.588839530945	0.51330	T	0.154338	0.49559	T	-0.118266	0.33408	T	0.0653047	0.74597	D	0.0378037034534093	0.03297	T	0.849215	0.53152	T	0.3485719	0.56956	0.3174082	0.57715	0.3485719	0.56956	0.3174082	0.57715	-2.864	0.08788	T	.	.	0.117	0.27433	B	.;.	.;.	3.321003	0.45673	22.2	0.97824064956744039	0.36213	0.97110	0.72748	D	AEFBI	0.616044	0.60276	D	0.240166363538059	0.53154	3.485651	0.351726897792337	0.58611	4.032735	0.999999999999794	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.644132	0.48003	0	0.714379	0.83352	0	.	.	5.81	5.81	0.92413	2.870000	0.48150	5.137000	0.47688	0.644000	0.52426	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.0:0.0:1.0	15.816	0.78379	606	0.67383	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.015106	0.010101	0.008152	0.020468	0.050000	0.000000	0.021341	0.015152	0.07143	773.44	34	chr3	86968949	.	T	A	773.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.57;DP=243;ExcessHet=0;FS=2.345;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.59;ReadPosRankSum=-1.1;SOR=0.516	GT:AD:DP:GQ:PL	0/1:24,29:53:99:784,0,556	6	0	1	0
chr3	98133456	98133460	ACCCC	-	exonic	OR5H1	.	frameshift deletion	OR5H1:NM_001005338:exon1:c.759_763del:p.P254Sfs*14	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.704e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	282.4	57	chr3	98133455	.	GACCCC	G	282.4	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.421;DP=401;ExcessHet=0.3476;FS=73.735;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=2.8;ReadPosRankSum=0.974;SOR=6.09	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:37,7:44:70:0|1:98133455_GACCCC_G:70,0,1388:98133455	5	0	2	0
chr3	98133456	98133460	ACCCC	0	exonic	OR5H1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	1231.26	57	chr3	98133456	.	ACCCC	*	1231.26	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-3.113;DP=454;ExcessHet=2.5225;FS=282.521;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=4.15;ReadPosRankSum=2;SOR=8.662	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:37,7:44:70:0|1:98133455_GACCCC_G:70,0,1388:98133455	5	0	2	0
chr3	98133460	98133460	-	GGGGG	exonic	OR5H1	.	frameshift insertion	OR5H1:NM_001005338:exon1:c.763_764insGGGGG:p.L255Rfs*33	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	1231.31	57	chr3	98133460	.	C	CGGGGG	1231.31	.	AC=2;AF=0.25;AN=8;DP=408;ExcessHet=3.1439;FS=240.928;MLEAC=3;MLEAF=0.375;MQ=60;MQRankSum=0;QD=4.49;ReadPosRankSum=1.34;SOR=8.286	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:36,7:43:73:0|1:98133455_GACCCC_G:73,0,1354:98133455	2	0	2	3
chr3	98133463	98133463	C	G	exonic	OR5H1	.	nonsynonymous SNV	OR5H1:NM_001005338:exon1:c.C766G:p.L256V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.00126498386421	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.052e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.43085	D	0.068	0.44106	T	0.005	0.12996	B	0.053	0.25678	B	0.261193	0.15311	N	0.542116	1	0.08975	N	0.915	0.23335	L	0.99	0.41750	T	-2.16	0.48850	N	0.126	0.11912	-1.0038	0.28814	T	0.079	0.31466	T	10	0.049896806	0.04644	T	0.001265	0.01708	T	0.026	0.05648	0.296	0.26041	0.128392430309	0.12331	0.03494044702375308	0.03441	0.301753269651	0.32506	0.278658390045	0.07306	T	0.006	0.05345	T	-0.262441	0.12617	T	-0.614755	0.11603	T	0.125886231660843	0.14996	T	0.469153	0.13854	T	0.1777599	0.38759	0.102822304	0.24655	0.1777599	0.38758	0.102822304	0.24654	-4.104	0.25349	T	.	.	0.129	0.31151	B	.;.	.;.	1.199857	0.15918	12.19	0.77165719573394564	0.11763	0.00876	0.03464	N	AEFI	0.031298	0.03314	N	-1.1071760963484	0.06514	0.3000934	-1.14194788532371	0.06913	0.3344078	1.71832632022719E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.57	0.621	0.16817	-1.594000	0.02198	.	.	0.385000	0.20450	0.000000	0.06391	0.000000	0.08366	0.108000	0.18652	0.1779:0.4335:0.1738:0.2148	1.131	0.01639	773	0.48803	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2143	1005.37	59	chr3	98133463	.	C	G	1005.37	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-3.869;DP=388;ExcessHet=1.1394;FS=181.558;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=5.29;ReadPosRankSum=1.84;SOR=7.743	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:34,7:41:79:0|1:98133455_GACCCC_G:79,0,1300:98133455	4	0	3	0
chr3	98532376	98532376	G	A	exonic	GPR15	.	nonsynonymous SNV	GPR15:NM_005290:exon1:c.G343A:p.V115I	.	427	1093	2	0	0	2	0.000914077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.330	0.0277212106973	7.7e-05	0.000199681	9.061e-05	0	0	0	0	0.0001	0.0011	6.057e-05	9.06e-05	14	154602	rs189514169	0.0001	0.0001	0.0001	0.0001	0.0007	0.0001	0.0001	0.0002	0.0001	2.987e-05	0.0001	0	2.519e-05	0	0.0007	0.0001	0.0002	6.956e-05	0.0003	0.0003	0.0002	0.0004	0.0018	0.0002	0.0002	0.0013	0.0011	0	0	0.0018	0	0	0	0.0034	0.0002	0.0005	0	0.003	0.68238	D	0.476	0.12037	T	1.0	0.90584	D	0.992	0.80445	D	0.000303	0.45977	D	0.000000	0.989207	0.40907	D	1.76	0.45711	L	-0.69	0.72678	T	-0.15	0.09297	N	0.31	0.34981	-0.2038	0.77572	T	0.414	0.76170	T	10	0.31972027	0.49355	T	0.027721	0.50496	D	0.330	0.65226	.	.	0.839121198241	0.83758	0.20924896826721248	0.20840	0.289863403258	0.31394	0.498795092106	0.38660	T	0.004428	0.03837	T	-0.264284	0.12402	T	-0.343102	0.39993	T	0.215377494692802	0.21231	T	0.822018	0.48145	T	0.2895511	0.51951	0.2670073	0.52553	0.2895511	0.51951	0.2670073	0.52552	-5.367	0.40601	T	.	.	0.121	0.25265	B	.	.	3.606565	0.50966	23.0	0.99861702778433048	0.94002	0.90206	0.51201	D	ALL	0.652031	0.62557	D	0.522343226782585	0.68412	5.213813	0.48072474378235	0.66714	4.988152	0.999999999978396	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	4.83	3.96	0.45097	5.688000	0.67889	.	.	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.089000	0.17737	0.0909:0.0:0.9091:0.0	11.039	0.47033	470	0.78111	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	704.63	33	chr3	98532376	.	G	A	704.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.816;DP=243;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.37;ReadPosRankSum=0.373;SOR=0.579	GT:AD:DP:GQ:PL	0/1:31,31:62:99:715,0,666	6	0	1	0
chr3	114350760	114350760	C	T	exonic	ZBTB20	.	nonsynonymous SNV	ZBTB20:NM_001164342:exon4:c.G1318A:p.E440K,ZBTB20:NM_001164346:exon5:c.G1099A:p.E367K,ZBTB20:NM_001164347:exon5:c.G1099A:p.E367K,ZBTB20:NM_001164345:exon6:c.G1099A:p.E367K,ZBTB20:NM_001164344:exon7:c.G1099A:p.E367K,ZBTB20:NM_001348804:exon9:c.G1099A:p.E367K,ZBTB20:NM_015642:exon9:c.G1099A:p.E367K,ZBTB20:NM_001348802:exon10:c.G1099A:p.E367K,ZBTB20:NM_001348805:exon10:c.G1099A:p.E367K,ZBTB20:NM_001164343:exon11:c.G1099A:p.E367K,ZBTB20:NM_001348800:exon11:c.G1318A:p.E440K,ZBTB20:NM_001348801:exon11:c.G1099A:p.E367K,ZBTB20:NM_001348803:exon13:c.G1318A:p.E440K	Primrose syndrome, Autosomal dominant	427	1046	47	2	0	51	0.0237984	.	.	.	697765	Primrose_syndrome|not_provided|not_specified	MONDO:MONDO:0009798,MedGen:C0796121,OMIM:259050,Orphanet:3042|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.085	.	0.0054	0.00479233	0.0061	0.0013	0.0034	0	0.0005	0.0077	0.0066	0.0099	0.0059249	916	154602	rs138924453	0.0062	0.0062	0.0061	0.0062	0.0192	0.0061	0.0060	0.0163	0.0153	0.0007	0.0052	0.0164	0	0.0009	0.0192	0.0062	0.0075	0.0094	0.0053	0.0053	0.0055	0.0052	0.0108	0.0050	0.0049	0.0094	0.0089	0.0010	0.0033	0.0108	0.0164	0.0002	0.0002	0.0238	0.0071	0.0095	0.0068	0.005	0.65419	D	0.908	0.03074	T	0.0	0.02946	B	0.0	0.01387	B	0.005851	0.32460	N	0.335736	0.999918	0.51042	D	0.805	0.20218	L	2.95	0.09822	T	-0.4	0.13805	N	0.462	0.50056	-1.0342	0.19109	T	0.013	0.04985	T	10	0.0055340827	0.00122	T	.	.	.	0.085	0.24743	.	.	0.273495378476	0.26946	0.35997643831087467	0.35911	1.32069806668	0.83445	0.627004861832	0.56721	T	0.106686	0.41824	T	-0.469568	0.00855	T	-0.440456	0.28757	T	0.0611467036723522	0.07347	T	0.878612	0.59406	D	0.38603228	0.59749	0.32534233	0.58450	0.3285269	0.55350	0.32534233	0.58449	-2.938	0.11102	T	.	.	0.352	0.56715	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.272020	0.44790	22.0	0.99728218537375035	0.82549	0.97136	0.72900	D	AEFBI	0.764290	0.70112	D	0.0161949265100816	0.42593	2.569172	0.22455800224508	0.51212	3.305839	0.999999922502221	0.74766	0.372202	0.05800	0	0.546412	0.12157	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	5.41	5.41	0.78313	7.350000	0.78633	7.709000	0.66702	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	19.198	0.93686	846	0.36215	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.016113	0.010101	0.023098	0.002924	0.000000	0.008621	0.018293	0.007576	0.1429	3058.29	34	chr3	114350760	.	C	T	3058.29	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-1.011;DP=378;ExcessHet=0.3476;FS=1.019;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=13.3;ReadPosRankSum=2.38;SOR=0.769	GT:AD:DP:GQ:PL	0/1:42,43:85:99:1101,0,1105	5	0	2	0
chr3	121489129	121489129	C	T	exonic	POLQ	.	nonsynonymous SNV	POLQ:NM_199420:exon16:c.G3802A:p.V1268I	.	424	1084	14	0	0	14	0.00641613	.	.	.	1037307	not_provided	MedGen:C3661900	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.010	0.00400772453223	7.7e-05	0.000199681	0.0008	9.625e-05	8.637e-05	0	0	0.0004	0.0011	0.0040	0.0006209	96	154602	rs142531238	0.0005	0.0005	0.0004	0.0006	0.0047	0.0005	0.0005	0.0033	0.0030	8.962e-05	0.0003	0.0006	0	1.874e-05	0.0047	0.0003	0.0010	0.0035	0.0005	0.0005	0.0003	0.0006	0.0025	0.0004	0.0003	0.0014	0.0011	9.626e-05	0	0.0014	0	0	0	0.0034	0.0004	0.0009	0.0025	0.626	0.05214	T	0.309	0.21277	T	0.0	0.02946	B	0.001	0.04355	B	0.287980	0.14822	N	0.647462	1	0.08975	N	0.895	0.22405	L	0.88	0.46028	T	-0.2	0.10136	N	0.024	0.00445	-1.0559	0.12803	T	0.049	0.20947	T	10	0.0063426793	0.00143	T	0.004008	0.09525	T	0.010	0.01040	.	.	0.213573922156	0.20996	0.01741591055195325	0.01696	0.0589115962734	0.06543	0.276254832745	0.06975	T	0.017892	0.14518	T	-0.715732	0.00029	T	-0.802665	0.01836	T	0.00604888178461951	0.00067	T	0.39776	0.10046	T	0.029463131	0.02445	0.020646095	0.00147	0.029463131	0.02445	0.020646095	0.00147	-3.331	0.14139	T	0.07893790001760942	0.03840	0.072	0.04119	B	.;.	.;.	-1.436216	0.00335	0.006	0.28299652797770708	0.01446	0.02015	0.06057	N	AEFBCI	0.021177	0.00915	N	-1.33998192557775	0.03229	0.1439212	-1.37518491506718	0.03518	0.1642831	0.00463882998324061	0.10650	0.615465	0.37627	0	0.653731	0.59785	0	0.670488	0.60580	0	0.655142	0.61905	0	.	.	4.86	-2.47	0.06070	-0.947000	0.04011	-0.307000	0.10069	-0.181000	0.10308	0.000000	0.06391	0.000000	0.08366	0.068000	0.16518	0.1317:0.297:0.0:0.5713	4.932	0.13273	274	0.89249	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002014	0.000000	0.002717	0.000000	0.000000	0.000000	0.003049	0.003788	0.07143	833.45	33	chr3	121489129	.	C	T	833.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.115;DP=247;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.37;ReadPosRankSum=0.199;SOR=0.779	GT:AD:DP:GQ:PL	0/1:23,35:58:99:844,0,486	6	0	1	0
chr3	121669213	121669213	G	A	exonic	GOLGB1	.	nonsynonymous SNV	GOLGB1:NM_001256488:exon17:c.C9080T:p.A3027V,GOLGB1:NM_001366283:exon17:c.C9197T:p.A3066V,GOLGB1:NM_001366284:exon17:c.C9080T:p.A3027V,GOLGB1:NM_001256486:exon18:c.C9320T:p.A3107V,GOLGB1:NM_001256487:exon18:c.C9203T:p.A3068V,GOLGB1:NM_001366282:exon18:c.C9320T:p.A3107V,GOLGB1:NM_004487:exon18:c.C9305T:p.A3102V	.	434	1085	3	0	0	3	0.00138058	.	.	.	2725011	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.081	0.0052331930876	0.0007	0.000199681	0.0007	9.61e-05	0.0008	0	0.0003	0.0008	0.0033	0.0007	0.0006274	97	154602	rs150865762	0.0009	0.0009	0.0009	0.0009	0.0011	0.0008	0.0008	0.0010	0.0009	8.975e-05	0.0003	3.83e-05	0	0.0001	0.0011	0.0010	0.0013	0.0008	0.0004	0.0004	0.0004	0.0004	0.0007	0.0003	0.0003	0.0006	0.0005	7.231e-05	0	0.0001	0.0003	0	0.0006	0	0.0007	0.0005	0.0004	0.086	0.32610	T	0.016	0.61642	D	0.891	0.49025	P	0.087	0.29615	B	0.968335	0.07762	N	1.014780	0.999998	0.08975	N	2.19	0.61577	M	2.41	0.16640	T	-0.62	0.18248	N	0.06	0.06322	-1.0269	0.21462	T	0.051	0.21533	T	10	0.010924935	0.00241	T	0.005233	0.13341	T	0.081	0.23632	.	.	0.298403945805	0.29456	0.04784555884000848	0.04727	0.104594457088	0.11836	0.288228034973	0.08665	T	0.014687	0.12455	T	-0.592018	0.00163	T	-0.691992	0.06275	T	0.0236012703275253	0.01096	T	0.653935	0.26999	T	0.0190208	0.00427	0.033071	0.02143	0.0190208	0.00427	0.033071	0.02143	-4.826	0.34893	T	.	.	0.076	0.06159	B	.;.;.	.;.;.	1.802672	0.22914	15.81	0.98957869671242726	0.49266	0.09378	0.15146	N	AEFDBI	0.060576	0.11522	N	-0.72055636124145	0.15444	0.7784042	-0.785859262406749	0.14842	0.7775945	0.0443393732372693	0.14607	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.63	0.6	0.16703	0.812000	0.26869	-0.502000	0.08796	-0.272000	0.06708	0.028000	0.20300	0.000000	0.08366	0.912000	0.44740	0.2312:0.1355:0.4939:0.1394	1.927	0.03118	391	0.83213	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	507.27	35	chr3	121669213	.	G	A	507.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.34;DP=221;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.95;ReadPosRankSum=0.586;SOR=0.627	GT:AD:DP:GQ:PL	0/1:27,24:51:99:517,0,549	5	0	1	1
chr3	121717027	121717027	A	G	exonic	GOLGB1	.	nonsynonymous SNV	GOLGB1:NM_001256488:exon8:c.T758C:p.V253A,GOLGB1:NM_001366283:exon8:c.T875C:p.V292A,GOLGB1:NM_001366284:exon8:c.T758C:p.V253A,GOLGB1:NM_001256486:exon9:c.T998C:p.V333A,GOLGB1:NM_001256487:exon9:c.T881C:p.V294A,GOLGB1:NM_001366282:exon9:c.T998C:p.V333A,GOLGB1:NM_004487:exon9:c.T983C:p.V328A	.	438	1079	5	0	0	5	0.0023116	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.0202556276421	0.0015	.	0.0009	0.0008	0.0007	0	0	0.0013	0	0.0002	0.0008926	138	154602	rs140932474	0.0016	0.0016	0.0016	0.0016	0.0019	0.0015	0.0015	0.0019	0.0018	0.0001	0.0008	0.0020	0	0.0001	0.0005	0.0019	0.0012	0.0002	0.0011	0.0011	0.0013	0.0010	0.0018	0.0010	0.0009	0.0016	0.0015	0.0005	0	0.0009	0.0026	0	0	0	0.0018	0.0005	0.0004	0.006	0.65419	D	0.148	0.49120	T	0.835	0.46254	P	0.352	0.45529	B	0.024854	0.26190	N	0.326081	0.676595	0.30316	N	2.42	0.70002	M	2.46	0.24656	T	-1.33	0.33197	N	0.334	0.52829	-0.7425	0.58324	T	0.182	0.52980	T	10	0.011101335	0.00244	T	0.020256	0.42817	T	0.074	0.21613	.	.	0.303453137403	0.29957	0.062432279216647374	0.06183	0.222033821018	0.24739	0.352981030941	0.18360	T	0.016641	0.13717	T	-0.481397	0.00726	T	-0.488898	0.23506	T	0.0475664479242931	0.05065	T	0.80032	0.44782	T	0.067554064	0.14640	0.08843764	0.20621	0.067554064	0.14640	0.08843764	0.20620	-2.648	0.07768	T	.	.	0.176	0.38516	B	.;.;.;.	.;.;.;.	2.619759	0.34042	19.52	0.94100077710651098	0.24262	0.57008	0.30264	D	AEFBI	0.163232	0.28949	N	0.0289415856601971	0.43173	2.615602	0.00553740433537137	0.39973	2.378194	0.657611372545038	0.22235	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.77	4.54	0.55220	2.428000	0.44406	4.959000	0.46330	0.756000	0.94297	0.044000	0.21163	0.975000	0.29991	0.991000	0.66497	0.8312:0.0:0.0:0.1688	8.714	0.33564	436	0.80373	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	990.49	38	chr3	121717027	.	A	G	990.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.985;DP=281;ExcessHet=0;FS=4.468;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.21;ReadPosRankSum=0.712;SOR=0.716	GT:AD:DP:GQ:PL	0/1:35,40:75:99:1001,0,813	6	0	1	0
chr3	127660717	127660717	C	T	exonic	PODXL2	.	nonsynonymous SNV	PODXL2:NM_015720:exon3:c.C689T:p.S230L	.	.	.	.	.	.	.	.	.	.	.	2205503	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.058	0.0110582315136	.	.	0.0001	0	8.639e-05	0	0	0.0002	0	0	8.41e-05	13	154602	rs759498460	8.824e-05	8.824e-05	8.167e-05	9.488e-05	0.0005	7.554e-05	7.101e-05	0.0001	8.211e-05	0	0.0001	0	0	0	0.0005	0.0001	4.967e-05	3.478e-05	2.629e-05	2.627e-05	2.569e-05	2.691e-05	6.544e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	0	0	6.544e-05	0	0	0	0	4.41e-05	0	0	0.05	0.39575	D	0.088	0.40586	T	0.267	0.31683	B	0.058	0.26451	B	0.759323	0.09636	N	0.873209	0.999994	0.08975	N	1.935	0.51832	L	1.74	0.26301	T	-2.79	0.59059	D	0.182	0.19728	-1.0378	0.17985	T	0.047	0.20235	T	10	0.06931305	0.09928	T	0.011058	0.28291	T	0.058	0.16647	0.163	0.06730	0.043077524339	0.03247	0.09397406247692491	0.09329	0.2127558496	0.23780	0.260135412216	0.04906	T	0.064097	0.32346	T	-0.39393	0.02537	T	-0.518916	0.20405	T	0.540537297725677	0.34124	D	0.816518	0.47234	T	0.1666086	0.37006	0.17423394	0.39805	0.1666086	0.37006	0.17423394	0.39804	-3.843	0.21448	T	.	.	0.084	0.09675	B	.	.	2.437397	0.31368	18.72	0.99661667947218724	0.78011	0.20679	0.21129	N	AEFBI	0.198492	0.32534	N	-0.376862193190543	0.26296	1.434039	-0.319112858008173	0.27481	1.525238	0.999933584676993	0.46732	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.579976	0.35079	0	.	.	4.25	4.25	0.49658	3.040000	0.49489	2.298000	0.32000	0.549000	0.26987	0.028000	0.20300	0.013000	0.20296	0.551000	0.30197	0.0:1.0:0.0:0.0	14.42	0.66749	772	0.48957	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	1454.42	33	chr3	127660717	.	C	T	1454.42	.	AC=2;AF=0.143;AN=14;DP=226;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=31.62;SOR=1.203	GT:AD:DP:GQ:PL	1/1:0,46:46:99:1475,138,0	6	1	0	0
chr3	128055734	128055734	T	C	exonic	SEC61A1	.	nonsynonymous SNV	SEC61A1:NM_013336:exon4:c.T203C:p.I68T	Hyperuricemic nephropathy, familial juvenile, 4, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.573	0.091247723289	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.258e-05	0.0002	2.676e-05	1.839e-05	9.196e-05	1.634e-05	1.399e-05	2.437e-05	1.642e-05	9.196e-05	0	0	0	0	0	2.708e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	0.813	0.45457	P	0.991	0.79672	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.275	0.90144	M	.	.	.	-4.32	0.78135	D	0.916	0.91852	0.283	0.87277	D	0.586	0.85162	D	9	0.86147714	0.85369	D	0.091248	0.75671	D	0.573	0.82686	0.675	0.81299	0.76620622527	0.76407	0.9592012447472799	0.95906	2.62425591286	0.98291	0.937776684761	0.99368	D	0.171646	0.89009	T	0.407234	0.90327	D	0.347187	0.90207	D	0.99201911687851	0.82399	D	0.982235	0.93989	D	0.61355335	0.73418	0.63325304	0.78597	0.61355335	0.73420	0.63325304	0.78598	-14.305	0.94006	D	0.9309146123572548	0.97183	0.995	0.95337	P	.;.;.	.;.;.	4.978580	0.82446	27.8	0.99818939875784696	0.90238	0.96469	0.69293	D	AEFBCI	0.955470	0.97334	D	0.872628912596572	0.90357	10.36711	0.841034471038791	0.92481	11.45152	0.999999999999953	0.74766	0.706548	0.73137	0	0.672317	0.65289	0	0.724815	0.87919	0	0.638787	0.57140	0	.	.	5.96	5.96	0.96695	8.017000	0.88732	7.920000	0.74475	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.0:0.0:0.0:1.0	16.434	0.83709	652	0.62785	Translocon Sec61/SecY, plug domain;Translocon Sec61/SecY, plug domain;Translocon Sec61/SecY, plug domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4286	811.28	32	chr3	128055734	.	T	C	811.28	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-1.855;DP=354;ExcessHet=8.2628;FS=216.11;MLEAC=6;MLEAF=0.429;MQ=60;MQRankSum=0;QD=2.38;ReadPosRankSum=0.211;SOR=8.983	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:24,10:34:25:.:.:25,0,396:.	1	0	6	0
chr3	129514474	129514474	C	G	exonic	IFT122	.	nonsynonymous SNV	IFT122:NM_052990:exon22:c.C2743G:p.L915V,IFT122:NM_001280546:exon23:c.C2446G:p.L816V,IFT122:NM_018262:exon24:c.C2896G:p.L966V,IFT122:NM_001280541:exon25:c.C3052G:p.L1018V,IFT122:NM_052989:exon25:c.C3073G:p.L1025V,IFT122:NM_001280545:exon26:c.C2623G:p.L875V,IFT122:NM_052985:exon26:c.C3226G:p.L1076V	Cranioectodermal dysplasia 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1692152	not_provided|Cranioectodermal_dysplasia_1	MedGen:C3661900|MONDO:MONDO:0021093,MedGen:C0432235,OMIM:218330,Orphanet:1515	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.230	0.0705426468242	.	.	9.915e-05	0	0	0	0	0.0001	0	0.0002	8.41e-05	13	154602	rs778888913	6.772e-05	6.772e-05	4.9e-05	8.663e-05	8.115e-05	5.67e-05	5.26e-05	6.322e-05	5.824e-05	0	0	0	0	0	0	7.644e-05	0.0001	8.115e-05	3.941e-05	3.939e-05	7.705e-05	0	5.88e-05	1.715e-05	1.129e-05	1.972e-05	1.124e-05	2.412e-05	0	0	0	0	0	0	5.88e-05	0.0005	0	0.005	0.65419	D	0.006	0.72224	D	0.911	0.70673	P	0.646	0.74104	P	0.000001	0.84330	D	0.000000	1	0.81001	D	3.29	0.90338	M	-0.0	0.66113	T	-2.24	0.50830	N	0.836	0.84817	-0.2068	0.77496	T	0.445	0.78155	T	10	0.758286	0.76149	D	0.070543	0.71031	D	0.230	0.53062	0.337	0.32654	0.822958799421	0.82128	0.6403663915920894	0.63971	0.752351237728	0.63835	0.437108039856	0.30182	T	0.335628	0.70523	T	0.0360918	0.56531	T	0.0507355	0.73632	D	0.733193278312683	0.42376	D	0.948305	0.81867	D	0.33920765	0.56217	0.2722721	0.53136	0.33920765	0.56217	0.2722721	0.53135	-10.302	0.75969	D	0.5104194535731374	0.58424	0.217	0.49196	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.627165	0.51356	23.1	0.99848945851889681	0.92838	0.98117	0.79742	D	AEFBI	0.846226	0.76311	D	0.676450817290365	0.78089	6.801901	0.665828821173307	0.79796	7.158261	0.999999999999719	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.80507	0.99327	0	0.714379	0.83352	0	.	.	5.32	5.32	0.75377	5.942000	0.69916	6.002000	0.52504	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.666000	0.33137	0.0:1.0:0.0:0.0	19.014	0.92863	503	0.75780	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1017.44	33	chr3	129514474	.	C	G	1017.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.478;DP=269;ExcessHet=0;FS=0.793;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.43;ReadPosRankSum=2.65;SOR=0.823	GT:AD:DP:GQ:PL	0/1:43,46:89:99:1028,0,973	6	0	1	0
chr3	133935886	133935886	A	G	exonic	SLCO2A1	.	nonsynonymous SNV	SLCO2A1:NM_005630:exon13:c.T1702C:p.S568P	Hypertrophic osteoarthropathy, primary, autosomal recessive 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.314	0.0303637549323	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.50676	D	0.072	0.53788	T	0.96	0.55278	D	0.588	0.50402	P	0.000400	0.44960	D	0.255793	0.598237	0.32515	D	0.895	0.22405	L	0.21	0.59983	T	-2.67	0.59389	D	0.692	0.69737	-0.6723	0.61724	T	0.164	0.50045	T	10	0.7482154	0.75444	D	0.030364	0.52693	D	0.314	0.63588	0.757	0.88648	0.619681665072	0.61659	0.9880530354485982	0.98799	0.446697441316	0.44543	0.474733322859	0.35333	T	0.178283	0.52888	T	-0.0455271	0.45125	T	-0.303173	0.44390	T	0.978307008743286	0.72261	D	0.890711	0.62461	D	0.6579237	0.75787	0.6670326	0.80473	0.6579237	0.75789	0.6670326	0.80474	-9.455	0.70579	D	0.2305130102496536	0.31191	0.707	0.73260	P	.;.	.;.	2.663841	0.34712	19.70	0.94059241783754632	0.24193	0.11473	0.16657	N	AEFDBI	0.229164	0.35273	N	-0.627999110369051	0.18106	0.9373946	-0.749021122790219	0.15747	0.8296926	0.314185428029367	0.19318	0.638212	0.43195	0	0.59043	0.45803	0	0.602189	0.34648	0	0.668105	0.65232	0	.	.	5.4	-3.52	0.04383	0.734000	0.25769	0.023000	0.13619	-0.156000	0.11795	0.191000	0.24200	0.000000	0.08366	0.989000	0.64315	0.1614:0.8385:0.0:0.0	21.056	0.99947	713	0.56348	Major facilitator superfamily domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	282.63	35	chr3	133935886	.	A	G	282.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.239;DP=211;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.31;ReadPosRankSum=-1.926;SOR=0.583	GT:AD:DP:GQ:PL	0/1:20,14:34:99:293,0,480	6	0	1	0
chr3	151444930	151444930	C	G	exonic	IGSF10	.	nonsynonymous SNV	IGSF10:NM_001385061:exon5:c.G5051C:p.R1684T,IGSF10:NM_001385060:exon6:c.G5051C:p.R1684T,IGSF10:NM_178822:exon6:c.G5051C:p.R1684T,IGSF10:NM_001385062:exon7:c.G5051C:p.R1684T,IGSF10:NM_001385063:exon7:c.G5051C:p.R1684T	.	432	1088	2	0	0	2	0.000918274	.	.	.	1926653	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.632	0.0700473631754	7.7e-05	0.000199681	0.0002	0	8.703e-05	0.0001	0	0.0002	0.0012	0.0008	0.0001876	29	154602	rs149854696	0.0001	0.0001	0.0001	0.0001	0.0011	0.0001	0.0001	0.0005	0.0003	6.112e-05	2.386e-05	0	7.574e-05	0	0.0011	9.836e-05	0.0003	0.0004	8.533e-05	8.53e-05	6.422e-05	0.0001	0.0006	4.952e-05	3.959e-05	0.0002	8.996e-05	2.405e-05	0	0	0	0.0002	0	0	0.0001	0	0.0006	0.007	0.59928	D	0.008	0.67890	D	0.988	0.62325	D	0.932	0.66722	D	0.007439	0.31401	N	0.131561	0.992473	0.41655	D	1.145	0.29067	L	-1.34	0.79944	T	-4.2	0.75695	D	0.688	0.69387	0.006	0.82381	D	0.510	0.81594	D	10	0.4827483	0.60528	T	0.070047	0.70898	D	0.632	0.85872	.	.	0.906709791018	0.90577	0.7328133840573781	0.73226	0.195874411988	0.21946	0.360935628414	0.19522	T	0.147432	0.48552	T	-0.127947	0.31827	T	-0.0280496	0.68498	D	0.284865409135818	0.24375	T	0.777022	0.40965	T	0.22781971	0.45489	0.20458965	0.44590	0.22781971	0.45489	0.20458965	0.44589	-6.565	0.50785	T	.	.	0.206	0.43200	B	.	.	3.345280	0.46112	22.2	0.98367728546121269	0.40719	0.96101	0.67537	D	AEFBI	0.621162	0.60595	D	0.440931827933361	0.63691	4.607726	0.437148944297574	0.63895	4.632735	0.999997732116518	0.74766	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.86	4.99	0.65942	2.092000	0.41326	1.092000	0.23989	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.899000	0.43558	0.0:0.7187:0.0:0.2813	7.173	0.24905	813	0.42397	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.005848	0.000000	0.000000	0.000000	0.000000	0.07143	153.53	31	chr3	151444930	.	C	G	153.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.721;DP=198;ExcessHet=0;FS=4.043;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=6.14;ReadPosRankSum=1.65;SOR=0.193	GT:AD:DP:GQ:PL	0/1:16,9:25:99:164,0,448	6	0	1	0
chr3	155853645	155853645	G	C	exonic	SLC33A1	.	nonsynonymous SNV	SLC33A1:NM_001190992:exon1:c.C353G:p.P118R,SLC33A1:NM_001363883:exon1:c.C353G:p.P118R,SLC33A1:NM_004733:exon1:c.C353G:p.P118R	Congenital cataracts, hearing loss, and neurodegeneration, Autosomal recessive;Spastic paraplegia 42, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1016191	Hereditary_spastic_paraplegia_42	MONDO:MONDO:0012928,MedGen:C2675528,OMIM:612539,Orphanet:171863	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.936	0.221168805032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0016	0.0008	0.0007	0.0009	0.0007	0.0007	0.0008	0.0008	0.0009	0	0.0003	0.0002	0	0.0002	0.0008	0.0006	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.048477	1	0.81001	D	4.29	0.98219	H	-1.41	0.80560	T	-8.72	0.97670	D	0.955	0.96416	0.779	0.94149	D	0.787	0.92761	D	10	0.9656291	0.96041	D	0.221169	0.87793	D	0.936	0.98563	0.852	0.95318	0.981310105081	0.98110	0.9652344313428964	0.96510	2.3006740423	0.96469	0.845638930798	0.88955	D	0.814515	0.95400	D	0.434482	0.91756	D	0.386327	0.91654	D	0.999483108520508	0.97590	D	0.999658	0.99877	D	0.97771263	0.98930	0.9704348	0.99484	0.97771263	0.98930	0.9704348	0.99484	-15.861	0.97545	D	0.9924786288168476	0.99821	0.997	0.97160	P	.;.;.;.	.;.;.;.	5.657968	0.92855	33	0.99869421297510097	0.94726	0.91924	0.54558	D	AEFDBCI	.	.	.	1.03282578913964	0.96667	14.98475	0.957979052715463	0.97636	16.478	1.0	0.98316	0.542737	0.22433	0	0.52208	0.09955	0	0.685571	0.62057	0	0.56214	0.19341	0	.	.	5.57	5.57	0.84021	7.744000	0.83944	11.860000	0.98299	0.675000	0.71128	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	19.982	0.97333	839	0.37672	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2857	1059.78	58	chr3	155853645	.	G	C	1059.78	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-3.254;DP=580;ExcessHet=8.2628;FS=227.99;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=2.03;ReadPosRankSum=1.61;SOR=9.912	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:22,12:34:98:0|1:155853644_G_C:98,0,504:155853644	3	0	4	0
chr3	167626931	167626931	G	A	exonic	WDR49	.	nonsynonymous SNV	WDR49:NM_001348951:exon3:c.C527T:p.T176I,WDR49:NM_001348952:exon3:c.C527T:p.T176I,WDR49:NM_001366157:exon3:c.C527T:p.T176I	.	429	1081	12	0	0	12	0.00551978	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.00506168775717	.	0.00119808	0.0003	0	0	0	0	0.0008	0	0	0.0001682	26	154602	rs200481464	0.0004	0.0005	0.0003	0.0005	0.0064	0.0004	0.0004	0.0057	0.0054	0.0001	0	0	0	0	0.0046	0.0002	0.0006	0.0064	0.0004	0.0004	0.0003	0.0005	0.0062	0.0003	0.0003	0.0045	0.0039	0.0002	0	0	0	0	0	0.0034	0.0003	0	0.0062	0.103	0.30097	T	0.132	0.34477	T	0.003	0.11197	B	0.002	0.06944	B	.	.	.	.	0.968654	0.38675	D	.	.	.	1.46	0.32238	T	-2.06	0.47175	N	0.151	0.15469	-1.0745	0.08452	T	0.047	0.20037	T	8	0.0041234493	0.00081	T	0.005062	0.12815	T	0.041	0.10877	0.424	0.46857	0.107399877778	0.10242	.	.	.	.	.	.	.	.	.	.	-0.678847	0.00049	T	-0.743188	0.03758	T	0.0220016695243544	0.00909	T	0.516748	0.16963	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.096	0.15251	B	.;.	.;.	1.805868	0.22954	15.83	0.98768040598143059	0.45924	0.14174	0.18262	N	AEFI	0.055713	0.10240	N	-0.470689198749537	0.23045	1.234765	-0.402347576704262	0.24928	1.367896	1.28194475251406E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.51	0.864	0.18205	0.346000	0.19737	1.151000	0.24481	0.676000	0.76740	0.135000	0.23427	0.001000	0.17328	0.951000	0.49849	0.2383:0.1061:0.5372:0.1184	3.681	0.07844	806	0.43582	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	1831.34	33	chr3	167626931	.	G	A	1831.34	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.223;DP=256;ExcessHet=0.3476;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=16.21;ReadPosRankSum=-0.03;SOR=0.628	GT:AD:DP:GQ:PL	0/1:9,23:32:99:567,0,161	5	0	2	0
chr3	171014539	171014539	C	T	exonic	SLC2A2	.	nonsynonymous SNV	SLC2A2:NM_000340:exon3:c.G301A:p.V101I	Fanconi-Bickel syndrome, Autosomal recessive	0	1519	3	0	0	3	0.000986518	.	.	.	251005	Monogenic_diabetes|Fanconi-Bickel_syndrome|not_specified|not_provided	MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625|MONDO:MONDO:0009216,MedGen:C3495427,OMIM:227810,Orphanet:2088|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.464	.	0.0002	0.00319489	0.0014	0	0.0008	0.0148	0	0.0004	0.0011	0.0005	0.0013195	204	154602	rs1800572	0.0009	0.0009	0.0009	0.0009	0.0236	0.0009	0.0009	0.0223	0.0218	0	0.0010	0.0059	0.0236	7.488e-05	0.0007	6.655e-05	0.0012	0.0005	0.0009	0.0009	0.0009	0.0008	0.0158	0.0007	0.0007	0.0130	0.0120	0	0	0.0009	0.0063	0.0158	0	0	8.82e-05	0.0019	0.0006	0.001	0.78490	D	0.035	0.52389	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.045	0.86684	M	-1.15	0.77964	T	-0.89	0.24026	N	0.545	0.57177	0.344	0.88250	D	0.580	0.84867	D	10	0.01395154	0.00294	T	.	.	.	0.464	0.76023	.	.	0.921795024414	0.92100	0.7767031994767668	0.77620	0.564363956281	0.52821	0.548998773098	0.45716	T	0.414483	0.76802	T	-0.213721	0.18859	T	-0.0680951	0.65762	T	0.0910943406524676	0.11347	T	0.971803	0.89778	D	0.68906474	0.77461	0.7248556	0.83749	0.79933816	0.83864	0.8225538	0.89703	-11.285	0.81198	D	0.6984168083227051	0.77706	0.150	0.33063	B	.	.	4.771730	0.77247	26.7	0.99845895340126201	0.92576	0.96802	0.71018	D	AEFBHCI	0.954597	0.97181	D	1.02276450458692	0.96401	14.65175	0.977051219509457	0.98132	17.50214	1.0	0.98316	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	6.08	6.08	0.98982	7.538000	0.80960	7.619000	0.62229	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	20.274	0.98485	917	0.20147	Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001511	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.007576	0.07143	546.44	35	chr3	171014539	.	C	T	546.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.703;DP=233;ExcessHet=0;FS=2.735;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.01;ReadPosRankSum=1.18;SOR=1.27	GT:AD:DP:GQ:PL	0/1:18,24:42:99:557,0,413	6	0	1	0
chr3	171084316	171084316	G	C	exonic	TNIK	.	nonsynonymous SNV	TNIK:NM_001161566:exon23:c.C2732G:p.T911S,TNIK:NM_001161562:exon24:c.C2897G:p.T966S,TNIK:NM_001161564:exon24:c.C2819G:p.T940S,TNIK:NM_001161565:exon24:c.C2756G:p.T919S,TNIK:NM_001161560:exon25:c.C2984G:p.T995S,TNIK:NM_001161561:exon25:c.C2921G:p.T974S,TNIK:NM_001161563:exon25:c.C2843G:p.T948S,TNIK:NM_015028:exon26:c.C3008G:p.T1003S	Mental retardation, autosomal recessive 54, Autosomal recessive	436	1082	3	1	0	5	0.00230521	.	.	.	3616963	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.207	0.0456284094397	.	.	8.285e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs775260526	4.795e-06	4.788e-06	0	9.642e-06	0.0002	1.99e-06	1.28e-06	1.32e-06	9.6e-07	0	0	0	0	0	0.0002	4.502e-06	0	1.163e-05	1.315e-05	1.313e-05	1.285e-05	1.346e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	0.023	0.18885	B	0.006	0.19048	B	0.000104	0.50451	D	0.209316	0.999846	0.49770	D	-1.665	0.00379	N	-0.58	0.71543	T	0.53	0.02808	N	0.272	0.36464	-0.8481	0.52099	T	0.160	0.49430	T	10	0.13178965	0.25083	T	0.045628	0.62071	D	0.207	0.49555	0.155	0.05858	0.388425449554	0.38455	0.09796815822852498	0.09727	1.4902633655	0.86861	0.638772130013	0.58389	T	0.069642	0.33761	T	-0.0504929	0.44373	T	-0.310306	0.43625	T	0.413467685789284	0.29447	T	0.833717	0.50261	T	0.06842914	0.14907	0.11186005	0.26987	0.06842914	0.14907	0.11186005	0.26986	-5.085	0.38305	T	.	.	0.083	0.23640	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.082400	0.60735	24.3	0.61257909012908507	0.06664	0.99591	0.97770	D	AEFBI	0.917507	0.88521	D	-0.106709461922773	0.37101	2.153657	0.185725363354534	0.49065	3.114204	0.999999999990708	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.95	5.95	0.96415	9.518000	0.97064	8.693000	0.78083	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	20.373	0.98897	929	0.16858	.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	438.27	31	chr3	171084316	.	G	C	438.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.139;DP=235;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.19;ReadPosRankSum=1.53;SOR=0.709	GT:AD:DP:GQ:PL	0/1:24,19:43:99:448,0,613	5	0	1	1
chr3	183092428	183092428	T	G	exonic	MCCC1	.	nonsynonymous SNV	MCCC1:NM_020166:exon3:c.A254C:p.N85T	3-Methylcrotonyl-CoA carboxylase 1 deficiency, Autosomal recessive	0	1519	3	0	0	3	0.000986518	.	.	YES	686379	not_provided|3-methylcrotonyl-CoA_carboxylase_1_deficiency	MedGen:C3661900|MONDO:MONDO:0008861,MedGen:C0268600,OMIM:210200,Orphanet:6	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.505	0.060247653932	0.0004	0.000798722	0.0007	0	0.0010	0	0.0024	0.0008	0.0055	0.0001	0.0006468	100	154602	rs148616219	0.0006	0.0006	0.0006	0.0006	0.0019	0.0006	0.0006	0.0015	0.0014	0	0.0019	0	0	0.0021	0.0003	0.0006	0.0006	0.0001	0.0006	0.0006	0.0006	0.0005	0.0021	0.0005	0.0004	0.0015	0.0013	9.624e-05	0	0.0021	0	0	0.0011	0	0.0005	0.0024	0	0.007	0.59928	D	0.015	0.61642	D	0.661	0.40924	P	0.493	0.47443	P	0.003095	0.35449	N	0.368895	0.999169	0.81001	D	1.44	0.36004	L	-3.04	0.92357	D	-3.35	0.66436	D	0.362	0.41853	0.404	0.89149	D	0.719	0.90368	D	10	0.033333212	0.01506	T	0.060248	0.67936	D	0.505	0.78662	.	.	0.954511693739	0.95403	0.3638720573950276	0.36301	0.144292770925	0.16289	0.445167541504	0.31283	T	0.749681	0.93131	D	-0.310299	0.07722	T	-0.225763	0.52180	T	0.0778338438143122	0.09707	T	0.832417	0.50060	T	0.3546958	0.57430	0.24209572	0.49622	0.2597491	0.49028	0.291051	0.55128	-7.099	0.54753	T	0.28413475145972805	0.37988	0.121	0.25199	B	.;.	.;.	3.473151	0.48468	22.6	0.99120554879460221	0.52985	0.96659	0.70259	D	AEFDBI	0.369247	0.45605	N	0.16804248937398	0.49668	3.164721	0.179650624393382	0.48733	3.085304	0.998080565778982	0.36406	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.86	3.52	0.39415	3.159000	0.50430	0.883000	0.22411	0.665000	0.62972	1.000000	0.71638	0.739000	0.26469	0.239000	0.22975	0.0:0.1511:0.0:0.8489	9.063	0.35608	867	0.32089	Biotin carboxylase-like, N-terminal domain|Biotin carboxylation domain;Biotin carboxylase-like, N-terminal domain|Biotin carboxylation domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	344.49	37	chr3	183092428	.	T	G	344.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.604;DP=245;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=6.26;ReadPosRankSum=1.47;SOR=0.699	GT:AD:DP:GQ:PL	0/1:39,16:55:99:355,0,1022	6	0	1	0
chr3	183650946	183650946	A	C	exonic	KLHL24	.	nonsynonymous SNV	KLHL24:NM_001349415:exon2:c.A590C:p.D197A,KLHL24:NM_001349421:exon2:c.A590C:p.D197A,KLHL24:NM_001349423:exon2:c.A590C:p.D197A,KLHL24:NM_001349426:exon2:c.A590C:p.D197A,KLHL24:NM_001349413:exon3:c.A590C:p.D197A,KLHL24:NM_001349414:exon3:c.A590C:p.D197A,KLHL24:NM_001349416:exon3:c.A590C:p.D197A,KLHL24:NM_001349422:exon3:c.A590C:p.D197A,KLHL24:NM_001349424:exon3:c.A590C:p.D197A,KLHL24:NM_001349425:exon3:c.A590C:p.D197A,KLHL24:NM_017644:exon3:c.A590C:p.D197A,KLHL24:NM_001349417:exon4:c.A590C:p.D197A,KLHL24:NM_001349418:exon4:c.A590C:p.D197A,KLHL24:NM_001349419:exon4:c.A590C:p.D197A,KLHL24:NM_001349420:exon4:c.A590C:p.D197A	Epidermolysis bullosa simplex, generalized, with scarring and hair loss, Autosomal dominant	432	1084	5	1	0	7	0.00321839	.	.	.	1523731	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.348	.	0.0003	0.00599042	0.0019	0.0005	0.0002	0.0125	0	0.0001	0.0011	0.0068	0.0018305	283	154602	rs116961268	0.0008	0.0008	0.0006	0.0009	0.0087	0.0007	0.0007	0.0080	0.0077	0.0002	0.0001	0	0.0087	0	0.0007	4.137e-05	0.0017	0.0069	0.0010	0.0010	0.0009	0.0012	0.0166	0.0009	0.0009	0.0137	0.0127	0.0006	0	0.0001	0	0.0166	0	0	4.41e-05	0.0009	0.0089	0.046	0.53900	D	0.091	0.40110	T	0.062	0.35307	B	0.156	0.34472	B	0.000000	0.84330	D	0.045811	1	0.81001	D	1.01	0.25309	L	-0.29	0.67712	T	-2.84	0.60507	D	0.515	0.54845	-0.7289	0.59019	T	0.158	0.49060	T	10	0.0114785135	0.00251	T	.	.	.	0.348	0.66956	.	.	0.707274339945	0.70472	0.41660315236054946	0.41576	1.05958384172	0.76439	0.701718389988	0.67392	T	0.345341	0.71374	T	-0.15625	0.27338	T	0.015105	0.71314	D	0.0374139820121399	0.03229	T	0.908709	0.67605	D	0.5138417	0.67903	0.42045227	0.66007	0.54479015	0.69666	0.41281572	0.65473	-4.59	0.32260	T	0.13642190165765816	0.14919	0.086	0.14568	B	.;.;.	.;.;.	4.088087	0.60867	24.3	0.99198071734910087	0.55201	0.99447	0.96143	D	AEFBI	0.583771	0.58286	D	0.0311011034557449	0.43274	2.623571	0.187779477772195	0.49175	3.124039	0.999999973448769	0.74766	0.67177	0.52595	0	0.670034	0.63936	0	0.608884	0.39905	0	0.711	0.71501	0	.	.	5.3	5.3	0.74745	8.947000	0.92735	11.284000	0.91844	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	1.0:0.0:0.0:0.0	15.245	0.73196	428	0.80967	BTB/Kelch-associated|BTB/Kelch-associated;BTB/Kelch-associated|BTB/Kelch-associated;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002518	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.015152	0.07143	1003.44	72	chr3	183650946	.	A	C	1003.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.282;DP=445;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.2;ReadPosRankSum=-0.4;SOR=0.691	GT:AD:DP:GQ:PL	0/1:37,39:76:99:1014,0,1025	6	0	1	0
chr3	184368264	184368264	T	A	exonic	POLR2H	.	nonsynonymous SNV	POLR2H:NM_001278698:exon5:c.T487A:p.L163I,POLR2H:NM_001346879:exon5:c.T379A:p.L127I	.	429	1086	7	0	0	7	0.00321248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	.	0.0054	0.00299521	0.0059	0.0020	0.0038	0	0.0032	0.0090	0.0023	0.0013	0.0055756	862	154602	rs41543313	0.0064	0.0064	0.0067	0.0062	0.0077	0.0063	0.0063	0.0076	0.0075	0.0012	0.0036	0.0005	0	0.0024	0.0040	0.0077	0.0061	0.0011	0.0047	0.0047	0.0054	0.0040	0.0081	0.0044	0.0043	0.0076	0.0073	0.0013	0.0055	0.0046	0.0003	0	0.0020	0.0102	0.0081	0.0038	0.0004	0.0	0.91255	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	-0.14	0.09135	N	0.203	0.22486	-0.3618	0.73210	T	0.222	0.58498	T	5	0.004061103	0.00079	T	.	.	.	0.079	0.23065	.	.	0.243187853663	0.23924	0.30279045500957597	0.30192	.	.	.	.	.	.	.	.	-0.528573	0.00392	T	-0.525354	0.19754	T	0.0257210508345898	0.01369	T	0.259974	0.04152	T	.	.	.	.	.	.	.	.	-4.934	0.36115	T	.	.	0.083	0.09288	B	.	.	0.110803	0.05102	1.635	0.86846517202047036	0.16812	0.39277	0.26177	N	AEBCI	0.070818	0.14074	N	-0.427388170555457	0.24512	1.324108	-0.53313488273555	0.21255	1.149004	0.999997583904363	0.74766	0.722319	0.85440	0	0.724815	0.89359	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	5.74	-6.8	0.01548	-0.521000	0.06331	-1.324000	0.05715	-0.122000	0.13826	0.163000	0.23839	0.000000	0.08366	0.995000	0.73285	0.0:0.0639:0.6444:0.2917	13.273	0.59607	881	0.29269	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002518	0.005051	0.002717	0.002924	0.000000	0.000000	0.000000	0.003788	0.07143	407.83	35	chr3	184368264	.	T	A	407.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.858;DP=201;ExcessHet=0;FS=1.657;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.69;ReadPosRankSum=0;SOR=1.179	GT:AD:DP:GQ:PL	0/1:11,15:26:99:418,0,275	6	0	1	0
chr3	185496952	185496952	T	C	exonic	TMEM41A	.	nonsynonymous SNV	TMEM41A:NM_080652:exon2:c.A149G:p.E50G	.	418	1095	9	0	0	9	0.00409277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.270	.	0.0018	0.00279553	0.0058	0.0010	0.0023	0	0.0299	0.0071	0.0049	0.0027	0.0030401	470	154602	rs149580105	0.0045	0.0045	0.0045	0.0045	0.0044	0.0044	0.0043	0.0043	0.0042	0.0007	0.0022	0.0044	0	0.0186	0.0030	0.0044	0.0039	0.0023	0.0040	0.0040	0.0033	0.0047	0.0044	0.0037	0.0036	0.0040	0.0038	0.0006	0	0.0039	0.0052	0.0002	0.0169	0	0.0044	0.0057	0.0017	0.009	0.57480	D	0.21	0.35455	T	0.714	0.42167	P	0.349	0.42787	B	0.000042	0.53742	D	0.158846	0.999996	0.58761	D	2.12	0.58754	M	.	.	.	-4.71	0.86758	D	0.76	0.76203	-0.2591	0.76112	T	0.322	0.69099	T	9	0.009613246	0.00216	T	.	.	.	0.270	0.58507	.	.	0.200317383148	0.19677	0.759119006883672	0.75859	0.288874388645	0.31295	0.758190274239	0.75661	T	0.137538	0.47052	T	-0.0836313	0.39122	T	0.108184	0.77452	D	0.0398559482146474	0.03663	T	0.918508	0.70719	D	0.28850517	0.51853	0.41023013	0.65289	0.28850517	0.51853	0.41023013	0.65289	-7.194	0.55438	T	.	.	0.453	0.62361	A	.;.	.;.	4.433153	0.68763	25.3	0.99890568321999507	0.96436	0.98692	0.85647	D	AEFBI	0.671806	0.63842	D	0.57687192193847	0.71733	5.695974	0.59363891028568	0.74483	6.144599	0.999999993337978	0.74766	0.732398	0.92422	0	0.672317	0.65289	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.43	5.43	0.79006	5.951000	0.69992	7.893000	0.73158	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.0:0.0:1.0	15.469	0.75152	766	0.49742	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002546	0.000000	0.002717	0.000000	0.000000	0.000000	0.006250	0.003846	0.07143	198.63	27	chr3	185496952	.	T	C	198.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.478;DP=198;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.64;ReadPosRankSum=-0.468;SOR=0.766	GT:AD:DP:GQ:PL	0/1:15,11:26:99:209,0,372	6	0	1	0
chr3	195779432	195779432	G	0	exonic	MUC4	.	.	.	.	488	764	33	32	205	302	0.0596923	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	5076.52	56	chr3	195779432	.	G	*	5076.52	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-2.918;DP=1202;ExcessHet=0.0509;FS=0.521;MLEAC=5;MLEAF=0.357;MQ=59.66;MQRankSum=0.053;QD=5.16;ReadPosRankSum=0.117;SOR=0.787	GT:AD:DP:GQ:PL	1/1:2,54:56:84:2335,84,0	4	2	1	0
chr3	195779602	195779602	A	0	exonic	MUC4	.	.	.	.	601	683	22	17	199	255	0.0393812	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	12666.1	121	chr3	195779602	.	A	*	12666.1	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-0.629;DP=1059;ExcessHet=0.0509;FS=0.52;MLEAC=3;MLEAF=0.214;MQ=56.52;MQRankSum=-11.84;QD=12.89;ReadPosRankSum=-5.273;SOR=0.643	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,93:93:99:1|1:195779564_T_G:4016,280,0:195779564	5	1	1	0
chr3	195779628	195779724	GGGGGTGGCGTGACCTGTGGATGCTGAGGAACGGCTGGTGACAGGAAGAGAGGTGGCGTGACCTGTGGATACTGAGGAAGTGTCGGTGACAGGAAGA	0	exonic	MUC4	.	.	.	.	868	396	38	54	166	312	0.15565	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.375	5471.18	123	chr3	195779628	.	GGGGGTGGCGTGACCTGTGGATGCTGAGGAACGGCTGGTGACAGGAAGAGAGGTGGCGTGACCTGTGGATACTGAGGAAGTGTCGGTGACAGGAAGA	*	5471.18	.	AC=3;AF=0.375;AN=8;DP=1142;ExcessHet=0;FS=1.099;MLEAC=4;MLEAF=0.5;MQ=54.52;QD=8.66;SOR=0.768	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:2,93:95:99:1|1:195779564_T_G:3883,194,0:195779564	2	1	1	3
chr3	195779882	195779882	G	0	exonic	MUC4	.	.	.	.	827	38	93	396	168	1053	0.920916	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	20882.0	118	chr3	195779882	.	G	*	20882.0	.	AC=5;AF=0.5;AN=10;DP=1301;ExcessHet=0;FS=0;MLEAC=6;MLEAF=0.6;MQ=59.19;QD=20.9;SOR=0.774	GT:AD:DP:GQ:PL	1/1:0,60:60:99:2652,193,0	2	2	1	2
chr3	195782503	195782647	TGAAGAGGGGTGGCGTGACCTGTGGATATTGAGGAAGTGTCGGTGACAGGAAGAGAGGTGGCGTGACCTATGGATGCTGAGGAAGTGTCGGTGACAGGAAGAAGGGTGGCGTGACCTGTGGATGCTGAGGAAGTGTCGGTGTCAG	0	exonic	MUC4	.	.	.	.	472	931	6	0	113	119	0.00321199	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	2139.23	252	chr3	195782503	.	TGAAGAGGGGTGGCGTGACCTGTGGATATTGAGGAAGTGTCGGTGACAGGAAGAGAGGTGGCGTGACCTATGGATGCTGAGGAAGTGTCGGTGACAGGAAGAAGGGTGGCGTGACCTGTGGATGCTGAGGAAGTGTCGGTGTCAG	*	2139.23	.	AC=4;AF=0.286;AN=14;BaseQRankSum=5.31;DP=2956;ExcessHet=0.4813;FS=0;MLEAC=4;MLEAF=0.286;MQ=53.38;MQRankSum=-6.898;QD=1.27;ReadPosRankSum=0.882;SOR=0.716	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:3,83:86:99:.:.:3492,150,0:.	4	1	2	0
chr3	195783104	195783104	-	TGC	exonic	MUC4	.	nonframeshift insertion	MUC4:NM_018406:exon2:c.8475_8476insGCA:p.V2825_F2826insA	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0	0.0026	0	0	0.0004	0	0.0001	.	.	.	rs747911780	0.0002	0.0037	0.0001	0.0002	0.0007	0.0001	0.0001	0.0001	0.0001	0	0.0002	0.0003	0	8.776e-05	0.0007	0.0001	0.0003	0.0002	3.838e-05	0.0018	4.514e-05	3.135e-05	0.0001	1.422e-05	9.15e-06	2.526e-05	1.006e-05	3.07e-05	0	0.0001	0	0	0	0	1.689e-05	0.0006	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	354.04	204	chr3	195783104	.	A	ATGC	354.04	.	AC=2;AF=0.25;AN=8;DP=2281;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.375;MQ=53.7;QD=33.92;SOR=1.609	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,10:10:30:1|1:195783103_A_G:369,30,0:195783103	3	1	0	3
chr3	195783346	195783346	A	0	exonic	MUC4	.	.	.	.	1082	70	139	167	64	537	0.771615	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	7098.27	66	chr3	195783346	.	A	*	7098.27	.	AC=4;AF=0.5;AN=8;BaseQRankSum=0.974;DP=524;ExcessHet=0;FS=1.29;MLEAC=5;MLEAF=0.625;MQ=51.46;MQRankSum=1.1;QD=20.28;ReadPosRankSum=0.963;SOR=0.974	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,40:40:86:.:.:942,86,0:.	2	2	0	3
chr3	195783357	195783357	C	0	exonic	MUC4	.	.	.	.	804	505	66	83	64	296	0.186795	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	1842.25	56	chr3	195783357	.	C	*	1842.25	.	AC=4;AF=0.667;AN=6;BaseQRankSum=1.05;DP=767;ExcessHet=0;FS=0;MLEAC=6;MLEAF=1;MQ=47.69;MQRankSum=1.66;QD=10.12;ReadPosRankSum=-0.546;SOR=0.899	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,40:40:86:.:.:942,86,0:.	1	2	0	4
chr3	195783367	195783367	A	0	exonic	MUC4	.	.	.	.	717	615	72	57	61	247	0.131356	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	1555.99	49	chr3	195783367	.	A	*	1555.99	.	AC=4;AF=0.5;AN=8;BaseQRankSum=1.15;DP=650;ExcessHet=0;FS=1.245;MLEAC=5;MLEAF=0.625;MQ=46.52;MQRankSum=1.6;QD=8.89;ReadPosRankSum=-2.405;SOR=0.522	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,40:40:86:.:.:942,86,0:.	2	2	0	3
chr3	195783379	195783379	G	0	exonic	MUC4	.	.	.	.	3	172	18	18	15	69	0.135678	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	1047.22	38	chr3	195783379	.	G	*	1047.22	.	AC=4;AF=0.333;AN=12;BaseQRankSum=1.23;DP=614;ExcessHet=0;FS=2.659;MLEAC=4;MLEAF=0.333;MQ=44.23;MQRankSum=0.989;QD=6.39;ReadPosRankSum=-3.715;SOR=0.399	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,40:40:86:.:.:942,86,0:.	4	2	0	1
chr3	195783381	195783383	GTC	0	exonic	MUC4	.	.	.	.	696	688	46	34	58	172	0.0765101	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	880.89	34	chr3	195783381	.	GTC	*	880.89	.	AC=4;AF=0.5;AN=8;BaseQRankSum=2.33;DP=606;ExcessHet=0;FS=2.671;MLEAC=5;MLEAF=0.625;MQ=44.19;MQRankSum=0.774;QD=5.51;ReadPosRankSum=-3.835;SOR=0.39	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,40:40:86:.:.:942,86,0:.	2	2	0	3
chr3	195783395	195783395	A	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	246.26	20	chr3	195783395	.	A	*	246.26	.	AC=4;AF=0.333;AN=12;BaseQRankSum=3.49;DP=337;ExcessHet=0;FS=4.245;MLEAC=4;MLEAF=0.333;MQ=41.9;MQRankSum=-1.128;QD=1.69;ReadPosRankSum=-2.593;SOR=0.307	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,40:40:86:.:.:942,86,0:.	4	2	0	1
chr3	195783400	195783400	G	0	exonic	MUC4	.	.	.	.	581	868	25	28	20	101	0.044579	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	127.26	44	chr3	195783400	.	G	*	127.26	.	AC=4;AF=0.333;AN=12;BaseQRankSum=1.61;DP=381;ExcessHet=0;FS=5.721;MLEAC=4;MLEAF=0.333;MQ=54.17;MQRankSum=-3.071;QD=0.75;ReadPosRankSum=-3.221;SOR=1.207	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,40:40:86:.:.:942,86,0:.	4	2	0	1
chr3	195783422	195783422	A	0	exonic	MUC4	.	.	.	.	663	798	25	28	8	89	0.0483005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	31.31	40	chr3	195783422	.	A	*	31.31	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-0.015;DP=362;ExcessHet=0;FS=5.555;MLEAC=4;MLEAF=0.333;MQ=53.65;MQRankSum=5.07;QD=0.19;ReadPosRankSum=-4.06;SOR=0.264	GT:AD:DP:GQ:PL	1/1:0,40:40:86:942,86,0	4	2	0	1
chr3	195783455	195783599	CGGTGACAGGAAGAGAGGTGGTGTCACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGAGGTGGCATGACCGGTGGATGCTGAGGAAGGGCTAGTGACAGGAAGAGGCGTGGTGTCACCTGTGGATACTGAGGAAAGGCT	0	exonic	MUC4	.	.	.	.	589	869	23	27	14	91	0.0424242	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	213.41	34	chr3	195783455	.	CGGTGACAGGAAGAGAGGTGGTGTCACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGAGGTGGCATGACCGGTGGATGCTGAGGAAGGGCTAGTGACAGGAAGAGGCGTGGTGTCACCTGTGGATACTGAGGAAAGGCT	*	213.41	.	AC=4;AF=0.286;AN=14;DP=259;ExcessHet=0;FS=0;MLEAC=4;MLEAF=0.286;MQ=28.79;QD=1.59;SOR=1.153	GT:AD:DP:GQ:PL	1/1:0,40:40:86:942,86,0	5	2	0	0
chr3	195783896	195783896	-	AAGAGGGGTGGCGTGACCGGTGGATGCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCATGACCTGTGGATACTGAGGAAGTGTCGGTGACAGA	exonic	MUC4	.	nonframeshift insertion	MUC4:NM_018406:exon2:c.7683_7684insTCTGTCACCGACACTTCCTCAGTATCCACAGGTCATGCCACCCCTCTTCATGTCACCAGCCCTTCCTCAGCATCCACCGGTCACGCCACCCCTCTT:p.L2561_P2562insSVTDTSSVSTGHATPLHVTSPSSASTGHATPL,MUC4:NM_001322468:exon7:c.7635_7636insTCTGTCACCGACACTTCCTCAGTATCCACAGGTCATGCCACCCCTCTTCATGTCACCAGCCCTTCCTCAGCATCCACCGGTCACGCCACCCCTCTT:p.S2547_A4615delinsVTDTSSVSTGHATPLHVTSPSSASTGHATPLSSTGDTTPLLVTETSSASTGHATPLHVTSPSSASTGDTTPVPVTDTSSVSTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSASTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSVSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSVSTGHATPLPLTSLSSVSTGDTTTLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSVSTGHATPLPVTSLSSVSTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSRGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLPVTSTSSASTGHATSLPVTDTSSVSTGHATSLPVTDTSSVSTGHATPLPVTDASSVSTGHATPLPVTDASSASTGDTTPLPVTNTSSASTGQATPLPVTSLSSVSTGDTMPLPVTSPSSASTGHATPLPVTGLSSASTGDTTPLPVTDTSSASTGHVTPLPVTSLSSASTGDSTPLPVTDTSSASTGHVTPLPVTSLSSASTGDTTPLPVTDTSSASTGHATPLHVTDASSASTGQATLLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDTSSASTGHATPLPVTDASSVSTGHATSLPVTIRSSGSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTMPLPVTSPSSASTGDTTPLPVTDASSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTTSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHATPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATSLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTNVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLHVTDASSVSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTDTSSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGHTTSLPVTDASSVSTGHATSLPVTIPSSASSGHTTPLPVTDASSVPTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPVTDTSSVSTGQATPLPVTSLSSASSTGDTTPLPVTDTSSASTGQDTPLPVTSLFSVSTGDTTPLPVTSPSSASTGHATHLLVTDASSVSTGHATSLLVTDASSVSTGHATALHVTDASSLSTGDTTPLPVTSPSSASTGDTTPLPVTDTSSVSTGHATSLPVTDTSSASTGHATSLPVTDTSSASTGQATPLPVTSPSSASTGHAIPLLVTDTSSASTGQATPLPVTSLSSASTGDTTPLPVTDASSVSTGHATSLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTSPSSASTGHATPLHVTDASSVSTGDTTPLPVTSPSSASSGHTTPLPVTDASSASTGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTDVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLPVTDTPSASTGDTTPLPVTNASSLSTRHATSLHVTSPSSASTGHATPLPVTDTSAASTGHATPLPVTSTSSASTGDTTPLPVTDTSSASTGHATPLPVTNTSSVSTGHATPLHVTSPSSASTGHTTPLPVTDASSVSTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPLTSLSSVSTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTDTSSASTGHATSLPVTDTSSASTGHATPLPVTDTSSISTGHATPLHVTSPSSASTGHATPLPVTDTSSASTGHATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATSLPVTDTSSASTGDTTSLPVTDTSSAYTGDTTSLPVTDTSSSSTGDTTPLLVTETSSASTGDTTPVPVTDTSSVSTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSVSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSLASTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSASTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVSDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSTGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLHVTSPSSSSTGQATPLPVTSTSSVSTGHVTPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTDASSVSTGHATPLPVTDTSSASTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGHATPLAVSSATSASTVSSDSPLKMETSGMTTPSLKTDGGRRTATSPPPTTSQTIISTIPSTAMHTRSTAAPIPILPERGVSLFPYGADAGDLEFVRRTVDFTSPLFKPATGFPLGSSLRDSLYFTDNGQIIFPESDYQIFSYPNPLPTGFTGRDPVALVAPFWDDADFSTGRGTTFYQEYETFYGEHSLLVQQAESWIRKMTNNGGYKARWALKVTWVNAHAYPAQWTLGSNTYQAILSTDGSRSYALFLYQSGGMQWDVAQRSGNPVLMGFSSGDGYFENSPLMSQPVWERYRPDRFLNSNSGLQGLQFYRLHREERPNYRLECLQWLKSQPRWPSWGWNQVSCPCSWQQGRRDLRFQPVSIGRWGLGSRQLCSFTSWRGGVCCSYGPWGEFREGWHVQRPWQLAQELEPQSWCCRWNDKPYLCALYQQRRPHVGCATYRPPQPAWMFGDPHITTLDGVSYTFNGLGDFLLVGAQDGNSSFLLQGRTAQTGSAQATNFIAFAAQYRSSSLGPVTVQWLLEPHDAIRVLLDNQTVTFQPDHEDGGGQETFNATGVLLSRNGSEVSASFDGWATVSVIALSNILHASASLPPEYQNRTEGLLGVWNNNPEDDFRMPNGSTIPPGSPEEMLFHFGMTWQINGTGLLGKRNDQLPSNFTPVFYSQLQKNSSWAEHLISNCDGDSSCIYDTLALRNASIGLHTREVSKNYEQANATLNQYPPSINGGRVIEAYKGQTTLIQYTSNAEDANFTLRDSCTDLELFENGTLLWTPKSLEPFTLEILARSAKIGLASALQPRTVVCHCNAESQCLYNQTSRVGNSSLEVAGCKCDGGTFGRYCEGSEDACEEPCFPSVHCVPGKGCEACPPNLTGDGRHCAALGSSFLCQNQSCPVNYCYNQGHCYISQTLGCQPMCTCPPAFTDSRCFLAGNNFSPTVNLELPLRVIQLLLSEEENASMAEVNASVAYRLGTLDMRAFLRNSQVERIDSAAPASGSPIQHWMVISEFQYRPRGPVIDFLNNQLLAAVVEAFLYHVPRRSEEPRNDVVFQPISGEDVRDVTALNVSTLKAYFRCDGYKGYDLVYSPQSGFTCVSPCSRGYCDHGGQCQHLPSGPRCSCVSFSIYTAWGEHCEHLSMKLDAFFGIFFGALGGLLLLGVGTFVVLRFWGCSGARFSYFLNSAEALP*	.	442	951	27	0	102	129	0.0139969	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0034	0.0029	0.0045	0	0	0.0049	0.0090	0.0027	0.0004916	76	154602	.	0.0040	0.0071	0.0039	0.0042	0.0239	0.0039	0.0039	0.0196	0.0180	0.0026	0.0060	0.0070	0	0.0071	0.0239	0.0037	0.0065	0.0041	0.0018	0.0063	0.0021	0.0015	0.0024	0.0016	0.0015	0.0021	0.0020	0.0010	0.0026	0.0024	0.0003	0	0.0015	0	0.0024	0.0012	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	5445.4	185	chr3	195783896	.	G	GAAGAGGGGTGGCGTGACCGGTGGATGCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCATGACCTGTGGATACTGAGGAAGTGTCGGTGACAGA	5445.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.343;DP=2765;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=55.48;MQRankSum=-3.24;QD=32.96;ReadPosRankSum=1.61;SOR=0.732	GT:AD:DP:GQ:PL	0/1:18,51:69:45:5456,0,45	6	0	1	0
chr3	195784271	195784271	T	0	exonic	MUC4	.	.	.	.	445	567	491	0	19	510	0.302154	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	14935.4	582	chr3	195784271	.	T	*	14935.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.066;DP=4674;ExcessHet=2.5225;FS=0.568;MLEAC=1;MLEAF=0.071;MQ=59.35;MQRankSum=-6.32;QD=5.66;ReadPosRankSum=-1.338;SOR=0.728	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:410,85:495:99:.:.:1191,0,16342:.	6	0	1	0
chr3	195784299	195784299	T	0	exonic	MUC4	.	.	.	.	418	1069	19	1	15	36	0.00972673	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	101.63	582	chr3	195784299	.	T	*	101.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.343;DP=4608;ExcessHet=0.3476;FS=2.408;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=0.19;ReadPosRankSum=1.65;SOR=0.946	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:410,85:495:99:.:.:1191,0,16342:.	6	0	1	0
chr3	195784560	195784655	AGTGACAGGAAGAGGCGTGGTGTCACCTGTGGATGCTGAGGAAAGGCTGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTC	-	exonic	MUC4	.	nonframeshift deletion	MUC4:NM_018406:exon2:c.6925_7020del:p.D2309_T2340del,MUC4:NM_001322468:exon7:c.6877_6972del:p.L2297_A4615delinsPLHVTSPSSASTGHATPLPVTDTSSASTGHANPLHVTSPSSASTGHATPLPVTDTSSASTGHATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGQATALPVTSTSSASTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSASTGQATPLPVTDTSSAYTGDTTSLPVTDTSSSSTGDTTPLLVTETSSASTGHATPLHVTSPSSASTGDTTPVPVTDTSSVSTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSASTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSVSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSVSTGHATPLPLTSLSSVSTGDTTTLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSVSTGHATPLPVTSLSSVSTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSRGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLPVTSTSSASTGHATSLPVTDTSSVSTGHATSLPVTDTSSVSTGHATPLPVTDASSVSTGHATPLPVTDASSASTGDTTPLPVTNTSSASTGQATPLPVTSLSSVSTGDTMPLPVTSPSSASTGHATPLPVTGLSSASTGDTTPLPVTDTSSASTGHVTPLPVTSLSSASTGDSTPLPVTDTSSASTGHVTPLPVTSLSSASTGDTTPLPVTDTSSASTGHATPLHVTDASSASTGQATLLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDTSSASTGHATPLPVTDASSVSTGHATSLPVTIRSSGSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTMPLPVTSPSSASTGDTTPLPVTDASSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTTSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHATPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATSLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTNVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLHVTDASSVSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTDTSSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGHTTSLPVTDASSVSTGHATSLPVTIPSSASSGHTTPLPVTDASSVPTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPVTDTSSVSTGQATPLPVTSLSSASSTGDTTPLPVTDTSSASTGQDTPLPVTSLFSVSTGDTTPLPVTSPSSASTGHATHLLVTDASSVSTGHATSLLVTDASSVSTGHATALHVTDASSLSTGDTTPLPVTSPSSASTGDTTPLPVTDTSSVSTGHATSLPVTDTSSASTGHATSLPVTDTSSASTGQATPLPVTSPSSASTGHAIPLLVTDTSSASTGQATPLPVTSLSSASTGDTTPLPVTDASSVSTGHATSLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTSPSSASTGHATPLHVTDASSVSTGDTTPLPVTSPSSASSGHTTPLPVTDASSASTGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTDVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLPVTDTPSASTGDTTPLPVTNASSLSTRHATSLHVTSPSSASTGHATPLPVTDTSAASTGHATPLPVTSTSSASTGDTTPLPVTDTSSASTGHATPLPVTNTSSVSTGHATPLHVTSPSSASTGHTTPLPVTDASSVSTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPLTSLSSVSTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTDTSSASTGHATSLPVTDTSSASTGHATPLPVTDTSSISTGHATPLHVTSPSSASTGHATPLPVTDTSSASTGHATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATSLPVTDTSSASTGDTTSLPVTDTSSAYTGDTTSLPVTDTSSSSTGDTTPLLVTETSSASTGDTTPVPVTDTSSVSTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSVSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSLASTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSASTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVSDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSTGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLHVTSPSSSSTGQATPLPVTSTSSVSTGHVTPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTDASSVSTGHATPLPVTDTSSASTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGHATPLAVSSATSASTVSSDSPLKMETSGMTTPSLKTDGGRRTATSPPPTTSQTIISTIPSTAMHTRSTAAPIPILPERGVSLFPYGADAGDLEFVRRTVDFTSPLFKPATGFPLGSSLRDSLYFTDNGQIIFPESDYQIFSYPNPLPTGFTGRDPVALVAPFWDDADFSTGRGTTFYQEYETFYGEHSLLVQQAESWIRKMTNNGGYKARWALKVTWVNAHAYPAQWTLGSNTYQAILSTDGSRSYALFLYQSGGMQWDVAQRSGNPVLMGFSSGDGYFENSPLMSQPVWERYRPDRFLNSNSGLQGLQFYRLHREERPNYRLECLQWLKSQPRWPSWGWNQVSCPCSWQQGRRDLRFQPVSIGRWGLGSRQLCSFTSWRGGVCCSYGPWGEFREGWHVQRPWQLAQELEPQSWCCRWNDKPYLCALYQQRRPHVGCATYRPPQPAWMFGDPHITTLDGVSYTFNGLGDFLLVGAQDGNSSFLLQGRTAQTGSAQATNFIAFAAQYRSSSLGPVTVQWLLEPHDAIRVLLDNQTVTFQPDHEDGGGQETFNATGVLLSRNGSEVSASFDGWATVSVIALSNILHASASLPPEYQNRTEGLLGVWNNNPEDDFRMPNGSTIPPGSPEEMLFHFGMTWQINGTGLLGKRNDQLPSNFTPVFYSQLQKNSSWAEHLISNCDGDSSCIYDTLALRNASIGLHTREVSKNYEQANATLNQYPPSINGGRVIEAYKGQTTLIQYTSNAEDANFTLRDSCTDLELFENGTLLWTPKSLEPFTLEILARSAKIGLASALQPRTVVCHCNAESQCLYNQTSRVGNSSLEVAGCKCDGGTFGRYCEGSEDACEEPCFPSVHCVPGKGCEACPPNLTGDGRHCAALGSSFLCQNQSCPVNYCYNQGHCYISQTLGCQPMCTCPPAFTDSRCFLAGNNFSPTVNLELPLRVIQLLLSEEENASMAEVNASVAYRLGTLDMRAFLRNSQVERIDSAAPASGSPIQHWMVISEFQYRPRGPVIDFLNNQLLAAVVEAFLYHVPRRSEEPRNDVVFQPISGEDVRDVTALNVSTLKAYFRCDGYKGYDLVYSPQSGFTCVSPCSRGYCDHGGQCQHLPSGPRCSCVSFSIYTAWGEHCEHLSMKLDAFFGIFFGALGGLLLLGVGTFVVLRFWGCSGARFSYFLNSAEALP*	.	515	990	6	1	10	18	0.00402414	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0075	0.0062	0.0072	0	0.0029	0.0141	0.0133	0.0026	0.0013063	34	26028	.	0.0015	0.0016	0.0013	0.0017	0.0073	0.0014	0.0014	0.0049	0.0042	0.0015	0.0011	0.0017	0.0003	0.0028	0.0073	0.0015	0.0023	0.0006	0.0054	0.0063	0.0059	0.0049	0.0068	0.0050	0.0049	0.0062	0.0060	0.0034	0.0048	0.0063	0.0058	0	0.0041	0	0.0068	0.0048	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	2895.4	239	chr3	195784559	.	TAGTGACAGGAAGAGGCGTGGTGTCACCTGTGGATGCTGAGGAAAGGCTGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTC	T	2895.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.63;DP=2419;ExcessHet=0;FS=5.073;MLEAC=1;MLEAF=0.071;MQ=54.01;MQRankSum=1.6;QD=9.46;ReadPosRankSum=-3.748;SOR=0.738	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:220,86:306:99:0|1:195784559_TAGTGACAGGAAGAGGCGTGGTGTCACCTGTGGATGCTGAGGAAAGGCTGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTC_T:2906,0,8810:195784559	6	0	1	0
chr3	195784574	195784575	GC	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	29567.6	239	chr3	195784574	.	GC	*	29567.6	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.73;DP=2609;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=55.86;MQRankSum=-7.888;QD=23.75;ReadPosRankSum=-2.793;SOR=0.691	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,86:284:99:1|0:195784559_TAGTGACAGGAAGAGGCGTGGTGTCACCTGTGGATGCTGAGGAAAGGCTGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTC_T:11053,7438,8006:195784559	6	0	1	0
chr3	195784576	195784719	GTGGTGTCACCTGTGGATGCTGAGGAAAGGCTGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGGGCTAGTGACAGGAAGAGGA	0	exonic	MUC4	.	.	.	.	534	906	66	8	8	90	0.0432946	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	29370.5	160	chr3	195784576	.	GTGGTGTCACCTGTGGATGCTGAGGAAAGGCTGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGGGCTAGTGACAGGAAGAGGA	*	29370.5	.	AC=1;AF=0.071;AN=14;BaseQRankSum=8.87;DP=3235;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=57;MQRankSum=1.74;QD=19.16;ReadPosRankSum=-2.837;SOR=0.677	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:2,86:284:99:1|0:195784559_TAGTGACAGGAAGAGGCGTGGTGTCACCTGTGGATGCTGAGGAAAGGCTGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTC_T:18298,8088,8061:195784559	6	0	1	0
chr3	195784652	195784652	C	0	exonic	MUC4	.	.	.	.	842	358	133	132	57	454	0.356694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	27789.8	70	chr3	195784652	.	C	*	27789.8	.	AC=3;AF=0.25;AN=12;DP=3157;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.25;MQ=50.1;QD=13.4;SOR=0.702	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:2,196:284:99:1|1:195784559_TAGTGACAGGAAGAGGCGTGGTGTCACCTGTGGATGCTGAGGAAAGGCTGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTC_T:15415,1149,0:195784559	4	1	1	1
chr3	195784654	195784654	T	0	exonic	MUC4	.	.	.	.	811	382	134	136	59	465	0.347009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	22046.3	70	chr3	195784654	.	T	*	22046.3	.	AC=3;AF=0.25;AN=12;BaseQRankSum=1.85;DP=3156;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.25;MQ=50.07;MQRankSum=-2.194;QD=10.66;ReadPosRankSum=-0.04;SOR=0.682	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:2,196:284:99:1|1:195784559_TAGTGACAGGAAGAGGCGTGGTGTCACCTGTGGATGCTGAGGAAAGGCTGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTC_T:15415,1149,0:195784559	4	1	1	1
chr3	195784655	195784655	C	0	exonic	MUC4	.	.	.	.	812	379	133	136	62	467	0.348237	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	28144.8	70	chr3	195784655	.	C	*	28144.8	.	AC=3;AF=0.25;AN=12;DP=3154;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.25;MQ=50;QD=13.51;SOR=0.702	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:2,196:284:99:1|1:195784559_TAGTGACAGGAAGAGGCGTGGTGTCACCTGTGGATGCTGAGGAAAGGCTGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTC_T:15415,1149,0:195784559	4	1	1	1
chr3	195784719	195784719	A	0	exonic	MUC4	.	.	.	.	956	119	187	211	49	658	0.719008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	37867.8	421	chr3	195784719	.	A	*	37867.8	.	AC=2;AF=0.25;AN=8;BaseQRankSum=1.81;DP=4029;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.375;MQ=56.62;MQRankSum=2.34;QD=15.17;ReadPosRankSum=1.78;SOR=0.705	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:2,191:243:99:0|1:195784559_TAGTGACAGGAAGAGGCGTGGTGTCACCTGTGGATGCTGAGGAAAGGCTGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTC_T:16560,2545,1417:195784559	2	0	2	3
chr3	195790225	195790225	T	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.A1355G:p.H452R,MUC4:NM_001322468:exon3:c.A1355G:p.H452R	.	419	1102	1	0	0	1	0.000453515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.00245299545479	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.285	0.21478	T	.	.	.	.	.	.	0.000046	0.00387	N	10.141600	1	0.08975	N	.	.	.	0.8	0.48769	T	-0.8	0.22078	N	0.087	0.14338	-1.0852	0.06371	T	0.091	0.34765	T	10	0.0731267	0.11007	T	0.002453	0.04840	T	0.044	0.11924	.	.	0.0138822411134	0.00435	0.004956897626102258	0.00467	.	.	0.219940721989	0.01306	T	.	.	.	-0.216161	0.18519	T	-0.548277	0.17491	T	0.12191642064547	0.14615	T	0.534647	0.17878	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.248	0.48313	B	.;.	.;.	0.711063	0.10799	7.483	0.37145922095818024	0.02430	0.02149	0.06322	N	AEFBI	0.064570	0.12545	N	-1.20759982118044	0.04888	0.2215762	-1.32655127425984	0.04090	0.1921992	1.45846295611923E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	1.77	-1.3	0.08777	0.061000	0.14242	-1.656000	0.04975	0.295000	0.18837	0.001000	0.13787	0.000000	0.08366	0.032000	0.13371	0.0:0.0:0.5543:0.4457	5.999	0.18738	604	0.67577	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	725.46	80	chr3	195790225	.	T	C	725.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.35;DP=662;ExcessHet=0;FS=3.751;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.95;ReadPosRankSum=1.27;SOR=1.259	GT:AD:DP:GQ:PL	0/1:30,26:56:99:736,0,867	6	0	1	0
chr4	271770	271853	TGTAGGGCTTCTCTCCAGTATGAATTCTCTTATGTTCATTCAGAACTGAGGACCTACTAAAGGCTTTGCCACATTCTTCACATG	-	exonic	ZNF732	.	nonframeshift deletion	ZNF732:NM_001137608:exon4:c.1004_1087del:p.T335_Y362del	.	409	1112	1	0	0	1	0.000449438	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.767e-06	0	0	0	0	1.595e-05	0	0	.	.	.	.	4.11e-06	4.104e-06	2.725e-06	5.508e-06	0.0002	1.48e-06	9.7e-07	8.4e-07	5.7e-07	0	0	0	0	0	0.0002	3.6e-06	1.659e-05	0	6.578e-06	6.57e-06	1.286e-05	0	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	361.23	43	chr4	271769	.	TTGTAGGGCTTCTCTCCAGTATGAATTCTCTTATGTTCATTCAGAACTGAGGACCTACTAAAGGCTTTGCCACATTCTTCACATG	T	361.23	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.988;DP=251;ExcessHet=0;FS=1.304;MLEAC=1;MLEAF=0.083;MQ=59.65;MQRankSum=-1.684;QD=7.53;ReadPosRankSum=0.468;SOR=0.425	GT:AD:DP:GQ:PL	0/1:36,12:48:99:371,0,1407	5	0	1	1
chr4	893408	893408	C	A	exonic	GAK	.	nonsynonymous SNV	GAK:NM_001318134:exon6:c.G722T:p.R241L,GAK:NM_005255:exon9:c.G959T:p.R320L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.294	0.0585614118153	.	.	1.818e-05	0	0	0	0	0	0	0.0002	1.29e-05	2	154602	rs371284475	8.359e-06	1.231e-05	4.15e-06	1.263e-05	9.607e-05	4.46e-06	3.52e-06	4.721e-05	3.475e-05	0	0	0	0	0	0	2.729e-06	1.688e-05	9.607e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.038	0.51421	D	0.988	0.62325	D	0.875	0.62107	P	0.000004	0.62929	D	0.091750	1	0.81001	D	2.25	0.63811	M	2.22	0.18248	T	-4.8	0.81514	D	0.805	0.80083	-0.9779	0.35481	T	0.118	0.41516	T	10	0.7747838	0.77370	D	0.058561	0.67362	D	0.294	0.61388	0.508	0.60386	0.411923116668	0.40804	0.7571863799070913	0.75666	0.172835756849	0.19464	0.711310744286	0.68784	T	0.426125	0.77601	T	-0.0681373	0.41623	T	-0.120316	0.61776	T	0.652406454086304	0.38565	D	0.971803	0.89778	D	0.8548011	0.87692	0.5324097	0.72981	0.8548011	0.87694	0.5324097	0.72982	-11.135	0.82435	D	.	.	0.517	0.65350	A	.;.	.;.	3.842708	0.55612	23.6	0.99787829294371466	0.87396	0.94040	0.59932	D	AEFBCI	0.746588	0.68891	D	0.510066009612272	0.67682	5.114493	0.408173848105198	0.62074	4.416796	0.999998704485077	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.16	5.16	0.70563	7.162000	0.77088	.	.	0.588000	0.31329	1.000000	0.71638	1.000000	0.68203	0.391000	0.26581	0.0:1.0:0.0:0.0	16.157	0.81486	779	0.47767	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001011	0.000000	0.000000	0.000000	0.000000	0.000000	0.003086	0.003788	0.07143	549.44	34	chr4	893408	.	C	A	549.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.462;DP=227;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.46;ReadPosRankSum=0.903;SOR=0.639	GT:AD:DP:GQ:PL	0/1:16,22:38:99:560,0,349	6	0	1	0
chr4	1383837	1383837	A	G	exonic	UVSSA	.	nonsynonymous SNV	UVSSA:NM_001317934:exon13:c.A1933G:p.S645G,UVSSA:NM_001317935:exon13:c.A1933G:p.S645G,UVSSA:NM_020894:exon13:c.A1933G:p.S645G	UV-sensitive syndrome 3, Autosomal recessive	0	1503	18	1	0	20	0.00660939	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.0037136444809	0.0002	0.000599042	0.0005	0	0.0002	0.0003	0	0.0003	0	0.0026	0.0004528	70	154602	rs201318732	0.0003	0.0003	0.0002	0.0004	0.0026	0.0003	0.0003	0.0022	0.0021	2.987e-05	0.0002	0.0015	7.557e-05	1.894e-05	0.0026	0.0001	0.0006	0.0025	0.0003	0.0003	0.0002	0.0003	0.0015	0.0002	0.0002	0.0007	0.0005	0	0	0.0001	0.0014	0	0	0	0.0004	0.0009	0.0015	0.573	0.10020	T	0.286	0.23845	T	0.001	0.07471	B	0.004	0.10090	B	0.710106	0.10021	N	0.896444	1	0.08975	N	0.805	0.20218	L	1.56	0.42502	T	-0.5	0.24460	N	0.099	0.08088	-1.0154	0.25207	T	0.058	0.24204	T	10	0.005978614	0.00134	T	0.003714	0.08589	T	0.010	0.01040	.	.	0.0297737177859	0.01360	0.1538222070765325	0.15304	0.0152523105094	0.01452	0.272158384323	0.06424	T	0.036624	0.24175	T	-0.67779	0.00049	T	-0.751301	0.03435	T	0.00574786982365525	0.00063	T	0.374863	0.08927	T	0.022671392	0.00946	0.023782352	0.00391	0.022422122	0.00904	0.02780293	0.00961	-2.727	0.07532	T	0.09284901968223057	0.06045	0.055	0.00412	B	.;.;.;.;.	.;.;.;.;.	-1.197671	0.00533	0.012	0.39955257370670688	0.02790	0.02627	0.07216	N	AEFBI	0.037822	0.05260	N	-1.5382268697818	0.01604	0.07012771	-1.60868813775984	0.01603	0.07272763	5.41867196343739E-4	0.07273	0.660377	0.49826	0	0.694456	0.67091	0	0.723109	0.80598	0	0.567892	0.33627	0	.	.	4.75	-4.12	0.03650	-0.275000	0.08557	-1.970000	0.04414	-1.514000	0.01012	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3667:0.2436:0.2718:0.1179	1.532	0.02384	836	0.38045	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004036	0.000000	0.000000	0.000000	0.000000	0.000000	0.006173	0.022727	0.07143	394.83	35	chr4	1383837	.	A	G	394.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.17;DP=230;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.18;ReadPosRankSum=0.306;SOR=0.793	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:24,19:43:99:0|1:1383827_A_G:405,0,498:1383827	6	0	1	0
chr4	1703672	1703672	G	A	exonic	SLBP	.	nonsynonymous SNV	SLBP:NM_001306075:exon2:c.C88T:p.R30C,SLBP:NM_006527:exon3:c.C205T:p.R69C	.	424	1096	2	0	0	2	0.000911577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.0402200577683	0.0024	0.00139776	0.0020	0.0004	0.0007	0	0.0008	0.0034	0.0011	0	0.0022057	341	154602	rs41286667	0.0028	0.0028	0.0028	0.0028	0.0034	0.0027	0.0027	0.0033	0.0033	0.0004	0.0013	0.0003	0	0.0015	0.0002	0.0034	0.0022	2.319e-05	0.0020	0.0020	0.0023	0.0017	0.0035	0.0018	0.0018	0.0031	0.0030	0.0006	0	0.0018	0.0003	0	0.0013	0	0.0035	0.0024	0	0.014	0.54683	D	0.185	0.29639	T	0.998	0.77913	D	0.795	0.58136	P	0.002390	0.36650	N	0.220091	0.993565	0.58761	D	2.075	0.57047	M	.	.	.	-1.39	0.34397	N	0.334	0.37509	-0.7475	0.58066	T	0.193	0.54637	T	9	0.0063792765	0.00144	T	0.04022	0.59252	D	0.094	0.27141	.	.	0.198222871337	0.19423	0.10945083235299634	0.10874	0.711545731921	0.61734	0.462738573551	0.33687	T	0.020788	0.16305	T	-0.398308	0.02375	T	-0.343552	0.39941	T	0.0251153485375622	0.01287	T	0.873013	0.60710	D	0.08645035	0.20096	0.052135106	0.08529	0.08645035	0.20095	0.052135106	0.08528	-4.903	0.41914	T	.	.	0.131	0.28174	B	.;.;.	.;.;.	4.382738	0.67577	25.1	0.99695786320332735	0.80248	0.89876	0.50631	D	AEFBCI	0.248426	0.36883	N	0.101449210495208	0.46529	2.891987	0.0614322095028347	0.42628	2.581684	0.999942527890766	0.47345	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.01	3.23	0.36150	2.398000	0.44140	4.249000	0.42748	-0.159000	0.11634	0.140000	0.23505	1.000000	0.68203	0.887000	0.42601	0.0:0.1394:0.5718:0.2888	9.587	0.38686	799	0.44747	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	839.44	33	chr4	1703672	.	G	A	839.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.421;DP=238;ExcessHet=0;FS=1.026;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.54;ReadPosRankSum=-1.206;SOR=0.935	GT:AD:DP:GQ:PL	0/1:26,36:62:99:850,0,601	6	0	1	0
chr4	2941692	2941692	G	A	exonic	NOP14	.	nonsynonymous SNV	NOP14:NM_001291978:exon15:c.C2089T:p.R697C,NOP14:NM_001291979:exon15:c.C2089T:p.R697C,NOP14:NM_003703:exon15:c.C2089T:p.R697C	.	404	1092	26	0	0	26	0.0117647	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.213	.	0.0032	0.00878594	0.0088	0.0005	0.0044	0.0019	0.0106	0.0077	0.0092	0.0248	0.007736	1196	154602	rs61740573	0.0062	0.0062	0.0057	0.0067	0.0298	0.0061	0.0060	0.0261	0.0247	0.0018	0.0044	0.0296	0.0008	0.0102	0.0298	0.0045	0.0080	0.0204	0.0055	0.0055	0.0048	0.0061	0.0236	0.0052	0.0050	0.0201	0.0188	0.0010	0	0.0046	0.0328	0.0015	0.0100	0.0170	0.0051	0.0118	0.0236	0.015	0.58626	D	0.003	0.79402	D	1.0	0.90584	D	0.91	0.66185	D	0.000073	0.52346	D	0.124363	0.52763	0.31517	N	3.055	0.86842	M	1.46	0.32238	T	-4.09	0.75375	D	0.475	0.51315	-0.5549	0.66599	T	0.138	0.45526	T	10	0.0066779554	0.00151	T	.	.	.	0.213	0.50496	.	.	0.527809512145	0.52428	0.4969263051077896	0.49613	0.4632225215	0.45833	0.259536594152	0.04836	T	0.070444	0.33961	T	-0.400888	0.02284	T	-0.331705	0.41280	T	0.0351601588212269	0.02836	T	0.926207	0.72857	D	0.25870398	0.48920	0.1932095	0.42877	0.25870398	0.48920	0.1932095	0.42876	-7.67	0.58799	D	.	.	0.087	0.23148	B	.;.;.;.	.;.;.;.	4.515894	0.70766	25.6	0.99881421728566111	0.95733	0.70493	0.34613	D	AEFDBHCI	0.141967	0.26429	N	0.29330149020774	0.55808	3.744946	0.141584442563453	0.46698	2.911595	0.999999848330045	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	5.67	3.81	0.43020	1.589000	0.36253	6.314000	0.55434	0.676000	0.76740	0.982000	0.35529	0.998000	0.33993	0.016000	0.10718	0.0:0.0:0.6387:0.3613	13.313	0.59830	624	0.65661	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.027273	0.025773	0.033967	0.035088	0.100000	0.051724	0.018405	0.003788	0.07143	231.83	40	chr4	2941692	.	G	A	231.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.207;DP=207;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.27;ReadPosRankSum=-1.426;SOR=0.601	GT:AD:DP:GQ:PL	0/1:14,11:25:99:242,0,330	6	0	1	0
chr4	3074930	3074930	-	CAGCAGCAA	exonic	HTT	.	nonframeshift insertion	HTT:NM_002111:exon1:c.105_106insCAGCAGCAA:p.Q38_P39insQQQ	Huntington disease, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs774733492	4.418e-05	4.379e-05	4.539e-05	4.295e-05	0.0006	3.431e-05	3.106e-05	0.0001	0.0001	0.0003	0	4.975e-05	0	0	0.0006	4.246e-05	2.022e-05	1.519e-05	0.0002	0.0002	0.0002	0.0002	0.0006	0.0001	0.0001	0.0004	0.0003	0.0006	0	0	0	0	0	0	7.133e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	214.39	26	chr4	3074930	.	G	GCAGCAGCAA	214.39	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.611;DP=227;ExcessHet=0;FS=2.616;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.87;ReadPosRankSum=0.49;SOR=0.169	GT:AD:DP:GQ:PL	0/1:8,4:12:99:224,0,269	5	0	1	1
chr4	6301953	6301953	A	G	exonic	WFS1	.	nonsynonymous SNV	WFS1:NM_001145853:exon8:c.A2158G:p.I720V,WFS1:NM_006005:exon8:c.A2158G:p.I720V	Deafness, autosomal dominant 6/14/38, Autosomal dominant;Wolfram syndrome, Autosomal recessive;Wolfram-like syndrome, autosomal dominant, Autosomal dominant	0	1511	11	0	0	11	0.00362677	.	.	.	141622	Monogenic_diabetes|WFS1-Related_Spectrum_Disorders|not_provided|not_specified|Wolfram_syndrome_1|Cataract_41|Autosomal_dominant_nonsyndromic_hearing_loss_6|Type_2_diabetes_mellitus|Wolfram-like_syndrome|Diabetes_mellitus	MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625|MedGen:CN239410|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0009101,MedGen:C4551693,OMIM:222300,Orphanet:3463|MONDO:MONDO:0007287,MedGen:C3805412,OMIM:116400,Orphanet:91492,Orphanet:98991,Orphanet:98992,Orphanet:98995|MONDO:MONDO:0010963,MedGen:C1833021,OMIM:600965,Orphanet:90635|Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853|MONDO:MONDO:0013673,MedGen:C3280358,OMIM:614296,Orphanet:411590|Human_Phenotype_Ontology:HP:0000819,Human_Phenotype_Ontology:HP:0004908,Human_Phenotype_Ontology:HP:0008217,Human_Phenotype_Ontology:HP:0008234,Human_Phenotype_Ontology:HP:0008260,MONDO:MONDO:0005015,MedGen:C0011849	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.433	.	0.0003	0.014976	0.0074	0.0001	0	0.0599	0.0186	0.0027	0.0219	0.0029	0.0065394	1011	154602	rs1805070	0.0036	0.0036	0.0036	0.0036	0.0698	0.0035	0.0035	0.0676	0.0667	8.962e-05	0.0001	0.0011	0.0698	0.0224	0.0010	0.0006	0.0060	0.0027	0.0045	0.0045	0.0032	0.0059	0.0642	0.0042	0.0041	0.0585	0.0563	9.619e-05	0	0.0003	0.0006	0.0642	0.0203	0	0.0013	0.0038	0.0052	0.201	0.20306	T	0.224	0.25591	T	0.004	0.12183	B	0.014	0.16862	B	0.000003	0.62929	N	0.100429	0.740196	0.33814	D	1.39	0.34934	L	-4.15	0.96798	D	-0.57	0.17210	N	0.186	0.20262	-0.2873	0.75340	T	0.280	0.65149	T	10	0.0034231544	0.00060	T	.	.	.	0.433	0.73879	.	.	0.92911295316	0.92838	0.5829553482745569	0.58224	.	.	0.468299537897	0.34447	T	0.145148	0.48213	T	-0.211243	0.19203	T	-0.0119817	0.69556	D	0.0144258577593717	0.00291	T	0.813919	0.46746	T	0.035162937	0.04086	0.0638598	0.12712	0.04181572	0.06228	0.05910474	0.11036	-3.417	0.15286	T	0.15401895742049693	0.18365	0.068	0.03026	B	.;.	.;.	1.359349	0.17679	13.31	0.96611758788161461	0.30445	0.93496	0.58375	D	AEFDBI	0.494324	0.53017	N	-0.349017230391587	0.27307	1.497231	-0.236204943316298	0.30249	1.701557	0.0881872003004449	0.16054	0.706548	0.73137	0	0.633656	0.55848	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.49	0.341	0.15229	3.912000	0.56099	0.906000	0.22588	0.653000	0.53440	1.000000	0.71638	0.453000	0.24963	0.946000	0.48989	0.7098:0.0:0.2902:0.0	8.843	0.34310	970	0.06235	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002518	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.011364	0.08333	1144.27	59	chr4	6301953	.	A	G	1144.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.974;DP=544;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.46;ReadPosRankSum=-1.148;SOR=0.784	GT:AD:DP:GQ:PL	0/1:37,48:85:99:1154,0,1036	5	0	1	1
chr4	6862306	6862306	T	C	exonic	KIAA0232	.	nonsynonymous SNV	KIAA0232:NM_001100590:exon6:c.T1924C:p.S642P,KIAA0232:NM_014743:exon7:c.T1924C:p.S642P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.00517274981781	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1049661710	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.571e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.005	0.63226	D	0.024	0.56640	D	0.01	0.15535	B	0.01	0.14941	B	0.002610	0.36243	N	0.335799	0.997385	0.43845	D	1.845	0.48678	L	.	.	.	-1.21	0.30762	N	0.255	0.28849	-0.8699	0.50537	T	0.178	0.52350	T	9	0.10915744	0.20352	T	0.005173	0.13156	T	0.057	0.16321	0.471	0.54537	0.0675242888579	0.06100	0.46100661359438516	0.46018	0.236252140533	0.26164	0.507156848907	0.39825	T	0.032907	0.22691	T	-0.0647136	0.42169	T	-0.330733	0.41388	T	0.740678250789642	0.42773	D	0.785921	0.42389	T	0.33447877	0.55835	0.22762217	0.47778	0.33447877	0.55835	0.22762217	0.47777	-4.395	0.29489	T	.	.	0.096	0.18950	B	.;.	.;.	2.849310	0.37614	20.5	0.99790826753695638	0.87661	0.97746	0.76833	D	AEFBI	0.619401	0.60485	D	-0.157216252661344	0.34928	1.999906	-0.0453646344165534	0.37692	2.210343	0.99990703318278	0.45458	0.651	0.46895	0	0.653731	0.59785	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	5.73	1.7	0.23359	2.683000	0.46609	0.685000	0.20714	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0737:0.2877:0.6386	6.857	0.23230	682	0.59757	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	1395.26	65	chr4	6862306	.	T	C	1395.26	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-2.044;DP=565;ExcessHet=11.5949;FS=236.492;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.6;ReadPosRankSum=0.983;SOR=10.163	GT:AD:DP:GQ:PL	0/1:47,22:69:99:176,0,891	0	0	6	1
chr4	15004115	15004120	GCGGCG	-	exonic	CPEB2	.	nonframeshift deletion	CPEB2:NM_001177381:exon1:c.1442_1447del:p.G486_G682delinsFGGPFSATAVPPPPPPAMNIPQQQPPPPAAPQQPQSRRSPVSPQLQQQHQAAAAAFLQQRNSYNHHQPLLKQSPWSNHQSSGWGTGSMSWGAMHGRDHRRTGNMGIPGTMNQISPLKKPFSGNVIAPPKFTRSTPSLTPKSWIEDNVFRTDNNSNTLLPLQVRMDRSRMYDSLNMHSLENSLIDIMRAEHDPLKGRLSYPHPGTDNLLMLNARSYGRRRGRSSLFPIDDGLLDDGHSDQVGVLNSPTCYSAHQNGERIERFSRKVFVGGLPPDIDEDEITASFRRFGPLVVDWPHKAESKSYFPPKGYAFLLFQEESSVQALIDACIEEDGKLYLCVSSPTIKDKPVQIRPWNLSDSDFVMDGSQPLDPRKTIFVGGVPRPLRAVELAMIMDRLYGGVCYAGIDTDPELKYPKGAGRVAFSNQQSYIAAISARFVQLQHGDIDKRVEVKPYVLDDQMCDECQGARCGGKFAPFFCANVTCLQYYCEFCWANIHSRAGREFHKPLVKEGADRPRQIHFRWN*,CPEB2:NM_001177382:exon1:c.1442_1447del:p.G486_G487del,CPEB2:NM_001177383:exon1:c.1442_1447del:p.G486_G679delinsFGGPFSATAVPPPPPPAMNIPQQQPPPPAAPQQPQSRRSPVSPQLQQQHQAAAAAFLQQRNSYNHHQPLLKQSPWSNHQSSGWGTGSMSWGAMHGRDHRRTGNMGIPGTMNQISPLKKPFSGNVIAPPKFTRSTPSLTPKSWIEDNVFRTDNNSNTLLPLQDRSRMYDSLNMHSLENSLIDIMRAEHDPLKGRLSYPHPGTDNLLMLNARSYGRRRGRSSLFPIDDGLLDDGHSDQVGVLNSPTCYSAHQNGERIERFSRKVFVGGLPPDIDEDEITASFRRFGPLVVDWPHKAESKSYFPPKGYAFLLFQEESSVQALIDACIEEDGKLYLCVSSPTIKDKPVQIRPWNLSDSDFVMDGSQPLDPRKTIFVGGVPRPLRAVELAMIMDRLYGGVCYAGIDTDPELKYPKGAGRVAFSNQQSYIAAISARFVQLQHGDIDKRVEVKPYVLDDQMCDECQGARCGGKFAPFFCANVTCLQYYCEFCWANIHSRAGREFHKPLVKEGADRPRQIHFRWN*,CPEB2:NM_001177384:exon1:c.1442_1447del:p.G486_G682delinsFGGPFSATAVPPPPPPAMNIPQQQPPPPAAPQQPQSRRSPVSPQLQQQHQAAAAAFLQQRNSYNHHQPLLKQSPWSNHQSSGWGTGSMSWGAMHGRDHRRTGNMGIPGTMNQISPLKKPFSGNVIAPPKFTRSTPSLTPKSWIEDNVFRTDNNSNTLLPLQVRMDRSRMYDSLNMHSLENSLIDIMRAEHDPLKGRLSYPHPGTDNLLMLNGRSSLFPIDDGLLDDGHSDQVGVLNSPTCYSAHQNGERIERFSRKVFVGGLPPDIDEDEITASFRRFGPLVVDWPHKAESKSYFPPKGYAFLLFQEESSVQALIDACIEEDGKLYLCVSSPTIKDKPVQIRPWNLSDSDFVMDGSQPLDPRKTIFVGGVPRPLRAVELAMIMDRLYGGVCYAGIDTDPELKYPKGAGRVAFSNQQSYIAAISARFVQLQHGDIDKRVEVKPYVLDDQMCDECQGARCGGKFAPFFCANVTCLQYYCEFCWANIHSRAGREFHKPLVKEGADRPRQIHFRWN*,CPEB2:NM_182485:exon1:c.1442_1447del:p.G486_G709delinsFGGPFSATAVPPPPPPAMNIPQQQPPPPAAPQQPQSRRSPVSPQLQQQHQAAAAAFLQQRNSYNHHQPLLKQSPWSNHQSSGWGTGSMSWGAMHGRDHRRTGNMGIPGTMNQISPLKKPFSGNVIAPPKFTRSTPSLTPKSWIEDNVFRTDNNSNTLLPLQVRSSLQLPAWGSDSLQDSWCTAAGTSRIDQDRSRMYDSLNMHSLENSLIDIMRAEHDPLKGRLSYPHPGTDNLLMLNGRSSLFPIDDGLLDDGHSDQVGVLNSPTCYSAHQNGERIERFSRKVFVGGLPPDIDEDEITASFRRFGPLVVDWPHKAESKSYFPPKGYAFLLFQEESSVQALIDACIEEDGKLYLCVSSPTIKDKPVQIRPWNLSDSDFVMDGSQPLDPRKTIFVGGVPRPLRAVELAMIMDRLYGGVCYAGIDTDPELKYPKGAGRVAFSNQQSYIAAISARFVQLQHGDIDKRVEVKPYVLDDQMCDECQGARCGGKFAPFFCANVTCLQYYCEFCWANIHSRAGREFHKPLVKEGADRPRQIHFRWN*,CPEB2:NM_182646:exon1:c.1442_1447del:p.G486_G679delinsFGGPFSATAVPPPPPPAMNIPQQQPPPPAAPQQPQSRRSPVSPQLQQQHQAAAAAFLQQRNSYNHHQPLLKQSPWSNHQSSGWGTGSMSWGAMHGRDHRRTGNMGIPGTMNQISPLKKPFSGNVIAPPKFTRSTPSLTPKSWIEDNVFRTDNNSNTLLPLQDRSRMYDSLNMHSLENSLIDIMRAEHDPLKGRLSYPHPGTDNLLMLNGRSSLFPIDDGLLDDGHSDQVGVLNSPTCYSAHQNGERIERFSRKVFVGGLPPDIDEDEITASFRRFGPLVVDWPHKAESKSYFPPKGYAFLLFQEESSVQALIDACIEEDGKLYLCVSSPTIKDKPVQIRPWNLSDSDFVMDGSQPLDPRKTIFVGGVPRPLRAVELAMIMDRLYGGVCYAGIDTDPELKYPKGAGRVAFSNQQSYIAAISARFVQLQHGDIDKRVEVKPYVLDDQMCDECQGARCGGKFAPFFCANVTCLQYYCEFCWANIHSRAGREFHKPLVKEGADRPRQIHFRWN*	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0	0.0003	0.0059	0	8.591e-05	0	9.33e-05	0.0002846	44	154602	rs778578129	0.0003	0.0004	0.0003	0.0002	0.0058	0.0002	0.0002	0.0052	0.0049	7.381e-05	0.0002	0	0.0058	0	0.0002	8.573e-05	0.0012	6.468e-05	0.0003	0.0003	0.0004	0.0003	0.0055	0.0002	0.0002	0.0039	0.0033	0.0001	0	0.0003	0	0.0055	0	0	0.0002	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	224.59	33	chr4	15004114	.	AGCGGCG	A	224.59	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.389;DP=222;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=18.72;ReadPosRankSum=-0.931;SOR=0.693	GT:AD:DP:GQ:PL	0/1:6,6:12:99:235,0,233	6	0	1	0
chr4	15984352	15984352	T	C	exonic	PROM1	.	nonsynonymous SNV	PROM1:NM_001145851:exon21:c.A2257G:p.S753G,PROM1:NM_001145847:exon22:c.A2257G:p.S753G,PROM1:NM_001145848:exon22:c.A2257G:p.S753G,PROM1:NM_001145849:exon22:c.A2284G:p.S762G,PROM1:NM_001145852:exon22:c.A2257G:p.S753G,PROM1:NM_001371406:exon22:c.A2257G:p.S753G,PROM1:NM_001371407:exon22:c.A2257G:p.S753G,PROM1:NM_001371408:exon22:c.A2257G:p.S753G,PROM1:NM_001145850:exon23:c.A2284G:p.S762G,PROM1:NM_006017:exon23:c.A2284G:p.S762G	Cone-rod dystrophy 12;Macular dystrophy, retinal, 2, Autosomal dominant;Retinitis pigmentosa 41, Autosomal recessive;Stargardt disease 4	.	.	.	.	.	.	.	.	.	.	294071	Retinal_macular_dystrophy_type_2|Cone-rod_dystrophy_12|Stargardt_disease_4|not_provided|Retinitis_pigmentosa	MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051,Orphanet:319640|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657,Orphanet:1872|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786,Orphanet:827|MedGen:C3661900|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.033	0.0118740450209	0.0005	0.000599042	0.0010	0	0.0007	0	0.0005	0.0008	0.0033	0.0030	0.0006404	99	154602	rs202029748	0.0007	0.0007	0.0006	0.0008	0.0020	0.0007	0.0007	0.0018	0.0017	6.08e-05	0.0004	0.0007	0	0.0006	0.0002	0.0007	0.0006	0.0020	0.0006	0.0006	0.0005	0.0007	0.0012	0.0005	0.0005	0.0007	0.0006	7.216e-05	0	0.0003	0.0012	0	0.0013	0	0.0009	0.0005	0.0012	0.026	0.46910	D	0.015	0.62352	D	0.389	0.34565	B	0.158	0.34617	B	0.009873	0.30165	N	0.391287	0.999968	0.18878	N	0.805	0.20218	L	0.89	0.45636	T	-2.38	0.52938	N	0.185	0.20129	-1.0695	0.09523	T	0.053	0.22307	T	9	0.011222929	0.00246	T	0.011874	0.29919	T	0.078	0.22779	.	.	0.504113619024	0.50048	0.23915140627187442	0.23829	0.0182130001652	0.01780	0.280690103769	0.07588	T	0.461159	0.79804	T	-0.515718	0.00466	T	-0.520834	0.20210	T	0.0232674592765771	0.01055	T	0.644036	0.25562	T	0.051832777	0.09579	0.042478435	0.05069	0.06086441	0.12538	0.062396742	0.12201	-6.821	0.53085	T	0.4098492939945429	0.50034	0.097	0.16187	B	.;.;.;.;.;.	.;.;.;.;.;.	1.945985	0.24719	16.50	0.87697580079166326	0.17415	0.65197	0.32657	D	AEFBI	0.128615	0.24646	N	-0.942390701573764	0.09864	0.4687736	-0.885978219950933	0.12425	0.6390868	0.815294255511409	0.24428	0.706548	0.73137	0	0.59043	0.45803	0	0.724815	0.87919	0	0.542086	0.14980	0	.	.	5.91	1.98	0.25351	0.592000	0.23685	0.257000	0.16498	-0.827000	0.02907	0.991000	0.37257	0.824000	0.27153	0.043000	0.14563	0.1246:0.1235:0.2592:0.4928	2.082	0.03415	900	0.24599	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	455.63	40	chr4	15984352	.	T	C	455.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.336;DP=214;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.24;ReadPosRankSum=-1.091;SOR=0.883	GT:AD:DP:GQ:PL	0/1:12,20:32:99:466,0,403	6	0	1	0
chr4	17709587	17709587	G	A	exonic	FAM184B	.	nonsynonymous SNV	FAM184B:NM_015688:exon2:c.C199T:p.R67W	.	397	1103	20	2	0	24	0.0107623	.	.	.	2822455	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.373	0.179227908459	.	0.00259585	0.0052	0.0011	0.0036	0	0	0.0072	0	0.0051	0.0009573	148	154602	rs61746445	0.0027	0.0026	0.0026	0.0028	0.0117	0.0026	0.0026	0.0094	0.0085	0.0004	0.0010	0.0080	2.799e-05	0.0009	0.0117	0.0027	0.0039	0.0038	0.0020	0.0020	0.0020	0.0020	0.0041	0.0018	0.0018	0.0028	0.0027	0.0004	0	0.0016	0.0063	0	0.0006	0	0.0032	0.0014	0.0041	0.001	0.78490	D	0.004	0.74150	D	1.0	0.90584	D	0.984	0.76113	D	0.000360	0.45440	D	0.163809	1	0.08975	N	2.22	0.62911	M	-1.15	0.77964	T	-5.0	0.82341	D	0.265	0.30004	-0.4580	0.70135	T	0.482	0.80215	T	10	0.006183207	0.00139	T	0.179228	0.85409	D	0.373	0.69188	.	.	0.361958692863	0.35806	0.41334810671549177	0.41250	.	.	0.477724611759	0.35743	T	0.340162	0.70922	T	-0.235981	0.15866	T	-0.112585	0.62404	T	0.0447716790519422	0.04561	T	0.872813	0.58002	D	0.339301	0.56224	0.37361875	0.62545	0.339301	0.56224	0.37361875	0.62545	-8.711	0.65818	D	.	.	0.126	0.26794	B	.	.	3.593035	0.50711	23.0	0.99873558175972643	0.95076	0.47163	0.27921	N	AEFDBCI	0.330195	0.43031	N	0.0438600788971241	0.43861	2.670819	-0.11204925906214	0.34903	2.013063	0.999834923307394	0.43792	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.32	1.08	0.19456	1.893000	0.39391	1.305000	0.25500	0.676000	0.76740	0.511000	0.27041	0.002000	0.18203	0.102000	0.18378	0.0826:0.0:0.2722:0.6452	8.699	0.33474	790	0.46189	Protein FAM184A/B, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.009402	0.005618	0.012739	0.008000	0.000000	0.018519	0.009174	0.000000	0.07143	620.44	34	chr4	17709587	.	G	A	620.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.482;DP=235;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.77;ReadPosRankSum=-0.517;SOR=0.644	GT:AD:DP:GQ:PL	0/1:13,29:42:99:631,0,288	6	0	1	0
chr4	47896558	47896558	G	A	exonic	NFXL1	.	nonsynonymous SNV	NFXL1:NM_001278623:exon10:c.C1294T:p.R432C,NFXL1:NM_001278624:exon10:c.C1294T:p.R432C,NFXL1:NM_152995:exon10:c.C1294T:p.R432C	.	430	1084	8	0	0	8	0.00367647	.	.	.	3199169	NFXL1-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.368	0.0972091449998	0.0035	0.000199681	0.0025	0.0006	0.0011	0	0.0009	0.0042	0	0.0002	0.0024126	373	154602	rs35139099	0.0034	0.0034	0.0035	0.0033	0.0042	0.0033	0.0033	0.0041	0.0040	0.0004	0.0017	0.0004	0	0.0008	0.0017	0.0042	0.0028	0.0004	0.0023	0.0023	0.0026	0.0020	0.0040	0.0021	0.0020	0.0036	0.0035	0.0005	0	0.0021	0.0006	0	0.0013	0	0.0040	0.0024	0.0006	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.991	0.79672	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.185	0.88900	M	0.14	0.60854	T	-6.76	0.93509	D	0.865	0.86191	-0.2152	0.77279	T	0.335	0.70207	T	10	0.07701364	0.12103	T	0.097209	0.76734	D	0.368	0.68757	.	.	0.962926417621	0.96253	0.5571280347882771	0.55639	1.20430854673	0.80639	0.770583868027	0.77513	T	0.102055	0.40942	T	-0.113301	0.34225	T	0.0643299	0.74532	D	0.0961802798851535	0.11931	T	0.976302	0.91743	D	0.7472992	0.80711	0.6190657	0.77815	0.7472992	0.80713	0.6190657	0.77816	-11.47	0.82173	D	.	.	0.688	0.77353	P	.;.;.	.;.;.	5.864635	0.93869	33	0.99933035821039484	0.99488	0.93910	0.59546	D	AEFBI	0.463620	0.51246	N	0.774008674939467	0.84455	8.293078	0.692239276961129	0.81789	7.60954	0.0456698043794123	0.14661	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.07	4.22	0.49153	4.196000	0.58203	9.995000	0.83008	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.077:0.0:0.7776:0.1455	8.875	0.34495	373	0.84140	Zinc finger, NF-X1-type|Zinc finger, NF-X1-type;Zinc finger, NF-X1-type|Zinc finger, NF-X1-type;Zinc finger, NF-X1-type|Zinc finger, NF-X1-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001511	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.000000	0.07143	313.45	33	chr4	47896558	.	G	A	313.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.571;DP=197;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.63;ReadPosRankSum=0.404;SOR=0.511	GT:AD:DP:GQ:PL	0/1:10,13:23:99:324,0,210	6	0	1	0
chr4	52744475	52744475	G	A	exonic	ERVMER34-1	.	nonsynonymous SNV	ERVMER34-1:NM_001242690:exon3:c.C1046T:p.P349L,ERVMER34-1:NM_024534:exon4:c.C1046T:p.P349L	.	436	1068	18	0	0	18	0.00835655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.00279553	0.0073	0	0	0	0	0.0016	0	0.0154	0.0010414	161	154602	rs61731316	0.0024	0.0021	0.0015	0.0031	0.0145	0.0023	0.0022	0.0137	0.0134	0.0009	0.0006	0.0003	0.0003	2.88e-05	0.0093	0.0008	0.0015	0.0145	0.0012	0.0012	0.0010	0.0014	0.0141	0.0010	0.0010	0.0114	0.0104	0.0007	0	0.0013	0.0006	0.0002	0	0.0136	0.0007	0.0019	0.0141	.	.	.	.	.	.	1.0	0.90584	D	0.847	0.60522	P	.	.	.	.	1	0.08975	N	0.55	0.14455	N	.	.	.	.	.	.	0.165	0.17416	.	.	.	.	.	.	.	0.0043275952	0.00087	T	.	.	.	.	.	.	.	0.226586394389	0.22295	0.6840778170310404	0.68346	.	.	0.371060222387	0.20984	T	0.044	0.26679	T	-0.477372	0.00766	T	-0.446164	0.28122	T	.	.	.	0.452755	0.12846	T	0.06836084	0.14886	0.12267277	0.29588	0.06836084	0.14886	0.12267277	0.29588	-2.808	0.08257	T	.	.	0.173	0.37988	B	.;.	.;.	1.605479	0.20521	14.79	0.97291330544509647	0.33233	0.02847	0.07602	N	AEFBI	0.045237	0.07376	N	.	.	.	.	.	.	3.61416429861089E-4	0.06707	0.706548	0.73137	0	0.547309	0.14657	0	0.724815	0.87919	0	0.530356	0.10902	0	.	.	1.69	1.69	0.23290	1.663000	0.37045	0.246000	0.16368	0.509000	0.23192	0.024000	0.20007	0.000000	0.08366	0.018000	0.11154	0.0:0.0:1.0:0.0	6.845	0.23167	333	0.86326	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007937	0.000000	0.000000	0.000000	0.000000	0.000000	0.007143	0.026316	0.07143	996.46	34	chr4	52744475	.	G	A	996.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.67;DP=293;ExcessHet=0;FS=0.855;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.46;ReadPosRankSum=2.72;SOR=0.907	GT:AD:DP:GQ:PL	0/1:40,40:80:99:1007,0,907	6	0	1	0
chr4	56314386	56314386	T	C	exonic	CRACD	.	nonsynonymous SNV	CRACD:NM_020722:exon8:c.T884C:p.L295P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.00537961878377	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.01e-07	2.898e-06	0	1.624e-06	1.043e-06	0	0	.	.	0	0	0	0	0	0	1.043e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.38185	T	0.261	0.23029	T	0.002	0.09854	B	0.008	0.13708	B	.	.	.	.	1	0.08975	N	1.15	0.29295	L	2.52	0.14160	T	-0.36	0.13035	N	0.06	0.03841	-0.9592	0.39330	T	0.020	0.08313	T	9	0.067932814	0.09535	T	0.00538	0.13801	T	0.004	0.00165	0.194	0.10571	0.0482279557977	0.04254	0.040377568163659824	0.03983	0.442455837758	0.44211	0.244721382856	0.03232	T	0.001679	0.11972	T	-0.382071	0.03023	T	-0.786595	0.02260	T	0.0541680688271541	0.06218	T	0.260274	0.04709	T	0.087290384	0.20320	0.11823147	0.28541	0.087290384	0.20320	0.11823147	0.28541	-4.077	0.24950	T	.	.	0.056	0.01645	B	.;.;.;.;.	.;.;.;.;.	0.335975	0.07097	3.671	0.46168651936796151	0.03678	0.22403	0.21734	N	AEFDBCI	0.442964	0.50047	N	-1.38949235418558	0.02736	0.1212332	-1.45432072550453	0.02731	0.126155	0.999989157447609	0.51787	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.09	-4.88	0.02884	-1.143000	0.03311	-1.178000	0.06105	-0.197000	0.09056	0.000000	0.06391	0.000000	0.08366	0.038000	0.14061	0.0:0.2084:0.4698:0.3218	7.993	0.29415	283	0.88803	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	116.63	12	chr4	56314386	.	T	C	116.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.262;DP=134;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.96;ReadPosRankSum=-0.819;SOR=0.368	GT:AD:DP:GQ:PL	0/1:4,5:9:99:127,0,102	6	0	1	0
chr4	68945392	68945392	A	C	exonic	UGT2A3	.	nonsynonymous SNV	UGT2A3:NM_024743:exon2:c.T778G:p.W260G	.	1	1406	110	5	0	120	0.0409277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.429	.	0.0028	0.00698882	0.0073	0.0005	0.0013	0	0	0.0036	0.0145	0.0372	0.00641	991	154602	rs62641705	0.0041	0.0041	0.0028	0.0053	0.0384	0.0040	0.0039	0.0373	0.0369	0.0003	0.0010	0.0215	7.576e-05	5.629e-05	0.0172	0.0014	0.0057	0.0384	0.0030	0.0030	0.0030	0.0030	0.0359	0.0027	0.0027	0.0315	0.0298	0.0002	0	0.0015	0.0239	0.0002	0.0003	0.0102	0.0022	0.0033	0.0359	0.0	0.91255	D	0.0	0.92824	D	0.998	0.73220	D	0.977	0.73820	D	0.000000	0.84330	D	0.000000	0.986033	0.81001	D	3.65	0.94181	H	0.11	0.61208	T	-12.01	0.99630	D	0.741	0.74098	-0.0049	0.82155	T	0.447	0.78252	T	10	0.012360334	0.00266	T	.	.	.	0.429	0.73590	.	.	0.758552508207	0.75635	0.49207756518636214	0.49128	0.0192299428785	0.01881	0.445290029049	0.31300	T	0.210524	0.57104	T	-0.218644	0.18177	T	-0.0596829	0.66354	T	0.126290748303984	0.15035	T	.	.	.	0.91043717	0.92336	0.72808266	0.83935	0.91043717	0.92337	0.72808266	0.83936	-10.86	0.78884	D	.	.	0.635	0.70300	P	.	.	3.289622	0.45108	22.1	0.97635165120610046	0.35046	0.95821	0.66297	D	AEFBI	0.805579	0.73012	D	0.596173627938472	0.72934	5.884708	0.424873680903011	0.63117	4.539405	0.998945740685995	0.38034	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.23	3.23	0.36150	5.361000	0.65845	.	.	0.572000	0.28966	1.000000	0.71638	1.000000	0.68203	0.008000	0.08271	1.0:0.0:0.0:0.0	9.770	0.39750	644	0.63734	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.014161	0.000000	0.006793	0.000000	0.050000	0.008621	0.024390	0.026515	0.1429	1818.34	33	chr4	68945392	.	A	C	1818.34	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.677;DP=296;ExcessHet=0.3476;FS=0.593;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=11.66;ReadPosRankSum=1.91;SOR=0.775	GT:AD:DP:GQ:PL	0/1:18,27:45:99:617,0,403	5	0	2	0
chr4	87615730	87615733	ATAG	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	983	222	100	33	184	350	0.272131	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	514.71	21	chr4	87615730	.	ATAG	*	514.71	.	AC=6;AF=0.429;AN=14;DP=257;ExcessHet=0.0509;FS=0;MLEAC=6;MLEAF=0.429;MQ=58.07;QD=3.06;SOR=0.724	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:20,12:32:99:.:.:405,0,798:.	2	1	4	0
chr4	87615734	87615767	CAGTGACAGCAGCAACAGCAGTGACAGCAGCGAT	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	1008	200	99	33	182	347	0.292035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	601.9	21	chr4	87615734	.	CAGTGACAGCAGCAACAGCAGTGACAGCAGCGAT	*	601.9	.	AC=6;AF=0.429;AN=14;DP=276;ExcessHet=0.0509;FS=0;MLEAC=6;MLEAF=0.429;MQ=57.54;QD=3.58;SOR=0.724	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:20,12:32:99:.:.:405,0,798:.	2	1	4	0
chr4	87615953	87615955	CGA	-	exonic	DSPP	.	nonframeshift deletion	DSPP:NM_014208:exon5:c.3291_3293del:p.D1098del	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	1179	318	11	12	2	37	0.052161	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0128	0.0294	0.0156	0.0188	0	0.0121	0.0161	0.0101	3.84e-05	1	26028	rs748972998	0.0018	0.0011	0.0013	0.0023	0.0064	0.0017	0.0017	0.0058	0.0056	0.0035	0.0004	0.0072	0	0.0031	0.0044	0.0010	0.0023	0.0064	0.0159	0.0080	0.0145	0.0174	0.0253	0.0147	0.0142	0.0194	0.0173	0.0037	0.0828	0.0107	0.0399	0	0.0319	0.0125	0.0160	0.0159	0.0253	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	1622.77	3	chr4	87615952	.	GCGA	G	1622.77	.	AC=2;AF=0.25;AN=8;BaseQRankSum=-0.362;DP=188;ExcessHet=0.6695;FS=1.366;MLEAC=3;MLEAF=0.375;MQ=59.84;MQRankSum=-0.772;QD=11.85;ReadPosRankSum=0.988;SOR=0.544	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:7,21:28:99:0|1:87615952_GCGA_G:586,0,241:87615952	2	0	2	3
chr4	87615957	87615962	AGCAGC	-	exonic	DSPP	.	nonframeshift deletion	DSPP:NM_014208:exon5:c.3295_3300del:p.S1099_S1100del	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	1160	197	41	98	26	263	0.375594	.	.	.	1190239	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	0.0072	0.0216	0.0125	0	0	0.0069	0.0185	0.0054	3.84e-05	1	26028	rs764563712	0.0026	0.0012	0.0018	0.0033	0.0118	0.0024	0.0024	0.0107	0.0103	0.0045	0.0012	0.0117	0	0.0040	0.0070	0.0013	0.0036	0.0118	0.0182	0.0074	0.0165	0.0201	0.0491	0.0168	0.0162	0.0373	0.0332	0.0043	0.1096	0.0100	0.0499	0	0.0412	0.0250	0.0170	0.0196	0.0491	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	1950.11	3	chr4	87615956	.	TAGCAGC	T	1950.11	.	AC=2;AF=0.2;AN=10;BaseQRankSum=1.6;DP=179;ExcessHet=0.2119;FS=0.607;MLEAC=3;MLEAF=0.3;MQ=59.16;MQRankSum=-0.833;QD=12.91;ReadPosRankSum=1.36;SOR=0.599	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:8,21:29:99:0|1:87615952_GCGA_G:583,0,264:87615952	3	0	2	2
chr4	87615962	87615962	C	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	1185	208	24	81	24	210	0.30897	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	299.25	3	chr4	87615962	.	C	*	299.25	.	AC=2;AF=0.25;AN=8;DP=177;ExcessHet=0.2119;FS=1.289;MLEAC=3;MLEAF=0.375;MQ=45.11;QD=2;SOR=0.575	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:8,21:29:99:0|1:87615952_GCGA_G:583,0,264:87615952	2	0	2	3
chr4	87663016	87663016	A	G	exonic	DMP1	.	nonsynonymous SNV	DMP1:NM_001079911:exon5:c.A1190G:p.N397S,DMP1:NM_004407:exon6:c.A1238G:p.N413S	Hypophosphatemic rickets, AR, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.00187386220863	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.42e-06	3.42e-06	2.722e-06	4.125e-06	4.496e-06	1e-06	7.3e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.496e-06	0	0	6.569e-06	6.566e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.472	0.08996	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.012883	0.01348	N	2.309530	1	0.08975	N	-0.345	0.03330	N	1.04	0.40218	T	-0.16	0.09460	N	0.059	0.03069	-0.9447	0.41863	T	0.039	0.16634	T	10	0.04759881	0.04099	T	0.001874	0.03272	T	0.124	0.34239	.	.	0.290962096972	0.28708	0.008433477902571198	0.00807	0.0459716684163	0.04993	0.240108221769	0.02800	T	0.04553	0.27151	T	-0.438261	0.01324	T	-0.867308	0.00768	T	0.235209822654724	0.22197	T	0.659134	0.26825	T	0.018106753	0.00332	0.029846232	0.01368	0.018106753	0.00332	0.029846232	0.01368	-1.429	0.01625	T	0.07201610725143838	0.02917	0.071	0.03773	B	.;.	.;.	-1.832328	0.00146	0.002	0.18400377698509077	0.00577	0.01101	0.04040	N	AEFDBI	0.027203	0.02181	N	-2.31085609007063	0.00043	0.001841818	-2.35329901907144	0.00050	0.002213832	0.999689658472893	0.41756	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.02	-10.0	0.00350	-2.073000	0.01464	-1.650000	0.04986	-1.576000	0.00927	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2344:0.0:0.6688:0.0968	15.426	0.74775	419	0.81524	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	679.49	40	chr4	87663016	.	A	G	679.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.19;DP=289;ExcessHet=0;FS=2.371;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.32;ReadPosRankSum=2.45;SOR=0.971	GT:AD:DP:GQ:PL	0/1:25,26:51:99:690,0,626	6	0	1	0
chr4	89935264	89935264	C	A	exonic	MMRN1	.	nonsynonymous SNV	MMRN1:NM_007351:exon6:c.C1584A:p.D528E,MMRN1:NM_001371403:exon7:c.C1584A:p.D528E	.	434	1087	1	0	0	1	0.00045977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.01002204287	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.84e-07	1.362e-06	0	2.521e-05	0	0	.	.	0	0	0	2.521e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.349	0.12552	T	0.773	0.04431	T	0.006	0.13644	B	0.002	0.06944	B	0.290577	0.03892	N	1.449940	1	0.08975	N	1.245	0.31408	L	0.24	0.64086	T	-0.1	0.16598	N	0.046	0.01825	-0.9707	0.37052	T	0.085	0.33185	T	10	0.037647575	0.02132	T	0.010022	0.26057	T	0.035	0.08770	0.043	0.00046	0.253726318573	0.24972	0.05133742496473169	0.05075	0.0119939315936	0.01133	0.229091510177	0.01901	T	0.030196	0.29212	T	-0.314123	0.07390	T	-0.688992	0.06448	T	0.168213233351707	0.18458	T	0.335866	0.07168	T	0.03657091	0.04525	0.022681538	0.00288	0.03657091	0.04525	0.022681538	0.00288	-2.881	0.08955	T	.	.	0.101	0.17445	B	.;.;.	.;.;.	-2.083295	0.00084	0.001	0.49377730285334864	0.04200	0.01501	0.04973	N	AEFDBI	0.044304	0.07111	N	-1.88043968497568	0.00377	0.01618126	-1.95208806945656	0.00385	0.01701041	0.990464690735158	0.32162	0.631515	0.41029	0	0.573888	0.26702	0	0.573888	0.23631	0	0.741806	0.99463	0	.	.	5.12	-8.65	0.00755	-2.314000	0.01206	-2.746000	0.03404	-2.150000	0.00374	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.3795:0.374:0.0777:0.1687	3.745	0.08071	871	0.31377	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	689.63	34	chr4	89935264	.	C	A	689.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.551;DP=233;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.26;ReadPosRankSum=0.65;SOR=0.698	GT:AD:DP:GQ:PL	0/1:25,27:52:99:700,0,587	6	0	1	0
chr4	99347057	99347057	C	G	exonic	ADH1C	.	nonsynonymous SNV	ADH1C:NM_000669:exon3:c.G208C:p.A70P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.79402	D	0.987	0.61912	D	0.964	0.71005	D	.	.	.	.	.	.	.	1.585	0.39878	L	.	.	.	.	.	.	0.553	0.57860	.	.	.	.	.	.	.	0.45086047	0.58689	T	.	.	.	.	.	.	.	0.456647468687	0.45291	0.8867280223172282	0.88641	.	.	0.398606598377	0.24874	T	0.025436	0.35537	T	0.163225	0.70500	D	-0.00331565	0.70121	D	.	.	.	0.937806	0.78939	D	0.76270866	0.81614	0.69800264	0.82213	0.76270866	0.81615	0.69800264	0.82214	-9.592	0.71430	D	.	.	0.950	0.86857	P	.;.;.	.;.;.	3.454651	0.48119	22.6	0.99707451619795451	0.81074	0.77981	0.38408	D	AEFI	0.799589	0.72581	D	.	.	.	.	.	.	2.3174768173114E-5	0.03498	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.057018	0.00518	0	.	.	3.71	2.86	0.32427	2.765000	0.47304	4.616000	0.44056	0.549000	0.26987	0.378000	0.25989	0.437000	0.24884	0.144000	0.20092	0.0:0.9091:0.0:0.0909	11.418	0.49207	625	0.65529	Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site|Polyketide synthase, enoylreductase domain;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	1470.26	74	chr4	99347057	.	C	G	1470.26	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.608;DP=640;ExcessHet=11.5949;FS=371.344;MLEAC=6;MLEAF=0.5;MQ=59.94;MQRankSum=0;QD=2.7;ReadPosRankSum=-0.101;SOR=10.961	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:23,19:42:99:.:.:171,0,278:.	0	0	6	1
chr4	101870531	101870531	A	G	exonic	BANK1	.	nonsynonymous SNV	BANK1:NM_001127507:exon4:c.A391G:p.N131D,BANK1:NM_001083907:exon5:c.A700G:p.N234D,BANK1:NM_017935:exon5:c.A790G:p.N264D	.	434	1087	1	0	0	1	0.00045977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.0016556788882	.	.	4.139e-05	0	0	0	0	7.52e-05	0	0	3.23e-05	5	154602	rs757403063	1.643e-05	1.642e-05	1.363e-05	1.927e-05	1.98e-05	1.112e-05	9.34e-06	1.296e-05	1.107e-05	0	0	0	0	0	0	1.98e-05	3.316e-05	0	6.579e-06	6.568e-06	0	1.347e-05	1.472e-05	0	0	.	.	0	0	0	0	0	0	0	1.472e-05	0	0	0.249	0.17183	T	0.209	0.27855	T	0.01	0.15535	B	0.006	0.12133	B	0.863542	0.07131	N	1.084050	1	0.08975	N	0.955	0.23872	L	2.89	0.18724	T	-2.26	0.53736	N	0.177	0.19055	-0.9996	0.30030	T	0.034	0.14421	T	10	0.060062736	0.07317	T	0.001656	0.02702	T	0.030	0.07022	0.435	0.48664	0.0884992946249	0.08302	0.3838124739847945	0.38296	0.0225156976006	0.02270	0.253305137157	0.04124	T	0.202972	0.56131	T	-0.465836	0.00903	T	-0.750552	0.03464	T	0.0691446936416757	0.08531	T	0.540346	0.18307	T	0.08510048	0.19727	0.12788557	0.30777	0.08510048	0.19727	0.12788557	0.30776	-9.279	0.70542	D	.	.	0.083	0.14062	B	.;.;.;.;.	.;.;.;.;.	-0.235752	0.02913	0.422	0.93534444315049581	0.23357	0.03442	0.08582	N	AEFI	0.055901	0.10291	N	-1.43134781589623	0.02367	0.1044674	-1.54588987022547	0.02004	0.09157627	0.967102462698091	0.28953	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.63	-7.91	0.01031	-0.506000	0.06441	-1.029000	0.06554	-0.208000	0.08445	0.038000	0.20882	0.000000	0.08366	0.250000	0.23263	0.2568:0.3571:0.3861:0.0	7.588	0.27174	949	0.11373	.;DBB domain|DBB domain|DBB domain;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	285.27	34	chr4	101870531	.	A	G	285.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.579;DP=224;ExcessHet=0;FS=1.154;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=5.71;ReadPosRankSum=-0.593;SOR=0.495	GT:AD:DP:GQ:PL	0/1:34,16:50:99:295,0,847	5	0	1	1
chr4	103656225	103656225	T	C	exonic	TACR3	.	nonsynonymous SNV	TACR3:NM_001059:exon3:c.A857G:p.K286R	Hypogonadotropic hypogonadism 11 with or without anosmia, Autosomal recessive	1	1500	20	1	0	22	0.00727995	.	.	.	438891	Hypogonadotropic_hypogonadism_11_with_or_without_anosmia|not_specified|not_provided	MONDO:MONDO:0013913,MedGen:C3553844,OMIM:614840,Orphanet:478|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.082	.	0.0078	0.0125799	0.0037	0.0244	0.0037	0.0049	0	0.0015	0.0066	0.0004	0.0037128	574	154602	rs2276973	0.0020	0.0020	0.0020	0.0020	0.0278	0.0019	0.0019	0.0264	0.0258	0.0278	0.0049	0.0021	0.0030	5.617e-05	0.0155	0.0010	0.0047	0.0005	0.0084	0.0084	0.0085	0.0082	0.0246	0.0080	0.0079	0.0234	0.0229	0.0246	0	0.0068	0.0020	0.0037	0	0.0137	0.0013	0.0118	0.0008	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.006	0.12133	B	0.000000	0.84330	N	0.090435	0.99829	0.44734	D	-1.145	0.00921	N	1.22	0.37052	T	1.13	0.01182	N	0.07	0.04307	-1.0087	0.27323	T	0.004	0.01330	T	10	0.0065711737	0.00149	T	.	.	.	0.082	0.23913	.	.	0.574740180783	0.57141	0.31866114532647033	0.31779	0.275921393324	0.30072	0.514854073524	0.40902	T	0.077116	0.35580	T	-0.64367	0.00079	T	-0.67844	0.07079	T	0.0100539360536265	0.00135	T	0.774523	0.40643	T	0.077552885	0.17610	0.12819299	0.30846	0.077552885	0.17610	0.12819299	0.30845	-1.849	0.02659	T	.	.	0.076	0.05845	B	.	.	2.692017	0.35142	19.82	0.20302096642413928	0.00724	0.94489	0.61330	D	AEFI	0.609590	0.59873	D	-0.660540248401181	0.17153	0.8802791	-0.372296377162333	0.25827	1.422693	0.0123906561700481	0.12320	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.72	3.32	0.37134	3.461000	0.52800	1.687000	0.28047	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.1452:0.0:0.8548	9.255	0.36737	603	0.67726	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.023666	0.055556	0.040761	0.008772	0.000000	0.017241	0.000000	0.007576	0.07143	283.49	33	chr4	103656225	.	T	C	283.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.47;DP=240;ExcessHet=0;FS=1.149;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=4.89;ReadPosRankSum=-0.115;SOR=0.941	GT:AD:DP:GQ:PL	0/1:43,15:58:99:294,0,1038	6	0	1	0
chr4	106925843	106925843	C	T	exonic	DKK2	.	nonsynonymous SNV	DKK2:NM_014421:exon2:c.G329A:p.C110Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.827	0.176637981399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.654e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.0	0.92824	D	0.997	0.70673	D	0.995	0.83170	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.955	0.85029	M	-1.1	0.77336	T	-9.32	0.98533	D	0.932	0.94314	0.412	0.89282	D	0.664	0.88336	D	10	0.98750603	0.99120	D	0.176638	0.85234	D	0.827	0.94503	0.93	0.98900	0.885162981381	0.88403	0.9789097433456503	0.97881	1.10494106084	0.77866	0.885924994946	0.94743	D	0.85182	0.96635	D	0.396691	0.89724	D	0.332043	0.89595	D	0.999862909317017	0.99418	D	0.89791	0.64303	D	0.95217484	0.96487	0.9381204	0.97644	0.95217484	0.96487	0.9381204	0.97644	-13.914	0.92774	D	.	.	0.997	0.96936	P	.;.;.	.;.;.	5.043277	0.83952	28.2	0.99769904833187384	0.85834	0.98670	0.85379	D	AEFBI	0.952747	0.96846	D	0.846721317432968	0.88920	9.763857	0.817088242842445	0.90956	10.64858	0.999999544324329	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.42	5.42	0.78666	7.526000	0.80815	7.598000	0.61467	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	19.578	0.95446	856	0.34373	Dickkopf, N-terminal cysteine-rich;Dickkopf, N-terminal cysteine-rich;Dickkopf, N-terminal cysteine-rich	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	351.06	60	chr4	106925843	.	C	T	351.06	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-2.734;DP=526;ExcessHet=1.383;FS=169.805;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=0.92;ReadPosRankSum=2.55;SOR=8.104	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:51,28:79:99:.:.:132,0,857:.	3	0	3	1
chr4	109816247	109816247	A	T	exonic	GAR1	.	nonsynonymous SNV	GAR1:NM_018983:exon2:c.A83T:p.H28L,GAR1:NM_032993:exon2:c.A83T:p.H28L	.	426	1090	5	1	0	7	0.00320073	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.00603518914283	0.0009	0.000998403	0.0017	0.0002	0.0010	0	0.0054	0.0023	0.0022	0.0004	0.0015912	246	154602	rs147082071	0.0015	0.0015	0.0015	0.0015	0.0034	0.0015	0.0014	0.0022	0.0018	0.0003	0.0015	0.0049	0	0.0054	0.0034	0.0014	0.0015	0.0005	0.0014	0.0014	0.0013	0.0015	0.0017	0.0012	0.0012	0.0015	0.0014	0.0002	0	0.0015	0.0029	0	0.0045	0.0068	0.0017	0.0019	0	0.306	0.14207	T	0.343	0.17857	T	0.18	0.29046	B	0.032	0.22131	B	0.000453	0.44317	D	0.138081	0.672778	0.30349	N	0	0.06538	N	.	.	.	-1.15	0.29525	N	0.519	0.54932	-1.0259	0.21788	T	0.039	0.16720	T	9	0.006375402	0.00144	T	0.006035	0.15757	T	0.101	0.28911	.	.	0.285775778912	0.28195	0.6012140874487679	0.60052	0.419557623521	0.42508	0.660557866096	0.61489	T	0.038788	0.24963	T	-0.362115	0.04012	T	-0.297856	0.44951	T	0.0249425236012697	0.01265	T	0.647535	0.25853	T	0.13480163	0.31306	0.13082172	0.31426	0.13480163	0.31306	0.13082172	0.31426	-6.725	0.51999	T	.	.	0.198	0.42126	B	.;.	.;.	3.555464	0.49998	22.9	0.95192154660772621	0.26375	0.85594	0.44743	D	AEFDBHCI	0.466345	0.51403	N	-0.176009703140445	0.34135	1.944768	-0.00670845671562653	0.39410	2.336349	0.999999994817605	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.685571	0.62057	0	0.638787	0.57140	0	.	.	4.32	4.32	0.50899	2.320000	0.43456	4.088000	0.41786	0.756000	0.94297	0.996000	0.39380	0.998000	0.33993	0.995000	0.73285	1.0:0.0:0.0:0.0	10.054	0.41403	707	0.57054	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007254	0.000000	0.004076	0.024476	0.000000	0.000000	0.006098	0.000000	0.07143	433.49	34	chr4	109816247	.	A	T	433.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.8;DP=297;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.14;ReadPosRankSum=-1.339;SOR=0.614	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:18,15:33:99:0|1:109816233_T_C:444,0,431:109816233	6	0	1	0
chr4	125319813	125319813	A	T	exonic	FAT4	.	nonsynonymous SNV	FAT4:NM_001291285:exon2:c.A3402T:p.E1134D,FAT4:NM_001291303:exon2:c.A3402T:p.E1134D,FAT4:NM_024582:exon2:c.A3402T:p.E1134D	Hennekam lymphangiectasia-lymphedema syndrome 2, Autosomal recessive;Van Maldergem syndrome 2, Autosomal recessive	428	1067	26	1	0	28	0.012951	.	.	.	367549	not_provided|FAT4-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.173	0.0144541808544	0.0010	0.00179712	0.0019	0	0.0021	0	0	0.0021	0.0011	0.0038	0.001727	267	154602	rs144768563	0.0013	0.0013	0.0012	0.0014	0.0075	0.0012	0.0012	0.0057	0.0051	2.987e-05	0.0011	0.0137	0	9.361e-05	0.0075	0.0009	0.0021	0.0033	0.0012	0.0012	0.0013	0.0011	0.0017	0.0011	0.0010	0.0012	0.0011	7.216e-05	0	0.0017	0.0144	0	9.413e-05	0.0034	0.0014	0.0019	0.0006	0.116	0.28395	T	0.0	0.92824	D	0.998	0.73220	D	0.996	0.84481	D	0.003311	0.35125	U	0.000000	0.907685	0.36329	D	1.66	0.42513	L	0.69	0.51714	T	-1.63	0.39119	N	0.353	0.39457	-0.9439	0.41992	T	0.135	0.44991	T	10	0.010653734	0.00236	T	0.014454	0.34575	T	0.173	0.43840	0.38	0.39645	0.340919117937	0.33698	0.2810701322154265	0.28020	0.174844085713	0.19684	0.483602702618	0.36553	T	0.113713	0.43096	T	-0.444686	0.01214	T	-0.412375	0.31951	T	0.0312035878340865	0.02178	T	0.777722	0.41106	T	0.11456356	0.27046	0.1467224	0.34749	0.11456356	0.27045	0.1467224	0.34748	-3.627	0.18248	T	.	.	0.118	0.23952	B	.	.	3.191923	0.43374	21.7	0.99792539538174374	0.87839	0.68613	0.33868	D	AEFDBCI	0.222827	0.34727	N	0.270356902153319	0.54652	3.630344	0.230270769850431	0.51534	3.335199	0.99921897422782	0.38775	0.627647	0.40530	0	0.573888	0.26702	0	0.577349	0.28860	0	0.657601	0.63696	0	.	.	4.87	2.35	0.28166	2.750000	0.47177	1.545000	0.27254	0.756000	0.94297	1.000000	0.71638	0.999000	0.35428	0.990000	0.65344	0.7263:0.1421:0.1316:0.0	6.942	0.23680	932	0.16191	Cadherin-like|Cadherin-like	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.002518	0.000000	0.005435	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	1306.44	73	chr4	125319813	.	A	T	1306.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.689;DP=640;ExcessHet=0;FS=2.655;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.47;ReadPosRankSum=-0.378;SOR=0.741	GT:AD:DP:GQ:PL	0/1:43,54:97:99:1317,0,999	6	0	1	0
chr4	127943985	127943985	G	A	exonic	MFSD8	.	nonsynonymous SNV	MFSD8:NM_001363520:exon4:c.C206T:p.P69L,MFSD8:NM_001363521:exon4:c.C206T:p.P69L,MFSD8:NM_001371590:exon4:c.C71T:p.P24L,MFSD8:NM_001371591:exon4:c.C206T:p.P69L,MFSD8:NM_001371592:exon4:c.C206T:p.P69L,MFSD8:NM_001371593:exon4:c.C206T:p.P69L,MFSD8:NM_001371594:exon4:c.C206T:p.P69L,MFSD8:NM_001371595:exon4:c.C71T:p.P24L,MFSD8:NM_001371596:exon4:c.C206T:p.P69L,MFSD8:NM_152778:exon5:c.C206T:p.P69L	Ceroid lipofuscinosis, neuronal, 7, Autosomal recessive;Macular dystrophy with central cone involvement, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	201757	MFSD8-related_disorder|Inborn_genetic_diseases|not_provided|Neuronal_ceroid_lipofuscinosis_7	.|MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951,Orphanet:168491,Orphanet:228366	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.201	0.0203582627539	0.0002	0.000399361	0.0003	9.814e-05	0	0.0028	0	9.019e-05	0	0.0001	0.0002329	36	154602	rs147750747	0.0002	0.0002	0.0002	0.0001	0.0037	0.0001	0.0001	0.0032	0.0030	0	2.236e-05	0	0.0037	3.745e-05	0	2.698e-05	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0.0035	0.0001	9.698e-05	0.0022	0.0019	0	0	0	0	0.0035	0	0	7.351e-05	0.0005	0.0002	0.062	0.37966	T	0.294	0.20745	T	0.287	0.32229	B	0.052	0.29270	B	0.623601	0.05770	N	1.172490	0.999999	0.08975	N	2.05	0.56469	M	0.9	0.45248	T	-6.13	0.90100	D	0.065	0.04913	-0.9498	0.41006	T	0.115	0.40740	T	10	0.015557677	0.00326	T	0.020358	0.42939	T	0.201	0.48592	.	.	0.117506650769	0.11410	0.24713592090887285	0.24627	0.0965671410047	0.10902	0.321701705456	0.13679	T	0.461354	0.82438	T	-0.522351	0.00426	T	-0.525519	0.19737	T	0.0585141309670721	0.06932	T	0.829317	0.50622	T	0.12100013	0.28462	0.21191187	0.45639	0.111686565	0.26391	0.18197037	0.41093	-8.17	0.62223	D	.	.	0.123	0.41738	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	1.031836	0.14117	10.69	0.86057409408536634	0.16285	0.06613	0.12628	N	AEFBI	0.074591	0.14955	N	-0.773511382421151	0.14002	0.6940768	-0.833749116947097	0.13678	0.7109004	0.108693537299927	0.16589	0.732398	0.92422	0	0.724815	0.89359	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.36	-1.7	0.07721	-0.028000	0.12299	0.177000	0.15587	-0.114000	0.14653	0.009000	0.18154	0.032000	0.21310	0.561000	0.30436	0.0:0.0704:0.4933:0.4363	11.653	0.50559	862	0.33134	Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain;Major facilitator superfamily domain;Major facilitator superfamily domain;Major facilitator superfamily domain;Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain;Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.000000	0.000000	0.002924	0.000000	0.000000	0.006098	0.000000	0.07143	205.83	26	chr4	127943985	.	G	A	205.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.49;DP=181;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.86;ReadPosRankSum=0.927;SOR=0.693	GT:AD:DP:GQ:PL	0/1:8,8:16:99:216,0,180	6	0	1	0
chr4	139889910	139889927	TGCTGCTGCTGCTGCTGC	-	exonic	MAML3	.	nonframeshift deletion	MAML3:NM_018717:exon2:c.1509_1526del:p.Q505_Q510del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1305950655	0.0004	0.0004	0.0004	0.0004	0.0021	0.0004	0.0004	0.0012	0.0010	0.0006	0.0005	0.0048	0.0006	3.816e-05	0.0021	0.0003	0.0011	0.0005	0.0017	0.0016	0.0017	0.0017	0.0034	0.0014	0.0013	0.0024	0.0020	0.0006	0	0.0009	0.0284	0.0030	0	0.0116	0.0034	0.0062	0.0016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	3009.95	73	chr4	139889909	.	TTGCTGCTGCTGCTGCTGC	T	3009.95	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.094;DP=627;ExcessHet=0;FS=2.512;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=24.47;ReadPosRankSum=1.11;SOR=0.49	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:37,22:59:99:0|1:139889909_TTGCTGCTGCTGCTGCTGC_T:788,0,1379:139889909	5	0	1	1
chr4	140563137	140563137	C	G	exonic	UCP1	.	nonsynonymous SNV	UCP1:NM_021833:exon4:c.G601C:p.A201P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.377	0.0293953235492	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.759e-05	0.0002	3.296e-05	2.218e-05	3.267e-05	2.08e-05	1.831e-05	2.392e-05	2.122e-05	3.018e-05	0	0	0	0	0	3.267e-05	1.667e-05	2.335e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.176	0.22312	T	0.203	0.27325	T	0.949	0.53761	P	0.761	0.56482	P	0.008935	0.30598	N	0.367111	1	0.08975	N	3.205	0.89189	M	-1.23	0.78860	T	-2.05	0.47008	N	0.643	0.65501	-0.4766	0.69490	T	0.493	0.80757	T	10	0.76555115	0.76675	D	0.029395	0.51914	D	0.377	0.69527	0.425	0.47021	0.867737003841	0.86645	0.8997779227898309	0.89949	0.733378337434	0.62839	0.275326251984	0.06849	T	0.503659	0.82306	D	0.0583213	0.59402	T	-0.154002	0.58889	T	0.917825281620026	0.57582	D	0.40366	0.10339	T	0.28733265	0.51744	0.26873308	0.52745	0.28733265	0.51744	0.26873308	0.52744	-7.449	0.57250	T	.	.	0.826	0.78531	P	.	.	2.363669	0.30321	18.40	0.99216242249267406	0.55747	0.70984	0.34819	D	AEFBI	0.260905	0.37897	N	-0.150634784784455	0.35206	2.019386	-0.344403961495631	0.26682	1.475416	0.680793574183654	0.22476	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.22	0.338	0.15214	1.750000	0.37956	-0.150000	0.11428	-0.176000	0.10722	0.930000	0.32276	0.000000	0.08366	0.270000	0.23768	0.1804:0.289:0.0:0.5306	3.693	0.07887	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	1667.34	47	chr4	140563137	.	C	G	1667.34	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-1.692;DP=408;ExcessHet=11.5949;FS=373.141;MLEAC=7;MLEAF=0.583;MQ=60;MQRankSum=0;QD=4.61;ReadPosRankSum=-0.677;SOR=9.72	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:26,10:36:86:0|1:140563137_C_G:86,0,804:140563137	0	0	6	1
chr4	140563138	140563138	C	G	exonic	UCP1	.	nonsynonymous SNV	UCP1:NM_021833:exon4:c.G600C:p.E200D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	0.0146202776725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.847e-07	2.052e-06	1.362e-06	0	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.631	0.05137	T	0.791	0.04181	T	0.004	0.12183	B	0.007	0.12992	B	0.003241	0.35241	N	0.324932	0.999999	0.08975	N	0.56	0.15190	N	-1.27	0.79277	T	-0.52	0.16187	N	0.133	0.12913	-1.0108	0.26666	T	0.158	0.49027	T	10	0.05424103	0.05744	T	0.01462	0.34856	T	0.090	0.26093	0.368	0.37687	0.494433119893	0.49078	0.5936266468194845	0.59292	0.149167586053	0.16817	0.271067947149	0.06281	T	0.121596	0.44467	T	-0.194226	0.21639	T	-0.516769	0.20622	T	0.0746878460049629	0.09294	T	0.60264	0.22576	T	0.06687306	0.14429	0.04191142	0.04870	0.06687306	0.14429	0.04191142	0.04870	-4.395	0.29489	T	.	.	0.106	0.19720	B	.	.	0.547365	0.09157	5.942	0.36715842428115708	0.02377	0.06566	0.12580	N	AEFBI	0.061408	0.11738	N	-1.30471918549485	0.03621	0.1620578	-1.29537821251235	0.04493	0.2120394	0.729658486604041	0.23029	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.22	-1.38	0.08554	-1.260000	0.02967	-2.964000	0.03187	-0.218000	0.08083	0.004000	0.16614	0.000000	0.08366	0.312000	0.24784	0.2442:0.2523:0.3582:0.1453	2.216	0.03717	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	1464.34	47	chr4	140563138	.	C	G	1464.34	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.877;DP=414;ExcessHet=11.5949;FS=372.265;MLEAC=7;MLEAF=0.583;MQ=60;MQRankSum=0;QD=4.23;ReadPosRankSum=-0.457;SOR=9.704	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:26,10:36:86:0|1:140563137_C_G:86,0,804:140563137	0	0	6	1
chr4	154584222	154584224	AAG	-	exonic	FGA	.	nonframeshift deletion	FGA:NM_000508:exon6:c.2501_2503del:p.P834_Y835delinsH	Afibrinogenemia, congenital, Autosomal recessive;Amyloidosis, familial visceral, Autosomal dominant;Dysfibrinogenemia, congenital;Hypodysfibrinogenemia, congenital	1	1520	1	0	0	1	0.000328839	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0	0	0	0	0	0.0017	0.0001811	28	154602	rs759551815	0.0001	0.0001	7.081e-05	0.0002	0.0021	0.0001	0.0001	0.0019	0.0018	0	0	0	0	0	0.0002	2.699e-06	4.969e-05	0.0021	5.429e-05	5.339e-05	3.976e-05	6.952e-05	0.0017	2.631e-05	1.883e-05	0.0009	0.0006	0	0	0	0	0	0	0	0	0	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.003788	0.07143	1166.4	33	chr4	154584221	.	TAAG	T	1166.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.757;DP=241;ExcessHet=0;FS=4.237;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=23.8;ReadPosRankSum=0.199;SOR=0.278	GT:AD:DP:GQ:PL	0/1:19,30:49:99:1177,0,698	6	0	1	0
chr4	182789289	182789289	G	A	exonic	TENM3	.	nonsynonymous SNV	TENM3:NM_001080477:exon25:c.G5501A:p.R1834Q	Microphthalmia, isolated, with coloboma 9, Autosomal recessive	429	1091	2	0	0	2	0.000915751	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.549	0.0900201114849	.	.	2.557e-05	0	0	0	0	3.055e-05	0	6.409e-05	1.94e-05	3	154602	rs199658018	1.779e-05	1.779e-05	1.498e-05	2.063e-05	3.482e-05	1.238e-05	1.052e-05	1.175e-05	9.55e-06	2.987e-05	0	0	0	0	0	1.799e-05	3.313e-05	3.482e-05	6.567e-06	6.562e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.176	0.22312	T	0.011	0.64786	D	0.993	0.65571	D	0.441	0.45749	B	.	.	.	.	0.999998	0.58761	D	2.31	0.66127	M	-2.18	0.86722	D	-2.93	0.61284	D	0.65	0.66101	0.224	0.86312	D	0.640	0.87407	D	9	0.62850934	0.68381	D	0.09002	0.75438	D	0.549	0.81310	0.476	0.55342	0.533608796238	0.53011	0.5201900716735522	0.51942	0.694422212937	0.60765	0.664324760437	0.62027	T	0.578835	0.86176	D	0.0120732	0.53308	T	-0.0382873	0.67817	D	0.898232460021973	0.55029	D	0.968103	0.88413	D	0.17245907	0.37939	0.21692355	0.46338	0.17245907	0.37938	0.21692355	0.46337	-7.9	0.60387	D	0.5240659145555909	0.59589	0.403	0.59722	A	.	.	4.759492	0.76940	26.6	0.99954228181075422	0.99963	0.99213	0.92899	D	AEFDBI	0.899115	0.84314	D	0.650162927990573	0.76379	6.475611	0.661294050242677	0.79454	7.085917	0.999999995825627	0.74766	0.706298	0.61202	0	0.573888	0.26702	0	0.724815	0.87919	0	0.613276	0.41899	0	.	.	4.8	4.8	0.61157	9.968000	0.99102	11.808000	0.96852	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	18.424	0.90550	984	0.02857	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	954.53	33	chr4	182789289	.	G	A	954.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.1;DP=251;ExcessHet=0;FS=1.921;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.08;ReadPosRankSum=-0.857;SOR=0.954	GT:AD:DP:GQ:PL	0/1:34,39:73:99:965,0,790	6	0	1	0
chr4	186619789	186619789	T	G	exonic	FAT1	.	nonsynonymous SNV	FAT1:NM_005245:exon10:c.A6797C:p.E2266A	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.246	0.0390028849331	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.737e-06	2.736e-06	4.084e-06	1.375e-06	3.598e-06	6.4e-07	4.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.598e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.004	0.74150	D	0.74	0.42962	P	0.642	0.52168	P	0.000003	0.62929	D	0.101609	1	0.81001	D	2.435	0.70606	M	4.75	0.01589	T	-5.63	0.86836	D	0.407	0.44761	-0.8553	0.51599	T	0.015	0.06234	T	10	0.3662235	0.53122	T	0.039003	0.58559	D	0.246	0.55340	0.449	0.50957	0.53974568202	0.53626	0.3396355049547769	0.33876	0.429115172749	0.43209	0.567936718464	0.48386	T	0.373183	0.73723	T	-0.0669928	0.41808	T	-0.334007	0.41021	T	0.989304304122925	0.79549	D	0.984402	0.94639	D	0.6429718	0.74989	0.47135136	0.69348	0.6429718	0.74991	0.47135136	0.69349	-9.032	0.67903	D	.	.	0.168	0.36966	B	.;.	.;.	3.922962	0.57282	23.8	0.99391134785517099	0.62337	0.96329	0.68606	D	AEFBCI	0.913068	0.87455	D	0.222136096986925	0.52273	3.402506	0.159031994710729	0.47622	2.989723	0.999999999951653	0.74766	0.67177	0.52595	0	0.573888	0.26702	0	0.702456	0.68683	0	0.668105	0.65232	0	.	.	5.05	5.05	0.67566	8.017000	0.88732	7.904000	0.73702	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.201000	0.21925	0.0:0.0:0.0:1.0	14.953	0.70741	889	0.27310	Cadherin-like;Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	424.44	62	chr4	186619789	.	T	G	424.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.97;DP=354;ExcessHet=0;FS=2.482;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.32;ReadPosRankSum=-0.471;SOR=0.379	GT:AD:DP:GQ:PL	0/1:40,18:58:99:435,0,1092	6	0	1	0
chr5	191939	191939	G	A	exonic	LRRC14B	.	nonsynonymous SNV	LRRC14B:NM_001080478:exon1:c.G401A:p.R134H	.	432	1088	2	0	0	2	0.000918274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.283	.	0.0063	0.0091853	0.0007	0.0236	0	0	.	0	0	0	0.0007762	120	154602	rs182961336	0.0008	0.0008	0.0009	0.0007	0.0290	0.0008	0.0008	0.0275	0.0268	0.0290	0.0014	0	0	0	0.0014	7.316e-05	0.0015	0.0001	0.0077	0.0077	0.0080	0.0074	0.0268	0.0073	0.0072	0.0255	0.0250	0.0268	0	0.0026	0	0	0	0	0.0001	0.0062	0	0.0	0.91255	D	0.008	0.67890	D	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.046501	0.999812	0.49394	D	2.81	0.81869	M	4.75	0.01589	T	-2.9	0.60827	D	0.748	0.74735	-1.0830	0.06776	T	0.006	0.01907	T	10	0.008790135	0.00199	T	.	.	.	0.283	0.60100	.	.	0.418964662724	0.41514	0.5863541910614805	0.58565	0.897036786801	0.70495	0.873377561569	0.93048	D	0.103221	0.41167	T	-0.406176	0.02108	T	-0.336623	0.40726	T	0.0187384102381044	0.00586	T	0.89551	0.63622	D	0.6519371	0.75467	0.5017618	0.71197	0.6519371	0.75469	0.5017618	0.71198	-4.894	0.35667	T	.	.	0.564	0.67399	P	.	.	5.291627	0.88845	29.8	0.99947943130104289	0.99923	0.96499	0.69444	D	AEFDGBHCI	0.904611	0.85511	D	0.757056991497039	0.83365	7.998108	0.731650462957789	0.84779	8.388888	1.0	0.98316	0.517182	0.21443	0	0.552344	0.17405	0	0.478664	0.07449	1	0.562822	0.20929	0	.	.	5.06	5.06	0.67838	9.338000	0.96439	11.540000	0.93128	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.961000	0.51904	0.0:0.0:1.0:0.0	15.907	0.79222	867	0.32089	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006322	0.011494	0.004886	0.000000	0.000000	0.000000	0.007092	0.000000	0.07143	399.63	30	chr5	191939	.	G	A	399.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.17;DP=181;ExcessHet=0;FS=1.808;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=19.03;ReadPosRankSum=-0.468;SOR=0.375	GT:AD:DP:GQ:PL	0/1:6,15:21:99:410,0,102	6	0	1	0
chr5	840546	840546	A	G	exonic	ZDHHC11	.	nonsynonymous SNV	ZDHHC11:NM_024786:exon5:c.T733C:p.F245L	.	396	1053	73	0	0	73	0.0335016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.00104621411682	.	.	0.0014	0.0052	0.0006	0.0024	0	0.0009	0.0033	0.0016	1.29e-05	2	154602	rs201008730	0.0002	0.0040	0.0002	0.0002	0.0021	0.0002	0.0002	0.0012	0.0010	0.0003	0.0004	3.833e-05	0.0005	1.883e-05	0.0021	0.0002	0.0004	0.0005	0.0008	0.0098	0.0009	0.0007	0.0031	0.0007	0.0006	0.0019	0.0015	0.0017	0	0.0005	0	0.0031	0	0	0.0003	0.0020	0.0008	1.0	0.10802	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	0.09	0.08384	N	1.96	0.38556	T	1.6	0.33197	N	0.112	0.09914	-1.0577	0.12337	T	0.035	0.15074	T	9	0.0083985925	0.00191	T	0.001046	0.01167	T	0.099	0.28413	0.536	0.64585	0.149567049428	0.14543	0.32164779350983813	0.32077	0.066022613777	0.07365	0.213868185878	0.00987	T	0.002805	0.02196	T	-0.181055	0.23578	T	-0.49785	0.22571	T	0.00374376377463194	0.00040	T	0.242976	0.05020	T	0.03805676	0.04996	0.03860824	0.03767	0.03805676	0.04996	0.03860824	0.03767	-0.686	0.01569	T	.	.	0.157	0.42678	B	.;.;.	.;.;.	-1.027763	0.00732	0.022	0.082392823127223083	0.00061	0.00186	0.01083	N	AEFDGBI	0.019948	0.00741	N	-2.1408184491181	0.00104	0.004452357	-2.2138367864308	0.00104	0.004581189	0.998039345530398	0.36340	0.695654	0.57023	0	0.588066	0.40923	0	0.723109	0.80598	0	0.604944	0.38103	0	.	.	2.74	-5.47	0.02396	-0.923000	0.04109	-7.847000	0.01075	-0.595000	0.04637	0.000000	0.06391	0.000000	0.08366	0.065000	0.16320	0.0968:0.231:0.1463:0.5259	3.145	0.06079	946	0.12043	Palmitoyltransferase, DHHC domain;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.013904	0.043210	0.009537	0.004202	0.000000	0.008621	0.023649	0.004065	0.07143	184.44	38	chr5	840546	.	A	G	184.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.347;DP=415;ExcessHet=0;FS=8.653;MLEAC=1;MLEAF=0.071;MQ=58.27;MQRankSum=-12.88;QD=1;ReadPosRankSum=-2.354;SOR=1.681	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:166,18:184:99:0|1:840529_G_C:195,0,6793:840529	6	0	1	0
chr5	35010069	35010069	A	C	exonic	AGXT2	.	nonsynonymous SNV	AGXT2:NM_001306173:exon10:c.T1044G:p.D348E,AGXT2:NM_031900:exon12:c.T1269G:p.D423E	.	422	1094	5	1	0	7	0.00318907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.503	.	7.7e-05	0.0091853	0.0042	0.0002	0.0002	0	0	1.498e-05	0.0033	0.0305	0.003758	581	154602	rs199631717	0.0019	0.0019	0.0010	0.0027	0.0300	0.0018	0.0018	0.0290	0.0286	2.987e-05	2.236e-05	3.826e-05	0.0001	0	0.0007	7.194e-06	0.0018	0.0300	0.0011	0.0011	0.0007	0.0014	0.0325	0.0009	0.0009	0.0284	0.0268	7.213e-05	0	6.539e-05	0	0	0	0	1.47e-05	0	0.0325	0.28	0.15509	T	0.372	0.22084	T	0.205	0.29827	B	0.143	0.33763	B	0.000000	0.84330	D	0.044760	0.999881	0.50402	D	0.275	0.09989	N	-1.96	0.85091	D	-2.1	0.49352	N	0.26	0.33687	-0.3860	0.72466	T	0.464	0.79257	T	10	0.0077031255	0.00175	T	.	.	.	0.503	0.78538	0.352	0.35084	0.892621498136	0.89155	0.6005195315545766	0.59982	0.0779575711569	0.08777	0.416446477175	0.27348	T	0.179583	0.53062	T	-0.284612	0.10185	T	-0.15929	0.58416	T	0.0795240677794857	0.09925	T	0.792521	0.43410	T	0.13472976	0.31292	0.22514628	0.47450	0.13472976	0.31292	0.22514628	0.47449	-3.43	0.16614	T	.	.	0.105	0.28116	B	.;.;.	.;.;.	1.405033	0.18197	13.60	0.81092399111159652	0.13516	0.82681	0.41875	D	AEFBI	0.613159	0.60096	D	-0.125742201064898	0.36273	2.094512	-0.0340773496550493	0.38185	2.246245	0.982302669044052	0.30380	0.446893	0.09132	0	0.547309	0.14657	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.67	3.19	0.35720	1.639000	0.36791	0.336000	0.17333	0.756000	0.94297	1.000000	0.71638	0.546000	0.25442	0.968000	0.53726	0.7894:0.0:0.2106:0.0	9.282	0.36896	722	0.55239	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004032	0.000000	0.000000	0.005848	0.000000	0.000000	0.003067	0.015152	0.07143	683.63	40	chr5	35010069	.	A	C	683.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.4;DP=259;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.55;ReadPosRankSum=0.203;SOR=0.581	GT:AD:DP:GQ:PL	0/1:21,26:47:99:694,0,482	6	0	1	0
chr5	38933018	38933018	-	TATC	exonic	OSMR	.	frameshift insertion	OSMR:NM_001323505:exon18:c.2514_2515insTATC:p.L841Sfs*18,OSMR:NM_001323506:exon18:c.2517_2518insTATC:p.L842Sfs*18,OSMR:NM_003999:exon18:c.2514_2515insTATC:p.L841Sfs*18	Amyloidosis, primary localized cutaneous, 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.239e-06	0	0	0	0	0	0	6.057e-05	6.5e-06	1	154602	rs767494092	1.026e-05	1.026e-05	6.806e-06	1.375e-05	0.0001	6.16e-06	4.89e-06	7.997e-05	6.236e-05	0	0	0	0	0	0	0	4.967e-05	0.0001	1.314e-05	1.312e-05	1.285e-05	1.343e-05	0.0004	2.18e-06	8.2e-07	7.299e-05	3.032e-05	0	0	0	0	0	0	0	0	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	768.79	33	chr5	38933018	.	T	TTATC	768.79	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.172;DP=215;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=19.22;ReadPosRankSum=-0.487;SOR=0.892	GT:AD:DP:GQ:PL	0/1:20,20:40:99:779,0,773	6	0	1	0
chr5	55272147	55272147	G	A	exonic	DHX29	.	nonsynonymous SNV	DHX29:NM_001345964:exon18:c.C2651T:p.T884M,DHX29:NM_001345965:exon18:c.C896T:p.T299M,DHX29:NM_019030:exon18:c.C2804T:p.T935M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.872	0.454609514804	.	.	2.519e-05	0	0	0	0	4.567e-05	0	0	1.94e-05	3	154602	rs764979980	2.59e-05	2.805e-05	2.785e-05	2.394e-05	0.0004	1.911e-05	1.669e-05	6.145e-05	2.541e-05	0	2.576e-05	0	5.39e-05	0	0.0004	2.641e-05	1.694e-05	2.515e-05	1.315e-05	1.314e-05	0	2.694e-05	1.47e-05	2.19e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0.0005	0	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	4.65	0.99371	H	-0.94	0.75325	T	-5.89	0.88767	D	0.946	0.95374	0.796	0.94360	D	0.743	0.91216	D	10	0.92028034	0.91383	D	0.45461	0.94404	D	0.872	0.96170	.	.	0.965160772665	0.96479	0.8891540792296637	0.88884	0.885982533807	0.69996	0.890087544918	0.95271	D	0.831543	0.95983	D	0.336342	0.85591	D	0.384058	0.91574	D	0.998097598552704	0.93215	D	0.985001	0.94819	D	0.83544123	0.86284	0.6600412	0.80083	0.83544123	0.86285	0.6600412	0.80084	-9.959	0.73665	D	.	.	0.945	0.86413	P	.;.	.;.	5.635617	0.92705	32	0.99896337669223101	0.96895	0.98988	0.89600	D	AEFGBI	0.895026	0.83462	D	1.0910463921432	0.97964	17.12875	0.984378395948851	0.98302	17.91576	0.999999221684717	0.74766	0.732398	0.92422	0	0.708844	0.79440	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.13	5.13	0.69729	9.529000	0.97109	11.801000	0.96654	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	18.949	0.92609	483	0.77230	Helicase, C-terminal|Helicase, C-terminal|Helicase, C-terminal|Helicase, C-terminal;Helicase, C-terminal|Helicase, C-terminal|Helicase, C-terminal|Helicase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	271.63	33	chr5	55272147	.	G	A	271.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.966;DP=198;ExcessHet=0;FS=1.483;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.37;ReadPosRankSum=-2.414;SOR=1.179	GT:AD:DP:GQ:PL	0/1:16,13:29:99:282,0,332	6	0	1	0
chr5	71502726	71502726	A	T	exonic	BDP1	.	nonsynonymous SNV	BDP1:NM_018429:exon15:c.A2176T:p.I726L	.	9	1431	74	8	0	90	0.0304878	.	.	.	500910	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.024	.	0.0048	0.00379393	0.0056	0.0011	0.0047	0.0001	0.0002	0.0076	0.0100	0.0059	0.0054462	842	154602	rs34588160	0.0050	0.0050	0.0048	0.0053	0.0520	0.0049	0.0049	0.0472	0.0453	0.0027	0.0068	0.0287	0.0001	0.0001	0.0520	0.0043	0.0085	0.0068	0.0047	0.0047	0.0047	0.0048	0.0094	0.0045	0.0043	0.0082	0.0077	0.0008	0	0.0094	0.0314	0	0	0.0646	0.0054	0.0090	0.0060	0.964	0.02079	T	0.446	0.13103	T	0.001	0.07471	B	0.001	0.04355	B	0.073714	0.02279	N	1.858550	1	0.08975	N	0.69	0.16971	N	2.77	0.11407	T	-0.21	0.10308	N	0.136	0.13484	-0.9768	0.35727	T	0.012	0.04510	T	10	0.0032429397	0.00055	T	.	.	.	0.024	0.04979	0.078	0.00601	0.0666544352282	0.05500	0.03314513103180605	0.03262	0.0372861232549	0.03950	0.247713685036	0.03531	T	0.005732	0.11224	T	-0.727399	0.00025	T	-0.81349	0.01588	T	0.00146636472080958	0.00015	T	0.616838	0.23625	T	0.023202907	0.01041	0.03177215	0.01813	0.024720207	0.01331	0.035487026	0.02809	-2.516	0.05891	T	.	.	0.094	0.14385	B	.;.	.;.	0.290408	0.06670	3.169	0.64207342975242188	0.07430	0.01812	0.05644	N	AEFBI	0.034522	0.04290	N	-1.79741032345659	0.00551	0.02374199	-1.90727798069213	0.00474	0.02097533	0.998651112745746	0.37392	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.7	-9.41	0.00518	-1.979000	0.01583	-0.794000	0.07402	-0.118000	0.14412	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.1906:0.1176:0.6918:0.0	13.604	0.61503	368	0.84463	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.048338	0.020202	0.069293	0.067251	0.000000	0.077586	0.021341	0.015152	0.1429	594.65	33	chr5	71502726	.	A	T	594.65	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.03;DP=214;ExcessHet=0.3476;FS=0.908;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=8.15;ReadPosRankSum=1.33;SOR=0.906	GT:AD:DP:GQ:PL	0/1:11,13:24:99:266,0,238	5	0	2	0
chr5	82303831	82303838	AGGTATGG	-	exonic	ATP6AP1L	.	frameshift deletion	ATP6AP1L:NM_001349374:exon5:c.68_69del:p.R24Gfs*13	.	3	222	1	0	0	1	0.00224719	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.255e-05	5.25e-05	2.571e-05	8.06e-05	0.0017	2.556e-05	1.829e-05	0.0008	0.0006	0	0	0	0	0	0	0	0	0	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1430.4	35	chr5	82303830	.	CAGGTATGG	C	1430.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.938;DP=315;ExcessHet=0;FS=2.07;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=21.04;ReadPosRankSum=0.16;SOR=0.436	GT:AD:DP:GQ:PL	0/1:31,37:68:99:1441,0,1190	6	0	1	0
chr5	83111112	83111112	T	C	exonic	XRCC4	.	nonsynonymous SNV	XRCC4:NM_001318012:exon3:c.T224C:p.L75S,XRCC4:NM_001318013:exon3:c.T224C:p.L75S,XRCC4:NM_003401:exon3:c.T224C:p.L75S,XRCC4:NM_022406:exon3:c.T224C:p.L75S,XRCC4:NM_022550:exon3:c.T224C:p.L75S	Short stature, microcephaly, and endocrine dysfunction, Autosomal recessive	426	1090	6	0	0	6	0.00274474	.	.	.	721575	Short_stature,_microcephaly,_and_endocrine_dysfunction|not_provided	MONDO:MONDO:0014686,MedGen:C4225288,OMIM:616541,Orphanet:436182|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.124	0.0106737236099	0.0016	0.000599042	0.0015	0.0005	0.0008	0	0.0029	0.0018	0.0022	0.0016	0.0015394	238	154602	rs61762970	0.0022	0.0022	0.0023	0.0022	0.0026	0.0022	0.0021	0.0025	0.0025	0.0004	0.0002	0	0	0.0026	0.0002	0.0026	0.0011	0.0015	0.0013	0.0013	0.0015	0.0011	0.0023	0.0011	0.0011	0.0020	0.0019	0.0002	0	0.0003	0	0	0.0015	0	0.0023	0.0019	0.0012	0.002	0.72154	D	0.005	0.72224	D	0.65	0.40644	P	0.191	0.44046	B	0.083172	0.20768	N	0.434279	0.997734	0.22531	N	0	0.06538	N	2.7	0.12162	T	-1.35	0.33598	N	0.148	0.15046	-1.0262	0.21690	T	0.027	0.11663	T	10	0.00827989	0.00188	T	0.010674	0.27473	T	0.124	0.34239	.	.	0.224531998449	0.22054	0.2700491595634064	0.26917	0.0299867894098	0.03088	0.342457175255	0.16806	T	0.073562	0.34727	T	-0.469064	0.00861	T	-0.44422	0.28337	T	0.0341677774796583	0.02665	T	0.607039	0.23656	T	0.37845424	0.59204	0.22157621	0.46972	0.37845424	0.59205	0.22157621	0.46971	-3.289	0.13879	T	0.1286705915347484	0.13354	0.214	0.44306	B	.;.;.;.	.;.;.;.	3.245992	0.44328	21.9	0.99676086110471995	0.78912	0.92112	0.54971	D	AEFDI	0.239586	0.36152	N	-0.112757633092088	0.36836	2.134698	-0.016539568394433	0.38968	2.303484	0.999926282097277	0.46280	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.56	5.56	0.83678	3.673000	0.54326	3.446000	0.38414	0.609000	0.47794	0.993000	0.37899	0.996000	0.32793	0.201000	0.21925	0.0:0.0:0.0:1.0	15.699	0.77280	868	0.31772	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.07143	597.63	33	chr5	83111112	.	T	C	597.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.132;DP=222;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.23;ReadPosRankSum=-1.656;SOR=0.836	GT:AD:DP:GQ:PL	0/1:14,28:42:99:608,0,251	6	0	1	0
chr5	102270770	102270770	G	A	exonic	SLCO4C1	.	nonsynonymous SNV	SLCO4C1:NM_180991:exon3:c.C656T:p.T219I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.0115028280006	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1175652348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.32e-05	1.315e-05	1.289e-05	1.352e-05	1.472e-05	2.19e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.472e-05	0.0005	0	0.142	0.25457	T	0.256	0.23298	T	0.038	0.21002	B	0.103	0.30945	B	0.114133	0.02666	N	1.718550	1	0.08975	N	1.27	0.32069	L	1.09	0.39223	T	-2.68	0.57275	D	0.157	0.16308	-1.0216	0.23195	T	0.093	0.35336	T	10	0.06457871	0.08585	T	0.011503	0.29187	T	0.013	0.01715	0.505	0.59924	0.104622674875	0.10061	0.2586394306084872	0.25777	0.0495080261756	0.05423	0.311373412609	0.12114	T	0.040704	0.25615	T	-0.240781	0.15248	T	-0.583642	0.14221	T	0.113470774417171	0.13780	T	0.229177	0.03066	T	0.07753631	0.17604	0.073808745	0.16079	0.07753631	0.17604	0.073808745	0.16078	-4.183	0.26505	T	.	.	0.078	0.06663	B	.	.	0.696501	0.10651	7.351	0.97305176174551633	0.33299	0.03945	0.09343	N	AEFBI	0.071942	0.14339	N	-1.05011044505534	0.07585	0.3528671	-1.09197903977378	0.07857	0.3839092	0.0203658458362758	0.13251	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.72	-1.11	0.09336	-0.445000	0.06918	-0.879000	0.07072	-0.667000	0.04321	0.000000	0.06391	0.000000	0.08366	0.064000	0.16252	0.1348:0.1105:0.3048:0.4499	2.952	0.05506	344	0.85734	Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	53.52	31	chr5	102270770	.	G	A	53.52	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.148;DP=195;ExcessHet=0;FS=22.079;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=1.85;ReadPosRankSum=0.264;SOR=3.705	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:19,10:29:64:0|1:102270769_T_C:64,0,553:102270769	6	0	1	0
chr5	112266272	112266272	C	T	exonic	EPB41L4A	.	nonsynonymous SNV	EPB41L4A:NM_001347887:exon5:c.G394A:p.V132I,EPB41L4A:NM_001347888:exon5:c.G394A:p.V132I,EPB41L4A:NM_022140:exon5:c.G394A:p.V132I	.	429	1069	24	0	0	24	0.0111008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	.	0.0087	0.00579073	0.0101	0.0164	0.0057	0	0.0304	0.0100	0.0208	0.0079	0.0072832	1126	154602	rs34008454	0.0077	0.0077	0.0078	0.0075	0.0135	0.0075	0.0075	0.0124	0.0120	0.0135	0.0049	0.0121	2.52e-05	0.0204	0.0104	0.0072	0.0083	0.0064	0.0094	0.0094	0.0093	0.0094	0.0136	0.0090	0.0088	0.0127	0.0123	0.0136	0	0.0075	0.0110	0	0.0193	0.0102	0.0067	0.0095	0.0044	0.216	0.19225	T	0.275	0.22016	T	0.001	0.07471	B	0.001	0.04355	B	0.183255	0.17045	N	0.577929	0.999956	0.19072	N	-0.895	0.01383	N	-1.11	0.77466	T	0.48	0.03041	N	0.126	0.11912	-0.9832	0.34258	T	0.115	0.40717	T	10	0.008863032	0.00201	T	.	.	.	0.117	0.32689	.	.	0.452168903601	0.44841	0.0913371297137528	0.09066	0.0366702886383	0.03882	0.254688203335	0.04278	T	0.022813	0.17520	T	-0.595195	0.00156	T	-0.616702	0.11447	T	0.00104275352367141	0.00010	T	0.472453	0.14032	T	0.044025	0.06964	0.040126055	0.04266	0.0315337	0.03011	0.040126055	0.04266	-3.05	0.10730	T	0.07819312253352015	0.03734	0.061	0.01197	B	.;.	.;.	0.434614	0.08048	4.771	0.87545910905454083	0.17305	0.04278	0.09817	N	AEFI	0.041928	0.06440	N	-1.13582315396331	0.06016	0.275865	-1.05088707465384	0.08688	0.4284389	0.168075642050029	0.17694	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.91	3.1	0.34780	-0.024000	0.12382	-1.557000	0.05176	-0.869000	0.02574	0.005000	0.17040	0.000000	0.08366	0.001000	0.02609	0.1527:0.5019:0.0:0.3455	4.082	0.09407	575	0.70088	FERM central domain|Band 4.1 domain|FERM domain|Band 4.1 domain|FERM central domain;FERM central domain|Band 4.1 domain|FERM domain|Band 4.1 domain|FERM central domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.020284	0.010204	0.036685	0.014706	0.055556	0.017241	0.012579	0.015152	0.08333	75.27	27	chr5	112266272	.	C	T	75.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.352;DP=174;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=4.18;ReadPosRankSum=-1.289;SOR=0.859	GT:AD:DP:GQ:PL	0/1:13,5:18:85:85,0,321	5	0	1	1
chr5	112838980	112838980	T	C	exonic	APC	.	nonsynonymous SNV	APC:NM_001127511:exon14:c.T3332C:p.L1111S,APC:NM_001354897:exon15:c.T3416C:p.L1139S,APC:NM_001354899:exon15:c.T3302C:p.L1101S,APC:NM_001354901:exon15:c.T3209C:p.L1070S,APC:NM_001354902:exon15:c.T3113C:p.L1038S,APC:NM_001354905:exon15:c.T2906C:p.L969S,APC:NM_000038:exon16:c.T3386C:p.L1129S,APC:NM_001354895:exon16:c.T3386C:p.L1129S,APC:NM_001354898:exon16:c.T3311C:p.L1104S,APC:NM_001354900:exon16:c.T3263C:p.L1088S,APC:NM_001354903:exon16:c.T3083C:p.L1028S,APC:NM_001354904:exon16:c.T3008C:p.L1003S,APC:NM_001127510:exon17:c.T3386C:p.L1129S,APC:NM_001354896:exon17:c.T3440C:p.L1147S,APC:NM_001354906:exon17:c.T2537C:p.L846S	Adenoma, periampullary, somatic (3);Adenomatous polyposis coli, Autosomal dominant;Brain tumor-polyposis syndrome 2, Autosomal dominant;Colorectal cancer, somatic;Desmoid disease, hereditary, Autosomal dominant;Gardner syndrome, Autosomal dominant;Gastric cancer, somatic;Hepatoblastoma, somatic	1	1520	1	0	0	1	0.000328839	.	.	YES	49941	Familial_multiple_polyposis_syndrome|not_specified|Carcinoma_of_colon|Hereditary_cancer-predisposing_syndrome|APC-Associated_Polyposis_Disorders|Classic_or_attenuated_familial_adenomatous_polyposis|Familial_adenomatous_polyposis_1|not_provided	MONDO:MONDO:0021055,MedGen:C0032580,OMIM:PS175100,Orphanet:733|MedGen:CN169374|MONDO:MONDO:0002032,MedGen:C0699790|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN239210|MONDO:MONDO:0021057,MedGen:CN372698|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.417	0.0641452280538	0.0024	0.000998403	0.0016	0.0009	0.0010	0	0.0003	0.0026	0.0011	0	0.0019081	295	154602	rs143638171	0.0043	0.0043	0.0043	0.0044	0.0054	0.0042	0.0042	0.0053	0.0052	0.0010	0.0015	7.653e-05	0	0.0004	0.0010	0.0054	0.0038	3.478e-05	0.0024	0.0024	0.0026	0.0022	0.0038	0.0022	0.0021	0.0034	0.0032	0.0008	0.0154	0.0035	0	0	0.0002	0.0068	0.0038	0.0028	0	0.003	0.68238	D	0.433	0.28575	T	0.421	0.35387	B	0.157	0.34536	B	0.014000	0.28669	N	0.299915	0.820739	0.34772	D	0.895	0.22405	L	-3.48	0.94584	D	0.52	0.07444	N	0.777	0.80473	0.400	0.89103	D	0.599	0.85731	D	10	0.009671479	0.00218	T	0.064145	0.69186	D	0.417	0.72705	.	.	0.987077386908	0.98693	0.40124037910776533	0.40039	.	.	0.614633202553	0.54970	T	0.401597	0.75886	T	0.0489547	0.58209	T	0.299878	0.88193	D	0.0404061929384685	0.03763	T	0.882612	0.60317	D	0.090354316	0.21141	0.10983784	0.26477	0.078094356	0.17763	0.12484573	0.30087	-1.881	0.02762	T	0.18782373907201874	0.24504	0.140	0.34427	B	.;.;.;.	.;.;.;.	3.680322	0.52381	23.2	0.99323818785069606	0.59507	0.90425	0.51590	D	AEFBCI	0.593675	0.58891	D	0.192057135389179	0.50818	3.268252	0.338286634619183	0.57805	3.947739	0.943128723371149	0.27554	0.706548	0.73137	0	0.653731	0.59785	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.76	5.76	0.90726	4.601000	0.60798	7.956000	0.75945	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.1369:0.0:0.0:0.8631	11.201	0.47969	610	0.67008	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.001511	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	992.44	37	chr5	112838980	.	T	C	992.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.809;DP=396;ExcessHet=0;FS=4.241;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.25;ReadPosRankSum=-0.047;SOR=0.719	GT:AD:DP:GQ:PL	0/1:39,42:81:99:1003,0,893	6	0	1	0
chr5	113340538	113340538	T	C	exonic	MCC	.	nonsynonymous SNV	MCC:NM_001085377:exon3:c.A608G:p.Y203C	Colorectal cancer, somatic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.00839730238326	.	.	8.287e-06	0	0	0	0	0	0	6.056e-05	1.29e-05	2	154602	rs367697645	1.231e-05	1.231e-05	1.497e-05	9.626e-06	1.259e-05	7.7e-06	6.35e-06	7.31e-06	5.72e-06	0	0	0	0	0	0	1.259e-05	4.967e-05	1.159e-05	1.314e-05	1.313e-05	2.569e-05	0	4.824e-05	2.18e-06	8.2e-07	7.99e-06	2.99e-06	4.824e-05	0	0	0	0	0	0	0	0	0	0.097	0.30943	T	0.174	0.30045	T	0.0	0.02946	B	0.001	0.04355	B	0.053087	0.22838	N	0.294950	0.976986	0.25341	N	.	.	.	1.28	0.35960	T	-0.98	0.25986	N	0.681	0.68777	-1.0629	0.11045	T	0.052	0.22076	T	9	0.28709477	0.46292	T	0.008397	0.22231	T	0.059	0.16972	0.313	0.28774	0.158396225186	0.15383	0.5820264920000067	0.58131	0.0969663117624	0.10951	0.52860891819	0.42837	T	.	.	.	-0.302077	0.08465	T	-0.574835	0.15009	T	0.142822101712227	0.16515	T	0.731327	0.34690	T	.	.	.	.	.	.	.	.	-3.439	0.15587	T	.	.	0.121	0.25133	B	.	.	1.783228	0.22673	15.71	0.91901037552410281	0.21221	0.51234	0.28848	D	AEFBCIJ	0.145070	0.26819	N	-0.644675390902738	0.17615	0.9079517	-0.655301325183882	0.18083	0.9644453	0.991313630493702	0.32446	0.495158	0.18159	0	0.59043	0.45803	0	0.685742	0.62368	0	0.75052	0.99595	0	.	.	4.4	-0.972	0.09774	2.304000	0.43315	0.526000	0.19207	0.665000	0.62972	1.000000	0.71638	0.957000	0.29195	0.843000	0.39806	0.0:0.2253:0.1353:0.6394	5.501	0.16120	921	0.19240	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	476.53	33	chr5	113340538	.	T	C	476.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.415;DP=235;ExcessHet=0;FS=1.314;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.88;ReadPosRankSum=-1.443;SOR=0.393	GT:AD:DP:GQ:PL	0/1:16,21:37:99:487,0,370	6	0	1	0
chr5	116058794	116058794	G	C	exonic	ARL14EPL	.	nonsynonymous SNV	ARL14EPL:NM_001385024:exon3:c.G108C:p.E36D,ARL14EPL:NM_001195581:exon4:c.G306C:p.E102D	.	429	1086	7	0	0	7	0.00321248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0643113331776	.	0.000599042	0.0003	0.0018	0	0	0	0.0003	0	0.0003	0.0001617	25	154602	rs191536495	0.0007	0.0006	0.0007	0.0007	0.0079	0.0006	0.0006	0.0060	0.0054	0.0004	0.0017	0.0002	0	0	0.0079	0.0006	0.0014	0.0003	0.0010	0.0010	0.0011	0.0009	0.0024	0.0009	0.0008	0.0017	0.0015	0.0013	0	0.0024	0	0	0	0.0034	0.0009	0.0024	0	.	.	.	0.671	0.06284	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.59	0.15444	N	0.02	0.62318	T	.	.	.	0.103	0.08646	.	.	.	.	.	.	.	0.011178106	0.00245	T	0.064311	0.69238	D	.	.	.	.	0.655237075846	0.65236	0.3448135929364288	0.34395	.	.	0.47258579731	0.35035	T	0.008521	0.07817	T	-0.456003	0.01040	T	-0.45242	0.27429	T	.	.	.	0.749125	0.37025	T	0.060825154	0.12525	0.20153269	0.44137	0.060825154	0.12525	0.20153269	0.44136	-3.793	0.20700	T	.	.	0.161	0.35540	B	.;.	.;.	1.359653	0.17685	13.31	0.30220502798325843	0.01642	0.84191	0.43274	D	AEFBI	0.260086	0.37831	N	.	.	.	.	.	.	5.06836220341689E-4	0.07176	0.549168	0.22868	0	0.573888	0.26702	0	0.547309	0.15389	0	0.616125	0.45549	0	.	.	5.84	4.97	0.65419	0.937000	0.28549	2.850000	0.35135	-0.153000	0.12021	1.000000	0.71638	1.000000	0.68203	0.213000	0.22268	0.0715:0.2712:0.6573:0.0	9.610	0.38819	945	0.12563	ARF7 effector protein, C-terminal;ARF7 effector protein, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.016181	0.027027	0.000000	0.030864	0.000000	0.000000	0.007246	0.000000	0.08333	707.23	33	chr5	116058794	.	G	C	707.23	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.212;DP=324;ExcessHet=0;FS=2.068;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.4;ReadPosRankSum=-0.815;SOR=1.051	GT:AD:DP:GQ:PL	0/1:38,30:68:99:717,0,937	5	0	1	1
chr5	119634040	119634040	C	T	exonic	FAM170A	.	nonsynonymous SNV	FAM170A:NM_001163991:exon2:c.C151T:p.R51C,FAM170A:NM_001367956:exon3:c.C292T:p.R98C,FAM170A:NM_182761:exon3:c.C292T:p.R98C	.	.	.	.	.	.	.	.	.	.	.	3435545	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.020	0.00307265431658	8.2e-05	.	7.454e-05	0	0	0	0	4.497e-05	0	0.0004	6.47e-05	10	154602	rs373211031	8.14e-05	8.209e-05	7.759e-05	8.525e-05	0.0004	6.934e-05	6.486e-05	0.0003	0.0002	0	6.708e-05	0	2.519e-05	0	0	6.924e-05	8.279e-05	0.0004	8.543e-05	9.193e-05	6.423e-05	0.0001	0.0002	4.957e-05	3.963e-05	5.841e-05	4.239e-05	7.239e-05	0	0	0	0	0	0	0.0001	0.0005	0.0002	0.273	0.18371	T	0.071	0.43721	T	0.002	0.11197	B	0.002	0.08700	B	0.009541	0.01245	N	2.326850	1	0.08975	N	-1.245	0.00777	N	1.56	0.29602	T	-0.03	0.07444	N	0.096	0.12055	-1.0636	0.10878	T	0.025	0.10643	T	9	0.018721819	0.00410	T	0.003073	0.06636	T	0.020	0.03691	.	.	0.0297737177859	0.01360	0.07039802393367231	0.06976	.	.	0.191972732544	0.00262	T	8.57E-4	0.02494	T	-0.495619	0.00605	T	-0.627732	0.10587	T	0.0232442755558855	0.01052	T	0.520648	0.17009	T	0.049710236	0.08869	0.025333384	0.00574	0.049710236	0.08868	0.025333384	0.00574	-3.525	0.19880	T	.	.	0.069	0.02993	B	.;.;.;.	.;.;.;.	0.859559	0.12321	8.859	0.76624794288112474	0.11544	0.01671	0.05346	N	AEFBI	0.049451	0.08544	N	-1.76470080321122	0.00637	0.02748926	-1.76189883004033	0.00889	0.03974318	0.00169575553096973	0.08790	0.487112	0.14033	0	0.573078	0.20572	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.35	-3.41	0.04535	0.051000	0.14025	-1.549000	0.05193	-1.544000	0.00972	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1191:0.422:0.2347:0.2241	2.141	0.03544	949	0.11373	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.07143	425.44	34	chr5	119634040	.	C	T	425.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.763;DP=270;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.68;ReadPosRankSum=-0.082;SOR=0.73	GT:AD:DP:GQ:PL	0/1:30,19:49:99:436,0,727	6	0	1	0
chr5	121852630	121852630	G	T	exonic	FTMT	.	nonsynonymous SNV	FTMT:NM_177478:exon1:c.G667T:p.A223S	.	432	1086	4	0	0	4	0.00183824	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	.	0.0012	0.00299521	0.0043	0.0002	0.0010	0	0.0178	0.0024	0.0033	0.0138	0.0038615	597	154602	rs149286328	0.0036	0.0036	0.0033	0.0039	0.0146	0.0035	0.0034	0.0139	0.0136	0.0005	0.0011	3.826e-05	0	0.0141	0.0009	0.0026	0.0031	0.0146	0.0035	0.0035	0.0029	0.0042	0.0108	0.0033	0.0032	0.0085	0.0076	0.0002	0.1022	0.0041	0	0.0002	0.0152	0	0.0022	0.0038	0.0108	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.011703	0.29430	N	0.297217	1	0.08975	N	0.075	0.08292	N	-0.3	0.67874	T	0.99	0.01428	N	0.029	0.00666	-0.9617	0.38858	T	0.061	0.25492	T	10	0.0066440403	0.00151	T	.	.	.	0.070	0.20419	.	.	0.387529464389	0.38369	0.1105668507569373	0.10985	0.26005264081	0.28572	0.344538271427	0.17115	T	0.208673	0.56867	T	-0.604202	0.00137	T	-0.628994	0.10490	T	0.0140182735908742	0.00271	T	0.265273	0.04325	T	0.10085439	0.23818	0.07560148	0.16662	0.10085439	0.23818	0.07560148	0.16661	-1.353	0.01489	T	.	.	0.075	0.05404	B	.	.	0.433831	0.08043	4.763	0.11094201561964319	0.00157	0.10855	0.16239	N	AEFI	0.034168	0.04186	N	-1.57839802993674	0.01376	0.0599648	-1.47902350540383	0.02517	0.1158822	1.36554141719558E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.68	-1.23	0.08977	2.216000	0.42511	0.073000	0.14287	-0.873000	0.02525	0.997000	0.40164	0.000000	0.08366	0.053000	0.15439	0.1098:0.0:0.2013:0.6889	7.162	0.24843	904	0.23766	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.000000	0.001359	0.005848	0.000000	0.000000	0.000000	0.000000	0.07143	276.46	33	chr5	121852630	.	G	T	276.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.487;DP=197;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.57;ReadPosRankSum=-1.621;SOR=0.593	GT:AD:DP:GQ:PL	0/1:10,12:22:99:287,0,273	6	0	1	0
chr5	132579330	132579330	G	A	exonic	RAD50	.	nonsynonymous SNV	RAD50:NM_005732:exon4:c.G379A:p.V127I	Nijmegen breakage syndrome-like disorder	3	1500	18	1	0	20	0.00662252	.	.	.	133480	not_specified|not_provided|Nijmegen_breakage_syndrome-like_disorder|Hereditary_cancer-predisposing_syndrome	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0013118,MedGen:C2751318,OMIM:613078,Orphanet:240760|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.142	0.0138887376583	0.0018	0.000399361	0.0017	0.0003	0.0009	0.0001	0	0.0027	0.0022	0.0004	0.0015394	238	154602	rs28903086	0.0013	0.0013	0.0013	0.0014	0.0075	0.0013	0.0013	0.0057	0.0051	0.0002	0.0012	0.0098	2.521e-05	0.0001	0.0075	0.0013	0.0021	0.0006	0.0015	0.0015	0.0012	0.0017	0.0040	0.0013	0.0012	0.0032	0.0029	0.0002	0	0.0040	0.0107	0	0	0.0136	0.0016	0.0014	0.0004	0.251	0.37750	T	0.198	0.43159	T	0.999	0.77913	D	0.978	0.74104	D	0.000008	0.62929	D	0.107793	0.999927	0.81001	D	1.785	0.46417	L	1.97	0.22067	T	-0.85	0.23156	N	0.273	0.30914	-1.1075	0.03293	T	0.116	0.41008	T	10	0.009372592	0.00212	T	0.013889	0.33629	T	0.142	0.37995	.	.	0.603090222555	0.59992	0.3234470342466072	0.32257	.	.	0.512988805771	0.40641	T	0.022545	0.29965	T	-0.452504	0.01092	T	-0.429243	0.30020	T	0.0351086830079902	0.02827	T	0.89781	0.78426	D	0.2301101	0.45760	0.21668446	0.46305	0.2301101	0.45760	0.21668446	0.46304	-5.559	0.42416	T	0.3448653139655321	0.44242	0.093	0.14015	B	.;.;.;.;.;.	.;.;.;.;.;.	3.165794	0.42909	21.6	0.99752672536328513	0.84382	0.96551	0.69706	D	AEFBI	0.455965	0.50803	N	0.656899531823253	0.76816	6.556754	0.676887313599939	0.80628	7.341078	0.62270337508391	0.21899	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.69	5.69	0.88346	4.896000	0.62911	4.411000	0.43281	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	18.801	0.91984	816	0.41767	.;.;.;.;Rad50/SbcC-type AAA domain;Rad50/SbcC-type AAA domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.005035	0.000000	0.005435	0.011696	0.000000	0.000000	0.003049	0.000000	0.07143	369.63	31	chr5	132579330	.	G	A	369.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.438;DP=195;ExcessHet=0;FS=1.824;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.4;ReadPosRankSum=0.179;SOR=0.252	GT:AD:DP:GQ:PL	0/1:9,15:24:99:380,0,233	6	0	1	0
chr5	132826007	132826007	G	T	exonic	SHROOM1	.	nonsynonymous SNV	SHROOM1:NM_133456:exon1:c.C134A:p.P45Q,SHROOM1:NM_001172700:exon4:c.C134A:p.P45Q	.	408	1090	24	0	0	24	0.0108893	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	.	0.0027	0.00299521	0.0125	0.0066	0.0489	0	0	0.0165	0.0183	0.0017	0.0035705	552	154602	rs143556262	0.0043	0.0044	0.0043	0.0044	0.0303	0.0042	0.0042	0.0266	0.0252	0.0028	0.0081	0.0195	3.022e-05	0.0002	0.0303	0.0042	0.0069	0.0010	0.0054	0.0054	0.0054	0.0054	0.0123	0.0051	0.0050	0.0109	0.0104	0.0032	0.0844	0.0123	0.0228	0.0002	9.413e-05	0.0170	0.0046	0.0128	0.0008	0.004	0.65419	D	0.038	0.52727	D	0.445	0.38813	B	0.086	0.40037	B	0.073608	0.21335	N	0.450054	0.997853	0.22475	N	1.24	0.30952	L	1.59	0.28836	T	-1.0	0.36189	N	0.15	0.15749	-1.0651	0.10526	T	0.049	0.21065	T	10	0.0021722615	0.00031	T	.	.	.	0.025	0.05312	.	.	0.390687800842	0.38684	0.2563370100434633	0.25547	1.85053627727	0.92283	0.62879884243	0.56974	T	0.015441	0.16816	T	-0.58936	0.00169	T	-0.607675	0.12174	T	0.0175188138830554	0.00487	T	0.555444	0.19458	T	0.07915242	0.18067	0.05722803	0.10366	0.07915242	0.18067	0.05722803	0.10366	-5.289	0.39913	T	.	.	0.085	0.17103	B	.;.;.;.;.	.;.;.;.;.	2.464583	0.31755	18.84	0.98180467203916133	0.38941	0.61743	0.31574	D	AEFDBCI	0.158046	0.28365	N	-0.499384681410579	0.22101	1.177747	-0.459099150949242	0.23290	1.269379	0.99997135325885	0.50053	0.685219	0.55550	0	0.748881	0.99253	0	0.674405	0.61402	0	0.699875	0.68795	0	.	.	4.18	2.15	0.26590	0.175000	0.16577	1.431000	0.26447	-0.148000	0.12190	0.002000	0.15269	0.930000	0.28522	0.032000	0.13371	0.0:0.0:0.5755:0.4245	8.450	0.32028	909	0.22467	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.026558	0.063830	0.030387	0.026471	0.000000	0.025862	0.015432	0.011538	0.07143	372.83	35	chr5	132826007	.	G	T	372.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.129;DP=218;ExcessHet=0;FS=3.012;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.65;ReadPosRankSum=-0.727;SOR=1.371	GT:AD:DP:GQ:PL	0/1:18,17:35:99:383,0,398	6	0	1	0
chr5	138420871	138420871	G	A	exonic	KDM3B	.	nonsynonymous SNV	KDM3B:NM_016604:exon15:c.G3881A:p.R1294Q	.	.	.	.	.	.	.	.	.	.	.	4155440	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.487	0.0264325175001	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1455870622	1.368e-06	1.368e-06	2.722e-06	0	2.236e-05	2.3e-07	9e-08	.	.	0	2.236e-05	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.54683	D	0.0	0.92824	D	0.989	0.62824	D	0.699	0.54128	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.74	0.80084	M	-0.63	0.72011	T	-3.05	0.62976	D	0.752	0.75101	0.295	0.87479	D	0.641	0.87469	D	10	0.6276253	0.68333	D	0.026433	0.49337	D	0.487	0.77528	0.074	0.00491	0.563628423525	0.56026	0.7022740770218915	0.70168	1.18456262577	0.80108	0.729091584682	0.71373	T	0.28036	0.65306	T	0.228727	0.76601	D	0.173639	0.81624	D	0.920145510317461	0.57918	D	0.972403	0.89999	D	0.47857893	0.65814	0.366773	0.62000	0.47857893	0.65815	0.366773	0.62000	-9.49	0.70797	D	.	.	0.870	0.80866	P	.;.	.;.	5.361681	0.89912	31	0.9994924627745696	0.99931	0.99307	0.94267	D	AEFGBI	0.889619	0.82387	D	0.849550823843918	0.89083	9.827872	0.847873323007769	0.92892	11.69509	0.999999999981405	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.63	5.63	0.86108	9.345000	0.96456	11.797000	0.96542	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	19.658	0.95849	396	0.82953	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1541.44	34	chr5	138420871	.	G	A	1541.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.436;DP=288;ExcessHet=0;FS=0.774;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.41;ReadPosRankSum=-1.111;SOR=0.577	GT:AD:DP:GQ:PL	0/1:37,63:100:99:1552,0,834	6	0	1	0
chr5	139322969	139322969	-	GGACAAGATCGAGGAACTTGATCAAGAAAACGAAGCAGCGTTGGAAAATGGAATTAA	splicing	MATR3	NM_001282278:exon14:c.1134+2->GGACAAGATCGAGGAACTTGATCAAGAAAACGAAGCAGCGTTGGAAAATGGAATTAA;NM_001194954:exon14:c.2148+2->GGACAAGATCGAGGAACTTGATCAAGAAAACGAAGCAGCGTTGGAAAATGGAATTAA;NM_199189:exon15:c.2148+2->GGACAAGATCGAGGAACTTGATCAAGAAAACGAAGCAGCGTTGGAAAATGGAATTAA;NM_018834:exon12:c.2148+2->GGACAAGATCGAGGAACTTGATCAAGAAAACGAAGCAGCGTTGGAAAATGGAATTAA;NM_001194956:exon11:c.1284+2->GGACAAGATCGAGGAACTTGATCAAGAAAACGAAGCAGCGTTGGAAAATGGAATTAA;NM_001194955:exon12:c.2148+2->GGACAAGATCGAGGAACTTGATCAAGAAAACGAAGCAGCGTTGGAAAATGGAATTAA	.	.	Amyotrophic lateral sclerosis 21, Autosomal dominant	6	1499	2	0	15	17	0.000666667	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.437e-05	2.394e-05	1.089e-05	1.788e-05	3.48e-05	9.23e-06	7.84e-06	9.24e-06	6.89e-06	0	0	0	0	0	0	1.439e-05	3.312e-05	3.48e-05	3.943e-05	0.0002	3.857e-05	4.032e-05	0.0002	1.716e-05	1.13e-05	1.973e-05	1.125e-05	0	0	0	0	0	9.439e-05	0	5.885e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	527.23	18	chr5	139322969	.	T	TGGACAAGATCGAGGAACTTGATCAAGAAAACGAAGCAGCGTTGGAAAATGGAATTAA	527.23	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.58;DP=179;ExcessHet=0;FS=1.69;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=19.53;ReadPosRankSum=-1.578;SOR=0.313	GT:AD:DP:GQ:PL	0/1:13,14:27:99:537,0,506	5	0	1	1
chr5	139887481	139887481	C	T	exonic	NRG2	.	nonsynonymous SNV	NRG2:NM_001184935:exon2:c.G731A:p.S244N,NRG2:NM_004883:exon2:c.G731A:p.S244N,NRG2:NM_013981:exon2:c.G731A:p.S244N,NRG2:NM_013982:exon2:c.G731A:p.S244N,NRG2:NM_013983:exon2:c.G731A:p.S244N	.	.	.	.	.	.	.	.	.	.	.	2325350	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.031	0.00739077046255	.	.	8.286e-06	0	0	0	0	1.505e-05	0	0	6.5e-06	1	154602	rs774596341	1.371e-06	1.369e-06	1.365e-06	1.378e-06	1.804e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.804e-06	0	0	6.59e-06	6.574e-06	0	1.35e-05	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.184	0.23360	T	0.164	0.31026	T	0.087	0.26037	B	0.062	0.30857	B	0.000522	0.43581	N	0.227934	0.755028	0.33972	D	0.135	0.08676	N	1.58	0.29085	T	-0.32	0.21003	N	0.423	0.46274	-1.0194	0.23910	T	0.045	0.19518	T	10	0.22371674	0.39157	T	0.007391	0.19603	T	0.031	0.07369	0.366	0.37361	0.498748557451	0.49510	0.4556412808571356	0.45482	0.884494878246	0.69920	0.694656133652	0.66374	T	0.195255	0.55127	T	-0.302609	0.08415	T	-0.672453	0.07451	T	0.361964405132886	0.27486	T	0.79652	0.44558	T	0.08836372	0.20609	0.102840796	0.24660	0.08836372	0.20609	0.102840796	0.24659	-7.518	0.70016	D	.	.	0.221	0.45409	B	.;.;.;.;.;.	.;.;.;.;.;.	3.573511	0.50344	22.9	0.99603636505572957	0.74338	0.69576	0.34242	D	AEFBI	0.254283	0.37363	N	-0.162749740398921	0.34693	1.983396	0.0478054099699094	0.41967	2.53021	0.600115135775481	0.21718	0.562547	0.31514	0	0.653731	0.59785	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.29	5.29	0.74430	2.879000	0.48220	5.991000	0.52331	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.9072:0.0:0.0928	10.020	0.41207	21	0.98493	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2143	406.97	64	chr5	139887481	.	C	T	406.97	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-3.088;DP=351;ExcessHet=1.1394;FS=365.426;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=1.93;ReadPosRankSum=0.151;SOR=7.978	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:40,15:55:99:0|1:139887481_C_T:175,0,1303:139887481	4	0	3	0
chr5	140346004	140346004	G	A	exonic	HBEGF	.	nonsynonymous SNV	HBEGF:NM_001945:exon2:c.C127T:p.P43S	.	2	1509	11	0	0	11	0.00363156	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.00613609748223	0.0022	0.00219649	0.0035	0.0008	0.0016	0.0001	0.0062	0.0039	0.0068	0.0054	0.003247	502	154602	rs139432818	0.0033	0.0033	0.0033	0.0034	0.0049	0.0032	0.0032	0.0045	0.0043	0.0006	0.0021	0.0029	0	0.0056	0.0024	0.0034	0.0032	0.0049	0.0027	0.0027	0.0024	0.0029	0.0043	0.0025	0.0024	0.0034	0.0033	0.0006	0	0.0021	0.0026	0	0.0046	0	0.0038	0.0043	0.0043	0.513	0.07425	T	0.621	0.07419	T	0.02	0.18235	B	0.02	0.19048	B	0.124377	0.18882	N	0.555420	0.99015	0.24208	N	1.955	0.52871	M	1.48	0.31731	T	1.0	0.01408	N	0.131	0.12627	-0.9862	0.33542	T	0.060	0.24945	T	10	0.0069981813	0.00159	T	0.006136	0.16052	T	0.046	0.12618	.	.	0.340432005269	0.33650	0.3912665283742663	0.39041	0.885821460284	0.69988	0.436285078526	0.30069	T	0.370469	0.73501	T	-0.534666	0.00360	T	-0.53942	0.18352	T	0.00313692911508436	0.00033	T	0.652235	0.26282	T	0.028416734	0.02176	0.055523414	0.09754	0.028416734	0.02176	0.055523414	0.09753	-3.219	0.12714	T	.	.	0.072	0.04238	B	.	.	2.037304	0.25894	16.93	0.93900237369905803	0.23930	0.75883	0.37178	D	ALL	0.228758	0.35238	N	-0.670440907339601	0.16867	0.8631453	-0.51019652624251	0.21876	1.185522	0.999999999951962	0.74766	0.652421	0.48094	0	0.296712	0.05252	1	0.64067	0.45733	0	0.56214	0.19341	0	.	.	5.33	3.53	0.39533	1.410000	0.34299	.	.	-0.104000	0.15758	1.000000	0.71638	1.000000	0.68203	0.910000	0.44547	0.1652:0.0:0.8348:0.0	11.258	0.48297	133	0.94666	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.003788	0.07143	167.49	37	chr5	140346004	.	G	A	167.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.955;DP=208;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=6.2;ReadPosRankSum=-0.638;SOR=0.446	GT:AD:DP:GQ:PL	0/1:19,8:27:99:178,0,467	6	0	1	0
chr5	140877285	140877285	G	T	exonic	PCDHA12	.	nonsynonymous SNV	PCDHA12:NM_018903:exon1:c.G1813T:p.A605S,PCDHA12:NM_031864:exon1:c.G1813T:p.A605S	.	417	1073	31	1	0	33	0.0151446	.	.	.	2825288	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.276	0.0197981711577	0.0036	0.00279553	0.0040	0.0006	0.0010	0.0001	0.0020	0.0054	0.0033	0.0055	0.0041073	635	154602	rs76220347	0.0047	0.0047	0.0045	0.0049	0.0073	0.0046	0.0046	0.0056	0.0049	0.0007	0.0018	0.0087	2.519e-05	0.0016	0.0073	0.0051	0.0043	0.0054	0.0036	0.0036	0.0038	0.0034	0.0057	0.0033	0.0032	0.0052	0.0051	0.0006	0	0.0035	0.0086	0	0.0019	0.0034	0.0057	0.0033	0.0041	0.028	0.46129	D	0.052	0.47581	T	1.0	0.90584	D	0.954	0.78396	D	.	.	.	.	1	0.81001	D	1.64	0.41913	L	1.18	0.37746	T	-2.72	0.57920	D	0.213	0.25989	-0.7210	0.59414	T	0.168	0.50794	T	9	0.012135804	0.00262	T	0.019798	0.42253	T	0.276	0.59253	.	.	0.734974895143	0.73260	0.2244262043726725	0.22357	.	.	0.780401825905	0.78988	T	0.077468	0.35662	T	-0.437357	0.01340	T	-0.39909	0.33490	T	0.0216165376161506	0.00866	T	0.855914	0.55285	D	0.23279963	0.46074	0.28168145	0.54151	0.23279963	0.46074	0.28168145	0.54150	-9.022	0.69146	D	.	.	0.160	0.35310	B	.;.	.;.	3.454221	0.48119	22.6	0.99504588519091897	0.68264	0.97990	0.78686	D	AEFDBI	0.708097	0.66262	D	0.558929894263973	0.70627	5.529476	0.493415732069027	0.67551	5.099412	0.999999998772093	0.74766	0.475244	0.09938	2	0.588015	0.36545	0	0.641878	0.46077	1	0.562822	0.20929	0	.	.	4.71	4.71	0.59010	3.147000	0.50335	.	.	0.590000	0.31872	0.998000	0.41325	0.003000	0.18671	0.787000	0.37188	0.0:0.0:1.0:0.0	17.27	0.86984	67	0.97183	.;Cadherin-like|Cadherin-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.009063	0.000000	0.010870	0.002924	0.000000	0.000000	0.015244	0.018939	0.07143	2265.44	44	chr5	140877285	.	G	T	2265.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.28;DP=387;ExcessHet=0;FS=1.917;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.57;ReadPosRankSum=0.333;SOR=0.872	GT:AD:DP:GQ:PL	0/1:84,83:167:99:2276,0,2062	6	0	1	0
chr5	140968970	140968970	C	G	exonic	PCDHAC2	.	nonsynonymous SNV	PCDHAC2:NM_018899:exon1:c.C2204G:p.T735S,PCDHAC2:NM_031883:exon1:c.C2204G:p.T735S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.00231886657829	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.813	0.03013	T	1.0	0.02535	T	0.005	0.12996	B	0.002	0.18489	B	0.000582	0.43095	D	0.000000	1	0.81001	D	-1.32	0.00691	N	0.88	0.46028	T	0.1	0.05810	N	0.098	0.12913	-1.0373	0.18140	T	0.039	0.16634	T	10	0.04493642	0.03507	T	0.002319	0.04479	T	0.085	0.24743	0.476	0.55342	0.134007934775	0.12933	0.4490506290154099	0.44823	0.115080692193	0.12980	.	.	.	0.051526	0.28904	T	-0.280705	0.10593	T	-0.64099	0.09596	T	0.0864245086318171	0.10788	T	0.565643	0.19997	T	0.061925393	0.12878	0.073422834	0.15953	0.061925393	0.12878	0.073422834	0.15953	-1.52	0.01982	T	.	.	0.069	0.05800	B	.;.	.;.	1.817237	0.23093	15.88	0.78107644073375893	0.12158	0.85737	0.44903	D	AEFBCI	0.324050	0.42606	N	-0.372024738486424	0.26470	1.444898	-0.0813978731327023	0.36160	2.100817	0.966621933477764	0.28918	0.625279	0.40028	0	0.573888	0.26702	0	0.687403	0.62504	0	0.586402	0.36253	0	.	.	5.66	5.66	0.87293	1.532000	0.35634	.	.	0.599000	0.40250	0.863000	0.30666	1.000000	0.68203	0.994000	0.71098	0.1282:0.6283:0.2435:0.0	10.199	0.42249	54	0.97570	Cadherin, cytoplasmic C-terminal domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	577.49	34	chr5	140968970	.	C	G	577.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.165;DP=246;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.83;ReadPosRankSum=-2.925;SOR=0.833	GT:AD:DP:GQ:PL	0/1:24,21:45:99:588,0,708	6	0	1	0
chr5	141201807	141201807	C	A	exonic	PCDHB11	.	nonsynonymous SNV	PCDHB11:NM_018931:exon1:c.C2033A:p.P678Q	.	168	1321	32	1	0	34	0.0127055	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	.	0.0027	0.00399361	0.0039	0.0004	0.0004	0.0001	0.0027	0.0040	0.0067	0.0097	0.0035381	547	154602	rs141800205	0.0040	0.0039	0.0036	0.0043	0.0102	0.0039	0.0038	0.0096	0.0094	0.0003	0.0016	0.0069	0	0.0020	0.0085	0.0038	0.0036	0.0102	0.0033	0.0033	0.0031	0.0036	0.0087	0.0031	0.0030	0.0066	0.0059	0.0005	0	0.0039	0.0078	0	0.0024	0.0102	0.0047	0.0014	0.0087	0.201	0.20306	T	0.207	0.35840	T	0.013	0.16609	B	0.02	0.19048	B	.	.	.	.	1	0.08975	N	1.02	0.25474	L	0.8	0.48769	T	-3.23	0.65056	D	0.087	0.11769	-0.9282	0.44400	T	0.088	0.34078	T	9	0.0062874258	0.00142	T	.	.	.	0.056	0.15993	.	.	0.424430313326	0.42057	0.21207624426873645	0.21123	0.218745738451	0.24414	0.432624101639	0.29567	T	0.027678	0.20215	T	-0.618637	0.00112	T	-0.652011	0.08814	T	0.00542685166688873	0.00059	T	0.467153	0.14032	T	0.035338838	0.04141	0.072137386	0.15528	0.035338838	0.04141	0.072137386	0.15528	-9.301	0.70254	D	.	.	0.078	0.08368	B	.;.	.;.	1.146609	0.15341	11.78	0.54837505654297913	0.05218	0.01440	0.04836	N	AEFDI	0.031168	0.03277	N	-1.00260200278716	0.08550	0.401287	-1.15715369112361	0.06640	0.3203102	0.00276586595352238	0.09691	0.490419	0.18000	1	0.573888	0.26702	0	0.667716	0.60424	0	0.613276	0.41899	0	.	.	2.77	-2.14	0.06725	-1.779000	0.01874	.	.	0.299000	0.18918	0.000000	0.06391	0.000000	0.08366	0.017000	0.10941	0.4176:0.2069:0.1464:0.229	0.535	0.00593	662	0.61715	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005495	0.000000	0.004076	0.004202	0.000000	0.000000	0.013072	0.007937	0.07143	829.53	43	chr5	141201807	.	C	A	829.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.213;DP=464;ExcessHet=0;FS=5.223;MLEAC=1;MLEAF=0.071;MQ=59.77;MQRankSum=-0.968;QD=13.38;ReadPosRankSum=-0.789;SOR=1.514	GT:AD:DP:GQ:PL	0/1:31,31:62:99:840,0,816	6	0	1	0
chr5	141303079	141303079	C	T	exonic	SLC25A2	.	nonsynonymous SNV	SLC25A2:NM_031947:exon1:c.G787A:p.V263I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.147	0.0182275345159	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.492	0.07944	T	0.363	0.16815	T	0.021	0.18474	B	0.039	0.23607	B	0.940851	0.07593	N	1.028430	0.999997	0.08975	N	0.5	0.13406	N	-1.23	0.78860	T	0.06	0.06253	N	0.045	0.01740	-0.9283	0.44386	T	0.215	0.57626	T	10	0.071314245	0.10496	T	0.018228	0.40224	T	0.147	0.38986	0.339	0.32979	0.359557344763	0.35564	0.08275398820863436	0.08210	0.147289003395	0.16616	0.28638151288	0.08398	T	0.161028	0.50511	T	-0.18769	0.22597	T	-0.50738	0.21586	T	0.0446509129349204	0.04539	T	0.0730927	0.00533	T	0.038403146	0.05108	0.028814076	0.01154	0.038403146	0.05108	0.028814076	0.01154	-4.133	0.25775	T	.	.	0.080	0.07745	B	.	.	1.381003	0.17922	13.45	0.53492033685486196	0.04950	0.27226	0.23218	N	AEFDBI	0.033857	0.04094	N	-0.96113578187942	0.09444	0.4469869	-0.958533915171557	0.10726	0.542049	0.0027045709993126	0.09647	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.79	-1.96	0.07113	0.290000	0.18731	.	.	-0.219000	0.08017	0.857000	0.30561	0.000000	0.08366	0.938000	0.47775	0.1892:0.2274:0.2747:0.3086	0.421	0.00425	508	0.75398	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	2953.65	85	chr5	141303079	.	C	T	2953.65	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-5.028;DP=946;ExcessHet=6.1542;FS=234.538;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=4.09;ReadPosRankSum=1.62;SOR=10.441	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:64,19:83:99:0|1:141303079_C_T:101,0,2195:141303079	4	0	1	2
chr5	141303081	141303081	A	G	exonic	SLC25A2	.	nonsynonymous SNV	SLC25A2:NM_031947:exon1:c.T785C:p.I262T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.304	0.0473896448522	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.057e-05	0.0052	9.083e-05	7.061e-05	9.408e-05	6.666e-05	6.17e-05	7.637e-05	7.056e-05	7.663e-05	2.352e-05	9.167e-05	0	0	0	9.408e-05	0.0001	3.753e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.012	0.63918	D	0.031	0.20130	B	0.072	0.28043	B	0.002026	0.37411	N	0.228449	0.664955	0.33087	D	2.495	0.72670	M	-1.43	0.80730	T	-3.37	0.66665	D	0.15	0.15328	-0.2969	0.75071	T	0.436	0.77580	T	10	0.32646608	0.49943	T	0.04739	0.62897	D	0.304	0.62510	0.714	0.84962	0.796736975761	0.79484	0.3777484127299112	0.37689	0.256540601776	0.28227	0.559880197048	0.47250	T	0.479583	0.80893	T	-0.0449841	0.45207	T	-0.302393	0.44473	T	0.91609662771225	0.57338	D	0.873613	0.58243	D	0.3416271	0.56408	0.3380717	0.59590	0.3416271	0.56408	0.3380717	0.59589	-5.782	0.44417	T	.	.	0.170	0.37388	B	.	.	3.362138	0.46425	22.3	0.97252123840185223	0.33047	0.90378	0.51506	D	AEFDBI	0.134760	0.25488	N	-0.253584900046592	0.30961	1.73137	-0.254588989580657	0.29613	1.660522	0.0034441891907943	0.10119	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.79	1.42	0.21524	2.856000	0.48040	.	.	0.751000	0.87719	0.966000	0.33990	0.265000	0.24010	0.967000	0.53440	0.789:0.0:0.211:0.0	6.656	0.22177	508	0.75398	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	4033.26	85	chr5	141303081	.	A	G	4033.26	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-2.252;DP=994;ExcessHet=11.5949;FS=239.513;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.32;ReadPosRankSum=1.4;SOR=9.712	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:64,19:83:99:0|1:141303079_C_T:101,0,2195:141303079	0	0	6	1
chr5	141370804	141370804	T	C	exonic	PCDHGB3	.	nonsynonymous SNV	PCDHGB3:NM_018924:exon1:c.T410C:p.I137T,PCDHGB3:NM_032097:exon1:c.T410C:p.I137T	.	432	1089	1	0	0	1	0.000458926	.	.	.	2366227	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	0.00765361494679	.	.	0.0002	0	8.639e-05	0	0	7.495e-05	0	0.0008	0.0001294	20	154602	rs565720476	0.0001	0.0001	0.0001	0.0002	0.0028	0.0001	0.0001	0.0017	0.0014	0	2.236e-05	3.826e-05	0	0	0.0028	7.825e-05	0.0002	0.0010	9.848e-05	9.843e-05	0.0001	9.398e-05	0.0010	6.002e-05	4.876e-05	0.0004	0.0003	2.405e-05	0	0	0	0.0002	0	0.0068	5.881e-05	0.0009	0.0010	.	.	.	0.176	0.29843	T	0.006	0.13644	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	-0.375	0.03072	N	2.14	0.19450	T	.	.	.	0.032	0.00825	.	.	.	.	.	.	.	0.016734302	0.00354	T	0.007654	0.20299	T	.	.	.	.	0.732716374277	0.73033	0.03766416484611296	0.03712	0.303403482405	0.32658	.	.	.	5.26E-4	0.00201	T	-0.636325	0.00088	T	-0.784221	0.02328	T	.	.	.	0.127787	0.01001	T	0.15808389	0.35584	0.1322978	0.31750	0.15808389	0.35584	0.1322978	0.31749	-3.532	0.18306	T	.	.	0.091	0.12891	B	.;.	.;.	0.018495	0.04412	1.150	0.84131079349191706	0.15114	0.11774	0.16853	N	AEFBI	0.155876	0.28114	N	.	.	.	.	.	.	0.930867298815077	0.27025	0.455138	0.09556	0	0.541556	0.11502	0	0.576033	0.28219	0	0.56751	0.32155	0	.	.	5.05	-0.217	0.12502	-0.318000	0.08091	.	.	-0.121000	0.13915	0.000000	0.06391	0.000000	0.08366	0.286000	0.24163	0.1601:0.3816:0.165:0.2932	1.605	0.02520	650	0.62973	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.004076	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	1499.44	35	chr5	141370804	.	T	C	1499.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.681;DP=321;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.45;ReadPosRankSum=0.502;SOR=0.676	GT:AD:DP:GQ:PL	0/1:68,63:131:99:1510,0,1617	6	0	1	0
chr5	141400463	141400463	A	G	exonic	PCDHGB5	.	nonsynonymous SNV	PCDHGB5:NM_018925:exon1:c.A2336G:p.D779G,PCDHGB5:NM_032099:exon1:c.A2336G:p.D779G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.065e-06	5.274e-05	1.371e-06	2.765e-06	2.718e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.718e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.44302	T	0.009	0.15093	B	0.029	0.21540	B	.	.	.	.	1	0.81001	D	1.51	0.38214	L	.	.	.	.	.	.	0.241	0.34659	.	.	.	.	.	.	.	0.20647642	0.36910	T	.	.	.	.	.	.	.	0.567858160113	0.56450	0.27775437007942005	0.27688	.	.	.	.	.	0.07356	0.34727	T	0.118978	0.66270	D	-0.0668731	0.65849	T	.	.	.	0.475152	0.14192	T	0.18996084	0.40560	0.40470845	0.64891	0.18996084	0.40560	0.40470845	0.64891	-4.16	0.26766	T	.	.	0.089	0.12323	B	.;.	.;.	3.615017	0.51130	23.0	0.70790902653605781	0.09412	0.84947	0.44044	D	AEFDBHCI	.	.	.	.	.	.	.	.	.	0.999600704005591	0.40866	0.090766	0.02384	0	0.097471	0.02872	0	0.129117	0.03641	0	0.023427	0.00073	3	0.343073	0.36021	5.25	5.25	0.73169	2.964000	0.48885	.	.	0.751000	0.87719	1.000000	0.71638	0.999000	0.35428	0.831000	0.39176	0.9146:0.0:0.0854:0.0	9.287	0.36925	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3571	684.11	39	chr5	141400463	.	A	G	684.11	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-6.424;DP=1058;ExcessHet=4.7409;FS=235.068;MLEAC=5;MLEAF=0.357;MQ=59.99;MQRankSum=0;QD=0.72;ReadPosRankSum=1.47;SOR=9.773	GT:AD:DP:GQ:PL	0/1:77,27:104:45:45,0,1341	2	0	5	0
chr5	141421774	141421774	C	G	exonic	PCDHGA11	.	nonsynonymous SNV	PCDHGA11:NM_018914:exon1:c.C547G:p.L183V,PCDHGA11:NM_032091:exon1:c.C547G:p.L183V,PCDHGA11:NM_032092:exon1:c.C547G:p.L183V	.	376	1145	1	0	0	1	0.000436491	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.00288905876437	.	.	1.667e-05	0	0	0	0.0003	0	0	0	1.29e-05	2	154602	rs767599830	1.368e-05	1.368e-05	1.634e-05	1.1e-05	0.0002	8.94e-06	7.26e-06	4.55e-06	3.32e-06	0	0	0	0	0.0001	0.0002	8.994e-06	4.969e-05	0	4.6e-05	4.597e-05	3.854e-05	5.38e-05	2.94e-05	2.109e-05	1.527e-05	4.88e-06	1.83e-06	0	0	0	0	0	0.0005	0	2.94e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	0.001	0.09854	B	0.001	0.06944	B	0.023076	0.26512	N	0.000000	0.976936	0.25344	N	-1.725	0.00339	N	2.09	0.20122	T	2.61	0.00237	N	0.022	0.01274	-0.9353	0.43349	T	0.010	0.03673	T	10	0.014837861	0.00312	T	0.002889	0.06104	T	0.014	0.01968	0.278	0.23164	0.173771789658	0.16945	0.03258396137742624	0.03206	0.38733264475	0.40012	.	.	.	6.24E-4	0.00264	T	-0.42332	0.01629	T	-0.83036	0.01256	T	0.0425918017309211	0.04163	T	0.0574942	0.00511	T	0.028543582	0.02207	0.043120883	0.05293	0.028543582	0.02206	0.043120883	0.05293	-0.299	0.00499	T	.	.	0.056	0.01600	B	.;.;.	.;.;.	-0.481119	0.01929	0.163	0.62949250673038493	0.07095	0.01332	0.04590	N	AEFDBCI	0.050193	0.08750	N	-1.53674306842345	0.01613	0.07053437	-1.3425408546009	0.03894	0.1826039	0.999967051128616	0.48965	0.608746	0.35421	0	0.627608	0.54475	0	0.64067	0.45733	0	0.604282	0.37693	0	.	.	6.03	2.24	0.27264	-0.789000	0.04714	.	.	-0.792000	0.03237	0.000000	0.06391	0.000000	0.08366	0.122000	0.19250	0.1929:0.1075:0.6995:0.0	9.671	0.39177	819	0.41190	.;Cadherin-like;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	234.63	35	chr5	141421774	.	C	G	234.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.62;DP=209;ExcessHet=0;FS=8.346;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=6.7;ReadPosRankSum=-0.213;SOR=1.723	GT:AD:DP:GQ:PL	0/1:24,11:35:99:245,0,547	6	0	1	0
chr5	150649089	150649089	C	T	exonic	SYNPO	.	nonsynonymous SNV	SYNPO:NM_001109974:exon2:c.C814T:p.P272S,SYNPO:NM_007286:exon2:c.C814T:p.P272S,SYNPO:NM_001166208:exon3:c.C1546T:p.P516S,SYNPO:NM_001166209:exon3:c.C1546T:p.P516S	.	423	1097	2	0	0	2	0.000910747	.	.	.	439125	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.132	.	0.0048	0.00119808	0.0048	0.0012	0.0012	0	0.0105	0.0072	0.0045	6.072e-05	0.0049805	770	154602	rs146345840	0.0068	0.0068	0.0070	0.0065	0.0081	0.0067	0.0066	0.0079	0.0079	0.0010	0.0015	0.0001	0	0.0094	0.0010	0.0081	0.0052	0.0001	0.0051	0.0051	0.0048	0.0054	0.0079	0.0048	0.0047	0.0073	0.0071	0.0014	0.0011	0.0022	0	0	0.0124	0.0034	0.0079	0.0052	0	0.088	0.35537	T	0.266	0.22627	T	0.009	0.17573	B	0.008	0.16012	B	0.430543	0.12753	N	0.700955	1	0.08975	N	1.745	0.45235	L	1.5	0.31205	T	-1.75	0.43717	N	0.08	0.20129	-1.0237	0.22508	T	0.026	0.11220	T	10	0.0043495297	0.00088	T	.	.	.	0.132	0.35948	.	.	0.295226631146	0.29124	0.3095748377641315	0.30870	0.364366255787	0.38050	0.259144365788	0.04789	T	0.200489	0.55809	T	-0.575031	0.00207	T	-0.587092	0.13918	T	0.00543720824055088	0.00059	T	0.69643	0.30590	T	0.032841656	0.03386	0.04405414	0.05620	0.032841656	0.03385	0.04405414	0.05620	-2.728	0.07541	T	.	.	0.060	0.01986	B	.;.;.;.	.;.;.;.	-0.455906	0.02013	0.179	0.78201145300449315	0.12199	0.06490	0.12500	N	AEFDBHCI	.	.	.	-1.05903440081718	0.07411	0.3442097	-1.11177789294488	0.07474	0.3636965	0.999995382486348	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.576033	0.28219	0	0.714379	0.83352	0	.	.	5.19	-1.73	0.07646	-0.917000	0.04134	-1.731000	0.04830	0.530000	0.24713	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.2633:0.2704:0.1986:0.2677	0.133	0.00070	835	0.38313	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	312.83	23	chr5	150649089	.	C	T	312.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.581;DP=196;ExcessHet=0;FS=1.623;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.51;ReadPosRankSum=0.027;SOR=0.339	GT:AD:DP:GQ:PL	0/1:12,13:25:99:323,0,342	6	0	1	0
chr5	157052557	157052557	C	0	exonic	HAVCR1	.	.	.	.	1	2	91	30	102	253	0.974194	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	40550.0	325	chr5	157052557	.	C	*	40550.0	.	AC=9;AF=0.643;AN=14;BaseQRankSum=0.603;DP=3008;ExcessHet=0;FS=0;MLEAC=9;MLEAF=0.643;MQ=60;MQRankSum=0;QD=15.24;ReadPosRankSum=-0.37;SOR=0.722	GT:AD:DP:GQ:PL	1/1:0,235:235:99:10506,713,0	2	4	1	0
chr5	160406475	160406475	T	C	exonic	SLU7	.	nonsynonymous SNV	SLU7:NM_001364517:exon12:c.A1325G:p.N442S,SLU7:NM_001364518:exon12:c.A1280G:p.N427S,SLU7:NM_001364522:exon12:c.A1310G:p.N437S,SLU7:NM_006425:exon12:c.A1280G:p.N427S,SLU7:NM_001364520:exon13:c.A1280G:p.N427S,SLU7:NM_001364521:exon13:c.A1280G:p.N427S,SLU7:NM_001364523:exon13:c.A1310G:p.N437S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.597	0.100851578333	.	0.000199681	8.39e-06	0	0	0.0001	0	0	0	0	1.29e-05	2	154602	rs201427710	1.373e-05	1.368e-05	1.23e-05	1.518e-05	0.0003	8.97e-06	7.29e-06	0.0002	0.0001	0	0	0	0.0003	0	0	2.702e-06	0	7.02e-05	1.314e-05	1.313e-05	1.285e-05	1.344e-05	0.0004	2.18e-06	8.2e-07	6.825e-05	2.856e-05	0	0	0	0	0.0004	0	0	0	0	0	0.003	0.68238	D	0.005	0.72224	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.145	0.88303	M	0.73	0.50721	T	-4.51	0.78222	D	0.943	0.95021	-0.1212	0.79606	T	0.383	0.73951	T	10	0.89598584	0.88951	D	0.100852	0.77338	D	0.597	0.84019	.	.	0.839406912922	0.83787	0.7981235478272021	0.79765	0.557901603779	0.52390	0.685097932816	0.65002	T	0.40734	0.76298	T	-0.178443	0.23967	T	-0.288592	0.45920	T	0.7935973534213	0.45925	D	0.958404	0.84340	D	0.4711548	0.65361	0.48200816	0.70006	0.4711548	0.65362	0.48200816	0.70007	-8.899	0.67045	D	.	.	0.277	0.51068	B	.	.	4.429632	0.68686	25.3	0.99901227489553301	0.97275	0.99001	0.89785	D	AEFBI	0.910667	0.86887	D	0.92635892091466	0.92989	11.75261	0.88741657988039	0.95001	13.22388	0.999999999634456	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.07	6.07	0.98675	7.597000	0.81989	7.856000	0.71202	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.0:1.0	16.641	0.84955	928	0.17405	Pre-mRNA-splicing factor SLU7 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	489.63	34	chr5	160406475	.	T	C	489.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.26;DP=212;ExcessHet=0;FS=1.303;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.89;ReadPosRankSum=1.29;SOR=1.115	GT:AD:DP:GQ:PL	0/1:18,20:38:99:500,0,389	6	0	1	0
chr5	172339779	172339779	G	T	exonic	SH3PXD2B	.	nonsynonymous SNV	SH3PXD2B:NM_001017995:exon13:c.C1326A:p.H442Q	Frank-ter Haar syndrome, Autosomal recessive	0	1517	5	0	0	5	0.00164528	.	.	.	296917	Frank-Ter_Haar_syndrome	MONDO:MONDO:0009579,MedGen:C1855305,OMIM:249420,Orphanet:1266,Orphanet:137834	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.006	0.0116670639285	.	.	.	.	.	.	.	.	.	.	.	.	.	rs201324424	7.53e-06	7.524e-06	5.447e-06	9.635e-06	2.521e-05	4.04e-06	2.95e-06	3.85e-06	1.44e-06	0	0	0	2.521e-05	0	0	5.4e-06	3.314e-05	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.42783	D	0.318	0.19246	T	0.035	0.20614	B	0.053	0.25678	B	0.891699	0.08683	N	0.956490	1	0.81001	D	0.55	0.14455	N	1.61	0.28391	T	-0.8	0.22078	N	0.056	0.02759	-0.9985	0.30339	T	0.037	0.16116	T	9	0.027749091	0.00916	T	0.011667	0.29526	T	0.006	0.00375	0.282	0.23801	0.0297737177859	0.01360	0.20708658535164598	0.20624	0.139241090205	0.15693	0.249575793743	0.03723	T	0.040722	0.25622	T	-0.418526	0.01748	T	-0.742106	0.03802	T	0.0537000739000651	0.06139	T	0.70393	0.31399	T	0.06076337	0.12507	0.0773951	0.17236	0.06076337	0.12506	0.0773951	0.17236	-1.958	0.03026	T	0.07106111016781802	0.02796	0.092	0.13503	B	.	.	-0.755690	0.01197	0.059	0.58823947037565294	0.06081	0.17227	0.19745	N	AEFDBI	0.156087	0.28139	N	-1.4490794859507	0.02224	0.09797543	-1.54138107084778	0.02036	0.09305622	0.979892986676635	0.30076	0.67177	0.52595	0	0.588015	0.36545	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	5.82	-8.11	0.00953	-1.787000	0.01861	-4.159000	0.02309	-0.103000	0.15852	0.000000	0.06391	0.000000	0.08366	0.645000	0.32557	0.5956:0.0:0.228:0.1764	8.522	0.32445	895	0.25842	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	501.44	37	chr5	172339779	.	G	T	501.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.47;DP=226;ExcessHet=0;FS=1.192;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.4;ReadPosRankSum=-1.156;SOR=0.973	GT:AD:DP:GQ:PL	0/1:24,20:44:99:512,0,581	6	0	1	0
chr5	173090987	173090987	G	A	exonic	CREBRF	.	nonsynonymous SNV	CREBRF:NM_001168393:exon4:c.G808A:p.V270M,CREBRF:NM_001168394:exon4:c.G808A:p.V270M,CREBRF:NM_153607:exon4:c.G808A:p.V270M	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.0106358085425	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.094e-05	1.094e-05	1.089e-05	1.1e-05	1.439e-05	6.48e-06	5.24e-06	8.52e-06	6.89e-06	0	0	0	0	0	0	1.439e-05	0	0	6.571e-06	6.566e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.002	0.72154	D	0.087	0.40747	T	0.001	0.11197	B	0.004	0.10090	B	0.016272	0.28022	N	0.397201	0.999894	0.19781	N	0.895	0.22405	L	0.7	0.51474	T	-1.44	0.35399	N	0.389	0.43029	-1.0106	0.26729	T	0.082	0.32411	T	10	0.16748384	0.31246	T	0.010636	0.27409	T	0.058	0.16647	0.623	0.75803	0.216943180021	0.21308	0.2548346590386887	0.25397	0.487470984321	0.47571	0.546388626099	0.45347	T	0.03902	0.25043	T	-0.147642	0.28681	T	-0.449854	0.27713	T	0.559203565120697	0.34825	D	0.887511	0.61533	D	0.045420047	0.07431	0.07956457	0.17924	0.045420047	0.07431	0.07956457	0.17923	-4.698	0.33380	T	.	.	0.089	0.20972	B	.;.;.	.;.;.	3.055184	0.41009	21.3	0.99778069906176314	0.86519	0.84578	0.43661	D	AEFDGBI	0.210586	0.33646	N	-0.422541491857705	0.24681	1.334388	-0.333013480854695	0.27040	1.497653	0.999437704869341	0.39683	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.39	3.56	0.39892	2.901000	0.48393	5.939000	0.51448	0.676000	0.76740	0.998000	0.41325	1.000000	0.68203	0.946000	0.48989	0.0729:0.1367:0.6488:0.1416	5.893	0.18167	961	0.08552	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	472.44	33	chr5	173090987	.	G	A	472.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.213;DP=227;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.74;ReadPosRankSum=-2.3;SOR=0.573	GT:AD:DP:GQ:PL	0/1:24,20:44:99:483,0,608	6	0	1	0
chr5	178149816	178149816	G	C	exonic	NHP2	.	nonsynonymous SNV	NHP2:NM_001034833:exon3:c.C253G:p.P85A,NHP2:NM_017838:exon4:c.C359G:p.S120C	Dyskeratosis congenita, autosomal recessive 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.235	0.0324217931992	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.40068	D	0.004	0.74150	D	0.983	0.60381	D	0.823	0.59197	P	0.000002	0.62929	D	0.103877	0.868066	0.81001	D	.	.	.	0.35	0.58029	T	-1.56	0.37759	N	0.811	0.80669	-0.3362	0.73953	T	0.290	0.66201	T	9	0.7681256	0.76866	D	0.032422	0.54249	D	0.369	0.68844	0.487	0.57098	0.774303064417	0.77222	0.5758495358045932	0.57513	0.477938957657	0.46890	0.689032554626	0.65567	T	0.157353	0.49991	T	0.00928723	0.52927	T	-0.224436	0.52309	T	0.989259362220764	0.79502	D	0.89671	0.63922	D	0.44775474	0.63899	0.34156662	0.59894	0.44775474	0.63900	0.34156662	0.59894	-7.605	0.58346	D	.	.	0.627	0.69991	P	.	.	4.273131	0.65030	24.8	0.98937248787920129	0.48864	0.98514	0.83591	D	AEFBHCI	0.941082	0.94389	D	0.754531245538184	0.83201	7.955372	0.772388842810199	0.87816	9.355006	1.0	0.98316	0.78354	0.99714	0	0.696144	0.67643	0	0.827368	0.99476	0	0.711	0.71501	0	.	.	5.28	5.28	0.74118	9.900000	0.98620	9.922000	0.82512	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	16.417	0.83583	929	0.16858	Ribosomal protein L7Ae/L30e/S12e/Gadd45	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	319.44	35	chr5	178149816	.	G	C	319.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.407;DP=231;ExcessHet=0;FS=1.13;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=6.39;ReadPosRankSum=2.4;SOR=0.484	GT:AD:DP:GQ:PL	0/1:32,18:50:99:330,0,830	6	0	1	0
chr5	179841995	179841995	C	T	exonic	MRNIP	.	nonsynonymous SNV	MRNIP:NM_001017987:exon3:c.G196A:p.E66K,MRNIP:NM_016175:exon5:c.G361A:p.E121K	.	424	1085	13	0	0	13	0.00595511	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.00248228046425	0.0019	0.00199681	0.0018	0.0002	0.0038	0	0.0006	0.0023	0.0022	0.0008	0.0017723	274	154602	rs141029325	0.0021	0.0021	0.0020	0.0021	0.0046	0.0020	0.0020	0.0041	0.0039	0.0004	0.0046	0.0027	0	0.0005	0.0029	0.0022	0.0027	0.0006	0.0019	0.0019	0.0019	0.0019	0.0047	0.0017	0.0017	0.0038	0.0035	0.0004	0	0.0047	0.0023	0	9.414e-05	0.0136	0.0026	0.0061	0.0008	0.15	0.31532	T	0.092	0.45961	T	0.487	0.36886	P	0.189	0.36295	B	0.187126	0.16945	N	0.479035	0.999847	0.28504	N	.	.	.	2.01	0.21291	T	-2.13	0.49018	N	0.113	0.18649	-1.0636	0.10878	T	0.035	0.15247	T	10	0.0032820702	0.00056	T	0.002482	0.04925	T	0.025	0.05312	.	.	0.117506650769	0.11410	0.19206551277699987	0.19124	0.191156484107	0.21440	.	.	.	0.023633	0.19659	T	-0.510048	0.00502	T	-0.505295	0.21799	T	0.00986036162135999	0.00130	T	.	.	.	0.08022231	0.18369	0.07656596	0.16970	0.08022231	0.18369	0.07656596	0.16970	-4.801	0.51592	T	.	.	0.090	0.24363	B	.;.;.;.;.	.;.;.;.;.	1.478234	0.19034	14.05	0.9978321987986617	0.86955	0.13473	0.17875	N	AEFDBCI	0.059262	0.11180	N	-0.535915449413437	0.20928	1.106873	-0.593853277252853	0.19652	1.055378	0.993907142872642	0.33404	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.645665	0.59343	0	.	.	4.09	2.29	0.27658	0.805000	0.26772	0.665000	0.20538	0.599000	0.40250	0.001000	0.13787	0.000000	0.08366	0.596000	0.31288	0.0:0.7801:0.0:0.2199	7.023	0.24105	923	0.18507	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.004028	0.005051	0.004076	0.000000	0.000000	0.000000	0.012195	0.000000	0.07143	747.56	34	chr5	179841995	.	C	T	747.56	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.079;DP=254;ExcessHet=0;FS=3.208;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.99;ReadPosRankSum=-0.184;SOR=0.881	GT:AD:DP:GQ:PL	0/1:36,32:68:99:758,0,865	6	0	1	0
chr5	179871491	179871491	C	T	exonic	TBC1D9B	.	nonsynonymous SNV	TBC1D9B:NM_015043:exon15:c.G2455A:p.E819K,TBC1D9B:NM_198868:exon15:c.G2455A:p.E819K	.	427	1082	13	0	0	13	0.00597152	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.421	0.14749190218	0.0029	0.00179712	0.0025	0.0007	0.0041	0	0.0014	0.0033	0.0048	0.0011	0.0024126	373	154602	rs11545788	0.0030	0.0030	0.0029	0.0030	0.0046	0.0029	0.0029	0.0041	0.0039	0.0005	0.0046	0.0028	0	0.0011	0.0033	0.0033	0.0036	0.0007	0.0026	0.0026	0.0027	0.0024	0.0052	0.0024	0.0023	0.0043	0.0040	0.0006	0	0.0052	0.0032	0	0.0006	0.0136	0.0036	0.0062	0.0010	0.029	0.45756	D	0.023	0.57104	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.68	0.78455	M	0.24	0.59583	T	-2.44	0.53420	N	0.887	0.89912	0.000	0.82260	D	0.451	0.78491	T	10	0.024316132	0.00664	T	0.147492	0.82951	D	0.421	0.73005	.	.	0.823900764698	0.82224	0.8541258143191381	0.85375	0.601515710117	0.55188	0.641480147839	0.58774	T	0.188192	0.54204	T	-0.00788134	0.50561	T	0.216032	0.83975	D	0.0375358466095308	0.03249	T	.	.	.	0.42709103	0.62562	0.25782573	0.51505	0.42709103	0.62562	0.25782573	0.51504	-9.473	0.70691	D	.	.	0.462	0.64472	A	.;.	.;.	5.500369	0.91576	32	0.99936840120353554	0.99661	0.99305	0.94239	D	AEFDBI	0.764863	0.70153	D	0.818500538244239	0.87249	9.152933	0.767962292890352	0.87493	9.240847	0.999999999995591	0.74766	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.711	0.71501	0	.	.	5.22	5.22	0.72285	6.014000	0.70438	7.651000	0.63703	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.952000	0.50033	0.0:1.0:0.0:0.0	18.778	0.91885	917	0.20147	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.010101	0.004076	0.000000	0.000000	0.000000	0.012195	0.000000	0.08333	369.27	40	chr5	179871491	.	C	T	369.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.795;DP=214;ExcessHet=0;FS=1.317;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.86;ReadPosRankSum=-0.19;SOR=0.976	GT:AD:DP:GQ:PL	0/1:18,16:34:99:379,0,459	5	0	1	1
chr5	180611422	180611422	A	T	exonic	FLT4	.	nonsynonymous SNV	FLT4:NM_001354989:exon27:c.T3595A:p.F1199I,FLT4:NM_002020:exon27:c.T3595A:p.F1199I,FLT4:NM_182925:exon27:c.T3595A:p.F1199I	Hemangioma, capillary infantile, somatic;Lymphedema, hereditary, IA, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.410	0.151621123721	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	0.34621	T	0.335	0.18286	T	0.985	0.61118	D	0.758	0.56327	P	.	.	.	.	0.999999	0.58761	D	2.69	0.78713	M	-1.07	0.76948	T	-2.37	0.52289	N	0.45	0.49420	-0.5704	0.65999	T	0.302	0.67334	T	9	0.30857718	0.48352	T	0.151621	0.83315	D	0.410	0.72176	0.161	0.06507	0.714075337154	0.71157	0.3816046466554991	0.38075	0.605846916778	0.55455	0.527414381504	0.42671	T	0.31174	0.68360	T	0.14775	0.69056	D	-0.0255439	0.68664	D	0.842443346977234	0.49528	D	0.70423	0.31438	T	0.15744634	0.35477	0.15398079	0.36159	0.15744634	0.35476	0.15398079	0.36158	-3.515	0.16642	T	0.22981432521615835	0.31090	0.102	0.18122	B	.;.;.	.;.;.	4.016762	0.59292	24.1	0.98807894804291618	0.46574	0.98078	0.79411	D	AEFDGBHI	0.764859	0.70152	D	0.0932769309837809	0.46149	2.859814	0.150385535439532	0.47162	2.950638	0.999999999999976	0.74766	0.656854	0.48797	0	0.588066	0.40923	0	0.779548	0.98927	0	0.699908	0.69081	0	.	.	4.48	4.48	0.53973	5.534000	0.66879	7.840000	0.70487	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	0.328000	0.25156	1.0:0.0:0.0:0.0	12.802	0.56972	900	0.24599	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	220.27	38	chr5	180611422	.	A	T	220.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.083;DP=210;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.34;ReadPosRankSum=0.904;SOR=0.892	GT:AD:DP:GQ:PL	0/1:19,11:30:99:230,0,463	5	0	1	1
chr6	2675048	2675048	T	C	exonic	MYLK4	.	nonsynonymous SNV	MYLK4:NM_001012418:exon11:c.A1118G:p.Q373R,MYLK4:NM_001347872:exon11:c.A1286G:p.Q429R	.	438	1083	1	0	0	1	0.000461467	0.9997	0.958	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.0241290656542	0.0014	0.000199681	0.0007	9.656e-05	0.0003	0.0001	0.0005	0.0011	0.0022	0.0003	0.0007568	117	154602	rs35211631	0.0014	0.0014	0.0014	0.0014	0.0054	0.0014	0.0013	0.0039	0.0034	0.0001	0.0006	0.0001	2.519e-05	0.0001	0.0054	0.0017	0.0011	0.0004	0.0009	0.0009	0.0009	0.0008	0.0014	0.0007	0.0007	0.0011	0.0011	0.0003	0	0.0013	0	0	0	0.0034	0.0014	0.0014	0.0002	0.107	0.29554	T	0.207	0.26969	T	0.018	0.17786	B	0.007	0.12992	B	0.000557	0.43413	D	0.000000	0.677183	0.30311	N	0.425	0.12573	N	-0.24	0.66834	T	-1.49	0.36385	N	0.373	0.41459	-1.0529	0.13601	T	0.082	0.32353	T	10	0.020606875	0.00478	T	0.024129	0.47114	T	0.075	0.21907	.	.	0.362361684037	0.35846	0.49094922170657657	0.49014	0.177192372099	0.19938	0.396849125624	0.24631	T	0.111308	0.42670	T	-0.378673	0.03176	T	-0.357247	0.38371	T	0.0227195487568288	0.00991	T	0.368563	0.08641	T	0.101716965	0.24029	0.1502276	0.35438	0.101716965	0.24029	0.1502276	0.35437	-5.563	0.42453	T	.	.	0.069	0.04558	B	.;.	.;.	4.009017	0.59128	24.1	0.98708840548808185	0.45025	0.88529	0.48499	D	AEFDHCI	0.525812	0.54843	D	-0.198179512784358	0.33209	1.881556	-0.00696447675741855	0.39400	2.335484	0.993658225589343	0.33302	0.553676	0.25195	0	0.610034	0.51514	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.91	5.91	0.95240	3.473000	0.52886	5.105000	0.47467	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.652000	0.32748	0.0:0.0:0.1638:0.8362	10.396	0.43387	854	0.34840	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.001359	0.011696	0.000000	0.008621	0.000000	0.000000	0.07143	308.49	38	chr6	2675048	.	T	C	308.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.462;DP=214;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.34;ReadPosRankSum=-1.427;SOR=0.498	GT:AD:DP:GQ:PL	0/1:11,14:25:99:319,0,310	6	0	1	0
chr6	4069381	4069381	G	A	exonic	FAM217A	.	nonsynonymous SNV	FAM217A:NM_173563:exon7:c.C842T:p.T281I	.	433	1085	4	0	0	4	0.00183993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.152	.	0.0022	0.00499201	0.0009	0.0086	0.0003	0	0	0.0002	0.0022	0	0.0009444	146	154602	rs142918785	0.0004	0.0004	0.0004	0.0004	0.0105	0.0004	0.0004	0.0096	0.0093	0.0105	0.0005	3.827e-05	0	0	0.0036	8.903e-05	0.0012	4.637e-05	0.0025	0.0025	0.0029	0.0020	0.0082	0.0023	0.0022	0.0075	0.0072	0.0082	0	0.0009	0	0	0	0.0102	0.0002	0.0033	0	0.004	0.65419	D	0.004	0.74150	D	0.202	0.29746	B	0.064	0.27215	B	0.000568	0.43250	D	0.235841	0.999963	0.18878	N	0	0.06538	N	1.96	0.22270	T	-2.5	0.54382	D	0.178	0.19190	-1.0086	0.27354	T	0.010	0.03673	T	10	0.005345732	0.00117	T	.	.	.	0.152	0.39956	.	.	0.101711395817	0.09552	0.13148578197152905	0.13073	0.0421290730492	0.04534	0.322853773832	0.13853	T	0.02034	0.16033	T	-0.488878	0.00659	T	-0.469043	0.25620	T	0.0254730268723136	0.01335	T	0.637636	0.25136	T	0.11077683	0.26181	0.17467298	0.39880	0.11077683	0.26181	0.17467298	0.39880	-3.295	0.13673	T	.	.	0.187	0.40360	B	.;.	.;.	1.693159	0.21574	15.26	0.96026800925595757	0.28491	0.19554	0.20706	N	AEFDHI	0.087252	0.17691	N	-0.878246630375717	0.11361	0.5478677	-0.788896783181168	0.14768	0.7733314	0.999421350458261	0.39630	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.43	3.67	0.41236	0.288000	0.18695	1.643000	0.27803	-0.818000	0.02990	0.598000	0.27730	1.000000	0.68203	0.434000	0.27538	0.0:0.7454:0.1676:0.087	7.535	0.26877	634	0.64659	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010574	0.015152	0.019022	0.005848	0.000000	0.017241	0.000000	0.000000	0.07143	927.49	40	chr6	4069381	.	G	A	927.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.753;DP=303;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.49;ReadPosRankSum=-0.102;SOR=0.638	GT:AD:DP:GQ:PL	0/1:28,36:64:99:938,0,705	6	0	1	0
chr6	7910637	7910637	-	CCGCCG	exonic	TXNDC5	.	nonframeshift insertion	TXNDC5:NM_030810:exon1:c.139_140insCGGCGG:p.A46_D47insAA	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs759591654	0.0006	0.0005	0.0006	0.0005	0.0007	0.0005	0.0005	0.0006	0.0006	0.0002	5.353e-05	0	0	3.669e-05	0.0006	0.0007	0.0004	5.826e-05	0.0003	0.0003	0.0004	0.0002	0.0006	0.0002	0.0002	0.0003	0.0003	7.406e-05	0	0.0003	0	0.0006	0	0	0.0004	0.0025	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	606.5	35	chr6	7910637	.	T	TCCGCCG	606.5	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.85;DP=220;ExcessHet=0;FS=5.278;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=17.84;ReadPosRankSum=0.121;SOR=1.709	GT:AD:DP:GQ:PL	0/1:18,16:34:99:617,0,688	6	0	1	0
chr6	11134409	11134409	A	G	exonic	SMIM13	.	nonsynonymous SNV	SMIM13:NM_001135575:exon2:c.A83G:p.Y28C	.	437	1083	2	0	0	2	0.000922509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.312	0.0245276075164	.	.	0.0001	0	0	0	0	0	0	0.0003	1.29e-05	2	154602	rs752733232	1.073e-05	1.026e-05	5.644e-06	1.595e-05	8.847e-05	6.44e-06	5.11e-06	4.068e-05	2.856e-05	0	0	0	0	0	0	4.636e-06	5.177e-05	8.847e-05	1.315e-05	1.314e-05	0	2.691e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.471e-05	0	0.0002	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.987	0.77487	D	.	.	.	.	0.992486	0.41658	D	.	.	.	.	.	.	-7.3	0.94484	D	0.74	0.74007	-0.2893	0.75284	T	0.364	0.72483	T	6	0.6808586	0.71270	D	0.024528	0.47518	T	0.312	0.63375	0.329	0.31357	0.212008924253	0.20833	0.8064903326098675	0.80604	.	.	0.79660898447	0.81447	T	0.157166	0.49965	T	0.264612	0.79952	D	0.338623	0.89864	D	0.970610737800598	0.69013	D	.	.	.	0.72941965	0.79691	0.7451262	0.84935	0.72941965	0.79692	0.7451262	0.84936	-2.981	0.09978	T	.	.	0.588	0.68391	P	.	.	4.138655	0.61994	24.4	0.99541272103349288	0.70523	0.94946	0.62882	D	AEBI	0.667797	0.63580	D	0.564928213551716	0.70996	5.584232	0.567553515937648	0.72627	5.839816	0.0877869121857122	0.16043	0.706548	0.73137	0	0.653731	0.59785	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.31	5.31	0.75063	5.463000	0.66445	11.167000	0.87842	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	15.271	0.73404	802	0.44336	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	95.27	24	chr6	11134409	.	A	G	95.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.094;DP=164;ExcessHet=0;FS=2.817;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.94;ReadPosRankSum=0.869;SOR=0.136	GT:AD:DP:GQ:PL	0/1:7,5:12:99:105,0,205	5	0	1	1
chr6	17764729	17764729	A	G	exonic	KIF13A	.	nonsynonymous SNV	KIF13A:NM_001105567:exon37:c.T4655C:p.F1552S,KIF13A:NM_001105568:exon37:c.T4655C:p.F1552S,KIF13A:NM_001105566:exon38:c.T4694C:p.F1565S,KIF13A:NM_022113:exon39:c.T4799C:p.F1600S	.	439	1076	7	0	0	7	0.00324224	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.452	.	0.0031	0.00219649	0.0044	0.0012	0.0007	0	0.0114	0.0054	0.0035	0.0042	0.004075	630	154602	rs12211658	0.0047	0.0047	0.0047	0.0047	0.0049	0.0046	0.0046	0.0048	0.0048	0.0006	0.0014	0.0041	2.52e-05	0.0114	0.0010	0.0049	0.0042	0.0037	0.0041	0.0041	0.0041	0.0042	0.0055	0.0039	0.0038	0.0051	0.0049	0.0009	0.0636	0.0013	0.0035	0	0.0093	0	0.0055	0.0028	0.0044	0.001	0.91255	D	0.063	0.54159	T	0.999	0.90584	D	0.994	0.86255	D	0.000001	0.62929	D	0.056759	0.999968	0.52935	D	1.905	0.50856	L	0.63	0.53088	T	-2.93	0.62151	D	0.663	0.68255	-0.8285	0.53397	T	0.165	0.50323	T	10	0.009592205	0.00216	T	.	.	.	0.452	0.75211	.	.	0.546400721484	0.54296	0.5298646365150601	0.52910	1.18216629185	0.80048	0.743926584721	0.73550	T	0.120936	0.48935	T	-0.153581	0.27752	T	0.00950467	0.70950	D	0.0176958614126609	0.00500	T	0.951205	0.83363	D	0.7003856	0.78077	0.7632868	0.86015	0.7003856	0.78079	0.7632868	0.86016	-13.095	0.91480	D	.	.	0.920	0.84421	P	.;.;.;.;.;.	.;.;.;.;.;.	4.876987	0.79954	27.2	0.99893475365894746	0.96666	0.99251	0.93458	D	AEFBI	0.915068	0.87934	D	0.722244019615631	0.81089	7.441605	0.770325949262001	0.87665	9.301552	0.999999685269905	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.08	6.08	0.98982	8.947000	0.92735	11.235000	0.90242	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	16.651	0.85061	607	0.67291	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.008621	0.003049	0.003788	0.07143	895.44	43	chr6	17764729	.	A	G	895.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.573;DP=297;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.17;ReadPosRankSum=2.42;SOR=0.602	GT:AD:DP:GQ:PL	0/1:35,33:68:99:906,0,956	6	0	1	0
chr6	24145554	24145554	C	T	exonic	NRSN1	.	nonsynonymous SNV	NRSN1:NM_080723:exon4:c.C196T:p.L66F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.220	0.0253960966298	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.013	0.63109	D	1.0	0.90584	D	0.989	0.78396	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.69	0.78713	M	2.04	0.39401	T	-1.57	0.50175	N	0.716	0.72120	-0.9366	0.43149	T	0.125	0.43008	T	10	0.44065765	0.58079	T	0.025396	0.48370	D	0.220	0.51569	0.202	0.11659	0.625481101073	0.62243	0.6214858075856532	0.62081	1.05154938784	0.76170	0.661980450153	0.61693	T	0.106732	0.41833	T	0.0952099	0.63771	D	-0.101014	0.63320	T	0.97040581703186	0.68937	D	0.857914	0.54791	D	0.46572846	0.65027	0.39292505	0.64025	0.46572846	0.65028	0.39292505	0.64025	-5.631	0.43075	T	.	.	0.162	0.37159	B	.;.;.	.;.;.	4.745988	0.76591	26.5	0.99895236271233467	0.96819	0.96227	0.68120	D	AEFBCI	0.831099	0.74969	D	0.760478614766467	0.83585	8.056313	0.721496033539898	0.84012	8.174695	0.999999999663906	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.46	5.46	0.80021	5.804000	0.68800	7.707000	0.66598	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	0.0:1.0:0.0:0.0	19.326	0.94248	842	0.36989	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	474.08	36	chr6	24145554	.	C	T	474.08	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-1.235;DP=362;ExcessHet=1.383;FS=215.002;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=2.89;ReadPosRankSum=1.26;SOR=8.713	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:20,21:41:99:0|1:24145553_A_G:244,0,219:24145553	3	0	3	1
chr6	29375187	29375187	A	-	exonic	OR12D3	.	frameshift deletion	OR12D3:NM_030959:exon1:c.101delT:p.L34Rfs*2	.	437	1081	4	0	0	4	0.00184672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	.	8.739e-05	0	0.0003	0	0	0.0001	0	0	7.12e-05	11	154602	rs772754697	0.0001	0.0001	0.0001	0.0001	0.0007	0.0001	0.0001	0.0002	0.0002	2.987e-05	0.0003	0	0	1.912e-05	0.0007	0.0001	0.0002	3.48e-05	0.0002	0.0002	0.0002	8.074e-05	0.0009	0.0001	9.707e-05	0.0005	0.0004	2.415e-05	0	0.0009	0	0.0002	0	0	0.0001	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000545	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	290.59	27	chr6	29375186	.	CA	C	290.59	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1;DP=208;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.84;ReadPosRankSum=0.107;SOR=0.593	GT:AD:DP:GQ:PL	0/1:12,9:21:99:301,0,421	6	0	1	0
chr6	30158431	30158431	T	G	exonic	TRIM10	.	nonsynonymous SNV	TRIM10:NM_006778:exon3:c.A724C:p.K242Q,TRIM10:NM_052828:exon3:c.A724C:p.K242Q	.	419	1102	1	0	0	1	0.000453515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.221	0.0210127011593	.	.	8.599e-06	0	0	0	0	1.578e-05	0	0	6.5e-06	1	154602	rs757289413	8.215e-06	8.209e-06	5.449e-06	1.101e-05	0.0003	4.38e-06	3.46e-06	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	8.993e-06	0	0	6.578e-06	6.569e-06	0	1.347e-05	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.0	0.91255	D	0.007	0.69154	D	0.999	0.90584	D	0.994	0.86255	D	0.000027	0.55875	D	0.000000	0.979001	0.39518	D	3.16	0.88528	M	3.56	0.04696	T	-3.16	0.64710	D	0.458	0.53357	-1.1483	0.01077	T	0.040	0.17149	T	10	0.42696646	0.57238	T	0.021013	0.43710	T	0.221	0.51721	0.553	0.66995	0.528461186488	0.52492	0.4298027577488027	0.42897	0.542619880646	0.51363	0.529003024101	0.42893	T	0.050319	0.28560	T	-0.110215	0.34734	T	-0.326255	0.41884	T	0.970980584621429	0.69149	D	.	.	.	0.27465025	0.50530	0.26325077	0.52128	0.27465025	0.50530	0.26325077	0.52127	-8.637	0.65333	D	.	.	0.299	0.58072	B	.;.	.;.	4.266189	0.64870	24.8	0.99483882050836336	0.67069	0.97020	0.72227	D	AEFDBI	0.589978	0.58665	D	0.69828140446345	0.79520	7.094857	0.627552151722051	0.76948	6.586113	0.999995386451126	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.59043	0.30614	0	0.530356	0.10902	0	.	.	5.77	5.77	0.91077	5.137000	0.64630	.	.	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.830000	0.39126	0.0:0.0:0.0:1.0	12.491	0.55240	840	0.37365	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	802.44	33	chr6	30158431	.	T	G	802.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.43;DP=264;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.44;ReadPosRankSum=0.084;SOR=0.653	GT:AD:DP:GQ:PL	0/1:47,38:85:99:813,0,1202	6	0	1	0
chr6	30647826	30647826	A	G	exonic	C6orf136	.	nonsynonymous SNV	C6orf136:NM_001161376:exon1:c.A595G:p.R199G	.	421	1021	74	6	0	86	0.0404135	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	.	.	0.0171725	0.0293	0.0054	0.0290	0.0278	0	0.0178	0.0541	0.0388	0.003357	519	154602	rs117903822	0.0077	0.0074	0.0070	0.0084	0.0797	0.0076	0.0075	0.0772	0.0762	0.0052	0.0085	0.0167	0.0797	0.0052	0.0338	0.0038	0.0101	0.0258	0.0078	0.0078	0.0069	0.0088	0.0437	0.0075	0.0073	0.0390	0.0372	0.0039	0.0088	0.0118	0.0176	0.0437	0.0058	0.0374	0.0052	0.0123	0.0207	1.0	0.00964	T	0.332	0.18732	T	.	.	.	.	.	.	.	.	.	.	1	0.22124	N	.	.	.	.	.	.	-0.65	0.18877	N	0.01	0.00095	-0.9772	0.35638	T	0.014	0.05657	T	8	0.0018902421	0.00026	T	.	.	.	0.075	0.21907	.	.	.	.	0.06098385558283108	0.06038	1.24459615627	0.81633	.	.	.	0.01798	0.14575	T	-0.709725	0.00032	T	-0.729716	0.04340	T	0.00730309167067027	0.00084	T	0.329067	0.06866	T	.	.	.	.	.	.	.	.	-3.444	0.15656	T	.	.	0.046	0.00059	B	.;.	.;.	1.312319	0.17156	12.99	0.62416210181127441	0.06957	0.00276	0.01495	N	ALL	0.031049	0.03242	N	-1.38486048576254	0.02779	0.123214	-1.38930339050936	0.03365	0.1568165	0.999999999949627	0.74766	0.441713	0.08003	0	0.484254	0.07192	0	0.52208	0.10781	0	0.249971	0.05119	0	.	.	3.38	-1.41	0.08473	0.813000	0.26883	.	.	-0.121000	0.13915	0.014000	0.18986	0.926000	0.28431	0.943000	0.48514	0.4582:0.0:0.3434:0.1985	3.037	0.05757	851	0.35303	.;.	.	.	.	.	rs117903822	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.018692	0.005882	0.021739	0.035714	0.083333	0.093750	0.025316	0.000000	0.08333	213.27	26	chr6	30647826	.	A	G	213.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.009;DP=171;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.22;ReadPosRankSum=-2.028;SOR=0.743	GT:AD:DP:GQ:PL	0/1:6,9:15:99:223,0,130	5	0	1	1
chr6	30685364	30685364	C	G	exonic	PPP1R18	.	nonsynonymous SNV	PPP1R18:NM_133471:exon1:c.G655C:p.V219L,PPP1R18:NM_001134870:exon2:c.G655C:p.V219L	.	419	1043	54	6	0	66	0.0306691	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	.	0.0023	0.0061901	0.0061	0.0007	0.0036	0.0014	0.0020	0.0045	0.0069	0.0212	0.0054204	838	154602	rs143519393	0.0042	0.0042	0.0034	0.0049	0.0217	0.0041	0.0041	0.0209	0.0205	0.0005	0.0040	0.0052	0.0004	0.0018	0.0153	0.0031	0.0052	0.0217	0.0038	0.0038	0.0033	0.0042	0.0180	0.0035	0.0034	0.0150	0.0139	0.0006	0	0.0079	0.0046	0.0015	0.0025	0.0272	0.0040	0.0052	0.0180	0.082	0.33254	T	0.255	0.23365	T	0.008	0.14655	B	0.002	0.06944	B	0.700478	0.10098	N	0.818239	1	0.08975	N	2.32	0.66415	M	1.88	0.23884	T	-0.35	0.12847	N	0.132	0.12770	-0.9456	0.41715	T	0.014	0.05705	T	10	0.001848489	0.00025	T	.	.	.	0.021	0.04004	0.264	0.20946	0.0611884634855	0.05136	0.027450092187436007	0.02695	0.448885401441	0.44700	0.363796293736	0.19938	T	0.002987	0.02381	T	-0.614717	0.00119	T	-0.638855	0.09753	T	0.00821828713281253	0.00098	T	.	.	.	0.030433146	0.02707	0.08462599	0.19481	0.030433146	0.02706	0.08462599	0.19481	-3.728	0.19732	T	.	.	0.126	0.26886	B	.;.;.	.;.;.	1.542826	0.19785	14.43	0.89823851812728572	0.19134	0.09276	0.15065	N	AEFDGBHCI	0.099578	0.20041	N	-1.0622982690646	0.07348	0.3410551	-0.975248394405998	0.10343	0.5203191	0.999999959912266	0.74766	0.627647	0.40530	0	0.52208	0.09955	0	0.26897	0.05253	2	0.657601	0.63696	0	.	.	5.66	1.39	0.21325	0.790000	0.26562	.	.	-0.773000	0.03420	0.429000	0.26401	0.000000	0.08366	0.955000	0.50612	0.0:0.6904:0.0:0.3096	11.106	0.47423	862	0.33134	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.014161	0.010101	0.006793	0.015957	0.000000	0.052632	0.027439	0.015152	0.07143	736.45	33	chr6	30685364	.	C	G	736.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.313;DP=245;ExcessHet=0;FS=2.208;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.48;ReadPosRankSum=2.05;SOR=0.404	GT:AD:DP:GQ:PL	0/1:27,32:59:99:747,0,684	6	0	1	0
chr6	30703983	30703983	C	T	exonic	MDC1	.	nonsynonymous SNV	MDC1:NM_014641:exon10:c.G5200A:p.A1734T	.	424	1017	74	7	0	88	0.0414703	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	.	0.0044	0.0165735	0.0110	0.0030	0.0063	0.0409	0.0048	0.0063	0.0132	0.0247	0.0104074	1609	154602	rs75355880	0.0079	0.0079	0.0072	0.0086	0.0759	0.0078	0.0077	0.0737	0.0728	0.0035	0.0078	0.0167	0.0759	0.0053	0.0338	0.0039	0.0100	0.0256	0.0075	0.0075	0.0067	0.0084	0.0438	0.0071	0.0070	0.0391	0.0373	0.0029	0.0088	0.0112	0.0176	0.0438	0.0058	0.0374	0.0053	0.0123	0.0199	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.672941	0.10325	N	0.808128	1	0.08975	N	-1.78	0.00307	N	3.55	0.04746	T	0.94	0.01529	N	0.013	0.00142	-0.9339	0.43560	T	0.001	0.00348	T	10	0.0020232499	0.00028	T	.	.	.	0.018	0.03083	.	.	.	.	0.06377326123958094	0.06316	0.189930224763	0.21315	0.234251990914	0.02297	T	0.016035	0.13332	T	-0.791146	0.00009	T	-0.844117	0.01039	T	0.0050463368276341	0.00054	T	.	.	.	0.014551189	0.00098	0.03780534	0.03512	0.014551189	0.00098	0.03780534	0.03512	-3.401	0.15070	T	.	.	0.074	0.05188	B	.	.	-0.522186	0.01798	0.139	0.65426518840499925	0.07769	0.00870	0.03447	N	AEFDGBCI	0.012979	0.00158	N	-1.56879976541179	0.01427	0.06226877	-1.55244441102163	0.01959	0.08944971	0.999923987511578	0.46280	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.05	-4.12	0.03650	-0.676000	0.05321	.	.	-0.130000	0.13190	0.000000	0.06391	0.000000	0.08366	0.106000	0.18562	0.289:0.2635:0.1486:0.299	0.290	0.00239	884	0.28482	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.028867	0.010101	0.035326	0.031915	0.150000	0.068966	0.030488	0.018939	0.07143	879.53	36	chr6	30703983	.	C	T	879.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.208;DP=356;ExcessHet=0;FS=2.145;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.96;ReadPosRankSum=0.076;SOR=0.404	GT:AD:DP:GQ:PL	0/1:27,36:63:99:890,0,661	6	0	1	0
chr6	30704192	30704192	G	C	exonic	MDC1	.	nonsynonymous SNV	MDC1:NM_014641:exon10:c.C4991G:p.T1664S	.	422	1019	74	7	0	88	0.0413923	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	.	0.0043	0.0167732	0.0112	0.0030	0.0063	0.0421	0.0048	0.0063	0.0166	0.0258	0.0105885	1637	154602	rs80087328	0.0080	0.0080	0.0073	0.0087	0.0768	0.0079	0.0079	0.0745	0.0736	0.0034	0.0078	0.0167	0.0768	0.0053	0.0337	0.0039	0.0121	0.0263	0.0076	0.0077	0.0068	0.0085	0.0442	0.0073	0.0071	0.0395	0.0377	0.0029	0.0088	0.0114	0.0176	0.0442	0.0058	0.0374	0.0053	0.0180	0.0205	0.347	0.12428	T	0.529	0.10138	T	0.021	0.18474	B	0.018	0.18489	B	0.675874	0.10301	N	0.785142	1	0.08975	N	0.785	0.19527	N	2.67	0.12473	T	-0.85	0.23156	N	0.023	0.00407	-0.9176	0.45877	T	0.005	0.01833	T	10	0.0025712848	0.00039	T	.	.	.	0.006	0.00375	0.132	0.03662	.	.	0.052971124096217334	0.05239	0.176861744951	0.19898	0.229384556413	0.01923	T	0.022529	0.17353	T	-0.755738	0.00016	T	-0.796654	0.01987	T	0.00466072554484341	0.00050	T	.	.	.	0.021209378	0.00712	0.022170952	0.00247	0.021209378	0.00712	0.022170952	0.00247	-5.545	0.42287	T	.	.	0.094	0.14293	B	.	.	-0.958933	0.00831	0.028	0.77038592157196695	0.11711	0.12720	0.17439	N	AEFBCI	0.041463	0.06306	N	-1.47856639275995	0.02002	0.08794544	-1.55226613946532	0.01960	0.08950758	0.999416663980499	0.39577	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	3.93	-4.79	0.02966	-1.465000	0.02463	.	.	-0.858000	0.02657	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	0.0832:0.239:0.1956:0.4822	3.408	0.06922	884	0.28482	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.027778	0.015152	0.035326	0.031915	0.100000	0.051724	0.027439	0.018939	0.07143	1303.44	36	chr6	30704192	.	G	C	1303.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.019;DP=387;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.7;ReadPosRankSum=1.11;SOR=0.748	GT:AD:DP:GQ:PL	0/1:36,47:83:99:1314,0,990	6	0	1	0
chr6	30986916	30986916	-	GTGT	exonic	MUC21	.	frameshift insertion	MUC21:NM_001010909:exon2:c.741_742insGTGT:p.P248Vfs*13,MUC21:NM_001322371:exon3:c.741_742insGTGT:p.T248Vfs*13,MUC21:NM_001322370:exon4:c.741_742insGTGT:p.T248Vfs*13	.	469	1008	16	1	28	46	0.00884956	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.0011	0.0007	0.0009	0.0005	0.0016	0	0.0006	.	.	.	rs781771855	0.0060	0.0077	0.0058	0.0062	0.0206	0.0059	0.0058	0.0193	0.0188	0.0067	0.0107	0.0196	0.0206	0.0098	0.0054	0.0047	0.0099	0.0054	0.0025	0.0044	0.0021	0.0029	0.0071	0.0023	0.0022	0.0058	0.0053	0.0012	0	0.0071	0.0093	0.0017	0.0017	0	0.0024	0.0021	0.0009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	9493.2	40	chr6	30986916	.	A	AGTGT	9493.2	.	AC=2;AF=0.143;AN=14;BaseQRankSum=5.02;DP=1528;ExcessHet=0.3476;FS=0;MLEAC=2;MLEAF=0.143;MQ=57.49;MQRankSum=-5.243;QD=16.65;ReadPosRankSum=0.741;SOR=0.679	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:109,40:149:99:.:.:2766,0,4262:.	5	0	2	0
chr6	30986917	30986917	-	CAGTGGGGCCAGCACTGCCACCAACTCTGAGTCCAGCACGA	exonic	MUC21	.	frameshift insertion	MUC21:NM_001010909:exon2:c.742_743insCAGTGGGGCCAGCACTGCCACCAACTCTGAGTCCAGCACGA:p.S249Vfs*208,MUC21:NM_001322371:exon3:c.742_743insCAGTGGGGCCAGCACTGCCACCAACTCTGAGTCCAGCACGA:p.S249Vfs*268,MUC21:NM_001322370:exon4:c.742_743insCAGTGGGGCCAGCACTGCCACCAACTCTGAGTCCAGCACGA:p.S249Vfs*238	.	464	909	105	3	41	152	0.0575428	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0013	0.0010	0.0006	0.0011	0.0005	0.0017	0	0.0008	.	.	.	rs746182888	0.0071	0.0082	0.0068	0.0073	0.0307	0.0069	0.0069	0.0289	0.0281	0.0082	0.0135	0.0253	0.0307	0.0118	0.0069	0.0054	0.0120	0.0064	0.0037	0.0061	0.0031	0.0044	0.0102	0.0034	0.0032	0.0083	0.0076	0.0019	0	0.0102	0.0120	0.0028	0.0020	0	0.0033	0.0031	0.0021	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	10061.2	40	chr6	30986917	.	C	CCAGTGGGGCCAGCACTGCCACCAACTCTGAGTCCAGCACGA	10061.2	.	AC=2;AF=0.143;AN=14;BaseQRankSum=5.18;DP=1533;ExcessHet=0.3476;FS=0;MLEAC=2;MLEAF=0.143;MQ=57.52;MQRankSum=-5.308;QD=17.68;ReadPosRankSum=-1.1;SOR=0.721	GT:AD:DP:GQ:PL	0/1:108,39:147:99:2732,0,4257	5	0	2	0
chr6	31028713	31028713	C	0	exonic	MUC22	.	.	.	.	482	658	261	50	71	432	0.215265	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	26311.6	446	chr6	31028713	.	C	*	26311.6	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.4;DP=3269;ExcessHet=1.1394;FS=0.523;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.32;ReadPosRankSum=-0.686;SOR=0.656	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:150,185:335:99:.:.:7260,0,5694:.	6	0	1	0
chr6	31355338	31355338	T	C	exonic	HLA-B	.	nonsynonymous SNV	HLA-B:NM_005514:exon4:c.A874G:p.K292E	.	1	1059	462	0	0	462	0.17907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	.	.	.	0.1873	0.2102	0.1521	0.2285	0.1750	0.1708	0.2005	0.2469	0.0006531	17	26028	rs41541515	1.925e-05	0.0003	1.916e-05	1.935e-05	6.078e-05	1.335e-05	1.149e-05	1.006e-05	3.76e-06	6.078e-05	0	0.0005	0	0	0	9.027e-06	3.34e-05	2.33e-05	6.22e-05	0.0011	8.537e-05	3.706e-05	7.636e-05	2.881e-05	2.058e-05	1.414e-05	6.92e-06	7.636e-05	0	0	0.0003	0	0.0001	0	5.327e-05	0	0	0.277	0.15665	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	0.026571	0.25897	N	0.181463	0.999999	0.08975	N	.	.	.	2.69	0.12268	T	1.44	0.00794	N	0.014	0.00160	-0.9487	0.41194	T	0.003	0.00800	T	10	0.0029622018	0.00048	T	.	.	.	0.023	0.04649	.	.	.	.	0.09070377229671633	0.09003	0.307519446834	0.33047	.	.	.	0.030329	0.21526	T	-0.267069	0.12086	T	-0.621403	0.11076	T	0.00635520461095454	0.00071	T	0.121988	0.02209	T	0.23476017	0.46301	0.11296048	0.27259	0.23476017	0.46301	0.11296048	0.27258	2.737	0.00027	T	.	.	0.051	0.01328	B	.;.;.;.	.;.;.;.	-0.115766	0.03549	0.681	0.33208941956949856	0.01966	0.00329	0.01719	N	AEFDBHCI	0.042199	0.06517	N	-1.61921237088875	0.01172	0.05092742	-1.59245928361148	0.01701	0.07728939	0.99999239206602	0.74766	0.634777	0.41761	0	0.672317	0.65289	0	0.643519	0.47002	0	0.530356	0.10902	0	.	.	3.16	-1.11	0.09336	-2.713000	0.00887	.	.	-1.064000	0.01611	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.5345:0.1577:0.3077	4.780	0.12569	934	0.15400	.;Immunoglobulin-like domain|Immunoglobulin C1-set;Immunoglobulin-like domain|Immunoglobulin C1-set;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.220557	0.202020	0.191576	0.234234	0.150000	0.250000	0.253049	0.268939	0.1429	55.06	68	chr6	31355338	.	T	C	55.06	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-1.292;DP=645;ExcessHet=0.3476;FS=11.119;MLEAC=1;MLEAF=0.071;MQ=59.07;MQRankSum=-5.788;QD=0.28;ReadPosRankSum=1.49;SOR=1.701	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:48,6:54:7:.:.:7,0,1494:.	5	0	2	0
chr6	31355425	31355425	T	C	exonic	HLA-B	.	nonsynonymous SNV	HLA-B:NM_005514:exon4:c.A787G:p.R263G	.	0	927	595	0	0	595	0.242956	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	.	.	.	0.2427	0.2221	0.2151	0.2593	0.1977	0.2427	0.2413	0.2835	3.84e-05	1	26028	rs41545916	6.978e-05	0.0017	7.287e-05	6.665e-05	0.0004	5.837e-05	5.445e-05	6.35e-05	2.683e-05	6.07e-05	6.798e-05	0.0015	0	0	0.0004	3.628e-05	0.0001	8.195e-05	0.0003	0.0048	0.0004	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0.0003	0	0.0003	0.0011	0.0003	0	0	0.0003	0.0007	0	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.001	0.04355	B	0.017476	0.27716	N	0.165679	0.986046	0.24654	N	.	.	.	4.34	0.02341	T	3.3	0.00105	N	0.051	0.02272	-1.0151	0.25304	T	0.000	0.00114	T	10	0.0015430152	0.00017	T	.	.	.	0.070	0.20419	.	.	.	.	0.3942460569328166	0.39339	0.283348990526	0.30779	.	.	.	0.019855	0.15737	T	-0.268638	0.11909	T	-0.623656	0.10901	T	0.00166754910760778	0.00017	T	0.446155	0.12501	T	0.3324303	0.55668	0.11348576	0.27388	0.3324303	0.55669	0.11348576	0.27388	2.773	0.00026	T	.	.	0.034	0.00010	B	.;.	.;.	0.246319	0.06261	2.715	0.81034162823799205	0.13487	0.00542	0.02495	N	AEFDBHCI	0.071522	0.14241	N	-1.65128738568244	0.01029	0.04464861	-1.46518231632646	0.02636	0.1215648	0.999996036317984	0.74766	0.634777	0.41761	0	0.672317	0.65289	0	0.643519	0.47002	0	0.663205	0.64265	0	.	.	3.16	1.33	0.20958	1.006000	0.29449	.	.	-1.096000	0.01523	0.050000	0.21411	0.000000	0.08366	0.043000	0.14563	0.0:0.778:0.0:0.222	7.857	0.28649	934	0.15400	Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set;Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.260000	0.227273	0.254076	0.257426	0.150000	0.267241	0.246951	0.265152	0.1429	454.26	68	chr6	31355425	.	T	C	454.26	.	AC=2;AF=0.143;AN=14;BaseQRankSum=2.12;DP=887;ExcessHet=0.3476;FS=14.894;MLEAC=2;MLEAF=0.143;MQ=58.01;MQRankSum=-8.493;QD=1.57;ReadPosRankSum=-0.549;SOR=0.794	GT:AD:DP:GQ:PL	0/1:77,8:85:19:19,0,2135	5	0	2	0
chr6	31356720	31356720	T	0	exonic	HLA-B	.	.	.	.	2	80	21	0	123	144	0.116022	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	1666.05	35	chr6	31356720	.	T	*	1666.05	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.844;DP=304;ExcessHet=1.1394;FS=0.547;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=8.54;ReadPosRankSum=-1.428;SOR=0.639	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:17,13:30:99:0|1:31356711_C_CGGAG:495,0,675:31356711	5	0	2	0
chr6	31356827	31356827	T	0	exonic	HLA-B	.	.	.	.	73	133	388	93	835	1409	0.683333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	3248.86	79	chr6	31356827	.	T	*	3248.86	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-0.074;DP=685;ExcessHet=0.4813;FS=2.833;MLEAC=6;MLEAF=0.429;MQ=55.9;MQRankSum=-1.834;QD=5.84;ReadPosRankSum=-1.184;SOR=0.498	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,56:56:99:1|1:31356818_C_G:2499,169,0:31356818	3	2	2	0
chr6	31411341	31411341	G	A	exonic	MICA	.	nonsynonymous SNV	MICA:NM_000247:exon3:c.G595A:p.V199I,MICA:NM_001177519:exon3:c.G595A:p.V199I,MICA:NM_001289152:exon3:c.G304A:p.V102I,MICA:NM_001289153:exon3:c.G304A:p.V102I,MICA:NM_001289154:exon3:c.G181A:p.V61I	.	409	1063	48	2	0	52	0.0238751	.	.	.	2822873	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.015	.	0.0035	0.00199681	0.0054	0.0003	0.0052	0.0024	0.0016	0.0050	0.0266	0.0091	0.0028848	446	154602	rs41549718	0.0027	0.0027	0.0023	0.0030	0.0199	0.0026	0.0026	0.0170	0.0159	0.0004	0.0030	0.0003	0.0008	0.0016	0.0199	0.0023	0.0031	0.0090	0.0024	0.0024	0.0021	0.0028	0.0062	0.0022	0.0021	0.0045	0.0039	0.0005	0.0088	0.0038	0.0006	0.0006	0.0014	0.0102	0.0032	0.0052	0.0062	0.077	0.34095	T	0.218	0.26066	T	0.002	0.09854	B	0.003	0.08700	B	0.015888	0.01428	N	3.637770	1	0.08975	N	.	.	.	5.62	0.00808	T	-0.56	0.17003	N	0.083	0.06190	-0.9081	0.47085	T	0.001	0.00378	T	10	0.0042325854	0.00085	T	.	.	.	0.015	0.02232	.	.	0.0138822411134	0.00435	0.19776292023929762	0.19693	0.0854538752056	0.09655	0.25497430563	0.04310	T	.	.	.	-0.679157	0.00049	T	-0.7418	0.03815	T	0.00356876069672346	0.00038	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.11366	B	.;.	.;.	-0.305598	0.02594	0.320	0.79294907434106843	0.12677	0.00046	0.00367	N	AEFDBI	0.031240	0.03297	N	-1.35461808824982	0.03077	0.1369007	-1.47429991340762	0.02557	0.1178012	0.942790596828477	0.27538	0.722319	0.85440	0	0.724815	0.89359	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	1.41	-1.24	0.08948	-0.370000	0.07578	.	.	-1.707000	0.00749	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.7752:0.0:0.2248:0.0	4.903	0.13140	934	0.15400	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.020197	0.010101	0.005435	0.016129	0.000000	0.000000	0.039634	0.049618	0.07143	1389.45	115	chr6	31411341	.	G	A	1389.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.29;DP=469;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.79;ReadPosRankSum=1.78;SOR=0.612	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:51,37:88:99:0|1:31411338_G_A:1400,0,2010:31411338	6	0	1	0
chr6	31412383	31412384	TG	0	exonic;splicing	MICA;MICA	NM_000247:exon6:r.spl	.	.	.	653	335	270	56	208	590	0.363118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	451.11	23	chr6	31412383	.	TG	*	451.11	.	AC=3;AF=0.214;AN=14;BaseQRankSum=0.954;DP=260;ExcessHet=1.4958;FS=6.272;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=3.7;ReadPosRankSum=-1.021;SOR=0.341	GT:AD:DP:GQ:PL	0/1:14,10:24:99:369,0,558	4	0	3	0
chr6	31412384	31412384	G	0	exonic;splicing	MICA;MICA	NM_000247:exon6:c.949-1G>0	.	.	.	0	10	88	27	101	243	0.876543	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	4534.51	23	chr6	31412384	.	G	*	4534.51	.	AC=6;AF=0.429;AN=14;DP=257;ExcessHet=0;FS=0;MLEAC=4;MLEAF=0.286;MQ=60;QD=27.99;SOR=2.147	GT:AD:DP:GQ:PL	0/1:0,10:24:99:1115,597,558	2	1	4	0
chr6	31625601	31625601	T	C	exonic	PRRC2A	.	nonsynonymous SNV	PRRC2A:NM_004638:exon7:c.T749C:p.M250T,PRRC2A:NM_080686:exon7:c.T749C:p.M250T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.0178076993305	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.022e-07	6.841e-07	0	1.42e-06	9.161e-07	0	0	.	.	0	0	0	0	0	0	9.161e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.16	0.31427	T	0.985	0.61118	D	0.637	0.51992	P	0.000005	0.62929	D	0.000000	0.995498	0.42717	D	2.105	0.58435	M	4.53	0.01980	T	-4.28	0.76334	D	0.586	0.61680	-0.8368	0.52858	T	0.008	0.02720	T	10	0.43278176	0.57599	T	0.017808	0.39652	T	0.142	0.37995	0.195	0.10705	0.128874641272	0.12493	0.5487022548939708	0.54796	0.180877748463	0.20346	0.868078529835	0.92292	D	0.045246	0.27062	T	-0.000470291	0.51590	T	-0.238452	0.50949	T	0.941546738147736	0.61490	D	0.757724	0.38135	T	0.6803623	0.76989	0.726591	0.83849	0.6803623	0.76990	0.726591	0.83850	-10.319	0.75799	D	.	.	0.987	0.96107	P	.;.	.;.	3.901954	0.56841	23.8	0.93194787374129984	0.22862	0.76208	0.37359	D	AEFDBCI	0.190166	0.31740	N	0.457200889062192	0.64613	4.719805	0.475887910268732	0.66395	4.94659	0.999999757296763	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.06	5.06	0.67838	3.242000	0.51082	.	.	0.639000	0.52094	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:0.0:0.0:1.0	13.917	0.63410	878	0.29785	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	1273.39	63	chr6	31625601	.	T	C	1273.39	.	AC=4;AF=0.5;AN=8;BaseQRankSum=-0.123;DP=510;ExcessHet=3.1439;FS=402.682;MLEAC=5;MLEAF=0.625;MQ=60;MQRankSum=0;QD=3.58;ReadPosRankSum=1.76;SOR=8.661	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:39,11:50:99:0|1:31625601_T_C:162,0,1504:31625601	0	0	4	3
chr6	31625602	31625602	G	A	exonic	PRRC2A	.	nonsynonymous SNV	PRRC2A:NM_004638:exon7:c.G750A:p.M250I,PRRC2A:NM_080686:exon7:c.G750A:p.M250I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.179	0.0251130273271	7.7e-05	.	1.784e-05	0.0002	0	0	0	0	0	0	1.29e-05	2	154602	rs145609055	3.51e-06	4.788e-06	5.554e-06	1.42e-06	0.0001	1.03e-06	7.5e-07	4.163e-05	2.527e-05	0.0001	0	0	0	0	0	9.159e-07	0	0	6.577e-06	6.567e-06	1.286e-05	0	2.417e-05	0	0	.	.	2.417e-05	0	0	0	0	0	0	0	0	0	0.123	0.27544	T	0.045	0.49390	D	0.817	0.45613	P	0.292	0.40739	B	0.000005	0.62929	D	0.000000	0.999301	0.46608	D	2.105	0.58435	M	4.62	0.01834	T	-1.88	0.43906	N	0.361	0.40565	-0.6283	0.63643	T	0.004	0.01400	T	10	0.19789547	0.35739	T	0.025113	0.48090	D	0.179	0.44899	0.192	0.10304	0.19168177325	0.18762	0.40434125802200627	0.40350	0.17321795193	0.19509	0.804894983768	0.82710	D	0.021964	0.17018	T	-0.199437	0.20885	T	-0.287586	0.46022	T	0.45686399936676	0.31050	T	0.867413	0.56831	D	0.274247	0.50490	0.26731342	0.52588	0.274247	0.50490	0.26731342	0.52587	-5.343	0.40366	T	.	.	0.916	0.88221	P	.;.	.;.	4.189641	0.63134	24.5	0.9887765022119781	0.47771	0.95609	0.65407	D	AEFDBCI	0.573860	0.57688	D	0.38079905834961	0.60382	4.226512	0.455960616804997	0.65101	4.781292	0.999999999999631	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.06	5.06	0.67838	3.736000	0.54774	.	.	0.650000	0.52971	1.000000	0.71638	1.000000	0.68203	0.970000	0.54328	0.0:0.0:1.0:0.0	17.348	0.87202	878	0.29785	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	1270.39	63	chr6	31625602	.	G	A	1270.39	.	AC=4;AF=0.5;AN=8;BaseQRankSum=-1.302;DP=507;ExcessHet=3.1439;FS=403.706;MLEAC=5;MLEAF=0.625;MQ=60;MQRankSum=0;QD=3.56;ReadPosRankSum=1.7;SOR=8.661	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:39,11:50:99:0|1:31625601_T_C:162,0,1504:31625601	0	0	4	3
chr6	32040723	32040723	G	A	exonic	CYP21A2	.	nonsynonymous SNV	CYP21A2:NM_001128590:exon8:c.G1084A:p.A362T,CYP21A2:NM_001368144:exon8:c.G769A:p.A257T,CYP21A2:NM_000500:exon9:c.G1174A:p.A392T,CYP21A2:NM_001368143:exon9:c.G769A:p.A257T	Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, Autosomal recessive;Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, Autosomal recessive	1	1468	53	0	0	53	0.0177317	.	.	YES	227295	not_provided|Classic_congenital_adrenal_hyperplasia_due_to_21-hydroxylase_deficiency|not_specified	MedGen:C3661900|MONDO:MONDO:0008728,MedGen:C2936858,OMIM:201910,Orphanet:90794|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.391	.	.	.	0.0136	0.0022	0.0027	0.0107	0.0075	0.0111	0.0161	0.0370	0.00073	19	26028	rs202242769	0.0073	0.0094	0.0065	0.0081	0.0281	0.0072	0.0072	0.0271	0.0267	0.0014	0.0029	0.0062	0.0052	0.0057	0.0078	0.0062	0.0080	0.0281	0.0056	0.0078	0.0052	0.0061	0.0236	0.0053	0.0052	0.0201	0.0187	0.0019	0	0.0052	0.0064	0.0076	0.0046	0.0102	0.0068	0.0043	0.0236	0.222	0.19710	T	0.009	0.66756	D	0.998	0.73220	D	0.943	0.67921	D	0.000182	0.48115	D	0.000000	0.997099	0.43626	D	.	.	.	-0.29	0.67712	T	-1.76	0.46673	N	0.207	0.41162	-0.4454	0.70552	T	0.291	0.66249	T	10	0.0167332	0.00354	T	.	.	.	0.391	0.70684	.	.	.	.	0.8208711897923143	0.82044	2.92308694442	0.99127	0.399439871311	0.24991	T	.	.	.	-0.260499	0.12843	T	-0.125335	0.61362	T	0.962674856185913	0.66437	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.271	0.54997	B	.;.;.;.	.;.;.;.	4.243678	0.64354	24.7	0.99896296742780766	0.96895	0.94147	0.60255	D	AEFGI	0.623891	0.60766	D	0.411912280846738	0.62076	4.417763	0.352239609614193	0.58641	4.036018	0.642680114226977	0.22068	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.75	3.87	0.43823	2.306000	0.43333	.	.	0.673000	0.70640	0.055000	0.21596	1.000000	0.68203	0.805000	0.37950	0.0:0.0:0.8317:0.1682	12.469	0.55115	923	0.18507	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.017813	0.007042	0.019231	0.011494	0.000000	0.017241	0.019084	0.012712	0.07143	543.44	37	chr6	32040723	.	G	A	543.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.601;DP=360;ExcessHet=0;FS=10.742;MLEAC=1;MLEAF=0.071;MQ=35.58;MQRankSum=-1.922;QD=7.99;ReadPosRankSum=-0.307;SOR=0.858	GT:AD:DP:GQ:PL	0/1:41,27:68:99:554,0,924	6	0	1	0
chr6	32089372	32089372	C	T	exonic	TNXB	.	nonsynonymous SNV	TNXB:NM_001365276:exon5:c.G2366A:p.G789E,TNXB:NM_019105:exon5:c.G2366A:p.G789E	Ehlers-Danlos syndrome due to tenascin X deficiency, Autosomal recessive;Vesicoureteral reflux 8, Autosomal dominant	0	1484	38	0	0	38	0.0126414	.	.	.	1165791	not_provided|Cardiovascular_phenotype|Ehlers-Danlos_syndrome	MedGen:C3661900|MedGen:CN230736|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000,Orphanet:98249	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.286	0.0145942807907	0.0002	0.000199681	0.0005	0	0.0009	0	0	0.0003	0.0031	0.0017	0.0003428	53	154602	rs367834992	0.0003	0.0003	0.0002	0.0003	0.0061	0.0002	0.0002	0.0045	0.0039	0.0001	0.0003	3.853e-05	0	1.977e-05	0.0061	0.0001	0.0005	0.0014	0.0002	0.0002	0.0002	0.0002	0.0010	0.0002	0.0001	0.0004	0.0003	7.216e-05	0	0.0002	0	0	0	0.0034	0.0003	0.0009	0.0010	0.081	0.33418	T	0.018	0.59732	D	.	.	.	.	.	.	.	.	.	.	0.566953	0.31210	N	.	.	.	0.4	0.57261	T	-2.79	0.59059	D	0.536	0.56403	-1.0489	0.14705	T	0.124	0.42778	T	9	0.028067172	0.00944	T	0.014594	0.34806	T	0.286	0.60456	.	.	0.327946701059	0.32395	.	.	.	.	0.660463988781	0.61476	T	0.09056	0.38610	T	-0.444445	0.01218	T	-0.430205	0.29913	T	0.112639013446134	0.13695	T	0.777822	0.41150	T	0.25686014	0.48728	0.41285133	0.65475	0.26063287	0.49119	0.42123428	0.66062	-10.377	0.76137	D	0.12625993868028798	0.12714	0.114	0.22500	B	.;.;.	.;.;.	4.385162	0.67628	25.1	0.99795651901731497	0.88106	0.46322	0.27734	N	AEFBHI	0.243202	0.36452	N	0.191514843712535	0.50792	3.26588	0.21480015343165	0.50668	3.256501	0.999999963118828	0.74766	0.549168	0.22868	0	0.627178	0.54094	0	0.576033	0.28219	0	0.530356	0.10902	0	.	.	5.3	5.3	0.74745	2.713000	0.46862	.	.	0.599000	0.40250	0.987000	0.36337	1.000000	0.68203	0.909000	0.44452	0.0:1.0:0.0:0.0	16.491	0.84046	911	0.21964	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.006550	0.005051	0.005435	0.000000	0.000000	0.008621	0.012270	0.003788	0.08333	357.27	34	chr6	32089372	.	C	T	357.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.77;DP=208;ExcessHet=0;FS=1.441;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.76;ReadPosRankSum=-0.461;SOR=0.446	GT:AD:DP:GQ:PL	0/1:13,15:28:99:367,0,321	5	0	1	1
chr6	32521981	32521981	T	0	exonic	HLA-DRB5	.	.	.	.	195	584	309	195	239	938	0.374397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	6933.3	39	chr6	32521981	.	T	*	6933.3	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.95;DP=629;ExcessHet=2.3007;FS=12.737;MLEAC=1;MLEAF=0.083;MQ=49.51;MQRankSum=0.934;QD=15.79;ReadPosRankSum=-0.606;SOR=1.31	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:44,88:148:99:0|1:32521957_G_A:3773,0,1568:32521957	5	0	1	1
chr6	32522156	32522156	T	0	exonic	HLA-DRB5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	13412.6	23	chr6	32522156	.	T	*	13412.6	.	AC=6;AF=0.429;AN=14;DP=399;ExcessHet=0;FS=0;MLEAC=6;MLEAF=0.429;MQ=46.61;QD=33.7;SOR=1.193	GT:AD:DP:GQ:PGT:PID:PL:PS	1/0:0,10:75:99:.:.:3125,2709,2699:.	1	0	6	0
chr6	32522157	32522157	C	0	exonic	HLA-DRB5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	4902.46	23	chr6	32522157	.	C	*	4902.46	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-1.194;DP=394;ExcessHet=0;FS=5.589;MLEAC=5;MLEAF=0.417;MQ=47.07;MQRankSum=-5.386;QD=21.6;ReadPosRankSum=1.74;SOR=0.391	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:56,10:74:84:0|1:32522157_C_*:251,0,2321:32522157	1	0	5	1
chr6	32522159	32522159	T	0	exonic	HLA-DRB5	.	.	.	.	220	823	360	108	11	587	0.259226	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	4902.47	23	chr6	32522159	.	T	*	4902.47	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-1.23;DP=395;ExcessHet=0;FS=6.757;MLEAC=5;MLEAF=0.417;MQ=47.01;MQRankSum=-5.49;QD=21.6;ReadPosRankSum=1.92;SOR=0.366	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:55,11:74:99:0|1:32522157_C_*:296,0,2276:32522157	1	0	5	1
chr6	32530183	32530185	CTT	0	exonic	HLA-DRB5	.	.	.	.	1	58	89	55	23	222	0.631746	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	8291.32	37	chr6	32530183	.	CTT	*	8291.32	.	AC=1;AF=0.071;AN=14;DP=432;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=42.07;QD=31.45;SOR=1.539	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:0,40:47:99:.:.:1963,291,214:.	6	0	1	0
chr6	32530184	32530184	T	0	exonic	HLA-DRB5	.	.	.	.	81	232	140	96	973	1305	0.417085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7143	7710.75	37	chr6	32530184	.	T	*	7710.75	.	AC=10;AF=0.714;AN=14;DP=439;ExcessHet=0;FS=0;MLEAC=10;MLEAF=0.714;MQ=54.98;QD=19.04;SOR=1.278	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,47:47:99:.:.:2115,141,0:.	2	5	0	0
chr6	32530185	32530185	T	0	exonic	HLA-DRB5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	9221.64	37	chr6	32530185	.	T	*	9221.64	.	AC=9;AF=0.643;AN=14;DP=432;ExcessHet=0;FS=0;MLEAC=9;MLEAF=0.643;MQ=55.12;QD=23.05;SOR=1.31	GT:AD:DP:GQ:PGT:PID:PL:PS	1/0:0,6:46:99:.:.:1929,1680,1704:.	2	4	1	0
chr6	32584177	32584178	CG	0	exonic	HLA-DRB1	.	.	.	.	55	575	391	86	415	978	0.328663	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7143	15396.9	93	chr6	32584177	.	CG	*	15396.9	.	AC=10;AF=0.714;AN=14;DP=815;ExcessHet=0;FS=0;MLEAC=10;MLEAF=0.714;MQ=54.19;QD=20;SOR=1.274	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,11:11:33:1|1:32584176_CCG_C:495,33,0:32584176	1	4	2	0
chr6	32584178	32584178	G	0	exonic	HLA-DRB1	.	.	.	.	53	515	203	35	716	989	0.209517	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9286	490.48	93	chr6	32584178	.	G	*	490.48	.	AC=13;AF=0.929;AN=14;DP=815;ExcessHet=0;FS=0;MLEAC=13;MLEAF=0.929;MQ=53.91;QD=0.65;SOR=1.263	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,11:11:33:1|1:32584176_CCG_C:495,33,0:32584176	0	6	1	0
chr6	32584370	32584370	G	0	exonic	HLA-DRB1	.	.	.	.	164	387	826	46	99	1017	0.542553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	24561.1	243	chr6	32584370	.	G	*	24561.1	.	AC=6;AF=0.429;AN=14;BaseQRankSum=5.49;DP=1443;ExcessHet=0.3476;FS=0;MLEAC=6;MLEAF=0.429;MQ=51.3;MQRankSum=-1.108;QD=17.24;ReadPosRankSum=5.06;SOR=1.523	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,43:72:99:0|1:32584279_A_G:3113,1224,1088:32584279	1	0	6	0
chr6	32641444	32641444	G	0	exonic	HLA-DQA1	.	.	.	.	476	488	96	33	429	591	0.142355	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	2613.32	74	chr6	32641444	.	G	*	2613.32	.	AC=7;AF=0.5;AN=14;BaseQRankSum=0.712;DP=808;ExcessHet=2.5225;FS=20.088;MLEAC=7;MLEAF=0.5;MQ=50.87;MQRankSum=-1.068;QD=3.23;ReadPosRankSum=-0.792;SOR=1.271	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:85,29:114:99:0|1:32641430_C_T:962,0,3482:32641430	2	2	3	0
chr6	32641445	32641445	A	0	exonic	HLA-DQA1	.	.	.	.	478	485	97	33	429	592	0.143866	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	2700.32	74	chr6	32641445	.	A	*	2700.32	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-0.18;DP=810;ExcessHet=2.5225;FS=19.739;MLEAC=7;MLEAF=0.5;MQ=51.17;MQRankSum=-0.887;QD=3.33;ReadPosRankSum=-0.792;SOR=1.247	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:85,29:114:99:0|1:32641430_C_T:962,0,3482:32641430	2	2	3	0
chr6	32641462	32641462	G	0	exonic	HLA-DQA1	.	.	.	.	480	493	54	16	479	565	0.0802239	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	907.51	68	chr6	32641462	.	G	*	907.51	.	AC=9;AF=0.643;AN=14;DP=833;ExcessHet=2.5225;FS=10.673;MLEAC=9;MLEAF=0.643;MQ=53.04;QD=1.1;SOR=0.935	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:100,29:129:99:0|1:32641430_C_T:917,0,4005:32641430	0	2	5	0
chr6	32641464	32641464	T	0	exonic	HLA-DQA1	.	.	.	.	475	499	54	15	479	563	0.077634	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	910.51	68	chr6	32641464	.	T	*	910.51	.	AC=9;AF=0.643;AN=14;DP=836;ExcessHet=2.5225;FS=9.491;MLEAC=9;MLEAF=0.643;MQ=53.75;QD=1.11;SOR=0.927	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:100,29:129:99:0|1:32641430_C_T:917,0,4005:32641430	0	2	5	0
chr6	32641501	32641501	G	0	exonic	HLA-DQA1	.	.	.	.	496	603	6	2	415	425	0.00822368	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	5139.46	58	chr6	32641501	.	G	*	5139.46	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-0.15;DP=864;ExcessHet=2.5225;FS=1.787;MLEAC=7;MLEAF=0.5;MQ=57.9;MQRankSum=0;QD=5.95;ReadPosRankSum=-0.19;SOR=0.735	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:96,18:114:99:0|1:32641476_G_A:467,0,3977:32641476	2	2	3	0
chr6	32641522	32641522	A	0	exonic	HLA-DQA1	.	.	.	.	497	607	54	19	345	437	0.0704441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	4857.75	64	chr6	32641522	.	A	*	4857.75	.	AC=7;AF=0.5;AN=14;BaseQRankSum=0;DP=915;ExcessHet=2.5225;FS=6.106;MLEAC=7;MLEAF=0.5;MQ=58.2;MQRankSum=0;QD=5.32;ReadPosRankSum=1.36;SOR=1.094	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:95,27:122:99:0|1:32641476_G_A:694,0,3908:32641476	2	2	3	0
chr6	33007509	33007509	A	G	exonic	HLA-DOA	.	nonsynonymous SNV	HLA-DOA:NM_002119:exon3:c.T415C:p.F139L	.	427	1066	29	0	0	29	0.0134197	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.239	.	0.0009	0.00519169	0.0045	0.0002	0.0055	0.0015	0.0003	0.0028	0.0115	0.0155	0.0039197	606	154602	rs34987694	0.0028	0.0028	0.0022	0.0033	0.0163	0.0027	0.0026	0.0156	0.0153	0.0002	0.0052	0.0194	0.0007	0.0002	0.0104	0.0013	0.0050	0.0163	0.0024	0.0024	0.0022	0.0027	0.0141	0.0022	0.0022	0.0114	0.0104	0.0003	0	0.0052	0.0181	0.0004	9.418e-05	0.0102	0.0020	0.0033	0.0141	0.003	0.68238	D	0.01	0.65728	D	0.969	0.56768	D	0.721	0.54900	P	0.000039	0.55875	D	0.126169	0.999637	0.47961	D	3.17	0.88688	M	3.96	0.03354	T	-3.73	0.70920	D	0.557	0.58202	0.211	0.86088	D	0.499	0.81067	T	10	0.012116015	0.00262	T	.	.	.	0.239	0.54358	0.728	0.86198	0.21279746466	0.20884	0.5410917064688581	0.54034	0.972564744094	0.73426	0.453698754311	0.32450	T	0.209443	0.56966	T	-0.307338	0.07984	T	-0.201922	0.54464	T	0.0857759117301687	0.10708	T	.	.	.	0.5378518	0.69276	0.30170494	0.56203	0.5378518	0.69277	0.30170494	0.56202	-11.984	0.84773	D	.	.	0.965	0.88734	P	.	.	4.808168	0.78192	26.8	0.99867403067161387	0.94547	0.84875	0.43968	D	AEFDBHCI	0.812788	0.73543	D	0.505219025233158	0.67399	5.076327	0.47405946779811	0.66277	4.931049	0.999998788976186	0.74766	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.542086	0.14980	0	.	.	4.64	4.64	0.57399	5.771000	0.68535	.	.	0.754000	0.88378	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	12.366	0.54558	895	0.25842	Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010349	0.000000	0.005435	0.005319	0.000000	0.000000	0.015244	0.034091	0.07143	1426.44	43	chr6	33007509	.	A	G	1426.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.365;DP=551;ExcessHet=0;FS=0.734;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.46;ReadPosRankSum=1.61;SOR=0.578	GT:AD:DP:GQ:PL	0/1:48,58:106:99:1437,0,1149	6	0	1	0
chr6	36330545	36330545	T	G	exonic	BNIP5	.	nonsynonymous SNV	BNIP5:NM_001010903:exon2:c.A146C:p.H49P	.	430	1052	38	2	0	42	0.0195713	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.0031181435307	0.0018	0.00139776	0.0023	0.0002	0.0008	0.0002	0	0.0025	0.0034	0.0055	0.0020828	322	154602	rs150068380	0.0016	0.0016	0.0014	0.0018	0.0107	0.0016	0.0015	0.0086	0.0078	0.0006	0.0017	0.0078	7.557e-05	5.638e-05	0.0107	0.0013	0.0028	0.0047	0.0014	0.0014	0.0011	0.0017	0.0058	0.0013	0.0012	0.0041	0.0036	0.0002	0	0.0029	0.0069	0	0	0.0272	0.0014	0.0033	0.0058	0.108	0.29420	T	0.224	0.25591	T	0.001	0.07471	B	0.001	0.04355	B	0.777539	0.06634	N	1.144070	1	0.08975	N	1.445	0.36358	L	0.94	0.43672	T	-3.45	0.67589	D	0.181	0.19593	-0.9891	0.32828	T	0.026	0.11309	T	10	0.005949497	0.00133	T	0.003118	0.06786	T	0.013	0.01715	.	.	0.0551355673512	0.04727	0.025810512824234532	0.02532	0.0174000668708	0.01692	.	.	.	0.096922	0.39923	T	-0.621057	0.00108	T	-0.663929	0.08003	T	0.00478911691984368	0.00051	T	0.285671	0.05095	T	0.20796922	0.43018	0.21230693	0.45695	0.20796922	0.43018	0.21230693	0.45694	-1.757	0.02384	T	.	.	0.073	0.04681	B	.	.	0.747257	0.11166	7.807	0.67805466130581393	0.08465	0.01477	0.04919	N	AEFDBI	0.110001	0.21828	N	-1.16762852803248	0.05495	0.2506952	-1.18936839091032	0.06087	0.2919138	0.10476118711672	0.16484	0.516011	0.20929	0	0.610034	0.51514	0	0.491513	0.07944	0	0.542086	0.14980	0	.	.	4.33	1.31	0.20837	-0.355000	0.07721	-0.137000	0.11557	-0.375000	0.05424	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	0.0:0.5345:0.2178:0.2477	4.129	0.09610	840	0.37365	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.013092	0.000000	0.010870	0.011696	0.050000	0.008621	0.024390	0.011364	0.07143	885.53	36	chr6	36330545	.	T	G	885.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.742;DP=235;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.76;ReadPosRankSum=-1.377;SOR=0.665	GT:AD:DP:GQ:PL	0/1:23,37:60:99:896,0,546	6	0	1	0
chr6	41736997	41736997	C	A	exonic	PGC	.	nonsynonymous SNV	PGC:NM_002630:exon9:c.G1022T:p.G341V	.	415	1077	28	2	0	32	0.0146386	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.0221586271214	0.0005	0.00119808	0.0016	0	0.0003	0.0001	0.0002	0.0007	0.0023	0.0087	0.0013066	202	154602	rs146485859	0.0009	0.0009	0.0007	0.0012	0.0080	0.0009	0.0009	0.0075	0.0073	8.966e-05	0.0004	0.0013	0.0001	9.37e-05	0.0061	0.0005	0.0015	0.0080	0.0007	0.0007	0.0005	0.0008	0.0075	0.0006	0.0005	0.0055	0.0049	0.0002	0	0.0004	0.0023	0.0002	0	0.0068	0.0006	0.0014	0.0075	0.001	0.78490	D	0.078	0.42261	T	0.936	0.52359	P	0.847	0.60522	P	0.746298	0.06458	N	1.119980	0.999995	0.08975	N	3.685	0.94485	H	1.07	0.39586	T	-5.73	0.87611	D	0.418	0.45803	-0.9639	0.38428	T	0.181	0.52889	T	10	0.017688364	0.00379	T	0.022159	0.45019	T	0.071	0.20720	.	.	0.53177700221	0.52827	0.8226655142697801	0.82223	0.458892560868	0.45492	0.305901169777	0.11288	T	0.087464	0.37947	T	-0.459583	0.00989	T	-0.427808	0.30186	T	0.126171198449256	0.15024	T	0.59644	0.22167	T	0.3811278	0.59398	0.4182421	0.65854	0.3811278	0.59398	0.4182421	0.65854	-9.789	0.72638	D	.	.	0.359	0.57142	A	.	.	2.044254	0.25985	16.96	0.98421708193010871	0.41288	0.23523	0.22103	N	AEFDBI	0.215925	0.34123	N	-0.318322445950699	0.28453	1.569451	-0.613910533028169	0.19135	1.025364	0.999942990448201	0.47345	0.580535	0.33130	0	0.59043	0.45803	0	0.576033	0.28219	0	0.564101	0.26826	0	.	.	4.82	-0.397	0.11804	0.696000	0.25220	-1.193000	0.06063	-0.202000	0.08738	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.603:0.1171:0.28	6.667	0.22237	605	0.67457	Peptidase family A1 domain|Peptidase family A1 domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.008586	0.000000	0.004087	0.005848	0.000000	0.034483	0.009202	0.015267	0.07143	646.44	42	chr6	41736997	.	C	A	646.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.606;DP=254;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.47;ReadPosRankSum=0.435;SOR=0.773	GT:AD:DP:GQ:PL	0/1:22,26:48:99:657,0,534	6	0	1	0
chr6	42852135	42852135	C	A	exonic	BICRAL	.	nonsynonymous SNV	BICRAL:NM_015349:exon6:c.C1883A:p.P628H,BICRAL:NM_001318819:exon8:c.C1883A:p.P628H	.	421	1090	9	2	0	13	0.00592795	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.00826715723514	0.0002	0.00179712	0.0012	0	8.648e-05	0	0	0.0003	0.0044	0.0076	0.0010608	164	154602	rs140518750	0.0006	0.0006	0.0004	0.0008	0.0071	0.0006	0.0006	0.0066	0.0064	5.975e-05	0.0002	0	2.519e-05	0	0.0029	0.0002	0.0007	0.0071	0.0003	0.0003	0.0002	0.0004	0.0056	0.0002	0.0002	0.0040	0.0034	0	0	0	0	0.0002	0	0.0068	0.0002	0.0009	0.0056	0.029	0.45756	D	0.157	0.31730	T	0.115	0.26429	B	0.176	0.35644	B	0.022867	0.26551	N	0.327767	0.987212	0.24539	N	.	.	.	0.81	0.48460	T	-2.1	0.47852	N	0.195	0.21449	-1.0862	0.06191	T	0.035	0.15204	T	10	0.0053429306	0.00117	T	0.008267	0.21903	T	0.066	0.19193	.	.	0.043077524339	0.03247	0.19289496972479386	0.19207	0.438571413743	0.43886	0.326748043299	0.14443	T	0.03144	0.22043	T	-0.513038	0.00482	T	-0.505435	0.21785	T	0.0457464214101985	0.04737	T	0.741226	0.36032	T	0.10629884	0.25134	0.102523215	0.24576	0.10629884	0.25133	0.102523215	0.24575	-4.605	0.32234	T	.	.	0.094	0.16929	B	.;.;.	.;.;.	3.185156	0.43250	21.7	0.9915983892222997	0.54071	0.93826	0.59302	D	AEFDBI	0.186060	0.31337	N	-0.0798837637635556	0.38274	2.239237	0.0932719128397582	0.44209	2.707128	0.966780486418152	0.28929	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	4.95	4.95	0.64894	2.290000	0.43193	7.304000	0.58101	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.9155:0.0:0.0845	11.281	0.48431	375	0.84013	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.005435	0.000000	0.000000	0.000000	0.000000	0.003788	0.07143	1035.44	35	chr6	42852135	.	C	A	1035.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.035;DP=248;ExcessHet=0;FS=2.127;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.23;ReadPosRankSum=-0.486;SOR=0.869	GT:AD:DP:GQ:PL	0/1:23,45:68:99:1046,0,509	6	0	1	0
chr6	42864976	42864976	C	T	exonic	BICRAL	.	nonsynonymous SNV	BICRAL:NM_015349:exon12:c.C2770T:p.R924W,BICRAL:NM_001318819:exon14:c.C2770T:p.R924W	.	0	225	1	0	0	1	0.00221729	.	.	.	3427634	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.079	0.0157603866465	.	0.000199681	4.128e-05	0	0	0	0	6.009e-05	0	6.061e-05	3.88e-05	6	154602	rs575050000	3.762e-05	3.762e-05	3.675e-05	3.85e-05	0.0003	2.96e-05	2.656e-05	6.092e-05	2.521e-05	0	2.236e-05	0	0.0001	1.874e-05	0.0003	3.687e-05	8.279e-05	1.159e-05	1.97e-05	1.969e-05	0	4.03e-05	0.0002	5.24e-06	2.45e-06	.	.	0	0	6.541e-05	0	0.0002	0	0	0	0	0.0002	0.033	0.44358	D	0.023	0.57104	D	0.987	0.61912	D	0.431	0.45421	B	0.026233	0.25954	N	0.348813	0.925787	0.27184	N	.	.	.	0.79	0.49068	T	-0.6	0.17834	N	0.212	0.23632	-1.0270	0.21429	T	0.042	0.18202	T	10	0.08703971	0.14853	T	0.01576	0.36670	T	0.079	0.23065	0.164	0.06842	0.31316556289	0.30919	0.27164198626460495	0.27077	0.659128260131	0.58789	0.376474827528	0.21755	T	0.013996	0.11998	T	-0.281293	0.10530	T	-0.461538	0.26431	T	0.26352260534633	0.23468	T	0.759324	0.38363	T	0.048985716	0.08626	0.035840947	0.02913	0.048985716	0.08626	0.035840947	0.02912	-5.146	0.38388	T	.	.	0.090	0.13550	B	.;.;.	.;.;.	4.595151	0.72728	25.9	0.99925650972687041	0.99042	0.69294	0.34131	D	AEFDGBI	0.145703	0.26897	N	0.286739315984829	0.55474	3.711615	0.338532262880995	0.57818	3.94926	0.983466594671019	0.30563	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.34	3.45	0.38602	1.441000	0.34645	3.454000	0.38467	0.599000	0.40250	0.959000	0.33545	1.000000	0.68203	0.936000	0.47498	0.1312:0.5109:0.2671:0.0908	3.946	0.08845	376	0.83959	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1212.46	35	chr6	42864976	.	C	T	1212.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.04;DP=269;ExcessHet=0;FS=4.111;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.78;ReadPosRankSum=0.921;SOR=1.176	GT:AD:DP:GQ:PL	0/1:41,47:88:99:1223,0,911	6	0	1	0
chr6	43205063	43205063	G	A	exonic	CUL9	.	nonsynonymous SNV	CUL9:NM_015089:exon23:c.G4580A:p.R1527H	.	240	1276	6	0	0	6	0.00234558	.	.	.	2373351	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.156	0.0247017443658	7.7e-05	0.000399361	0.0001	9.658e-05	0.0002	0	0	7.569e-05	0	0.0005	0.0001164	18	154602	rs371127607	7.414e-05	7.661e-05	4.915e-05	9.941e-05	0.0009	6.27e-05	5.828e-05	0.0005	0.0004	0.0002	0	3.845e-05	0	1.931e-05	0.0009	3.334e-05	0.0001	0.0006	9.19e-05	9.186e-05	7.707e-05	0.0001	0.0006	5.523e-05	4.361e-05	0.0002	8.996e-05	0.0001	0	6.533e-05	0	0	0	0	5.88e-05	0	0.0006	0.092	0.31682	T	0.068	0.44302	T	0.008	0.14655	B	0.036	0.22909	B	0.001335	0.39379	N	0.282258	0.970404	0.38796	D	0.895	0.22405	L	-0.83	0.74159	T	-2.12	0.48184	N	0.345	0.38746	-0.9327	0.43740	T	0.146	0.47111	T	10	0.07188931	0.10658	T	0.024702	0.47687	T	0.156	0.40720	.	.	0.419839959566	0.41604	0.29277827948716556	0.29190	0.473772204967	0.46581	0.327171325684	0.14507	T	0.295564	0.66822	T	-0.326142	0.06407	T	-0.340957	0.40235	T	0.0612367096324267	0.07361	T	0.851115	0.54791	D	0.048482187	0.08456	0.05386354	0.09154	0.048482187	0.08456	0.05386354	0.09153	-8.309	0.63156	D	.	.	0.076	0.05935	B	.;.	.;.	2.208098	0.28167	17.71	0.98608747785377759	0.43611	0.95281	0.64114	D	AEFBI	0.388348	0.46799	N	-0.362552532685557	0.26814	1.466311	-0.23078393712651	0.30440	1.713871	0.961530654618586	0.28561	0.634777	0.41761	0	0.643519	0.57511	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.35	2.55	0.29757	3.352000	0.51954	-2.127000	0.04173	-0.119000	0.14319	1.000000	0.71638	0.000000	0.08366	0.977000	0.56843	0.2159:0.1341:0.6499:0.0	6.184	0.19700	364	0.84707	Cullin, N-terminal;Cullin, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	573.45	37	chr6	43205063	.	G	A	573.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.66;DP=233;ExcessHet=0;FS=6.422;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.03;ReadPosRankSum=2.56;SOR=1.696	GT:AD:DP:GQ:PL	0/1:23,21:44:99:584,0,547	6	0	1	0
chr6	44229406	44229406	C	T	exonic	SLC29A1	.	nonsynonymous SNV	SLC29A1:NM_001304465:exon3:c.C124T:p.L42F,SLC29A1:NM_001304466:exon3:c.C121T:p.L41F,SLC29A1:NM_001372327:exon3:c.C46T:p.L16F,SLC29A1:NM_001078175:exon4:c.C46T:p.L16F,SLC29A1:NM_001078177:exon4:c.C46T:p.L16F,SLC29A1:NM_001304462:exon4:c.C283T:p.L95F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.199	0.0270842663741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.194	0.20835	T	0.239	0.24477	T	0.722	0.42387	P	0.21	0.37304	B	0.000291	0.46274	D	0.141721	0.992018	0.41532	D	1.12	0.28775	L	-0.64	0.72125	T	-1.54	0.37375	N	0.57	0.59563	-0.8125	0.54399	T	0.190	0.54108	T	10	0.2805399	0.45630	T	0.027084	0.49938	D	0.199	0.48268	.	.	0.289027227714	0.28505	.	.	0.314550106018	0.33734	0.57654607296	0.49599	T	0.247412	0.61705	T	-0.0159197	0.49434	T	-0.260644	0.48761	T	0.780354142189026	0.45072	D	0.80002	0.44873	T	0.25879025	0.48930	0.16195175	0.37644	0.25879025	0.48930	0.16195175	0.37643	-6.311	0.48809	T	0.2968931265094968	0.39397	0.101	0.35477	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	3.476885	0.48538	22.6	0.99733818646622996	0.82975	0.86155	0.45383	D	AEFBI	0.483729	0.52405	N	0.104427770763267	0.46670	2.903757	0.164691005738116	0.47925	3.015602	0.999980561748904	0.51787	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.34	4.45	0.53365	1.246000	0.32405	1.800000	0.28874	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.1479:0.7746:0.0:0.0775	8.891	0.34594	794	0.45591	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4167	261.05	56	chr6	44229406	.	C	T	261.05	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-2.601;DP=506;ExcessHet=6.1542;FS=331.328;MLEAC=5;MLEAF=0.417;MQ=60;MQRankSum=0;QD=0.67;ReadPosRankSum=0.67;SOR=8.138	GT:AD:DP:GQ:PL	0/1:25,11:36:48:48,0,361	1	0	5	1
chr6	46168058	46168058	T	C	exonic	ENPP5	.	nonsynonymous SNV	ENPP5:NM_021572:exon2:c.A205G:p.I69V,ENPP5:NM_001290072:exon3:c.A205G:p.I69V	.	434	1052	34	2	0	38	0.0177404	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	.	0.0067	0.00199681	0.0060	0.0014	0.0028	0	0.0095	0.0080	0.0188	0.0038	0.0057438	888	154602	rs34432940	0.0064	0.0064	0.0064	0.0064	0.0120	0.0063	0.0062	0.0097	0.0089	0.0009	0.0033	0.0203	0	0.0083	0.0120	0.0066	0.0069	0.0043	0.0054	0.0053	0.0052	0.0055	0.0067	0.0050	0.0049	0.0062	0.0060	0.0010	0.0822	0.0034	0.0159	0	0.0084	0.0068	0.0067	0.0076	0.0054	0.126	0.27194	T	0.262	0.22895	T	0.035	0.20614	B	0.05	0.25278	B	0.000000	0.84330	D	0.050250	0.865251	0.35461	D	0.505	0.13445	N	-0.63	0.72011	T	-0.4	0.13805	N	0.109	0.14338	-1.0707	0.09260	T	0.084	0.32986	T	10	0.012347043	0.00266	T	.	.	.	0.064	0.18567	.	.	0.414539908741	0.41071	0.7343181863062871	0.73376	0.18094129058	0.20352	0.522546648979	0.41984	T	0.020387	0.16063	T	-0.460545	0.00976	T	-0.430452	0.29884	T	0.00810857899410531	0.00097	T	0.870113	0.57479	D	0.18285523	0.39524	0.082540125	0.18846	0.18285523	0.39524	0.082540125	0.18846	-3.053	0.10763	T	.	.	0.090	0.12465	B	.;.	.;.	2.384533	0.30617	18.49	0.97518443837251167	0.34389	0.88442	0.48372	D	AEFBI	0.347263	0.44180	N	-0.328549877010341	0.28068	1.545102	-0.147359051158791	0.33510	1.917597	0.00111298835938549	0.08239	0.651	0.46895	0	0.59043	0.45803	0	0.65145	0.50148	0	0.542086	0.14980	0	.	.	5.51	3.07	0.34476	2.590000	0.45819	2.848000	0.35122	0.595000	0.32841	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.1187:0.1209:0.7604	8.028	0.29609	825	0.40060	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.013595	0.010101	0.013587	0.002924	0.000000	0.025862	0.021341	0.018939	0.07143	720.63	40	chr6	46168058	.	T	C	720.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.972;DP=277;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.09;ReadPosRankSum=-1.132;SOR=0.656	GT:AD:DP:GQ:PL	0/1:35,30:65:99:731,0,855	6	0	1	0
chr6	52794262	52794262	-	A	exonic	GSTA1	.	stopgain	GSTA1:NM_145740:exon5:c.276dupT:p.D93*	.	418	1103	1	0	0	1	0.000453104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.272e-06	0	0	0	0	1.502e-05	0	0	6.5e-06	1	154602	rs769646484	4.115e-06	4.104e-06	1.364e-06	6.894e-06	1.169e-05	1.48e-06	9.7e-07	.	.	0	0	0	0	0	0	9.007e-07	6.641e-05	1.169e-05	6.572e-06	6.566e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1029.59	34	chr6	52794262	.	C	CA	1029.59	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.422;DP=309;ExcessHet=0;FS=1.247;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=18.06;ReadPosRankSum=0.627;SOR=1.048	GT:AD:DP:GQ:PL	0/1:23,34:57:99:1040,0,650	6	0	1	0
chr6	69962835	69962835	G	A	exonic	COL19A1	.	nonsynonymous SNV	COL19A1:NM_001858:exon11:c.G991A:p.G331S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.870	0.109269620332	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1294236513	1.375e-06	2.052e-06	1.368e-06	1.382e-06	1.806e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.806e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.66756	D	0.833	0.46172	P	0.669	0.53077	P	0.000213	0.47681	D	0.132704	0.976601	0.39291	D	3.775	0.95212	H	.	.	.	.	.	.	0.639	0.65159	1.097	0.99516	D	0.971	0.99091	D	10	0.9856405	0.98828	D	0.10927	0.78616	D	.	.	0.991	0.99904	0.676409406839	0.67366	0.8622976150248376	0.86193	.	.	0.573664188385	0.49195	T	0.841083	0.96294	D	0.106786	0.65018	D	-0.0843855	0.64583	T	0.990990161895752	0.81240	D	0.874613	0.58533	D	0.79001725	0.83274	0.7607314	0.85863	0.79001725	0.83276	0.7607314	0.85864	-8.98	0.67568	D	.	.	0.203	0.42749	B	.	.	4.397239	0.67907	25.2	0.95685738570186241	0.27554	0.88317	0.48190	D	AEFI	0.679220	0.64332	D	0.678838278342254	0.78246	6.833005	0.659050173898862	0.79286	7.050456	0.9875522483515	0.31292	0.651	0.46895	0	0.708844	0.79440	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.2	5.2	0.71720	4.465000	0.59876	11.784000	0.96188	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	14.604	0.68060	679	0.60090	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	98.27	33	chr6	69962835	.	G	A	98.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.814;DP=190;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=3.28;ReadPosRankSum=-0.822;SOR=0.54	GT:AD:DP:GQ:PL	0/1:22,8:30:99:108,0,486	5	0	1	1
chr6	75886849	75886849	A	G	exonic	MYO6	.	nonsynonymous SNV	MYO6:NM_001300899:exon25:c.A2513G:p.D838G,MYO6:NM_001368136:exon25:c.A2513G:p.D838G,MYO6:NM_001368137:exon25:c.A2513G:p.D838G,MYO6:NM_001368138:exon25:c.A2498G:p.D833G,MYO6:NM_001368865:exon25:c.A2513G:p.D838G,MYO6:NM_001368866:exon25:c.A2513G:p.D838G,MYO6:NM_004999:exon25:c.A2513G:p.D838G	Deafness, autosomal dominant 22, Autosomal dominant;Deafness, autosomal dominant 22, with hypertrophic cardiomyopathy, Autosomal dominant;Deafness, autosomal recessive 37, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.559	0.0465878760541	.	.	2.478e-05	0	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs746906605	2.202e-05	2.19e-05	6.849e-06	3.732e-05	0.0003	1.593e-05	1.363e-05	0.0002	0.0001	0	0	0	0	0	0.0002	8.135e-06	0	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.314	0.13834	T	0.36	0.16964	T	0.726	0.42471	P	0.164	0.34953	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.4	0.69460	M	-2.41	0.88689	D	-1.45	0.35597	N	0.685	0.69125	-0.0493	0.81221	T	0.479	0.80052	T	10	0.5351071	0.63403	D	0.046588	0.62527	D	0.559	0.81888	0.596	0.72617	0.937206677049	0.93656	0.6959727683852743	0.69538	0.340094388157	0.35952	0.735907554626	0.72370	T	0.116764	0.44714	T	0.0845727	0.62571	D	0.158006	0.80683	D	0.314681967513893	0.25605	T	0.957004	0.84069	D	.	.	.	.	.	.	.	.	-9.164	0.69178	D	.	.	0.140	0.32202	B	.;.;.;.;.;.	.;.;.;.;.;.	4.122732	0.61634	24.4	0.98876151855259931	0.47736	0.99732	0.99045	D	AEFBI	0.932857	0.92384	D	0.394365831299619	0.61118	4.308522	0.515914733125727	0.69060	5.306769	0.999977439165053	0.50053	0.732398	0.92422	0	0.633656	0.55848	0	0.659464	0.59346	0	0.727631	0.95156	0	.	.	5.93	5.93	0.95888	8.854000	0.91835	11.091000	0.85930	0.750000	0.87069	1.000000	0.71638	1.000000	0.68203	0.908000	0.44358	1.0:0.0:0.0:0.0	16.384	0.83331	417	0.81662	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	135.27	27	chr6	75886849	.	A	G	135.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.61;DP=125;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.53;ReadPosRankSum=0.613;SOR=1.508	GT:AD:DP:GQ:PL	0/1:5,5:10:99:145,0,109	5	0	1	1
chr6	83398366	83398366	C	T	splicing	ME1	NM_002395:exon3:c.362+1G>A	.	.	.	444	1073	5	0	0	5	0.0023245	1.0000	0.938	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0058	0.00259585	0.0056	0.0012	0.0016	0	0.0062	0.0084	0.0044	0.0023	0.0057502	889	154602	rs78734745	0.0066	0.0066	0.0068	0.0064	0.0077	0.0065	0.0065	0.0076	0.0075	0.0006	0.0018	0.0002	0	0.0065	0.0056	0.0077	0.0048	0.0028	0.0049	0.0049	0.0053	0.0045	0.0087	0.0046	0.0045	0.0081	0.0079	0.0011	0.0055	0.0024	0	0	0.0048	0	0.0087	0.0033	0.0027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14129	0.68448	D	0.439572	0.93309	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.952412	0.94165	33	0.99568810204548441	0.72258	0.98325	0.81646	D	AEFBI	.	.	.	1.22903541350303	0.99772	26.63674	1.09683216983553	0.99775	26.71014	0.999999999569493	0.74766	0.078448	0.01964	0	0.097471	0.02872	0	0.060301	0.00762	0	0.092715	0.02821	0	0.987277	0.95699	5.86	5.86	0.93936	7.902000	0.86082	7.579000	0.60911	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:1.0:0.0:0.0	20.188	0.98225	754	0.51307	.	.	.	.	.	rs78734745	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	161.27	22	chr6	83398366	.	C	T	161.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.848;DP=159;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.75;ReadPosRankSum=0.564;SOR=1.022	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:8,7:15:99:0|1:83398346_A_T:171,0,181:83398346	5	0	1	1
chr6	84171654	84171654	C	T	exonic	CEP162	.	nonsynonymous SNV	CEP162:NM_001286206:exon17:c.G2003A:p.R668Q,CEP162:NM_014895:exon17:c.G2231A:p.R744Q	.	586	928	7	1	0	9	0.00482574	.	.	.	2820517	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.017	.	0.0023	0.00199681	0.0066	0.0007	0.0029	0	0.0279	0.0061	0.0104	0.0091	0.002956	457	154602	rs142624944	0.0032	0.0033	0.0031	0.0033	0.0070	0.0031	0.0031	0.0057	0.0056	0.0004	0.0009	0.0010	0	0.0152	0.0070	0.0028	0.0030	0.0062	0.0035	0.0035	0.0032	0.0038	0.0044	0.0033	0.0032	0.0038	0.0036	0.0004	0.0121	0.0008	0.0009	0	0.0167	0.0137	0.0042	0.0024	0.0044	0.395	0.10659	T	0.657	0.06576	T	0.055	0.22733	B	0.008	0.13708	B	0.738434	0.09796	N	0.878115	1	0.08975	N	1.485	0.37223	L	1.49	0.31470	T	-0.7	0.19933	N	0.111	0.09914	-0.9481	0.41296	T	0.016	0.06616	T	10	0.002163887	0.00031	T	.	.	.	0.017	0.02790	.	.	0.0611884634855	0.05136	0.12478103710927478	0.12404	0.0184041785563	0.01797	0.230163395405	0.01980	T	0.007522	0.06921	T	-0.681509	0.00047	T	-0.747011	0.03604	T	0.0170301523191542	0.00451	T	0.675632	0.28413	T	0.035422776	0.04166	0.028137911	0.01023	0.035422776	0.04165	0.028137911	0.01022	-5.384	0.40765	T	.	.	0.077	0.06525	B	.;.;.	.;.;.	1.238415	0.16341	12.48	0.93773666028667269	0.23728	0.02449	0.06892	N	AEFBI	0.037134	0.05058	N	-0.91964373721161	0.10383	0.4959058	-0.826278423357771	0.13859	0.7212081	9.41714521446526E-6	0.01202	0.651	0.46895	0	0.601575	0.49859	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.43	0.592	0.16654	-1.134000	0.03340	-0.802000	0.07370	-0.230000	0.07744	0.000000	0.06391	0.000000	0.08366	0.981000	0.58702	0.1262:0.4481:0.0:0.4257	5.636	0.16811	582	0.69555	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.005035	0.000000	0.002717	0.008772	0.000000	0.017241	0.006098	0.003788	0.07143	222.63	34	chr6	84171654	.	C	T	222.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.035;DP=204;ExcessHet=0;FS=1.348;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=6.36;ReadPosRankSum=0.256;SOR=0.704	GT:AD:DP:GQ:PL	0/1:22,13:35:99:233,0,455	6	0	1	0
chr6	105278232	105278232	G	A	exonic	PREP	.	nonsynonymous SNV	PREP:NM_002726:exon15:c.C2045T:p.A682V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.375	0.0488152020125	.	0.000399361	1.648e-05	0	0	0.0001	0	0	0	6.056e-05	2.59e-05	4	154602	rs201327468	8.209e-06	8.209e-06	6.806e-06	9.625e-06	0.0002	4.38e-06	3.46e-06	2.374e-05	1.258e-05	8.961e-05	0	0	2.519e-05	1.872e-05	0.0002	4.496e-06	1.656e-05	0	1.313e-05	1.312e-05	1.285e-05	1.342e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0.0002	0	0	0	0	0.0002	0.005	0.63226	D	0.01	0.65728	D	0.998	0.73220	D	0.827	0.59428	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.78	0.81115	M	1.63	0.28002	T	-3.05	0.62976	D	0.722	0.72388	-0.5103	0.68275	T	0.213	0.57428	T	10	0.64349335	0.69192	D	0.048815	0.63540	D	0.375	0.69358	.	.	0.151262610727	0.14761	.	.	1.1756045138	0.79867	0.68790179491	0.65404	T	0.299694	0.67221	T	-0.0453085	0.45156	T	-0.121331	0.61693	T	0.914000630378723	0.57047	D	0.973903	0.90628	D	0.55685616	0.70336	0.41163433	0.65389	0.55685616	0.70337	0.41163433	0.65389	-10.411	0.76334	D	.	.	.	.	.	.	.	5.565779	0.92178	32	0.99940970688115316	0.99797	0.99535	0.97177	D	AEFDBI	0.893449	0.83142	D	1.0234409998694	0.96421	14.67373	0.982082482105925	0.98251	17.78609	0.999999999530438	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.91	5.91	0.95240	9.602000	0.97623	11.816000	0.97088	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:0.0:1.0:0.0	20.305	0.98628	572	0.70300	Peptidase S9, prolyl oligopeptidase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	686.53	38	chr6	105278232	.	G	A	686.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.323;DP=252;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.73;ReadPosRankSum=1.93;SOR=0.697	GT:AD:DP:GQ:PL	0/1:31,33:64:99:697,0,746	6	0	1	0
chr6	106520285	106520285	G	T	exonic	CRYBG1	.	nonsynonymous SNV	CRYBG1:NM_001624:exon2:c.G1853T:p.G618V,CRYBG1:NM_001371242:exon4:c.G3077T:p.G1026V	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.00787369350644	.	.	1.65e-05	0	8.66e-05	0	0	1.501e-05	0	0	1.29e-05	2	154602	rs753669887	1.3e-05	1.3e-05	1.089e-05	1.513e-05	0.0002	8.31e-06	6.7e-06	1.779e-05	8.93e-06	0	6.709e-05	0	0	0	0.0002	8.093e-06	9.934e-05	0	3.283e-05	3.281e-05	2.57e-05	4.029e-05	0.0001	1.26e-05	7.98e-06	2.26e-05	9.07e-06	0	0	0.0001	0	0	0	0.0034	2.94e-05	0	0	0.004	0.65419	D	0.233	0.24913	T	0.055	0.22733	B	0.005	0.11217	B	0.037264	0.01831	N	2.197070	1	0.08975	N	.	.	.	-0.59	0.71543	T	-0.97	0.25770	N	0.118	0.10769	-1.1249	0.02043	T	0.103	0.38019	T	10	0.061772168	0.07797	T	0.007874	0.20877	T	0.087	0.25287	.	.	0.535247687934	0.53173	0.22587119901890743	0.22502	0.104328026919	0.11798	0.230681210756	0.02019	T	0.010774	0.09696	T	-0.328961	0.06191	T	-0.53446	0.18844	T	0.044678776653402	0.04544	T	0.581942	0.21082	T	0.08228338	0.18948	0.052287795	0.08585	0.08228338	0.18948	0.052287795	0.08585	-2.595	0.06466	T	.	.	0.098	0.16319	B	.;.	.;.	0.348035	0.07210	3.806	0.97075840071841757	0.32260	0.08010	0.13989	N	ALL	0.068065	0.13411	N	-1.02119510436039	0.08165	0.3818704	-1.04438773255173	0.08824	0.4357827	0.999999999501957	0.74766	0.706298	0.61202	0	0.484254	0.07192	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.96	1.09	0.19517	-0.059000	0.11688	-0.439000	0.09172	-0.233000	0.07663	0.000000	0.06391	0.000000	0.08366	0.100000	0.18284	0.2368:0.153:0.47:0.1402	1.667	0.02636	862	0.33134	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1115.44	40	chr6	106520285	.	G	T	1115.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.724;DP=340;ExcessHet=0;FS=0.83;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.44;ReadPosRankSum=-0.588;SOR=0.586	GT:AD:DP:GQ:PL	0/1:36,47:83:99:1126,0,818	6	0	1	0
chr6	107634459	107634459	A	G	exonic	SOBP	.	nonsynonymous SNV	SOBP:NM_018013:exon6:c.A1615G:p.I539V	Mental retardation, anterior maxillary protrusion, and strabismus, Autosomal recessive	6	1455	54	7	0	68	0.0228341	.	.	.	135807	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.142	.	0.0037	0.0105831	0.0073	0.0074	0.0063	0.0092	0.0011	0.0042	0.0143	0.0208	0.0063389	980	154602	rs146747167	0.0044	0.0044	0.0039	0.0050	0.0276	0.0043	0.0043	0.0241	0.0227	0.0065	0.0066	0.0144	0.0147	0.0007	0.0276	0.0023	0.0071	0.0205	0.0061	0.0061	0.0059	0.0062	0.0203	0.0058	0.0056	0.0170	0.0158	0.0073	0	0.0115	0.0174	0.0095	0.0002	0.0171	0.0032	0.0086	0.0203	0.01	0.56456	D	0.162	0.31225	T	0.978	0.58756	D	0.968	0.71741	D	0.000055	0.53742	D	0.071526	0.99999	0.58761	D	1.52	0.38360	L	1.03	0.40469	T	-0.55	0.16799	N	0.505	0.53708	-1.0149	0.25368	T	0.102	0.37568	T	10	0.008447349	0.00191	T	.	.	.	0.142	0.37995	.	.	0.115124310173	0.11017	0.5404988772062471	0.53974	.	.	0.703159928322	0.67601	T	0.117586	0.43778	T	-0.388018	0.02770	T	-0.315201	0.43099	T	0.0261456943927532	0.01425	T	0.887811	0.61653	D	0.14428282	0.33124	0.14668486	0.34743	0.14428282	0.33124	0.14668486	0.34742	-7.12	0.54904	T	.	.	0.179	0.38994	B	.	.	3.774690	0.54236	23.5	0.99785662079997073	0.87219	0.97112	0.72760	D	AEFDBI	0.851424	0.76828	D	0.436393661146034	0.63436	4.577202	0.427861838613394	0.63305	4.561854	0.999999999992883	0.74766	0.652421	0.48094	0	0.596491	0.49125	0	0.64067	0.45733	0	0.604282	0.37693	0	.	.	4.1	4.1	0.47196	6.628000	0.74125	10.844000	0.83917	0.656000	0.54149	1.000000	0.71638	1.000000	0.68203	0.662000	0.33024	1.0:0.0:0.0:0.0	13.279	0.59638	731	0.54177	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.019134	0.030303	0.023098	0.008772	0.000000	0.008621	0.006098	0.018939	0.07143	291.46	33	chr6	107634459	.	A	G	291.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.235;DP=213;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.33;ReadPosRankSum=-0.581;SOR=0.511	GT:AD:DP:GQ:PL	0/1:22,13:35:99:302,0,549	6	0	1	0
chr6	109150201	109150201	A	G	exonic	CEP57L1	.	nonsynonymous SNV	CEP57L1:NM_001350661:exon3:c.A10G:p.N4D,CEP57L1:NM_001350662:exon3:c.A10G:p.N4D,CEP57L1:NM_001350663:exon3:c.A10G:p.N4D,CEP57L1:NM_001271852:exon4:c.A424G:p.N142D,CEP57L1:NM_001271853:exon4:c.A424G:p.N142D,CEP57L1:NM_001350654:exon4:c.A424G:p.N142D,CEP57L1:NM_001350656:exon4:c.A424G:p.N142D,CEP57L1:NM_001350660:exon4:c.A10G:p.N4D,CEP57L1:NM_001350664:exon4:c.A10G:p.N4D,CEP57L1:NM_001350666:exon4:c.A376G:p.N126D,CEP57L1:NM_173830:exon4:c.A424G:p.N142D,CEP57L1:NM_001350652:exon5:c.A424G:p.N142D,CEP57L1:NM_001350655:exon5:c.A424G:p.N142D,CEP57L1:NM_001350657:exon5:c.A424G:p.N142D,CEP57L1:NM_001350659:exon5:c.A376G:p.N126D,CEP57L1:NM_001350665:exon5:c.A424G:p.N142D,CEP57L1:NM_001083535:exon6:c.A424G:p.N142D,CEP57L1:NM_001350653:exon6:c.A424G:p.N142D,CEP57L1:NM_001350658:exon6:c.A424G:p.N142D	.	516	1003	3	0	0	3	0.00149328	.	.	.	3947970	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.354	0.0770145388804	.	.	3.3e-05	0	0	0	0	1.501e-05	0	0.0002	2.59e-05	4	154602	rs774211869	5.496e-05	5.678e-05	5.198e-05	5.797e-05	0.0004	4.496e-05	4.165e-05	0.0003	0.0002	0	0	0	0	0	0.0002	4.067e-05	3.326e-05	0.0004	5.251e-05	5.249e-05	1.285e-05	9.397e-05	0.0010	2.555e-05	1.829e-05	0.0004	0.0003	2.405e-05	0	0	0	0	0	0	2.94e-05	0	0.0010	0.034	0.45756	D	0.094	0.51737	T	0.998	0.73220	D	0.929	0.71173	D	0.000082	0.51296	D	0.230201	0.839058	0.35037	D	2.045	0.56016	M	0.89	0.76430	T	-3.43	0.70191	D	0.452	0.49783	0.008	0.82411	D	0.464	0.79284	T	10	0.5962458	0.66658	D	0.077015	0.72669	D	0.354	0.67510	.	.	0.825815464524	0.82416	0.21213690567554733	0.21129	0.303287657907	0.32650	0.634644925594	0.57804	T	0.158351	0.50133	T	-0.308285	0.07899	T	-0.380283	0.35689	T	0.869776666164398	0.51970	D	0.842116	0.55722	T	0.3615976	0.57957	0.3780781	0.62893	0.3615976	0.57958	0.3780781	0.62893	-5.82	0.44748	T	.	.	0.293	0.58680	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	3.962456	0.58130	23.9	0.99780903722340686	0.86780	0.94029	0.59899	D	AEFBI	0.743202	0.68658	D	0.598367025493886	0.73071	5.906855	0.597484767125712	0.74757	6.191971	0.0413928077412656	0.14482	0.638212	0.43195	0	0.670034	0.63936	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.35	5.35	0.76297	5.238000	0.65190	11.052000	0.85313	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	1.0:0.0:0.0:0.0	14.982	0.70973	803	0.44167	Cep57 centrosome localisation domain;Cep57 centrosome localisation domain;Cep57 centrosome localisation domain;Cep57 centrosome localisation domain;Cep57 centrosome localisation domain;Cep57 centrosome localisation domain;Cep57 centrosome localisation domain;Cep57 centrosome localisation domain;Cep57 centrosome localisation domain;.;Cep57 centrosome localisation domain;Cep57 centrosome localisation domain;Cep57 centrosome localisation domain;Cep57 centrosome localisation domain;Cep57 centrosome localisation domain;Cep57 centrosome localisation domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	269.49	34	chr6	109150201	.	A	G	269.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.846;DP=189;ExcessHet=0;FS=1.707;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.25;ReadPosRankSum=1.3;SOR=0.368	GT:AD:DP:GQ:PL	0/1:8,14:22:99:280,0,163	6	0	1	0
chr6	116253777	116253777	C	T	exonic	TSPYL4	.	nonsynonymous SNV	TSPYL4:NM_021648:exon1:c.G232A:p.A78T	.	429	1041	49	3	0	55	0.025737	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	.	0.0044	0.0129792	0.0229	0.0009	0.0059	0.0071	0.0325	0.0139	0.0450	0.0669	0.0106984	1654	154602	rs149060725	0.0084	0.0084	0.0070	0.0097	0.0493	0.0082	0.0082	0.0481	0.0476	0.0008	0.0025	0.0255	0.0057	0.0167	0.0155	0.0049	0.0100	0.0493	0.0068	0.0068	0.0056	0.0080	0.0493	0.0064	0.0063	0.0441	0.0422	0.0009	0.0011	0.0030	0.0274	0.0052	0.0183	0.0068	0.0055	0.0080	0.0493	0.305	0.14256	T	0.207	0.26969	T	0.161	0.28372	B	0.118	0.32088	B	.	.	.	.	1	0.08975	N	2.175	0.60977	M	1.77	0.25841	T	-0.83	0.22727	N	0.022	0.00372	-0.9894	0.32753	T	0.025	0.10643	T	9	0.0021468103	0.00031	T	.	.	.	0.008	0.00669	.	.	.	.	0.09797772909747697	0.09728	0.363409992902	0.37971	0.496496468782	0.38339	T	0.013936	0.11958	T	-0.631555	0.00093	T	-0.643456	0.09419	T	0.00689910877604376	0.00078	T	0.455254	0.13018	T	0.028059915	0.02088	0.05842673	0.10794	0.028059915	0.02087	0.05842673	0.10793	-4.297	0.28135	T	.	.	0.075	0.05535	B	.	.	0.426294	0.07970	4.680	0.96140950977137662	0.28835	0.02820	0.07555	N	ALL	0.065604	0.12805	N	-0.80031155198662	0.13302	0.6543555	-0.899478280885214	0.12106	0.6208205	0.999999751623875	0.74766	0.441713	0.08003	0	0.484254	0.07192	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	4.08	1.13	0.19758	-0.143000	0.10278	0.963000	0.23005	0.524000	0.24156	0.000000	0.06391	0.441000	0.24904	0.126000	0.19410	0.1841:0.4163:0.3996:0.0	6.892	0.23415	559	0.71409	.	.	.	.	.	rs149060725	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.016162	0.015306	0.013587	0.000000	0.000000	0.017241	0.006173	0.045455	0.1429	814.24	44	chr6	116253777	.	C	T	814.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.999;DP=379;ExcessHet=0.3476;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=8.95;ReadPosRankSum=-0.707;SOR=0.771	GT:AD:DP:GQ:PL	0/1:49,30:79:99:677,0,1159	5	0	2	0
chr6	121292069	121292069	C	A	exonic	TBC1D32	.	nonsynonymous SNV	TBC1D32:NM_001367760:exon12:c.G1356T:p.K452N,TBC1D32:NM_152730:exon12:c.G1356T:p.K452N,TBC1D32:NM_001367759:exon13:c.G1356T:p.K452N	.	580	940	2	0	0	2	0.0010627	.	.	.	2829602	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.102	0.0110713668723	8.6e-05	.	7.041e-05	0	0.0003	0	0	8.054e-05	0	0	7.12e-05	11	154602	rs369009845	8.846e-05	9.44e-05	8.028e-05	9.674e-05	0.0004	7.556e-05	7.096e-05	0.0001	8.53e-05	6.186e-05	0.0002	0	0	0	0.0004	8.364e-05	0.0001	0.0002	9.21e-05	9.196e-05	7.714e-05	0.0001	0.0001	5.534e-05	4.369e-05	5.845e-05	4.242e-05	7.243e-05	0	0.0001	0	0	0	0	0.0001	0.0005	0	0.145	0.25154	T	0.03	0.54159	D	0.992	0.64738	D	0.795	0.57940	P	0.000115	0.50451	D	0.170984	0.902277	0.36201	D	2.38	0.68558	M	1.78	0.25678	T	-1.83	0.42957	N	0.339	0.38027	-1.0989	0.04227	T	0.062	0.25744	T	10	0.16288316	0.30514	T	0.011071	0.28311	T	0.102	0.29158	0.39	0.41279	0.405560941015	0.40167	0.21220673859131076	0.21136	0.2501032942	0.27591	.	.	.	0.07007	0.33869	T	-0.400849	0.02286	T	-0.534133	0.18876	T	0.354783952236176	0.27205	T	0.867113	0.56785	D	0.107198134	0.25348	0.15424585	0.36210	0.107198134	0.25348	0.15424585	0.36209	-1.995	0.03347	T	.	.	0.230	0.46214	B	.;.	.;.	3.074210	0.41330	21.3	0.99867993887253859	0.94547	0.82884	0.42053	D	AEFI	0.197763	0.32466	N	0.377621285722357	0.60211	4.207597	0.342079867931801	0.58033	3.971527	2.22691276645827E-5	0.03498	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	5.9	2.75	0.31439	1.017000	0.29591	0.390000	0.17879	0.599000	0.40250	1.000000	0.71638	0.419000	0.24798	0.997000	0.79791	0.1093:0.6899:0.0:0.2008	8.97	0.35063	743	0.52768	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	156.27	29	chr6	121292069	.	C	A	156.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.227;DP=178;ExcessHet=0;FS=2.158;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.42;ReadPosRankSum=-1.495;SOR=1.609	GT:AD:DP:GQ:PL	0/1:8,7:15:99:166,0,187	5	0	1	1
chr6	125229167	125229167	G	A	exonic	TPD52L1	.	nonsynonymous SNV	TPD52L1:NM_001003395:exon3:c.G98A:p.R33K,TPD52L1:NM_001003396:exon3:c.G185A:p.R62K,TPD52L1:NM_001003397:exon3:c.G185A:p.R62K,TPD52L1:NM_001292026:exon3:c.G98A:p.R33K,TPD52L1:NM_001300994:exon3:c.G185A:p.R62K,TPD52L1:NM_001318903:exon3:c.G185A:p.R62K,TPD52L1:NM_001318907:exon3:c.G98A:p.R33K,TPD52L1:NM_003287:exon3:c.G185A:p.R62K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.106	.	0.0046	0.00459265	0.0012	0.0137	0.0004	0	0	3.003e-05	0	0	0.0012354	191	154602	rs6905231	0.0004	0.0004	0.0005	0.0004	0.0140	0.0004	0.0004	0.0129	0.0125	0.0140	0.0008	0	0	0	0.0010	2.879e-05	0.0010	0	0.0039	0.0039	0.0038	0.0040	0.0130	0.0036	0.0035	0.0121	0.0118	0.0130	0	0.0026	0	0	0	0.0102	2.94e-05	0.0028	0	0.671	0.05808	T	0.967	0.02961	T	0.001	0.07471	B	0.003	0.08700	B	0.000000	0.84330	D	0.042042	0.760247	0.29546	N	-0.25	0.03863	N	2.81	0.10975	T	0.28	0.07882	N	0.138	0.13626	-0.9062	0.47308	T	0.003	0.01092	T	10	0.00850904	0.00193	T	.	.	.	0.106	0.30130	.	.	0.124217242631	0.12060	0.22435078041691697	0.22350	0.445439590929	0.44433	0.461596697569	0.33529	T	0.01099	0.16335	T	-0.629661	0.00096	T	-0.664917	0.07938	T	0.0111601650276108	0.00163	T	0.792521	0.46941	T	0.097018965	0.22863	0.10154748	0.24314	0.097018965	0.22862	0.10154748	0.24313	-3.61	0.36403	T	.	.	0.058	0.04119	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	1.961961	0.24919	16.57	0.91651042088863732	0.20939	0.77188	0.37924	D	AEFDBIJ	0.511818	0.54029	D	-0.429738424448356	0.24431	1.319176	-0.192451702055162	0.31812	1.803921	0.997920346987595	0.36199	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.41	3.26	0.36471	3.031000	0.49417	3.810000	0.39905	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.4414:0.0:0.5586:0.0	4.419	0.10899	921	0.19240	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.005051	0.002717	0.011696	0.000000	0.000000	0.000000	0.000000	0.07143	426.53	34	chr6	125229167	.	G	A	426.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.094;DP=221;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.27;ReadPosRankSum=-0.22;SOR=0.56	GT:AD:DP:GQ:PL	0/1:24,22:46:99:437,0,586	6	0	1	0
chr6	129393070	129393070	G	A	exonic	LAMA2	.	nonsynonymous SNV	LAMA2:NM_000426:exon37:c.G5260A:p.V1754M,LAMA2:NM_001079823:exon37:c.G5260A:p.V1754M	Muscular dystrophy, congenital merosin-deficient, Autosomal recessive;Muscular dystrophy, congenital, due to partial LAMA2 deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.376	0.0444655069319	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.737e-06	3.42e-06	1.362e-06	4.126e-06	0.0001	6.4e-07	4.3e-07	3.983e-05	2.374e-05	0.0001	0	0	0	0	0	0	0	0	1.315e-05	1.314e-05	1.285e-05	1.346e-05	4.827e-05	2.18e-06	8.2e-07	8e-06	2.99e-06	4.827e-05	0	0	0	0	0	0	0	0	0	0.003	0.68238	D	.	.	.	1.0	0.90584	D	0.999	0.92359	D	0.000001	0.84330	D	0.000000	0.999481	0.47237	D	2.485	0.72352	M	0.79	0.49068	T	-2.3	0.51157	N	0.682	0.71143	-0.8615	0.51155	T	0.143	0.46550	T	10	0.7876678	0.78386	D	0.044466	0.61502	D	0.376	0.69443	0.537	0.64730	0.546736107678	0.54328	0.37258434366134296	0.37172	0.470433313349	0.46317	0.531397461891	0.43232	T	0.032722	0.40951	T	-0.0430453	0.45497	T	-0.299608	0.44767	T	0.976055681705475	0.71208	D	0.848015	0.52922	T	0.2976442	0.52692	0.41209745	0.65422	0.2976442	0.52692	0.41209745	0.65423	-5.322	0.40160	T	0.6525604153290325	0.72491	0.224	0.45532	B	.;.;.	.;.;.	3.909213	0.56999	23.8	0.99883655523635595	0.95892	0.97489	0.75080	D	AEFDBI	0.878090	0.80313	D	0.428719168083162	0.63008	4.526423	0.388967087753396	0.60882	4.281191	0.168059229038432	0.17694	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.52	4.65	0.57626	7.272000	0.77907	8.570000	0.77602	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.049000	0.15107	0.0718:0.0:0.9282:0.0	14.171	0.65049	883	0.28872	Laminin alpha, domain I;Laminin alpha, domain I;Laminin alpha, domain I	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	171.27	11	chr6	129393070	.	G	A	171.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.25;DP=123;ExcessHet=0;FS=8.929;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.01;ReadPosRankSum=-0.395;SOR=3.126	GT:AD:DP:GQ:PL	0/1:13,6:19:99:181,0,313	5	0	1	1
chr6	131708878	131708878	A	G	exonic	CTAGE9	.	nonsynonymous SNV	CTAGE9:NM_001145659:exon1:c.T2140C:p.F714L	.	.	.	.	.	.	.	.	.	.	.	3426192	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.048	0.00807219457085	.	.	.	.	.	.	.	.	.	.	.	.	.	rs898403898	1.369e-06	1.369e-06	2.725e-06	0	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	0	1.658e-05	0	6.744e-06	6.615e-06	0	1.381e-05	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0005	0	0.012	0.54683	D	0.712	0.05488	T	0.268	0.31720	B	0.187	0.36167	B	.	.	.	.	1	0.08975	N	2.72	0.79541	M	3.38	0.05778	T	-1.94	0.45042	N	0.079	0.05414	-0.9635	0.38507	T	0.011	0.03949	T	6	0.12795904	0.24338	T	0.008072	0.21393	T	0.048	0.13305	0.426	0.47185	0.0666544352282	0.05500	0.1378565792480481	0.13709	.	.	0.588655352592	0.51304	T	0.067415	0.33196	T	-0.334972	0.05745	T	-0.71894	0.04847	T	0.165560904952844	0.18273	T	0.808919	0.45897	T	0.15243886	0.34605	0.3018385	0.56215	0.15243886	0.34604	0.3018385	0.56215	-3.329	0.14113	T	.	.	0.719	0.73763	P	.	.	1.619812	0.20688	14.87	0.81047614322779293	0.13494	0.00215	0.01220	N	AEFI	0.046014	0.07591	N	-0.538160230853158	0.20857	1.102619	-0.69074723615822	0.17191	0.913005	7.69288211797132E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	.	.	.	0.727000	0.25667	0.497000	0.18957	.	.	0.856000	0.30544	0.000000	0.08366	.	.	.	.	.	878	0.29785	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	919.44	35	chr6	131708878	.	A	G	919.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.047;DP=284;ExcessHet=0;FS=0.818;MLEAC=1;MLEAF=0.071;MQ=38.34;MQRankSum=-0.603;QD=10.82;ReadPosRankSum=0.387;SOR=0.833	GT:AD:DP:GQ:PL	0/1:42,43:85:99:930,0,954	6	0	1	0
chr6	132553585	132553585	G	A	exonic	TAAR8	.	nonsynonymous SNV	TAAR8:NM_053278:exon1:c.G893A:p.S298N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.00605076619882	.	.	.	.	.	.	.	.	.	.	.	.	.	rs968860017	6.841e-07	6.84e-07	0	1.375e-06	2.987e-05	0	0	.	.	2.987e-05	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.065	0.44702	T	0.045	0.21781	B	0.041	0.23986	B	0.396835	0.04510	N	1.471300	1	0.08975	N	0.345	0.11182	N	1.2	0.37405	T	-1.1	0.28497	N	0.122	0.11340	-0.9709	0.37009	T	0.026	0.11264	T	10	0.063779116	0.08360	T	0.006051	0.15816	T	0.062	0.17934	0.496	0.58520	0.0954503805726	0.09146	0.09947565960018886	0.09878	0.0523639004984	0.05764	0.228781312704	0.01879	T	0.01684	0.13845	T	-0.223905	0.17464	T	-0.5594	0.16432	T	0.217411801218987	0.21334	T	0.645735	0.25721	T	0.29303277	0.52273	0.16501833	0.38196	0.29303277	0.52273	0.16501833	0.38196	-6.407	0.49564	T	.	.	0.336	0.55665	B	.	.	0.373679	0.07458	4.095	0.81331202458039487	0.13633	0.27679	0.23345	N	AEFBI	0.146211	0.26960	N	-1.18619867761781	0.05208	0.2368775	-1.31363110514335	0.04253	0.2002167	0.0176837739336784	0.12978	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.58	-6.9	0.01496	1.318000	0.33249	-14.199000	0.00416	0.651000	0.53179	0.002000	0.15269	0.000000	0.08366	0.008000	0.08271	0.0:0.161:0.1286:0.7104	12.880	0.57402	817	0.41665	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	820.44	34	chr6	132553585	.	G	A	820.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.332;DP=260;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.62;ReadPosRankSum=1.37;SOR=0.586	GT:AD:DP:GQ:PL	0/1:29,36:65:99:831,0,658	6	0	1	0
chr6	132588911	132588911	C	A	exonic	TAAR5	.	nonsynonymous SNV	TAAR5:NM_003967:exon1:c.G776T:p.G259V	.	.	.	.	.	.	.	.	.	.	.	3335060	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.203	0.00892687749745	.	.	8.244e-06	0	0	0	0	0	0	6.058e-05	6.5e-06	1	154602	rs775816647	6.157e-06	6.156e-06	2.722e-06	9.626e-06	0.0002	2.9e-06	2.1e-06	9.75e-05	6.95e-05	0.0002	0	0	0	0	0	0	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.539	0.06824	T	0.478	0.11968	T	0.238	0.30817	B	0.142	0.33681	B	0.002250	0.36929	N	0.169319	1	0.81001	D	2.265	0.64440	M	1.34	0.34841	T	-2.35	0.51968	N	0.384	0.42541	-0.9736	0.36431	T	0.084	0.32986	T	10	0.18919772	0.34509	T	0.008927	0.23535	T	0.203	0.48915	0.598	0.72862	0.473538153929	0.46983	0.6309745598591476	0.63031	0.078622320537	0.08843	0.306034773588	0.11308	T	0.069965	0.33842	T	-0.267289	0.12061	T	-0.440191	0.28786	T	0.396890074014664	0.28825	T	0.887111	0.61484	D	0.35646185	0.57565	0.26755232	0.52614	0.35646185	0.57566	0.26755232	0.52613	-6.183	0.47785	T	.	.	0.186	0.40197	B	.	.	1.729493	0.22013	15.44	0.99440193894119699	0.64720	0.36617	0.25574	N	AEFBI	0.224036	0.34832	N	-0.123834844371072	0.36356	2.100384	-0.104955658088785	0.35191	2.032981	0.984021852598444	0.30651	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.58	3.73	0.41982	0.609000	0.23935	-0.394000	0.09455	0.596000	0.33519	0.003000	0.16062	0.000000	0.08366	0.887000	0.42601	0.2559:0.744:0.0:0.0	15.141	0.72291	864	0.32732	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	778.44	46	chr6	132588911	.	C	A	778.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.865;DP=266;ExcessHet=0;FS=2.064;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.16;ReadPosRankSum=-0.624;SOR=0.959	GT:AD:DP:GQ:PL	0/1:31,33:66:99:789,0,808	6	0	1	0
chr6	139262592	139262592	T	C	exonic	TXLNB	.	nonsynonymous SNV	TXLNB:NM_153235:exon5:c.A869G:p.E290G	.	427	1093	2	0	0	2	0.000914077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.495	0.0331145429749	.	.	8.348e-06	0	0	0	0	1.509e-05	0	0	1.29e-05	2	154602	rs200850808	1.3e-05	1.3e-05	9.53e-06	1.65e-05	0.0005	8.31e-06	6.7e-06	0.0001	7.544e-05	0	2.238e-05	0	0	0	0.0005	1.169e-05	3.312e-05	0	6.571e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.001	0.78490	D	0.007	0.69154	D	1.0	0.90584	D	0.99	0.78936	D	0.000000	0.84330	D	0.045183	0.999747	0.48716	D	2.83	0.82355	M	1.19	0.37578	T	-5.24	0.83967	D	0.754	0.75283	-0.2437	0.76529	T	0.368	0.72780	T	9	0.78573096	0.78230	D	0.033115	0.54755	D	0.495	0.78036	0.508	0.60386	0.547979623877	0.54453	0.34804737610427516	0.34718	0.468981545237	0.46220	0.677969932556	0.63977	T	0.089944	0.38481	T	0.104321	0.64757	D	-0.087927	0.64319	T	0.996248185634613	0.88951	D	0.836816	0.50885	T	0.7365527	0.80095	0.79620296	0.88032	0.7365527	0.80097	0.79620296	0.88033	-7.127	0.54955	T	.	.	0.846	0.79536	P	.	.	5.509993	0.91672	32	0.99903006960127638	0.97426	0.96527	0.69585	D	AEFDGBCIJ	0.954575	0.97177	D	0.555774487165403	0.70435	5.501022	0.601788835457115	0.75068	6.245855	0.999999999999934	0.74766	0.487112	0.14033	0	0.480063	0.06835	0	0.491513	0.07944	0	0.564101	0.26826	0	.	.	5.63	5.63	0.86108	7.897000	0.85944	6.183000	0.54660	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.0:1.0	15.838	0.78596	536	0.73233	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.001359	0.005848	0.000000	0.000000	0.003049	0.000000	0.07143	640.49	36	chr6	139262592	.	T	C	640.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.087;DP=225;ExcessHet=0;FS=1.238;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.23;ReadPosRankSum=-0.979;SOR=0.399	GT:AD:DP:GQ:PL	0/1:21,24:45:99:651,0,532	6	0	1	0
chr6	148548500	148548500	G	T	exonic	SASH1	.	nonsynonymous SNV	SASH1:NM_001346507:exon13:c.G2969T:p.R990I,SASH1:NM_001346508:exon13:c.G3458T:p.R1153I,SASH1:NM_001346509:exon13:c.G3335T:p.R1112I,SASH1:NM_001346505:exon20:c.G3551T:p.R1184I,SASH1:NM_015278:exon20:c.G3686T:p.R1229I,SASH1:NM_001346506:exon21:c.G3314T:p.R1105I	.	437	1084	1	0	0	1	0.000461042	.	.	.	699366	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.306	.	0.0088	0.0109824	0.0027	0.0265	0.0023	0	0	0.0003	0.0056	0.0001	0.0026778	414	154602	rs61996289	0.0011	0.0011	0.0011	0.0010	0.0277	0.0010	0.0010	0.0262	0.0256	0.0277	0.0019	0.0013	0	0	0.0059	0.0002	0.0030	0.0002	0.0075	0.0075	0.0076	0.0073	0.0255	0.0071	0.0070	0.0242	0.0237	0.0255	0	0.0031	0.0023	0	0	0.0034	0.0002	0.0033	0	0.003	0.68238	D	0.016	0.60972	D	0.427	0.35524	B	0.185	0.36047	B	0.000673	0.42516	D	0.257624	0.999986	0.54805	D	1.195	0.30194	L	-2.07	0.85943	D	-2.05	0.47008	N	0.148	0.18784	-0.5511	0.66745	T	0.285	0.65665	T	10	0.0075474977	0.00171	T	.	.	.	0.306	0.62729	.	.	0.89600254552	0.89497	0.5609210872077474	0.56019	0.369694341272	0.38498	0.371209472418	0.21006	T	0.041134	0.25758	T	-0.392972	0.02574	T	-0.316304	0.42979	T	0.0346698785293855	0.02752	T	0.878912	0.59457	D	0.109509625	0.25890	0.17862569	0.40544	0.14806776	0.33819	0.17864294	0.40545	-8.818	0.66518	D	0.2404497818916538	0.32568	0.230	0.53261	B	.;.	.;.	3.091358	0.41625	21.4	0.97107006766431436	0.32392	0.97090	0.72631	D	AEFDBIJ	0.243533	0.36480	N	-0.178670257558677	0.34025	1.937096	-0.0908496607956728	0.35767	2.073244	0.999873481471847	0.44625	0.706548	0.73137	0	0.563428	0.19063	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.36	2.57	0.29928	2.315000	0.43412	1.484000	0.26842	-0.153000	0.12021	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.2118:0.1312:0.6571:0.0	6.365	0.20654	961	0.08552	Sterile alpha motif domain|Sterile alpha motif domain|Sterile alpha motif domain|SASH1, SAM domain repeat 2;Sterile alpha motif domain|Sterile alpha motif domain|Sterile alpha motif domain|SASH1, SAM domain repeat 2	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.012588	0.015152	0.024457	0.008772	0.000000	0.025862	0.003049	0.000000	0.07143	228.49	34	chr6	148548500	.	G	T	228.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.092;DP=211;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.16;ReadPosRankSum=1.12;SOR=0.542	GT:AD:DP:GQ:PL	0/1:16,12:28:99:239,0,343	6	0	1	0
chr6	149378547	149378547	A	G	exonic	TAB2	.	nonsynonymous SNV	TAB2:NM_001292034:exon3:c.A632G:p.N211S,TAB2:NM_001292035:exon3:c.A536G:p.N179S,TAB2:NM_001369506:exon4:c.A632G:p.N211S,TAB2:NM_015093:exon5:c.A632G:p.N211S	Congenital heart defects, nonsyndromic, 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.289	0.0174232180529	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.097e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.279	0.15561	T	0.308	0.19845	T	0.993	0.65571	D	0.956	0.69739	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.135	0.59519	M	-0.73	0.73100	T	-0.76	0.21215	N	0.832	0.82761	-0.6069	0.64532	T	0.286	0.65763	T	10	0.41120163	0.56237	T	0.017423	0.39111	T	0.289	0.60808	0.142	0.04556	0.838873866338	0.83733	0.5868442608649261	0.58614	0.921335754619	0.71472	0.701119542122	0.67305	T	0.222447	0.58630	T	-0.0361796	0.46514	T	-0.289746	0.45798	T	0.672599494457245	0.39454	D	0.943606	0.78679	D	0.07764685	0.17636	0.09442277	0.22350	0.07764685	0.17635	0.09442277	0.22350	-3.035	0.10563	T	0.6447677205311815	0.71602	0.165	0.36335	B	.;.;.	.;.;.	3.080831	0.41449	21.4	0.94975233418001004	0.25908	0.99224	0.93061	D	AEGBI	.	.	.	0.18399020640354	0.50429	3.23311	0.184305151337975	0.48988	3.107472	0.999995086728048	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.96	4.81	0.61401	8.718000	0.91150	11.270000	0.91373	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.965000	0.52897	0.9329:0.0:0.0671:0.0	12.018	0.52617	761	0.50382	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	183.05	34	chr6	149378547	.	A	G	183.05	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-6.484;DP=811;ExcessHet=1.383;FS=167.635;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=0.27;ReadPosRankSum=1.81;SOR=10.224	GT:AD:DP:GQ:PL	0/1:91,26:117:33:33,0,1954	3	0	3	1
chr6	149969094	149969094	C	T	exonic	ULBP1	.	nonsynonymous SNV	ULBP1:NM_025218:exon3:c.C359T:p.T120I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.000786976162902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.105e-06	5.472e-06	5.445e-06	2.75e-06	5.975e-05	1.48e-06	9.7e-07	9.9e-06	3.7e-06	5.975e-05	0	0	0	0	0	2.698e-06	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.34621	T	0.067	0.44302	T	0.596	0.39217	P	0.373	0.43650	B	.	.	.	.	1	0.08975	N	.	.	.	2.97	0.09450	T	-4.47	0.77881	D	0.16	0.16725	-1.0221	0.23031	T	0.015	0.06234	T	9	0.41418418	0.56428	T	7.87E-4	0.00608	T	0.092	0.26621	0.777	0.90235	0.0762999501168	0.06990	0.22566910908815838	0.22481	0.00633001268636	0.00551	0.362179279327	0.19703	T	0.025037	0.18800	T	-0.360252	0.04115	T	-0.755253	0.03285	T	0.352132691898015	0.27103	T	0.553945	0.19167	T	0.0793845	0.18133	0.09759962	0.23237	0.0793845	0.18132	0.09759962	0.23236	-6.159	0.47590	T	.	.	0.121	0.25100	B	.	.	-0.762113	0.01183	0.057	0.93282539487678406	0.22987	0.00589	0.02644	N	AEFDBI	0.015662	0.00310	N	-1.16932157929454	0.05469	0.2494159	-1.40897239867254	0.03162	0.146937	0.0481859885983105	0.14759	0.549168	0.22868	0	0.563428	0.19063	0	0.590023	0.30420	0	0.616125	0.45549	0	.	.	2.22	-2.29	0.06419	-1.524000	0.02337	-11.725000	0.00580	-2.541000	0.00250	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1886:0.5243:0.0:0.2871	3.694	0.07888	326	0.86709	MHC class I-like antigen recognition-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	813.44	33	chr6	149969094	.	C	T	813.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.38;DP=265;ExcessHet=0;FS=5.304;MLEAC=1;MLEAF=0.071;MQ=54.73;MQRankSum=-7.247;QD=11.62;ReadPosRankSum=0.599;SOR=1.422	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:47,23:70:99:0|1:149969094_C_T:824,0,1884:149969094	6	0	1	0
chr6	150395515	150395515	C	T	exonic	IYD	.	nonsynonymous SNV	IYD:NM_001164694:exon5:c.C748T:p.P250S	Thyroid dyshormonogenesis 4, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	3208168	IYD-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.216	0.010992401059	0.0013	0.000998403	0.0005	0.0050	0	0	0	0	0	0	0.0001035	16	154602	rs75380096	0.0001	0.0001	0.0002	9.657e-05	0.0042	0.0001	0.0001	0.0036	0.0034	0.0042	0.0005	0	0	0	0.0002	0	0.0004	2.524e-05	0.0015	0.0015	0.0015	0.0015	0.0051	0.0014	0.0013	0.0045	0.0043	0.0051	0	0.0010	0	0	0	0	0	0.0028	0	0.038	0.57480	D	0.438	0.48594	T	.	.	.	.	.	.	0.284175	0.03852	N	1.655630	1	0.08975	N	.	.	.	-2.06	0.86146	D	-4.27	0.82341	D	0.095	0.09914	-0.8193	0.53978	T	0.357	0.71967	T	10	0.0057896674	0.00129	T	0.010992	0.28145	T	0.216	0.50959	.	.	0.326074293725	0.32213	0.6336104873368039	0.63295	0.0602571293545	0.06699	0.19718927145	0.00380	T	0.251328	0.62156	T	-0.471686	0.00829	T	-0.449643	0.27737	T	0.0148353492841125	0.00313	T	0.582642	0.21138	T	.	.	.	.	.	.	.	.	-3.077	0.11033	T	.	.	0.091	0.15160	B	.;.;.	.;.;.	0.514006	0.08826	5.607	0.80845113484275521	0.13396	0.02016	0.06059	N	ALL	0.058173	0.10895	N	-1.07693144195537	0.07070	0.3273607	-1.1985859624554	0.05934	0.2841637	0.99676144194687	0.34990	0.520426	0.21595	0	0.596394	0.48810	0	0.440839	0.06518	1	0.691587	0.68394	0	.	.	3.16	-0.749	0.10525	-1.302000	0.02854	-2.845000	0.03303	-0.243000	0.07376	0.000000	0.06391	0.000000	0.08366	0.083000	0.17415	0.0:0.4324:0.2014:0.3662	3.423	0.06972	923	0.18507	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.07143	335.45	33	chr6	150395515	.	C	T	335.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.507;DP=220;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.8;ReadPosRankSum=-0.838;SOR=0.622	GT:AD:DP:GQ:PL	0/1:25,18:43:99:346,0,603	6	0	1	0
chr6	152331115	152331115	C	G	exonic	SYNE1	.	nonsynonymous SNV	SYNE1:NM_033071:exon77:c.G13357C:p.V4453L,SYNE1:NM_182961:exon78:c.G13570C:p.V4524L	Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.00754825800838	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.034	0.53072	D	0.003	0.11197	B	0.004	0.10090	B	0.325020	0.14208	N	0.660669	1	0.81001	D	0.69	0.16971	N	1.38	0.34050	T	-0.86	0.23372	N	0.117	0.11340	-0.9824	0.34445	T	0.014	0.05513	T	10	0.042183667	0.02943	T	0.007548	0.20033	T	0.031	0.07369	0.323	0.30387	0.170165803431	0.16609	0.20548542717459714	0.20465	0.130822632684	0.14758	0.293257117271	0.09399	T	0.127862	0.45515	T	-0.311759	0.07593	T	-0.685596	0.06647	T	0.025374189688588	0.01322	T	0.79652	0.44001	T	0.047435828	0.08107	0.051205635	0.08193	0.047435828	0.08107	0.051205635	0.08192	-0.288	0.00468	T	.	.	0.131	0.28145	B	.;.	.;.	0.577523	0.09458	6.239	0.69415960505877994	0.08965	0.95287	0.64137	D	AEFDBI	0.517551	0.54362	D	-0.98190325063367	0.08989	0.4236828	-0.848130851139563	0.13332	0.6910612	0.0729640935166664	0.15619	0.554377	0.28877	0	0.573888	0.26702	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	6.03	0.886	0.18329	1.409000	0.34288	-0.077000	0.12225	-0.313000	0.06017	1.000000	0.71638	0.000000	0.08366	0.599000	0.31363	0.0:0.5304:0.1169:0.3527	6.318	0.20409	847	0.35998	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	45.25	107	chr6	152331115	.	C	G	45.25	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-4.043;DP=702;ExcessHet=0.4139;FS=242.021;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=0.28;ReadPosRankSum=1.07;SOR=10.035	GT:AD:DP:GQ:PL	0/1:43,18:67:25:25,0,925	4	0	2	1
chr6	152430561	152430561	C	T	exonic	SYNE1	.	nonsynonymous SNV	SYNE1:NM_033071:exon35:c.G4631A:p.R1544Q,SYNE1:NM_182961:exon35:c.G4610A:p.R1537Q	Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8, Autosomal recessive	0	1519	3	0	0	3	0.000986518	.	.	YES	265397	not_provided|not_specified|Autosomal_recessive_ataxia,_Beauce_type|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0012549,MedGen:C1853116,OMIM:610743,Orphanet:88644|MONDO:MONDO:0013071,MedGen:C2751807,OMIM:612998,Orphanet:261	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.042	.	.	0.00459265	0.0020	0	8.642e-05	0	0	0	0.0044	0.0147	0.0017723	274	154602	rs369775705	0.0010	0.0010	0.0006	0.0014	0.0154	0.0009	0.0009	0.0147	0.0145	5.974e-05	6.708e-05	0	0	1.872e-05	0	1.529e-05	0.0011	0.0154	0.0007	0.0007	0.0003	0.0010	0.0199	0.0006	0.0005	0.0167	0.0155	9.629e-05	0	0	0	0	0	0	0	0	0.0199	0.063	0.36709	T	0.18	0.30339	T	0.05	0.23728	B	0.007	0.13708	B	0.008369	0.30877	N	0.219077	0.999875	0.19925	N	1.825	0.47900	L	1.38	0.34050	T	-0.84	0.29525	N	0.199	0.44666	-1.0802	0.07310	T	0.034	0.14421	T	10	0.0023553371	0.00035	T	.	.	.	0.042	0.11227	0.355	0.35571	0.247872288689	0.24386	0.10645110168688837	0.10575	0.156741707563	0.17697	0.340836524963	0.16564	T	0.145027	0.48195	T	-0.520557	0.00437	T	-0.508197	0.21501	T	0.0343470849154286	0.02696	T	0.845215	0.52386	T	0.05114782	0.09351	0.066950254	0.13785	0.07165152	0.15878	0.06655741	0.13650	-3.795	0.20730	T	.	.	0.078	0.08560	B	.;.;.;.	.;.;.;.	2.244496	0.28667	17.87	0.95833411657822887	0.27944	0.58246	0.30590	D	AEFI	0.170729	0.29766	N	-0.495052428093416	0.22242	1.186264	-0.313299980749638	0.27668	1.536949	0.00224826414310906	0.09262	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.66	3.88	0.43959	2.561000	0.45567	1.063000	0.23738	-0.171000	0.11205	0.923000	0.32050	0.001000	0.17328	0.861000	0.40843	0.0:0.7801:0.0:0.2199	9.316	0.37097	747	0.52260	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003021	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.011364	0.07143	581.63	33	chr6	152430561	.	C	T	581.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.493;DP=263;ExcessHet=0;FS=3.137;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.46;ReadPosRankSum=-0.021;SOR=1.092	GT:AD:DP:GQ:PL	0/1:49,29:78:99:592,0,1117	6	0	1	0
chr6	156779305	156779305	-	GGCGGG	exonic	ARID1B	.	nonframeshift insertion	ARID1B:NM_001374820:exon1:c.1625_1626insGGCGGG:p.A545_A546insGA,ARID1B:NM_001374828:exon1:c.1625_1626insGGCGGG:p.A545_A546insGA,ARID1B:NM_017519:exon1:c.1625_1626insGGCGGG:p.A545_A546insGA,ARID1B:NM_001371656:exon2:c.1625_1626insGGCGGG:p.A545_A546insGA	Coffin-Siris syndrome 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	3055424	ARID1B-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs887711941	0	6.842e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	3.475e-05	3.33e-05	2.713e-05	4.277e-05	4.619e-05	1.316e-05	8.38e-06	1.226e-05	6.4e-06	0	0	0	0	0	0	0	4.619e-05	0.0010	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	95.35	5	chr6	156779305	.	C	CGGCGGG	95.35	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.21;DP=54;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.54;ReadPosRankSum=1.02;SOR=0.446	GT:AD:DP:GQ:PL	0/1:7,3:10:99:105,0,245	5	0	1	1
chr6	170561964	170561964	G	0	exonic	TBP	.	.	.	Spinocerebellar ataxia 17, Autosomal dominant	68	560	433	93	368	987	0.355952	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	5108.06	49	chr6	170561964	.	G	*	5108.06	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-0.991;DP=760;ExcessHet=0.4813;FS=1.376;MLEAC=3;MLEAF=0.214;MQ=59.96;MQRankSum=0;QD=12.83;ReadPosRankSum=2.57;SOR=0.778	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,19:31:99:1|0:170561949_GCAA_G:1652,489,368:170561949	5	1	1	0
chr7	290725	290725	C	G	exonic	FOXL3	.	nonsynonymous SNV	FOXL3:NM_001374838:exon2:c.C180G:p.D60E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1401769274	1.508e-05	0.0005	1.932e-05	1.072e-05	3.51e-05	9.85e-06	8.01e-06	1.156e-05	9.32e-06	3.51e-05	0	0	0	0	0	1.808e-05	0	0	6.573e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29690653	0.47254	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.909409	0.67928	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.248	0.48230	B	.	.	2.606792	0.33848	19.46	0.92665126009978027	0.22145	0.72915	0.35675	D	AEFDBI	.	.	.	.	.	.	.	.	.	0.999996798729429	0.74766	0.11394	0.02926	0	0.063388	0.01293	0	0.125351	0.03401	0	0.109499	0.03221	0	0.842344	0.50902	4.4	4.4	0.52402	1.910000	0.39557	1.324000	0.25623	0.445000	0.21165	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	16.969	0.86166	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2857	235.98	5	chr7	290725	.	C	G	235.98	.	AC=4;AF=0.286;AN=14;BaseQRankSum=0.189;DP=159;ExcessHet=2.5225;FS=183.453;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=2.07;ReadPosRankSum=1.23;SOR=7.742	GT:AD:DP:GQ:PL	0/1:7,12:19:18:87,0,18	3	0	4	0
chr7	5910039	5910039	G	A	exonic	CCZ1	.	nonsynonymous SNV	CCZ1:NM_015622:exon8:c.G703A:p.G235R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.699	0.0171281737155	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1331285145	6.897e-06	6.842e-06	8.241e-06	5.541e-06	5.439e-06	3.49e-06	2.54e-06	1.96e-06	1.29e-06	0	0	0	0	0	0	5.439e-06	6.67e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.007	0.69154	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	.	.	.	-6.61	0.92086	D	0.98	0.99015	-0.2910	0.75238	T	0.409	0.75824	T	9	0.9170548	0.91065	D	0.017128	0.38702	T	0.699	0.89145	0.767	0.89452	0.27064940482	0.26676	0.8920676032200314	0.89176	.	.	0.882213175297	0.94257	D	0.289475	0.66226	T	0.455493	0.92723	D	0.431994	0.93103	D	0.983792185783386	0.75330	D	.	.	.	0.75291806	0.81038	0.7848756	0.87328	0.75291806	0.81040	0.7848756	0.87329	-13.884	0.92674	D	.	.	0.995	0.95431	P	.	.	5.281102	0.88677	29.7	0.9993995418024687	0.99767	0.99081	0.90945	D	AEFGBI	0.910654	0.86885	D	0.911099315352706	0.92294	11.34084	0.92973432110744	0.96742	15.08621	0.999999998219223	0.74766	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.711	0.71501	0	.	.	6.05	6.05	0.98156	9.989000	0.99212	11.759000	0.95586	0.673000	0.70640	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	19.589	0.95496	929	0.16858	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	450.63	37	chr7	5910039	.	G	A	450.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.781;DP=232;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=58.31;MQRankSum=-1.129;QD=9.59;ReadPosRankSum=1.17;SOR=0.735	GT:AD:DP:GQ:PL	0/1:26,21:47:99:461,0,632	6	0	1	0
chr7	12380643	12380643	G	C	exonic	VWDE	.	nonsynonymous SNV	VWDE:NM_001135924:exon5:c.C632G:p.S211C,VWDE:NM_001346972:exon5:c.C632G:p.S211C,VWDE:NM_001346973:exon5:c.C167G:p.S56C	.	439	1041	40	2	0	44	0.0206961	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.317	.	0.0002	0.00299521	0.0071	0.0004	0.0024	0	0.0012	0.0005	0	0.0191	0.0012484	193	154602	rs201430222	0.0014	0.0013	0.0008	0.0019	0.0163	0.0013	0.0013	0.0155	0.0152	6.33e-05	0.0004	0.0004	2.798e-05	0.0002	0.0102	0.0004	0.0017	0.0163	0.0009	0.0009	0.0007	0.0012	0.0147	0.0008	0.0008	0.0120	0.0110	4.812e-05	0	0.0007	0.0006	0	0.0003	0.0136	0.0007	0.0019	0.0147	0.019	0.50132	D	0.015	0.61642	D	0.761	0.43566	P	0.338	0.42306	B	.	.	.	.	0.965048	0.25955	N	1.495	0.37439	L	-1.67	0.82806	D	-2.2	0.49519	N	0.162	0.17002	-0.4008	0.72001	T	0.416	0.76279	T	9	0.008293569	0.00188	T	.	.	.	0.317	0.63904	.	.	0.343334270461	0.33943	0.20029899394606046	0.19946	.	.	0.376162022352	0.21712	T	0.039527	0.25219	T	-0.420008	0.01710	T	-0.361152	0.37918	T	0.024809887274748	0.01248	T	0.578142	0.20837	T	0.16607872	0.36921	0.15976596	0.37245	0.16607872	0.36920	0.15976596	0.37244	-11.404	0.81827	D	.	.	0.167	0.36712	B	.	.	3.624016	0.51305	23.1	0.98969845649481181	0.49501	0.95695	0.65763	D	AEFBI	0.631091	0.61219	D	0.196351805118652	0.51024	3.287046	0.249341905279831	0.52612	3.434912	0.999978700190465	0.50053	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	4.98	4.98	0.65679	2.332000	0.43561	5.528000	0.48839	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.775000	0.36711	0.0:0.0:0.843:0.157	13.417	0.60423	837	0.37933	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003589	0.000000	0.000000	0.013043	0.000000	0.000000	0.005618	0.012195	0.07143	520.46	36	chr7	12380643	.	G	C	520.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.495;DP=242;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.01;ReadPosRankSum=-0.108;SOR=0.822	GT:AD:DP:GQ:PL	0/1:21,19:40:99:531,0,619	6	0	1	0
chr7	15385509	15385509	T	C	exonic	AGMO	.	nonsynonymous SNV	AGMO:NM_001004320:exon10:c.A1011G:p.I337M	.	428	1093	1	0	0	1	0.000457247	.	.	.	1327040	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.041	.	0.0036	0.00419329	0.0011	0.0125	0.0002	0	0	0	0	6.056e-05	0.0010802	167	154602	rs139340804	0.0003	0.0003	0.0004	0.0003	0.0125	0.0003	0.0003	0.0115	0.0111	0.0125	0.0003	0	0	0	0	4.498e-06	0.0007	0.0002	0.0034	0.0034	0.0034	0.0033	0.0117	0.0031	0.0030	0.0108	0.0105	0.0117	0	0.0012	0	0	0	0	1.47e-05	0.0043	0.0002	0.071	0.35165	T	0.169	0.30534	T	0.015	0.17086	B	0.02	0.19048	B	0.773770	0.09526	N	0.893189	1	0.08975	N	2.6	0.76081	M	1.46	0.32238	T	-0.96	0.25551	N	0.146	0.14763	-0.9911	0.32321	T	0.017	0.07140	T	10	0.0058701336	0.00131	T	.	.	.	0.041	0.10877	.	.	0.0762999501168	0.06990	0.44876693193443123	0.44794	0.00135318849536	0.00116	0.375132858753	0.21565	T	0.018789	0.15087	T	-0.575898	0.00204	T	-0.589626	0.13698	T	0.00796782967634361	0.00094	T	0.524848	0.17228	T	0.12716949	0.29766	0.08327982	0.19073	0.12716949	0.29766	0.08327982	0.19073	-5.475	0.41633	T	.	.	0.067	0.02578	B	.	.	-0.137257	0.03426	0.625	0.88951002453397143	0.18387	0.03741	0.09041	N	AEI	0.126572	0.24357	N	-1.05540064367255	0.07481	0.3477117	-1.16283454225122	0.06540	0.3151413	0.00251753019336998	0.09495	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.47	-5.53	0.02351	-0.616000	0.05686	-1.941000	0.04461	0.665000	0.62972	0.031000	0.20493	0.000000	0.08366	0.874000	0.41677	0.1107:0.2299:0.3388:0.3206	2.065	0.03382	918	0.19598	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.07143	432.46	34	chr7	15385509	.	T	C	432.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.69;DP=225;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.2;ReadPosRankSum=-0.217;SOR=0.713	GT:AD:DP:GQ:PL	0/1:28,19:47:99:443,0,633	6	0	1	0
chr7	16421291	16421291	G	C	exonic	CRPPA	.	nonsynonymous SNV	CRPPA:NM_001101417:exon1:c.C32G:p.P11R,CRPPA:NM_001101426:exon1:c.C32G:p.P11R,CRPPA:NM_001368197:exon1:c.C32G:p.P11R	.	12	1507	2	0	1	3	0.00066313	.	.	.	134732	Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2U|Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A,_7|not_specified|Congenital_Muscular_Dystrophy,_alpha-dystroglycan_related|CRPPA-related_disorder|not_provided	MONDO:MONDO:0014474,MedGen:C5190987,OMIM:616052,Orphanet:352479|MONDO:MONDO:0013835,MedGen:C3553330,OMIM:614643,Orphanet:899|MedGen:CN169374|MedGen:CN239202|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.408	.	.	0.00678914	0	0	0	0	.	0	.	0	0.0024205	63	26028	rs192925278	0.0006	0.0005	0.0007	0.0005	0.0230	0.0006	0.0005	0.0214	0.0207	0.0230	0.0026	0	0	0	0.0010	2.673e-05	0.0018	7.177e-05	0.0068	0.0068	0.0071	0.0065	0.0242	0.0065	0.0063	0.0229	0.0224	0.0242	0	0.0016	0	0	0	0	1.472e-05	0.0024	0	0.0	0.91255	D	0.022	0.57587	D	0.127	0.26966	B	0.056	0.26147	B	0.000087	0.51296	U	0.000000	0.898632	0.36118	D	0	0.06538	N	-2.43	0.88847	D	-1.62	0.38924	N	0.183	0.19861	-0.6596	0.62293	T	0.021	0.08732	T	10	0.0046298504	0.00097	T	.	.	.	0.408	0.72022	.	.	0.381071309025	0.37720	0.6609475744154341	0.66031	0.0619630483985	0.06898	0.731640517712	0.71746	T	0.005886	0.05335	T	-0.250449	0.14043	T	-0.116272	0.62106	T	0.394152469466043	0.28722	T	0.541246	0.18358	T	0.27932873	0.50983	0.6248159	0.78133	0.38214388	0.59471	0.5896424	0.76193	-4.328	0.28568	T	.	.	0.111	0.21390	B	.;.	.;.	3.236778	0.44165	21.9	0.99599334484809532	0.74101	0.54945	0.29741	D	AEFDBHCIJ	0.082015	0.16601	N	-0.486950985845621	0.22508	1.202313	-0.444769440701728	0.23697	1.293694	0.999999999863183	0.74766	0.437478	0.07067	0	0.491552	0.07993	0	0.606814	0.37721	0	0.249971	0.05119	0	.	.	3.97	2.99	0.33673	0.869000	0.27648	5.333000	0.48324	0.582000	0.30178	0.234000	0.24685	1.000000	0.68203	0.006000	0.07323	0.0:0.1651:0.8349:0.0	12.913	0.57586	942	0.12992	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004202	0.016667	0.000000	0.005102	0.000000	0.000000	0.000000	0.000000	0.07143	131.83	9	chr7	16421291	.	G	C	131.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.998;DP=120;ExcessHet=0;FS=2.632;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.98;ReadPosRankSum=-1.831;SOR=1.802	GT:AD:DP:GQ:PL	0/1:5,6:11:99:142,0,107	6	0	1	0
chr7	23689304	23689304	C	T	exonic	FAM221A	.	nonsynonymous SNV	FAM221A:NM_001127365:exon2:c.C101T:p.P34L,FAM221A:NM_001300932:exon2:c.C101T:p.P34L,FAM221A:NM_001127364:exon3:c.C275T:p.P92L,FAM221A:NM_199136:exon3:c.C275T:p.P92L	.	427	1088	7	0	0	7	0.0032066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.405	0.0698923609371	0.0006	0.000399361	0.0006	9.617e-05	0.0023	0	0	0.0007	0	0.0002	0.0006015	93	154602	rs146280373	0.0005	0.0005	0.0004	0.0005	0.0086	0.0004	0.0004	0.0065	0.0058	0.0004	0.0022	0.0025	0	0	0.0086	0.0003	0.0010	0.0007	0.0006	0.0006	0.0005	0.0008	0.0034	0.0005	0.0005	0.0027	0.0024	0.0002	0	0.0034	0.0017	0	0	0.0034	0.0004	0.0009	0.0002	0.03	0.72154	D	0.01	0.66756	D	1.0	0.90584	D	0.992	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.13	0.88074	M	2.26	0.17596	T	-6.08	0.90254	D	0.679	0.73285	-0.8282	0.53416	T	0.159	0.49313	T	10	0.054255247	0.05747	T	0.069892	0.70854	D	0.405	0.71791	.	.	0.319970858106	0.31615	0.5133890948224684	0.51260	0.431895095906	0.43380	0.536094248295	0.43895	T	0.068009	0.41409	T	-0.279821	0.10686	T	-0.180887	0.56441	T	0.148312047880543	0.16968	T	0.918208	0.70605	D	0.27991724	0.51040	0.32662925	0.58569	0.27991724	0.51040	0.32662925	0.58568	-5.261	0.39556	T	.	.	0.119	0.26106	B	.;.;.;.	.;.;.;.	3.980369	0.58511	24.0	0.99811133742379354	0.89531	0.98569	0.84201	D	AEFBI	0.832786	0.75110	D	0.691147521362376	0.79050	6.997086	0.579215272155648	0.73450	5.972681	0.9999999875552	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.528226	0.09195	0	.	.	5.71	5.71	0.89031	7.425000	0.79444	5.889000	0.50737	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.060000	0.15972	0.0:1.0:0.0:0.0	19.849	0.96730	683	0.59664	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.011078	0.000000	0.008152	0.017544	0.000000	0.025862	0.006098	0.015152	0.08333	190.27	31	chr7	23689304	.	C	T	190.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.278;DP=234;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.61;ReadPosRankSum=2.28;SOR=0.673	GT:AD:DP:GQ:PL	0/1:15,10:25:99:200,0,341	5	0	1	1
chr7	26185101	26185101	A	G	exonic	NFE2L3	.	nonsynonymous SNV	NFE2L3:NM_004289:exon4:c.A1403G:p.Y468C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.00593492754212	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1257538725	6.842e-07	6.84e-07	0	1.375e-06	2.519e-05	0	0	.	.	0	0	0	2.519e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.114	0.28646	T	0.149	0.32568	T	0.001	0.07471	B	0.003	0.08700	B	0.571702	0.11232	N	0.818266	1	0.08975	N	2.005	0.54552	M	1.33	0.35031	T	-3.72	0.70793	D	0.195	0.21449	-1.0279	0.21136	T	0.062	0.25815	T	10	0.091492236	0.16033	T	0.005935	0.15460	T	0.044	0.11924	0.355	0.35571	0.321951552304	0.31805	0.05371270807310095	0.05313	9.17400220826E-4	0.00079	0.274361073971	0.06717	T	0.40743	0.76305	T	-0.340087	0.05382	T	-0.55716	0.16644	T	0.0544244185099365	0.06261	T	0.687031	0.29593	T	0.10621394	0.25115	0.116848916	0.28208	0.10621394	0.25115	0.116848916	0.28208	-8.648	0.65405	D	.	.	0.086	0.10594	B	.	.	0.352089	0.07252	3.852	0.65872354562404356	0.07896	0.00159	0.00951	N	AEFDGBHCI	0.137812	0.25891	N	-0.813776083076035	0.12957	0.6350888	-0.813458185777479	0.14169	0.7390088	0.999999972103644	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.81	3.66	0.41111	0.521000	0.22601	0.468000	0.18684	0.686000	0.82685	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.677:0.1567:0.1662:0.0	4.952	0.13368	752	0.51611	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	452.53	34	chr7	26185101	.	A	G	452.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.03;DP=262;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=59.88;MQRankSum=-0.698;QD=6.03;ReadPosRankSum=-1.582;SOR=0.742	GT:AD:DP:GQ:PL	0/1:54,21:75:99:463,0,1410	6	0	1	0
chr7	30912228	30912228	G	A	exonic	AQP1	.	nonsynonymous SNV	AQP1:NM_001329872:exon1:c.G319A:p.V107I,AQP1:NM_198098:exon1:c.G319A:p.V107I	.	417	1088	15	2	0	19	0.00865604	.	.	.	1589491	not_provided|AQP1-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.378	.	0.0010	0.00439297	0.0037	0.0002	0.0010	0.0001	0	0.0014	0.0034	0.0208	0.0032794	507	154602	rs35804488	0.0023	0.0023	0.0018	0.0029	0.0197	0.0023	0.0022	0.0189	0.0186	5.974e-05	0.0008	0.0036	0	6.15e-05	0.0061	0.0012	0.0030	0.0197	0.0014	0.0015	0.0012	0.0017	0.0168	0.0013	0.0012	0.0138	0.0128	0.0003	0	0.0008	0.0029	0.0002	9.422e-05	0.0068	0.0014	0.0019	0.0168	0.402	0.10412	T	0.511	0.10785	T	0.997	0.70673	D	0.96	0.70309	D	0.000008	0.62929	D	0.063541	0.989557	0.40976	D	0.92	0.23413	L	-2.05	0.85799	D	-0.65	0.18877	N	0.36	0.40164	-0.0472	0.81266	T	0.599	0.85722	D	10	0.009975493	0.00224	T	.	.	.	0.378	0.69612	.	.	0.786091790664	0.78411	0.6611793960095894	0.66054	1.07886715441	0.77077	.	.	.	0.458022	0.79616	T	-0.295333	0.09107	T	-0.180746	0.56453	T	0.0229172142271213	0.01013	T	0.926707	0.72990	D	0.31050563	0.53830	0.20391516	0.44490	0.31050563	0.53830	0.20391516	0.44489	-6.6	0.51053	T	0.13513500408540666	0.14661	0.119	0.24396	B	.	.	3.409413	0.47284	22.4	0.99823375948302329	0.90590	0.86205	0.45441	D	AEFGBCI	0.867877	0.78780	D	0.289237498746932	0.55602	3.724261	0.33964767613929	0.57886	3.956246	0.999999963690114	0.74766	0.582742	0.33608	0	0.59043	0.45803	0	0.602189	0.34648	0	0.620976	0.48614	0	.	.	4.46	4.46	0.53567	4.791000	0.62154	9.963000	0.82809	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.952000	0.50033	0.0:0.0:1.0:0.0	15.013	0.71224	877	0.30165	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005040	0.010101	0.000000	0.000000	0.000000	0.017241	0.003049	0.018939	0.07143	345.45	33	chr7	30912228	.	G	A	345.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.73;DP=225;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.64;ReadPosRankSum=-0.154;SOR=0.836	GT:AD:DP:GQ:PL	0/1:25,15:40:99:356,0,581	6	0	1	0
chr7	36887577	36887577	T	C	exonic	ELMO1	.	nonsynonymous SNV	ELMO1:NM_001039459:exon3:c.A257G:p.N86S,ELMO1:NM_130442:exon3:c.A257G:p.N86S,ELMO1:NM_001206480:exon18:c.A1697G:p.N566S,ELMO1:NM_001206482:exon18:c.A1697G:p.N566S,ELMO1:NM_014800:exon18:c.A1697G:p.N566S	.	.	.	.	.	.	.	.	.	.	.	3957760	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.121	0.00527266604448	.	.	8.256e-06	0	0	0	0	1.501e-05	0	0	6.5e-06	1	154602	rs776212846	1.3e-05	1.3e-05	1.497e-05	1.1e-05	0.0002	8.31e-06	6.7e-06	3.983e-05	2.373e-05	0.0001	0	0	5.04e-05	0	0.0002	8.993e-06	1.656e-05	1.159e-05	3.942e-05	3.94e-05	3.854e-05	4.034e-05	0.0001	1.715e-05	1.129e-05	6.282e-05	4.299e-05	0.0001	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.000000	0.84330	D	0.044633	0.999779	0.50061	D	-1.04	0.01097	N	1.3	0.35590	T	0.46	0.03140	N	0.082	0.07262	-0.9687	0.37468	T	0.024	0.10419	T	10	0.0601604	0.07345	T	0.005273	0.13464	T	0.121	0.33580	0.289	0.24921	0.292174397486	0.28832	0.13182000497795354	0.13106	0.602164739039	0.55238	0.508613705635	0.40028	T	0.051168	0.28803	T	-0.305909	0.08114	T	-0.677193	0.07156	T	0.150453648360593	0.17139	T	0.945205	0.79675	D	0.49731943	0.66937	0.402753	0.64749	0.49731943	0.66938	0.402753	0.64749	-0.292	0.00470	T	.	.	0.061	0.01328	B	.;.;.;.;.	.;.;.;.;.	2.742262	0.35919	20.1	0.41093181787219041	0.02942	0.92294	0.55381	D	AEFBI	0.483444	0.52388	N	-0.468564775393684	0.23115	1.239066	-0.127156818240236	0.34299	1.971453	0.999996351238797	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.659464	0.59346	0	0.635551	0.53088	0	.	.	5.79	5.79	0.91751	5.781000	0.68615	7.874000	0.72122	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0:0.0:0.0:1.0	16.119	0.81146	813	0.42397	.;Pleckstrin homology domain;.;Pleckstrin homology domain;Pleckstrin homology domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	386.49	33	chr7	36887577	.	T	C	386.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.392;DP=206;ExcessHet=0;FS=1.393;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.08;ReadPosRankSum=-0.189;SOR=0.446	GT:AD:DP:GQ:PL	0/1:15,17:32:99:397,0,317	6	0	1	0
chr7	47829595	47829595	G	C	exonic	PKD1L1	.	nonsynonymous SNV	PKD1L1:NM_138295:exon44:c.C6565G:p.L2189V	Heterotaxy, visceral, 8, autosomal, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.00127835857952	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.56	0.06381	T	0.161	0.31326	T	0.067	0.23653	B	0.015	0.17295	B	0.800789	0.06768	N	1.139820	1	0.08975	N	1.32	0.33002	L	2.05	0.20664	T	-0.76	0.21215	N	0.077	0.05162	-0.9874	0.33249	T	0.034	0.14683	T	10	0.047335982	0.04037	T	0.001278	0.01759	T	0.025	0.05312	0.437	0.48993	0.0884992946249	0.08302	0.058640025517176016	0.05805	0.097110365055	0.10970	0.267502307892	0.05817	T	0.053076	0.29342	T	-0.296889	0.08955	T	-0.664237	0.07983	T	0.0382535461650476	0.03377	T	0.442656	0.12286	T	0.04340317	0.06758	0.03085182	0.01594	0.04340317	0.06758	0.03085182	0.01594	-2.84	0.08557	T	0.18439717788962887	0.23915	0.085	0.10352	B	.	.	0.333476	0.07071	3.643	0.89928721472256545	0.19227	0.00981	0.03737	N	AEFDBI	0.033246	0.03905	N	-0.949154353178447	0.09711	0.4608325	-1.01287491586493	0.09502	0.4730853	0.999972890798845	0.50053	0.516011	0.20929	0	0.59043	0.45803	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	4.21	-2.48	0.06052	-0.913000	0.04150	-0.189000	0.11056	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.901000	0.43729	0.4609:0.1887:0.1891:0.1613	0.856	0.01107	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4	453.83	72	chr7	47829595	.	G	C	453.83	.	AC=4;AF=0.4;AN=10;BaseQRankSum=-2.551;DP=502;ExcessHet=2.5225;FS=302.8;MLEAC=5;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.01;ReadPosRankSum=0.904;SOR=8.862	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:33,13:46:99:0|1:47829595_G_C:116,0,768:47829595	1	0	4	2
chr7	47829596	47829596	G	C	exonic	PKD1L1	.	nonsynonymous SNV	PKD1L1:NM_138295:exon44:c.C6564G:p.C2188W	Heterotaxy, visceral, 8, autosomal, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.00311672116924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.788e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.21467	T	0.184	0.29056	T	0.995	0.67487	D	0.547	0.49095	P	0.460342	0.12399	N	0.747174	0.999995	0.08975	N	1.67	0.42885	L	2.15	0.19311	T	-2.36	0.52128	N	0.296	0.33469	-1.0591	0.11981	T	0.048	0.20672	T	10	0.36171162	0.52784	T	0.003117	0.06786	T	0.080	0.23350	0.552	0.66856	0.273070737957	0.26916	0.2536045200721503	0.25274	0.410098164805	0.41806	0.397005200386	0.24651	T	0.34704	0.71522	T	-0.171564	0.25000	T	-0.484216	0.23999	T	0.452246865480397	0.30879	T	0.463454	0.13490	T	0.08204342	0.18882	0.115264766	0.27824	0.08204342	0.18881	0.115264766	0.27823	-7.376	0.56735	T	0.21312292306990016	0.28611	0.462	0.62816	A	.	.	2.025831	0.25746	16.87	0.98535746284117109	0.42657	0.03107	0.08041	N	AEFDBI	0.085021	0.17234	N	-0.32621816442702	0.28156	1.55065	-0.474339133563733	0.22864	1.243968	0.99995617926297	0.48110	0.516011	0.20929	0	0.59043	0.45803	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	4.21	1.54	0.22290	0.128000	0.15636	1.147000	0.24451	0.676000	0.76740	0.000000	0.06391	0.003000	0.18671	0.870000	0.41412	0.3084:0.0:0.6916:0.0	6.370	0.20682	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	1400.92	70	chr7	47829596	.	G	C	1400.92	.	AC=7;AF=0.5;AN=14;BaseQRankSum=0.226;DP=584;ExcessHet=14.2834;FS=320.552;MLEAC=6;MLEAF=0.429;MQ=60;MQRankSum=0;QD=2.96;ReadPosRankSum=0.688;SOR=10.536	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:33,13:46:99:0|1:47829595_G_C:116,0,768:47829595	0	0	7	0
chr7	48103309	48103309	A	G	exonic	UPP1	.	nonsynonymous SNV	UPP1:NM_003364:exon6:c.A334G:p.I112V,UPP1:NM_001287426:exon7:c.A334G:p.I112V,UPP1:NM_001362774:exon7:c.A334G:p.I112V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.137	0.0162703173878	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.068e-05	0.0005	4.533e-05	3.607e-05	6.545e-05	3.187e-05	2.855e-05	3.432e-05	3.064e-05	6.545e-05	0	0	0	0	0	4.503e-05	0.0001	1.194e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.561	0.06669	T	0.844	0.03652	T	0.005	0.12996	B	0.013	0.16460	B	0.006375	0.32080	N	0.369553	0.659061	0.48481	D	0.65	0.16133	N	-2.14	0.86415	D	-0.25	0.11008	N	0.335	0.37613	-0.8153	0.54226	T	0.370	0.72932	T	10	0.17066589	0.31743	T	0.01627	0.37444	T	0.137	0.36984	0.393	0.41770	0.494366844524	0.49069	0.6359250264121555	0.63526	0.119767800777	0.13491	0.439313769341	0.30483	T	0.150536	0.55493	T	-0.0746563	0.40579	T	-0.345015	0.39777	T	0.0481831632055793	0.05176	T	0.90391	0.67021	D	0.036912184	0.04632	0.047135282	0.06722	0.036912184	0.04631	0.047135282	0.06722	-7.212	0.55568	T	.	.	0.115	0.22933	B	.;.;.;.	.;.;.;.	1.228969	0.16235	12.41	0.69032023839716439	0.08843	0.30303	0.24048	N	AEFDGBCI	0.037360	0.05126	N	-1.18467389851375	0.05232	0.2380039	-1.17438792066289	0.06340	0.3048925	0.99999892264264	0.74766	0.706548	0.73137	0	0.633656	0.55848	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.43	-4.68	0.03070	1.426000	0.34478	0.250000	0.16416	-0.576000	0.04747	0.702000	0.28645	0.000000	0.08366	0.986000	0.61781	0.426:0.0:0.574:0.0	14.599	0.68020	804	0.43891	Nucleoside phosphorylase domain|Nucleoside phosphorylase, conserved site;Nucleoside phosphorylase domain|Nucleoside phosphorylase, conserved site;Nucleoside phosphorylase domain|Nucleoside phosphorylase, conserved site;Nucleoside phosphorylase domain|Nucleoside phosphorylase, conserved site	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2857	512.99	52	chr7	48103309	.	A	G	512.99	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-2.199;DP=532;ExcessHet=2.5225;FS=97.472;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=1.44;ReadPosRankSum=0.37;SOR=8.581	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:19,9:28:99:0|1:48103308_C_T:193,0,588:48103308	3	0	4	0
chr7	48389220	48389220	T	C	exonic	ABCA13	.	nonsynonymous SNV	ABCA13:NM_152701:exon37:c.T11654C:p.I3885T	.	.	.	.	.	.	.	.	0.3602	0.708	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.866	.	.	.	3.402e-05	0	0	0	0.0002	4.616e-05	0	0	2.59e-05	4	154602	rs762713578	1.164e-05	1.163e-05	9.538e-06	1.377e-05	8.1e-06	7.09e-06	5.8e-06	3.81e-06	2.76e-06	0	0	0	0	0.0001	0	8.1e-06	1.658e-05	0	1.314e-05	1.313e-05	1.284e-05	1.345e-05	1.47e-05	2.18e-06	8.2e-07	.	.	0	0	0	0	0	9.427e-05	0	1.47e-05	0	0	0.0	0.91255	D	0.001	0.83351	D	.	.	.	.	.	.	0.000198	0.48115	U	0.000000	0.999771	0.48980	D	.	.	.	-3.46	0.94508	D	-4.02	0.74269	D	0.679	0.68603	0.871	0.95290	D	0.849	0.94970	D	10	0.84991646	0.84166	D	0.075093	0.72203	D	0.866	0.95949	0.741	0.87317	0.662629368687	0.65979	0.5355121239774284	0.53476	0.185356326507	0.20839	0.459538221359	0.33246	T	.	.	.	0.221288	0.75897	D	0.21054	0.83693	D	0.960603356361389	0.65851	D	0.908009	0.67517	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.473	0.63333	A	.	.	3.763972	0.54020	23.4	0.99386308498741427	0.62113	0.96541	0.69655	D	AEFBI	0.714046	0.66665	D	0.361527995934699	0.59351	4.113771	0.327293671882935	0.57150	3.879755	0.999999939844014	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.59	4.59	0.56297	6.569000	0.73882	7.806000	0.69288	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.276000	0.23917	0.0:0.0:0.0:1.0	11.620	0.50369	812	0.42537	ABC transporter-like|ABC transporter-like|AAA+ ATPase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	256.53	38	chr7	48389220	.	T	C	256.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-3.25;DP=204;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.09;ReadPosRankSum=-0.739;SOR=0.693	GT:AD:DP:GQ:PL	0/1:5,12:17:99:267,0,140	6	0	1	0
chr7	56068539	56068539	C	G	exonic	SUMF2	.	nonsynonymous SNV	SUMF2:NM_001042468:exon2:c.C125G:p.T42R,SUMF2:NM_001042469:exon2:c.C125G:p.T42R,SUMF2:NM_001042470:exon2:c.C125G:p.T42R,SUMF2:NM_001130069:exon2:c.C125G:p.T42R,SUMF2:NM_001366647:exon2:c.C125G:p.T42R,SUMF2:NM_001366648:exon2:c.C125G:p.T42R,SUMF2:NM_015411:exon2:c.C125G:p.T42R	.	434	1078	9	1	0	11	0.00507614	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.839	.	.	0.00898562	0.0045	0	0.0004	0.0001	0	1.5e-05	0.0056	0.0325	0.0039586	612	154602	rs369882538	0.0021	0.0021	0.0011	0.0030	0.0331	0.0020	0.0020	0.0320	0.0316	5.977e-05	0	0	5.038e-05	0	0.0010	1.349e-05	0.0024	0.0331	0.0013	0.0013	0.0007	0.0018	0.0389	0.0011	0.0011	0.0343	0.0326	4.816e-05	0	6.56e-05	0	0.0002	0	0.0034	1.47e-05	0	0.0389	0.001	0.78490	D	0.002	0.83351	D	0.999	0.77913	D	0.972	0.72923	D	0.000000	0.84330	D	0.045618	1	0.81001	D	.	.	.	-3.5	0.94658	D	-5.01	0.83292	D	0.564	0.58883	1.009	0.97333	D	0.901	0.96711	D	10	0.009661853	0.00217	T	.	.	.	0.839	0.94952	.	.	0.97771676376	0.97747	.	.	0.295235085784	0.31929	0.444704711437	0.31220	T	0.767328	0.94254	D	-0.0310321	0.47268	T	0.206333	0.83473	D	0.0776474800912881	0.09684	T	0.973103	0.92475	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.274	0.51428	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.385714	0.67640	25.1	0.99549633890726708	0.71023	0.99446	0.96131	D	AEFBI	0.884092	0.81351	D	0.774866610479177	0.84511	8.308345	0.738418617030705	0.85290	8.536415	0.999999999999312	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.01	5.01	0.66477	7.019000	0.76152	.	.	0.443000	0.21123	1.000000	0.71638	0.984000	0.30665	0.997000	0.79791	0.0:1.0:0.0:0.0	17.245	0.86911	619	0.66147	Sulfatase-modifying factor enzyme;Sulfatase-modifying factor enzyme;Sulfatase-modifying factor enzyme;Sulfatase-modifying factor enzyme;Sulfatase-modifying factor enzyme;.;Sulfatase-modifying factor enzyme;Sulfatase-modifying factor enzyme	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.002523	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.015267	0.07143	216.44	33	chr7	56068539	.	C	G	216.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.486;DP=276;ExcessHet=0;FS=1.428;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=6.76;ReadPosRankSum=-0.519;SOR=0.625	GT:AD:DP:GQ:PL	0/1:19,13:32:99:227,0,449	6	0	1	0
chr7	64266487	64266570	ACCACAAGAGAATTCATACTGGAGAGAAACCATACACATGTGAAGAATGTGGCAAAGCCTTTAGCTTATCCTCATCCCTCACTT	-	exonic	ZNF679	.	nonframeshift deletion	ZNF679:NM_153363:exon5:c.854_937del:p.S306_F333del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.19e-05	0	0	0	0	3.039e-05	0	0.0002	.	.	.	.	5.885e-05	5.951e-05	3.813e-05	7.978e-05	0.0005	4.878e-05	4.497e-05	0.0004	0.0004	2.988e-05	0	0	0	0	0	2.968e-05	9.938e-05	0.0005	9.874e-05	9.853e-05	0.0001	8.081e-05	0.0006	6.017e-05	4.888e-05	0.0002	9.044e-05	0.0002	0	0	0	0	0	0	4.417e-05	0.0009	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	744.5	35	chr7	64266486	.	AACCACAAGAGAATTCATACTGGAGAGAAACCATACACATGTGAAGAATGTGGCAAAGCCTTTAGCTTATCCTCATCCCTCACTT	A	744.5	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.5;DP=259;ExcessHet=0;FS=2.366;MLEAC=1;MLEAF=0.071;MQ=58.58;MQRankSum=-1.507;QD=13.54;ReadPosRankSum=0.748;SOR=0.368	GT:AD:DP:GQ:PL	0/1:33,22:55:99:755,0,1169	6	0	1	0
chr7	64927972	64927972	G	A	exonic	ZNF273	.	nonsynonymous SNV	ZNF273:NM_001385646:exon4:c.G353A:p.C118Y,ZNF273:NM_021148:exon4:c.G644A:p.C215Y,ZNF273:NM_001385652:exon5:c.G449A:p.C150Y,ZNF273:NM_001385643:exon6:c.G449A:p.C150Y,ZNF273:NM_001385649:exon6:c.G449A:p.C150Y,ZNF273:NM_001385644:exon8:c.G449A:p.C150Y,ZNF273:NM_001385645:exon8:c.G449A:p.C150Y	.	.	.	.	.	.	.	.	.	.	.	2334442	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.038	0.000968109799277	0.0002	0.000199681	0.0001	0	0.0002	0	0	0.0001	0	0.0002	0.0001035	16	154602	rs202155421	7.733e-05	7.73e-05	8.851e-05	6.603e-05	0.0002	6.535e-05	6.138e-05	9.799e-05	7.844e-05	2.991e-05	0.0002	0	0	0	0	7.735e-05	8.283e-05	0.0002	9.715e-05	9.488e-05	0.0001	8.515e-05	0.0002	5.826e-05	4.698e-05	0.0001	9.393e-05	0	0	6.936e-05	0	0	0	0	0.0002	0	0	0.008	0.58626	D	0.011	0.64786	D	0.068	0.23728	B	0.102	0.30857	B	.	.	.	.	1	0.08975	N	-0.26	0.03792	N	2.57	0.13552	T	3.37	0.00098	N	0.186	0.20262	-0.9634	0.38527	T	0.016	0.06377	T	9	0.021619678	0.00521	T	9.68E-4	0.01003	T	0.038	0.09825	.	.	0.0611884634855	0.05136	0.01428178836051786	0.01385	0.133534718987	0.15039	0.309951782227	0.11901	T	0.002656	0.02045	T	-0.494603	0.00613	T	-0.668804	0.07685	T	0.0335333955260426	0.02559	T	0.410759	0.10626	T	0.10610283	0.25089	0.12172852	0.29370	0.10610283	0.25089	0.12172852	0.29369	-2.278	0.04436	T	.	.	0.067	0.02428	B	.	.	0.473234	0.08429	5.184	0.39378796774743469	0.02714	0.00051	0.00397	N	AEFBCI	0.033530	0.03998	N	-1.58025488626808	0.01366	0.05953391	-1.67950839269413	0.01231	0.05544746	0.0165794903835563	0.12847	0.562547	0.31514	0	0.653731	0.59785	0	0.670488	0.60580	0	0.567892	0.33627	0	.	.	1.16	-2.32	0.06360	-0.415000	0.07170	.	.	-0.648000	0.04400	0.002000	0.15269	0.000000	0.08366	0.034000	0.13613	0.0:0.0:0.3213:0.6786	4.679	0.12111	730	0.54327	Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	803.86	63	chr7	64927972	.	G	A	803.86	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.09;DP=323;ExcessHet=0;FS=1.067;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.17;ReadPosRankSum=0.397;SOR=0.612	GT:AD:DP:GQ:PL	0/1:22,31:53:99:814,0,509	6	0	1	0
chr7	72815429	72815429	G	A	exonic	TYW1B	.	nonsynonymous SNV	TYW1B:NM_001145440:exon3:c.C188T:p.A63V	.	431	1089	2	0	0	2	0.000917431	.	.	.	2292335	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	0.00134076604228	.	0.000199681	0.0001	0	0	0	0	0.0002	0	6.057e-05	0.0001423	22	154602	rs551443078	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0001	0.0002	0.0002	3.01e-05	6.877e-05	0	0	0	0.0003	0.0002	0.0002	4.723e-05	0.0001	0.0001	0.0002	9.429e-05	0.0004	8.182e-05	6.735e-05	0.0001	7.902e-05	7.238e-05	0	0.0001	0	0	0	0	0.0002	0	0.0004	.	.	.	0.115	0.36630	T	0.002	0.09854	B	0.026	0.20792	B	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.234	0.26354	.	.	.	.	.	.	.	0.03803104	0.02194	T	0.001341	0.01910	T	.	.	.	.	0.0297737177859	0.01360	0.48243395763032776	0.48163	.	.	0.283754020929	0.08021	T	0.031614	0.22120	T	-0.318143	0.07051	T	-0.398575	0.33550	T	.	.	.	0.762924	0.38892	T	0.060149424	0.12308	0.27255806	0.53168	0.060149424	0.12308	0.27255806	0.53167	-5.269	0.39635	T	.	.	0.130	0.38800	B	.;.;.	.;.;.	1.894163	0.24061	16.25	0.8194710890085759	0.13941	0.09125	0.14943	N	AEFDBI	0.036885	0.04985	N	.	.	.	.	.	.	0.00260488904007435	0.09566	0.106106	0.02776	0	0.105846	0.03286	0	0.083675	0.02720	0	0.092715	0.02821	0	.	.	2.68	-2.03	0.06959	1.125000	0.30946	0.243000	0.16332	0.526000	0.24426	0.034000	0.20669	0.000000	0.08366	0.853000	0.40368	0.2291:0.0:0.1869:0.584	4.557	0.11539	878	0.29785	.;Flavodoxin/nitric oxide synthase|Flavodoxin/nitric oxide synthase;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.07143	648.44	33	chr7	72815429	.	G	A	648.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.565;DP=267;ExcessHet=0;FS=4.372;MLEAC=1;MLEAF=0.071;MQ=59.3;MQRankSum=-0.854;QD=8.01;ReadPosRankSum=-0.45;SOR=0.351	GT:AD:DP:GQ:PL	0/1:47,34:81:99:659,0,1186	6	0	1	0
chr7	77059374	77059374	G	-	exonic	SPDYE18	.	frameshift deletion	SPDYE18:NM_001351348:exon2:c.185delC:p.P62Hfs*34	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	127.23	22	chr7	77059373	.	TG	T	127.23	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.671;DP=172;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=27.62;MQRankSum=-3.244;QD=7.07;ReadPosRankSum=-0.844;SOR=0.446	GT:AD:DP:GQ:PL	0/1:12,6:18:99:137,0,327	5	0	1	1
chr7	90413023	90413023	C	T	exonic	CLDN12	.	nonsynonymous SNV	CLDN12:NM_001185073:exon3:c.C347T:p.S116L,CLDN12:NM_012129:exon3:c.C347T:p.S116L,CLDN12:NM_001185072:exon4:c.C347T:p.S116L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.154	0.0263754937831	.	.	1.647e-05	0	8.639e-05	0	0	1.498e-05	0	0	1.29e-05	2	154602	rs747740249	4.788e-06	4.788e-06	6.806e-06	2.75e-06	5.038e-05	1.99e-06	1.28e-06	8.35e-06	3.12e-06	0	2.236e-05	0	5.038e-05	0	0	1.799e-06	1.656e-05	1.159e-05	6.571e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.018	0.54683	D	0.094	0.39645	T	0.348	0.33602	B	0.062	0.26930	B	0.029181	0.25493	N	0.446317	0.984611	0.24785	N	1.67	0.42885	L	-0.64	0.77593	T	-2.93	0.61284	D	0.251	0.28381	-0.6761	0.61552	T	0.260	0.63055	T	10	0.23626679	0.40704	T	0.026375	0.49291	D	0.154	0.40340	0.256	0.19689	0.854006300897	0.85260	0.5518765609639702	0.55113	.	.	0.551545739174	0.46076	T	0.195377	0.55144	T	-0.0635428	0.42351	T	-0.246186	0.50193	T	0.472267180681229	0.31614	T	0.913609	0.69895	D	0.16551758	0.36829	0.15656576	0.36650	0.16551758	0.36829	0.15656576	0.36650	-5.131	0.38232	T	.	.	0.143	0.33156	B	.;.;.;.;.	.;.;.;.;.	3.201363	0.43535	21.8	0.99540368708286486	0.70461	0.28827	0.23659	N	ALL	0.377262	0.46110	N	-0.213472603701853	0.32580	1.838922	-0.108739829714104	0.35037	2.022328	0.999999999985138	0.74766	0.631981	0.41245	0	0.636889	0.57051	0	0.779548	0.98927	0	0.297074	0.05519	2	.	.	5.04	5.04	0.67293	0.879000	0.27783	5.941000	0.51480	0.549000	0.26987	0.323000	0.25529	1.000000	0.68203	0.891000	0.42908	0.0:0.744:0.256:0.0	14.203	0.65261	642	0.63909	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1191.44	33	chr7	90413023	.	C	T	1191.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.733;DP=310;ExcessHet=0;FS=2.418;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.27;ReadPosRankSum=-1.433;SOR=0.963	GT:AD:DP:GQ:PL	0/1:68,48:116:99:1202,0,1775	6	0	1	0
chr7	92469542	92469542	C	A	exonic	ERVW-1	.	nonsynonymous SNV	ERVW-1:NM_014590:exon1:c.G840T:p.L280F,ERVW-1:NM_001130925:exon2:c.G840T:p.L280F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.00156914295602	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1422470365	0	7.952e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.021	0.58089	D	.	.	.	.	.	.	0.084498	0.02389	U	415.972000	0.999972	0.18612	N	.	.	.	1.78	0.25678	T	-3.2	0.64710	D	0.152	0.15609	-0.9857	0.33663	T	0.086	0.33326	T	7	0.17166036	0.31896	T	0.001569	0.02497	T	0.045	0.12272	0.524	0.62818	0.192905019026	0.18896	0.3689885199974562	0.36812	0.914874016982	0.71196	0.531175136566	0.43201	T	0.03482	0.23473	T	-0.218081	0.18255	T	-0.551035	0.17227	T	0.961267530918121	0.66034	D	0.336266	0.07184	T	0.25721347	0.48764	0.24700962	0.50223	0.25721347	0.48764	0.24700962	0.50222	-4.337	0.28692	T	.	.	0.180	0.39220	B	.;.	.;.	2.383459	0.30602	18.49	0.99607219406505487	0.74575	0.02303	0.06618	N	AEFI	0.046326	0.07681	N	-0.418332627553278	0.24827	1.343301	-0.594615789211273	0.19632	1.054232	2.73524271504788E-4	0.06300	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	0.046	0.046	0.13572	0.145000	0.15978	0.277000	0.16723	0.154000	0.17704	0.746000	0.29090	0.668000	0.26052	0.816000	0.38450	.	.	.	614	0.66605	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	78.63	64	chr7	92469542	.	C	A	78.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.118;DP=360;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=57.41;MQRankSum=-6.113;QD=2.02;ReadPosRankSum=-0.238;SOR=0.885	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:34,5:39:89:0|1:92469542_C_A:89,0,1404:92469542	6	0	1	0
chr7	92469996	92469996	A	G	exonic	ERVW-1	.	nonsynonymous SNV	ERVW-1:NM_014590:exon1:c.T386C:p.V129A,ERVW-1:NM_001130925:exon2:c.T386C:p.V129A	.	551	945	26	0	0	26	0.0135699	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	.	0.0082	0.00499201	0.0074	0.0015	0.0047	0	0.0011	0.0118	0.0070	0.0018	0.0070827	1095	154602	rs142852059	0.0078	0.0078	0.0077	0.0079	0.0183	0.0076	0.0076	0.0141	0.0126	0.0019	0.0056	0.0154	5.549e-05	0.0011	0.0183	0.0105	0.0093	0.0029	0.0065	0.0065	0.0072	0.0058	0.0100	0.0062	0.0060	0.0094	0.0091	0.0019	0.0022	0.0083	0.0121	0	0.0008	0.0204	0.0100	0.0095	0.0050	0.02	0.49613	D	0.049	0.48336	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.24	0.17923	T	-1.0	0.26422	N	0.053	0.02964	-1.0259	0.21788	T	0.024	0.10148	T	6	0.004876077	0.00104	T	.	.	.	0.047	0.12962	.	.	0.0846915920261	0.08053	0.5273443581848267	0.52658	0.401209546	0.41108	0.52984726429	0.43013	T	0.008542	0.07834	T	-0.668288	0.00056	T	-0.722338	0.04683	T	0.0131194170398087	0.00231	T	0.268673	0.04486	T	0.11896522	0.28020	0.15734355	0.36797	0.11896522	0.28020	0.15734355	0.36796	-3.739	0.19895	T	.	.	0.237	0.47039	B	.;.	.;.	0.017815	0.04408	1.147	0.86537609897876433	0.16603	0.00541	0.02492	N	AEGI	0.028852	0.02618	N	-0.623179455358839	0.18249	0.9459477	-0.838648393074483	0.13560	0.7041575	0.00115902076216214	0.08283	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	0.046	0.046	0.13572	0.164000	0.16359	0.360000	0.17566	0.187000	0.17834	0.290000	0.25233	0.003000	0.18671	0.338000	0.25386	.	.	.	615	0.66512	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	236.44	36	chr7	92469996	.	A	G	236.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.727;DP=216;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.44;ReadPosRankSum=0.192;SOR=0.627	GT:AD:DP:GQ:PL	0/1:18,10:28:99:247,0,499	6	0	1	0
chr7	93102964	93102964	C	G	exonic	SAMD9	.	nonsynonymous SNV	SAMD9:NM_001193307:exon2:c.G3134C:p.G1045A,SAMD9:NM_017654:exon3:c.G3134C:p.G1045A	MIRAGE syndrome, Autosomal dominant;Tumoral calcinosis, familial, normophosphatemic, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.00364362051594	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.739e-06	0.0001	2.726e-06	2.753e-06	2.701e-06	6.4e-07	4.3e-07	7.2e-07	2e-07	0	0	3.828e-05	0	0	0	2.701e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.358	0.11994	T	0.365	0.16717	T	0.278	0.32022	B	0.057	0.26280	B	0.038933	0.24228	N	0.350345	0.999403	0.21245	N	1.395	0.35261	L	1.98	0.21865	T	-0.26	0.11185	N	0.172	0.18376	-1.0035	0.28903	T	0.025	0.10866	T	10	0.101587355	0.18570	T	0.003644	0.08371	T	0.019	0.03383	0.111	0.02112	0.462721901306	0.45895	0.30406387633743254	0.30319	0.206316586236	0.23055	0.261323869228	0.05050	T	0.005306	0.11036	T	-0.27156	0.11583	T	-0.627853	0.10578	T	0.260672181844711	0.23344	T	0.427357	0.11519	T	0.026715023	0.01764	0.03884978	0.03847	0.026715023	0.01763	0.03884978	0.03846	-5.641	0.43165	T	0.1164478318514886	0.10529	0.110	0.22135	B	.;.;.	.;.;.	1.711545	0.21796	15.35	0.15711081566189278	0.00394	0.77281	0.37980	D	AEFBI	0.241180	0.36284	N	-0.496248800179662	0.22203	1.183913	-0.415350861612596	0.24546	1.344766	0.0736999754895762	0.15642	0.706298	0.61202	0	0.709663	0.81188	0	0.573888	0.23631	0	0.655142	0.61905	0	.	.	4.79	0.721	0.17373	1.167000	0.31456	-0.698000	0.07808	-0.200000	0.08971	0.996000	0.39380	0.000000	0.08366	0.044000	0.14658	0.0:0.4337:0.0:0.5663	8.086	0.29933	806	0.43582	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3333	622.35	123	chr7	93102964	.	C	G	622.35	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-5.662;DP=901;ExcessHet=3.1439;FS=135.92;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=1.18;ReadPosRankSum=0.134;SOR=9.994	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:56,15:71:99:0|1:93102964_C_G:131,0,1990:93102964	2	0	4	1
chr7	93102965	93102965	C	G	exonic	SAMD9	.	nonsynonymous SNV	SAMD9:NM_001193307:exon2:c.G3133C:p.G1045R,SAMD9:NM_017654:exon3:c.G3133C:p.G1045R	MIRAGE syndrome, Autosomal dominant;Tumoral calcinosis, familial, normophosphatemic, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.00358717597943	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.121e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.32610	T	0.086	0.40909	T	0.013	0.16609	B	0.007	0.12992	B	0.038933	0.24228	N	0.350345	0.998976	0.21747	N	2.2	0.62015	M	1.96	0.22270	T	-0.4	0.15782	N	0.133	0.12913	-1.0400	0.17313	T	0.033	0.13986	T	10	0.07416803	0.11303	T	0.003587	0.08216	T	0.038	0.09825	0.132	0.03662	0.251639045875	0.24756	0.3058776317445259	0.30500	0.186022872039	0.20906	0.28491345048	0.08187	T	0.005275	0.11722	T	-0.261545	0.12721	T	-0.613468	0.11704	T	0.236644327640533	0.22264	T	0.470853	0.13943	T	0.04599401	0.07624	0.049176365	0.07460	0.04599401	0.07624	0.049176365	0.07460	-5.327	0.40209	T	0.14989570008231407	0.17564	0.173	0.38025	B	.;.;.	.;.;.	2.737985	0.35852	20.1	0.81866065481440609	0.13900	0.88541	0.48516	D	AEFBI	0.296760	0.40652	N	-1.00286225320604	0.08544	0.4010124	-0.91137622340653	0.11826	0.6048167	0.111460904489544	0.16659	0.706298	0.61202	0	0.709663	0.81188	0	0.573888	0.23631	0	0.655142	0.61905	0	.	.	4.79	-0.384	0.11853	2.801000	0.47603	1.030000	0.23473	-1.635000	0.00848	0.985000	0.35982	0.000000	0.08366	0.009000	0.08673	0.0:0.5765:0.1236:0.2999	6.198	0.19775	806	0.43582	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3571	842.65	124	chr7	93102965	.	C	G	842.65	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-4.562;DP=900;ExcessHet=4.7409;FS=139.643;MLEAC=5;MLEAF=0.357;MQ=60;MQRankSum=0;QD=1.18;ReadPosRankSum=0.148;SOR=10.1	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:56,15:71:99:0|1:93102964_C_G:131,0,1990:93102964	2	0	5	0
chr7	94910346	94910346	A	G	exonic	PPP1R9A	.	nonsynonymous SNV	PPP1R9A:NM_001166161:exon1:c.A233G:p.N78S,PPP1R9A:NM_001166162:exon1:c.A233G:p.N78S,PPP1R9A:NM_001166163:exon1:c.A233G:p.N78S,PPP1R9A:NM_001166160:exon2:c.A233G:p.N78S,PPP1R9A:NM_017650:exon2:c.A233G:p.N78S	.	421	1095	6	0	0	6	0.00273224	.	.	.	2392041	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.055	0.00589071365289	.	0.000199681	9.915e-05	0	0	0	0	0.0001	0	0.0002	8.41e-05	13	154602	rs569938281	6.362e-05	6.362e-05	4.356e-05	8.388e-05	0.0007	5.295e-05	4.911e-05	0.0002	0.0001	2.987e-05	0	7.652e-05	0	0	0.0007	4.586e-05	0.0002	0.0002	3.94e-05	3.937e-05	2.57e-05	5.371e-05	0.0006	1.714e-05	1.129e-05	0.0002	8.996e-05	0	0	0	0	0	0	0	2.94e-05	0.0005	0.0006	0.374	0.11406	T	0.84	0.03610	T	0.0	0.02946	B	0.0	0.01387	B	0.036192	0.24552	N	0.385523	1	0.08975	N	0.29	0.10111	N	2.58	0.13434	T	-0.42	0.14978	N	0.058	0.08646	-0.9738	0.36387	T	0.011	0.04369	T	9	0.01691711	0.00358	T	0.005891	0.15340	T	0.055	0.15663	0.058	0.00182	0.141422826196	0.13715	0.05467836055173705	0.05409	0.131701140582	0.14851	0.256446897984	0.04476	T	0.03028	0.21502	T	-0.623219	0.00105	T	-0.82844	0.01290	T	0.0625598430633545	0.07567	T	0.861714	0.55578	D	0.021377724	0.00737	0.04201518	0.04908	0.021377724	0.00737	0.04201518	0.04907	-1.695	0.02216	T	.	.	0.049	0.00120	B	.;.;.;.;.;.	.;.;.;.;.;.	0.080795	0.04871	1.459	0.24878314357983372	0.01121	0.05050	0.10838	N	AEFBI	0.063901	0.12377	N	-1.53472940274998	0.01625	0.07108063	-1.53899852451525	0.02052	0.0938404	0.999991806816145	0.74766	0.549168	0.22868	0	0.563428	0.19063	0	0.527494	0.11647	0	0.616125	0.45549	0	.	.	5.51	-7.33	0.01284	-0.173000	0.09844	-1.072000	0.06417	-0.576000	0.04747	0.175000	0.24000	0.000000	0.08366	0.077000	0.17074	0.3283:0.1863:0.4854:0.0	11.030	0.46981	459	0.78817	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.07143	934.49	39	chr7	94910346	.	A	G	934.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.07;DP=235;ExcessHet=0;FS=2.464;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=18.32;ReadPosRankSum=-1.341;SOR=0.404	GT:AD:DP:GQ:PL	0/1:18,33:51:99:945,0,443	6	0	1	0
chr7	98892508	98892508	G	T	exonic	TRRAP	.	nonsynonymous SNV	TRRAP:NM_001244580:exon5:c.G346T:p.V116L,TRRAP:NM_001375524:exon5:c.G346T:p.V116L,TRRAP:NM_003496:exon5:c.G346T:p.V116L	.	432	1087	2	1	0	4	0.00183655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.273	0.0106554396092	.	.	8.242e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs782567000	2.056e-06	2.052e-06	0	4.134e-06	2.699e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.699e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.002	0.12183	B	0.001	0.08700	B	0.000001	0.84330	D	0.000000	1	0.81001	D	-1.84	0.00272	N	3.66	0.63403	T	0.49	0.02993	N	0.429	0.46835	-0.9102	0.46830	T	0.087	0.33857	T	10	0.14127734	0.26845	T	0.010655	0.27430	T	0.273	0.58883	0.297	0.26202	0.694283568966	0.69165	0.7895633350944651	0.78908	0.889013776502	0.70132	0.852177619934	0.89943	D	0.16893	0.51612	T	0.221105	0.75880	D	0.0798253	0.75566	D	0.426223754882812	0.29921	T	0.890411	0.62412	D	0.34401327	0.56597	0.43398118	0.66933	0.34401327	0.56597	0.43398118	0.66933	-2.499	0.05774	T	0.07665302287741946	0.03520	0.172	0.37727	B	.;.;.;.	.;.;.;.	3.987441	0.58662	24.0	0.68173612189566579	0.08577	0.98581	0.84338	D	AEFBI	0.718670	0.66980	D	-0.286113585724828	0.29684	1.648332	0.0356689555189101	0.41383	2.48539	0.99999610440614	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.97	5.97	0.96935	6.551000	0.73809	11.829000	0.97466	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	20.413	0.99024	404	0.82510	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	526.44	38	chr7	98892508	.	G	T	526.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.974;DP=234;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.53;ReadPosRankSum=0.389;SOR=0.56	GT:AD:DP:GQ:PL	0/1:26,24:50:99:537,0,553	6	0	1	0
chr7	100175805	100175805	G	C	exonic	GPC2	.	nonsynonymous SNV	GPC2:NM_152742:exon3:c.C415G:p.L139V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.0084618148058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	5.746e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.19293	T	0.264	0.22761	T	0.002	0.09854	B	0.003	0.08700	B	0.011788	0.29400	N	0.319847	0.999984	0.18198	N	1.1	0.28011	L	0.82	0.48142	T	0.09	0.05917	N	0.115	0.10340	-1.0389	0.17648	T	0.045	0.19194	T	10	0.06973243	0.10047	T	0.008462	0.22382	T	0.015	0.02232	0.409	0.44395	0.260249123532	0.25628	0.12418845572528417	0.12344	0.308157786748	0.33120	0.309577137232	0.11843	T	0.086908	0.37827	T	-0.283254	0.10325	T	-0.644651	0.09334	T	0.086081848684672	0.10746	T	0.442656	0.12286	T	0.043123998	0.06666	0.05641909	0.10077	0.043123998	0.06665	0.05641909	0.10077	-4.159	0.26155	T	.	.	0.065	0.01960	B	.	.	1.692672	0.21567	15.25	0.93331368040686369	0.23058	0.23428	0.22073	N	AEFBI	0.121001	0.23544	N	-0.863199556233683	0.11727	0.5675084	-0.716315475991125	0.16555	0.876308	0.999171803000595	0.38651	0.52065	0.21626	1	0.588066	0.40923	0	0.719019	0.79029	0	0.604944	0.38103	0	.	.	5.06	2.18	0.26813	0.676000	0.24927	3.139000	0.36475	-0.186000	0.09761	0.000000	0.06391	1.000000	0.68203	0.968000	0.53726	0.0949:0.3504:0.5547:0.0	7.051	0.24254	285	0.88719	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	2724.34	52	chr7	100175805	.	G	C	2724.34	.	AC=6;AF=0.5;AN=12;BaseQRankSum=0.575;DP=381;ExcessHet=11.5949;FS=744.254;MLEAC=7;MLEAF=0.583;MQ=60;MQRankSum=0;QD=7.34;ReadPosRankSum=0.751;SOR=9.641	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:24,21:45:99:0|1:100175805_G_C:489,0,704:100175805	0	0	6	1
chr7	100763864	100763864	A	G	exonic	ZAN	.	nonsynonymous SNV	ZAN:NM_003386:exon21:c.A4045G:p.M1349V,ZAN:NM_173059:exon21:c.A4045G:p.M1349V	.	415	1067	37	3	0	43	0.019752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	.	0.0002	0.00239617	0.0014	0.0002	0.0008	0	0	0.0005	0.0056	0.0073	0.0011966	185	154602	rs202222365	0.0007	0.0007	0.0005	0.0010	0.0075	0.0007	0.0007	0.0070	0.0068	2.987e-05	0.0006	0.0031	5.038e-05	1.873e-05	0.0061	0.0002	0.0014	0.0075	0.0005	0.0005	0.0003	0.0007	0.0068	0.0004	0.0004	0.0050	0.0044	0	0	0.0002	0.0026	0	0	0.0068	0.0005	0.0005	0.0068	.	.	.	0.016	0.60972	D	0.004	0.12183	B	0.006	0.12133	B	0.031058	0.25222	N	0.196730	1	0.23540	N	1.295	0.32453	L	2.62	0.12988	T	-1.79	0.42191	N	0.133	0.13484	-1.0263	0.21658	T	0.021	0.08963	T	10	0.00492242	0.00105	T	.	.	.	0.015	0.02232	.	.	0.0138822411134	0.00435	0.30390041415835306	0.30303	0.0703975186473	0.07888	0.292375028133	0.09269	T	0.022717	0.17466	T	-0.517151	0.00457	T	-0.510642	0.21250	T	0.0337059371202909	0.02588	T	0.633437	0.24778	T	0.109571084	0.25905	0.18297595	0.41258	0.109571084	0.25904	0.18297595	0.41257	-1.173	0.01530	T	.	.	0.076	0.05935	B	.;.;.;.	.;.;.;.	-0.062054	0.03872	0.842	0.60419833298687775	0.06459	0.01038	0.03882	N	AEFDGBIJ	0.061629	0.11794	N	-1.00259693039508	0.08550	0.401294	-1.07129840775714	0.08269	0.4058369	0.999874585204791	0.44625	0.119485	0.03058	0	0.085267	0.02369	0	0.134018	0.03721	0	0.062806	0.01542	0	.	.	4.33	-0.389	0.11835	-0.413000	0.07188	-0.019000	0.12951	0.750000	0.87069	0.000000	0.06391	0.000000	0.08366	0.046000	0.14843	0.2271:0.5354:0.1194:0.1181	3.303	0.06579	699	0.57969	von Willebrand factor, type D domain|Uncharacterised domain, cysteine-rich;von Willebrand factor, type D domain|Uncharacterised domain, cysteine-rich;von Willebrand factor, type D domain|Uncharacterised domain, cysteine-rich;von Willebrand factor, type D domain|Uncharacterised domain, cysteine-rich	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.000000	0.002717	0.000000	0.000000	0.000000	0.003049	0.007576	0.07143	564.44	36	chr7	100763864	.	A	G	564.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.602;DP=257;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.73;ReadPosRankSum=0.188;SOR=0.703	GT:AD:DP:GQ:PL	0/1:32,26:58:99:575,0,792	6	0	1	0
chr7	100768641	100768641	C	A	exonic	ZAN	.	nonsynonymous SNV	ZAN:NM_003386:exon27:c.C5073A:p.N1691K,ZAN:NM_173059:exon27:c.C5073A:p.N1691K	.	355	1129	37	1	0	39	0.0169787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.110	.	.	0.00239617	0.0017	0.0003	0.0012	0	0	0.0006	0.0062	0.0086	0.0011061	171	154602	rs200886020	0.0007	0.0007	0.0005	0.0009	0.0074	0.0007	0.0006	0.0069	0.0067	2.992e-05	0.0006	0.0031	2.525e-05	0	0.0063	0.0001	0.0014	0.0074	0.0005	0.0005	0.0003	0.0007	0.0068	0.0004	0.0004	0.0050	0.0044	0	0	0.0002	0.0026	0	0	0.0068	0.0005	0.0005	0.0068	.	.	.	0.079	0.42086	T	0.999	0.77913	D	0.958	0.70027	D	0.028039	0.25665	N	0.277746	0.999497	0.21100	N	2.175	0.60977	M	0.27	0.59176	T	-3.69	0.70432	D	0.375	0.46835	-0.8721	0.50371	T	0.241	0.60917	T	10	0.00919354	0.00208	T	.	.	.	0.110	0.31079	0.6	0.73105	0.416075642716	0.41223	0.6134464291473529	0.61276	0.0789487963892	0.08884	0.344711124897	0.17139	T	0.047355	0.27697	T	-0.357163	0.04293	T	-0.281532	0.46648	T	0.0956447118229659	0.11871	T	0.70043	0.31009	T	0.067272946	0.14551	0.11275833	0.27210	0.067272946	0.14551	0.11275833	0.27209	-9.285	0.69513	D	.	.	0.344	0.56145	A	.;.;.;.	.;.;.;.	1.503816	0.19327	14.21	0.90094034460398087	0.19377	0.22775	0.21859	N	AEFDBI	0.246495	0.36724	N	-0.202817572994107	0.33019	1.868593	-0.388745786694531	0.25331	1.39241	1.12601365556767E-4	0.05269	0.06567	0.01388	0	0.085267	0.02369	0	0.060301	0.00762	0	0.058706	0.01089	0	.	.	4.77	1.58	0.22557	-0.304000	0.08238	-2.800000	0.03348	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.296000	0.24405	0.0:0.6443:0.0:0.3557	6.947	0.23704	700	0.57880	von Willebrand factor, type D domain|von Willebrand factor, type D domain|von Willebrand factor, type D domain;von Willebrand factor, type D domain|von Willebrand factor, type D domain|von Willebrand factor, type D domain;von Willebrand factor, type D domain|von Willebrand factor, type D domain|von Willebrand factor, type D domain;von Willebrand factor, type D domain|von Willebrand factor, type D domain|von Willebrand factor, type D domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002518	0.000000	0.002717	0.000000	0.000000	0.000000	0.003049	0.011364	0.07143	632.45	36	chr7	100768641	.	C	A	632.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.23;DP=536;ExcessHet=0;FS=3.41;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.2;ReadPosRankSum=0.481;SOR=0.921	GT:AD:DP:GQ:PL	0/1:34,28:62:99:643,0,750	6	0	1	0
chr7	100773851	100773851	A	0	exonic	ZAN	.	.	.	.	428	140	242	44	668	998	0.540984	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	1021.11	81	chr7	100773851	.	A	*	1021.11	.	AC=5;AF=0.357;AN=14;DP=423;ExcessHet=0.0509;FS=2.771;MLEAC=5;MLEAF=0.357;MQ=60;QD=3.04;SOR=0.878	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:24,35:59:99:0|1:100773849_CCAT_C:1389,0,902:100773849	3	1	3	0
chr7	100784727	100784727	G	C	exonic	ZAN	.	nonsynonymous SNV	ZAN:NM_003386:exon36:c.G6727C:p.A2243P,ZAN:NM_173059:exon36:c.G6727C:p.A2243P	.	417	1067	37	1	0	39	0.0179475	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.473	.	0.0002	0.00239617	0.0014	0.0002	0.0008	0	0	0.0005	0.0056	0.0075	0.0011837	183	154602	rs201907411	0.0007	0.0007	0.0005	0.0010	0.0075	0.0007	0.0007	0.0071	0.0069	2.987e-05	0.0006	0.0031	2.519e-05	0	0.0062	0.0001	0.0014	0.0075	0.0005	0.0005	0.0003	0.0007	0.0068	0.0004	0.0004	0.0050	0.0044	0	0	0.0003	0.0026	0	0	0.0068	0.0005	0.0005	0.0068	.	.	.	0.175	0.32040	T	0.934	0.52202	P	0.726	0.55126	P	0.048143	0.01982	N	2.533840	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.196	0.24135	-0.0814	0.80523	T	0.652	0.87889	D	9	0.025876224	0.00769	T	.	.	.	0.473	0.76619	.	.	0.0611884634855	0.05136	0.3031290985180632	0.30225	0.0886726636444	0.10026	0.220651835203	0.01348	T	0.083485	0.37065	T	-0.316908	0.07154	T	-0.222866	0.52461	T	0.0646765785142323	0.07882	T	0.723028	0.33655	T	0.09228847	0.21646	0.10416697	0.25011	0.09228847	0.21645	0.10416697	0.25011	-2.966	0.14100	T	.	.	0.102	0.17785	B	.;.;.;.	.;.;.;.	1.096425	0.14803	11.34	0.91590322418489312	0.20871	0.02306	0.06624	N	AEFDHI	0.053774	0.09720	N	-0.867652622141759	0.11619	0.5616561	-1.11627097694866	0.07389	0.3592259	0.9796870116248	0.30054	0.119485	0.03058	0	0.059962	0.00310	0	0.134018	0.03721	0	0.075334	0.01956	0	.	.	4.24	-7.18	0.01354	-0.757000	0.04877	-2.321000	0.03903	-0.242000	0.07441	0.000000	0.06391	0.000000	0.08366	0.163000	0.20749	0.1913:0.0:0.5355:0.2731	6.816	0.23017	697	0.58201	Trypsin Inhibitor-like, cysteine rich domain|EGF-like domain;Trypsin Inhibitor-like, cysteine rich domain|EGF-like domain;Trypsin Inhibitor-like, cysteine rich domain|EGF-like domain;Trypsin Inhibitor-like, cysteine rich domain|EGF-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002518	0.000000	0.002717	0.000000	0.000000	0.000000	0.003049	0.011364	0.07143	1712.46	33	chr7	100784727	.	G	C	1712.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.718;DP=299;ExcessHet=0;FS=1.472;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.64;ReadPosRankSum=-0.675;SOR=0.854	GT:AD:DP:GQ:PL	0/1:52,65:117:99:1723,0,1232	6	0	1	0
chr7	100787922	100787922	G	A	exonic	ZAN	.	nonsynonymous SNV	ZAN:NM_003386:exon38:c.G7013A:p.R2338H,ZAN:NM_173059:exon38:c.G7013A:p.R2338H	.	424	1062	35	1	0	37	0.0171217	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.372	.	0.0002	0.00239617	0.0016	0.0002	0.0008	0.0005	0	0.0005	0.0063	0.0100	0.0012872	199	154602	rs199598152	0.0008	0.0008	0.0005	0.0011	0.0086	0.0007	0.0007	0.0081	0.0078	3.028e-05	0.0007	0.0034	0.0002	0	0.0075	0.0002	0.0015	0.0086	0.0006	0.0006	0.0003	0.0008	0.0073	0.0005	0.0004	0.0054	0.0047	0	0	0.0003	0.0027	0.0002	0	0.0072	0.0005	0.0010	0.0073	.	.	.	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.230964	0.15921	N	0.552996	0.999656	0.20771	N	.	.	.	.	.	.	.	.	.	0.09	0.07949	-1.0190	0.24041	T	0.040	0.17020	T	9	0.022127837	0.00545	T	.	.	.	0.372	0.69102	.	.	0.0297737177859	0.01360	0.7751872977740802	0.77468	0.0849059257558	0.09594	0.222604453564	0.01465	T	0.005068	0.04506	T	-0.112029	0.34435	T	0.0732665	0.75128	D	0.0352798235415309	0.02857	T	0.470053	0.13899	T	0.035594486	0.04218	0.04065576	0.04443	0.035594486	0.04217	0.04065576	0.04442	2.445	0.00035	T	.	.	0.059	0.00820	B	.;.;.;.	.;.;.;.	-0.413719	0.02162	0.210	0.40282737763205345	0.02833	0.05994	0.11957	N	AEFBI	0.046315	0.07678	N	-1.02626804236301	0.08061	0.3766705	-0.932325711519789	0.11334	0.5767601	1.84741990470518E-6	0.01202	0.053691	0.00478	0	0.059962	0.00310	0	0.060301	0.00762	0	0.058706	0.01089	0	.	.	4.63	0.676	0.17125	1.045000	0.29951	0.670000	0.20585	-1.868000	0.00555	0.965000	0.33920	0.012000	0.20211	0.012000	0.09680	0.568:0.1817:0.0944:0.1559	1.912	0.03090	698	0.58074	von Willebrand factor, type D domain|von Willebrand factor, type D domain|VWFC domain|von Willebrand factor, type D domain;von Willebrand factor, type D domain|von Willebrand factor, type D domain|VWFC domain|von Willebrand factor, type D domain;von Willebrand factor, type D domain|von Willebrand factor, type D domain|VWFC domain|von Willebrand factor, type D domain;von Willebrand factor, type D domain|von Willebrand factor, type D domain|VWFC domain|von Willebrand factor, type D domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003030	0.000000	0.005435	0.000000	0.000000	0.000000	0.003086	0.011450	0.07143	397.63	34	chr7	100787922	.	G	A	397.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.421;DP=231;ExcessHet=0;FS=1.216;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.47;ReadPosRankSum=1.49;SOR=0.4	GT:AD:DP:GQ:PL	0/1:21,21:42:99:408,0,454	6	0	1	0
chr7	100894064	100894064	C	T	exonic	ACHE	.	nonsynonymous SNV	ACHE:NM_000665:exon2:c.G169A:p.G57R,ACHE:NM_001282449:exon2:c.G169A:p.G57R,ACHE:NM_001302621:exon2:c.G169A:p.G57R,ACHE:NM_001302622:exon2:c.G169A:p.G57R,ACHE:NM_001367915:exon2:c.G169A:p.G57R,ACHE:NM_001367917:exon2:c.G169A:p.G57R,ACHE:NM_001367918:exon2:c.G370A:p.G124R,ACHE:NM_001367919:exon2:c.G367A:p.G123R	.	412	1067	43	0	0	43	0.019752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	.	0.0002	0.00279553	0.0027	0.0004	0.0010	0	0	0.0007	0.0055	0.0202	0.0016494	255	154602	rs17234982	0.0010	0.0010	0.0007	0.0014	0.0119	0.0010	0.0010	0.0113	0.0110	0.0002	0.0008	0.0032	2.564e-05	3.942e-05	0.0076	0.0002	0.0017	0.0119	0.0006	0.0006	0.0004	0.0009	0.0098	0.0005	0.0005	0.0075	0.0068	0.0001	0	0.0003	0.0026	0.0002	0	0.0102	0.0004	0.0005	0.0098	0.022	0.52492	D	0.096	0.43913	T	0.002	0.30128	B	0.003	0.18489	B	0.001147	0.40056	N	0.245457	0.704821	0.33458	D	1.965	0.53209	M	1.8	0.67712	T	-2.36	0.60348	N	0.167	0.18239	-0.5933	0.65089	T	0.208	0.56785	T	10	0.0068814754	0.00156	T	.	.	.	0.081	0.23632	0.563	0.68364	0.546031525495	0.54257	0.6927882717497722	0.69218	1.03449336938	0.75540	0.579440712929	0.50007	T	0.451139	0.79198	T	-0.412736	0.01907	T	-0.353967	0.38750	T	0.0122342248694521	0.00197	T	0.79922	0.45429	T	0.20889196	0.43139	0.18832691	0.42117	0.20889196	0.43139	0.18832691	0.42116	-4.196	0.26722	T	.	.	0.176	0.40683	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	2.943997	0.39155	20.9	0.9778311975879791	0.35951	0.38872	0.26086	N	AEFDBCI	.	.	.	-0.606435506937808	0.18750	0.9759664	-0.641157075341141	0.18441	0.9850975	0.999997511312859	0.74766	0.608746	0.35421	0	0.627608	0.54475	0	0.61531	0.40942	0	0.562822	0.20929	0	.	.	4.85	3.97	0.45241	1.756000	0.38018	6.006000	0.52567	0.599000	0.40250	0.005000	0.17040	1.000000	0.68203	0.158000	0.20581	0.1779:0.7276:0.0:0.0944	6.530	0.21518	708	0.56926	Carboxylesterase, type B;.;Carboxylesterase, type B;.;Carboxylesterase, type B;Carboxylesterase, type B;Carboxylesterase, type B;.;Carboxylesterase, type B	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.000000	0.002717	0.002924	0.000000	0.000000	0.006098	0.011364	0.07143	228.45	34	chr7	100894064	.	C	T	228.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.526;DP=209;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.46;ReadPosRankSum=0.198;SOR=0.627	GT:AD:DP:GQ:PL	0/1:16,11:27:99:239,0,390	6	0	1	0
chr7	100952945	100952945	C	0	exonic	MUC3A	.	.	.	.	418	423	166	0	515	681	0.164032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	1756.07	430	chr7	100952945	.	C	*	1756.07	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-0.443;DP=3462;ExcessHet=14.2834;FS=0;MLEAC=5;MLEAF=0.357;MQ=58.69;MQRankSum=-8.839;QD=0.51;ReadPosRankSum=1.96;SOR=0.679	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:199,93:292:99:0|1:100952930_T_C:3306,0,8076:100952930	2	0	5	0
chr7	100954094	100954094	A	G	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.A2315G:p.H772R	.	808	657	57	0	0	57	0.0415755	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs933695519	0.0094	0.0084	0.0088	0.0099	0.0595	0.0091	0.0090	0.0528	0.0502	0.0016	0.0072	0.0349	3.479e-05	0.0009	0.0595	0.0082	0.0130	0.0215	0.0083	0.0088	0.0080	0.0086	0.0316	0.0079	0.0078	0.0275	0.0259	0.0016	0.0787	0.0127	0.0336	0.0004	0.0009	0.0479	0.0089	0.0152	0.0316	.	.	.	0.213	0.27056	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.03613	.	.	.	.	.	.	.	0.0039747953	0.00077	T	.	.	.	.	.	.	.	.	.	0.02810929783616011	0.02760	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.304669	0.05813	T	.	.	.	.	.	.	.	.	-6.03	0.46530	T	.	.	0.163	0.35931	B	.;.	.;.	0.036165	0.04538	1.230	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.370000	0.02682	-8.607000	0.00942	-0.344000	0.05652	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1089.44	285	chr7	100954094	.	A	G	1089.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-3.54;DP=2122;ExcessHet=0;FS=1.294;MLEAC=1;MLEAF=0.071;MQ=56.09;MQRankSum=4.67;QD=6.56;ReadPosRankSum=0.267;SOR=0.564	GT:AD:DP:GQ:PL	0/1:109,57:166:99:1100,0,3068	6	0	1	0
chr7	100958300	100958300	G	0	exonic	MUC3A	.	.	.	.	218	0	0	4	4	12	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	4084.19	164	chr7	100958300	.	G	*	4084.19	.	AC=2;AF=0.333;AN=6;BaseQRankSum=4.46;DP=2697;ExcessHet=0.9691;FS=79.117;MLEAC=3;MLEAF=0.5;MQ=48.22;MQRankSum=2.3;QD=13.48;ReadPosRankSum=-1.538;SOR=1.538	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:92,25:117:99:0|1:100958283_G_T:573,0,2767:100958283	1	0	2	4
chr7	100958301	100958301	G	0	exonic	MUC3A	.	.	.	.	1236	33	0	10	243	263	0.232558	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	4090.19	162	chr7	100958301	.	G	*	4090.19	.	AC=2;AF=0.333;AN=6;DP=2695;ExcessHet=0.9691;FS=79.53;MLEAC=3;MLEAF=0.5;MQ=48.25;MQRankSum=2.29;QD=13.59;SOR=1.537	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:92,25:117:99:0|1:100958283_G_T:573,0,2767:100958283	1	0	2	4
chr7	100958304	100958304	G	0	exonic	MUC3A	.	.	.	.	1234	37	0	13	238	264	0.26	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	6718.16	164	chr7	100958304	.	G	*	6718.16	.	AC=2;AF=0.333;AN=6;DP=2697;ExcessHet=0.9691;FS=3.23;MLEAC=3;MLEAF=0.5;MQ=52.18;MQRankSum=-2.682;QD=22.17;SOR=0.699	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:92,25:117:99:0|1:100958283_G_T:573,0,2767:100958283	1	0	2	4
chr7	100958305	100958305	G	0	exonic	MUC3A	.	.	.	.	1235	37	1	5	244	255	0.129412	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	6615.17	166	chr7	100958305	.	G	*	6615.17	.	AC=2;AF=0.333;AN=6;DP=2699;ExcessHet=0.9691;FS=1.957;MLEAC=3;MLEAF=0.5;MQ=52.47;MQRankSum=-3.203;QD=21.69;SOR=0.709	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:92,25:117:99:0|1:100958283_G_T:573,0,2767:100958283	1	0	2	4
chr7	100958351	100958351	C	T	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.C6572T:p.S2191L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0015	0.0002	0.0002	0.0003	0.0002	0.0001	0.0002	0.0001	0.0002	0	0.0002	0	0.0002	0	0.0002	0.0003	0.0003	0.0009	0.0036	0.0018	0	0.0047	0	0	.	.	0.0047	0	0	0	0	0	.	0	0	0	.	.	.	0.143	0.33219	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.01825	.	.	.	.	.	.	.	0.083599836	0.13923	T	.	.	.	.	.	.	.	.	.	0.003207136216159852	0.00299	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.407359	0.10471	T	.	.	.	.	.	.	.	.	-3.875	0.22062	T	.	.	0.106	0.19720	B	.;.	.;.	-0.451785	0.02026	0.182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.448000	0.06893	-20.000000	0.00162	-1.469000	0.01073	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	808	0.43318	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	218.58	386	chr7	100958351	.	C	T	218.58	.	AC=1;AF=0.5;AN=2;BaseQRankSum=2.26;DP=2737;ExcessHet=0;FS=4.2;MLEAC=2;MLEAF=1;MQ=55.32;MQRankSum=-8.33;QD=2.46;ReadPosRankSum=-3.221;SOR=0.77	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:75,14:89:99:0|1:100958283_G_T:221,0,2998:100958283	0	0	1	6
chr7	100991287	100991287	A	G	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.A724G:p.T242A	.	427	1067	26	2	0	30	0.0138632	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.00652888354005	.	.	0.0038	0.0009	0	0	0	0.0009	0.0084	0.0090	0.0021927	339	154602	rs61746396	0.0009	0.0009	0.0006	0.0012	0.0091	0.0009	0.0009	0.0086	0.0083	6.332e-05	0.0005	0	0.0014	2.832e-05	0.0072	0.0003	0.0017	0.0091	0.0007	0.0007	0.0005	0.0009	0.0086	0.0006	0.0005	0.0065	0.0058	9.681e-05	0	0.0006	0	0.0012	0	0.0103	0.0006	0.0005	0.0086	0.087	0.32453	T	0.53	0.10572	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.955	0.23872	L	2.81	0.10975	T	-0.6	0.17834	N	0.02	0.00308	-0.9533	0.40398	T	0.011	0.03996	T	7	0.00432986	0.00088	T	0.006529	0.17215	T	0.047	0.12962	0.2	0.11384	0.0138822411134	0.00435	0.006682807604354214	0.00636	.	.	0.515609204769	0.41008	T	0.002028	0.01432	T	-0.737633	0.00021	T	-0.826221	0.01331	T	0.0112506452045914	0.00166	T	0.211379	0.02951	T	0.030813508	0.02810	0.034640256	0.02566	0.030813508	0.02810	0.034640256	0.02566	-1.031	0.01310	T	.	.	0.108	0.20430	B	.;.	.;.	0.644882	0.10131	6.878	0.47128776754686663	0.03829	0.00206	0.01180	N	AEFBI	0.027544	0.02270	N	-1.59742179293579	0.01277	0.05559555	-1.76777407221818	0.00868	0.0387976	5.03922736043929E-4	0.07176	0.516011	0.20929	0	0.610034	0.51514	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	0.713	-1.43	0.08418	0.338000	0.19599	-2.494000	0.03685	-1.185000	0.01382	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2047:0.0:0.5827:0.2125	4.488	0.11212	818	0.41518	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002364	0.000000	0.007576	0.000000	0.000000	0.000000	0.011236	0.000000	0.07143	2093.44	258	chr7	100991287	.	A	G	2093.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.06;DP=1559;ExcessHet=0;FS=10.716;MLEAC=1;MLEAF=0.071;MQ=59.76;MQRankSum=-2.025;QD=10.68;ReadPosRankSum=0.562;SOR=0.93	GT:AD:DP:GQ:PL	0/1:113,83:196:99:2104,0,2995	6	0	1	0
chr7	100991620	100991620	G	A	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.G1057A:p.G353S	.	428	1068	25	1	0	27	0.0124827	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.0272967915154	.	0.00219649	0.0036	0.0009	0	0	0	0.0007	0.0084	0.0086	0.0006209	96	154602	rs201915926	0.0009	0.0008	0.0006	0.0012	0.0088	0.0008	0.0008	0.0082	0.0080	6.331e-05	0.0005	0	0.0014	0	0.0072	0.0003	0.0016	0.0088	0.0006	0.0006	0.0004	0.0008	0.0081	0.0005	0.0005	0.0061	0.0054	7.219e-05	0	0.0005	0	0.0012	0	0.0102	0.0005	0.0005	0.0081	0.274	0.15823	T	0.556	0.09236	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	2.005	0.54552	M	2.38	0.15843	T	-0.57	0.17210	N	0.056	0.03841	-0.9628	0.38645	T	0.016	0.06473	T	7	0.0034188032	0.00060	T	0.027297	0.50125	D	0.066	0.19193	0.196	0.10839	0.0297737177859	0.01360	0.0030616590080894636	0.00285	.	.	0.555631101131	0.46650	T	0.004588	0.03998	T	-0.67315	0.00053	T	-0.733878	0.04154	T	0.0156005638217665	0.00356	T	0.336666	0.10471	T	0.042810567	0.06560	0.053620633	0.09069	0.042810567	0.06559	0.053620633	0.09068	-5.311	0.40052	T	.	.	0.116	0.23360	B	.;.	.;.	0.208761	0.05926	2.366	0.9752633119165024	0.34432	0.00698	0.02970	N	AEFDBI	0.045326	0.07401	N	-1.03323322436739	0.07920	0.3696046	-1.17181321402914	0.06384	0.307152	2.89149351587455E-4	0.06355	0.516011	0.20929	0	0.610034	0.51514	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	0.637	0.637	0.16907	0.262000	0.18229	-2.252000	0.03995	0.205000	0.17943	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	1.0E-4:0.0:0.9999:0.0	7.225	0.25185	818	0.41518	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002415	0.000000	0.006944	0.000000	0.000000	0.000000	0.011494	0.000000	0.07143	1914.44	174	chr7	100991620	.	G	A	1914.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.15;DP=1478;ExcessHet=0;FS=0.604;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.85;ReadPosRankSum=-0.055;SOR=0.674	GT:AD:DP:GQ:PL	0/1:78,71:149:99:1925,0,1902	6	0	1	0
chr7	100991846	100991846	C	A	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.C1283A:p.S428Y	.	418	1078	26	0	0	26	0.0119157	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.0148951942751	.	0.00219649	0.0036	0.0009	0	0	0	0.0008	0.0085	0.0086	0.0006274	97	154602	rs199682941	0.0008	0.0008	0.0005	0.0011	0.0083	0.0008	0.0008	0.0078	0.0076	6.332e-05	0.0004	0	0.0013	0	0.0072	0.0003	0.0014	0.0083	0.0006	0.0006	0.0004	0.0007	0.0068	0.0005	0.0004	0.0050	0.0044	4.811e-05	0	0.0005	0	0.0012	0	0.0102	0.0005	0.0005	0.0068	0.0	0.91255	D	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.695	0.17993	N	2.64	0.12780	T	-0.21	0.12472	N	0.093	0.07262	-0.9854	0.33735	T	0.016	0.06711	T	7	0.0058657527	0.00131	T	0.014895	0.35312	T	0.003	0.00094	0.372	0.38340	0.0551355673512	0.04727	0.0014204684338557797	0.00131	.	.	0.489761143923	0.37405	T	0.003088	0.02494	T	-0.680057	0.00048	T	-0.744364	0.03709	T	0.00730699837617062	0.00084	T	0.412159	0.10706	T	0.05088362	0.09261	0.06929341	0.14581	0.05088362	0.09261	0.06929341	0.14581	-8.734	0.68273	D	.	.	0.406	0.59893	A	.;.	.;.	0.187972	0.05743	2.189	0.21548082113622077	0.00826	0.00251	0.01383	N	AEFDBI	0.041534	0.06327	N	-1.3061415785592	0.03604	0.1612931	-1.49614873347399	0.02376	0.1091589	1.92969815790567E-4	0.05898	0.554377	0.28877	0	0.626922	0.53725	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	0.131	-0.261	0.12322	-2.511000	0.01035	-3.971000	0.02419	-1.212000	0.01350	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.3343:0.0:0.6657	3.797	0.08262	818	0.41518	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002353	0.000000	0.006757	0.000000	0.000000	0.000000	0.010989	0.000000	0.07143	1696.44	338	chr7	100991846	.	C	A	1696.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.662;DP=2029;ExcessHet=0;FS=3.257;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.96;ReadPosRankSum=2.04;SOR=0.926	GT:AD:DP:GQ:PL	0/1:140,73:213:99:1707,0,3928	6	0	1	0
chr7	100992782	100992782	C	T	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.C2219T:p.T740I	.	428	1082	12	0	0	12	0.00551471	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.00919886808956	.	.	.	.	.	.	.	.	.	.	.	.	.	rs752686878	1.951e-05	0.0003	1.711e-05	2.197e-05	0.0007	1.336e-05	1.145e-05	0.0002	0.0001	0	0	0	0.0002	0	0.0007	5.562e-06	8.63e-05	7.63e-05	2.631e-05	0.0001	1.286e-05	4.04e-05	0.0002	8.15e-06	5.15e-06	.	.	0	0	0	0	0.0002	0	0	1.471e-05	0.0005	0.0002	0.0	0.91255	D	0.012	0.63918	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.895	0.50365	L	2.74	0.11730	T	-0.71	0.20145	N	0.052	0.02964	-0.9784	0.35368	T	0.017	0.07045	T	7	0.089324325	0.15462	T	0.009199	0.24177	T	0.011	0.01250	0.226	0.15109	0.0401082797425	0.02173	0.008974762183185991	0.00860	.	.	0.501668989658	0.39061	T	0.001914	0.01327	T	-0.322377	0.06705	T	-0.700848	0.05780	T	0.0646935400231275	0.07885	T	0.338366	0.07261	T	0.07014213	0.15424	0.050078113	0.07785	0.07014213	0.15424	0.050078113	0.07785	-7.607	0.58360	D	.	.	0.336	0.55651	B	.;.	.;.	1.123112	0.15092	11.58	0.25701254249345079	0.01197	0.00151	0.00912	N	AEFBI	0.030792	0.03167	N	-0.970771451634389	0.09232	0.4360856	-1.1701442174679	0.06413	0.3086505	1.24926252786005E-5	0.02871	0.615465	0.37627	0	0.633656	0.55848	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	0.481	-0.69	0.10741	-0.056000	0.11744	0.213000	0.15984	0.225000	0.18106	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.6801:0.0:0.3199	4.438	0.10985	818	0.41518	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	148.44	346	chr7	100992782	.	C	T	148.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.838;DP=1973;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=36.05;MQRankSum=-0.642;QD=0.36;ReadPosRankSum=-1.347;SOR=0.73	GT:AD:DP:GQ:PL	0/1:366,51:417:99:159,0,9708	6	0	1	0
chr7	100994375	100994375	C	T	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.C3812T:p.P1271L	.	921	585	5	11	0	27	0.0225564	.	.	.	2826000	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.110	.	.	0.00179712	0.0091	0.0065	0	0	0	0.0021	0.0147	0.0178	0.0003458	9	26028	rs537007543	0.0018	0.0013	0.0011	0.0024	0.0189	0.0017	0.0016	0.0179	0.0175	0.0002	0.0005	0	0.0002	0	0.0125	0.0004	0.0031	0.0189	0.0001	0.0007	0.0001	0.0001	0.0017	4.836e-05	3.348e-05	0.0003	0.0001	0	0	0	0	0	0	0.0066	0.0001	0	0.0017	0.102	0.31088	T	0.077	0.43344	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0	0.06538	N	2.47	0.14907	T	-0.91	0.24460	N	0.036	0.01068	-0.9888	0.32903	T	0.015	0.05801	T	6	0.0043216944	0.00087	T	.	.	.	0.110	0.31079	0.16	0.06396	0.0762999501168	0.06990	0.0031553020424399596	0.00294	.	.	0.434693872929	0.29851	T	0.006599	0.06028	T	-0.399654	0.02327	T	-0.811852	0.01624	T	0.0127694814109322	0.00217	T	0.39686	0.10010	T	0.031645462	0.03042	0.07101663	0.15156	0.031645462	0.03042	0.07101663	0.15155	-5.497	0.41840	T	.	.	0.166	0.36515	B	.;.	.;.	0.266556	0.06444	2.918	0.37342175000060618	0.02455	0.00359	0.01841	N	AEFI	0.028458	0.02510	N	-1.41490276670712	0.02507	0.1108218	-1.59957104650805	0.01658	0.07526399	1.73132100501466E-4	0.05786	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	0.713	-1.43	0.08418	0.061000	0.14242	-5.476000	0.01704	-0.914000	0.02241	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	818	0.41518	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.009317	0.000000	0.000000	0.000000	0.000000	0.000000	0.017857	0.071429	0.25	561.11	.	chr7	100994375	.	C	T	561.11	.	AC=2;AF=0.25;AN=8;DP=175;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.375;MQ=33.98;QD=28.06;SOR=1.402	GT:AD:DP:GQ:PL	1/1:0,20:20:60:576,60,0	3	1	0	3
chr7	101004767	101004767	G	A	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.G14204A:p.S4735N	.	429	1064	28	1	0	30	0.0139018	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.00575888847817	.	0.00219649	0.0037	0.0010	0	0	0	0.0008	0.0087	0.0086	0.0006339	98	154602	rs138470062	0.0009	0.0008	0.0006	0.0012	0.0088	0.0008	0.0008	0.0082	0.0080	6.333e-05	0.0005	0	0.0014	0	0.0072	0.0003	0.0016	0.0088	0.0006	0.0006	0.0004	0.0008	0.0079	0.0005	0.0005	0.0059	0.0052	7.226e-05	0	0.0005	0	0.0012	0	0.0102	0.0005	0.0005	0.0079	0.015	0.52492	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.61	0.41143	L	2.68	0.12371	T	-0.21	0.10308	N	0.03	0.02088	-0.9516	0.40695	T	0.013	0.05129	T	7	0.0056373775	0.00125	T	0.005759	0.14952	T	0.013	0.01715	.	.	0.0401082797425	0.02173	0.005756498971179786	0.00545	.	.	0.564242482185	0.47865	T	0.00207	0.01480	T	-0.717392	0.00029	T	-0.797429	0.01968	T	0.0102664176472143	0.00140	T	0.238676	0.03398	T	0.06430783	0.13631	0.07049499	0.14985	0.06430783	0.13631	0.07049499	0.14985	-6.95	0.53668	T	.	.	0.182	0.39596	B	.;.	.;.	-0.548894	0.01717	0.126	0.2869108453473157	0.01486	0.00274	0.01486	N	AEFDBI	0.040935	0.06156	N	-1.02390813635653	0.08110	0.3790993	-1.21485078499716	0.05670	0.2708518	1.13364447858699E-4	0.05269	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	0.596	-1.19	0.09091	-0.084000	0.11233	-0.735000	0.07644	0.242000	0.18252	0.026000	0.20160	0.000000	0.08366	0.007000	0.07825	0.0:0.3165:0.3679:0.3156	2.561	0.04482	818	0.41518	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001211	0.000000	0.007576	0.000000	0.000000	0.000000	0.005814	0.000000	0.07143	1608.44	146	chr7	101004767	.	G	A	1608.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.385;DP=1017;ExcessHet=0;FS=6.393;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.93;ReadPosRankSum=0.408;SOR=0.836	GT:AD:DP:GQ:PL	0/1:41,60:101:99:1619,0,994	6	0	1	0
chr7	101037065	101037065	A	C	exonic	MUC17	.	nonsynonymous SNV	MUC17:NM_001040105:exon3:c.A5649C:p.E1883D	.	424	1073	16	1	8	26	0.00831793	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.000474894215332	7.7e-05	0.00119808	0.0007	0.0002	0	0.0012	0	0.0001	0.0022	0.0044	0.0006468	100	154602	rs148987719	0.0004	0.0004	0.0003	0.0006	0.0045	0.0004	0.0004	0.0041	0.0040	0	6.968e-05	0	0.0012	0	0.0039	0.0001	0.0008	0.0045	0.0002	0.0002	0.0002	0.0003	0.0024	0.0002	0.0002	0.0013	0.0010	7.758e-05	0	0	0	0.0011	0	0.0068	0.0002	0	0.0024	0.053	0.38863	T	.	.	.	0.023	0.18885	B	0.006	0.12133	B	.	.	.	.	1	0.08975	N	1.775	0.45938	L	4.25	0.02564	T	-0.78	0.21644	N	0.048	0.01999	-0.9127	0.46518	T	0.005	0.01761	T	9	0.0045764446	0.00095	T	4.75E-4	0.00124	T	0.029	0.06676	0.099	0.01433	0.0138822411134	0.00435	0.0033545964531929563	0.00313	.	.	0.359026581049	0.19243	T	0.017861	0.14499	T	-0.706273	0.00034	T	-0.787296	0.02240	T	0.0254307308112406	0.01330	T	0.454955	0.12997	T	0.04618515	0.07687	0.044919204	0.05928	0.04618515	0.07687	0.044919204	0.05928	-7.002	0.54048	T	.	.	0.169	0.37102	B	.	.	-0.671318	0.01388	0.080	0.11411634756362264	0.00171	0.00133	0.00820	N	AEFBI	0.054479	0.09908	N	-2.06728632942504	0.00151	0.006466167	-2.18535756437226	0.00121	0.005306158	0.266074738333487	0.18842	0.487112	0.14033	0	0.59043	0.45803	0	0.59043	0.30614	0	0.564101	0.26826	0	.	.	0.824	-1.65	0.07849	-3.589000	0.00471	-12.134000	0.00548	-1.900000	0.00525	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4856:0.1705:0.1734:0.1705	1.018	0.01417	830	0.39242	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.001359	0.002924	0.000000	0.000000	0.003049	0.000000	0.07143	6359.44	454	chr7	101037065	.	A	C	6359.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.25;DP=3478;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=57.83;MQRankSum=2.85;QD=17.05;ReadPosRankSum=2.93;SOR=0.713	GT:AD:DP:GQ:PL	0/1:197,176:373:99:6370,0,7506	6	0	1	0
chr7	101039086	101039086	C	T	exonic	MUC17	.	nonsynonymous SNV	MUC17:NM_001040105:exon3:c.C7670T:p.T2557I	.	430	1076	16	0	0	16	0.00738007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.00376373145271	7.7e-05	0.00119808	0.0007	0.0002	0	0.0012	0	0.0001	0.0022	0.0041	0.0006662	103	154602	rs139836389	0.0004	0.0004	0.0003	0.0005	0.0039	0.0004	0.0004	0.0036	0.0035	0	6.708e-05	0	0.0010	0	0.0038	0.0001	0.0008	0.0039	0.0002	0.0002	0.0002	0.0002	0.0021	0.0002	0.0001	0.0011	0.0009	7.246e-05	0	0	0	0.0010	0	0.0068	0.0002	0	0.0021	0.167	0.23095	T	.	.	.	0.099	0.25639	B	0.021	0.19346	B	.	.	.	.	1	0.08975	N	1.79	0.46772	L	4.3	0.02437	T	-1.64	0.39314	N	0.089	0.06720	-0.9336	0.43605	T	0.007	0.02518	T	9	0.006146103	0.00138	T	0.003764	0.08744	T	0.021	0.04004	.	.	0.0401082797425	0.02173	0.0016651797162687669	0.00154	.	.	0.279055923223	0.07361	T	0.015065	0.12707	T	-0.718406	0.00028	T	-0.804998	0.01780	T	0.0270574077305289	0.01552	T	0.29797	0.05545	T	0.037871405	0.04938	0.04760821	0.06894	0.037871405	0.04938	0.04760821	0.06894	-5.6	0.42792	T	.	.	0.166	0.36535	B	.	.	0.104022	0.05051	1.594	0.26352468489059955	0.01258	0.02982	0.07833	N	AEFBI	0.063309	0.12228	N	-1.05805504641411	0.07430	0.3451443	-1.16035633504142	0.06584	0.3173967	0.00950042847536221	0.11864	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.953	0.953	0.18714	-0.101000	0.10943	-0.980000	0.06715	0.311000	0.19140	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:1.0:0.0:0.0	7.902	0.28905	835	0.38313	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001586	0.000000	0.001359	0.004098	0.000000	0.000000	0.003049	0.000000	0.07143	4679.44	175	chr7	101039086	.	C	T	4679.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.77;DP=2835;ExcessHet=0;FS=1.76;MLEAC=1;MLEAF=0.071;MQ=59.98;MQRankSum=-0.906;QD=13.45;ReadPosRankSum=-0.678;SOR=0.757	GT:AD:DP:GQ:PL	0/1:158,190:348:99:4690,0,3899	6	0	1	0
chr7	101048035	101048035	C	T	exonic	MUC17	.	nonsynonymous SNV	MUC17:NM_001040105:exon4:c.C12455T:p.T4152I	.	427	1078	17	0	0	17	0.00782329	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.000655838411005	7.7e-05	0.000998403	0.0006	0.0002	0	0.0001	0	0.0001	0.0022	0.0040	0.0005369	83	154602	rs143621027	0.0004	0.0004	0.0003	0.0005	0.0038	0.0003	0.0003	0.0035	0.0033	0	6.849e-05	0	2.554e-05	0	0.0038	0.0001	0.0006	0.0038	0.0002	0.0002	0.0002	0.0002	0.0021	0.0001	0.0001	0.0011	0.0009	4.819e-05	0	0	0	0.0002	0	0.0068	0.0002	0	0.0021	0.101	0.30375	T	.	.	.	0.162	0.28404	B	0.017	0.18140	B	.	.	.	.	1	0.08975	N	1.005	0.25186	L	4.52	0.01997	T	-0.67	0.19297	N	0.098	0.07949	-0.9806	0.34863	T	0.005	0.01615	T	9	0.010363042	0.00231	T	6.56E-4	0.00350	T	0.002	0.00045	.	.	0.0297737177859	0.01360	0.2205527979671089	0.21970	.	.	0.381358623505	0.22449	T	0.018036	0.14606	T	-0.717832	0.00028	T	-0.805365	0.01772	T	0.0204807295817358	0.00748	T	0.165383	0.01527	T	0.029359698	0.02419	0.04025959	0.04309	0.029359698	0.02418	0.04025959	0.04309	-5.502	0.41886	T	.	.	0.113	0.22354	B	.	.	-2.485111	0.00033	0.001	0.16802934236988018	0.00465	0.00141	0.00861	N	AEFDBI	0.028334	0.02477	N	-1.84179151557109	0.00451	0.01938912	-1.99479519721898	0.00314	0.01386845	0.968884821732987	0.29086	0.487112	0.14033	0	0.59043	0.45803	0	0.59043	0.30614	0	0.564101	0.26826	0	.	.	4.05	-8.11	0.00953	-4.463000	0.00264	-20.000000	0.00162	-1.990000	0.00455	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2984:0.1461:0.0:0.5555	6.274	0.20178	835	0.38313	EGF-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.001359	0.002924	0.000000	0.000000	0.003049	0.000000	0.07143	650.63	37	chr7	101048035	.	C	T	650.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.849;DP=225;ExcessHet=0;FS=6.932;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.46;ReadPosRankSum=2.12;SOR=0.16	GT:AD:DP:GQ:PL	0/1:19,26:45:99:661,0,544	6	0	1	0
chr7	102639168	102639168	G	T	exonic	UPK3BL1	.	nonsynonymous SNV	UPK3BL1:NM_001114403:exon4:c.C517A:p.P173T	.	383	1137	2	0	0	2	0.000878735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.193	0.155512545062	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.15e-06	3.421e-06	0	4.358e-06	2.527e-05	5.7e-07	1.6e-07	4.2e-06	1.57e-06	0	0	0	0	0	0	9.299e-07	0	2.527e-05	0	6.567e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.015	0.52492	D	0.008	0.67890	D	.	.	.	.	.	.	.	.	.	.	0.999792	0.23003	N	3.1	0.87590	M	-0.26	0.67187	T	-4.59	0.78891	D	0.472	0.50778	-0.6491	0.62753	T	0.352	0.71541	T	7	0.31197083	0.48661	T	0.155513	0.83644	D	0.193	0.47281	0.617	0.75116	0.0482279557977	0.04254	0.3472680319508932	0.34640	.	.	0.761209726334	0.76109	T	0.186126	0.53932	T	-0.0552951	0.43639	T	-0.317204	0.42880	T	0.706302881240845	0.41020	D	.	.	.	0.09131583	0.21395	0.1371235	0.32785	0.09131583	0.21394	0.1371235	0.32784	-10.12	0.74627	D	.	.	0.182	0.39511	B	.	.	2.565188	0.33231	19.28	0.99421488818063908	0.63790	0.03522	0.08707	N	AEFDI	0.047620	0.08039	N	-0.418248889542322	0.24829	1.343477	-0.642197557945187	0.18413	0.9835654	4.93248585873633E-6	0.01202	0.706298	0.61202	0	0.659464	0.62310	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	1.82	1.82	0.24209	1.607000	0.36447	5.153000	0.47762	0.341000	0.19778	0.014000	0.18986	1.000000	0.68203	0.215000	0.22324	0.0:0.0:1.0:0.0	7.046	0.24227	496	0.76301	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	450.44	38	chr7	102639168	.	G	T	450.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.073;DP=356;ExcessHet=0;FS=0.74;MLEAC=1;MLEAF=0.071;MQ=43.99;MQRankSum=-2.499;QD=3.36;ReadPosRankSum=0.176;SOR=0.604	GT:AD:DP:GQ:PL	0/1:100,34:134:99:461,0,2182	6	0	1	0
chr7	102934282	102934282	G	C	exonic	LRRC17	.	nonsynonymous SNV	LRRC17:NM_001031692:exon2:c.G369C:p.E123D,LRRC17:NM_005824:exon2:c.G369C:p.E123D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.00550950631605	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.541	0.10678	T	0.0	0.02946	B	0.002	0.06944	B	0.004721	0.33446	N	0.207615	1	0.81001	D	-0.18	0.04256	N	0.26	0.59314	T	2.97	0.00304	N	0.088	0.06587	-0.9900	0.32601	T	0.059	0.24871	T	10	0.0402624	0.02580	T	0.00551	0.14197	T	0.102	0.29158	0.593	0.72247	0.630674063255	0.62765	0.32803734693529624	0.32716	0.23164822142	0.25718	0.39575278759	0.24477	T	0.001762	0.01186	T	-0.263963	0.12439	T	-0.616941	0.11426	T	0.0953304618597031	0.11836	T	0.758424	0.38228	T	0.07261241	0.16165	0.063943654	0.12744	0.07261241	0.16165	0.063943654	0.12743	-1.533	0.03110	T	.	.	0.084	0.33156	B	.;.	.;.	1.403225	0.18178	13.59	0.79853046318071419	0.12930	0.67709	0.33531	D	AEFDBIJ	0.199371	0.32618	N	-0.6476857485773	0.17528	0.9027043	-0.402716744649766	0.24916	1.367225	0.999999761740133	0.74766	0.706298	0.61202	0	0.59043	0.45803	0	0.338622	0.05889	2	0.613276	0.41899	0	.	.	5.52	3.61	0.40494	0.038000	0.13749	0.020000	0.13575	0.676000	0.76740	0.830000	0.30133	0.455000	0.24973	0.993000	0.69303	0.1452:0.1381:0.7166:0.0	7.418	0.26231	455	0.79073	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2857	412.11	59	chr7	102934282	.	G	C	412.11	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-2.405;DP=373;ExcessHet=2.5225;FS=246.061;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=1.64;ReadPosRankSum=1.36;SOR=7.941	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:33,5:40:44:.:.:44,0,1068:.	3	0	4	0
chr7	102934283	102934283	G	C	exonic	LRRC17	.	nonsynonymous SNV	LRRC17:NM_001031692:exon2:c.G370C:p.A124P,LRRC17:NM_005824:exon2:c.G370C:p.A124P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.686	0.102285869568	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.642e-05	1.362e-06	1.376e-06	8.996e-07	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.996e-07	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.013	0.63109	D	1.0	0.90584	D	0.999	0.92359	D	0.000018	0.62929	D	0.000000	1	0.81001	D	2.48	0.72069	M	0.09	0.61443	T	-4.69	0.79743	D	0.866	0.91621	-0.0790	0.80575	T	0.414	0.76122	T	10	0.83823025	0.82978	D	0.102286	0.77566	D	0.686	0.88538	0.608	0.74063	0.884098710478	0.88296	0.8411723386298476	0.84077	1.02869255285	0.75355	0.595906376839	0.52327	T	0.053493	0.29459	T	0.351657	0.86616	D	0.267354	0.86441	D	0.998028337955475	0.93033	D	0.90001	0.65919	D	0.958163	0.97095	0.93957394	0.97739	0.958163	0.97095	0.93957394	0.97740	-8.842	0.66674	D	.	.	0.973	0.90137	P	.;.	.;.	4.615823	0.73244	26.0	0.99771405677723168	0.85918	0.99139	0.91801	D	AEFDBIJ	0.974099	0.99537	D	0.77679732466033	0.84635	8.343356	0.724224124696295	0.84219	8.231214	0.999999999999933	0.74766	0.706298	0.61202	0	0.59043	0.45803	0	0.338622	0.05889	2	0.613276	0.41899	0	.	.	5.52	4.65	0.57626	8.066000	0.89276	4.610000	0.44033	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0697:0.0:0.9303:0.0	14.775	0.69347	455	0.79073	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2857	459.12	61	chr7	102934283	.	G	C	459.12	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-1.418;DP=470;ExcessHet=2.5225;FS=339.92;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=1.79;ReadPosRankSum=0.875;SOR=8.581	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:33,7:41:72:.:.:72,0,1075:.	3	0	4	0
chr7	105613788	105613788	C	T	exonic	ATXN7L1	.	nonsynonymous SNV	ATXN7L1:NM_001318229:exon10:c.G1898A:p.R633Q	.	343	1128	47	4	0	55	0.0237992	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	.	.	0.00279553	0.0070	0.0033	0.0118	0	0.0031	0.0122	0.0087	0.0038	0.0023156	358	154602	rs150948758	0.0075	0.0072	0.0077	0.0074	0.0488	0.0074	0.0074	0.0440	0.0422	0.0030	0.0061	0.0188	5.605e-05	0.0016	0.0488	0.0079	0.0091	0.0043	0.0061	0.0061	0.0061	0.0062	0.0112	0.0058	0.0057	0.0099	0.0093	0.0019	0.0011	0.0112	0.0161	0.0004	9.411e-05	0.0748	0.0082	0.0104	0.0039	1.0	0.00964	T	0.586	0.08332	T	.	.	.	.	.	.	.	.	.	.	1	0.20152	N	.	.	.	2.3	0.16953	T	-0.23	0.10656	N	.	.	-0.9613	0.38936	T	0.010	0.03719	T	8	0.0031974912	0.00054	T	.	.	.	0.003	0.00094	.	.	0.285698343383	0.28168	.	.	.	.	.	.	.	0.00299	0.02391	T	-0.698583	0.00037	T	-0.768424	0.02820	T	0.00153828558999846	0.00016	T	0.530047	0.17581	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.04356	B	.;.	.;.	0.257686	0.06365	2.828	0.33731589378881932	0.02025	0.00246	0.01361	N	AEFDBCI	0.020237	0.00780	N	-1.6761752421521	0.00930	0.04025665	-1.77662531413548	0.00837	0.03738711	0.999917394399403	0.45857	0.67177	0.52595	0	0.588015	0.36545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.41	-6.95	0.01470	-0.178000	0.09775	-0.722000	0.07700	-1.563000	0.00944	0.264000	0.24988	0.002000	0.18203	0.240000	0.23001	0.1218:0.3483:0.124:0.4059	2.482	0.04309	921	0.19240	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	738.44	35	chr7	105613788	.	C	T	738.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.755;DP=299;ExcessHet=0;FS=3.524;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.91;ReadPosRankSum=-0.786;SOR=0.764	GT:AD:DP:GQ:PL	0/1:28,34:62:99:749,0,614	6	0	1	0
chr7	108565082	108565082	T	-	exonic	THAP5	.	frameshift deletion	THAP5:NM_001130475:exon3:c.297delA:p.K99Nfs*25,THAP5:NM_182529:exon3:c.171delA:p.K57Nfs*25	.	540	978	4	0	0	4	0.00204082	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0162	.	0.0012	0	0.0026	0.0017	0	0.0009	0	0.0026	3.84e-05	1	26028	rs745348876	0.0001	0.0014	0.0001	0.0001	0.0007	9.619e-05	9.063e-05	0.0004	0.0004	0.0002	0.0007	0.0002	8.534e-05	6.223e-05	0.0007	8.867e-05	7.137e-05	0.0002	2.649e-05	6.585e-05	1.295e-05	4.067e-05	0.0002	8.19e-06	5.17e-06	8.07e-06	3.02e-06	4.87e-05	0	6.61e-05	0	0.0002	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	96.2	34	chr7	108565081	.	AT	A	96.2	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0;DP=200;ExcessHet=0.3476;FS=2.066;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=4.18;ReadPosRankSum=0.15;SOR=0.193	GT:AD:DP:GQ:PL	0/1:15,4:19:63:63,0,379	5	0	2	0
chr7	121329800	121329800	G	T	exonic	WNT16	.	nonsynonymous SNV	WNT16:NM_016087:exon2:c.G299T:p.G100V,WNT16:NM_057168:exon2:c.G329T:p.G110V	.	.	.	.	.	.	.	.	.	.	.	4105386	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.930	0.513959680758	7.7e-05	.	8.643e-05	0	0	0.0001	0	7.933e-05	0	0.0002	7.76e-05	12	154602	rs374438180	5.648e-05	6.02e-05	4.25e-05	7.059e-05	0.0006	4.641e-05	4.265e-05	0.0002	0.0002	0	2.236e-05	0	2.519e-05	0	0.0006	4.227e-05	4.978e-05	0.0003	5.254e-05	5.253e-05	3.852e-05	6.722e-05	0.0001	2.556e-05	1.829e-05	4.764e-05	3.338e-05	0	0	0	0	0	0	0	0.0001	0.0005	0	0.001	0.78490	D	0.003	0.76473	D	1.0	0.90584	D	0.986	0.76916	D	0.000004	0.62929	D	0.105878	1	0.81001	D	4.025	0.96902	H	-1.03	0.76430	T	-6.73	0.92648	D	0.937	0.96072	0.579	0.91626	D	0.697	0.89539	D	10	0.9784225	0.97717	D	0.51396	0.95344	D	0.930	0.98341	.	.	0.937187609332	0.93654	0.8459104282893624	0.84552	0.627797579634	0.56854	0.667937934399	0.62543	T	0.862641	0.96965	D	0.20774	0.74618	D	0.352776	0.90426	D	0.929975807666779	0.59438	D	0.845015	0.52334	T	0.9668615	0.97962	0.93544495	0.97465	0.9668615	0.97962	0.93544495	0.97466	-10.401	0.76276	D	.	.	0.620	0.69698	P	.;.	.;.	5.207384	0.87374	29.2	0.9981478112973371	0.89797	0.98295	0.81357	D	AEFDGBHCI	0.951954	0.96697	D	0.962467670116143	0.94466	12.781	0.901940695140558	0.95657	13.83521	1.0	0.98316	0.59774	0.34471	0	0.491552	0.07993	0	0.503968	0.08637	0	0.63947	0.58350	0	.	.	5.3	5.3	0.74745	9.147000	0.93820	11.824000	0.97325	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:0.0:1.0:0.0	17.717	0.88247	829	0.39537	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.005848	0.000000	0.000000	0.000000	0.000000	0.08333	501.27	34	chr7	121329800	.	G	T	501.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.16;DP=234;ExcessHet=0;FS=1.573;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.17;ReadPosRankSum=0.631;SOR=0.376	GT:AD:DP:GQ:PL	0/1:9,22:31:99:511,0,179	5	0	1	1
chr7	127611947	127611947	G	A	exonic	PAX4	.	stopgain	PAX4:NM_001366111:exon8:c.C769T:p.Q257X,PAX4:NM_001366110:exon10:c.C769T:p.Q257X	Diabetes mellitus, type 2, Autosomal dominant;Maturity-onset diabetes of the young, type IX	.	.	.	.	.	.	.	0.9998	0.982	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	2.723e-06	0	2.319e-05	2.3e-07	9e-08	3.85e-06	1.44e-06	0	0	0	0	0	0	0	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.562921	0.05435	U	1.446390	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.803	0.92200	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.595077	0.97509	D	0.61701	0.97470	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.;.;.;.;.	High;.;.;.;.;.	10.129645	0.99587	45	0.99769616183590459	0.85750	0.90919	0.52510	D	AEFBI	0.708662	0.66300	D	0.918736277943961	0.92647	11.54504	0.776814023953049	0.88141	9.471509	0.999397892903159	0.39470	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.27	5.27	0.73797	4.392000	0.59421	9.580000	0.81027	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.938000	0.47775	0.0:0.0:1.0:0.0	14.741	0.69068	0	0.99858	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	470.83	20	chr7	127611947	.	G	A	470.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.583;DP=206;ExcessHet=0;FS=1.328;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.45;ReadPosRankSum=-1.028;SOR=0.475	GT:AD:DP:GQ:PL	0/1:14,21:35:99:481,0,303	6	0	1	0
chr7	128476784	128476784	G	A	exonic	METTL2B	.	nonsynonymous SNV	METTL2B:NM_018396:exon1:c.G19A:p.E7K	.	428	1080	14	0	0	14	0.00643974	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.0116461621903	7.7e-05	0.000599042	0.0003	0	0	0	0	0.0002	0.0012	0.0017	0.0002846	44	154602	rs199977243	0.0002	0.0002	0.0001	0.0002	0.0019	0.0001	0.0001	0.0011	0.0011	0	0.0002	0.0003	0	0	0.0019	7.014e-05	0.0002	0.0013	0.0002	0.0002	0.0001	0.0002	0.0023	0.0001	9.233e-05	0.0013	0.0010	4.811e-05	0	0	0	0.0002	0	0	0.0001	0	0.0023	0.16	0.23721	T	0.114	0.36765	T	0.004	0.12183	B	0.004	0.10090	B	0.024380	0.26274	N	0.407038	1	0.81001	D	1.87	0.49600	L	2.66	0.12575	T	-1.01	0.26639	N	0.373	0.41459	-1.0829	0.06795	T	0.029	0.12234	T	10	0.0066468716	0.00151	T	0.011646	0.29486	T	0.078	0.22779	.	.	0.136095386433	0.13204	0.15073968495123113	0.14995	0.213294650042	0.23841	0.588954508305	0.51346	T	0.009712	0.08820	T	-0.4793	0.00746	T	-0.485885	0.23824	T	0.0298386215000712	0.01965	T	0.721828	0.33531	T	0.09390128	0.22065	0.07543262	0.16604	0.09390128	0.22065	0.07543262	0.16604	-4.831	0.34951	T	.	.	0.116	0.23290	B	.	.	2.840325	0.37468	20.5	0.98725404892250723	0.45274	0.24507	0.22415	N	ALL	0.136985	0.25782	N	-0.881089939201643	0.11293	0.5442088	-0.940718694691746	0.11139	0.5656507	1.0	0.98316	0.468429	0.09910	2	0.504199	0.08210	0	0.504199	0.09095	0	0.273489	0.05413	2	.	.	2.64	2.64	0.30504	1.470000	0.34963	7.931000	0.75020	0.308000	0.19071	0.009000	0.18154	1.000000	0.68203	0.169000	0.20946	0.0:0.0:1.0:0.0	8.888	0.34573	351	0.85421	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.011364	0.07143	723.63	34	chr7	128476784	.	G	A	723.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.495;DP=260;ExcessHet=0;FS=4.38;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.4;ReadPosRankSum=0.243;SOR=0.596	GT:AD:DP:GQ:PL	0/1:45,32:77:99:734,0,1126	6	0	1	0
chr7	128910664	128910664	C	T	exonic	KCP	.	nonsynonymous SNV	KCP:NM_001366122:exon1:c.G13A:p.G5R,KCP:NM_199349:exon1:c.G13A:p.G5R	.	.	.	.	.	.	.	.	.	.	.	3265096	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0	0	0	0	0.0011	0	0	2.59e-05	4	154602	rs754016009	0.0001	0.0001	0.0001	0.0001	6.131e-05	9.114e-05	8.55e-05	4.807e-05	4.374e-05	3.586e-05	6.131e-05	0.0025	0	0	0	5.999e-05	0.0002	3.944e-05	5.254e-05	5.253e-05	8.99e-05	1.344e-05	7.349e-05	2.556e-05	1.829e-05	2.846e-05	1.858e-05	0	0	0	0.0009	0	0	0	7.349e-05	0	0	.	.	.	0.537	0.10173	T	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.01999	.	.	.	.	.	.	.	0.010753423	0.00238	T	.	.	.	.	.	.	.	0.181679512989	0.17746	0.1620082057187636	0.16121	.	.	0.525621116161	0.42418	T	0.005282	0.05119	T	-0.412597	0.01910	T	-0.498379	0.22515	T	.	.	.	0.40286	0.10299	T	0.058408823	0.11747	0.113918535	0.27496	0.058408823	0.11747	0.113918535	0.27495	-3.258	0.13201	T	.	.	0.172	0.39288	B	.;.;.	.;.;.	-0.555962	0.01696	0.123	0.91725594985467396	0.21022	0.01207	0.04296	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.983932351495446	0.30637	0.11394	0.02926	0	0.097471	0.02872	0	0.125351	0.03401	0	0.109499	0.03221	0	0.100235	0.22237	3.32	-2.28	0.06438	-4.813000	0.00212	-5.675000	0.01634	-0.315000	0.05944	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.0:0.2312:0.5505:0.2183	6.557	0.21662	510	0.75209	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001179	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.011111	0.08333	369.27	33	chr7	128910664	.	C	T	369.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.37;DP=178;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.39;ReadPosRankSum=2.03;SOR=0.673	GT:AD:DP:GQ:PL	0/1:9,15:24:99:379,0,165	5	0	1	1
chr7	130383723	130383723	A	G	exonic	CPA1	.	nonsynonymous SNV	CPA1:NM_001868:exon6:c.A625G:p.I209V	.	.	.	.	.	.	.	.	.	.	.	3380148	Hereditary_pancreatitis|not_provided	MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:676|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.044	0.00839530013719	.	.	8.238e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs782417364	6.157e-06	6.156e-06	5.445e-06	6.875e-06	0.0002	2.9e-06	2.1e-06	2.62e-06	1.68e-06	0	0	0	0	0	0.0002	6.295e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	0.22486	T	0.213	0.31936	T	0.008	0.14655	B	0.03	0.21741	B	0.000039	0.55875	N	0.191078	0.999952	0.52396	D	1.305	0.32671	L	2.79	0.11189	T	-0.7	0.21215	N	0.121	0.11197	-0.9891	0.32828	T	0.017	0.06855	T	10	0.18849161	0.34407	T	0.008395	0.22206	T	0.044	0.11924	0.67	0.80803	0.146414634003	0.14194	0.5907756020124769	0.59007	0.311717728956	0.33480	0.395566821098	0.24451	T	0.093141	0.39149	T	-0.29053	0.09583	T	-0.639616	0.09697	T	0.049874977901848	0.05478	T	0.685131	0.35599	T	0.1254398	0.29407	0.064121105	0.12806	0.1254398	0.29407	0.064121105	0.12806	-4.416	0.29773	T	0.22478138168265924	0.30360	0.091	0.30238	B	.;.;.;.	.;.;.;.	0.632674	0.10012	6.764	0.79689737115603065	0.12856	0.63169	0.32006	D	AEFDBI	0.412357	0.48246	N	-0.844266798956999	0.12192	0.5927582	-0.844375948606106	0.13422	0.6962196	0.99894752225426	0.38034	0.568482	0.32641	0	0.547309	0.14657	0	0.573078	0.19857	0	0.613276	0.41899	0	.	.	5.27	-0.0806	0.13040	0.862000	0.27553	0.094000	0.14556	0.756000	0.94297	0.208000	0.24400	0.000000	0.08366	0.039000	0.14166	0.6046:0.0:0.241:0.1543	4.151	0.09706	696	0.58299	Peptidase M14, carboxypeptidase A|Peptidase M14, carboxypeptidase A|Carboxypeptidase A, carboxypeptidase domain;Peptidase M14, carboxypeptidase A|Peptidase M14, carboxypeptidase A;Peptidase M14, carboxypeptidase A|Peptidase M14, carboxypeptidase A;Peptidase M14, carboxypeptidase A|Peptidase M14, carboxypeptidase A|Carboxypeptidase A, carboxypeptidase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1631.44	115	chr7	130383723	.	A	G	1631.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.426;DP=423;ExcessHet=0;FS=0.633;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12;ReadPosRankSum=0.725;SOR=0.626	GT:AD:DP:GQ:PL	0/1:66,70:136:99:1642,0,1638	6	0	1	0
chr7	130498215	130498215	G	A	exonic	MEST	.	nonsynonymous SNV	MEST:NM_001253900:exon5:c.G374A:p.R125H,MEST:NM_001253901:exon5:c.G389A:p.R130H,MEST:NM_001253902:exon5:c.G389A:p.R130H,MEST:NM_002402:exon5:c.G416A:p.R139H,MEST:NM_177524:exon5:c.G389A:p.R130H,MEST:NM_177525:exon5:c.G389A:p.R130H	.	426	1092	4	0	0	4	0.00182815	.	.	.	3985893	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.162	0.0279656902366	.	.	4.119e-05	0	0	0	0	1.499e-05	0	0.0002	3.23e-05	5	154602	rs782807870	3.215e-05	3.215e-05	2.042e-05	4.4e-05	0.0005	2.478e-05	2.22e-05	0.0001	7.838e-05	0	8.944e-05	0	0	0	0.0005	1.799e-05	9.935e-05	0.0002	3.286e-05	3.284e-05	1.285e-05	5.382e-05	0.0004	1.261e-05	7.98e-06	7.299e-05	3.032e-05	0	0	6.548e-05	0	0	0	0	1.47e-05	0.0005	0.0004	0.028	0.55530	D	0.108	0.37730	T	0.001	0.15093	B	0.001	0.08700	B	0.000038	0.55875	D	0.167577	0.99171	0.41456	D	-0.345	0.03330	N	-0.38	0.69027	T	-0.52	0.28084	N	0.269	0.32037	-0.8657	0.50849	T	0.161	0.49681	T	10	0.15474981	0.29183	T	0.027966	0.50711	D	0.162	0.41843	0.604	0.73586	0.778291592273	0.77625	0.2960231345667204	0.29515	1.09323110914	0.77499	0.395836293697	0.24489	T	0.020244	0.56219	T	-0.209675	0.19424	T	-0.302292	0.44482	T	0.146448872967301	0.16818	T	0.885311	0.61235	D	0.0294908	0.02453	0.037527844	0.03425	0.0294908	0.02453	0.037527844	0.03425	-3.858	0.25113	T	.	.	0.080	0.12560	B	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	3.752917	0.53807	23.4	0.99459720627371662	0.65736	0.86323	0.45581	D	AEFGBI	0.482793	0.52350	N	-0.0393733026193829	0.40078	2.37407	0.119659660562855	0.45555	2.816616	0.999983313667549	0.51787	0.706548	0.73137	0	0.633656	0.55848	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.33	3.14	0.35196	7.231000	0.77575	5.855000	0.50375	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.4088:0.0:0.5912:0.0	4.635	0.11907	900	0.24599	Alpha/beta hydrolase fold-1;.;.;.;Alpha/beta hydrolase fold-1;Alpha/beta hydrolase fold-1;Alpha/beta hydrolase fold-1;Alpha/beta hydrolase fold-1;Alpha/beta hydrolase fold-1;Alpha/beta hydrolase fold-1;Alpha/beta hydrolase fold-1;Alpha/beta hydrolase fold-1	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.005051	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	921.53	50	chr7	130498215	.	G	A	921.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.514;DP=265;ExcessHet=0;FS=0.921;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.75;ReadPosRankSum=1.2;SOR=0.839	GT:AD:DP:GQ:PL	0/1:29,38:67:99:932,0,663	6	0	1	0
chr7	149861724	149861724	C	G	exonic	ZNF862	.	nonsynonymous SNV	ZNF862:NM_001099220:exon7:c.C2564G:p.S855C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.136	0.00268261436776	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.37118	T	0.0	0.92824	D	0.995	0.67487	D	0.753	0.56122	P	0.002121	0.37183	N	0.123266	0.532	0.31484	N	1.895	0.50365	L	1.94	0.22678	T	-2.96	0.61722	D	0.572	0.59478	-1.0153	0.25240	T	0.071	0.28773	T	10	0.7075455	0.72834	D	0.002683	0.05492	T	0.136	0.36778	0.499	0.58991	0.421674004627	0.41782	0.6816089046593552	0.68099	0.630607113728	0.57042	0.53025406599	0.43070	T	0.211413	0.57217	T	-0.00564771	0.50874	T	-0.245889	0.50223	T	0.963822185993195	0.66773	D	0.775222	0.40690	T	0.1537277	0.34831	0.11400496	0.27517	0.1537277	0.34830	0.11400496	0.27517	-8.247	0.62741	D	0.4725953070738971	0.55276	0.145	0.32030	B	.	.	4.049064	0.59999	24.2	0.98644105005354787	0.44096	0.85920	0.45111	D	AEFDBHCI	0.238877	0.36093	N	0.499986195555809	0.67089	5.035472	0.536212808132557	0.70444	5.50616	0.999999999999063	0.74766	0.615465	0.37627	0	0.633656	0.55848	0	0.505578	0.09266	0	0.638833	0.57524	0	.	.	5.38	5.38	0.77279	3.860000	0.55706	5.133000	0.47665	0.599000	0.40250	0.994000	0.38300	1.000000	0.68203	0.992000	0.67800	0.0:1.0:0.0:0.0	14.665	0.68506	976	0.04745	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1250.44	47	chr7	149861724	.	C	G	1250.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.788;DP=394;ExcessHet=0;FS=1.722;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.89;ReadPosRankSum=0.383;SOR=0.507	GT:AD:DP:GQ:PL	0/1:39,51:90:99:1261,0,913	6	0	1	0
chr7	152229940	152229940	A	G	exonic	KMT2C	.	nonsynonymous SNV	KMT2C:NM_170606:exon18:c.T2959C:p.Y987H	.	526	320	669	7	0	683	0.516251	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.432	.	.	.	0.4728	0.4914	0.4863	0.4887	0.4732	0.4636	0.4765	0.4809	0.0018057	47	26028	rs77735469	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	.	.	.	1.0	0.90584	D	0.999	0.92359	D	0.001979	0.37549	U	0.000000	0.971252	0.38857	D	2.22	0.62911	M	-2.28	0.87512	D	-4.01	0.75456	D	0.934	0.93959	0.656	0.92620	D	0.754	0.91609	D	10	0.012159407	0.00262	T	.	.	.	0.815	0.94046	.	.	.	.	0.5529033843776924	0.55216	2.65390431601	0.98462	0.900072455406	0.96449	D	0.576893	0.86083	D	0.315486	0.84148	D	0.215397	0.83941	D	0.0127532117779022	0.00216	T	0.984602	0.94707	D	0.6018943	0.72793	0.5814447	0.75738	0.6018943	0.72794	0.5814447	0.75739	-9.256	0.69330	D	0.6635921527459159	0.73748	0.854	0.79986	P	.;.	.;.	4.408107	0.68175	25.2	0.99273378386417865	0.57627	0.99067	0.90742	D	AEFBI	0.864295	0.78306	D	0.740431229350387	0.82279	7.723933	0.698705506977523	0.82280	7.728171	0.999787248307013	0.43007	0.651	0.46895	0	0.708844	0.79440	0	0.602189	0.34648	0	0.683762	0.67416	0	.	.	4.67	4.67	0.58089	9.318000	0.95450	11.148000	0.87267	0.689000	0.82905	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	1.0:0.0:0.0:0.0	14.405	0.66648	929	0.16858	Zinc finger, PHD-finger|Zinc finger, RING-type|Zinc finger, PHD-type;Zinc finger, PHD-finger|Zinc finger, RING-type|Zinc finger, PHD-type	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.454123	0.322785	0.464481	0.464912	0.428571	0.473214	0.474638	0.463115	0.4286	4870.49	184	chr7	152229940	.	A	G	4870.49	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-0.631;DP=1690;ExcessHet=8.2628;FS=0;MLEAC=6;MLEAF=0.429;MQ=44.63;MQRankSum=0.809;QD=2.95;ReadPosRankSum=0.174;SOR=0.69	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:106,28:134:99:.:.:324,0,3673:.	1	0	6	0
chr7	152235831	152235831	C	G	exonic	KMT2C	.	nonsynonymous SNV	KMT2C:NM_170606:exon16:c.G2755C:p.V919L	.	523	804	188	7	0	202	0.111602	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.184	.	.	.	0.3064	0.3892	0.3854	0.3769	0.3614	0.2662	0.3017	0.2987	0.0009221	24	26028	rs111791757	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.465	0.08609	T	.	.	.	0.005	0.12996	B	0.006	0.12133	B	0.000997	0.40743	D	0.000000	0.909796	0.27531	N	1.04	0.26193	L	-1.76	0.83578	D	-0.87	0.23590	N	0.351	0.39254	-0.7817	0.56206	T	0.290	0.66182	T	10	0.001721412	0.00022	T	.	.	.	0.190	0.46781	.	.	.	.	0.3939079229526045	0.39305	1.16460324479	0.79582	0.551522254944	0.46072	T	0.082871	0.36927	T	-0.0536841	0.43886	T	-0.31489	0.43132	T	0.00291439180401243	0.00030	T	0.782522	0.41827	T	0.11401484	0.26920	0.058207095	0.10716	0.11401484	0.26920	0.058207095	0.10716	-2.714	0.07421	T	0.21301624123496365	0.28594	0.155	0.34361	B	.;.	.;.	2.476867	0.31934	18.89	0.93460886301440382	0.23247	0.88481	0.48429	D	AEFBI	0.274499	0.38967	N	-0.471234561374049	0.23027	1.233672	-0.289425091573026	0.28446	1.586133	2.17144164743047E-4	0.05997	0.736574	0.97449	0	0.732669	0.95671	0	0.601832	0.32385	0	0.756605	0.99741	0	.	.	5.0	3.05	0.34272	0.914000	0.28246	0.910000	0.22619	0.549000	0.26987	0.989000	0.36753	0.340000	0.24418	0.997000	0.79791	0.0:0.6447:0.2767:0.0786	9.075	0.35674	934	0.15400	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.351197	0.253086	0.383562	0.346491	0.125000	0.394737	0.307692	0.388000	0.2143	199.27	46	chr7	152235831	.	C	G	199.27	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-0.021;DP=450;ExcessHet=1.1394;FS=5.166;MLEAC=2;MLEAF=0.143;MQ=50.69;MQRankSum=-2.132;QD=0.97;ReadPosRankSum=-2.276;SOR=1.27	GT:AD:DP:GQ:PL	0/1:34,7:41:95:95,0,1363	4	0	3	0
chr7	158138399	158138399	C	T	exonic	PTPRN2	.	nonsynonymous SNV	PTPRN2:NM_001308267:exon6:c.G913A:p.V305M,PTPRN2:NM_130842:exon6:c.G976A:p.V326M,PTPRN2:NM_001308268:exon7:c.G1096A:p.V366M,PTPRN2:NM_002847:exon7:c.G1027A:p.V343M,PTPRN2:NM_130843:exon7:c.G1027A:p.V343M	.	428	1081	12	1	0	14	0.00643382	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	.	0.0023	0.0313498	0.0109	0.0077	0.0012	0.0909	0	0.0005	0.0078	0.0239	0.0102521	1585	154602	rs3752368	0.0044	0.0044	0.0039	0.0049	0.0788	0.0043	0.0043	0.0765	0.0755	0.0046	0.0009	0.0012	0.0788	0.0001	0.0049	0.0005	0.0078	0.0240	0.0060	0.0060	0.0055	0.0066	0.0881	0.0057	0.0056	0.0814	0.0788	0.0055	0	0.0024	0.0012	0.0881	0	0	0.0006	0.0080	0.0280	0.058	0.37750	T	0.254	0.33109	T	0.011	0.15914	B	0.01	0.14941	B	0.016495	0.01442	N	5.222610	1	0.08975	N	-0.205	0.04094	N	4.0	0.03239	T	-0.67	0.24026	N	0.041	0.01999	-0.9420	0.42298	T	0.001	0.00222	T	10	0.0018531382	0.00025	T	.	.	.	0.043	0.11576	.	.	.	.	0.19352542145355858	0.19270	0.21105830166	0.23610	0.35255536437	0.18298	T	0.037307	0.24427	T	-0.75878	0.00015	T	-0.789753	0.02171	T	0.00521713098286543	0.00056	T	0.607939	0.22935	T	0.032459017	0.03276	0.04098939	0.04556	0.032459017	0.03276	0.04098939	0.04556	-4.279	0.27881	T	.	.	0.106	0.19518	B	.;.;.;.;.	.;.;.;.;.	1.776088	0.22581	15.68	0.98901470143024783	0.48199	0.04713	0.10405	N	AEFDBI	0.059161	0.11153	N	-1.26468757244082	0.04109	0.1848191	-1.24532862616526	0.05200	0.2472159	0.609200251937581	0.21790	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	4.15	2.14	0.26518	1.086000	0.30464	0.085000	0.14440	-0.174000	0.10959	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	0.1426:0.7662:0.0:0.0912	9.315	0.37090	976	0.04745	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.000000	0.000000	0.011696	0.000000	0.000000	0.000000	0.003788	0.07143	495.83	33	chr7	158138399	.	C	T	495.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.561;DP=240;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.12;ReadPosRankSum=2.19;SOR=0.622	GT:AD:DP:GQ:PL	0/1:25,24:49:99:506,0,539	6	0	1	0
chr8	3151498	3151498	G	A	exonic	CSMD1	.	nonsynonymous SNV	CSMD1:NM_033225:exon40:c.C5930T:p.T1977M	.	424	1069	27	2	0	31	0.0142923	.	.	.	723056	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.032	.	0.0005	0.00239617	0.0027	0.0004	0.0011	0	0	0.0015	0.0026	0.0129	0.0019987	309	154602	rs201704028	0.0015	0.0015	0.0011	0.0018	0.0122	0.0014	0.0014	0.0116	0.0113	8.971e-05	0.0009	0.0031	2.52e-05	9.368e-05	0.0076	0.0007	0.0019	0.0122	0.0009	0.0009	0.0008	0.0009	0.0095	0.0008	0.0007	0.0073	0.0066	0.0002	0.0066	0.0008	0.0014	0	9.416e-05	0.0034	0.0007	0.0019	0.0095	0.029	0.45756	D	0.007	0.69154	D	0.331	0.33259	B	0.064	0.27215	B	0.002691	0.36102	N	0.234431	0.958481	0.38077	D	.	.	.	1.86	0.24285	T	-2.43	0.53258	N	0.349	0.39052	-1.0753	0.08287	T	0.060	0.25237	T	10	0.016356498	0.00344	T	.	.	.	0.032	0.07718	.	.	0.254244900254	0.25046	0.39313360522680163	0.39228	.	.	0.468585014343	0.34485	T	0.013381	0.11587	T	-0.51839	0.00450	T	-0.50702	0.21621	T	0.0260312283454855	0.01411	T	0.441056	0.12198	T	0.031643927	0.03042	0.08096344	0.18359	0.0377166	0.04887	0.06814266	0.14193	-7.207	0.55532	T	.	.	0.075	0.05317	B	.;.;.;.;.;.	.;.;.;.;.;.	3.526333	0.49451	22.8	0.9643385395450873	0.29803	0.80811	0.40355	D	AEFBI	0.153799	0.27872	N	-0.360636415741939	0.26883	1.470674	-0.354978153094556	0.26356	1.455214	0.201823811001923	0.18133	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.89	4.02	0.45968	2.078000	0.41191	6.364000	0.55513	0.676000	0.76740	0.837000	0.30238	0.997000	0.33255	0.063000	0.16184	0.0781:0.0:0.9219:0.0	12.932	0.57689	946	0.12043	CUB domain|CUB domain|CUB domain|CUB domain;CUB domain|CUB domain|CUB domain|CUB domain;CUB domain|CUB domain|CUB domain|CUB domain;CUB domain|CUB domain|CUB domain|CUB domain;CUB domain|CUB domain|CUB domain|CUB domain;CUB domain|CUB domain|CUB domain|CUB domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005035	0.000000	0.002717	0.002924	0.000000	0.017241	0.003049	0.007576	0.08333	348.27	33	chr8	3151498	.	G	A	348.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.757;DP=202;ExcessHet=0;FS=1.356;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.55;ReadPosRankSum=0.397;SOR=0.864	GT:AD:DP:GQ:PL	0/1:17,16:33:99:358,0,355	5	0	1	1
chr8	3399410	3399410	T	C	exonic	CSMD1	.	nonsynonymous SNV	CSMD1:NM_033225:exon16:c.A2386G:p.I796V	.	.	.	.	.	.	.	.	.	.	.	2249431	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.072	0.0044952946552	.	.	.	.	.	.	.	.	.	.	.	.	.	rs893386178	6.88e-06	6.84e-06	6.841e-06	6.92e-06	6.939e-05	3.48e-06	2.54e-06	1.84e-05	9.1e-06	0	6.939e-05	0	0	0	0	5.412e-06	0	1.193e-05	5.256e-05	5.253e-05	0	0.0001	0.0005	2.557e-05	1.83e-05	0.0002	0.0002	0	0	0.0005	0	0	0	0	1.47e-05	0	0	0.282	0.24661	T	0.2	0.27591	T	0.836	0.46303	P	0.955	0.69585	D	0.000029	0.55875	D	0.073236	0.882384	0.35778	D	.	.	.	2.32	0.16640	T	-0.75	0.21215	N	0.419	0.45898	-0.8845	0.49398	T	0.126	0.43153	T	10	0.21122977	0.37544	T	0.004495	0.11031	T	0.126	0.34673	0.654	0.79172	0.194818534648	0.19098	0.3793166443635583	0.37846	.	.	0.561158895493	0.47432	T	0.013	0.11182	T	-0.406503	0.02097	T	-0.585022	0.14099	T	0.17815141838594	0.19118	T	0.941906	0.78301	D	0.08807547	0.20533	0.09342885	0.22067	0.08807547	0.20533	0.09342885	0.22066	-5.65	0.43246	T	.	.	0.077	0.06341	B	.;.;.;.;.;.	.;.;.;.;.;.	2.850170	0.37631	20.5	0.76019176984142345	0.11301	0.87123	0.46569	D	AEFI	0.232728	0.35576	N	0.0162574853234352	0.42595	2.56941	0.0806363806667078	0.43575	2.656472	2.08796636596038E-4	0.05948	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.35	5.35	0.76297	3.153000	0.50383	2.303000	0.32029	0.609000	0.47794	0.999000	0.42656	0.999000	0.35428	0.946000	0.48989	0.0:0.0753:0.0:0.9247	10.064	0.41465	982	0.03397	CUB domain|CUB domain|CUB domain|CUB domain;CUB domain|CUB domain|CUB domain|CUB domain;CUB domain|CUB domain|CUB domain|CUB domain;CUB domain|CUB domain|CUB domain|CUB domain;CUB domain|CUB domain|CUB domain|CUB domain;CUB domain|CUB domain|CUB domain|CUB domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	201.83	34	chr8	3399410	.	T	C	201.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.11;DP=191;ExcessHet=0;FS=1.957;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.21;ReadPosRankSum=-1.177;SOR=1.324	GT:AD:DP:GQ:PL	0/1:9,9:18:99:212,0,183	6	0	1	0
chr8	10725756	10725756	G	C	exonic	SOX7	.	nonsynonymous SNV	SOX7:NM_031439:exon2:c.C1149G:p.N383K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.516	0.386800961027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.236	0.18434	T	0.252	0.23570	T	0.976	0.58310	D	0.95	0.68788	D	0.000000	0.84330	U	0.000000	0.999992	0.58761	D	2.72	0.79541	M	-1.08	0.77078	T	-1.76	0.41618	N	0.866	0.91047	-0.0521	0.81162	T	0.547	0.83374	D	10	0.84771323	0.83940	D	0.386801	0.93098	D	0.516	0.79340	0.49	0.57573	0.906895610935	0.90596	0.5225096371764829	0.52173	0.702741082225	0.61224	0.785796642303	0.79804	T	0.232189	0.59870	T	0.0608623	0.59721	T	-0.150352	0.59213	T	0.945200264453888	0.62213	D	.	.	.	0.17139532	0.37770	0.14537916	0.34480	0.17139532	0.37770	0.14537916	0.34479	-11.61	0.82899	D	.	.	0.913	0.83787	P	.;.	.;.	3.721689	0.53189	23.3	0.99477655030146328	0.66687	0.94420	0.61108	D	AEFDBCI	0.679038	0.64320	D	0.294045380356731	0.55847	3.748739	0.239579107340249	0.52060	3.383378	0.99999995228458	0.74766	0.730579	0.87903	0	0.59043	0.45803	0	0.576033	0.28219	0	0.648885	0.59868	0	.	.	4.74	2.91	0.32903	3.402000	0.52356	2.775000	0.34697	-0.118000	0.14412	1.000000	0.71638	1.000000	0.68203	0.957000	0.51019	0.2266:0.0:0.7734:0.0	10.267	0.42642	765	0.49814	Sox, C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1000.44	77	chr8	10725756	.	G	C	1000.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.072;DP=447;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.87;ReadPosRankSum=0.234;SOR=0.677	GT:AD:DP:GQ:PL	0/1:45,47:92:99:1011,0,1105	6	0	1	0
chr8	17239735	17239735	C	T	exonic	CNOT7	.	nonsynonymous SNV	CNOT7:NM_001322093:exon4:c.G368A:p.R123Q	.	938	579	4	1	0	6	0.00515464	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000998403	.	.	.	.	.	.	.	.	0.000461	12	26028	rs534380200	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0009	0.0009	0.0008	0.0009	0.0073	0.0008	0.0007	0.0054	0.0047	0.0002	0	0.0005	0.0046	0	0.0002	0.0034	0.0009	0.0014	0.0073	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	58.15	7	chr8	17239735	.	C	T	58.15	.	AC=1;AF=0.1;AN=10;BaseQRankSum=1.65;DP=127;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.63;ReadPosRankSum=-1.036;SOR=1.609	GT:AD:DP:GQ:PL	0/1:3,2:5:67:67,0,74	4	0	1	2
chr8	53881023	53881023	C	T	exonic	RGS20	.	nonsynonymous SNV	RGS20:NM_003702:exon1:c.C8T:p.T3M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.20033430497	.	0.000199681	6.441e-05	0.0009	0	0	0	0	0	0	5.17e-05	8	154602	rs574141651	5.687e-05	6.088e-05	6.483e-05	4.883e-05	0.0020	4.674e-05	4.295e-05	0.0016	0.0014	0.0020	6.862e-05	0	0	0	0	8.123e-06	8.379e-05	0	0.0006	0.0006	0.0006	0.0006	0.0021	0.0005	0.0005	0.0017	0.0016	0.0021	0	6.537e-05	0.0003	0	0	0	0	0.0005	0	0.007	0.59928	D	0.068	0.44106	T	0.389	0.34565	B	0.035	0.22741	B	.	.	.	.	1	0.81001	D	.	.	.	1.09	0.39223	T	-0.89	0.24026	N	0.406	0.44666	-1.0268	0.21494	T	0.062	0.25851	T	8	0.021300733	0.00507	T	0.200334	0.86703	D	0.016	0.02506	0.231	0.15855	0.391775403332	0.38787	.	.	.	.	.	.	.	.	.	.	-0.609141	0.00128	T	-0.652069	0.08810	T	0.0435861349105835	0.04344	T	0.544146	0.18565	T	.	.	.	.	.	.	.	.	-4.251	0.27484	T	.	.	0.366	0.57567	A	.	.	2.069432	0.26317	17.07	0.99656703335752705	0.77631	0.24204	0.22320	N	ALL	0.091188	0.18472	N	-0.540230972349553	0.20791	1.098663	-0.536978883774037	0.21151	1.142934	0.999999999979143	0.74766	0.443343	0.08805	1	0.484254	0.07192	0	0.666236	0.60216	0	0.249971	0.05119	0	.	.	3.61	1.8	0.24069	0.446000	0.21410	0.361000	0.17577	-0.326000	0.05813	0.150000	0.23655	0.034000	0.21380	0.252000	0.23314	0.0:0.5796:0.1979:0.2225	3.987	0.09010	840	0.37365	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	196.49	13	chr8	53881023	.	C	T	196.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.585;DP=166;ExcessHet=0;FS=1.74;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.93;ReadPosRankSum=0.69;SOR=0.561	GT:AD:DP:GQ:PL	0/1:11,11:22:99:207,0,234	6	0	1	0
chr8	67299229	67299229	C	T	exonic	ARFGEF1	.	nonsynonymous SNV	ARFGEF1:NM_006421:exon4:c.G439A:p.V147I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.244	0.00485664365008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.43708	D	0.144	0.33109	T	0.998	0.73220	D	0.995	0.83170	D	0.000000	0.84330	D	0.000000	0.999944	0.51968	D	1.42	0.35681	L	1.82	0.25018	T	-0.83	0.22727	N	0.47	0.50598	-1.0588	0.12058	T	0.129	0.43867	T	10	0.44255733	0.58194	T	0.004857	0.12192	T	0.244	0.55061	0.419	0.46036	0.344740032716	0.34089	0.46458263451071363	0.46377	0.432702769526	0.43444	0.796535730362	0.81436	T	0.173112	0.52185	T	-0.0537433	0.43877	T	-0.314975	0.43122	T	0.922568202018738	0.58277	D	0.989121	0.96387	D	0.31868398	0.54528	0.16852483	0.38818	0.31868398	0.54528	0.16852483	0.38817	-7.853	0.60064	D	.	.	0.089	0.12276	B	.	.	4.127652	0.61742	24.4	0.99858364901069363	0.93729	0.99671	0.98530	D	AEFBI	0.844558	0.76151	D	0.691477747293272	0.79072	7.001596	0.703445623715783	0.82640	7.817407	0.999999999999729	0.74766	0.732398	0.92422	0	0.708844	0.79440	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.15	5.15	0.70287	7.905000	0.86479	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	19.003	0.92819	440	0.80101	Mon2, dimerisation and cyclophilin-binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.125	33.59	7	chr8	67299229	.	C	T	33.59	.	AC=1;AF=0.125;AN=8;BaseQRankSum=0.199;DP=58;ExcessHet=0;FS=20.225;MLEAC=2;MLEAF=0.25;MQ=60;MQRankSum=0;QD=2.8;ReadPosRankSum=0.794;SOR=4.402	GT:AD:DP:GQ:PL	0/1:7,5:12:39:39,0,67	3	0	1	3
chr8	69624074	69624074	G	A	exonic	SULF1	.	nonsynonymous SNV	SULF1:NM_001128204:exon14:c.G1727A:p.R576H,SULF1:NM_001128206:exon14:c.G1727A:p.R576H,SULF1:NM_001128205:exon15:c.G1727A:p.R576H,SULF1:NM_015170:exon15:c.G1727A:p.R576H	.	421	1100	1	0	0	1	0.000454339	.	.	.	1443142	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.716	0.318913444216	.	.	0.0001	0.0003	0.0002	0	0	7.51e-05	0	0.0005	0.0001229	19	154602	rs758690728	0.0001	0.0001	0.0001	0.0001	0.0003	0.0001	0.0001	0.0002	0.0001	0.0001	8.946e-05	7.652e-05	5.038e-05	0	0.0002	0.0001	0.0001	0.0003	0.0001	0.0001	8.989e-05	0.0001	0.0006	6.51e-05	5.322e-05	0.0002	8.985e-05	7.237e-05	0	6.541e-05	0	0	0	0	0.0001	0	0.0006	0.017	0.51248	D	0.045	0.58613	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.74	0.80084	M	-5.38	0.99045	D	-2.13	0.48354	N	0.865	0.87049	1.098	0.99569	D	0.976	0.99257	D	10	0.68504936	0.71510	D	0.318913	0.91414	D	0.716	0.89922	.	.	0.817458200892	0.81573	0.5737155763041589	0.57300	0.437379854164	0.43799	0.637360453606	0.58189	T	0.362436	0.72835	T	0.163377	0.70513	D	0.307422	0.88538	D	0.13105184219805	0.15479	T	0.919908	0.71037	D	0.1678904	0.37213	0.20089164	0.44042	0.1678904	0.37212	0.20089164	0.44041	-4.927	0.36037	T	.	.	0.093	0.18539	B	.;.;.;.;.	.;.;.;.;.	5.123053	0.85695	28.7	0.99932825176876927	0.99439	0.96712	0.70537	D	AEFDBCIJ	0.914620	0.87825	D	0.94384541018095	0.93735	12.24156	0.917990272813166	0.96310	14.54296	0.999999999999982	0.74766	0.706548	0.73137	0	0.59043	0.45803	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.78	5.78	0.91418	9.597000	0.97445	10.028000	0.83159	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.938000	0.47775	0.0:0.0:1.0:0.0	20.012	0.97458	900	0.24599	Extracellular sulfatase, C-terminal;Extracellular sulfatase, C-terminal;Extracellular sulfatase, C-terminal;Extracellular sulfatase, C-terminal;Extracellular sulfatase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	559.46	36	chr8	69624074	.	G	A	559.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.369;DP=225;ExcessHet=0;FS=2.66;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.43;ReadPosRankSum=0.205;SOR=0.361	GT:AD:DP:GQ:PL	0/1:23,22:45:99:570,0,557	6	0	1	0
chr8	72937418	72937418	A	G	exonic	KCNB2	.	nonsynonymous SNV	KCNB2:NM_004770:exon3:c.A2063G:p.H688R	.	432	1024	60	5	1	71	0.03305	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	.	0.0018	0.00579073	0.0060	0.0002	0.0014	0.0001	0.0002	0.0024	0.0077	0.0324	0.0052134	806	154602	rs148879809	0.0034	0.0034	0.0025	0.0043	0.0305	0.0033	0.0033	0.0295	0.0291	0.0001	0.0014	0.0093	7.558e-05	0.0003	0.0201	0.0014	0.0048	0.0305	0.0024	0.0024	0.0019	0.0030	0.0305	0.0022	0.0022	0.0265	0.0250	0.0002	0	0.0020	0.0098	0.0002	9.438e-05	0.0068	0.0020	0.0047	0.0305	0.167	0.23095	T	0.393	0.15355	T	0.579	0.38789	P	0.288	0.40614	B	0.447423	0.12550	N	0.645143	0.999796	0.20333	N	0.755	0.19153	N	2.16	0.19166	T	0.17	0.05125	N	0.194	0.21319	-1.0423	0.16621	T	0.036	0.15640	T	10	0.0031713843	0.00053	T	.	.	.	0.031	0.07369	.	.	0.449242652821	0.44546	0.2769550992391696	0.27608	0.678472507498	0.59887	0.326055109501	0.14337	T	0.072245	0.34406	T	-0.586394	0.00176	T	-0.592094	0.13486	T	0.0182838058385119	0.00547	T	0.329367	0.06881	T	0.031181686	0.02911	0.04825675	0.07130	0.031181686	0.02911	0.04825675	0.07129	-3.165	0.12058	T	.	.	0.066	0.02145	B	.	.	0.497220	0.08661	5.435	0.83565526180723326	0.14796	0.44910	0.27422	N	AEFBI	0.231181	0.35445	N	-0.568358184222436	0.19911	1.045796	-0.633352496499007	0.18638	0.996561	0.027996616103475	0.13806	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.564101	0.26826	0	.	.	4.65	2.15	0.26590	1.870000	0.39166	1.146000	0.24443	0.691000	0.84096	0.046000	0.21249	0.025000	0.21018	0.780000	0.36908	0.7174:0.1446:0.0:0.138	7.771	0.28173	849	0.35778	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.015609	0.010101	0.012228	0.020468	0.000000	0.000000	0.018293	0.030303	0.07143	680.83	37	chr8	72937418	.	A	G	680.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.207;DP=237;ExcessHet=0;FS=4.987;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.81;ReadPosRankSum=-0.413;SOR=0.796	GT:AD:DP:GQ:PL	0/1:33,30:63:99:691,0,837	6	0	1	0
chr8	97930977	97930977	C	T	exonic	MATN2	.	nonsynonymous SNV	MATN2:NM_001317748:exon3:c.C167T:p.A56V,MATN2:NM_002380:exon3:c.C167T:p.A56V,MATN2:NM_030583:exon3:c.C167T:p.A56V	.	431	1005	81	5	0	91	0.0433127	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.228	.	0.0024	0.00379393	0.0051	0.0007	0.0047	0	0.0011	0.0045	0.0214	0.0167	0.0044113	682	154602	rs138635803	0.0033	0.0033	0.0028	0.0038	0.0368	0.0032	0.0032	0.0328	0.0312	0.0008	0.0049	0.0187	2.522e-05	0.0008	0.0368	0.0020	0.0056	0.0157	0.0028	0.0028	0.0025	0.0031	0.0126	0.0026	0.0025	0.0101	0.0092	0.0003	0	0.0052	0.0213	0.0002	9.418e-05	0.0340	0.0025	0.0080	0.0126	0.256	0.17126	T	0.477	0.12704	T	0.363	0.37483	B	0.311	0.41430	B	0.006445	0.32025	N	0.220361	0.859202	0.81001	D	0.695	0.17993	N	-1.14	0.77843	T	1.46	0.00775	N	0.165	0.27197	-0.7608	0.57362	T	0.161	0.49681	T	10	0.01770696	0.00380	T	.	.	.	0.228	0.52768	.	.	0.836741868336	0.83518	0.530535038014803	0.52977	0.192949307211	0.21626	0.479947000742	0.36049	T	0.015811	0.13192	T	-0.398691	0.02362	T	-0.333144	0.41118	T	0.0253921043202583	0.01324	T	0.845515	0.52437	T	0.065625004	0.14045	0.07151575	0.15323	0.065625004	0.14044	0.07151575	0.15323	-1.29	0.01734	T	.	.	0.13	0.28377	B	.;.;.;.	.;.;.;.	2.482416	0.32012	18.91	0.9952394340556775	0.69407	0.61361	0.31462	D	AEFDBI	0.115443	0.22698	N	0.102348143987851	0.46573	2.895542	0.257965852461295	0.53105	3.481049	0.999999994929606	0.74766	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.579976	0.35079	0	.	.	5.64	4.76	0.60189	4.001000	0.56758	3.327000	0.37595	0.545000	0.25583	1.000000	0.71638	0.998000	0.33993	0.996000	0.76049	0.0:0.729:0.0:0.271	5.367	0.15419	853	0.34956	.;von Willebrand factor, type A;.;von Willebrand factor, type A	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.025680	0.015152	0.021739	0.049708	0.000000	0.008621	0.033537	0.007576	0.2143	1889.05	28	chr8	97930977	.	C	T	1889.05	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-1.632;DP=239;ExcessHet=1.1394;FS=0;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=13.99;ReadPosRankSum=-0.85;SOR=0.688	GT:AD:DP:GQ:PL	0/1:10,17:27:99:452,0,263	4	0	3	0
chr8	98021213	98021213	G	A	exonic	MATN2	.	nonsynonymous SNV	MATN2:NM_001317748:exon12:c.G1705A:p.V569I,MATN2:NM_002380:exon13:c.G1828A:p.V610I,MATN2:NM_030583:exon13:c.G1828A:p.V610I	.	433	1047	41	1	0	43	0.0201217	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	.	0.0083	0.00479233	0.0098	0.0012	0.0027	0.0001	0.0071	0.0121	0.0078	0.0168	0.0093336	1443	154602	rs61729731	0.0094	0.0094	0.0089	0.0099	0.0187	0.0093	0.0092	0.0180	0.0176	0.0016	0.0022	0.0129	0.0002	0.0081	0.0161	0.0095	0.0084	0.0187	0.0075	0.0075	0.0075	0.0074	0.0162	0.0071	0.0070	0.0133	0.0122	0.0012	0.0318	0.0024	0.0153	0.0012	0.0069	0.0068	0.0117	0.0066	0.0162	0.093	0.31532	T	0.1	0.48855	T	0.001	0.07471	B	0.003	0.08700	B	0.304241	0.14544	N	0.631691	0.519229	0.31883	D	0.205	0.09354	N	1.57	0.97317	T	-0.13	0.08971	N	0.082	0.10056	0.039	0.83023	D	0.686	0.89169	D	10	0.008711696	0.00197	T	.	.	.	0.061	0.17616	.	.	0.839547833385	0.83801	0.48597135079498666	0.48517	0.156403761486	0.17651	0.253704488277	0.04168	T	0.070677	0.34018	T	-0.301915	0.08479	T	-0.19152	0.55448	T	0.0017796205268481	0.00018	T	0.80472	0.47619	T	0.043093473	0.06656	0.066421196	0.13602	0.043093473	0.06656	0.066421196	0.13602	-3.801	0.28720	T	.	.	0.068	0.02797	B	.;.;.;.;.	.;.;.;.;.	0.994950	0.13731	10.27	0.97130447718080226	0.32495	0.32416	0.24580	N	AEFDGBI	0.396125	0.47272	N	-0.714072352227259	0.15626	0.7891043	-0.620722908807034	0.18961	1.015249	0.999960451823212	0.48965	0.706298	0.61202	0	0.491513	0.07743	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.7	1.44	0.21647	-0.450000	0.06877	-0.053000	0.12521	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.964000	0.52637	0.3342:0.0:0.6658:0.0	8.639	0.33130	818	0.41518	.;EGF-like calcium-binding domain|EGF-like domain;.;.;EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005035	0.000000	0.004076	0.005848	0.000000	0.017241	0.006098	0.011364	0.07143	694.83	42	chr8	98021213	.	G	A	694.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.415;DP=247;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.98;ReadPosRankSum=2.88;SOR=0.804	GT:AD:DP:GQ:PL	0/1:28,30:58:99:705,0,617	6	0	1	0
chr8	99962750	99962750	T	C	exonic	RGS22	.	nonsynonymous SNV	RGS22:NM_001286693:exon24:c.A3184G:p.N1062D,RGS22:NM_001286692:exon26:c.A3691G:p.N1231D,RGS22:NM_015668:exon26:c.A3727G:p.N1243D	.	441	1075	6	0	0	6	0.00278293	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.0136603864234	.	.	0.0002	0	8.693e-05	0	0	3.007e-05	0	0.0016	0.000194	30	154602	rs12546559	0.0001	0.0001	6.136e-05	0.0001	0.0014	8.998e-05	8.481e-05	0.0012	0.0011	0	0	0	0	0	0.0007	2.16e-05	9.955e-05	0.0014	3.944e-05	3.94e-05	5.141e-05	2.691e-05	0.0006	1.716e-05	1.13e-05	0.0002	8.996e-05	0	0	0	0	0	0	0	4.411e-05	0	0.0006	0.328	0.13219	T	0.533	0.12107	T	0.281	0.34918	B	0.11	0.37837	B	0.012013	0.29322	N	0.220011	1	0.08975	N	2.075	0.57047	M	1.46	0.32238	T	-0.36	0.16393	N	0.154	0.24385	-1.0453	0.15738	T	0.066	0.27225	T	10	0.01876694	0.00411	T	0.01366	0.33231	T	0.042	0.11227	.	.	0.525664996154	0.52213	0.16901058394887333	0.16821	0.127101656324	0.14323	0.385580599308	0.23045	T	0.002015	0.08662	T	-0.606184	0.00134	T	-0.693959	0.06162	T	0.029836356761753	0.01964	T	0.634137	0.24845	T	0.053219397	0.10038	0.06794445	0.14126	0.053219397	0.10038	0.06794445	0.14125	-2.934	0.09487	T	.	.	0.107	0.19879	B	.;.;.;.	.;.;.;.	1.524339	0.19565	14.33	0.97416287866221252	0.33850	0.61416	0.31478	D	AEFI	0.104255	0.20864	N	-0.404868317287991	0.25297	1.372252	-0.378263070191243	0.25646	1.411658	1.73111461959908E-4	0.05786	0.549168	0.22868	0	0.573888	0.26702	0	0.573888	0.23631	0	0.616125	0.45549	0	.	.	4.87	2.2	0.26966	0.460000	0.21635	1.272000	0.25297	0.609000	0.47794	0.886000	0.31111	0.722000	0.26360	0.305000	0.24618	0.0:0.0:0.3492:0.6508	9.160	0.36176	0	0.99858	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.07143	118.83	19	chr8	99962750	.	T	C	118.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.4;DP=178;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=5.94;ReadPosRankSum=0.834;SOR=0.527	GT:AD:DP:GQ:PL	0/1:13,7:20:99:129,0,370	6	0	1	0
chr8	100137646	100137646	A	T	exonic	FBXO43	.	nonsynonymous SNV	FBXO43:NM_001029860:exon3:c.T1593A:p.N531K	.	657	859	1	5	0	11	0.00636206	.	.	.	2391372	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.065	0.0149192362661	.	.	0.0002	0	8.669e-05	0	0	9.033e-05	0	0.0008	0.0001358	21	154602	rs759048586	0.0001	0.0001	7.357e-05	0.0001	0.0011	9.476e-05	8.957e-05	0.0009	0.0008	2.991e-05	0	0	0	0	0.0009	4.409e-05	0.0002	0.0011	4.599e-05	4.597e-05	6.423e-05	2.69e-05	0.0006	2.109e-05	1.527e-05	0.0002	9e-05	0	0	0	0	0	0	0	5.88e-05	0	0.0006	0.037	0.43085	D	0.087	0.40747	T	0.792	0.44688	P	0.255	0.39216	B	0.026485	0.25911	N	0.464068	0.841823	0.35079	D	2.56	0.74772	M	0.63	0.53088	T	-2.47	0.53898	N	0.46	0.49692	-0.9293	0.44241	T	0.101	0.37417	T	10	0.10672566	0.19791	T	0.014919	0.35345	T	0.065	0.18881	0.389	0.41115	0.730967182232	0.72857	0.2843514943073435	0.28348	0.253366326615	0.27906	0.547137498856	0.45453	T	0.035125	0.23597	T	-0.437361	0.01340	T	-0.464395	0.26123	T	0.11268768920768	0.13701	T	0.687931	0.29705	T	0.11646189	0.27469	0.14810294	0.35022	0.11646189	0.27469	0.14810294	0.35021	-7.43	0.57116	T	.	.	0.530	0.65907	A	.	.	3.249242	0.44386	21.9	0.99768485723516431	0.85666	0.74910	0.36657	D	AEFDBI	0.272461	0.38809	N	-0.026882365640812	0.40641	2.416987	-0.0119717329308746	0.39174	2.318677	0.929346123174777	0.26965	0.615465	0.37627	0	0.633656	0.55848	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	5.76	0.747	0.17520	0.660000	0.24691	3.190000	0.36699	0.756000	0.94297	0.998000	0.41325	1.000000	0.68203	0.998000	0.85391	0.554:0.0:0.446:0.0	10.622	0.44675	0	0.99858	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	543.53	35	chr8	100137646	.	A	T	543.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.144;DP=224;ExcessHet=0;FS=1.098;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.66;ReadPosRankSum=-0.085;SOR=0.99	GT:AD:DP:GQ:PL	0/1:27,24:51:99:554,0,619	6	0	1	0
chr8	123130284	123130284	A	T	exonic	TBC1D31	.	nonsynonymous SNV	TBC1D31:NM_001363156:exon14:c.A857T:p.D286V,TBC1D31:NM_001330606:exon15:c.A2042T:p.D681V,TBC1D31:NM_001363152:exon15:c.A2042T:p.D681V,TBC1D31:NM_001363153:exon15:c.A2120T:p.D707V,TBC1D31:NM_001363154:exon15:c.A2042T:p.D681V,TBC1D31:NM_001363155:exon15:c.A2042T:p.D681V,TBC1D31:NM_001145088:exon16:c.A2357T:p.D786V,TBC1D31:NM_001363148:exon16:c.A2357T:p.D786V,TBC1D31:NM_001363149:exon16:c.A2327T:p.D776V,TBC1D31:NM_001363150:exon16:c.A2357T:p.D786V,TBC1D31:NM_001363151:exon16:c.A2357T:p.D786V,TBC1D31:NM_145647:exon16:c.A2357T:p.D786V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.399	0.0914902257934	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.845e-07	6.841e-07	1.362e-06	0	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.72154	T	0.219	0.33442	T	0.251	0.44599	B	0.051	0.40037	B	0.000291	0.46274	D	0.213241	1	0.81001	D	2.35	0.67516	M	-1.99	0.85320	D	-3.58	0.69118	D	0.598	0.72120	-0.3543	0.73429	T	0.399	0.75102	T	10	0.42114326	0.56872	T	0.09149	0.75716	D	0.399	0.71321	0.336	0.32491	0.734682175585	0.73231	0.5283691159433793	0.52760	0.112277597435	0.12667	0.47527474165	0.35407	T	0.06259	0.34162	T	0.143413	0.68648	D	-0.0317738	0.68250	D	0.887589931488037	0.53809	D	0.949405	0.80515	D	0.23559837	0.46398	0.21258712	0.45734	0.23559837	0.46398	0.21258712	0.45733	-7.067	0.54522	T	.	.	0.184	0.39881	B	.;.;.;.;.	.;.;.;.;.	3.430151	0.47670	22.5	0.9763021330646825	0.35017	0.98094	0.79547	D	AEFDGBHIJ	0.632860	0.61331	D	0.0305503559511904	0.43249	2.621517	0.139328232364394	0.46580	2.90164	0.999999959757085	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.683762	0.67416	0	.	.	5.63	3.23	0.36150	6.642000	0.74183	4.532000	0.43729	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.937000	0.47636	0.7912:0.138:0.0708:0.0	7.977	0.29326	960	0.08626	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	553.46	38	chr8	123130284	.	A	T	553.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.53;DP=242;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.03;ReadPosRankSum=1.55;SOR=0.693	GT:AD:DP:GQ:PL	0/1:20,26:46:99:564,0,387	6	0	1	0
chr8	124518865	124518865	C	T	exonic	TATDN1	.	nonsynonymous SNV	TATDN1:NM_001146160:exon2:c.G14A:p.G5E,TATDN1:NM_001317889:exon4:c.G155A:p.G52E,TATDN1:NM_032026:exon4:c.G155A:p.G52E	.	508	1004	8	2	0	12	0.00594059	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.795	0.0685235195618	0.0018	0.000399361	0.0019	0.0002	0.0010	0	0.0003	0.0020	0.0011	0.0043	0.0017594	272	154602	rs149193849	0.0019	0.0019	0.0018	0.0020	0.0052	0.0018	0.0018	0.0038	0.0036	0.0001	0.0016	0.0020	0	0.0006	0.0052	0.0019	0.0019	0.0041	0.0017	0.0017	0.0018	0.0017	0.0029	0.0016	0.0015	0.0018	0.0017	0.0003	0.0548	0.0021	0.0014	0	0.0008	0	0.0021	0.0009	0.0029	0.011	0.78490	D	0.016	0.76473	D	1.0	0.90584	D	0.989	0.88582	D	0.000001	0.84330	D	0.053757	1	0.81001	D	3.2	0.89116	M	.	.	.	-6.88	0.95074	D	0.904	0.90476	0.428	0.89507	D	0.610	0.86195	D	9	0.054737598	0.05876	T	0.068524	0.70474	D	0.795	0.93266	.	.	0.462549850287	0.45878	0.9105556852021944	0.91029	0.0807488137742	0.09089	0.6107172966	0.54417	T	0.195552	0.55166	T	0.152488	0.69500	D	0.446117	0.93479	D	0.114162886416989	0.13850	T	0.981335	0.93623	D	0.9655988	0.97837	0.93067384	0.97141	0.9655988	0.97838	0.93067384	0.97141	-11.908	0.84399	D	.	.	0.918	0.88761	P	.;.;.;.;.	.;.;.;.;.	5.094519	0.85087	28.5	0.99051777367999327	0.51275	0.97822	0.77388	D	AEFGBI	0.866002	0.78529	D	0.628507714490646	0.74986	6.226619	0.641573244846014	0.77986	6.785937	0.999999999999354	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.65145	0.50148	0	0.727631	0.95156	0	.	.	5.44	5.44	0.79348	5.973000	0.70153	5.903000	0.50914	0.589000	0.31548	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	19.25	0.93908	829	0.39537	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004032	0.000000	0.002717	0.000000	0.000000	0.008621	0.018293	0.003788	0.08333	251.3	6	chr8	124518865	.	C	T	251.3	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.152;DP=116;ExcessHet=0;FS=1.82;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.23;ReadPosRankSum=-0.372;SOR=1.27	GT:AD:DP:GQ:PL	0/1:8,11:19:99:261,0,173	5	0	1	1
chr8	132010871	132010871	G	C	exonic	EFR3A	.	nonsynonymous SNV	EFR3A:NM_001323553:exon23:c.G2334C:p.K778N,EFR3A:NM_001323554:exon23:c.G2334C:p.K778N,EFR3A:NM_001323555:exon23:c.G2334C:p.K778N,EFR3A:NM_001323556:exon23:c.G2334C:p.K778N,EFR3A:NM_001323557:exon23:c.G2334C:p.K778N,EFR3A:NM_015137:exon23:c.G2442C:p.K814N,EFR3A:NM_001323558:exon24:c.G2493C:p.K831N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.153	0.0112115321271	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.439	0.09291	T	0.331	0.18505	T	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.045609	1	0.81001	D	1.5	0.37844	L	1.39	0.33842	T	-1.42	0.34992	N	0.644	0.66187	-1.0316	0.19937	T	0.165	0.50323	T	10	0.3977828	0.55351	T	0.011212	0.28600	T	0.153	0.40148	0.323	0.30387	0.671013503938	0.66823	0.5213184564664413	0.52054	0.403179438654	0.41262	0.826878428459	0.86083	D	0.01412	0.19191	T	-0.0782944	0.39993	T	-0.350241	0.39179	T	0.901563823223114	0.55432	D	0.946205	0.79443	D	0.38296613	0.59530	0.24603723	0.50104	0.38296613	0.59531	0.24603723	0.50103	-8.505	0.64462	D	.	.	0.885	0.86088	P	.;.;.	.;.;.	4.272375	0.65018	24.8	0.9978335014773505	0.86955	0.98829	0.87402	D	AEFGBI	0.883251	0.81200	D	0.678002983385951	0.78189	6.822127	0.731837545398783	0.84796	8.392965	0.999999999974235	0.74766	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.727631	0.95156	0	.	.	6.02	6.02	0.97559	7.394000	0.79135	4.508000	0.43636	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.525	0.95196	871	0.31377	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2143	268.18	101	chr8	132010871	.	G	C	268.18	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-2.886;DP=842;ExcessHet=1.1394;FS=195.575;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=0.71;ReadPosRankSum=1.3;SOR=10.462	GT:AD:DP:GQ:PL	0/1:46,16:77:51:51,0,723	4	0	3	0
chr8	133465975	133465975	C	T	exonic	ST3GAL1	.	nonsynonymous SNV	ST3GAL1:NM_003033:exon5:c.G422A:p.R141H,ST3GAL1:NM_173344:exon6:c.G422A:p.R141H	.	425	1095	2	0	0	2	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.179	0.027800422639	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1414054049	1.026e-05	1.026e-05	6.806e-06	1.375e-05	0.0007	6.16e-06	4.89e-06	0.0002	0.0001	0	2.236e-05	0	0	0	0.0007	3.597e-06	3.311e-05	4.637e-05	1.97e-05	1.969e-05	2.57e-05	1.344e-05	6.537e-05	5.24e-06	2.45e-06	.	.	2.406e-05	0	6.537e-05	0	0	0	0	1.47e-05	0	0	0.022	0.51853	D	0.04	0.50809	D	0.068	0.23728	B	0.065	0.27321	B	0.000007	0.62929	D	0.090729	0.982483	0.39898	D	2.425	0.70256	M	1.28	0.35960	T	-2.75	0.62343	D	0.567	0.59138	-0.8952	0.48465	T	0.128	0.43503	T	10	0.583225	0.65966	D	0.028	0.50565	D	0.179	0.44899	0.756	0.88567	0.143184338766	0.13958	0.7880087230139021	0.78752	.	.	0.562031030655	0.47555	T	0.327831	0.69830	T	-0.190309	0.22213	T	-0.329614	0.41512	T	0.886609137058258	0.53703	D	0.746025	0.47476	T	0.17180286	0.37834	0.1033823	0.24805	0.17180286	0.37834	0.1033823	0.24804	-9.391	0.70179	D	.	.	0.089	0.30344	B	.;.;.;.;.;.	.;.;.;.;.;.	4.290501	0.65424	24.8	0.99779547517792577	0.86606	0.95621	0.65456	D	AEFDBI	0.621305	0.60604	D	0.0552855388800232	0.44385	2.713607	0.136654394565371	0.46440	2.88984	0.999999470339411	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	4.7	4.7	0.58776	2.711000	0.46845	7.506000	0.59554	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.193000	0.21690	0.0:0.8363:0.1637:0.0	12.854	0.57263	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1336.53	33	chr8	133465975	.	C	T	1336.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.455;DP=266;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.19;ReadPosRankSum=0.043;SOR=0.665	GT:AD:DP:GQ:PL	0/1:32,56:88:99:1347,0,629	6	0	1	0
chr8	140890698	140890698	G	T	exonic	PTK2	.	nonsynonymous SNV	PTK2:NM_001352694:exon2:c.C40A:p.P14T,PTK2:NM_001352700:exon2:c.C40A:p.P14T,PTK2:NM_001352706:exon2:c.C40A:p.P14T,PTK2:NM_001352711:exon2:c.C40A:p.P14T,PTK2:NM_001352713:exon2:c.C40A:p.P14T,PTK2:NM_001352715:exon2:c.C40A:p.P14T,PTK2:NM_001352720:exon2:c.C40A:p.P14T,PTK2:NM_001352721:exon2:c.C40A:p.P14T,PTK2:NM_001352727:exon2:c.C40A:p.P14T,PTK2:NM_001352728:exon2:c.C40A:p.P14T,PTK2:NM_001352729:exon2:c.C40A:p.P14T,PTK2:NM_001352748:exon2:c.C40A:p.P14T,PTK2:NM_001199649:exon3:c.C40A:p.P14T,PTK2:NM_001352695:exon3:c.C40A:p.P14T,PTK2:NM_001352698:exon3:c.C79A:p.P27T,PTK2:NM_001352699:exon3:c.C40A:p.P14T,PTK2:NM_001352701:exon3:c.C40A:p.P14T,PTK2:NM_001352702:exon3:c.C40A:p.P14T,PTK2:NM_001352703:exon3:c.C40A:p.P14T,PTK2:NM_001352704:exon3:c.C40A:p.P14T,PTK2:NM_001352705:exon3:c.C79A:p.P27T,PTK2:NM_001352707:exon3:c.C40A:p.P14T,PTK2:NM_001352708:exon3:c.C40A:p.P14T,PTK2:NM_001352709:exon3:c.C40A:p.P14T,PTK2:NM_001352710:exon3:c.C40A:p.P14T,PTK2:NM_001352714:exon3:c.C40A:p.P14T,PTK2:NM_001352716:exon3:c.C40A:p.P14T,PTK2:NM_001352717:exon3:c.C40A:p.P14T,PTK2:NM_001352718:exon3:c.C40A:p.P14T,PTK2:NM_001352719:exon3:c.C40A:p.P14T,PTK2:NM_001352722:exon3:c.C40A:p.P14T,PTK2:NM_001352723:exon3:c.C40A:p.P14T,PTK2:NM_001352724:exon3:c.C40A:p.P14T,PTK2:NM_001352726:exon3:c.C40A:p.P14T,PTK2:NM_005607:exon3:c.C106A:p.P36T,PTK2:NM_153831:exon3:c.C40A:p.P14T,PTK2:NM_001352712:exon4:c.C40A:p.P14T,PTK2:NM_001352725:exon4:c.C40A:p.P14T,PTK2:NM_001352697:exon5:c.C172A:p.P58T	.	426	1095	1	0	0	1	0.000456413	.	.	.	2399205	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.155	0.0225321062591	.	.	2.473e-05	0	0.0003	0	0	0	0	0	1.94e-05	3	154602	rs191376716	1.573e-05	1.573e-05	1.633e-05	1.513e-05	0.0003	1.048e-05	8.75e-06	0.0002	0.0002	2.987e-05	0.0003	3.827e-05	0	0	0	1.799e-06	3.312e-05	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.465	0.59928	T	0.528	0.47581	T	0.0	0.02946	B	0.001	0.04355	B	0.000193	0.48115	D	0.217942	0.978802	0.25945	N	-0.345	0.03330	N	-1.01	0.76168	T	-0.9	0.87835	N	0.314	0.35727	-0.5030	0.68541	T	0.345	0.71027	T	10	0.10197449	0.18665	T	0.022532	0.45427	T	0.155	0.40530	0.195	0.10705	0.524456804389	0.52091	0.6239079535243011	0.62323	0.531955723299	0.50672	0.476436465979	0.35566	T	0.395249	0.75418	T	-0.258305	0.13099	T	-0.311254	0.43525	T	0.112177521077468	0.13648	T	0.933407	0.75281	D	0.10815785	0.25573	0.07696602	0.17100	0.10815785	0.25572	0.07696602	0.17100	-3.997	0.23923	T	.	.	0.065	0.07793	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	2.638477	0.34328	19.60	0.91072566059920224	0.20325	0.86645	0.45969	D	AEFGBI	0.382141	0.46414	N	0.104711119907492	0.46683	2.904894	0.210492411079388	0.50429	3.235017	0.999999745044847	0.74766	0.736574	0.97449	0	0.659464	0.62310	0	0.709663	0.75317	0	0.677812	0.66336	0	.	.	5.68	4.8	0.61157	3.987000	0.56655	6.354000	0.55496	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.0:0.1284:0.8716:0.0	16.829	0.85805	976	0.04745	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	859.45	33	chr8	140890698	.	G	T	859.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.619;DP=247;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.77;ReadPosRankSum=-1.919;SOR=0.687	GT:AD:DP:GQ:PL	0/1:34,39:73:99:870,0,847	6	0	1	0
chr8	141356978	141356978	C	T	exonic	GPR20	.	nonsynonymous SNV	GPR20:NM_005293:exon2:c.G946A:p.G316R	.	427	1092	3	0	0	3	0.00137174	.	.	.	3255386	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.008	0.00193519798637	7.7e-05	.	0.0003	0.0004	0.0020	0	0	7.636e-05	0	0	0.000207	32	154602	rs201855453	0.0001	0.0001	0.0001	9.082e-05	0.0012	9.812e-05	9.228e-05	0.0010	0.0009	0.0004	0.0012	7.655e-05	5.039e-05	0	0.0005	6.655e-05	0.0002	2.319e-05	0.0002	0.0002	0.0002	0.0003	0.0010	0.0002	0.0001	0.0007	0.0005	0.0003	0	0.0010	0.0003	0	9.409e-05	0	4.409e-05	0.0014	0	0.55	0.06585	T	0.47	0.12246	T	0.216	0.30161	B	0.011	0.15521	B	0.021650	0.26791	U	0.246937	1	0.08975	N	1.15	0.29295	L	1.31	0.35405	T	0.22	0.04694	N	0.116	0.10483	-1.0411	0.16981	T	0.040	0.17319	T	10	0.009430975	0.00213	T	0.001935	0.03430	T	0.008	0.00669	0.244	0.17830	0.295623431141	0.29171	0.17341513915368675	0.17261	0.336806597811	0.35678	0.297206282616	0.09985	T	0.003984	0.03393	T	-0.56666	0.00232	T	-0.627277	0.10622	T	0.00335081554435093	0.00035	T	0.441056	0.12198	T	0.039318297	0.05404	0.061582364	0.11916	0.039318297	0.05404	0.061582364	0.11916	-2.731	0.07567	T	.	.	0.065	0.01810	B	.	.	0.892830	0.12662	9.188	0.79368076225925144	0.12710	0.19961	0.20862	N	AEFGBHCI	0.239822	0.36172	N	-0.956605132912595	0.09544	0.4522118	-0.988153632675552	0.10050	0.5038084	0.975351355934984	0.29626	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	4.12	2.25	0.27340	1.164000	0.31420	1.289000	0.25400	0.597000	0.34315	0.001000	0.13787	0.010000	0.20010	0.003000	0.05239	0.0:0.5699:0.2021:0.228	3.940	0.08822	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.002717	0.005848	0.000000	0.000000	0.000000	0.000000	0.07143	1839.44	38	chr8	141356978	.	C	T	1839.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.842;DP=280;ExcessHet=0;FS=2.707;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=19.78;ReadPosRankSum=1.83;SOR=0.843	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:44,49:93:99:0|1:141356978_C_T:1850,0,1625:141356978	6	0	1	0
chr8	142785370	142785370	C	T	exonic	LY6D	.	nonsynonymous SNV	LY6D:NM_003695:exon3:c.G238A:p.G80S	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.327	0.318170263569	7.7e-05	0.000399361	0.0003	0	0.0003	0	0	0.0002	0	0.0015	0.0002652	41	154602	rs368223354	0.0001	0.0001	9.532e-05	0.0002	0.0013	0.0001	0.0001	0.0011	0.0011	0	0.0003	0	0	0	0.0003	5.935e-05	4.968e-05	0.0013	9.203e-05	9.189e-05	5.144e-05	0.0001	0.0015	5.53e-05	4.367e-05	0.0007	0.0005	0	0	6.538e-05	0	0	0	0	8.827e-05	0	0.0015	0.097	0.30943	T	0.084	0.41239	T	1.0	0.90584	D	0.999	0.92359	D	0.011933	0.29350	N	0.159960	0.999978	0.18612	N	1.87	0.49600	L	-0.38	0.69027	T	-2.0	0.46146	N	0.292	0.33030	-0.6478	0.62810	T	0.404	0.75409	T	10	0.028319359	0.00966	T	0.31817	0.91393	D	0.327	0.64926	.	.	0.719817184352	0.71735	0.6307132820222753	0.63005	0.623859276739	0.56610	0.320709913969	0.13529	T	0.015985	0.13301	T	-0.357717	0.04260	T	-0.327146	0.41787	T	0.0799042693116996	0.09974	T	0.625137	0.24143	T	0.05602841	0.10968	0.0838368	0.19242	0.05602841	0.10968	0.0838368	0.19242	-3.096	0.11250	T	.	.	0.396	0.59370	A	.	.	2.064452	0.26254	17.05	0.99754782373751827	0.84537	0.05403	0.11271	N	AEFGBHCI	0.092845	0.18792	N	-0.0577767215301188	0.39255	2.312013	-0.294919631078489	0.28266	1.574581	0.999997461984233	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	3.14	3.14	0.35196	-0.106000	0.10860	1.566000	0.27387	-0.193000	0.09282	0.001000	0.13787	0.798000	0.26924	0.013000	0.09966	0.0:1.0:0.0:0.0	10.030	0.41265	.	.	Ly-6 antigen/uPA receptor-like|Ly-6 antigen/uPA receptor-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.07143	766.53	34	chr8	142785370	.	C	T	766.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.516;DP=240;ExcessHet=0;FS=1.012;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.22;ReadPosRankSum=-0.305;SOR=0.701	GT:AD:DP:GQ:PL	0/1:26,32:58:99:777,0,572	6	0	1	0
chr8	143932918	143932918	G	A	exonic	PLEC	.	nonsynonymous SNV	PLEC:NM_201378:exon14:c.C1570T:p.R524C,PLEC:NM_201379:exon14:c.C1546T:p.R516C,PLEC:NM_201380:exon14:c.C2023T:p.R675C,PLEC:NM_201381:exon14:c.C1516T:p.R506C,PLEC:NM_201382:exon14:c.C1612T:p.R538C,PLEC:NM_201383:exon14:c.C1624T:p.R542C,PLEC:NM_201384:exon14:c.C1612T:p.R538C,PLEC:NM_000445:exon15:c.C1693T:p.R565C	Epidermolysis bullosa simplex with muscular dystrophy, Autosomal recessive;Epidermolysis bullosa simplex with pyloric atresia, Autosomal recessive;Epidermolysis bullosa simplex, Ogna type, Autosomal dominant;Muscular dystrophy, limb-girdle, type 2Q, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	992607	Epidermolysis_bullosa_simplex,_Ogna_type|Epidermolysis_bullosa_simplex_with_nail_dystrophy|Epidermolysis_bullosa_simplex_5C,_with_pyloric_atresia|Epidermolysis_bullosa_simplex_5B,_with_muscular_dystrophy|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2Q|not_provided	MONDO:MONDO:0007555,MedGen:C0432317,OMIM:131950,Orphanet:79401|MONDO:MONDO:0014661,MedGen:C4225309,OMIM:616487|MONDO:MONDO:0012807,MedGen:C2677349,OMIM:612138,Orphanet:158684|MONDO:MONDO:0009181,MedGen:C2931072,OMIM:226670,Orphanet:257|MONDO:MONDO:0013390,MedGen:C3150989,OMIM:613723,Orphanet:254361|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.656	0.705249474178	.	.	1.751e-05	0	0	0	0	3.173e-05	0	0	1.29e-05	2	154602	rs782678779	2.26e-05	2.257e-05	2.453e-05	2.065e-05	2.698e-05	1.612e-05	1.418e-05	1.914e-05	1.661e-05	0	0	0	2.52e-05	0	0	2.698e-05	0	2.319e-05	6.571e-06	6.566e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.001	0.78490	D	0.006	0.79402	D	1.0	0.90584	D	0.833	0.59784	P	0.000017	0.62929	U	0.000000	1	0.81001	D	2.77	0.80896	M	-3.17	0.93054	D	-5.02	0.87457	D	0.766	0.76388	0.791	0.94299	D	0.832	0.94366	D	10	0.7284888	0.74136	D	0.705249	0.97594	D	0.656	0.87085	0.463	0.53242	0.759304157599	0.75711	0.5267576845746209	0.52599	.	.	0.691615581512	0.65938	T	0.553189	0.84908	D	0.219416	0.75720	D	0.178029	0.81881	D	0.946784257888794	0.62543	D	0.993967	0.98010	D	0.35089588	0.57137	0.12939206	0.31112	0.35089588	0.57137	0.12939206	0.31111	-10.698	0.78962	D	0.6715747089641879	0.74660	0.235	0.51227	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	4.485987	0.70031	25.5	0.97880674439159032	0.36601	0.94035	0.59916	D	AEFGBCI	0.768935	0.70434	D	0.408810759487375	0.61904	4.398193	0.318834085021565	0.56646	3.82834	0.999999998499149	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	5.12	4.24	0.49486	5.449000	0.66364	.	.	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.658000	0.32913	0.0835:0.0:0.9165:0.0	12.387	0.54669	970	0.06235	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	592.46	52	chr8	143932918	.	G	A	592.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.01;DP=491;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.56;ReadPosRankSum=0.528;SOR=0.693	GT:AD:DP:GQ:PL	0/1:38,24:62:99:603,0,943	6	0	1	0
chr8	143991731	143991731	C	T	exonic	GRINA	.	nonsynonymous SNV	GRINA:NM_000837:exon3:c.C419T:p.S140F,GRINA:NM_001009184:exon3:c.C419T:p.S140F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.177	0.0288842405296	.	.	8.253e-06	0	0	0.0001	0	0	0	0	6.5e-06	1	154602	rs782525102	2.053e-06	2.736e-06	1.362e-06	2.751e-06	2.519e-05	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	2.519e-05	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.61437	D	0.1	0.38742	T	0.99	0.63424	D	0.804	0.58350	P	0.027756	0.25708	N	0.392618	0.994878	0.42452	D	2.33	0.66821	M	1.81	0.25509	T	-2.41	0.52938	N	0.651	0.66187	-1.0717	0.09043	T	0.088	0.34105	T	10	0.29323512	0.46899	T	0.028884	0.51492	D	0.177	0.44549	0.245	0.17984	0.043077524339	0.03247	0.8418700343198967	0.84147	0.030312355923	0.03129	0.704336345196	0.67771	T	0.354838	0.72193	T	-0.161902	0.26468	T	-0.301209	0.44598	T	0.775481700897217	0.44771	D	0.89491	0.64723	D	0.06660001	0.14346	0.12005448	0.28974	0.06660001	0.14346	0.12005448	0.28974	-7.312	0.56281	T	.	.	0.726	0.76737	P	.;.;.	.;.;.	5.066213	0.84472	28.3	0.99696346382072232	0.80316	0.97467	0.74937	D	AEFDGBCI	0.893412	0.83134	D	0.369889743334723	0.59798	4.16221	0.376490388871936	0.60118	4.196025	0.99999999772561	0.74766	0.706548	0.73137	0	0.672317	0.65289	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.23	4.35	0.51454	6.768000	0.74775	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.9046:0.0:0.0954	9.803	0.39940	970	0.06235	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	955.44	38	chr8	143991731	.	C	T	955.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.117;DP=272;ExcessHet=0;FS=0.872;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.41;ReadPosRankSum=1.53;SOR=0.847	GT:AD:DP:GQ:PL	0/1:38,39:77:99:966,0,923	6	0	1	0
chr8	144238795	144238795	G	A	exonic	MROH1	.	nonsynonymous SNV	MROH1:NM_001288814:exon14:c.G1378A:p.D460N,MROH1:NM_032450:exon15:c.G1378A:p.D460N	.	421	1069	32	0	0	32	0.0147465	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.0130622051755	.	.	.	.	.	.	.	.	.	.	.	.	.	rs919478621	0.0015	0.0016	0.0013	0.0017	0.0199	0.0014	0.0014	0.0160	0.0146	0.0006	0.0023	0.0017	2.773e-05	2.075e-05	0.0199	0.0010	0.0021	0.0043	0.0011	0.0011	0.0009	0.0013	0.0045	0.0009	0.0009	0.0037	0.0033	0.0003	0	0.0045	0.0003	0	9.411e-05	0.0068	0.0007	0.0033	0.0043	0.056	0.40319	T	0.11	0.37449	T	0.036	0.20732	B	0.004	0.10090	B	0.904292	0.08598	N	0.935823	0.565414	0.31222	N	1.705	0.44259	L	3.08	0.08460	T	-1.92	0.44657	N	0.198	0.21839	-1.0316	0.19937	T	0.018	0.07706	T	10	0.038000762	0.02189	T	0.013062	0.32163	T	0.066	0.19193	0.241	0.17371	0.043077524339	0.03247	0.2541313998507165	0.25327	0.211288233545	0.23638	0.625659644604	0.56529	T	0.017741	0.14423	T	-0.335318	0.05719	T	-0.719438	0.04823	T	0.20823460817337	0.20860	T	0.781822	0.41691	T	0.056680735	0.11184	0.071331814	0.15261	0.056680735	0.11184	0.071331814	0.15261	-9.708	0.72145	D	.	.	0.098	0.16886	B	.;.;.	.;.;.	2.684360	0.35026	19.79	0.98527730880921804	0.42545	0.73314	0.35864	D	AEFGI	0.111277	0.22036	N	-0.643073558727479	0.17662	0.9107683	-0.603233086864087	0.19410	1.041231	4.75162690537675E-4	0.07095	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.668105	0.65232	0	.	.	3.84	2.96	0.33383	2.623000	0.46101	5.238000	0.48053	0.604000	0.46097	0.192000	0.24212	1.000000	0.68203	0.018000	0.11154	0.1096:0.0:0.8904:0.0	9.514	0.38255	940	0.13648	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	587.44	33	chr8	144238795	.	G	A	587.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.825;DP=238;ExcessHet=0;FS=1.007;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.31;ReadPosRankSum=-2.523;SOR=0.518	GT:AD:DP:GQ:PL	0/1:29,28:57:99:598,0,645	6	0	1	0
chr8	144263361	144263361	G	A	exonic	BOP1	.	nonsynonymous SNV	BOP1:NM_015201:exon12:c.C1465T:p.R489W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	0.0262774453275	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1169068213	1.938e-05	2.257e-05	1.103e-05	2.781e-05	2.992e-05	1.344e-05	1.157e-05	1.175e-05	9.55e-06	2.992e-05	0	0	0	0.0001	0	1.799e-05	1.664e-05	2.323e-05	3.286e-05	3.283e-05	2.57e-05	4.036e-05	5.881e-05	1.261e-05	7.98e-06	1.972e-05	1.125e-05	2.413e-05	0	0	0	0	0	0	5.881e-05	0	0	0.034	0.44029	D	0.007	0.69154	D	.	.	.	.	.	.	0.003691	0.34611	N	0.226724	.	.	.	.	.	.	1.03	0.40469	T	-4.76	0.80340	D	0.267	0.30233	-0.7259	0.59169	T	0.146	0.46985	T	6	0.24793833	0.42083	T	0.154391	0.83550	D	.	.	.	.	0.384586903782	0.38071	0.5885686835714561	0.58786	.	.	0.859900355339	0.91096	D	0.204461	0.56324	T	-0.0876182	0.38468	T	-0.363634	0.37633	T	0.979296267032623	0.72758	D	.	.	.	0.17763956	0.38741	0.17460252	0.39867	0.17763956	0.38740	0.17460252	0.39866	-11.994	0.84822	D	.	.	0.109	0.20857	B	.	.	4.654834	0.74232	26.1	0.99850053989985499	0.92925	0.11362	0.16583	N	AEFI	0.376852	0.46084	N	-0.3973019321735	0.25565	1.388709	-0.502860905180385	0.22076	1.197254	7.94527590863197E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	3.33	-0.133	0.12827	0.399000	0.20641	2.312000	0.32082	0.656000	0.54149	0.001000	0.13787	0.997000	0.33255	0.427000	0.27384	0.0:0.0:0.306:0.694	10.102	0.41682	946	0.12043	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	323.83	37	chr8	144263361	.	G	A	323.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.253;DP=227;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.08;ReadPosRankSum=0.032;SOR=0.446	GT:AD:DP:GQ:PL	0/1:8,15:23:99:334,0,171	6	0	1	0
chr8	144473375	144473375	G	A	exonic	KIFC2	.	nonsynonymous SNV	KIFC2:NM_001369769:exon18:c.G2362A:p.G788S	.	419	1085	18	0	0	18	0.00822669	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	.	0.0053	0.00219649	0.0127	0.0017	0.0080	0	0.0122	0.0204	0	0.0053	0.0047477	734	154602	rs201074786	0.0088	0.0088	0.0090	0.0087	0.0102	0.0087	0.0087	0.0101	0.0100	0.0016	0.0048	0.0075	2.656e-05	0.0040	0.0045	0.0102	0.0079	0.0033	0.0063	0.0063	0.0065	0.0061	0.0100	0.0060	0.0058	0.0094	0.0092	0.0017	0.0099	0.0063	0.0066	0	0.0039	0.0238	0.0100	0.0071	0.0029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.922249	0.27265	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003955841	0.00076	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.427357	0.11519	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.08368	B	.	.	1.176218	0.15662	12.01	0.79034809031486375	0.12561	0.11736	0.16829	N	AEFDBCI	0.010002	0.00065	N	-0.567136055441639	0.19950	1.048079	-0.732243169405619	0.16160	0.8535348	0.999969881673535	0.48965	0.676563	0.55306	0	0.958517	0.99986	0	0.52208	0.10781	0	0.620976	0.48614	0	.	.	3.48	1.66	0.23081	0.369000	0.20149	1.955000	0.29907	0.618000	0.50648	0.035000	0.20724	0.988000	0.31051	0.039000	0.14166	0.2172:0.0:0.7828:0.0	7.859	0.28662	940	0.13648	.	BOP1	Brain_Hypothalamus	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003564	0.000000	0.005464	0.000000	0.000000	0.008772	0.003125	0.000000	0.07143	578.46	34	chr8	144473375	.	G	A	578.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.192;DP=234;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.71;ReadPosRankSum=0.389;SOR=0.693	GT:AD:DP:GQ:PL	0/1:27,27:54:99:589,0,584	6	0	1	0
chr8	144807638	144807638	C	G	exonic	ZNF517	.	nonsynonymous SNV	ZNF517:NM_001317936:exon5:c.C701G:p.A234G,ZNF517:NM_001384904:exon5:c.C722G:p.A241G,ZNF517:NM_213605:exon5:c.C722G:p.A241G,ZNF517:NM_001384905:exon6:c.C722G:p.A241G	.	429	1069	24	0	0	24	0.0111008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.00084795732836	0.0003	0.000399361	0.0017	0	0.0006	0.0002	0.0003	0.0005	0.0059	0.0085	0.0010996	170	154602	rs145328614	0.0008	0.0008	0.0005	0.0011	0.0087	0.0008	0.0008	0.0076	0.0074	8.975e-05	0.0002	0.0015	2.524e-05	5.889e-05	0.0087	0.0003	0.0010	0.0081	0.0005	0.0005	0.0004	0.0007	0.0075	0.0004	0.0004	0.0055	0.0049	2.406e-05	0	0.0001	0.0006	0	9.418e-05	0.0068	0.0005	0.0005	0.0075	0.093	0.31532	T	0.035	0.52389	D	0.026	0.19406	B	0.026	0.20792	B	.	.	.	.	1	0.81001	D	-0.44	0.02835	N	2.13	0.19588	T	-2.48	0.54059	N	0.083	0.08088	-1.0289	0.20811	T	0.034	0.14552	T	9	0.005225897	0.00114	T	8.48E-4	0.00734	T	0.033	0.08068	.	.	0.0954503805726	0.09146	0.02932518378202898	0.02881	0.278568782868	0.30341	0.395311534405	0.24415	T	0.020404	0.16069	T	-0.57809	0.00198	T	-0.598737	0.12917	T	0.0217084522860914	0.00877	T	0.320768	0.06490	T	0.15683421	0.35371	0.16436942	0.38081	0.15683421	0.35371	0.16436942	0.38080	-5.478	0.41662	T	.	.	0.138	0.30211	B	.;.	.;.	2.431960	0.31291	18.70	0.99483157296345304	0.67014	0.01006	0.03801	N	AEFDBI	0.030302	0.03023	N	-0.464442923937653	0.23253	1.247385	-0.44975781783289	0.23556	1.285203	0.887889848489239	0.25776	0.718356	0.82227	0	0.577304	0.33150	0	0.570548	0.19454	0	0.635551	0.53088	0	.	.	2.7	2.7	0.31007	-0.193000	0.09572	-1.722000	0.04847	0.596000	0.33519	0.000000	0.06391	0.000000	0.08366	0.884000	0.42379	0.0:0.5886:0.4114:0.0	8.639	0.33126	680	0.59965	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005056	0.005051	0.001359	0.008772	0.000000	0.008621	0.003125	0.011364	0.08333	1065.27	51	chr8	144807638	.	C	G	1065.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.224;DP=269;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.22;ReadPosRankSum=1.29;SOR=0.771	GT:AD:DP:GQ:PL	0/1:29,41:70:99:1075,0,723	5	0	1	1
chr8	144807888	144807888	G	T	exonic	ZNF517	.	nonsynonymous SNV	ZNF517:NM_001317936:exon5:c.G951T:p.Q317H,ZNF517:NM_001384904:exon5:c.G972T:p.Q324H,ZNF517:NM_213605:exon5:c.G972T:p.Q324H,ZNF517:NM_001384905:exon6:c.G972T:p.Q324H	.	419	1060	41	2	0	45	0.0207852	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	.	0.0004	0.000599042	0.0029	0	0.0028	0.0002	0	0.0015	0.0026	0.0170	0.0015653	242	154602	rs142358445	0.0012	0.0012	0.0008	0.0015	0.0106	0.0011	0.0011	0.0099	0.0097	9.43e-05	0.0013	0.0036	2.566e-05	4.283e-05	0.0106	0.0005	0.0018	0.0105	0.0008	0.0009	0.0007	0.0010	0.0099	0.0007	0.0007	0.0077	0.0069	0.0001	0	0.0016	0.0017	0	9.413e-05	0.0068	0.0005	0.0024	0.0099	0.002	0.72154	D	0.001	0.83351	D	0.977	0.58535	D	0.721	0.54900	P	.	.	.	.	1	0.08975	N	1.165	0.29723	L	0.68	0.51952	T	-2.4	0.52776	N	0.093	0.07949	-1.0384	0.17802	T	0.051	0.21650	T	9	0.004741341	0.00100	T	.	.	.	0.094	0.27141	0.582	0.70861	0.391000631824	0.38715	0.20662803744608674	0.20578	0.546712786564	0.51655	0.457841545343	0.33015	T	0.073538	0.34722	T	-0.487576	0.00670	T	-0.463751	0.26193	T	0.0529239228263996	0.06006	T	0.917708	0.70434	D	0.18125005	0.39286	0.16418901	0.38047	0.18125005	0.39286	0.16418901	0.38046	-5.988	0.46179	T	.	.	0.505	0.64821	A	.;.	.;.	1.969233	0.25016	16.61	0.99102405723314768	0.52496	0.10551	0.16026	N	AEFGBI	0.043680	0.06934	N	-0.588855039103326	0.19282	1.007933	-0.714412742383216	0.16602	0.8790396	0.31948129485906	0.19369	0.695654	0.57023	0	0.379588	0.06130	0	0.723109	0.80598	0	0.491896	0.07777	0	.	.	2.83	1.92	0.24912	0.966000	0.28929	1.373000	0.25972	0.670000	0.69193	0.032000	0.20554	0.038000	0.21505	0.122000	0.19250	0.2894:0.0:0.7106:0.0	4.035	0.09211	675	0.60470	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.010101	0.005155	0.006793	0.005848	0.000000	0.034483	0.012270	0.015152	0.07143	651.49	51	chr8	144807888	.	G	T	651.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.494;DP=254;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.77;ReadPosRankSum=-1.316;SOR=0.616	GT:AD:DP:GQ:PL	0/1:23,28:51:99:662,0,530	6	0	1	0
chr9	117371	117371	C	0	exonic	FOXD4	.	.	.	.	494	340	430	130	128	818	0.50365	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	941.36	11	chr9	117371	.	C	*	941.36	.	AC=3;AF=0.25;AN=12;DP=73;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=40.02;QD=25.44;SOR=1.121	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,2:2:6:1|1:117366_C_CCG:90,6,0:117366	4	1	1	1
chr9	2718128	2718128	C	T	exonic	KCNV2	.	nonsynonymous SNV	KCNV2:NM_133497:exon1:c.C389T:p.T130I	Retinal cone dystrophy 3B, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	901812	not_provided|Cone_dystrophy_with_supernormal_rod_response	MedGen:C3661900|MONDO:MONDO:0012475,MedGen:C1835897,OMIM:610356,Orphanet:209932	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.333	.	.	0.00219649	0.0012	0	0	0	0	0	0	0.0070	0.000718	111	154602	rs541196988	0.0004	0.0004	0.0002	0.0006	0.0066	0.0004	0.0004	0.0061	0.0060	2.994e-05	0	0	0	0	0	5.412e-06	0.0006	0.0066	0.0003	0.0003	0.0002	0.0005	0.0101	0.0003	0.0002	0.0079	0.0071	2.405e-05	0	0	0	0	0	0	0	0	0.0101	0.077	0.34095	T	0.184	0.29056	T	0.726	0.42471	P	0.548	0.49136	P	0.002395	0.36650	N	0.321094	0.880889	0.35748	D	2.35	0.67516	M	-1.08	0.77078	T	-3.37	0.66665	D	0.483	0.51761	-0.1502	0.78911	T	0.451	0.78515	T	10	0.010885537	0.00240	T	.	.	.	0.333	0.65522	0.345	0.33950	0.737052393128	0.73470	0.7889918371642377	0.78851	0.0344820302505	0.03621	0.290073364973	0.08934	T	0.683107	0.90715	D	-0.330519	0.06073	T	-0.244794	0.50328	T	0.16643672513056	0.18334	T	0.715328	0.32778	T	0.2765178	0.50713	0.39982307	0.64535	0.2765178	0.50712	0.39982307	0.64535	-7.853	0.60064	D	.	.	0.174	0.38172	B	.	.	2.904428	0.38503	20.8	0.99729875145327129	0.82690	0.95055	0.63274	D	AEFDBI	0.477837	0.52065	N	0.15176638691891	0.48896	3.096265	0.139397250672186	0.46583	2.90195	0.668984900781665	0.22354	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.07	3.23	0.36150	2.204000	0.42397	0.627000	0.20189	0.599000	0.40250	0.988000	0.36536	0.000000	0.08366	0.915000	0.45038	0.0:0.8491:0.0:0.1509	10.996	0.46795	900	0.24599	Potassium channel tetramerisation-type BTB domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.07143	585.44	38	chr9	2718128	.	C	T	585.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.044;DP=285;ExcessHet=0;FS=4.307;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.01;ReadPosRankSum=-0.69;SOR=0.287	GT:AD:DP:GQ:PL	0/1:19,26:45:99:596,0,471	6	0	1	0
chr9	17415849	17415849	A	G	exonic	CNTLN	.	nonsynonymous SNV	CNTLN:NM_001365029:exon17:c.A2855G:p.Q952R,CNTLN:NM_017738:exon17:c.A2858G:p.Q953R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.00331855763938	0.0037	0.000199681	0.0033	0.0006	0.0004	0.0001	0.0012	0.0054	0.0045	0.0012	0.0033311	515	154602	rs41268971	0.0045	0.0046	0.0046	0.0045	0.0055	0.0044	0.0044	0.0054	0.0054	0.0006	0.0006	0.0016	0.0001	0.0015	0	0.0055	0.0033	0.0011	0.0027	0.0027	0.0031	0.0023	0.0051	0.0025	0.0024	0.0047	0.0045	0.0009	0	0.0007	0.0023	0	0.0009	0	0.0051	0.0014	0.0004	0.049	0.39820	D	0.33	0.18560	T	0.557	0.38282	P	0.224	0.37970	B	.	.	.	.	0.999972	0.18612	N	2.24	0.63355	M	2.26	0.17596	T	-0.31	0.12099	N	0.196	0.21580	-1.0736	0.08639	T	0.049	0.20829	T	9	0.006874472	0.00156	T	0.003319	0.07390	T	0.040	0.10527	.	.	0.0401082797425	0.02173	0.07315621065529385	0.07252	.	.	0.340176820755	0.16465	T	.	.	.	-0.568721	0.00225	T	-0.578674	0.14663	T	0.0296378005295992	0.01933	T	0.608739	0.23025	T	.	.	.	.	.	.	.	.	-3.526	0.16798	T	.	.	0.085	0.10014	B	.	.	1.836113	0.23329	15.97	0.98034917253859333	0.37743	0.09860	0.15519	N	AEFI	0.090371	0.18312	N	-0.329407936429418	0.28035	1.543073	-0.367065973227395	0.25986	1.433	0.176133071420884	0.17806	0.638212	0.43195	0	0.573888	0.26702	0	0.658983	0.55881	0	0.668105	0.65232	0	.	.	4.36	3.12	0.34986	0.502000	0.22302	4.094000	0.41823	0.756000	0.94297	0.014000	0.18986	0.937000	0.28687	0.066000	0.16387	0.823:0.0:0.0:0.177	8.279	0.31052	676	0.60355	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	326.27	28	chr9	17415849	.	A	G	326.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.259;DP=193;ExcessHet=0;FS=1.449;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.25;ReadPosRankSum=0.154;SOR=1.061	GT:AD:DP:GQ:PL	0/1:13,16:29:99:336,0,314	5	0	1	1
chr9	18777098	18777098	G	T	exonic	ADAMTSL1	.	nonsynonymous SNV	ADAMTSL1:NM_001040272:exon19:c.G2869T:p.V957L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.120	0.0421184724726	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.368e-06	0	2.752e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.47745	D	0.012	0.63918	D	0.199	0.29618	B	0.048	0.24975	B	0.197020	0.16698	N	0.621811	0.662909	0.33069	D	1.66	0.42513	L	-0.05	0.63403	T	-1.58	0.38151	N	0.411	0.45142	-0.8257	0.53575	T	0.190	0.54168	T	10	0.26787627	0.44302	T	0.042118	0.60293	D	0.120	0.33359	0.43	0.47843	0.596401026678	0.59319	0.4735615555463075	0.47275	0.0950914355222	0.10736	0.561191082001	0.47435	T	0.096903	0.39919	T	-0.0263476	0.47944	T	-0.275623	0.47250	T	0.499251295027995	0.32602	T	0.89781	0.64256	D	0.0944867	0.22216	0.10768103	0.25927	0.0944867	0.22216	0.10768103	0.25927	-5.36	0.40533	T	.	.	0.180	0.39134	B	.	.	3.487674	0.48738	22.7	0.991829740736618	0.54730	0.96699	0.70468	D	AEFBI	0.606567	0.59686	D	-0.0132901928208036	0.41253	2.464275	0.10702691612847	0.44906	2.763485	0.999985654949842	0.51787	0.706548	0.73137	0	0.573888	0.26702	0	0.573888	0.23631	0	0.714379	0.83352	0	.	.	5.53	5.53	0.82530	3.571000	0.53586	11.857000	0.98226	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.139000	0.19909	0.1449:0.0:0.8551:0.0	10.911	0.46316	884	0.28482	Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	300.53	35	chr9	18777098	.	G	T	300.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.295;DP=284;ExcessHet=0;FS=1.471;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.56;ReadPosRankSum=-1.287;SOR=1.022	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:14,12:26:99:0|1:18777098_G_T:311,0,383:18777098	6	0	1	0
chr9	35295883	35295883	C	A	exonic	UNC13B	.	nonsynonymous SNV	UNC13B:NM_001330653:exon8:c.C714A:p.D238E,UNC13B:NM_001371186:exon8:c.C714A:p.D238E,UNC13B:NM_001371189:exon8:c.C714A:p.D238E,UNC13B:NM_006377:exon8:c.C714A:p.D238E	.	435	1048	37	2	0	41	0.0191858	.	.	.	700991	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.145	.	0.0106	0.00479233	0.0084	0.0021	0.0074	0	0	0.0122	0.0167	0.0044	0.0081047	1253	154602	rs35199210	0.0096	0.0096	0.0096	0.0097	0.0333	0.0095	0.0094	0.0294	0.0280	0.0025	0.0102	0.0514	0	0.0002	0.0333	0.0097	0.0136	0.0040	0.0077	0.0077	0.0080	0.0073	0.0110	0.0073	0.0072	0.0097	0.0092	0.0019	0.0033	0.0110	0.0521	0.0006	9.434e-05	0.0102	0.0099	0.0170	0.0037	0.004	0.65419	D	0.171	0.33780	T	0.884	0.48618	P	0.138	0.33406	B	0.000984	0.40743	D	0.236533	0.972537	0.38954	D	2.35	0.67516	M	-1.98	0.85247	D	-0.37	0.14000	N	0.588	0.60833	-0.4719	0.69658	T	0.281	0.65299	T	10	0.0052330196	0.00114	T	.	.	.	0.145	0.38592	0.148	0.05138	0.660788651602	0.65794	0.19109466861837113	0.19027	0.263833591492	0.28942	0.610554933548	0.54395	T	0.016412	0.43235	T	-0.275902	0.11107	T	-0.159695	0.58380	T	0.0356482401155776	0.02920	T	0.89601	0.67171	D	0.08653681	0.20117	0.09496227	0.22500	0.08653681	0.20117	0.09496227	0.22500	-3.877	0.21958	T	.	.	0.263	0.65078	B	.;.;.;.	.;.;.;.	1.389786	0.18026	13.50	0.99145607044478112	0.53655	0.97075	0.72544	D	AEFBI	0.589649	0.58645	D	-0.393676163815362	0.25693	1.396658	-0.328153910817774	0.27193	1.507234	0.018091049775015	0.13020	0.706298	0.61202	0	0.588015	0.36545	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.8	1.96	0.25203	1.824000	0.38710	0.129000	0.15021	-0.231000	0.07715	1.000000	0.71638	0.944000	0.28851	0.993000	0.69303	0.0:0.7439:0.0:0.2561	12.280	0.54079	167	0.93508	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.023666	0.025253	0.033967	0.014620	0.050000	0.017241	0.018293	0.015152	0.1429	2210.42	33	chr9	35295883	.	C	A	2210.42	.	AC=2;AF=0.143;AN=14;DP=247;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=30.7;SOR=0.934	GT:AD:DP:GQ:PL	1/1:0,72:72:99:2231,216,0	6	1	0	0
chr9	35906578	35906578	-	CACCACCTCCAC	exonic	HRCT1	.	nonframeshift insertion	HRCT1:NM_001039792:exon1:c.291_292insCACCACCTCCAC:p.H103_H104insLHHH	.	594	912	5	3	8	19	0.00599455	.	.	.	3887060	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.1283	.	0.0017	0	0.0009	0.0002	0	0.0024	0.0137	0.0014	5.17e-05	8	154602	rs745974201	0.0046	0.0047	0.0046	0.0047	0.0113	0.0045	0.0045	0.0086	0.0076	0.0008	0.0023	0.0269	0.0001	6.03e-05	0.0113	0.0045	0.0065	0.0039	0.0062	0.0068	0.0061	0.0064	0.0068	0.0057	0.0055	0.0061	0.0058	0.0023	0.0030	0.0041	0.0396	0	0	0	0.0068	0.0084	0.0061	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	856.86	36	chr9	35906578	.	T	TCACCACCTCCAC	856.86	.	AC=2;AF=0.167;AN=12;DP=213;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=35.55;SOR=1.508	GT:AD:DP:GQ:PL	1/1:0,21:21:62:876,62,0	5	1	0	1
chr9	37746717	37746717	C	T	exonic	FRMPD1	.	nonsynonymous SNV	FRMPD1:NM_001371223:exon16:c.C4685T:p.T1562M,FRMPD1:NM_001371225:exon16:c.C4685T:p.T1562M,FRMPD1:NM_014907:exon16:c.C4685T:p.T1562M,FRMPD1:NM_001371224:exon17:c.C4685T:p.T1562M	.	425	1083	14	0	0	14	0.00642202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.182	0.0181044419361	0.0005	0.000998403	0.0013	0.0002	0.0004	0.0001	0	0.0009	0.0011	0.0051	0.0010349	160	154602	rs138292555	0.0010	0.0010	0.0008	0.0011	0.0048	0.0009	0.0009	0.0045	0.0043	0.0002	0.0005	0	0.0002	1.879e-05	0.0043	0.0008	0.0009	0.0048	0.0006	0.0006	0.0005	0.0007	0.0066	0.0005	0.0005	0.0048	0.0042	0.0001	0	0.0008	0	0	0	0	0.0006	0.0014	0.0066	0.0	0.91255	D	0.002	0.79402	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	2.095	0.58118	M	2.72	0.11947	T	-2.51	0.54546	D	0.65	0.66101	-1.1252	0.02026	T	0.095	0.35871	T	10	0.013040841	0.00278	T	0.018104	0.40048	T	0.182	0.45420	.	.	0.617646156206	0.61455	0.6220305346248838	0.62136	0.644980302806	0.57974	0.547689378262	0.45532	T	0.134961	0.46651	T	-0.292635	0.09373	T	-0.192311	0.55373	T	0.0748716071248055	0.09318	T	0.833117	0.50161	T	0.36147833	0.57948	0.39572087	0.64232	0.36147833	0.57949	0.39572087	0.64232	-4.964	0.36447	T	.	.	0.205	0.43186	B	.;.	.;.	4.557147	0.71774	25.7	0.99917412614993062	0.98518	0.97174	0.73125	D	AEFDBI	0.483911	0.52415	N	0.693957481417395	0.79237	7.035421	0.682701674811385	0.81068	7.440592	0.99999999999977	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.71	5.71	0.89031	4.239000	0.58490	7.674000	0.64943	0.599000	0.40250	0.999000	0.42656	1.000000	0.68203	0.776000	0.36750	0.0:1.0:0.0:0.0	17.358	0.87230	671	0.60868	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.005051	0.001359	0.011696	0.000000	0.008621	0.003049	0.003788	0.08333	803.27	34	chr9	37746717	.	C	T	803.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.56;DP=276;ExcessHet=0;FS=0.836;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.56;ReadPosRankSum=0.027;SOR=0.864	GT:AD:DP:GQ:PL	0/1:48,36:84:99:813,0,1047	5	0	1	1
chr9	77316303	77316303	A	G	exonic	VPS13A	.	nonsynonymous SNV	VPS13A:NM_001018037:exon38:c.A4643G:p.Y1548C,VPS13A:NM_001018038:exon39:c.A4760G:p.Y1587C,VPS13A:NM_015186:exon39:c.A4760G:p.Y1587C,VPS13A:NM_033305:exon39:c.A4760G:p.Y1587C	Choreoacanthocytosis, Autosomal recessive	2	1514	6	0	0	6	0.00197759	.	.	.	441349	not_specified|Chorea-acanthocytosis|not_provided	MedGen:CN169374|MONDO:MONDO:0008695,MedGen:C0393576,OMIM:200150,Orphanet:2388|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.069	.	0.0061	0.00319489	0.0044	0.0017	0.0010	0.0001	0.0014	0.0065	0.0033	0.0031	0.0047089	728	154602	rs149840356	0.0086	0.0086	0.0089	0.0083	0.0103	0.0085	0.0084	0.0101	0.0101	0.0013	0.0012	0.0064	0	0.0020	0.0012	0.0103	0.0068	0.0038	0.0053	0.0053	0.0057	0.0048	0.0095	0.0050	0.0048	0.0089	0.0086	0.0016	0	0.0023	0.0037	0	0.0014	0	0.0095	0.0028	0.0041	0.126	0.27663	T	0.093	0.39954	T	0.0	0.02946	B	0.001	0.08700	B	0.555016	0.11395	N	0.805247	1	0.08975	N	-0.51	0.02586	N	0.95	0.43279	T	-0.99	0.27876	N	0.289	0.35194	-1.0332	0.19427	T	0.027	0.11618	T	10	0.0065418184	0.00148	T	.	.	.	0.069	0.20116	.	.	0.403469152278	0.39964	0.6182861765832758	0.61761	0.162420817521	0.18320	0.249313220382	0.03696	T	0.280844	0.65356	T	-0.560341	0.00252	T	-0.569706	0.15476	T	0.00451180318300457	0.00048	T	0.789321	0.42944	T	0.06427054	0.13619	0.054362636	0.09337	0.06039746	0.12387	0.07859545	0.17619	-5.936	0.46163	T	.	.	0.052	0.00203	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.152926	0.27425	17.46	0.88483306851955223	0.18012	0.20578	0.21093	N	AEFGHCI	0.028847	0.02616	N	-0.887458487951972	0.11140	0.5360051	-0.73298904044958	0.16142	0.8524755	0.00850442593376431	0.11689	0.706298	0.61202	0	0.708844	0.79440	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.24	1.22	0.20300	2.709000	0.46828	0.178000	0.15598	-0.050000	0.17177	1.000000	0.71638	0.059000	0.21998	0.991000	0.66497	0.2169:0.0:0.395:0.3881	4.759	0.12472	868	0.31772	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	463.46	33	chr9	77316303	.	A	G	463.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.164;DP=237;ExcessHet=0;FS=5.218;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.36;ReadPosRankSum=-2.881;SOR=0.419	GT:AD:DP:GQ:PL	0/1:38,25:63:99:474,0,891	6	0	1	0
chr9	92080918	92080918	G	C	exonic	SPTLC1	.	nonsynonymous SNV	SPTLC1:NM_001281303:exon4:c.C306G:p.N102K,SPTLC1:NM_006415:exon4:c.C306G:p.N102K,SPTLC1:NM_178324:exon4:c.C306G:p.N102K	Neuropathy, hereditary sensory and autonomic, type IA, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.845	0.399896509883	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0.0068	0.0012	0.0010	0.0013	0.0011	0.0010	0.0013	0.0012	0.0012	4.477e-05	0.0003	0.0002	1.873e-05	0.0009	0.0013	0.0009	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.91255	D	0.005	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.83	0.95627	H	-3.73	0.95458	D	-5.47	0.87143	D	0.946	0.96984	1.004	0.97255	D	0.941	0.98064	D	10	0.97626525	0.97408	D	0.399897	0.93374	D	0.845	0.95175	0.798	0.91802	0.945416172085	0.94484	0.9614716476571766	0.96133	1.13632118652	0.78799	0.737543225288	0.72611	T	0.97255	0.99710	D	0.219858	0.75763	D	0.0780339	0.75447	D	0.995089709758759	0.86803	D	0.978602	0.92442	D	0.9519136	0.96460	0.8880654	0.94130	0.9519136	0.96460	0.8880654	0.94130	-14.216	0.93737	D	0.860758186576928	0.92428	0.988	0.93037	P	.;.	.;.	4.020987	0.59386	24.1	0.9926344721683531	0.57289	0.83408	0.42527	D	AEFBI	0.256177	0.37516	N	0.211284656944223	0.51746	3.353416	0.0637648407406021	0.42742	2.59063	0.00398181740670549	0.10368	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.0	2.15	0.26590	1.717000	0.37612	4.300000	0.42938	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.3508:0.0:0.6492:0.0	10.600	0.44552	892	0.26670	Aminotransferase, class I/classII;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	4599.95	248	chr9	92080918	.	G	C	4599.95	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-2.454;DP=1972;ExcessHet=14.2834;FS=456.727;MLEAC=7;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.56;ReadPosRankSum=0.555;SOR=12.059	GT:AD:DP:GQ:PL	0/1:81,59:140:99:349,0,1284	0	0	7	0
chr9	94097755	94097755	G	T	exonic	PTPDC1	.	nonsynonymous SNV	PTPDC1:NM_001253829:exon6:c.G1189T:p.V397L,PTPDC1:NM_152422:exon6:c.G1183T:p.V395L,PTPDC1:NM_001253830:exon7:c.G1027T:p.V343L,PTPDC1:NM_177995:exon7:c.G1027T:p.V343L	.	431	1087	4	0	0	4	0.00183655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.00348884610119	0.0005	.	0.0002	0	0	0	0	0.0004	0	0	0.0002264	35	154602	rs149978079	0.0002	0.0002	0.0002	0.0003	0.0009	0.0002	0.0002	0.0003	0.0002	2.987e-05	8.944e-05	0.0052	0	3.745e-05	0.0009	0.0001	0.0007	0	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	0.0001	0.0001	8.876e-05	0	0	0.0001	0.0037	0	0	0	0.0002	0.0005	0	0.383	0.11085	T	0.751	0.05786	T	0.002	0.09854	B	0.001	0.08700	B	0.509895	0.05141	N	1.210480	1	0.08975	N	0.895	0.22405	L	2.75	0.11622	T	-0.35	0.13418	N	0.047	0.01911	-0.9503	0.40920	T	0.019	0.07846	T	10	0.0035221577	0.00063	T	0.003489	0.07908	T	0.011	0.01250	0.18	0.08751	0.132336055621	0.12781	0.19289980335789048	0.19207	0.128429936232	0.14478	0.23697540164	0.02524	T	0.011618	0.11431	T	-0.603165	0.00140	T	-0.834881	0.01179	T	0.0139241608688705	0.00266	T	0.694731	0.30434	T	0.033091936	0.03459	0.028438801	0.01081	0.033091936	0.03458	0.028438801	0.01081	-2.609	0.06572	T	.	.	0.098	0.18206	B	.;.;.;.	.;.;.;.	-0.198942	0.03094	0.489	0.69780055406670238	0.09082	0.14923	0.18655	N	AEFGBCI	0.058012	0.10853	N	-1.13216318009671	0.06078	0.2788582	-1.10686664743485	0.07568	0.3686369	0.999887927403619	0.44867	0.660377	0.49826	0	0.670034	0.63936	0	0.696353	0.63694	0	0.635551	0.53088	0	.	.	6.17	1.28	0.20656	-0.336000	0.07908	0.804000	0.21687	-0.106000	0.15538	0.000000	0.06391	0.000000	0.08366	0.152000	0.20376	0.4342:0.0:0.4362:0.1296	5.429	0.15742	870	0.31527	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.010101	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	1357.46	34	chr9	94097755	.	G	T	1357.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.414;DP=279;ExcessHet=0;FS=0.777;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.57;ReadPosRankSum=0.993;SOR=0.553	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:62,38:100:99:0|1:94097755_G_T:1368,0,2469:94097755	6	0	1	0
chr9	99218703	99218703	C	T	exonic	ALG2	.	stopgain	ALG2:NM_033087:exon2:c.G482A:p.W161X	Myasthenic syndrome, congenital, 14, with tubular aggregates, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.828	0.82358	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.597158	0.97652	D	0.62	0.97616	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.	High;.	8.458503	0.97591	37	0.99695024936768817	0.80180	0.97647	0.76137	D	AEFBCI	0.261998	0.37983	N	0.920796990238025	0.92741	11.601	0.789631596824565	0.89062	9.823793	0.999999999999992	0.74766	0.67177	0.52595	0	0.672317	0.65289	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	5.16	5.16	0.70563	7.503000	0.80474	7.668000	0.64620	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.912000	0.44740	0.0:1.0:0.0:0.0	19.019	0.92882	467	0.78285	Glycosyltransferase subfamily 4-like, N-terminal domain;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2143	72.9	34	chr9	99218703	.	C	T	72.9	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-3.371;DP=501;ExcessHet=1.1394;FS=189.497;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=0.25;ReadPosRankSum=1.4;SOR=9.269	GT:AD:DP:GQ:PL	0/1:50,17:67:5:5,0,875	4	0	3	0
chr9	100253117	100253117	C	T	exonic	INVS	.	nonsynonymous SNV	INVS:NM_001318382:exon10:c.C467T:p.P156L,INVS:NM_014425:exon10:c.C1445T:p.P482L,INVS:NM_001318381:exon11:c.C1157T:p.P386L	Nephronophthisis 2, infantile, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.507	0.14810263074	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.846e-07	1.368e-06	0	1.376e-06	9e-07	0	0	.	.	0	0	0	0	0	0	9e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.437	0.16358	T	0.147	0.32783	T	0.977	0.58535	D	0.962	0.70672	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.31	0.10265	N	0.13	0.81900	T	-2.2	0.49519	N	0.746	0.74553	-0.1216	0.79597	T	0.571	0.84476	D	10	0.76058435	0.76314	D	0.148103	0.83006	D	0.507	0.78786	0.514	0.61307	0.851262235679	0.84983	0.7398040293661251	0.73925	0.79841149638	0.66131	0.864979743958	0.91843	D	0.233197	0.59994	T	0.332525	0.85334	D	0.239872	0.85141	D	0.903226256370544	0.55638	D	0.985476	0.95907	D	0.12368413	0.29037	0.23433045	0.48647	0.12368413	0.29037	0.23433045	0.48646	-10.662	0.77772	D	.	.	0.939	0.85842	P	.;.	.;.	5.058116	0.84292	28.3	0.99830792758412423	0.91284	0.98862	0.87844	D	AEFBI	0.885040	0.81523	D	0.56708386729265	0.71128	5.604152	0.647914624121513	0.78455	6.879808	0.999999999548214	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.85	5.85	0.93663	7.905000	0.86479	7.675000	0.64997	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	20.173	0.98166	577	0.69927	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	217.27	30	chr9	100253117	.	C	T	217.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.235;DP=187;ExcessHet=0;FS=5.035;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.07;ReadPosRankSum=-1.646;SOR=2.215	GT:AD:DP:GQ:PL	0/1:10,8:18:99:227,0,259	5	0	1	1
chr9	112689615	112689615	A	G	exonic	INIP	.	nonsynonymous SNV	INIP:NM_001329589:exon3:c.T41C:p.I14T,INIP:NM_001329590:exon4:c.T41C:p.I14T,INIP:NM_021218:exon4:c.T131C:p.I44T,INIP:NM_001329585:exon5:c.T122C:p.I41T,INIP:NM_001329588:exon5:c.T41C:p.I14T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.408	0.00946563024945	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1420434599	8.214e-06	8.893e-06	9.536e-06	6.88e-06	2.32e-05	4.38e-06	3.46e-06	3.85e-06	2.76e-06	0	2.236e-05	0	0	0	0	8.1e-06	0	2.32e-05	1.314e-05	1.313e-05	1.284e-05	1.345e-05	2.939e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0	0.13	0.91255	T	0.497	0.66756	T	0.989	0.62824	D	0.978	0.74104	D	0.000000	0.84330	D	0.043766	1	0.81001	D	2.155	0.60227	M	.	.	.	-1.1	0.29525	N	0.914	0.96644	-0.1811	0.78153	T	0.415	0.76232	T	9	0.6152924	0.67671	D	0.009466	0.24809	T	0.408	0.72022	0.273	0.22369	0.173771789658	0.16945	0.5259262445978642	0.52516	1.04060265432	0.75784	0.71062541008	0.68684	T	0.018853	0.15125	T	0.379005	0.88644	D	0.389503	0.91763	D	0.563923895359039	0.35004	D	0.862314	0.55722	D	0.19265652	0.40943	0.24645922	0.50156	0.19265652	0.40943	0.24645922	0.50155	-2.153	0.03818	T	.	.	0.669	0.73400	P	.;.	.;.	4.515622	0.70752	25.6	0.99189078385905294	0.54906	0.97807	0.77277	D	AEFBI	0.875353	0.79873	D	0.651546067839974	0.76468	6.492251	0.603620230617292	0.75202	6.269	0.999999757431623	0.74766	0.566229	0.32551	0	0.653731	0.59785	0	0.663124	0.60104	0	0.674467	0.66132	0	.	.	5.74	5.74	0.90070	8.215000	0.89718	11.085000	0.85821	0.686000	0.82685	1.000000	0.71638	1.000000	0.68203	0.891000	0.42908	1.0:0.0:0.0:0.0	16.046	0.80526	536	0.73233	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	352.45	34	chr9	112689615	.	A	G	352.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.13;DP=221;ExcessHet=0;FS=2.68;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.6;ReadPosRankSum=-0.214;SOR=1.141	GT:AD:DP:GQ:PL	0/1:25,16:41:99:363,0,571	6	0	1	0
chr9	121158119	121158119	T	C	exonic	CNTRL	.	stoploss	CNTRL:NM_001369894:exon30:c.T4831C:p.X1611Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.376e-05	0	0	0.0004	0	0	0	6.118e-05	2.59e-05	4	154602	rs755095776	3.356e-05	3.352e-05	3.68e-05	3.028e-05	0.0011	2.569e-05	2.314e-05	0.0008	0.0007	9.024e-05	0	0	0.0011	0	0	0	1.659e-05	3.484e-05	2.628e-05	2.627e-05	5.138e-05	0	0.0008	8.14e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0.0008	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	298.49	10	chr9	121158119	.	T	C	298.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.641;DP=132;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=19.9;ReadPosRankSum=-2.289;SOR=0.818	GT:AD:DP:GQ:PL	0/1:4,11:15:81:309,0,81	6	0	1	0
chr9	122390342	122390342	G	A	exonic	PTGS1	.	nonsynonymous SNV	PTGS1:NM_001271164:exon9:c.G1297A:p.V433I,PTGS1:NM_001271165:exon9:c.G1114A:p.V372I,PTGS1:NM_000962:exon10:c.G1441A:p.V481I,PTGS1:NM_001271166:exon10:c.G1003A:p.V335I,PTGS1:NM_001271367:exon10:c.G1003A:p.V335I,PTGS1:NM_080591:exon10:c.G1330A:p.V444I,PTGS1:NM_001271368:exon11:c.G1255A:p.V419I	.	412	1099	10	1	0	12	0.00542986	.	.	.	3185198	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.250	.	0.0058	0.00658946	0.0076	0.0020	0.0057	0.0004	0.0068	0.0100	0.0057	0.0065	0.0073932	1143	154602	rs5794	0.0082	0.0082	0.0081	0.0082	0.0088	0.0080	0.0080	0.0086	0.0086	0.0024	0.0058	0.0118	0.0003	0.0074	0.0064	0.0088	0.0072	0.0076	0.0063	0.0063	0.0061	0.0064	0.0086	0.0060	0.0058	0.0080	0.0078	0.0025	0	0.0080	0.0081	0	0.0051	0.0136	0.0086	0.0095	0.0085	0.004	0.78490	D	0.01	0.76473	D	0.1	0.25713	B	0.108	0.31289	B	0.000066	0.52346	D	0.197844	0.963965	0.26002	N	0	0.06538	N	2.99	0.09262	T	-0.92	0.25118	N	0.225	0.25377	-1.0157	0.25110	T	0.012	0.04747	T	10	0.009871095	0.00221	T	.	.	.	0.250	0.55888	.	.	0.442363741745	0.43858	0.632608548182357	0.63194	0.271975426216	0.29707	0.484568476677	0.36686	T	0.136546	0.46898	T	-0.416541	0.01800	T	-0.360721	0.37969	T	0.0620336465735846	0.07485	T	0.873013	0.60027	D	0.2699408	0.50066	0.15628308	0.36596	0.2699408	0.50066	0.15628308	0.36595	-1.917	0.02914	T	.	.	0.105	0.24054	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.622330	0.34083	19.53	0.99004802753294774	0.50231	0.17537	0.19880	N	AEFDGBCIJ	0.092179	0.18663	N	-0.362090131955795	0.26831	1.467337	-0.184664653741837	0.32098	1.822901	0.999999998826456	0.74766	0.740787	0.97801	0	0.696367	0.67918	0	0.651303	0.49530	0	0.635259	0.50027	0	.	.	5.38	4.25	0.49658	7.512000	0.80617	8.123000	0.76630	-0.116000	0.14526	1.000000	0.71638	1.000000	0.68203	0.830000	0.39126	0.9178:0.0:0.0822:0.0	9.787	0.39849	896	0.25515	.;.;.;.;.;.;.	.	.	PTGS1	Cells_Cultured_fibroblasts	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.014617	0.030303	0.005435	0.020468	0.000000	0.017241	0.015337	0.015152	0.1429	1460.04	35	chr9	122390342	.	G	A	1460.04	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.662;DP=255;ExcessHet=0.3476;FS=0.703;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=12.7;ReadPosRankSum=0.619;SOR=0.607	GT:AD:DP:GQ:PL	0/1:17,18:35:99:430,0,370	5	0	2	0
chr9	122724732	122724732	T	C	exonic	OR1L4	.	nonsynonymous SNV	OR1L4:NM_001005235:exon1:c.T743C:p.V248A	.	428	916	178	0	0	178	0.0885572	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.00143063714583	.	.	6.622e-05	0	0.0002	0.0001	0.0002	6.017e-05	0	0	3.84e-05	1	26028	rs748975619	0.0001	0.0021	7.836e-05	0.0002	0.0008	0.0001	0.0001	0.0003	0.0002	9.132e-05	0.0002	7.963e-05	0.0002	4.349e-05	0.0008	0.0002	0.0003	3.688e-05	0.0002	0.0017	0.0001	0.0002	0.0005	0.0001	8.825e-05	8.643e-05	4.843e-05	0.0001	0	0.0002	0	0.0002	0.0003	0	0.0001	0	0.0005	0.066	0.36113	T	0.063	0.45110	T	0.002	0.09854	B	0.012	0.16012	B	0.119040	0.19091	N	0.433255	1	0.08975	N	2.24	0.63355	M	8.47	0.00218	T	-3.71	0.70674	D	0.163	0.17140	-0.9813	0.34701	T	0.000	0.00152	T	10	0.08632538	0.14663	T	0.001431	0.02139	T	0.060	0.17295	.	.	0.380730819819	0.37686	0.050310918284802233	0.04974	0.137390497862	0.15494	0.204048782587	0.00584	T	0.018055	0.14619	T	-0.26113	0.12768	T	-0.612872	0.11753	T	0.0930222347378731	0.11572	T	0.328467	0.06836	T	0.12669528	0.29668	0.18975647	0.42339	0.12669528	0.29667	0.18975647	0.42339	-5.477	0.41653	T	.	.	0.162	0.35767	B	.	.	1.361823	0.17710	13.32	0.37116804741921844	0.02427	0.22928	0.21909	N	AEFGBI	0.092843	0.18792	N	-1.18873539693136	0.05170	0.2350358	-1.18788360110161	0.06111	0.2931782	0.00732444700759022	0.11439	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.23	3.09	0.34677	0.354000	0.19885	0.254000	0.16463	-1.735000	0.00709	0.000000	0.06391	0.000000	0.08366	0.027000	0.12703	0.0:0.1836:0.0:0.8164	7.537	0.26888	889	0.27310	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.066465	0.232323	0.014946	0.032164	0.150000	0.008621	0.100610	0.034091	0.3333	734.64	202	chr9	122724732	.	T	C	734.64	.	AC=2;AF=0.333;AN=6;BaseQRankSum=6.21;DP=1379;ExcessHet=0.3476;FS=15.837;MLEAC=3;MLEAF=0.5;MQ=58.3;MQRankSum=-1.645;QD=5.07;ReadPosRankSum=-1.645;SOR=2.537	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:117,28:145:99:0|1:122724732_T_C:727,0,4738:122724732	1	0	2	4
chr9	122724738	122724738	T	C	exonic	OR1L4	.	nonsynonymous SNV	OR1L4:NM_001005235:exon1:c.T749C:p.V250A	.	428	1012	82	0	0	82	0.0389364	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.00138298223274	.	.	8.242e-06	0	0	0	0	1.499e-05	0	0	3.84e-05	1	26028	rs773750205	4.128e-06	0.0017	4.098e-06	4.158e-06	4.494e-05	1.49e-06	9.8e-07	7.45e-06	2.79e-06	2.995e-05	4.494e-05	0	2.533e-05	0	0	9.039e-07	1.665e-05	0	2.725e-05	0.0009	3.982e-05	1.4e-05	0.0002	8.37e-06	5.29e-06	.	.	2.5e-05	0	0	0	0	0.0002	0	0	0	0.0002	0.56	0.06381	T	0.334	0.18340	T	0.0	0.02946	B	0.003	0.08700	B	0.363490	0.04318	N	1.430160	1	0.08975	N	-0.355	0.03127	N	0.93	0.44065	T	0.28	0.04233	N	0.048	0.01999	-1.0082	0.27479	T	0.042	0.17994	T	10	0.027532607	0.00898	T	0.001383	0.02011	T	0.010	0.01040	.	.	0.146414634003	0.14194	0.029921180382566498	0.02941	0.133905216648	0.15082	0.228572815657	0.01864	T	0.008154	0.07505	T	-0.373075	0.03441	T	-0.773673	0.02649	T	0.0352781535904976	0.02857	T	0.0471953	0.00337	T	0.018524058	0.00374	0.028399432	0.01073	0.018524058	0.00374	0.028399432	0.01073	-3.488	0.16265	T	.	.	0.091	0.13127	B	.	.	-1.366501	0.00385	0.007	0.26517900806360473	0.01274	0.00656	0.02847	N	AEFGBI	0.051091	0.08994	N	-1.92157175688344	0.00310	0.01331125	-1.9879660246432	0.00325	0.01433726	0.679012312914238	0.22457	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.23	-7.85	0.01056	-3.495000	0.00503	-12.828000	0.00498	-1.735000	0.00709	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2704:0.1842:0.5455	8.760	0.33827	889	0.27310	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.125	528.19	195	chr9	122724738	.	T	C	528.19	.	AC=1;AF=0.125;AN=8;BaseQRankSum=3.33;DP=753;ExcessHet=0;FS=21.45;MLEAC=1;MLEAF=0.125;MQ=58.14;MQRankSum=-10.87;QD=3.88;ReadPosRankSum=-4.356;SOR=4.093	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:115,21:136:99:0|1:122724732_T_C:536,0,4739:122724732	3	0	1	3
chr9	128332174	128332174	G	A	exonic	COQ4	.	nonsynonymous SNV	COQ4:NM_016035:exon5:c.G424A:p.A142T	Coenzyme Q10 deficiency, primary, 7, Autosomal recessive	420	1061	38	3	0	44	0.0203139	.	.	.	370324	not_provided|Neonatal_encephalomyopathy-cardiomyopathy-respiratory_distress_syndrome|not_specified	MedGen:C3661900|MONDO:MONDO:0014562,MedGen:C5568562,OMIM:616276,Orphanet:457185|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.163	.	0.0025	0.0091853	0.0172	0.0019	0.0035	0.0006	0.0017	0.0106	0.0076	0.0416	0.0060543	936	154602	rs34043652	0.0057	0.0057	0.0048	0.0066	0.0331	0.0056	0.0055	0.0321	0.0317	0.0012	0.0016	0.0021	5.274e-05	0.0004	0.0148	0.0044	0.0055	0.0331	0.0037	0.0037	0.0033	0.0042	0.0334	0.0035	0.0033	0.0292	0.0276	0.0008	0	0.0024	0.0035	0	0.0003	0.0136	0.0045	0.0033	0.0334	0.449	0.09022	T	0.511	0.10785	T	0.982	0.60036	D	0.767	0.56720	P	0.000670	0.42516	D	0.267657	0.999905	0.19694	N	2.26	0.64354	M	0.88	0.46028	T	-1.28	0.32185	N	0.233	0.26233	-0.8356	0.52937	T	0.143	0.46459	T	10	0.007909	0.00179	T	.	.	.	0.163	0.42028	.	.	0.589665606642	0.58642	0.4398756359911274	0.43904	0.611868390324	0.55801	0.373806595802	0.21377	T	0.165191	0.51094	T	-0.558499	0.00259	T	-0.550647	0.17265	T	0.0325917881327479	0.02404	T	0.909609	0.68017	D	0.05415084	0.10350	0.077319644	0.17210	0.050297037	0.09065	0.06649144	0.13626	-4.972	0.36534	T	0.20917695901469	0.27996	0.101	0.17700	B	.	.	3.856571	0.55900	23.7	0.99394376498206649	0.62474	0.66322	0.33038	D	AEFDBCI	0.410087	0.48110	N	0.502736449469989	0.67250	5.056811	0.524640981072112	0.69652	5.391109	0.999945172294767	0.47345	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.85	5.85	0.93663	4.850000	0.62587	6.780000	0.56581	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.855000	0.40485	0.1447:0.1546:0.7007:0.0	6.675	0.22281	329	0.86514	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.013198	0.010526	0.009511	0.005848	0.000000	0.017241	0.009317	0.038168	0.07143	220.49	20	chr9	128332174	.	G	A	220.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.524;DP=175;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=18.37;ReadPosRankSum=0;SOR=0.859	GT:AD:DP:GQ:PL	0/1:3,9:12:54:231,0,54	6	0	1	0
chr9	136799725	136799725	A	T	exonic	CCDC183	.	nonsynonymous SNV	CCDC183:NM_001039374:exon3:c.A205T:p.T69S	.	426	1076	19	1	0	21	0.00966406	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.00765807881367	0.0022	0.000399361	0.0025	0.0005	0.0020	0	0.0007	0.0033	0.0089	0.0027	0.0022833	353	154602	rs199913585	0.0023	0.0023	0.0022	0.0024	0.0305	0.0022	0.0022	0.0268	0.0254	0.0008	0.0020	0.0178	0	0.0003	0.0305	0.0019	0.0038	0.0031	0.0017	0.0017	0.0019	0.0015	0.0031	0.0016	0.0015	0.0019	0.0015	0.0004	0	0.0019	0.0202	0	0.0004	0.0306	0.0017	0.0038	0.0031	0.373	0.11442	T	0.039	0.51112	D	0.047	0.21998	B	0.022	0.19653	B	0.938737	0.07581	U	1.047410	0.999996	0.08975	N	1.935	0.51832	L	2.72	0.11947	T	-0.84	0.22944	N	0.202	0.22357	-0.9336	0.43605	T	0.024	0.10013	T	10	0.0049142838	0.00105	T	0.007658	0.20325	T	0.038	0.09825	0.191	0.10171	0.104622674875	0.10061	0.10181276940102582	0.10112	0.207345201098	0.23191	0.343333005905	0.16936	T	0.008954	0.08187	T	-0.642098	0.00081	T	-0.700032	0.05824	T	0.01447804924367	0.00294	T	0.534647	0.17878	T	0.11584996	0.27332	0.07161225	0.15356	0.11584996	0.27332	0.07161225	0.15355	-3.254	0.13151	T	.	.	0.143	0.31482	B	.	.	2.203206	0.28101	17.69	0.91985349370051916	0.21318	0.05868	0.11815	N	AEFDBHCI	0.054065	0.09798	N	-1.12903859983484	0.06132	0.2814402	-1.20507104331509	0.05828	0.2787952	0.999999927819922	0.74766	0.443343	0.08805	1	0.552344	0.17405	0	0.666236	0.60216	0	0.620976	0.48614	0	.	.	5.28	-4.68	0.03070	0.530000	0.22742	0.564000	0.19539	0.658000	0.54486	0.688000	0.28513	0.048000	0.21764	0.456000	0.28029	0.3242:0.0:0.401:0.2747	4.424	0.10921	976	0.04745	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.024772	0.055556	0.024523	0.049708	0.000000	0.025862	0.003086	0.003817	0.07143	398.63	33	chr9	136799725	.	A	T	398.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.56;DP=209;ExcessHet=0;FS=1.377;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.08;ReadPosRankSum=2.1;SOR=0.791	GT:AD:DP:GQ:PL	0/1:13,20:33:99:409,0,265	6	0	1	0
chr9	137306981	137306981	G	A	exonic	EXD3	.	nonsynonymous SNV	EXD3:NM_017820:exon22:c.C2600T:p.P867L	.	420	1072	30	0	0	30	0.0137994	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	.	0.0038	0.00778754	0.0068	0.0006	0.0033	0.0001	0.0021	0.0059	0.0094	0.0271	0.0058343	902	154602	rs118011827	0.0049	0.0049	0.0044	0.0055	0.0177	0.0048	0.0048	0.0170	0.0167	0.0006	0.0036	0.0045	5.061e-05	0.0017	0.0132	0.0044	0.0056	0.0177	0.0037	0.0037	0.0038	0.0036	0.0180	0.0034	0.0033	0.0150	0.0138	0.0011	0	0.0041	0.0063	0	0.0015	0	0.0046	0.0057	0.0180	0.289	0.15047	T	0.089	0.40426	T	0.001	0.07471	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	0.895	0.22405	L	0.63	0.53088	T	-0.84	0.22944	N	0.064	0.03613	-1.0552	0.12987	T	0.084	0.32814	T	9	0.002650559	0.00041	T	.	.	.	0.035	0.08770	.	.	0.0401082797425	0.02173	0.13143889159918148	0.13068	0.0537485315339	0.05938	0.293423980474	0.09424	T	0.004025	0.03433	T	-0.625299	0.00102	T	-0.656038	0.08536	T	0.000714748461818774	0.00006	T	0.49875	0.15541	T	0.025869284	0.01574	0.032090463	0.01891	0.025869284	0.01573	0.032090463	0.01891	-4.971	0.36523	T	.	.	0.080	0.07745	B	.	.	-0.270247	0.02750	0.368	0.72097194850595092	0.09855	0.00862	0.03425	N	AEFBI	0.048889	0.08390	N	-1.73501616686814	0.00725	0.03129348	-1.84216125642774	0.00633	0.02814956	0.999996336862171	0.74766	0.608966	0.35542	0	0.588066	0.40923	0	0.769059	0.98459	0	0.505526	0.08623	0	.	.	3.79	-6.17	0.01912	-1.162000	0.03252	-3.500000	0.02739	-0.922000	0.02193	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.122:0.226:0.3855:0.2666	2.096	0.03445	988	0.01987	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.011581	0.015152	0.010870	0.014620	0.000000	0.000000	0.006098	0.022901	0.1429	1434.24	33	chr9	137306981	.	G	A	1434.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.119;DP=262;ExcessHet=0.3476;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=13.16;ReadPosRankSum=-0.364;SOR=0.648	GT:AD:DP:GQ:PL	0/1:20,12:32:99:262,0,496	5	0	2	0
chr10	825249	825249	T	C	exonic	LARP4B	.	nonsynonymous SNV	LARP4B:NM_001351277:exon13:c.A1300G:p.S434G,LARP4B:NM_015155:exon13:c.A1300G:p.S434G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.00390173934956	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.259	0.16628	T	0.094	0.39645	T	0.034	0.20480	B	0.012	0.16012	B	0.000000	0.84330	D	0.124272	0.999909	0.50806	D	1.83	0.48079	L	1.42	0.33189	T	-1.32	0.32991	N	0.378	0.42149	-1.0760	0.08144	T	0.048	0.20553	T	10	0.09752631	0.17572	T	0.003902	0.09180	T	0.023	0.04649	0.235	0.16457	0.189391138174	0.18552	0.5409899109821052	0.54023	0.296725836107	0.32059	0.615102767944	0.55037	T	0.072244	0.34406	T	-0.147588	0.28690	T	-0.449777	0.27720	T	0.606496572494507	0.36659	D	0.835216	0.50504	T	0.1529754	0.34699	0.12790082	0.30779	0.1529754	0.34699	0.12790082	0.30779	-5.445	0.41350	T	.	.	0.098	0.19679	B	.;.	.;.	3.996231	0.58848	24.0	0.98635954636874601	0.43987	0.96367	0.68792	D	AEFDBI	0.396291	0.47282	N	-0.0822847856859552	0.38168	2.231465	0.131294021325016	0.46157	2.866445	0.999198281609489	0.38711	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.57	5.57	0.84021	5.068000	0.64193	7.942000	0.75525	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0743:0.0:0.9257	10.134	0.41870	884	0.28482	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4167	917.89	56	chr10	825249	.	T	C	917.89	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-2.679;DP=539;ExcessHet=6.1542;FS=221.567;MLEAC=5;MLEAF=0.417;MQ=60;MQRankSum=0;QD=2;ReadPosRankSum=1.29;SOR=10.035	GT:AD:DP:GQ:PL	0/1:34,15:49:11:11,0,586	1	0	5	1
chr10	5000420	5000420	T	G	exonic	AKR1C2	.	nonsynonymous SNV	AKR1C2:NM_001135241:exon4:c.A410C:p.H137P	Obesity, hyperphagia, and developmental delay (3);46XY sex reversal 8, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.00547066234238	.	.	0.0002	0.0009	0	0	0	0.0002	0	0	.	.	.	rs782514532	4.196e-06	4.104e-06	2.773e-06	5.644e-06	2.648e-05	1.51e-06	9.9e-07	1.34e-06	9.7e-07	0	0	0	2.648e-05	0	0	4.561e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.208	0.19782	T	0.345	0.17750	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.03	0.20959	T	-0.77	0.21429	N	0.136	0.13341	-1.0350	0.18857	T	0.018	0.07234	T	8	0.032782108	0.01437	T	0.005471	0.14075	T	0.008	0.00669	0.461	0.52916	0.185906805712	0.18197	.	.	.	.	.	.	.	.	.	.	-0.32937	0.06160	T	-0.710893	0.05249	T	0.0423445079990283	0.04118	T	0.153285	0.01319	T	.	.	.	.	.	.	.	.	-2.423	0.05276	T	.	.	0.070	0.03301	B	.	.	-0.759251	0.01190	0.058	0.25670294727286885	0.01194	0.00857	0.03413	N	AEFBHCI	0.105209	0.21028	N	-2.0967006759919	0.00130	0.005579749	-2.20370078481332	0.00110	0.004832397	0.999998847754029	0.74766	0.516011	0.20929	0	0.573888	0.26702	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	0.69	-1.38	0.08554	-2.990000	0.00722	-5.849000	0.01575	-4.334000	0.00033	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	398.45	42	chr10	5000420	.	T	G	398.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.293;DP=232;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.85;ReadPosRankSum=0.974;SOR=0.556	GT:AD:DP:GQ:PL	0/1:27,18:45:99:409,0,698	6	0	1	0
chr10	13283784	13283784	C	T	exonic	PHYH	.	nonsynonymous SNV	PHYH:NM_001323083:exon5:c.G470A:p.R157Q,PHYH:NM_001037537:exon6:c.G434A:p.R145Q,PHYH:NM_001323084:exon6:c.G440A:p.R147Q,PHYH:NM_001323080:exon7:c.G434A:p.R145Q,PHYH:NM_001323082:exon7:c.G740A:p.R247Q,PHYH:NM_006214:exon7:c.G734A:p.R245Q	Refsum disease, Autosomal recessive	0	1465	55	2	0	59	0.019739	.	.	YES	195700	Vitamin_D-dependent_rickets_type_II_with_alopecia|not_provided|Nonsyndromic_cleft_lip_palate|Retinal_dystrophy|Phytanic_acid_storage_disease|not_specified	MONDO:MONDO:0010186,MedGen:C0342646,OMIM:277440,Orphanet:93160|MedGen:C3661900|.|Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862|MONDO:MONDO:0009958,MedGen:C0034960,OMIM:266500,Orphanet:773|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.709	.	0.0045	0.00539137	0.0078	0.0012	0.0021	0.0002	0.0248	0.0079	0.0121	0.0127	0.0070374	1088	154602	rs62619919	0.0073	0.0073	0.0070	0.0076	0.0131	0.0072	0.0071	0.0125	0.0122	0.0011	0.0020	0.0020	7.557e-05	0.0242	0.0090	0.0068	0.0067	0.0131	0.0069	0.0070	0.0060	0.0079	0.0125	0.0066	0.0065	0.0099	0.0090	0.0011	0.0220	0.0016	0.0029	0	0.0299	0.0102	0.0083	0.0057	0.0125	0.061	0.41364	T	0.168	0.47581	T	0.948	0.53620	P	0.393	0.44248	B	0.000001	0.62929	D	0.095783	0.999999	0.58761	D	2.14	0.59869	M	-2.57	0.89692	D	-3.21	0.64826	D	0.746	0.83066	-0.0996	0.80107	T	0.487	0.80456	T	10	0.0109907985	0.00242	T	.	.	.	0.709	0.89605	.	.	0.819945016332	0.81825	0.7508317222829632	0.75030	0.422443036558	0.42745	0.316044032574	0.12821	T	0.851272	0.96618	D	0.0250171	0.55056	T	0.27419	0.86805	D	0.0586197129615423	0.06950	T	0.847515	0.53448	T	0.76901144	0.81988	0.5183276	0.72170	0.70621306	0.78400	0.5136754	0.71899	-5.679	0.46414	T	0.5775603130396747	0.64448	0.128	0.28693	B	.;.;.;.	.;.;.;.	2.910204	0.38601	20.8	0.99870173341436463	0.94815	0.82671	0.41867	D	AEFBCI	0.538925	0.55611	D	-0.0498178549336814	0.39610	2.338688	-0.0804250776182471	0.36199	2.10369	0.999955430836531	0.48110	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.75	4.85	0.62375	3.386000	0.52232	0.015000	0.13501	0.541000	0.25215	0.995000	0.38783	0.000000	0.08366	0.076000	0.17014	0.0:0.8455:0.0:0.1545	11.581	0.50145	934	0.15400	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007553	0.000000	0.005435	0.002924	0.000000	0.008621	0.006098	0.007576	0.07143	532.53	33	chr10	13283784	.	C	T	532.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.13;DP=217;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.38;ReadPosRankSum=-2.456;SOR=0.61	GT:AD:DP:GQ:PL	0/1:21,22:43:99:543,0,456	6	0	1	0
chr10	15132925	15132925	C	T	exonic	NMT2	.	nonsynonymous SNV	NMT2:NM_004808:exon6:c.G611A:p.R204H,NMT2:NM_001308295:exon7:c.G572A:p.R191H	.	420	1079	22	1	0	24	0.0109991	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.219	0.0232999992965	0.0006	0.000399361	0.0011	0	0.0005	0	0	0.0014	0.0022	0.0022	0.0010155	157	154602	rs149229412	0.0009	0.0009	0.0008	0.0009	0.0059	0.0008	0.0008	0.0043	0.0038	0.0002	0.0007	0.0064	0	0.0001	0.0059	0.0007	0.0014	0.0020	0.0010	0.0010	0.0009	0.0012	0.0017	0.0009	0.0008	0.0010	0.0009	0.0002	0.0077	0.0012	0.0072	0	9.432e-05	0.0102	0.0012	0.0014	0.0017	0.052	0.39097	T	0.124	0.35455	T	0.997	0.70673	D	0.877	0.65739	P	0.000000	0.84330	D	0.048080	1	0.81001	D	1.73	0.44655	L	0.92	0.44461	T	-2.14	0.49684	N	0.28	0.31702	-0.7865	0.55933	T	0.214	0.57481	T	10	0.015343785	0.00322	T	0.023	0.46253	T	0.219	0.51417	.	.	0.646692631277	0.64376	0.6671797662300799	0.66655	1.47514625927	0.86607	0.723498463631	0.70557	T	0.066693	0.33011	T	-0.390677	0.02663	T	-0.340741	0.40259	T	0.052325215190649	0.05903	T	0.986551	0.95418	D	0.32818633	0.55322	0.26385662	0.52197	0.32818633	0.55322	0.26385662	0.52196	-7.866	0.60153	D	.	.	0.137	0.29806	B	.;.	.;.	5.367495	0.89995	31	0.99939035407802168	0.99734	0.98720	0.85993	D	AEFBI	0.717852	0.66923	D	0.706618233948671	0.80067	7.212702	0.73089363104848	0.84726	8.372591	0.999999999972394	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.679469	0.61720	0	0.714379	0.83352	0	.	.	5.7	5.7	0.88690	6.169000	0.71792	5.974000	0.52050	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	19.835	0.96647	845	0.36510	Myristoyl-CoA:protein N-myristoyltransferase, N-terminal;Myristoyl-CoA:protein N-myristoyltransferase, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.001359	0.000000	0.000000	0.017241	0.000000	0.007576	0.1429	2926.44	37	chr10	15132925	.	C	T	2926.44	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.189;DP=372;ExcessHet=0.3476;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=12.78;ReadPosRankSum=-0.052;SOR=0.726	GT:AD:DP:GQ:PL	0/1:18,31:49:99:786,0,397	5	0	2	0
chr10	15786605	15786605	T	C	exonic	MINDY3	.	nonsynonymous SNV	MINDY3:NM_001318330:exon12:c.A553G:p.I185V,MINDY3:NM_024948:exon13:c.A1072G:p.I358V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	0.00764646248318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.884e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.33585	T	0.144	0.43721	T	0.854	0.47077	P	0.561	0.49582	P	0.000000	0.84330	D	0.046090	0.999998	0.58761	D	.	.	.	1.35	0.34648	T	-0.79	0.21860	N	0.351	0.39254	-0.9547	0.40149	T	0.134	0.44856	T	10	0.33790162	0.50904	T	0.007646	0.20299	T	0.104	0.29647	0.417	0.45709	0.117191471859	0.11215	0.29488749243866924	0.29401	0.110849007013	0.12512	0.790306091309	0.80490	T	0.073	0.34616	T	-0.123486	0.32554	T	-0.415155	0.31631	T	0.655807673931122	0.38713	D	0.927007	0.73102	D	0.16934788	0.37445	0.1360903	0.32565	0.16934788	0.37445	0.1360903	0.32564	-10.573	0.77266	D	.	.	0.133	0.49048	B	.;.	.;.	3.708980	0.52937	23.3	0.99883937248878718	0.95970	0.95907	0.66669	D	AEFBI	0.489796	0.52755	N	0.494721475490579	0.66780	4.994687	0.539890980461801	0.70698	5.543418	0.999999789403579	0.74766	0.732398	0.92422	0	0.666794	0.63253	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.52	5.52	0.82153	4.977000	0.63509	6.200000	0.54880	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.925	0.79395	905	0.23532	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3571	191.04	56	chr10	15786605	.	T	C	191.04	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-2.364;DP=461;ExcessHet=4.7409;FS=333.852;MLEAC=5;MLEAF=0.357;MQ=60;MQRankSum=0;QD=0.49;ReadPosRankSum=-0.169;SOR=9.21	GT:AD:DP:GQ:PL	0/1:42,12:54:10:10,0,703	2	0	5	0
chr10	29494967	29494967	G	C	exonic	SVIL	.	nonsynonymous SNV	SVIL:NM_003174:exon18:c.C2510G:p.S837W,SVIL:NM_001323600:exon19:c.C2606G:p.S869W,SVIL:NM_021738:exon20:c.C3788G:p.S1263W,SVIL:NM_001323599:exon21:c.C2858G:p.S953W	.	431	1088	3	0	0	3	0.00137678	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.568	0.052456661987	.	.	0.0003	0.0004	0.0004	0.0006	0	0.0001	0	0.0005	3.84e-05	1	26028	rs149199305	0.0001	0.0002	0.0001	0.0001	0.0009	0.0001	0.0001	0.0003	0.0002	0.0002	0.0002	0	0.0003	1.872e-05	0.0009	9.264e-05	0.0003	0.0003	0.0003	0.0007	0.0003	0.0002	0.0015	0.0002	0.0002	0.0007	0.0005	0.0005	0	0.0002	0	0	0	0	0.0001	0	0.0015	0.001	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.995	0.83170	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.54	0.74080	M	2.55	0.13916	T	-5.32	0.85541	D	0.706	0.88798	-0.6564	0.62434	T	0.202	0.55919	T	10	0.63816166	0.68901	D	0.052457	0.65077	D	0.568	0.82403	.	.	0.349806870941	0.34587	0.6217719145976628	0.62110	1.02942043651	0.75374	0.780887186527	0.79061	T	0.365312	0.73075	T	-0.149853	0.28335	T	-0.0698137	0.65639	T	0.155666078555088	0.17545	T	0.983202	0.94289	D	0.7757221	0.82392	0.7173749	0.83317	0.7757221	0.82394	0.7173749	0.83317	-11.19	0.85569	D	0.7224651345501137	0.80364	0.833	0.81099	P	.;.;.	.;.;.	5.023684	0.83509	28.1	0.99277297866616987	0.57765	0.99458	0.96281	D	AEFGBI	0.914421	0.87776	D	0.730624166646412	0.81639	7.569794	0.663160933409469	0.79592	7.11549	0.999999996474306	0.74766	0.706298	0.61202	0	0.547309	0.14657	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.41	4.41	0.52588	9.746000	0.98073	9.971000	0.82862	0.499000	0.22661	1.000000	0.71638	1.000000	0.68203	0.820000	0.38637	0.0:0.0:1.0:0.0	17.236	0.86884	974	0.05496	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.008621	0.003049	0.000000	0.07143	461.44	117	chr10	29494967	.	G	C	461.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.87;DP=586;ExcessHet=0;FS=0.956;MLEAC=1;MLEAF=0.071;MQ=57.19;MQRankSum=-0.571;QD=5.99;ReadPosRankSum=1.29;SOR=0.902	GT:AD:DP:GQ:PL	0/1:54,23:77:99:472,0,1235	6	0	1	0
chr10	35569102	35569102	G	A	exonic	CCNY	.	nonsynonymous SNV	CCNY:NM_001282854:exon8:c.G559A:p.A187T,CCNY:NM_001282852:exon9:c.G883A:p.A295T,CCNY:NM_145012:exon10:c.G958A:p.A320T,CCNY:NM_001282853:exon11:c.G796A:p.A266T,CCNY:NM_181698:exon12:c.G796A:p.A266T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	.	.	0.00479233	0.0013	0	8.685e-05	0.0168	0	4.526e-05	0.0011	0.0001	0.001216	188	154602	rs78190560	0.0011	0.0011	0.0010	0.0011	0.0357	0.0010	0.0010	0.0342	0.0336	5.975e-05	4.472e-05	0	0.0357	0	0.0003	6.295e-05	0.0005	0.0002	0.0008	0.0008	0.0005	0.0010	0.0209	0.0006	0.0006	0.0177	0.0165	7.212e-05	0	0	0	0.0209	0	0	5.879e-05	0	0	0.206	0.24758	T	0.161	0.33442	T	0.258	0.46254	B	0.059	0.41825	B	0.005264	0.32945	N	0.371673	0.998725	0.22461	N	1.72	0.44442	L	1.45	0.32722	T	-0.69	0.19720	N	0.028	0.01068	-1.0817	0.07022	T	0.012	0.04795	T	10	0.004594475	0.00096	T	.	.	.	0.056	0.15993	.	.	0.194818534648	0.19098	0.5153771639837983	0.51460	0.645119062426	0.57980	0.300428152084	0.10465	T	0.027268	0.20004	T	-0.667384	0.00057	T	-0.691951	0.06277	T	0.0180385879445632	0.00528	T	0.750125	0.37153	T	0.028486151	0.02194	0.048318833	0.07151	0.028486151	0.02194	0.048318833	0.07151	-5.048	0.37357	T	.	.	0.065	0.03336	B	.;.;.;.	.;.;.;.	0.555361	0.09238	6.022	0.91653850354111277	0.20942	0.57198	0.30314	D	AEFDBI	0.099680	0.20061	N	-0.88939552135162	0.11094	0.5335346	-0.919793795059598	0.11628	0.593522	0.999087449899115	0.38397	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.711	0.71501	0	.	.	5.41	0.348	0.15264	1.041000	0.29901	0.252000	0.16440	-0.949000	0.02041	0.960000	0.33603	0.000000	0.08366	0.010000	0.09038	0.2989:0.0:0.3335:0.3676	2.746	0.04942	738	0.53389	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	636.46	33	chr10	35569102	.	G	A	636.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.03;DP=247;ExcessHet=0;FS=0.971;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.43;ReadPosRankSum=-1.155;SOR=0.527	GT:AD:DP:GQ:PL	0/1:31,30:61:99:647,0,661	6	0	1	0
chr10	42820245	42820245	G	A	exonic	BMS1	.	nonsynonymous SNV	BMS1:NM_014753:exon16:c.G2590A:p.A864T	.	434	1062	24	2	0	28	0.0130112	.	.	.	3221913	BMS1-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.080	.	.	0.0413339	0.0214	0.0005	0.0012	0.1068	0.0366	0.0036	0.0234	0.0699	0.0188031	2907	154602	rs117641896	0.0099	0.0099	0.0083	0.0115	0.1394	0.0097	0.0097	0.1363	0.1350	0.0002	0.0008	0.0041	0.1394	0.0317	0.0056	0.0008	0.0111	0.0644	0.0098	0.0099	0.0066	0.0132	0.1098	0.0094	0.0092	0.1023	0.0993	0.0003	0	0.0005	0.0032	0.1098	0.0323	0.0068	0.0021	0.0104	0.0806	0.153	0.24372	T	0.2	0.27591	T	0.452	0.36118	B	0.055	0.25995	B	0.000043	0.53742	D	0.122857	0.765727	0.29491	N	.	.	.	2.3	0.16953	T	-0.78	0.21644	N	0.234	0.26354	-1.1110	0.02985	T	0.000	0.00114	T	10	0.0021870434	0.00032	T	.	.	.	0.080	0.23350	.	.	.	.	0.3486463334772223	0.34778	0.245553725906	0.27076	0.558945655823	0.47119	T	0.006068	0.05507	T	-0.643963	0.00079	T	-0.553965	0.16947	T	0.0288878418279347	0.01820	T	0.750625	0.37241	T	0.059695754	0.12161	0.10918052	0.26309	0.059695754	0.12161	0.10918052	0.26308	-5.531	0.42157	T	.	.	0.094	0.14431	B	.	.	1.724231	0.21947	15.42	0.9888946252360642	0.47984	0.93020	0.57124	D	AEFBI	0.345743	0.44079	N	-0.0387931629623697	0.40105	2.37605	0.0539609993363731	0.42265	2.553303	0.400599700177465	0.20127	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.05	5.05	0.67566	4.047000	0.57095	.	.	-0.803000	0.03144	0.979000	0.35152	1.000000	0.68203	0.053000	0.15439	0.0765:0.0:0.9235:0.0	13.840	0.62931	867	0.32089	Ribosome biogenesis protein BMS1/TSR1, C-terminal|Ribosome biogenesis protein BMS1/TSR1, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.016129	0.000000	0.005495	0.021930	0.000000	0.017241	0.011029	0.037815	0.07143	236.63	36	chr10	42820245	.	G	A	236.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.71;DP=208;ExcessHet=0;FS=1.685;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.76;ReadPosRankSum=-0.628;SOR=1.071	GT:AD:DP:GQ:PL	0/1:17,10:27:99:247,0,393	6	0	1	0
chr10	43206023	43206023	C	T	exonic	RASGEF1A	.	nonsynonymous SNV	RASGEF1A:NM_001282862:exon2:c.G118A:p.G40S,RASGEF1A:NM_145313:exon2:c.G94A:p.G32S	.	421	1075	1	0	25	26	0.0004649	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	.	0.0012	0.0355431	0.0223	0.0034	0.0008	0.1112	0.0296	0.0023	0.0198	0.0691	0.0154461	2388	154602	rs117610424	0.0082	0.0082	0.0068	0.0096	0.1059	0.0081	0.0080	0.1032	0.1021	0.0013	0.0005	0.0029	0.1059	0.0217	0.0057	0.0005	0.0106	0.0612	0.0086	0.0087	0.0062	0.0112	0.0964	0.0082	0.0081	0.0895	0.0867	0.0020	0	0.0012	0.0032	0.0964	0.0240	0.0034	0.0014	0.0061	0.0702	0.714	0.04032	T	0.728	0.05221	T	0.0	0.02946	B	0.0	0.01387	B	0.141388	0.02889	N	1.688360	1	0.08975	N	0	0.06538	N	-0.29	0.67712	T	0.34	0.03955	N	0.077	0.05162	-1.1060	0.03437	T	0.002	0.00526	T	10	0.0016499162	0.00020	T	.	.	.	0.038	0.09825	.	.	.	.	0.1659222229049595	0.16512	0.724846526864	0.62416	0.330052435398	0.14942	T	0.00418	0.03591	T	-0.626039	0.00101	T	-0.59456	0.13274	T	0.000216800669837077	0.00001	T	0.377862	0.09347	T	0.026439305	0.01702	0.038807113	0.03831	0.026439305	0.01702	0.038807113	0.03830	-4.742	0.34916	T	.	.	0.084	0.09675	B	.;.;.	.;.;.	-0.177307	0.03209	0.533	0.54145436056785945	0.05079	0.07866	0.13857	N	AEFBI	0.068383	0.13486	N	-1.7530624372783	0.00670	0.0289256	-1.79795619577989	0.00766	0.03414931	0.999932391636118	0.46732	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	3.68	-6.04	0.01995	-0.579000	0.05927	-5.905000	0.01557	-0.773000	0.03420	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.1782:0.1384:0.6834	7.288	0.25522	851	0.35303	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.008081	0.005051	0.000000	0.008824	0.000000	0.017241	0.000000	0.026515	0.1667	2707.92	35	chr10	43206023	.	C	T	2707.92	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.252;DP=271;ExcessHet=0.4139;FS=0.662;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=21.16;ReadPosRankSum=-0.145;SOR=0.597	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:31,18:49:99:0|1:43206023_C_T:663,0,1248:43206023	4	0	2	1
chr10	48459790	48459790	C	G	exonic	ARHGAP22	.	nonsynonymous SNV	ARHGAP22:NM_001256026:exon3:c.G283C:p.E95Q,ARHGAP22:NM_001347735:exon4:c.G424C:p.E142Q,ARHGAP22:NM_001256024:exon5:c.G601C:p.E201Q,ARHGAP22:NM_001256025:exon5:c.G571C:p.E191Q,ARHGAP22:NM_021226:exon5:c.G553C:p.E185Q,ARHGAP22:NM_001347738:exon6:c.G571C:p.E191Q	.	427	1086	9	0	0	9	0.00412655	.	.	.	752111	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.142	0.00842980633544	0.0006	0.000998403	0.0015	9.639e-05	0.0003	0	0	0.0010	0	0.0062	0.0012678	196	154602	rs141575110	0.0009	0.0009	0.0007	0.0011	0.0060	0.0009	0.0008	0.0056	0.0054	8.961e-05	0.0003	0.0107	2.519e-05	0	0.0009	0.0004	0.0013	0.0060	0.0007	0.0007	0.0006	0.0009	0.0066	0.0006	0.0006	0.0048	0.0042	7.214e-05	0	0.0004	0.0110	0	0	0.0102	0.0004	0.0024	0.0066	0.411	0.28646	T	0.324	0.19480	T	0.592	0.73220	P	0.349	0.67262	B	0.000001	0.62929	D	0.056233	1	0.81001	D	1.435	0.35949	L	2.2	0.18570	T	-1.73	0.41046	N	0.285	0.32591	-1.1231	0.02144	T	0.084	0.32986	T	10	0.0058410764	0.00130	T	0.00843	0.22307	T	0.142	0.37995	.	.	0.238705975628	0.23479	0.45996758904412854	0.45914	0.351601627077	0.36998	0.567807674408	0.48367	T	0.056836	0.30398	T	-0.439707	0.01298	T	-0.402604	0.33081	T	0.0490215323719967	0.05328	T	0.878312	0.59309	D	0.3977095	0.60573	0.15204486	0.35789	0.3977095	0.60574	0.15204486	0.35789	-3.51	0.16572	T	.	.	0.078	0.28835	B	.;.;.;.;.;.	.;.;.;.;.;.	3.560714	0.50099	22.9	0.99586095798452834	0.73336	0.89500	0.50004	D	AEFDBHCIJ	0.709495	0.66356	D	0.105659509635348	0.46726	2.908665	0.195989930216317	0.49625	3.163599	1.0	0.98316	0.743674	0.98306	0	0.615948	0.52940	0	0.659943	0.59835	0	0.584449	0.35598	0	.	.	4.9	4.9	0.63643	2.008000	0.40513	5.846000	0.50293	0.549000	0.26987	0.962000	0.33725	1.000000	0.68203	0.976000	0.56436	0.0:1.0:0.0:0.0	17.242	0.86899	940	0.13648	Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein domain;Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein domain;Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein domain;.;.;Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002518	0.005051	0.001359	0.000000	0.000000	0.000000	0.006098	0.003788	0.07143	406.49	40	chr10	48459790	.	C	G	406.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.165;DP=245;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.03;ReadPosRankSum=-0.77;SOR=0.848	GT:AD:DP:GQ:PL	0/1:26,19:45:99:417,0,638	6	0	1	0
chr10	49612016	49612016	A	G	exonic	SLC18A3	.	nonsynonymous SNV	SLC18A3:NM_003055:exon1:c.A1276G:p.I426V	Myasthenic syndrome, congenital, 21, presynaptic, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	737509	not_provided|SLC18A3-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.418	0.0154850367642	0.0002	0.00139776	0.0006	9.781e-05	8.706e-05	0.0066	0	9.122e-05	0	0.0006	0.0005369	83	154602	rs118107581	0.0005	0.0005	0.0005	0.0005	0.0140	0.0005	0.0004	0.0130	0.0126	5.974e-05	0.0001	0	0.0140	0	0.0003	5.846e-05	0.0003	0.0007	0.0003	0.0003	0.0002	0.0003	0.0052	0.0002	0.0002	0.0037	0.0032	0.0002	0	0.0001	0	0.0052	0	0	5.881e-05	0.0005	0.0004	0.38	0.11191	T	0.779	0.04344	T	0.977	0.58535	D	0.773	0.56974	P	0.000003	0.62929	U	0.059041	1	0.81001	D	0.58	0.15352	N	-1.39	0.80387	T	-0.88	0.23808	N	0.304	0.34336	-0.4506	0.70380	T	0.316	0.68549	T	10	0.013012946	0.00277	T	0.015485	0.36250	T	0.418	0.72780	.	.	0.708386449469	0.70584	0.1755959752554341	0.17478	.	.	0.818039059639	0.84727	D	0.220522	0.58383	T	-0.323961	0.06578	T	-0.235789	0.51209	T	0.0822728689954696	0.10276	T	0.889211	0.62120	D	0.1075223	0.25424	0.121147536	0.29233	0.1075223	0.25423	0.121147536	0.29232	-2.874	0.08886	T	0.2757724791787665	0.37023	0.190	0.40873	B	.	.	4.642279	0.73915	26.1	0.982130852565681	0.39228	0.96335	0.68636	D	AEFDGBCI	0.871742	0.79328	D	0.389166261111909	0.60836	4.276887	0.427257964528688	0.63268	4.557327	0.999994218134128	0.74766	0.59774	0.34471	0	0.563428	0.19063	0	0.503968	0.08637	0	0.63947	0.58350	0	.	.	5.11	3.98	0.45383	7.477000	0.80071	9.324000	0.80071	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.9218:0.0:0.0782:0.0	10.223	0.42386	602	0.67834	Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001008	0.000000	0.000000	0.000000	0.000000	0.000000	0.003067	0.003788	0.07143	930.44	39	chr10	49612016	.	A	G	930.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.341;DP=309;ExcessHet=0;FS=0.741;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.54;ReadPosRankSum=-3.432;SOR=0.569	GT:AD:DP:GQ:PL	0/1:66,43:109:99:941,0,1621	6	0	1	0
chr10	54213995	54213995	G	A	exonic	PCDH15	.	nonsynonymous SNV	PCDH15:NM_001142767:exon9:c.C928T:p.L310F,PCDH15:NM_001142768:exon9:c.C973T:p.L325F,PCDH15:NM_001142773:exon9:c.C973T:p.L325F,PCDH15:NM_001142764:exon10:c.C1039T:p.L347F,PCDH15:NM_001142765:exon10:c.C1039T:p.L347F,PCDH15:NM_001142766:exon10:c.C1039T:p.L347F,PCDH15:NM_001354411:exon10:c.C1039T:p.L347F,PCDH15:NM_001354420:exon10:c.C1039T:p.L347F,PCDH15:NM_001354429:exon10:c.C1039T:p.L347F,PCDH15:NM_001354430:exon10:c.C1039T:p.L347F,PCDH15:NM_001384140:exon10:c.C1039T:p.L347F,PCDH15:NM_033056:exon10:c.C1039T:p.L347F,PCDH15:NM_001142763:exon11:c.C1054T:p.L352F,PCDH15:NM_001354404:exon12:c.C973T:p.L325F	Deafness, autosomal recessive 23, Autosomal recessive;Usher syndrome, type 1D/F digenic, Autosomal recessive, Digenic recessive;Usher syndrome, type 1F, Autosomal recessive	3	1495	24	0	0	24	0.00796284	.	.	.	55599	not_specified|Usher_syndrome_type_1|not_provided|Usher_syndrome_type_1F	MedGen:CN169374|MONDO:MONDO:0010168,MedGen:C1568247,OMIM:276900,Orphanet:231169,Orphanet:886|MedGen:C3661900|MONDO:MONDO:0011186,MedGen:C1865885,OMIM:602083,Orphanet:231169,Orphanet:886	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.254	0.0477581669201	0.0035	0.00119808	0.0036	0.0006	0.0018	0	0.0009	0.0053	0.0033	0.0028	0.0035575	550	154602	rs111033436	0.0041	0.0041	0.0039	0.0042	0.0050	0.0040	0.0039	0.0042	0.0041	0.0007	0.0020	0.0168	0	0.0010	0.0050	0.0043	0.0045	0.0030	0.0032	0.0032	0.0033	0.0030	0.0046	0.0029	0.0028	0.0042	0.0040	0.0008	0.0110	0.0029	0.0161	0	0.0004	0.0034	0.0046	0.0043	0.0027	0.002	0.72154	D	0.0	0.92824	D	0.997	0.90584	D	0.964	0.88582	D	.	.	.	.	1	0.81001	D	2.615	0.76484	M	0.43	0.56772	T	-2.87	0.62518	D	0.807	0.87481	-0.3166	0.74517	T	0.307	0.67740	T	9	0.0059919655	0.00134	T	0.047758	0.63066	D	0.254	0.56428	.	.	0.705405603352	0.70284	0.6460078611123972	0.64535	0.21467462913	0.24008	0.611727297306	0.54561	T	0.124994	0.82072	T	-0.257932	0.13143	T	-0.140943	0.60036	T	0.0103998413265441	0.00143	T	0.944805	0.79334	D	0.4974293	0.66944	0.3812635	0.63140	0.50377804	0.67317	0.36944348	0.62214	-11.315	0.81932	D	0.6398601033422839	0.71041	0.504	0.74312	A	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	4.742781	0.76508	26.5	0.99903023584850525	0.97426	0.94803	0.62383	D	AEFDI	0.849311	0.76613	D	0.798106157721513	0.85986	8.743229	0.752945161623409	0.86377	8.869651	0.499505483150631	0.20930	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	4.99	4.99	0.65942	7.139000	0.76905	9.765000	0.81528	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	18.206	0.89790	894	0.26265	Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;.;Cadherin-like|Cadherin-like;.;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like;Cadherin-like|Cadherin-like;.;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.005035	0.010101	0.001359	0.005848	0.000000	0.000000	0.006098	0.007576	0.1429	710.25	43	chr10	54213995	.	G	A	710.25	.	AC=2;AF=0.143;AN=14;BaseQRankSum=2.12;DP=219;ExcessHet=0.3476;FS=1.968;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=9.86;ReadPosRankSum=-0.423;SOR=0.667	GT:AD:DP:GQ:PL	0/1:14,15:29:99:289,0,287	5	0	2	0
chr10	73323084	73323084	G	A	exonic	CFAP70	.	nonsynonymous SNV	CFAP70:NM_001350934:exon8:c.C425T:p.A142V,CFAP70:NM_001350933:exon9:c.C791T:p.A264V,CFAP70:NM_001367801:exon10:c.C1001T:p.A334V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.0044162599698	.	.	8.293e-06	0	0	0	0	0	0	6.269e-05	6.5e-06	1	154602	rs777869852	6.851e-07	6.84e-07	0	1.377e-06	1.166e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.166e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.318	0.13654	T	0.306	0.19972	T	0.001	0.07471	B	0.001	0.04355	B	0.656899	0.05957	N	1.143820	1	0.28506	N	.	.	.	1.96	0.22270	T	-0.92	0.24676	N	0.101	0.08366	-1.0110	0.26604	T	0.034	0.14726	T	10	0.01594308	0.00335	T	0.004416	0.10781	T	0.009	0.00846	0.237	0.16760	0.0297737177859	0.01360	0.24483438169005461	0.24397	0.297358880734	0.32117	0.301736861467	0.10659	T	0.009737	0.08845	T	-0.398881	0.02355	T	-0.710111	0.05289	T	0.0288257626478234	0.01811	T	0.305069	0.05837	T	0.03883387	0.05250	0.053231195	0.08925	0.03883387	0.05250	0.053231195	0.08925	-5.26	0.39546	T	.	.	0.074	0.05103	B	.	.	0.920976	0.12960	9.466	0.65428300388729943	0.07770	0.05042	0.10828	N	AEFDBHCI	0.042217	0.06523	N	-1.28706635486717	0.03830	0.1718098	-1.24021041461966	0.05278	0.2510757	0.0128041042920385	0.12377	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.81	-3.5	0.04411	-0.459000	0.06805	-0.692000	0.07835	-0.801000	0.03157	0.000000	0.06391	0.000000	0.08366	0.934000	0.47231	0.0:0.3278:0.3296:0.3426	6.164	0.19598	881	0.29269	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	51.83	49	chr10	73323084	.	G	A	51.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.345;DP=264;ExcessHet=0;FS=37.347;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=1.48;ReadPosRankSum=1.27;SOR=5.132	GT:AD:DP:GQ:PL	0/1:23,12:35:62:62,0,380	6	0	1	0
chr10	73916498	73916498	C	T	exonic	PLAU	.	nonsynonymous SNV	PLAU:NM_001145031:exon10:c.C1178T:p.T393M,PLAU:NM_001319191:exon10:c.C971T:p.T324M,PLAU:NM_002658:exon11:c.C1229T:p.T410M	Quebec platelet disorder, Autosomal dominant	1	1519	2	0	0	2	0.000657895	.	.	.	1017314	Quebec_platelet_disorder	MONDO:MONDO:0011136,MedGen:C1866423,OMIM:601709,Orphanet:220436	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.590	0.0639443641028	.	.	8.624e-06	0	0	0	0	1.555e-05	0	0	6.5e-06	1	154602	rs764252595	1.984e-05	2.052e-05	1.089e-05	2.888e-05	0.0003	1.392e-05	1.204e-05	6.117e-05	2.531e-05	0	2.237e-05	3.827e-05	0	0	0.0003	2.158e-05	1.656e-05	0	2.628e-05	2.626e-05	3.853e-05	1.345e-05	4.409e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	2.412e-05	0	0	0	0	0	0	4.409e-05	0	0	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.049308	1	0.81001	D	.	.	.	1.09	0.39223	T	-5.1	0.83027	D	0.786	0.80473	-0.1537	0.78825	T	0.358	0.72006	T	10	0.95317703	0.94663	D	0.063944	0.69124	D	0.590	0.83636	0.86	0.95774	0.798993569784	0.79712	0.9484124517363113	0.94824	0.995633623574	0.74220	0.536884725094	0.44006	T	0.656433	0.89636	D	0.146279	0.68919	D	0.0552081	0.73926	D	0.994951605796814	0.86582	D	0.822518	0.48242	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.422	0.60783	A	.;.	.;.	4.673459	0.74716	26.2	0.9991432340669878	0.98309	0.93993	0.59791	D	AEFDBCI	0.783340	0.71435	D	0.844965083267397	0.88819	9.724216	0.754567954598784	0.86499	8.908443	0.99999999999984	0.74766	0.706298	0.61202	0	0.610034	0.51514	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.62	5.62	0.85714	7.101000	0.76647	7.713000	0.66906	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.721000	0.34804	0.0:1.0:0.0:0.0	17.158	0.86675	394	0.83065	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	584.45	33	chr10	73916498	.	C	T	584.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.43;DP=225;ExcessHet=0;FS=1.069;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.46;ReadPosRankSum=1.04;SOR=0.786	GT:AD:DP:GQ:PL	0/1:25,26:51:99:595,0,496	6	0	1	0
chr10	94132306	94132306	C	T	exonic	PLCE1	.	stopgain	PLCE1:NM_001165979:exon2:c.C415T:p.R139X,PLCE1:NM_001288989:exon3:c.C1339T:p.R447X,PLCE1:NM_016341:exon3:c.C1339T:p.R447X	Nephrotic syndrome, type 3, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	1409601	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	8.281e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs781068774	1.094e-05	1.094e-05	1.361e-05	8.25e-06	1.349e-05	6.48e-06	5.24e-06	8.1e-06	6.42e-06	0	0	3.826e-05	0	0	0	1.349e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.305688	0.14520	N	0.583037	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.817	0.87481	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.614224	0.98017	D	0.66	0.99401	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.;.	High;.;.	8.059080	0.97136	37	0.99828525412940572	0.91026	0.18249	0.20182	N	AEFBI	0.116100	0.22800	N	0.401265679905697	0.61494	4.351086	0.167182190822541	0.48060	3.027099	0.999984653666222	0.51787	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.84	4.84	0.62125	1.220000	0.32095	4.904000	0.45887	0.599000	0.40250	0.047000	0.21291	0.757000	0.26594	0.439000	0.27649	0.1591:0.8409:0.0:0.0	14.195	0.65208	304	0.87780	.;.;.	.	.	.	.	.	Pathogenic	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1250.44	36	chr10	94132306	.	C	T	1250.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.17;DP=306;ExcessHet=0;FS=2.44;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.58;ReadPosRankSum=1.17;SOR=0.796	GT:AD:DP:GQ:PL	0/1:56,52:108:99:1261,0,1274	6	0	1	0
chr10	94720397	94720397	A	-	exonic	CYP2C18	.	frameshift deletion	CYP2C18:NM_001128925:exon5:c.644delA:p.K216Sfs*13,CYP2C18:NM_000772:exon6:c.821delA:p.K275Sfs*13	.	416	1105	1	0	0	1	0.000452284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	.	0.0012	0.0006	0.0005	0	0.0036	0.0015	0.0016	0.0006	0.000718	111	154602	rs772763397	0.0011	0.0012	0.0012	0.0011	0.0011	0.0011	0.0011	0.0011	0.0010	0.0001	0.0004	0.0008	0	0.0042	0.0009	0.0011	0.0018	0.0006	0.0008	0.0008	0.0008	0.0008	0.0011	0.0007	0.0006	0.0009	0.0008	0.0002	0	0.0003	0.0014	0	0.0026	0	0.0011	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001007	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	244.59	25	chr10	94720396	.	GA	G	244.59	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.299;DP=179;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.23;ReadPosRankSum=0.211;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:13,7:20:99:0|1:94720396_GA_G:255,0,525:94720396	6	0	1	0
chr10	94720401	94720401	G	T	exonic	CYP2C18	.	nonsynonymous SNV	CYP2C18:NM_001128925:exon5:c.G648T:p.K216N,CYP2C18:NM_000772:exon6:c.G825T:p.K275N	.	418	1103	1	0	0	1	0.000453104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	0.00252449342534	.	.	0.0010	0.0005	0.0004	0	0.0033	0.0013	0.0013	0.0006	0.0007374	114	154602	rs146257549	0.0012	0.0012	0.0012	0.0011	0.0011	0.0011	0.0011	0.0011	0.0010	0.0001	0.0004	0.0008	0	0.0042	0.0009	0.0011	0.0018	0.0006	0.0008	0.0008	0.0008	0.0008	0.0011	0.0007	0.0006	0.0009	0.0008	0.0002	0	0.0003	0.0014	0	0.0026	0	0.0011	0.0005	0.0002	0.154	0.24277	T	0.101	0.53072	T	0.496	0.37079	P	0.088	0.29688	B	0.000024	0.55875	U	0.067268	1	0.08975	N	1.67	0.42885	L	2.63	0.12884	T	-2.33	0.60188	N	0.267	0.33469	-1.0850	0.06407	T	0.046	0.19800	T	10	0.0081089735	0.00184	T	0.002524	0.05037	T	0.069	0.20116	0.513	0.61153	0.395289904662	0.39143	0.15657930588643143	0.15578	0.0169805560263	0.01642	.	.	.	0.221726	0.58537	T	-0.642375	0.00081	T	-0.745944	0.03646	T	0.0463150292634964	0.04841	T	0.806219	0.45479	T	0.12837441	0.30013	0.12015137	0.28998	0.12837441	0.30013	0.12015137	0.28997	-9.294	0.69570	D	.	.	0.242	0.47632	B	.;.	.;.	0.217476	0.06002	2.443	0.96592215551337524	0.30373	0.08104	0.14073	N	AEFI	0.447038	0.50284	N	-0.683846558632721	0.16482	0.840128	-0.873804220344879	0.12716	0.6557493	5.15279857181578E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	4.2	-3.12	0.04959	-0.431000	0.07034	-6.558000	0.01366	-0.197000	0.09056	0.000000	0.06391	0.000000	0.08366	0.931000	0.46843	0.1719:0.3009:0.5272:0.0	6.830	0.23085	535	0.73288	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	241.63	31	chr10	94720401	.	G	T	241.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.134;DP=194;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.51;ReadPosRankSum=0.822;SOR=0.892	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:14,7:21:99:0|1:94720396_GA_G:252,0,546:94720396	6	0	1	0
chr10	102157434	102157434	T	A	exonic	NOLC1	.	nonsynonymous SNV	NOLC1:NM_001284388:exon4:c.T320A:p.V107E,NOLC1:NM_001284389:exon4:c.T323A:p.V108E,NOLC1:NM_004741:exon4:c.T320A:p.V107E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	0.0190273949495	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.667	0.06386	T	0.148	0.30614	B	0.102	0.37138	B	0.684655	0.10228	N	0.843457	1	0.08975	N	2.175	0.60977	M	0.93	0.44065	T	-0.64	0.18670	N	0.284	0.32921	-0.9372	0.43057	T	0.096	0.36055	T	10	0.07551378	0.11681	T	0.019027	0.41279	T	0.053	0.14996	0.204	0.11936	0.352048277211	0.34822	0.14169985463020598	0.14092	0.16726596523	0.18862	0.340351939201	0.16491	T	0.041303	0.25814	T	-0.167854	0.25559	T	-0.478887	0.24565	T	0.259626686573029	0.23298	T	0.611639	0.24490	T	0.3308217	0.55538	0.15957409	0.37209	0.3308217	0.55538	0.15957409	0.37208	-8.456	0.64137	D	.	.	0.161	0.41511	B	.;.;.	.;.;.	2.160274	0.27519	17.49	0.70022938320465145	0.09160	0.25807	0.22809	N	AEFDBHCI	0.164555	0.29096	N	-0.790595280263692	0.13555	0.6685545	-0.844151915784803	0.13428	0.6965356	0.99991679383662	0.45857	0.722319	0.85440	0	0.698795	0.70079	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.92	-0.0138	0.13307	0.067000	0.14378	1.194000	0.24787	-0.124000	0.13482	0.000000	0.06391	0.004000	0.18990	0.420000	0.27228	0.1576:0.2808:0.0:0.5616	3.792	0.08243	645	0.63593	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	783.44	34	chr10	102157434	.	T	A	783.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.723;DP=237;ExcessHet=0;FS=0.975;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.84;ReadPosRankSum=-0.224;SOR=0.518	GT:AD:DP:GQ:PL	0/1:29,32:61:99:794,0,706	6	0	1	0
chr10	106577555	106577555	C	A	exonic	SORCS1	.	nonsynonymous SNV	SORCS1:NM_052918:exon26:c.G3372T:p.R1124S,SORCS1:NM_001206572:exon27:c.G3533T:p.G1178V	.	.	.	.	.	.	.	.	0.9925	0.872	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.166	.	.	.	9.928e-05	0	0	0	0	0	0	0.0007	7.76e-05	12	154602	rs751226840	3.292e-05	3.557e-05	1.638e-05	4.962e-05	0.0005	2.55e-05	2.254e-05	0.0004	0.0004	0	0	0	0	0	0	0	1.664e-05	0.0005	1.314e-05	1.313e-05	2.571e-05	0	0.0004	2.18e-06	8.2e-07	7.304e-05	3.034e-05	0	0	0	0	0	0	0	0	0	0.0004	0.022	0.48642	D	0.088	0.40586	T	0.952	0.54136	P	0.562	0.49608	P	.	.	.	.	0.999999	0.81001	D	0.55	0.14455	N	1.55	0.29866	T	-5.31	0.84457	D	0.751	0.75009	-1.1113	0.02960	T	0.091	0.34901	T	8	0.14162964	0.26908	T	0.029903	0.52327	D	0.166	0.42578	0.516	0.61611	0.082315109003	0.07666	0.7652592908143097	0.76474	.	.	.	.	.	0.658582	0.89726	D	-0.397368	0.02409	T	-0.440975	0.28699	T	0.226270214044756	0.21772	T	0.727827	0.34232	T	0.6128197	0.73379	0.53007716	0.72848	0.6128197	0.73380	0.53007716	0.72848	-6.568	0.50808	T	.	.	0.669	0.71693	P	.;.	.;.	5.715315	0.93194	33	0.99679879222339807	0.79174	0.14802	0.18593	N	ALL	0.428941	0.49226	N	0.418932320465736	0.62463	4.462672	0.458814849078937	0.65284	4.804516	0.999999999992464	0.74766	0.500041	0.20204	0	0.624306	0.53593	0	0.459711	0.06710	0	0.564101	0.26826	0	.	.	5.52	4.56	0.55644	2.277000	0.43076	4.827000	0.45167	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.1523:0.8477:0.0:0.0	13.839	0.62921	784	0.47045	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	263.63	53	chr10	106577555	.	C	A	263.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-3.313;DP=253;ExcessHet=0;FS=1.828;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.55;ReadPosRankSum=0.657;SOR=0.25	GT:AD:DP:GQ:PL	0/1:14,11:25:99:274,0,468	6	0	1	0
chr10	124989543	124989543	T	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon9:c.A1517G:p.N506S,CTBP2:NM_022802:exon9:c.A2933G:p.N978S,CTBP2:NM_001321013:exon10:c.A1313G:p.N438S,CTBP2:NM_001083914:exon11:c.A1313G:p.N438S,CTBP2:NM_001290214:exon11:c.A1313G:p.N438S,CTBP2:NM_001290215:exon11:c.A1313G:p.N438S,CTBP2:NM_001321012:exon11:c.A1313G:p.N438S,CTBP2:NM_001321014:exon11:c.A1313G:p.N438S,CTBP2:NM_001329:exon11:c.A1313G:p.N438S	.	430	785	300	7	0	314	0.166667	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.362	0.0412206901109	.	.	.	.	.	.	.	.	.	.	0.0011526	30	26028	rs75839774	4.107e-06	4.104e-06	5.449e-06	2.752e-06	4.497e-06	1.48e-06	9.7e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.497e-06	1.658e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.61437	D	0.553	0.32461	T	0.017	0.35330	B	0.044	0.44683	B	0.040786	0.24019	N	0.433304	0.546531	0.31369	N	1.1	0.28011	L	-1.58	0.82806	D	-0.98	0.25986	N	0.097	0.39153	-0.2662	0.75916	T	0.330	0.69766	T	10	0.12751639	0.24250	T	0.041221	0.59806	D	0.362	0.68230	0.075	0.00517	0.760080849401	0.75790	0.26369227103169535	0.26282	1.68067603589	0.89969	0.448414385319	0.31727	T	0.157679	0.50038	T	0.0363132	0.56560	T	-0.185615	0.55999	T	0.436808287713247	0.30312	T	0.90311	0.67973	D	0.08655811	0.20123	0.08484771	0.19547	0.08655811	0.20122	0.08484771	0.19547	-2.304	0.04577	T	.	.	0.070	0.03588	B	.;.;.;.;.;.	.;.;.;.;.;.	2.477890	0.31950	18.89	0.9913628706847909	0.53410	0.86806	0.46168	D	AEFDGBCI	0.540087	0.55679	D	-0.275999058280499	0.30077	1.67381	-0.0903501737703044	0.35788	2.074695	0.999999280419097	0.74766	0.722319	0.85440	0	0.00446	0.00028	3	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.12	3.98	0.45383	2.629000	0.46152	0.448000	0.18493	0.665000	0.62972	1.000000	0.71638	0.999000	0.35428	1.000000	0.97212	0.0:0.0728:0.0:0.9272	11.061	0.47165	940	0.13648	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4286	5111.58	74	chr10	124989543	.	T	C	5111.58	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-2.47;DP=632;ExcessHet=8.2628;FS=5.084;MLEAC=6;MLEAF=0.429;MQ=49.7;MQRankSum=-8.248;QD=8.28;ReadPosRankSum=0.054;SOR=0.385	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:37,13:50:99:0|1:124989533_G_A:399,0,1476:124989533	1	0	6	0
chr10	124989565	124989565	G	-	exonic	CTBP2	.	frameshift deletion	CTBP2:NM_001363508:exon9:c.1495delC:p.Q499Sfs*36,CTBP2:NM_022802:exon9:c.2911delC:p.Q971Sfs*36,CTBP2:NM_001321013:exon10:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001083914:exon11:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001290214:exon11:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001290215:exon11:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001321012:exon11:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001321014:exon11:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001329:exon11:c.1291delC:p.Q431Sfs*36	.	440	850	230	2	0	234	0.120993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs146097043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	1928.55	63	chr10	124989564	.	TG	T	1928.55	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-3.034;DP=665;ExcessHet=8.2628;FS=4.831;MLEAC=6;MLEAF=0.429;MQ=51.84;MQRankSum=-7.441;QD=3.07;ReadPosRankSum=-2.098;SOR=0.329	GT:AD:DP:GQ:PL	0/1:36,12:48:99:279,0,1199	1	0	6	0
chr10	124994489	124994489	T	G	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.A964C:p.N322H,CTBP2:NM_022802:exon5:c.A2380C:p.N794H,CTBP2:NM_001321013:exon6:c.A760C:p.N254H,CTBP2:NM_001083914:exon7:c.A760C:p.N254H,CTBP2:NM_001290214:exon7:c.A760C:p.N254H,CTBP2:NM_001290215:exon7:c.A760C:p.N254H,CTBP2:NM_001321012:exon7:c.A760C:p.N254H,CTBP2:NM_001321014:exon7:c.A760C:p.N254H,CTBP2:NM_001329:exon7:c.A760C:p.N254H	.	425	876	218	3	0	224	0.11336	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.855	0.287995004976	.	.	.	.	.	.	.	.	.	.	.	.	.	rs913075834	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.53900	D	0.014	0.69154	D	1.0	0.90584	D	0.995	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.03	0.86425	M	-1.64	0.82533	D	-4.7	0.80510	D	0.955	0.96416	0.598	0.91868	D	0.722	0.90485	D	10	0.93609107	0.92939	D	0.287995	0.90464	D	0.855	0.95544	0.749	0.87988	0.908261012674	0.90733	0.9221523146368497	0.92192	2.0305426451	0.94091	0.826209723949	0.85982	D	0.743281	0.92907	D	0.230793	0.76796	D	0.0937411	0.76494	D	0.996190285808554	0.88852	D	0.970303	0.89317	D	0.91641486	0.92901	0.8315015	0.90282	0.91641486	0.92902	0.8315015	0.90283	-11.706	0.83405	D	.	.	0.818	0.83534	P	.;.;.;.;.;.	.;.;.;.;.;.	4.739043	0.76411	26.5	0.99694374199735813	0.80180	0.94484	0.61314	D	AEFDGBCI	0.936668	0.93334	D	0.798915340390827	0.86037	8.759083	0.761626191030682	0.87022	9.081087	0.999999999999979	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.36	5.36	0.76624	7.674000	0.83146	7.884000	0.72673	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.357	0.74148	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	3134.26	98	chr10	124994489	.	T	G	3134.26	.	AC=6;AF=0.5;AN=12;BaseQRankSum=1.89;DP=858;ExcessHet=8.2628;FS=29.968;MLEAC=6;MLEAF=0.5;MQ=58.08;MQRankSum=-6.558;QD=3.87;ReadPosRankSum=-4.084;SOR=3.095	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:61,11:72:99:0|1:124994489_T_G:278,0,2528:124994489	0	0	6	1
chr10	124994501	124994501	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.C952T:p.H318Y,CTBP2:NM_022802:exon5:c.C2368T:p.H790Y,CTBP2:NM_001321013:exon6:c.C748T:p.H250Y,CTBP2:NM_001083914:exon7:c.C748T:p.H250Y,CTBP2:NM_001290214:exon7:c.C748T:p.H250Y,CTBP2:NM_001290215:exon7:c.C748T:p.H250Y,CTBP2:NM_001321012:exon7:c.C748T:p.H250Y,CTBP2:NM_001321014:exon7:c.C748T:p.H250Y,CTBP2:NM_001329:exon7:c.C748T:p.H250Y	.	426	821	272	3	0	278	0.144792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.771	0.0948171006631	.	.	.	.	.	.	.	.	.	.	.	.	.	rs978705792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.42487	T	0.297	0.31125	T	0.868	0.47740	P	0.617	0.54186	P	0.000000	0.84330	D	0.000000	1	0.81001	D	0.11	0.08516	N	-1.36	0.80125	T	-5.44	0.85541	D	0.915	0.92084	-0.1289	0.79427	T	0.435	0.77536	T	10	0.7908057	0.78643	D	0.094817	0.76319	D	0.771	0.92294	0.486	0.56939	0.919217431084	0.91840	0.9252807218489828	0.92505	1.25117579951	0.81802	0.887714266777	0.94973	D	0.545829	0.84532	D	0.352326	0.86659	D	0.268315	0.86483	D	0.94890558719635	0.62996	D	0.972303	0.89961	D	0.826035	0.85629	0.7361207	0.84404	0.826035	0.85631	0.7361207	0.84405	-9.649	0.71784	D	.	.	0.781	0.76420	P	.;.;.;.;.;.	.;.;.;.;.;.	4.665783	0.74522	26.2	0.99760421591352766	0.85011	0.95027	0.63172	D	AEFDGBCI	0.931287	0.91988	D	0.465501566800638	0.65087	4.778689	0.565123419115292	0.72454	5.812716	1.0	0.98316	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.21	5.21	0.72005	7.771000	0.84203	11.823000	0.97298	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.767	0.91839	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	3924.26	101	chr10	124994501	.	G	A	3924.26	.	AC=6;AF=0.5;AN=12;BaseQRankSum=0.105;DP=905;ExcessHet=8.2628;FS=37.587;MLEAC=6;MLEAF=0.5;MQ=57.54;MQRankSum=-6.141;QD=4.68;ReadPosRankSum=-2.339;SOR=3.323	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:67,14:81:99:0|1:124994489_T_G:366,0,2771:124994489	0	0	6	1
chr10	124994505	124994505	A	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.T948A:p.H316Q,CTBP2:NM_022802:exon5:c.T2364A:p.H788Q,CTBP2:NM_001321013:exon6:c.T744A:p.H248Q,CTBP2:NM_001083914:exon7:c.T744A:p.H248Q,CTBP2:NM_001290214:exon7:c.T744A:p.H248Q,CTBP2:NM_001290215:exon7:c.T744A:p.H248Q,CTBP2:NM_001321012:exon7:c.T744A:p.H248Q,CTBP2:NM_001321014:exon7:c.T744A:p.H248Q,CTBP2:NM_001329:exon7:c.T744A:p.H248Q	.	423	816	278	5	0	288	0.15	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.476	0.0731369313184	.	.	.	.	.	.	.	.	.	.	.	.	.	rs937366751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	0.46513	D	0.259	0.44702	T	0.682	0.41464	P	0.219	0.43945	B	0.000000	0.84330	D	0.000000	0.999904	0.50806	D	-0.715	0.01801	N	-1.26	0.79176	T	-6.79	0.93135	D	0.687	0.70000	-0.8006	0.55109	T	0.184	0.53255	T	10	0.5356107	0.63429	D	0.073137	0.71713	D	0.476	0.76816	0.447	0.50629	0.947376611969	0.94682	0.8013614072212495	0.80090	0.902566627065	0.70693	0.888023793697	0.95012	D	0.559992	0.85254	D	0.155552	0.69787	D	-0.0143363	0.69401	D	0.887895047664642	0.53844	D	0.743426	0.36288	T	0.90044665	0.91423	0.7164848	0.83265	0.90044665	0.91424	0.7164848	0.83266	-12.552	0.89160	D	.	.	0.886	0.85521	P	.;.;.;.;.;.	.;.;.;.;.;.	3.763339	0.54010	23.4	0.97895156658106663	0.36704	0.72838	0.35639	D	AEFDGBCI	0.464485	0.51296	N	-0.261912955812249	0.30631	1.70973	-0.146100228405978	0.33558	1.920874	0.999999244525417	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.21	1.37	0.21200	1.883000	0.39293	2.678000	0.33996	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.5559:0.0:0.4441:0.0	8.31	0.31226	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	4089.26	106	chr10	124994505	.	A	T	4089.26	.	AC=6;AF=0.5;AN=12;BaseQRankSum=2.53;DP=948;ExcessHet=11.5949;FS=40.326;MLEAC=6;MLEAF=0.5;MQ=57.33;MQRankSum=-6.081;QD=4.77;ReadPosRankSum=-1.376;SOR=3.44	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:69,14:83:99:0|1:124994489_T_G:360,0,2815:124994489	0	0	6	1
chr10	124994530	124994530	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.C923T:p.S308F,CTBP2:NM_022802:exon5:c.C2339T:p.S780F,CTBP2:NM_001321013:exon6:c.C719T:p.S240F,CTBP2:NM_001083914:exon7:c.C719T:p.S240F,CTBP2:NM_001290214:exon7:c.C719T:p.S240F,CTBP2:NM_001290215:exon7:c.C719T:p.S240F,CTBP2:NM_001321012:exon7:c.C719T:p.S240F,CTBP2:NM_001321014:exon7:c.C719T:p.S240F,CTBP2:NM_001329:exon7:c.C719T:p.S240F	.	421	688	403	10	0	423	0.235131	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.938	0.47632593724	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs374871777	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.59928	D	0.001	0.83351	D	1.0	0.90584	D	0.993	0.83170	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.465	0.71551	M	-1.61	0.82254	D	-5.08	0.82896	D	0.976	0.98657	0.694	0.93099	D	0.759	0.91795	D	10	0.9291788	0.92260	D	0.476326	0.94766	D	0.938	0.98636	0.718	0.85319	0.963037453765	0.96263	0.9856555258906051	0.98558	2.08621322631	0.94675	0.860175311565	0.91136	D	0.733508	0.92560	D	0.422049	0.91127	D	0.368468	0.91016	D	0.994980752468109	0.86633	D	0.836416	0.50788	T	0.98504084	0.99469	0.92532665	0.96770	0.98504084	0.99469	0.92532665	0.96771	-14.995	0.96879	D	.	.	0.993	0.95154	P	.;.;.;.;.;.	.;.;.;.;.;.	5.187974	0.87005	29.1	0.99852028210273314	0.93102	0.95134	0.63563	D	AEFDGBCI	0.931287	0.91988	D	0.925236055449727	0.92941	11.72177	0.873600535312142	0.94317	12.66702	1.0	0.98316	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.21	5.21	0.72005	9.602000	0.97623	11.823000	0.97298	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	18.767	0.91839	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	5877.14	117	chr10	124994530	.	G	A	5877.14	.	AC=7;AF=0.5;AN=14;BaseQRankSum=0.226;DP=1014;ExcessHet=14.2834;FS=51.694;MLEAC=7;MLEAF=0.5;MQ=56.88;MQRankSum=-5.524;QD=6.41;ReadPosRankSum=1.14;SOR=3.874	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:65,17:82:99:0|1:124994523_G_A:449,0,2638:124994523	0	0	7	0
chr10	124994542	124994542	C	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.G911A:p.S304N,CTBP2:NM_022802:exon5:c.G2327A:p.S776N,CTBP2:NM_001321013:exon6:c.G707A:p.S236N,CTBP2:NM_001083914:exon7:c.G707A:p.S236N,CTBP2:NM_001290214:exon7:c.G707A:p.S236N,CTBP2:NM_001290215:exon7:c.G707A:p.S236N,CTBP2:NM_001321012:exon7:c.G707A:p.S236N,CTBP2:NM_001321014:exon7:c.G707A:p.S236N,CTBP2:NM_001329:exon7:c.G707A:p.S236N	.	418	797	293	14	0	321	0.167624	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.881	0.520636706354	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs78155918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.004	0.79402	D	0.994	0.66517	D	0.972	0.72692	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.19	0.88972	M	-1.86	0.84341	D	-2.9	0.61580	D	0.951	0.95956	0.923	0.96008	D	0.835	0.94461	D	10	0.96767014	0.96284	D	0.520637	0.95441	D	0.881	0.96502	0.859	0.95718	0.8508886717	0.84945	0.9945051231415541	0.99447	1.72531923595	0.90642	0.895219087601	0.95893	D	0.849948	0.96576	D	0.195726	0.73494	D	0.04337	0.73148	D	0.993175552752073	0.83871	D	0.98969	0.96662	D	0.9860643	0.99535	0.9414922	0.97865	0.9860643	0.99535	0.9414922	0.97866	-14.163	0.96648	D	.	.	0.990	0.93538	P	.;.;.;.;.;.	.;.;.;.;.;.	4.768549	0.77163	26.6	0.99793032458852304	0.87839	0.92617	0.56134	D	AEFDGBCI	0.921115	0.89410	D	0.951529578297244	0.94047	12.46209	0.869409228877299	0.94098	12.50256	1.0	0.98316	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.21	5.21	0.72005	7.568000	0.81546	7.667000	0.64568	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:1.0:0.0:0.0	18.767	0.91839	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	3259.14	118	chr10	124994542	.	C	T	3259.14	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-1.257;DP=1044;ExcessHet=14.2834;FS=75.76;MLEAC=7;MLEAF=0.5;MQ=56.81;MQRankSum=-5.466;QD=3.6;ReadPosRankSum=2.25;SOR=4.636	GT:AD:DP:GQ:PL	0/1:62,14:76:99:165,0,1646	0	0	7	0
chr10	124994563	124994563	A	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.T890A:p.L297Q,CTBP2:NM_022802:exon5:c.T2306A:p.L769Q,CTBP2:NM_001321013:exon6:c.T686A:p.L229Q,CTBP2:NM_001083914:exon7:c.T686A:p.L229Q,CTBP2:NM_001290214:exon7:c.T686A:p.L229Q,CTBP2:NM_001290215:exon7:c.T686A:p.L229Q,CTBP2:NM_001321012:exon7:c.T686A:p.L229Q,CTBP2:NM_001321014:exon7:c.T686A:p.L229Q,CTBP2:NM_001329:exon7:c.T686A:p.L229Q	.	408	769	327	18	0	363	0.190952	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.960	0.547155886187	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs150320719	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.017	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	2.835	0.82492	M	-1.85	0.84267	D	-5.78	0.88699	D	0.932	0.93841	0.754	0.93845	D	0.782	0.92582	D	10	0.9727028	0.96922	D	0.547156	0.95809	D	0.960	0.99376	0.857	0.95604	0.951774941741	0.95126	0.9701566259621512	0.97004	2.04308220201	0.94282	0.848910570145	0.89450	D	0.853663	0.96692	D	0.45783	0.92829	D	0.419864	0.92740	D	0.999412894248962	0.97310	D	0.830117	0.49576	T	0.9576254	0.97040	0.9405844	0.97806	0.9576254	0.97041	0.9405844	0.97806	-13.719	0.92108	D	.	.	0.992	0.94272	P	.;.;.;.;.;.	.;.;.;.;.;.	5.061375	0.84364	28.3	0.99631799569558666	0.76081	0.94544	0.61510	D	AEFDGBCI	0.948042	0.95924	D	0.879361810884359	0.90712	10.53043	0.831570877214738	0.91895	11.12529	0.999999999999983	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.42	5.42	0.78666	8.947000	0.92735	11.208000	0.89295	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.466	0.75135	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	3339.14	115	chr10	124994563	.	A	T	3339.14	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-1.931;DP=1058;ExcessHet=14.2834;FS=82.34;MLEAC=7;MLEAF=0.5;MQ=56.58;MQRankSum=-5.915;QD=3.6;ReadPosRankSum=2.9;SOR=4.841	GT:AD:DP:GQ:PL	0/1:70,16:86:99:122,0,1976	0	0	7	0
chr10	124994577	124994577	C	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.G876T:p.Q292H,CTBP2:NM_022802:exon5:c.G2292T:p.Q764H,CTBP2:NM_001321013:exon6:c.G672T:p.Q224H,CTBP2:NM_001083914:exon7:c.G672T:p.Q224H,CTBP2:NM_001290214:exon7:c.G672T:p.Q224H,CTBP2:NM_001290215:exon7:c.G672T:p.Q224H,CTBP2:NM_001321012:exon7:c.G672T:p.Q224H,CTBP2:NM_001321014:exon7:c.G672T:p.Q224H,CTBP2:NM_001329:exon7:c.G672T:p.Q224H	.	408	580	516	18	0	552	0.32243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.696	0.0892909269972	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs80025996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.63226	D	0.087	0.69154	T	0.964	0.68779	D	0.898	0.69447	P	0.000000	0.84330	D	0.000000	0.999957	0.58761	D	0.49	0.13296	N	-1.71	0.83815	D	-3.39	0.66896	D	0.743	0.76111	0.130	0.84714	D	0.526	0.82375	D	10	0.69303375	0.71973	D	0.089291	0.75298	D	0.696	0.89007	0.404	0.43573	0.949204094444	0.94866	0.8408413105034186	0.84044	1.71814521226	0.90529	0.835075438023	0.87341	D	0.524087	0.83410	D	0.323687	0.84732	D	0.227177	0.84532	D	0.984627544879913	0.75871	D	0.969203	0.88895	D	0.8669297	0.88620	0.72212815	0.83591	0.8669297	0.88622	0.72212815	0.83592	-9.982	0.77738	D	.	.	0.579	0.68002	P	.;.;.;.;.;.	.;.;.;.;.;.	4.008335	0.59116	24.1	0.99735057696966967	0.83047	0.87870	0.47561	D	AEFDGBCI	0.735142	0.68105	D	0.394708730247093	0.61135	4.310599	0.421330055103997	0.62895	4.513037	0.999999999997443	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.42	4.51	0.54589	3.891000	0.55940	4.055000	0.41540	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.9224:0.0:0.0776	13.270	0.59589	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	8046.14	115	chr10	124994577	.	C	A	8046.14	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-3.628;DP=1069;ExcessHet=14.2834;FS=72.991;MLEAC=7;MLEAF=0.5;MQ=56.56;MQRankSum=-5.892;QD=8.45;ReadPosRankSum=2.39;SOR=4.387	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:79,20:99:99:0|1:124994577_C_A:542,0,3172:124994577	0	0	7	0
chr10	124998077	124998077	C	G	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.G656C:p.W219S,CTBP2:NM_022802:exon4:c.G2072C:p.W691S,CTBP2:NM_001321013:exon5:c.G452C:p.W151S,CTBP2:NM_001083914:exon6:c.G452C:p.W151S,CTBP2:NM_001290214:exon6:c.G452C:p.W151S,CTBP2:NM_001290215:exon6:c.G452C:p.W151S,CTBP2:NM_001321012:exon6:c.G452C:p.W151S,CTBP2:NM_001321014:exon6:c.G452C:p.W151S,CTBP2:NM_001329:exon6:c.G452C:p.W151S	.	411	908	195	8	0	211	0.104095	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.729	0.132665301415	.	.	.	.	.	.	.	.	.	.	.	.	.	rs921417861	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.49613	D	0.251	0.48855	T	0.932	0.67487	P	0.903	0.72692	P	0.000000	0.84330	D	0.000000	1	0.81001	D	0.73	0.18813	N	-1.24	0.78967	T	-13.16	0.99944	D	0.816	0.82660	0.015	0.82548	D	0.436	0.77612	T	10	0.8384273	0.82996	D	0.132665	0.81500	D	0.729	0.90501	0.42	0.46200	0.916186859433	0.91534	0.939893042578689	0.93970	2.15981024662	0.95367	0.902819037437	0.96746	D	0.566519	0.85577	D	0.361391	0.87361	D	0.281337	0.87198	D	0.999315857887268	0.96929	D	0.787421	0.42665	T	0.9529722	0.96568	0.9167839	0.96171	0.9529722	0.96569	0.9167839	0.96171	-13.048	0.91030	D	.	.	0.987	0.92737	P	.;.;.;.;.;.	.;.;.;.;.;.	5.895887	0.93981	33	0.99155191442297097	0.53931	0.92847	0.56691	D	AEFDGBCI	0.944592	0.95186	D	0.526305507094081	0.68652	5.246556	0.569067646848623	0.72734	5.856765	0.999999999999998	0.74766	0.67177	0.52595	0	0.550933	0.16991	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.73	4.73	0.59485	7.565000	0.81337	5.908000	0.50981	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.965000	0.52897	0.0:1.0:0.0:0.0	18.072	0.89338	928	0.17405	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4	1686.69	135	chr10	124998077	.	C	G	1686.69	.	AC=4;AF=0.4;AN=10;BaseQRankSum=-1.418;DP=938;ExcessHet=2.5225;FS=11.627;MLEAC=5;MLEAF=0.5;MQ=57.98;MQRankSum=-7.482;QD=3.68;ReadPosRankSum=1.65;SOR=1.614	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:73,21:94:99:0|1:124998077_C_G:662,0,2920:124998077	1	0	4	2
chr10	124998080	124998080	G	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.C653G:p.T218R,CTBP2:NM_022802:exon4:c.C2069G:p.T690R,CTBP2:NM_001321013:exon5:c.C449G:p.T150R,CTBP2:NM_001083914:exon6:c.C449G:p.T150R,CTBP2:NM_001290214:exon6:c.C449G:p.T150R,CTBP2:NM_001290215:exon6:c.C449G:p.T150R,CTBP2:NM_001321012:exon6:c.C449G:p.T150R,CTBP2:NM_001321014:exon6:c.C449G:p.T150R,CTBP2:NM_001329:exon6:c.C449G:p.T150R	.	411	907	195	9	0	213	0.105081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.679	0.0475041477189	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.297	0.53900	T	0.336	0.34124	T	0.999	0.90584	D	0.989	0.81110	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.54	0.13725	N	-1.31	0.79666	T	-3.5	0.68298	D	0.928	0.95139	0.036	0.82969	D	0.482	0.80205	T	10	0.8320574	0.82367	D	0.047504	0.62952	D	0.679	0.88205	0.598	0.72862	0.765312620283	0.76316	0.9505245979181556	0.95036	2.12633044952	0.95074	0.794296979904	0.81096	T	0.503085	0.82273	D	0.222721	0.76033	D	0.0821472	0.75720	D	0.938564615564625	0.60928	D	0.79772	0.44184	T	0.9565074	0.96926	0.8445915	0.91143	0.9565074	0.96926	0.8445915	0.91143	-16.429	0.98336	D	.	.	0.949	0.86814	P	.;.;.;.;.;.	.;.;.;.;.;.	5.668071	0.92919	33	0.99401680195169373	0.62841	0.95078	0.63357	D	AEFDGBCI	0.948544	0.96027	D	0.585474125636482	0.72268	5.778968	0.626633119523619	0.76879	6.573287	0.999999999999998	0.74766	0.67177	0.52595	0	0.550933	0.16991	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.73	4.73	0.59485	9.597000	0.97445	8.536000	0.77474	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.972000	0.54974	0.0:0.0:1.0:0.0	18.072	0.89338	928	0.17405	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4	1689.69	130	chr10	124998080	.	G	C	1689.69	.	AC=4;AF=0.4;AN=10;BaseQRankSum=-0.126;DP=923;ExcessHet=2.5225;FS=10.025;MLEAC=5;MLEAF=0.5;MQ=57.97;MQRankSum=-7.482;QD=3.7;ReadPosRankSum=1.65;SOR=1.589	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:73,21:94:99:0|1:124998077_C_G:662,0,2982:124998077	1	0	4	2
chr10	124998087	124998087	T	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.A646G:p.R216G,CTBP2:NM_022802:exon4:c.A2062G:p.R688G,CTBP2:NM_001321013:exon5:c.A442G:p.R148G,CTBP2:NM_001083914:exon6:c.A442G:p.R148G,CTBP2:NM_001290214:exon6:c.A442G:p.R148G,CTBP2:NM_001290215:exon6:c.A442G:p.R148G,CTBP2:NM_001321012:exon6:c.A442G:p.R148G,CTBP2:NM_001321014:exon6:c.A442G:p.R148G,CTBP2:NM_001329:exon6:c.A442G:p.R148G	.	414	922	177	9	0	195	0.0956351	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.592	0.187163960256	.	.	.	.	.	.	.	.	.	.	.	.	.	rs914098337	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.46513	T	0.114	0.50226	T	0.889	0.56408	P	0.532	0.59825	P	0.000000	0.84330	D	0.000000	0.999931	0.51612	D	1.53	0.38800	L	-1.44	0.80815	T	-6.41	0.91868	D	0.945	0.95491	-0.1393	0.79182	T	0.443	0.78033	T	10	0.8510742	0.84286	D	0.187164	0.85921	D	0.592	0.83747	0.59	0.71874	0.975786130339	0.97552	0.9668684472081748	0.96674	1.31579442616	0.83326	0.803737461567	0.82533	D	0.582432	0.86347	D	0.299844	0.82957	D	0.192928	0.82736	D	0.96776270866394	0.68017	D	0.831417	0.49863	T	0.8377413	0.86447	0.72207403	0.83588	0.8377413	0.86448	0.72207403	0.83589	-13.47	0.92423	D	.	.	0.990	0.93663	P	.;.;.;.;.;.	.;.;.;.;.;.	3.151647	0.42666	21.6	0.99467938748563089	0.66154	0.20835	0.21186	N	AEFDGBCI	0.404313	0.47765	N	-0.449297695031707	0.23763	1.278434	-0.489554569803757	0.22440	1.218867	0.999987001428746	0.51787	0.67177	0.52595	0	0.550933	0.16991	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.73	0.468	0.15943	-0.037000	0.12116	0.229000	0.16167	-0.876000	0.02500	0.022000	0.19841	0.016000	0.20520	0.945000	0.48827	0.0:0.0:0.2754:0.7246	17.140	0.86628	928	0.17405	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4	1665.69	125	chr10	124998087	.	T	C	1665.69	.	AC=4;AF=0.4;AN=10;BaseQRankSum=-0.215;DP=923;ExcessHet=2.5225;FS=10.025;MLEAC=5;MLEAF=0.5;MQ=58;MQRankSum=-7.618;QD=3.58;ReadPosRankSum=2.67;SOR=1.609	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:76,21:97:99:0|1:124998077_C_G:653,0,3128:124998077	1	0	4	2
chr10	124998090	124998090	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.C643T:p.R215W,CTBP2:NM_022802:exon4:c.C2059T:p.R687W,CTBP2:NM_001321013:exon5:c.C439T:p.R147W,CTBP2:NM_001083914:exon6:c.C439T:p.R147W,CTBP2:NM_001290214:exon6:c.C439T:p.R147W,CTBP2:NM_001290215:exon6:c.C439T:p.R147W,CTBP2:NM_001321012:exon6:c.C439T:p.R147W,CTBP2:NM_001321014:exon6:c.C439T:p.R147W,CTBP2:NM_001329:exon6:c.C439T:p.R147W	.	413	929	171	9	0	189	0.0923302	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.874	0.341150234986	.	.	.	.	.	.	.	.	.	.	.	.	.	rs945665113	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.59928	D	0.005	0.74150	D	1.0	0.90584	D	0.994	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.78	0.95251	H	-2.1	0.86146	D	-7.06	0.95511	D	0.966	0.98840	0.927	0.96063	D	0.842	0.94722	D	10	0.9513125	0.94468	D	0.34115	0.92018	D	0.874	0.96243	0.801	0.92017	0.936821863726	0.93617	0.9793425394167631	0.97925	2.04020034352	0.94242	0.869401991367	0.92483	D	0.888608	0.97719	D	0.413835	0.90693	D	0.356669	0.90576	D	0.995111286640167	0.86855	D	0.922308	0.71764	D	0.9076591	0.92078	0.81096756	0.88961	0.9076591	0.92079	0.81096756	0.88962	-12.412	0.89971	D	.	.	0.994	0.94938	P	.;.;.;.;.;.	.;.;.;.;.;.	5.386720	0.90260	31	0.99921174864262352	0.98787	0.83216	0.42352	D	AEFDGBCI	0.811773	0.73467	D	0.762974766057605	0.83747	8.099164	0.668520105960494	0.79996	7.201961	0.999999999894642	0.74766	0.67177	0.52595	0	0.550933	0.16991	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.73	4.73	0.59485	2.889000	0.48300	4.484000	0.43545	-0.120000	0.14102	1.000000	0.71638	1.000000	0.68203	0.964000	0.52637	0.0:0.0:1.0:0.0	18.072	0.89338	928	0.17405	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4	1644.69	126	chr10	124998090	.	G	A	1644.69	.	AC=4;AF=0.4;AN=10;BaseQRankSum=0;DP=931;ExcessHet=2.5225;FS=10.161;MLEAC=5;MLEAF=0.5;MQ=58.03;MQRankSum=-7.662;QD=3.48;ReadPosRankSum=3.3;SOR=1.651	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:77,21:98:99:0|1:124998077_C_G:650,0,3150:124998077	1	0	4	2
chr10	124998111	124998111	A	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.T622G:p.C208G,CTBP2:NM_022802:exon4:c.T2038G:p.C680G,CTBP2:NM_001321013:exon5:c.T418G:p.C140G,CTBP2:NM_001083914:exon6:c.T418G:p.C140G,CTBP2:NM_001290214:exon6:c.T418G:p.C140G,CTBP2:NM_001290215:exon6:c.T418G:p.C140G,CTBP2:NM_001321012:exon6:c.T418G:p.C140G,CTBP2:NM_001321014:exon6:c.T418G:p.C140G,CTBP2:NM_001329:exon6:c.T418G:p.C140G	.	410	944	157	11	0	179	0.0865989	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.706	0.118222220686	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796159102	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.28271	T	0.677	0.30045	T	0.792	0.44688	P	0.742	0.55764	P	0.000000	0.84330	D	0.000000	1	0.81001	D	-0.895	0.01383	N	-1.16	0.78082	T	-10.62	0.99118	D	0.915	0.92084	-0.3132	0.74615	T	0.196	0.55013	T	10	0.8713615	0.86403	D	0.118222	0.79821	D	0.706	0.89468	0.702	0.83869	0.912513623049	0.91163	0.9715165431574718	0.97140	1.07786358497	0.77034	0.792436718941	0.80814	T	0.566859	0.85593	D	0.34296	0.86036	D	0.254862	0.85852	D	0.979450762271881	0.72840	D	0.749425	0.37065	T	0.9582798	0.97106	0.86085767	0.92237	0.9582798	0.97106	0.86085767	0.92238	-11.17	0.90895	D	.	.	0.677	0.72022	P	.;.;.;.;.;.	.;.;.;.;.;.	4.908805	0.80750	27.4	0.97552676337226596	0.34577	0.93781	0.59173	D	AEFDGBCI	0.967747	0.99022	D	-0.0331808542601439	0.40357	2.395268	0.177505344340639	0.48618	3.075226	0.999999999998707	0.74766	0.67177	0.52595	0	0.550933	0.16991	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.73	4.73	0.59485	8.942000	0.92506	11.101000	0.86122	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.839000	0.39591	1.0:0.0:0.0:0.0	14.522	0.67442	928	0.17405	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4	1597.76	128	chr10	124998111	.	A	C	1597.76	.	AC=4;AF=0.4;AN=10;BaseQRankSum=-0.605;DP=935;ExcessHet=2.5225;FS=8.287;MLEAC=5;MLEAF=0.5;MQ=58.06;MQRankSum=-7.794;QD=3.36;ReadPosRankSum=4.81;SOR=1.46	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:80,21:101:99:0|1:124998111_A_C:641,0,3265:124998111	1	0	4	2
chr10	124998113	124998113	A	G	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.T620C:p.I207T,CTBP2:NM_022802:exon4:c.T2036C:p.I679T,CTBP2:NM_001321013:exon5:c.T416C:p.I139T,CTBP2:NM_001083914:exon6:c.T416C:p.I139T,CTBP2:NM_001290214:exon6:c.T416C:p.I139T,CTBP2:NM_001290215:exon6:c.T416C:p.I139T,CTBP2:NM_001321012:exon6:c.T416C:p.I139T,CTBP2:NM_001321014:exon6:c.T416C:p.I139T,CTBP2:NM_001329:exon6:c.T416C:p.I139T	.	407	952	152	11	0	174	0.0837344	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.345	0.0441406922816	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs376695472	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.49117	D	0.018	0.63109	D	0.009	0.16609	B	0.245	0.43514	B	0.005992	0.32354	N	0.362203	0.988384	0.40754	D	1.57	0.39626	L	0.83	0.47815	T	-2.71	0.62630	D	0.584	0.63544	-0.4637	0.69944	T	0.283	0.65458	T	10	0.6084408	0.67308	D	0.044141	0.61343	D	0.345	0.66676	0.751	0.88155	0.737279644149	0.73493	0.9229225010523135	0.92269	2.07736266856	0.94533	0.59366941452	0.52011	T	0.642362	0.89048	D	0.0826065	0.62345	D	-0.119118	0.61876	T	0.971555709838867	0.69361	D	0.751225	0.37284	T	0.56677717	0.70883	0.3280792	0.58700	0.56677717	0.70884	0.3280792	0.58699	-8.556	0.67961	D	.	.	0.481	0.69086	A	.;.;.;.;.;.	.;.;.;.;.;.	3.559859	0.50089	22.9	0.99260520779104144	0.57188	0.90885	0.52445	D	AEFDGBCI	0.920892	0.89354	D	0.260421526544683	0.54157	3.581951	0.337703125837148	0.57769	3.944058	0.999999999998707	0.74766	0.67177	0.52595	0	0.550933	0.16991	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.73	4.73	0.59485	7.143000	0.76935	7.993000	0.76119	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.563000	0.30483	1.0:0.0:0.0:0.0	14.522	0.67442	928	0.17405	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4	1576.76	126	chr10	124998113	.	A	G	1576.76	.	AC=4;AF=0.4;AN=10;BaseQRankSum=-0.313;DP=933;ExcessHet=2.5225;FS=8.287;MLEAC=5;MLEAF=0.5;MQ=58.06;MQRankSum=-7.838;QD=3.26;ReadPosRankSum=4.74;SOR=1.458	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:81,21:102:99:0|1:124998111_A_C:638,0,3307:124998111	1	0	4	2
chr10	125002983	125002983	T	G	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon3:c.A539C:p.D180A,CTBP2:NM_022802:exon3:c.A1955C:p.D652A,CTBP2:NM_001321013:exon4:c.A335C:p.D112A,CTBP2:NM_001083914:exon5:c.A335C:p.D112A,CTBP2:NM_001290214:exon5:c.A335C:p.D112A,CTBP2:NM_001290215:exon5:c.A335C:p.D112A,CTBP2:NM_001321012:exon5:c.A335C:p.D112A,CTBP2:NM_001321014:exon5:c.A335C:p.D112A,CTBP2:NM_001329:exon5:c.A335C:p.D112A	.	450	846	218	8	0	234	0.121495	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.948	0.596276217237	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796433756	6.844e-07	6.84e-07	0	1.376e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.006	0.70582	D	0.997	0.70673	D	0.894	0.63417	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.935	0.84639	M	-3.5	0.94658	D	-7.18	0.94786	D	0.995	0.99954	1.048	0.98073	D	0.913	0.97116	D	10	0.98108125	0.98114	D	0.596276	0.96430	D	0.948	0.98990	0.847	0.95025	0.985246513857	0.98508	0.9901502538290843	0.99010	2.21030123888	0.95757	0.827131271362	0.86123	D	0.80395	0.95030	D	0.531082	0.95186	D	0.525086	0.95114	D	0.997385203838348	0.91430	D	0.69753	0.30746	T	0.9735778	0.98583	0.92888653	0.97017	0.9735778	0.98583	0.92888653	0.97018	-12.406	0.90114	D	.	.	0.981	0.91385	P	.;.;.;.;.;.	.;.;.;.;.;.	5.332404	0.89486	30	0.99357061535026048	0.60820	0.97620	0.75953	D	AEFDGBCI	0.936879	0.93385	D	0.65147023026997	0.76465	6.491341	0.533343637265574	0.70246	5.477253	0.999999999999824	0.74766	0.722319	0.85440	0	0.588066	0.40923	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	4.68	4.68	0.58319	8.017000	0.88732	7.781000	0.68671	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	14.428	0.66804	926	0.17793	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	154.79	62	chr10	125002983	.	T	G	154.79	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-1.345;DP=539;ExcessHet=0.3476;FS=1.255;MLEAC=2;MLEAF=0.167;MQ=55.91;MQRankSum=0;QD=3.04;ReadPosRankSum=-0.992;SOR=0.681	GT:AD:DP:GQ:PL	0/1:33,10:43:99:118,0,919	4	0	2	1
chr10	125003006	125003006	T	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon3:c.A516G:p.I172M,CTBP2:NM_022802:exon3:c.A1932G:p.I644M,CTBP2:NM_001321013:exon4:c.A312G:p.I104M,CTBP2:NM_001083914:exon5:c.A312G:p.I104M,CTBP2:NM_001290214:exon5:c.A312G:p.I104M,CTBP2:NM_001290215:exon5:c.A312G:p.I104M,CTBP2:NM_001321012:exon5:c.A312G:p.I104M,CTBP2:NM_001321014:exon5:c.A312G:p.I104M,CTBP2:NM_001329:exon5:c.A312G:p.I104M	.	446	735	288	11	42	352	0.174157	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.299	0.0321536739593	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs112239066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.08	0.63918	T	0.181	0.33195	B	0.448	0.54942	P	0.000000	0.84330	D	0.041576	0.999844	0.50061	D	0.75	0.19020	N	0.49	0.55775	T	-2.64	0.58569	D	0.836	0.83269	-0.7500	0.57935	T	0.204	0.56197	T	10	0.6425146	0.69138	D	0.032154	0.54058	D	0.299	0.61955	0.608	0.74063	0.888756313204	0.88766	0.8899222963871994	0.88962	1.97030917324	0.93550	0.763966917992	0.76522	T	0.498739	0.82005	T	0.153991	0.69642	D	-0.0165792	0.69254	D	0.892641007900238	0.54376	D	0.971703	0.89738	D	0.900253	0.91405	0.73775256	0.84500	0.900253	0.91406	0.73775256	0.84501	-11.638	0.83043	D	.	.	0.704	0.73111	P	.;.;.;.;.;.	.;.;.;.;.;.	3.009532	0.40238	21.1	0.98800960143032701	0.46445	0.70557	0.34640	D	AEFDGBCI	0.375410	0.45995	N	-0.354523303243395	0.27107	1.484558	-0.382971277888603	0.25504	1.402991	0.999987104814068	0.51787	0.722319	0.85440	0	0.588066	0.40923	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	4.94	-0.385	0.11849	0.087000	0.14801	-2.864000	0.03283	0.661000	0.55757	0.984000	0.35821	0.000000	0.08366	0.987000	0.62547	0.1048:0.0:0.556:0.3392	9.404	0.37616	925	0.17918	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	557.05	62	chr10	125003006	.	T	C	557.05	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-1.345;DP=568;ExcessHet=1.1394;FS=1.866;MLEAC=3;MLEAF=0.25;MQ=56.74;MQRankSum=-3.356;QD=3.62;ReadPosRankSum=-0.135;SOR=0.999	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:32,12:44:99:0|1:125003006_T_C:408,0,1308:125003006	3	0	3	1
chr10	125003008	125003008	T	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon3:c.A514G:p.I172V,CTBP2:NM_022802:exon3:c.A1930G:p.I644V,CTBP2:NM_001321013:exon4:c.A310G:p.I104V,CTBP2:NM_001083914:exon5:c.A310G:p.I104V,CTBP2:NM_001290214:exon5:c.A310G:p.I104V,CTBP2:NM_001290215:exon5:c.A310G:p.I104V,CTBP2:NM_001321012:exon5:c.A310G:p.I104V,CTBP2:NM_001321014:exon5:c.A310G:p.I104V,CTBP2:NM_001329:exon5:c.A310G:p.I104V	.	445	756	296	11	14	332	0.17377	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.268	0.00473531755394	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs112508291	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	0.49117	T	0.225	0.53426	T	0.077	0.31731	B	0.17	0.40265	B	0.000000	0.84330	D	0.041576	0.999999	0.58761	D	0.695	0.17993	N	0.75	0.50192	T	-0.79	0.24026	N	0.556	0.58202	-0.9237	0.45041	T	0.114	0.40582	T	10	0.38906825	0.54757	T	0.004735	0.11784	T	0.268	0.58254	0.543	0.65589	0.617811438573	0.61472	0.8191908894802049	0.81876	0.844564219319	0.68219	0.727838099003	0.71190	T	0.212424	0.57347	T	0.0218691	0.54635	T	-0.206363	0.54044	T	0.846796572208405	0.49891	D	0.80082	0.44648	T	0.6371357	0.74678	0.6131621	0.77490	0.6371357	0.74680	0.6131621	0.77491	-10.157	0.74846	D	.	.	0.354	0.56812	A	.;.;.;.;.;.	.;.;.;.;.;.	4.218404	0.63791	24.6	0.9760612770993129	0.34876	0.96140	0.67716	D	AEFDGBCI	0.953944	0.97066	D	-0.0415507725916174	0.39979	2.366619	0.072950189852906	0.43195	2.62624	0.999999999999936	0.74766	0.722319	0.85440	0	0.588066	0.40923	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	4.94	4.94	0.64645	6.271000	0.72566	7.738000	0.67953	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.0:1.0	14.902	0.70330	925	0.17918	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	551.05	62	chr10	125003008	.	T	C	551.05	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-1.347;DP=573;ExcessHet=1.1394;FS=1.864;MLEAC=3;MLEAF=0.25;MQ=56.78;MQRankSum=-3.356;QD=3.53;ReadPosRankSum=0.396;SOR=1.002	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:32,12:44:99:0|1:125003006_T_C:408,0,1308:125003006	3	0	3	1
chr10	125003010	125003010	C	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon3:c.G512A:p.R171Q,CTBP2:NM_022802:exon3:c.G1928A:p.R643Q,CTBP2:NM_001321013:exon4:c.G308A:p.R103Q,CTBP2:NM_001083914:exon5:c.G308A:p.R103Q,CTBP2:NM_001290214:exon5:c.G308A:p.R103Q,CTBP2:NM_001290215:exon5:c.G308A:p.R103Q,CTBP2:NM_001321012:exon5:c.G308A:p.R103Q,CTBP2:NM_001321014:exon5:c.G308A:p.R103Q,CTBP2:NM_001329:exon5:c.G308A:p.R103Q	.	444	756	297	11	14	333	0.174222	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.504	0.05280934696	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs760489730	3.421e-06	3.42e-06	4.084e-06	2.751e-06	2.698e-06	1e-06	7.3e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	3.312e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.49117	D	0.097	0.47828	T	0.981	0.70673	D	0.87	0.69585	P	0.000002	0.62929	D	0.103452	0.999999	0.58761	D	1.885	0.50048	L	0.74	0.50459	T	-3.3	0.70553	D	0.879	0.89020	-0.3679	0.73025	T	0.302	0.67288	T	10	0.8397628	0.83130	D	0.052809	0.65217	D	0.504	0.78600	0.649	0.78648	0.920337149778	0.91953	0.9496583447662756	0.94948	2.13197071687	0.95171	0.73884499073	0.72801	T	0.615991	0.87897	D	0.255676	0.79129	D	0.129484	0.78858	D	0.985857844352722	0.76728	D	0.876112	0.58827	D	0.93815976	0.95059	0.8432051	0.91051	0.93815976	0.95060	0.8432051	0.91051	-13.433	0.93329	D	.	.	0.974	0.90036	P	.;.;.;.;.;.	.;.;.;.;.;.	5.858587	0.93846	33	0.99909411540893078	0.97949	0.95340	0.64339	D	AEFDGBCI	0.924502	0.90264	D	0.389332597998194	0.60844	4.277879	0.288795626305503	0.54883	3.652246	0.999999999992808	0.74766	0.722319	0.85440	0	0.588066	0.40923	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	4.94	4.04	0.46262	6.159000	0.71664	3.924000	0.40490	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.9243:0.0:0.0757	13.592	0.61434	925	0.17918	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	557.05	62	chr10	125003010	.	C	T	557.05	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-0.938;DP=596;ExcessHet=1.1394;FS=7.688;MLEAC=3;MLEAF=0.25;MQ=57.22;MQRankSum=-3.356;QD=3.62;ReadPosRankSum=0.414;SOR=1.382	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:32,12:44:99:0|1:125003006_T_C:408,0,1308:125003006	3	0	3	1
chr10	125003036	125003036	C	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon3:c.G486T:p.K162N,CTBP2:NM_022802:exon3:c.G1902T:p.K634N,CTBP2:NM_001321013:exon4:c.G282T:p.K94N,CTBP2:NM_001083914:exon5:c.G282T:p.K94N,CTBP2:NM_001290214:exon5:c.G282T:p.K94N,CTBP2:NM_001290215:exon5:c.G282T:p.K94N,CTBP2:NM_001321012:exon5:c.G282T:p.K94N,CTBP2:NM_001321014:exon5:c.G282T:p.K94N,CTBP2:NM_001329:exon5:c.G282T:p.K94N	.	419	630	463	10	0	483	0.277108	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.295	0.0466189854146	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs201760950	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.568e-06	6.566e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.04	0.43708	D	0.12	0.58089	T	0.986	0.61523	D	0.89	0.63157	P	0.000000	0.84330	N	0.042861	0.999994	0.58761	D	1.115	0.28702	L	0.72	0.50976	T	-4.42	0.80425	D	0.797	0.79696	-0.8284	0.53403	T	0.177	0.52272	T	10	0.7330282	0.74429	D	0.046619	0.62540	D	0.295	0.61502	0.506	0.60078	0.669401567584	0.66661	0.9683590239784833	0.96823	1.29775370337	0.82942	0.700282335281	0.67184	T	0.552971	0.84897	D	-0.0504497	0.44379	T	-0.310244	0.43632	T	0.989160597324371	0.79417	D	0.748325	0.36895	T	0.7315896	0.79813	0.47296822	0.69449	0.7315896	0.79814	0.47296822	0.69450	-15.293	0.98237	D	.	.	0.987	0.92764	P	.;.;.;.;.;.	.;.;.;.;.;.	4.828208	0.78704	27.0	0.99659729855249335	0.77883	0.88851	0.48981	D	AEFDGBCI	0.619890	0.60515	D	0.116058801363205	0.47212	2.950075	0.0734135689233688	0.43216	2.628043	0.999999959797154	0.74766	0.722319	0.85440	0	0.633656	0.55848	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	4.94	4.03	0.46115	2.713000	0.46862	1.753000	0.28490	-0.180000	0.10397	1.000000	0.71638	1.000000	0.68203	0.924000	0.46004	0.1568:0.6905:0.0:0.1528	6.007	0.18780	925	0.17918	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	541.79	70	chr10	125003036	.	C	A	541.79	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-1.589;DP=592;ExcessHet=0.3476;FS=6.435;MLEAC=2;MLEAF=0.167;MQ=56.93;MQRankSum=-3.807;QD=9.85;ReadPosRankSum=2.07;SOR=1.323	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:35,13:48:99:0|1:125003036_C_A:441,0,1417:125003036	4	0	2	1
chr10	125003062	125003062	T	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon3:c.A460T:p.T154S,CTBP2:NM_022802:exon3:c.A1876T:p.T626S,CTBP2:NM_001321013:exon4:c.A256T:p.T86S,CTBP2:NM_001083914:exon5:c.A256T:p.T86S,CTBP2:NM_001290214:exon5:c.A256T:p.T86S,CTBP2:NM_001290215:exon5:c.A256T:p.T86S,CTBP2:NM_001321012:exon5:c.A256T:p.T86S,CTBP2:NM_001321014:exon5:c.A256T:p.T86S,CTBP2:NM_001329:exon5:c.A256T:p.T86S	.	411	643	453	15	0	483	0.273036	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.491	0.0483128458714	.	.	.	.	.	.	.	.	.	.	0.0001921	5	26028	rs3198936	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	0.41637	T	0.522	0.36901	T	0.007	0.21357	B	0.008	0.27757	B	0.000000	0.84330	N	0.044612	0.996569	0.47043	D	1.065	0.27018	L	-1.93	0.84842	D	-3.0	0.65283	D	0.671	0.67908	-0.3304	0.74122	T	0.453	0.78662	T	10	0.56667346	0.65089	D	0.048313	0.63318	D	0.491	0.77783	0.57	0.69299	0.899189000732	0.89818	0.8017034108621458	0.80124	0.863764543004	0.69092	0.755492687225	0.75259	T	0.411071	0.76563	T	0.128098	0.67174	D	-0.0537727	0.66764	D	0.93286007642746	0.59920	D	0.675032	0.28342	T	0.4517838	0.64154	0.32242507	0.58182	0.4517838	0.64154	0.32242507	0.58182	-10.785	0.78466	D	.	.	0.259	0.49334	B	.;.;.;.;.;.	.;.;.;.;.;.	5.379924	0.90166	31	0.92993315479242666	0.22579	0.88414	0.48331	D	AEFDGBCI	0.628457	0.61053	D	-0.327467056762658	0.28109	1.547675	-0.174877914286987	0.32463	1.847172	0.999999921045429	0.74766	0.722319	0.85440	0	0.633656	0.55848	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	4.94	3.79	0.42757	4.998000	0.63670	6.076000	0.53302	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.1374:0.0:0.0:0.8626	11.226	0.48116	925	0.17918	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	632.29	68	chr10	125003062	.	T	A	632.29	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-1.345;DP=621;ExcessHet=2.5225;FS=10.332;MLEAC=4;MLEAF=0.333;MQ=57.1;MQRankSum=-4.221;QD=2.54;ReadPosRankSum=1.29;SOR=1.623	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:38,14:52:99:0|1:125003062_T_A:473,0,1530:125003062	2	0	4	1
chr10	125003065	125003065	T	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon3:c.A457T:p.I153F,CTBP2:NM_022802:exon3:c.A1873T:p.I625F,CTBP2:NM_001321013:exon4:c.A253T:p.I85F,CTBP2:NM_001083914:exon5:c.A253T:p.I85F,CTBP2:NM_001290214:exon5:c.A253T:p.I85F,CTBP2:NM_001290215:exon5:c.A253T:p.I85F,CTBP2:NM_001321012:exon5:c.A253T:p.I85F,CTBP2:NM_001321014:exon5:c.A253T:p.I85F,CTBP2:NM_001329:exon5:c.A253T:p.I85F	.	409	645	453	15	0	483	0.27242	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.503	0.0700064426899	.	.	.	.	.	.	.	.	.	.	0.0001921	5	26028	rs75794788	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.25	0.48855	T	0.964	0.55854	D	0.865	0.63213	P	0.000000	0.84330	N	0.045107	1	0.81001	D	1.03	0.25572	L	0.6	0.53731	T	-3.56	0.72471	D	0.881	0.88909	-0.6507	0.62684	T	0.246	0.61530	T	10	0.75938225	0.76228	D	0.070006	0.70884	D	0.503	0.78538	0.497	0.58678	0.79712420435	0.79523	0.952589839956618	0.95242	2.43300071254	0.97277	0.815389215946	0.84320	D	0.550178	0.84755	D	0.238164	0.77489	D	0.10433	0.77195	D	0.969830691814423	0.68732	D	0.789321	0.42944	T	0.9161864	0.92879	0.80227107	0.88412	0.9161864	0.92880	0.80227107	0.88413	-16.606	0.99306	D	.	.	0.965	0.88639	P	.;.;.;.;.;.	.;.;.;.;.;.	5.439656	0.90921	32	0.9869222858790262	0.44780	0.95041	0.63223	D	AEFDGBCI	0.932153	0.92207	D	0.318344020359099	0.57088	3.875162	0.3071809800043	0.55960	3.758966	0.999999998494387	0.74766	0.722319	0.85440	0	0.633656	0.55848	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	4.94	3.79	0.42757	7.961000	0.87447	6.071000	0.53257	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.1374:0.0:0.0:0.8626	11.226	0.48116	925	0.17918	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	632.29	68	chr10	125003065	.	T	A	632.29	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-1.345;DP=624;ExcessHet=2.5225;FS=10.332;MLEAC=4;MLEAF=0.333;MQ=57.12;MQRankSum=-4.221;QD=2.54;ReadPosRankSum=1.29;SOR=1.625	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:38,14:52:99:0|1:125003062_T_A:473,0,1530:125003062	2	0	4	1
chr10	125003091	125003091	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon3:c.C431T:p.A144V,CTBP2:NM_022802:exon3:c.C1847T:p.A616V,CTBP2:NM_001321013:exon4:c.C227T:p.A76V,CTBP2:NM_001083914:exon5:c.C227T:p.A76V,CTBP2:NM_001290214:exon5:c.C227T:p.A76V,CTBP2:NM_001290215:exon5:c.C227T:p.A76V,CTBP2:NM_001321012:exon5:c.C227T:p.A76V,CTBP2:NM_001321014:exon5:c.C227T:p.A76V,CTBP2:NM_001329:exon5:c.C227T:p.A76V	.	423	874	217	8	0	233	0.117617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.428	0.0396646121041	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs3198935	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.04	0.53788	D	0.997	0.70673	D	0.9	0.67350	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.63	0.41750	L	0.64	0.52867	T	-3.59	0.72353	D	0.83	0.86404	-0.7342	0.58751	T	0.234	0.60063	T	10	0.85133255	0.84313	D	0.039665	0.58940	D	0.428	0.73517	0.615	0.74884	0.805301142055	0.80348	0.9739020719154817	0.97380	1.79913636405	0.91619	0.833252906799	0.87062	D	0.558733	0.85191	D	0.278003	0.81145	D	0.161556	0.80903	D	0.981222689151764	0.73791	D	0.836316	0.50742	T	0.71443444	0.78852	0.29747087	0.55780	0.71443444	0.78854	0.29747087	0.55779	-11.965	0.84680	D	.	.	0.991	0.94980	P	.;.;.;.;.;.	.;.;.;.;.;.	4.805965	0.78137	26.8	0.99882348519737318	0.95813	0.98748	0.86347	D	AEFDGBCI	0.955612	0.97357	D	0.457477404135832	0.64629	4.721769	0.367611348405123	0.59576	4.136584	1.0	0.98316	0.645754	0.44609	0	0.633656	0.55848	0	0.696144	0.63334	0	0.711	0.71501	0	.	.	4.68	4.68	0.58319	10.003000	0.99689	11.683000	0.94248	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.222000	0.22517	0.0:0.0:1.0:0.0	17.956	0.88988	925	0.17918	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	242.79	65	chr10	125003091	.	G	A	242.79	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.189;DP=519;ExcessHet=0.3476;FS=2.665;MLEAC=2;MLEAF=0.167;MQ=55.13;MQRankSum=0;QD=4.67;ReadPosRankSum=-1.96;SOR=1.021	GT:AD:DP:GQ:PL	0/1:34,12:46:99:172,0,1008	4	0	2	1
chr10	125003357	125003357	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.C398T:p.T133M,CTBP2:NM_022802:exon2:c.C1814T:p.T605M,CTBP2:NM_001321013:exon3:c.C194T:p.T65M,CTBP2:NM_001083914:exon4:c.C194T:p.T65M,CTBP2:NM_001290214:exon4:c.C194T:p.T65M,CTBP2:NM_001290215:exon4:c.C194T:p.T65M,CTBP2:NM_001321012:exon4:c.C194T:p.T65M,CTBP2:NM_001321014:exon4:c.C194T:p.T65M,CTBP2:NM_001329:exon4:c.C194T:p.T65M	.	424	862	235	1	0	237	0.120857	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.785	0.338057885342	.	.	1.698e-05	0	0	0	0	3.122e-05	0	0	1.29e-05	2	154602	rs768573864	8.23e-06	8.209e-06	1.092e-05	5.513e-06	8.998e-06	4.39e-06	3.47e-06	4.55e-06	3.32e-06	0	0	0	0	1.905e-05	0	8.998e-06	1.662e-05	0	6.571e-06	6.566e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.005	0.78490	D	0.041	0.58089	D	0.924	0.73220	P	0.646	0.66904	P	0.000000	0.84330	D	0.047645	1	0.81001	D	1.975	0.53506	M	-1.93	0.84842	D	-5.55	0.89152	D	0.825	0.82964	0.559	0.91361	D	0.703	0.89790	D	10	0.84322035	0.83481	D	0.338058	0.91938	D	0.785	0.92868	0.55	0.66576	0.871695389801	0.87044	0.8858696461970613	0.88555	2.04020034352	0.94242	0.847845315933	0.89288	D	0.769737	0.93827	D	0.312043	0.83899	D	0.210452	0.83688	D	0.965979218482971	0.67436	D	0.89801	0.64352	D	0.83755374	0.86434	0.83579093	0.90562	0.83755374	0.86436	0.83579093	0.90562	-13.803	0.92478	D	.	.	0.915	0.83817	P	.;.;.;.;.;.	.;.;.;.;.;.	5.948125	0.94152	33	0.9988098438978944	0.95733	0.97166	0.73078	D	AEFDGBHCI	0.946022	0.95501	D	0.641428984643706	0.75816	6.373162	0.605033197001249	0.75304	6.287037	1.0	0.98316	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.4	4.4	0.52402	9.992000	0.99232	11.673000	0.94126	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.954000	0.50415	0.0:0.0:1.0:0.0	17.367	0.87255	923	0.18507	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	182.25	66	chr10	125003357	.	G	A	182.25	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.444;DP=438;ExcessHet=0.3476;FS=0;MLEAC=2;MLEAF=0.143;MQ=59.07;MQRankSum=-8.018;QD=1.6;ReadPosRankSum=-2.033;SOR=0.573	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:45,5:50:75:0|1:125003350_T_C:75,0,1854:125003350	5	0	2	0
chr10	125003368	125003368	G	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.C387G:p.D129E,CTBP2:NM_022802:exon2:c.C1803G:p.D601E,CTBP2:NM_001321013:exon3:c.C183G:p.D61E,CTBP2:NM_001083914:exon4:c.C183G:p.D61E,CTBP2:NM_001290214:exon4:c.C183G:p.D61E,CTBP2:NM_001290215:exon4:c.C183G:p.D61E,CTBP2:NM_001321012:exon4:c.C183G:p.D61E,CTBP2:NM_001321014:exon4:c.C183G:p.D61E,CTBP2:NM_001329:exon4:c.C183G:p.D61E	.	430	852	239	1	0	241	0.123907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.229	0.0278736828157	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.52492	D	0.035	0.76473	D	0.057	0.33445	B	0.084	0.45295	B	0.000001	0.84330	D	0.093937	0.998215	0.47795	D	1.255	0.31814	L	0.84	0.47477	T	-3.72	0.73151	D	0.731	0.74280	-0.8081	0.54665	T	0.168	0.50745	T	10	0.57244885	0.65394	D	0.027874	0.50634	D	0.229	0.52916	0.567	0.68901	0.742667268481	0.74035	0.9372575970872389	0.93705	0.839287628383	0.67962	0.822298943996	0.85381	D	0.532581	0.83851	D	-0.00859042	0.50463	T	-0.250116	0.49806	T	0.95814836025238	0.65193	D	0.816918	0.54045	T	0.61954224	0.73738	0.49464875	0.70773	0.61954224	0.73740	0.49464875	0.70773	-13.991	0.95421	D	.	.	0.998	0.97084	P	.;.;.;.;.;.	.;.;.;.;.;.	1.288935	0.16893	12.83	0.98899659867088185	0.48163	0.32479	0.24596	N	AEFDGBHCI	0.425946	0.49050	N	-0.575959099119209	0.19677	1.031687	-0.660887068078052	0.17942	0.9563054	0.999999886987385	0.74766	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	-4.33	0.03423	-0.760000	0.04861	-7.833000	0.01078	0.662000	0.56354	0.017000	0.19353	0.000000	0.08366	0.996000	0.76049	0.7124:0.0:0.2876:0.0	14.997	0.71096	923	0.18507	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2143	429.74	67	chr10	125003368	.	G	C	429.74	.	AC=3;AF=0.214;AN=14;BaseQRankSum=0.71;DP=449;ExcessHet=1.1394;FS=0;MLEAC=3;MLEAF=0.214;MQ=58.88;MQRankSum=-8.377;QD=2.34;ReadPosRankSum=-2.038;SOR=0.768	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:39,6:45:99:0|1:125003350_T_C:135,0,1599:125003350	4	0	3	0
chr10	125003382	125003382	C	-	exonic	CTBP2	.	frameshift deletion	CTBP2:NM_001363508:exon2:c.373delG:p.V125Wfs*17,CTBP2:NM_022802:exon2:c.1789delG:p.V597Wfs*17,CTBP2:NM_001321013:exon3:c.169delG:p.V57Wfs*17,CTBP2:NM_001083914:exon4:c.169delG:p.V57Wfs*17,CTBP2:NM_001290214:exon4:c.169delG:p.V57Wfs*17,CTBP2:NM_001290215:exon4:c.169delG:p.V57Wfs*17,CTBP2:NM_001321012:exon4:c.169delG:p.V57Wfs*17,CTBP2:NM_001321014:exon4:c.169delG:p.V57Wfs*17,CTBP2:NM_001329:exon4:c.169delG:p.V57Wfs*17	.	420	832	265	5	0	275	0.141826	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	818.61	70	chr10	125003381	.	AC	A	818.61	.	AC=5;AF=0.357;AN=14;BaseQRankSum=0.088;DP=460;ExcessHet=4.7409;FS=0.879;MLEAC=5;MLEAF=0.357;MQ=58.87;MQRankSum=-8.474;QD=2.25;ReadPosRankSum=-1.303;SOR=0.804	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:39,8:47:99:0|1:125003381_AC_A:219,0,1606:125003381	2	0	5	0
chr10	125003410	125003410	C	G	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.G345C:p.E115D,CTBP2:NM_022802:exon2:c.G1761C:p.E587D,CTBP2:NM_001321013:exon3:c.G141C:p.E47D,CTBP2:NM_001083914:exon4:c.G141C:p.E47D,CTBP2:NM_001290214:exon4:c.G141C:p.E47D,CTBP2:NM_001290215:exon4:c.G141C:p.E47D,CTBP2:NM_001321012:exon4:c.G141C:p.E47D,CTBP2:NM_001321014:exon4:c.G141C:p.E47D,CTBP2:NM_001329:exon4:c.G141C:p.E47D	.	421	824	273	4	0	281	0.145671	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.261	0.0418347474684	.	.	.	.	.	.	.	.	.	.	0.0001921	5	26028	rs74705267	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.088	0.62352	T	0.043	0.35387	B	0.17	0.48482	B	0.000054	0.53742	D	0.195283	0.999999	0.58761	D	0.98	0.24916	L	0.68	0.51952	T	-2.71	0.59710	D	0.686	0.73555	-0.5581	0.66476	T	0.255	0.62530	T	10	0.56158	0.64817	D	0.041835	0.60142	D	0.261	0.57352	0.434	0.48500	0.881554203603	0.88039	0.972171025341375	0.97206	1.7143308071	0.90477	0.748663306236	0.74250	T	0.62925	0.88488	D	0.139244	0.68253	D	-0.0377626	0.67852	D	0.957904279232025	0.65131	D	0.844016	0.52137	T	0.77675706	0.82455	0.4746194	0.69552	0.77675706	0.82456	0.4746194	0.69552	-14.274	0.93913	D	.	.	0.998	0.98268	P	.;.;.;.;.;.	.;.;.;.;.;.	4.166684	0.62622	24.5	0.99797317996392532	0.88283	0.94867	0.62605	D	AEFDGBHCI	0.781566	0.71311	D	0.172151716873866	0.49864	3.182254	0.205790313476848	0.50167	3.211761	0.999999999997825	0.74766	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	3.8	0.42887	5.029000	0.63903	1.014000	0.23354	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.9225:0.0:0.0775	13.510	0.60961	923	0.18507	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2143	313.74	61	chr10	125003410	.	C	G	313.74	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-2.1;DP=423;ExcessHet=1.1394;FS=1.933;MLEAC=3;MLEAF=0.214;MQ=58.55;MQRankSum=-7.953;QD=1.79;ReadPosRankSum=1.46;SOR=0.637	GT:AD:DP:GQ:PL	0/1:40,8:48:54:54,0,1091	4	0	3	0
chr10	125003448	125003448	G	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.C307G:p.L103V,CTBP2:NM_022802:exon2:c.C1723G:p.L575V,CTBP2:NM_001321013:exon3:c.C103G:p.L35V,CTBP2:NM_001083914:exon4:c.C103G:p.L35V,CTBP2:NM_001290214:exon4:c.C103G:p.L35V,CTBP2:NM_001290215:exon4:c.C103G:p.L35V,CTBP2:NM_001321012:exon4:c.C103G:p.L35V,CTBP2:NM_001321014:exon4:c.C103G:p.L35V,CTBP2:NM_001329:exon4:c.C103G:p.L35V	.	415	822	281	4	0	289	0.149509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.276	0.0482046556134	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs3198920	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.46129	T	0.06	0.70582	T	0.977	0.70673	D	0.695	0.72444	P	0.000204	0.47681	D	0.143597	0.999973	0.53665	D	1.24	0.30952	L	0.56	0.54540	T	-2.77	0.59545	D	0.749	0.74918	-0.7112	0.59893	T	0.257	0.62699	T	10	0.56829476	0.65175	D	0.048205	0.63269	D	0.276	0.59253	0.336	0.32491	0.772200913293	0.77011	0.9284518054969177	0.92823	1.54105169968	0.87712	0.653429269791	0.60473	T	0.450833	0.79179	T	0.0930372	0.63530	D	-0.104135	0.63075	T	0.921929836273193	0.58181	D	0.835916	0.50694	T	0.38344187	0.59564	0.2654763	0.52381	0.38344187	0.59565	0.2654763	0.52380	-11.24	0.86033	D	.	.	0.857	0.85926	P	.;.;.;.;.;.	.;.;.;.;.;.	4.413740	0.68303	25.2	0.95986553857963608	0.28374	0.93332	0.57934	D	AEFDBHCI	0.721280	0.67158	D	0.197166407657861	0.51063	3.290622	0.0912559216929815	0.44107	2.69894	0.999999466762818	0.74766	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	1.83	0.24279	4.055000	0.57153	3.753000	0.39691	-0.154000	0.11915	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.3038:0.0:0.6962:0.0	9.074	0.35672	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4167	880.62	55	chr10	125003448	.	G	C	880.62	.	AC=5;AF=0.417;AN=12;BaseQRankSum=0.012;DP=391;ExcessHet=6.1542;FS=0.585;MLEAC=5;MLEAF=0.417;MQ=58.6;MQRankSum=-7.5;QD=2.92;ReadPosRankSum=1.08;SOR=0.773	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:41,7:48:99:0|1:125003425_G_C:171,0,1701:125003425	1	0	5	1
chr10	125003450	125003450	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.C305T:p.P102L,CTBP2:NM_022802:exon2:c.C1721T:p.P574L,CTBP2:NM_001321013:exon3:c.C101T:p.P34L,CTBP2:NM_001083914:exon4:c.C101T:p.P34L,CTBP2:NM_001290214:exon4:c.C101T:p.P34L,CTBP2:NM_001290215:exon4:c.C101T:p.P34L,CTBP2:NM_001321012:exon4:c.C101T:p.P34L,CTBP2:NM_001321014:exon4:c.C101T:p.P34L,CTBP2:NM_001329:exon4:c.C101T:p.P34L	.	415	825	279	3	0	285	0.147287	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.538	0.184870613505	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796256730	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.68238	D	0.003	0.83351	D	1.0	0.90584	D	0.994	0.88582	D	0.000000	0.84330	N	0.048585	1	0.81001	D	2.215	0.62545	M	0.4	0.57261	T	-9.29	0.98415	D	0.771	0.82559	-0.3944	0.72203	T	0.310	0.68003	T	10	0.77988756	0.77765	D	0.184871	0.85777	D	0.538	0.80664	0.515	0.61459	0.793810481979	0.79189	0.9928132138473921	0.99277	2.02998117833	0.94073	0.801052808762	0.82123	T	0.591617	0.86780	D	0.254993	0.79067	D	0.128504	0.78794	D	0.999326944351196	0.96966	D	0.948805	0.80311	D	0.80739933	0.84383	0.63186806	0.78521	0.80739933	0.84384	0.63186806	0.78522	-10.77	0.87601	D	.	.	0.981	0.91262	P	.;.;.;.;.;.	.;.;.;.;.;.	5.876492	0.93912	33	0.99537415390314665	0.70274	0.97949	0.78358	D	AEFDBHCI	0.949159	0.96151	D	0.396560092074224	0.61236	4.321908	0.310569273267847	0.56158	3.779008	0.999999999991253	0.74766	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	3.81	0.43020	10.003000	0.99689	11.566000	0.93257	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.1423:0.8577:0.0	15.129	0.72177	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4167	628.04	52	chr10	125003450	.	G	A	628.04	.	AC=5;AF=0.417;AN=12;BaseQRankSum=0.277;DP=381;ExcessHet=6.1542;FS=7.682;MLEAC=5;MLEAF=0.417;MQ=58.83;MQRankSum=-7.344;QD=2.12;ReadPosRankSum=0.905;SOR=1.286	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:41,7:48:99:0|1:125003425_G_C:171,0,1701:125003425	1	0	5	1
chr10	125003454	125003454	G	-	exonic	CTBP2	.	frameshift deletion	CTBP2:NM_001363508:exon2:c.301delC:p.R101Afs*19,CTBP2:NM_022802:exon2:c.1717delC:p.R573Afs*19,CTBP2:NM_001321013:exon3:c.97delC:p.R33Afs*19,CTBP2:NM_001083914:exon4:c.97delC:p.R33Afs*19,CTBP2:NM_001290214:exon4:c.97delC:p.R33Afs*19,CTBP2:NM_001290215:exon4:c.97delC:p.R33Afs*19,CTBP2:NM_001321012:exon4:c.97delC:p.R33Afs*19,CTBP2:NM_001321014:exon4:c.97delC:p.R33Afs*19,CTBP2:NM_001329:exon4:c.97delC:p.R33Afs*19	.	418	851	251	2	0	255	0.130301	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.007e-07	3.42e-06	0	1.411e-06	.	0	0	.	.	0	0	0	0	1.924e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	622.15	49	chr10	125003453	.	CG	C	622.15	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-0.012;DP=382;ExcessHet=4.7409;FS=7.698;MLEAC=5;MLEAF=0.357;MQ=58.84;MQRankSum=-7.275;QD=2.09;ReadPosRankSum=0.608;SOR=1.296	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:42,7:49:99:0|1:125003425_G_C:168,0,1743:125003425	2	0	5	0
chr10	125003460	125003460	G	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.C295A:p.H99N,CTBP2:NM_022802:exon2:c.C1711A:p.H571N,CTBP2:NM_001321013:exon3:c.C91A:p.H31N,CTBP2:NM_001083914:exon4:c.C91A:p.H31N,CTBP2:NM_001290214:exon4:c.C91A:p.H31N,CTBP2:NM_001290215:exon4:c.C91A:p.H31N,CTBP2:NM_001321012:exon4:c.C91A:p.H31N,CTBP2:NM_001321014:exon4:c.C91A:p.H31N,CTBP2:NM_001329:exon4:c.C91A:p.H31N	.	415	860	246	1	0	248	0.126016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.554	0.0669258259103	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs796388243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.56456	D	0.108	0.50514	T	0.168	0.51467	B	0.138	0.54536	B	0.000186	0.48115	D	0.218873	0.999987	0.54805	D	2.135	0.59519	M	-1.65	0.83737	D	-4.47	0.78388	D	0.766	0.79214	0.171	0.85422	D	0.548	0.83407	D	10	0.6328803	0.68617	D	0.066926	0.70016	D	0.554	0.81601	0.416	0.45544	0.767328355039	0.76520	0.9728822579583015	0.97277	2.0305426451	0.94091	0.756400108337	0.75394	T	0.434559	0.78160	T	0.131495	0.67506	D	-0.0488934	0.67098	D	0.986545503139496	0.77236	D	0.927207	0.73169	D	0.4496781	0.64020	0.3526759	0.60841	0.4496781	0.64021	0.3526759	0.60840	-9.806	0.74846	D	.	.	0.451	0.62246	A	.;.;.;.;.;.	.;.;.;.;.;.	5.089181	0.84970	28.5	0.977327532623396	0.35628	0.98388	0.82268	D	AEFDBHCI	0.954424	0.97151	D	0.316318154352101	0.56987	3.864403	0.376191892726831	0.60101	4.194	1.0	0.98316	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	4.72	0.59248	7.744000	0.83944	8.399000	0.77102	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.050	0.89270	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4167	649.04	50	chr10	125003460	.	G	T	649.04	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-0.579;DP=375;ExcessHet=6.1542;FS=7.7;MLEAC=5;MLEAF=0.417;MQ=58.81;MQRankSum=-7.413;QD=2.25;ReadPosRankSum=-0.178;SOR=1.291	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:40,7:47:99:0|1:125003425_G_C:174,0,1659:125003425	1	0	5	1
chr10	125003466	125003466	G	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.C289A:p.P97T,CTBP2:NM_022802:exon2:c.C1705A:p.P569T,CTBP2:NM_001321013:exon3:c.C85A:p.P29T,CTBP2:NM_001083914:exon4:c.C85A:p.P29T,CTBP2:NM_001290214:exon4:c.C85A:p.P29T,CTBP2:NM_001290215:exon4:c.C85A:p.P29T,CTBP2:NM_001321012:exon4:c.C85A:p.P29T,CTBP2:NM_001321014:exon4:c.C85A:p.P29T,CTBP2:NM_001329:exon4:c.C85A:p.P29T	.	410	877	234	1	0	236	0.118593	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.847	0.176108028638	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.78490	D	0.025	0.64786	D	0.948	0.61912	P	0.514	0.56676	P	0.000117	0.50451	D	0.214717	1	0.81001	D	2.215	0.62545	M	-2.13	0.86349	D	-6.05	0.89796	D	0.689	0.82559	0.518	0.90792	D	0.688	0.89243	D	10	0.8365156	0.82808	D	0.176108	0.85198	D	0.847	0.95249	0.689	0.82653	0.928801495259	0.92807	0.9831479306831125	0.98306	2.09264733632	0.94735	0.676425933838	0.63756	T	0.542494	0.84360	D	0.336779	0.85619	D	0.245983	0.85429	D	0.99172455072403	0.82061	D	0.955104	0.83186	D	0.7142099	0.78840	0.5802387	0.75671	0.7142099	0.78841	0.5802387	0.75672	-5.592	0.70616	T	.	.	0.756	0.75321	P	.;.;.;.;.;.	.;.;.;.;.;.	5.016100	0.83334	28.0	0.99771334295315606	0.85918	0.97924	0.78163	D	AEFDBHCI	0.917308	0.88472	D	0.627757786435649	0.74937	6.218313	0.643900769394684	0.78156	6.820169	0.999999999980549	0.74766	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	4.72	0.59248	9.883000	0.98528	11.568000	0.93268	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.050	0.89270	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4167	572.04	49	chr10	125003466	.	G	T	572.04	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-0.115;DP=368;ExcessHet=6.1542;FS=7.971;MLEAC=5;MLEAF=0.417;MQ=58.91;MQRankSum=-7.549;QD=2.01;ReadPosRankSum=-0.536;SOR=1.323	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:37,5:42:99:0|1:125003425_G_C:99,0,1539:125003425	1	0	5	1
chr10	125003468	125003468	C	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.G287T:p.G96V,CTBP2:NM_022802:exon2:c.G1703T:p.G568V,CTBP2:NM_001321013:exon3:c.G83T:p.G28V,CTBP2:NM_001083914:exon4:c.G83T:p.G28V,CTBP2:NM_001290214:exon4:c.G83T:p.G28V,CTBP2:NM_001290215:exon4:c.G83T:p.G28V,CTBP2:NM_001321012:exon4:c.G83T:p.G28V,CTBP2:NM_001321014:exon4:c.G83T:p.G28V,CTBP2:NM_001329:exon4:c.G83T:p.G28V	.	413	879	229	1	0	231	0.116139	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.808	0.205810925829	7.9e-05	.	9.126e-06	0	0	0	0	1.654e-05	0	0	6.5e-06	1	154602	rs368195398	7.039e-07	2.052e-06	0	1.418e-06	1.229e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.229e-05	1.315e-05	1.313e-05	1.285e-05	1.346e-05	4.831e-05	2.19e-06	8.2e-07	8.01e-06	3e-06	4.831e-05	0	0	0	0	0	0	0	0	0	0.002	0.91255	D	0.003	0.83351	D	0.758	0.56768	P	0.345	0.52270	B	0.000015	0.62929	D	0.153474	1	0.81001	D	2.215	0.62545	M	-2.07	0.87116	D	-6.7	0.93786	D	0.885	0.91162	0.404	0.89161	D	0.665	0.88381	D	10	0.9020648	0.89569	D	0.205811	0.87005	D	0.808	0.93777	.	.	0.940972417782	0.94036	0.9830957384624965	0.98301	0.580823813372	0.53909	0.771838724613	0.77700	T	0.670241	0.90204	D	0.414705	0.90739	D	0.357919	0.90623	D	0.97039270401001	0.68933	D	0.830817	0.50504	T	0.82183003	0.85343	0.73988026	0.84624	0.82183003	0.85344	0.73988026	0.84625	-14.257	0.93861	D	.	.	0.903	0.82932	P	.;.;.;.;.;.	.;.;.;.;.;.	5.052849	0.84171	28.2	0.99572167466560413	0.72440	0.94853	0.62557	D	AEFDBHCI	0.865967	0.78524	D	0.502445831928042	0.67234	5.054572	0.519224250986091	0.69285	5.338541	0.999999999980549	0.74766	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	4.72	0.59248	4.865000	0.62695	5.821000	0.50083	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	18.050	0.89270	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4167	569.04	51	chr10	125003468	.	C	A	569.04	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-0.798;DP=359;ExcessHet=6.1542;FS=10.58;MLEAC=5;MLEAF=0.417;MQ=58.82;MQRankSum=-7.616;QD=1.99;ReadPosRankSum=-0.893;SOR=1.626	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:37,5:42:99:0|1:125003425_G_C:99,0,1539:125003425	1	0	5	1
chr10	125003470	125003470	G	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.C285A:p.N95K,CTBP2:NM_022802:exon2:c.C1701A:p.N567K,CTBP2:NM_001321013:exon3:c.C81A:p.N27K,CTBP2:NM_001083914:exon4:c.C81A:p.N27K,CTBP2:NM_001290214:exon4:c.C81A:p.N27K,CTBP2:NM_001290215:exon4:c.C81A:p.N27K,CTBP2:NM_001321012:exon4:c.C81A:p.N27K,CTBP2:NM_001321014:exon4:c.C81A:p.N27K,CTBP2:NM_001329:exon4:c.C81A:p.N27K	.	414	877	230	1	0	232	0.116818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.443	0.196846434944	.	.	.	.	.	.	.	.	.	.	.	.	.	rs797010536	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.53172	T	0.133	0.38160	T	0.024	0.52359	B	0.023	0.49136	B	0.000107	0.50451	N	0.228572	0.999907	0.50806	D	0.84	0.21119	L	-1.74	0.85173	D	-4.45	0.77717	D	0.707	0.80572	-0.1451	0.79039	T	0.509	0.81527	D	10	0.6498769	0.69541	D	0.196846	0.86503	D	0.443	0.74588	0.388	0.40951	0.817883718107	0.81616	0.9725668737270228	0.97245	0.555298206099	0.52229	0.665825009346	0.62241	T	0.506962	0.82492	D	0.0861848	0.62758	D	-0.113978	0.62294	T	0.98187917470932	0.74162	D	0.883312	0.60567	D	0.2881824	0.51823	0.250968	0.50698	0.2881824	0.51823	0.250968	0.50697	-15.247	0.96521	D	.	.	0.973	0.89808	P	.;.;.;.;.;.	.;.;.;.;.;.	4.647796	0.74053	26.1	0.9874692024541335	0.45587	0.88075	0.47847	D	AEFDBHCI	0.574998	0.57756	D	-0.046368544377228	0.39764	2.350313	0.00799731341758868	0.40086	2.38672	0.999998763134182	0.74766	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	2.83	0.32150	1.613000	0.36512	7.263000	0.57966	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.1598:0.0:0.6829:0.1573	5.756	0.17440	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4167	560.04	50	chr10	125003470	.	G	T	560.04	.	AC=5;AF=0.417;AN=12;BaseQRankSum=0.632;DP=353;ExcessHet=6.1542;FS=9.008;MLEAC=5;MLEAF=0.417;MQ=58.84;MQRankSum=-7.514;QD=2.04;ReadPosRankSum=-0.874;SOR=1.456	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:36,4:40:60:0|1:125003425_G_C:60,0,1500:125003425	1	0	5	1
chr10	125039033	125039033	T	A	exonic	CTBP2	.	stopgain	CTBP2:NM_001321013:exon2:c.A22T:p.K8X,CTBP2:NM_001083914:exon3:c.A22T:p.K8X,CTBP2:NM_001290214:exon3:c.A22T:p.K8X,CTBP2:NM_001290215:exon3:c.A22T:p.K8X,CTBP2:NM_001321012:exon3:c.A22T:p.K8X,CTBP2:NM_001321014:exon3:c.A22T:p.K8X,CTBP2:NM_001329:exon3:c.A22T:p.K8X	.	432	1023	67	0	0	67	0.0317085	.	.	.	1330655	not_specified|Pulmonary_artery_atresia	MedGen:CN169374|Human_Phenotype_Ontology:HP:0004935,MedGen:C0265908	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	.	1.651e-05	9.626e-05	0	0	0	1.501e-05	0	0	0.0001537	4	26028	rs76555439	6.847e-07	2.257e-05	1.363e-06	0	.	0	0	.	.	0	0	0	0	1.872e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.903	0.90363	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47795	0.93627	D	0.448766	0.93547	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	9.829600	0.99355	43	0.99586803091769216	0.73336	0.87743	0.47386	D	AEFGBHCI	0.077324	0.15576	N	0.854919915911592	0.89387	9.950527	0.733718632913773	0.84935	8.434	0.999999999999905	0.74766	0.645754	0.44609	0	0.627178	0.54094	0	0.696144	0.63334	0	0.711	0.71501	0	.	.	5.28	5.28	0.74118	4.878000	0.62786	7.743000	0.68032	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	13.948	0.63611	877	0.30165	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.2857	559.84	107	chr10	125039033	.	T	A	559.84	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-2.429;DP=535;ExcessHet=2.5225;FS=0;MLEAC=4;MLEAF=0.286;MQ=58.53;MQRankSum=-9.804;QD=1.29;ReadPosRankSum=-0.327;SOR=0.609	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:62,5:67:23:0|1:125039033_T_A:23,0,2563:125039033	3	0	4	0
chr10	125039035	125039035	T	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001321013:exon2:c.A20G:p.H7R,CTBP2:NM_001083914:exon3:c.A20G:p.H7R,CTBP2:NM_001290214:exon3:c.A20G:p.H7R,CTBP2:NM_001290215:exon3:c.A20G:p.H7R,CTBP2:NM_001321012:exon3:c.A20G:p.H7R,CTBP2:NM_001321014:exon3:c.A20G:p.H7R,CTBP2:NM_001329:exon3:c.A20G:p.H7R	.	434	1022	66	0	0	66	0.0312796	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.314	0.0169483827955	.	.	1.651e-05	9.626e-05	0	0	0	1.501e-05	0	0	0.0001921	5	26028	rs78849795	6.847e-07	2.257e-05	1.363e-06	0	.	0	0	.	.	0	0	0	0	1.872e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	0.15509	T	0.911	0.02952	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	0.976171	0.25390	N	1.155	0.29575	L	-1.53	0.81559	D	-0.28	0.11547	N	0.556	0.58117	-0.7162	0.59649	T	0.384	0.73988	T	9	0.2395181	0.41094	T	0.016948	0.38442	T	0.314	0.63588	0.302	0.27003	0.989459454501	0.98934	.	.	.	.	.	.	.	0.157543	0.50018	T	0.164577	0.70624	D	-0.00137324	0.70247	D	0.378074373079758	0.28108	T	0.886111	0.61235	D	0.15569115	0.35175	0.15271002	0.35916	0.15569115	0.35174	0.15271002	0.35915	-2.736	0.07610	T	.	.	0.160	0.48978	B	.;.;.;.	.;.;.;.	3.581586	0.50496	23.0	0.96844956273467708	0.31320	0.86671	0.46001	D	AEFGBHCI	0.757168	0.69621	D	-0.0152146198236119	0.41167	2.457583	0.165997750048251	0.47996	3.021633	0.999999999999905	0.74766	0.645754	0.44609	0	0.60822	0.50512	0	0.696144	0.63334	0	0.711	0.71501	0	.	.	5.28	5.28	0.74118	4.878000	0.62786	7.749000	0.68113	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	13.948	0.63611	877	0.30165	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2857	559.84	107	chr10	125039035	.	T	C	559.84	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-2.575;DP=527;ExcessHet=2.5225;FS=0;MLEAC=4;MLEAF=0.286;MQ=58.5;MQRankSum=-9.804;QD=1.29;ReadPosRankSum=-0.048;SOR=0.609	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:62,5:67:23:0|1:125039033_T_A:23,0,2563:125039033	3	0	4	0
chr10	126504376	126504376	A	G	exonic	C10orf90	.	nonsynonymous SNV	C10orf90:NM_001004298:exon3:c.T824C:p.I275T,C10orf90:NM_001350921:exon4:c.T1115C:p.I372T,C10orf90:NM_001350922:exon4:c.T1115C:p.I372T,C10orf90:NM_001350923:exon4:c.T1115C:p.I372T	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	0.0108829565352	7.7e-05	.	1.647e-05	0	0	0	0	2.997e-05	0	0	1.29e-05	2	154602	rs377632627	8.209e-06	8.209e-06	1.089e-05	5.5e-06	0.0002	4.38e-06	3.46e-06	2.62e-06	1.68e-06	2.987e-05	0	0	0	0	0.0002	6.295e-06	4.967e-05	0	6.571e-06	6.566e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.008	0.58626	D	0.026	0.56192	D	0.013	0.16609	B	0.013	0.16460	B	0.010500	0.01277	N	2.462730	1	0.08975	N	1.15	0.29295	L	1.97	0.22067	T	-0.68	0.22727	N	0.299	0.34874	-1.0158	0.25078	T	0.061	0.25635	T	10	0.067527086	0.09421	T	0.010883	0.27915	T	0.068	0.19811	.	.	0.107399877778	0.10242	0.24000607798377072	0.23914	0.114228325199	0.12879	.	.	.	0.093493	0.42537	T	-0.364113	0.03903	T	-0.653142	0.08735	T	0.0757102337677171	0.09430	T	0.447355	0.12562	T	0.06332164	0.13322	0.047479544	0.06847	0.06332164	0.13322	0.047479544	0.06847	-2.199	0.04035	T	.	.	0.080	0.17445	B	.;.;.	.;.;.	1.177069	0.15673	12.02	0.69566592272239725	0.09013	0.06508	0.12519	N	ALL	0.109797	0.21796	N	-1.1407539030112	0.05933	0.2718296	-1.1991941234995	0.05924	0.2836599	0.999999246565619	0.74766	0.525926	0.21836	0	0.615948	0.52940	0	0.505578	0.09266	0	0.691587	0.68394	0	.	.	5.26	-1.27	0.08863	2.113000	0.41525	0.383000	0.17802	-0.576000	0.04747	0.004000	0.16614	0.000000	0.08366	0.000000	0.00833	0.5563:0.1408:0.3029:0.0	5.376	0.15466	609	0.67094	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1026.44	36	chr10	126504376	.	A	G	1026.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.9;DP=307;ExcessHet=0;FS=1.765;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.22;ReadPosRankSum=-0.524;SOR=0.914	GT:AD:DP:GQ:PL	0/1:44,40:84:99:1037,0,977	6	0	1	0
chr10	131166856	131166856	G	A	exonic	TCERG1L	.	nonsynonymous SNV	TCERG1L:NM_174937:exon5:c.C886T:p.R296C	.	422	1080	20	0	0	20	0.00917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	.	0.0002	0.00399361	0.0023	0.0003	0.0004	0	0	0.0004	0.0046	0.0148	0.0020828	322	154602	rs140533955	0.0012	0.0012	0.0007	0.0017	0.0155	0.0012	0.0012	0.0148	0.0145	0.0002	0.0003	7.652e-05	0.0001	0	0.0076	0.0003	0.0017	0.0155	0.0007	0.0007	0.0005	0.0009	0.0149	0.0006	0.0005	0.0122	0.0111	7.215e-05	0	0.0002	0	0	0	0	0.0004	0.0009	0.0149	0.125	0.27310	T	0.039	0.51112	D	0.0	0.02946	B	0.0	0.01387	B	0.676126	0.10298	N	0.835585	1	0.08975	N	-0.77	0.01674	N	1.89	0.23688	T	0.88	0.01664	N	0.154	0.15888	-1.0090	0.27230	T	0.020	0.08313	T	10	0.0048452616	0.00103	T	.	.	.	0.035	0.08770	.	.	0.0806252709748	0.07271	0.527596657307229	0.52683	0.144877207135	0.16365	0.365255862474	0.20148	T	0.001547	0.00986	T	-0.631067	0.00094	T	-0.666936	0.07806	T	0.00386785938519685	0.00041	T	0.615039	0.23503	T	0.04266499	0.06510	0.032138523	0.01904	0.04266499	0.06510	0.032138523	0.01903	-5.23	0.39245	T	.	.	0.081	0.08320	B	.	.	-0.386863	0.02263	0.233	0.8808417742267507	0.17704	0.00357	0.01833	N	AEFBI	0.031351	0.03330	N	-1.60939364842222	0.01218	0.05297706	-1.69043314844492	0.01180	0.05311048	0.337431296324123	0.19549	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	2.4	-4.8	0.02957	-0.954000	0.03983	-0.952000	0.06810	-0.633000	0.04490	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.6124:0.1645:0.2231:0.0	5.700	0.17150	984	0.02857	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004532	0.005051	0.000000	0.005848	0.000000	0.000000	0.003049	0.015152	0.1429	1800.24	90	chr10	131166856	.	G	A	1800.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.689;DP=313;ExcessHet=0.3476;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=11.84;ReadPosRankSum=1.64;SOR=0.643	GT:AD:DP:GQ:PL	0/1:37,25:62:99:571,0,894	5	0	2	0
chr11	1016754	1016754	A	G	exonic	MUC6	.	nonsynonymous SNV	MUC6:NM_005961:exon31:c.T6047C:p.L2016S	.	326	1191	4	1	0	6	0.00251256	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.00122751741629	.	.	0.0001	0	0.0004	0.0002	0.0002	8.991e-05	0	0	9.06e-05	14	154602	rs765235657	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	1.344e-05	0.0033	0	2.758e-05	6.77e-05	2.23e-06	8.4e-07	.	.	0	0	6.77e-05	0	0	0	0	1.505e-05	0	0	0.72	0.03926	T	0.773	0.04431	T	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	-0.49	0.02651	N	2.5	0.14408	T	1.54	0.00702	N	0.035	0.01004	-0.9221	0.45265	T	0.007	0.02244	T	9	0.018025696	0.00389	T	0.001228	0.01633	T	0.010	0.01040	.	.	0.119812018005	0.11559	0.07226537620689691	0.07163	0.404426802055	0.41344	0.160760015249	0.00011	T	0.010105	0.09154	T	-0.421762	0.01667	T	-0.843608	0.01046	T	0.031014709657127	0.02148	T	.	.	.	0.027541755	0.01962	0.037763994	0.03500	0.027541755	0.01961	0.037763994	0.03500	-7.298	0.56181	T	.	.	0.065	0.01960	B	.	.	0.821211	0.11926	8.487	0.68619141914431547	0.08714	0.00225	0.01265	N	AEFDGBCI	0.016805	0.00401	N	-1.72405579209422	0.00760	0.03281666	-1.67379838365755	0.01258	0.05669341	0.99998905767838	0.51787	0.751926	0.98777	0	0.639134	0.57113	0	0.0	0.00061	3	0.264475	0.05362	3	.	.	2.8	-1.39	0.08526	-0.048000	0.11898	0.011000	0.13441	-0.745000	0.03636	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.2589:0.1879:0.5532:0.0	4.421	0.10908	830	0.39242	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	318.44	550	chr11	1016754	.	A	G	318.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.27;DP=3728;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=55.1;MQRankSum=-7.765;QD=1.04;ReadPosRankSum=-1.545;SOR=0.708	GT:AD:DP:GQ:PL	0/1:277,29:306:99:329,0,11381	6	0	1	0
chr11	1016881	1016881	C	T	exonic	MUC6	.	nonsynonymous SNV	MUC6:NM_005961:exon31:c.G5920A:p.G1974R	.	282	1233	6	1	0	8	0.00323363	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.00103325632618	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1282982114	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.019	0.50132	D	0.126	0.35205	T	0.239	0.30839	B	0.114	0.31755	B	.	.	.	.	1	0.08975	N	1.7	0.43825	L	2.27	0.17431	T	-1.05	0.27463	N	0.078	0.05287	-0.9842	0.34022	T	0.026	0.11220	T	9	0.06405285	0.08436	T	0.001033	0.01144	T	0.036	0.09122	0.338	0.32816	0.192905019026	0.18896	0.14932920051736123	0.14854	0.521877933732	0.49939	0.205686062574	0.00641	T	0.030745	0.21720	T	-0.30016	0.08644	T	-0.668936	0.07676	T	0.149228978490301	0.17042	T	.	.	.	0.11304487	0.26702	0.06163316	0.11934	0.11304487	0.26702	0.06163316	0.11933	-7.981	0.60941	D	.	.	0.118	0.23952	B	.	.	1.233689	0.16288	12.44	0.76633010661181944	0.11547	0.03963	0.09370	N	AEFDGBCI	0.041382	0.06283	N	-1.28708027589074	0.03830	0.1718021	-1.45389755068842	0.02735	0.1263413	0.999999866413803	0.74766	0.675202	0.55065	0	0.639134	0.57113	0	0.67197	0.60751	0	0.264475	0.05362	3	.	.	2.03	-4.06	0.03718	-0.118000	0.10665	0.000000	0.13247	0.545000	0.25583	0.000000	0.06391	0.011000	0.20116	0.001000	0.02609	0.1633:0.5026:0.3341:0.0	7.679	0.27672	830	0.39242	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	154.44	525	chr11	1016881	.	C	T	154.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.41;DP=4336;ExcessHet=0;FS=4.255;MLEAC=1;MLEAF=0.071;MQ=56.36;MQRankSum=-6.023;QD=0.56;ReadPosRankSum=-2.181;SOR=1.025	GT:AD:DP:GQ:PL	0/1:252,22:274:99:165,0,10515	6	0	1	0
chr11	1017757	1017757	G	C	exonic	MUC6	.	nonsynonymous SNV	MUC6:NM_005961:exon31:c.C5044G:p.L1682V	.	345	982	192	1	2	196	0.0898981	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.00213510693467	.	.	.	.	.	.	.	.	.	.	.	.	.	rs79198757	6.983e-07	1.574e-05	1.388e-06	0	9.14e-07	0	0	.	.	0	0	0	0	0	0	9.14e-07	0	0	0	0.0009	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.075	0.34444	T	0.44	0.13328	T	0.007	0.14184	B	0.007	0.12992	B	.	.	.	.	1	0.08975	N	0.895	0.22405	L	2.24	0.17923	T	0.08	0.06026	N	0.032	0.00825	-0.9478	0.41347	T	0.018	0.07423	T	9	0.05399272	0.05679	T	0.002135	0.03962	T	0.006	0.00375	.	.	0.163833314356	0.15978	0.06941283035713278	0.06879	0.0894955809572	0.10113	0.175648033619	0.00060	T	0.020274	0.15991	T	-0.266298	0.12172	T	-0.620295	0.11162	T	0.144849189737094	0.16686	T	.	.	.	0.04678791	0.07891	0.073207155	0.15881	0.04678791	0.07891	0.073207155	0.15881	-7.088	0.54674	T	.	.	0.071	0.03773	B	.	.	0.537745	0.09066	5.846	0.27983464666671348	0.01415	0.06097	0.12072	N	AEFDGBCI	0.029553	0.02811	N	-1.28891088933583	0.03808	0.170769	-1.35273483076499	0.03774	0.1767243	0.999986779026299	0.51787	0.004792	0.00041	3	0.008208	0.00037	3	0.634913	0.45138	1	0.264475	0.05362	3	.	.	1.79	-0.615	0.11005	0.197000	0.16999	-5.159000	0.01826	0.526000	0.24426	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.0:0.4083:0.5917	5.758	0.17453	825	0.40060	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	2243.08	863	chr11	1017757	.	G	C	2243.08	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.724;DP=4798;ExcessHet=1.1394;FS=1.65;MLEAC=2;MLEAF=0.167;MQ=57.61;MQRankSum=-12.36;QD=1.73;ReadPosRankSum=1.66;SOR=0.953	GT:AD:DP:GQ:PL	0/1:343,26:385:57:57,0,14291	4	0	2	1
chr11	1018228	1018228	G	0	exonic	MUC6	.	.	.	.	413	954	154	0	1	155	0.0746848	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	260.59	117	chr11	1018228	.	G	*	260.59	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.89;DP=1044;ExcessHet=2.5225;FS=20.798;MLEAC=2;MLEAF=0.167;MQ=56.67;MQRankSum=-5.217;QD=0.45;ReadPosRankSum=-0.817;SOR=2.571	GT:AD:DP:GQ:PL	0/1:72,6:81:35:35,0,3005	4	0	2	1
chr11	1096086	1096086	G	0	exonic	MUC2	.	.	.	.	566	673	252	7	24	290	0.165012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	1817.09	320	chr11	1096086	.	G	*	1817.09	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.213;DP=2219;ExcessHet=0;FS=0.559;MLEAC=1;MLEAF=0.083;MQ=56.43;MQRankSum=0.633;QD=3.69;ReadPosRankSum=1.52;SOR=0.635	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:2,47:49:17:0|1:1096086_G_*:1521,17,2953:1096086	5	0	1	1
chr11	1096123	1096123	C	0	exonic	MUC2	.	.	.	.	478	865	169	4	6	183	0.0928159	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	260.38	352	chr11	1096123	.	C	*	260.38	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.689;DP=2548;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=54.48;MQRankSum=0.448;QD=4.65;ReadPosRankSum=0.202;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:2,47:56:99:0|1:1096086_G_*:1734,273,3709:1096086	5	0	1	1
chr11	1096140	1096140	C	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	470.58	352	chr11	1096140	.	C	*	470.58	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.129;DP=2556;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=55.25;MQRankSum=0.54;QD=7.02;ReadPosRankSum=-1.235;SOR=0.854	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:2,47:67:99:0|1:1096086_G_*:1916,484,4119:1096086	6	0	1	0
chr11	1096140	1096140	-	AT	exonic	MUC2	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0007	0.0002	0.0002	0.0002	0.0002	0.0001	0.0002	0.0002	6.707e-05	3.157e-05	0.0002	0	0.0004	0.0002	0.0002	0.0002	1.361e-05	0.0002	0.0006	0.0001	0.0002	0.0004	0.0001	9.498e-05	0.0002	0.0001	4.865e-05	0	0.0004	0	0	0.0002	0	0.0002	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	470.58	352	chr11	1096140	.	C	CAT	470.58	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.129;DP=2556;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=55.25;MQRankSum=0.54;QD=7.02;ReadPosRankSum=-1.235;SOR=0.854	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:2,18:67:99:0|1:1096086_G_*:1916,1481,1636:1096086	6	0	1	0
chr11	1096141	1096168	CCTGACACCCATCACCACCACCACTACG	0	exonic	MUC2	.	.	.	.	463	999	52	0	8	60	0.0253659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	6907.58	430	chr11	1096141	.	CCTGACACCCATCACCACCACCACTACG	*	6907.58	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.08;DP=2636;ExcessHet=0;FS=0.518;MLEAC=1;MLEAF=0.071;MQ=57.13;MQRankSum=0.553;QD=13.87;ReadPosRankSum=1.51;SOR=0.716	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:2,48:68:99:0|1:1096086_G_*:1953,484,4116:1096086	6	0	1	0
chr11	1096142	1096143	CT	-	exonic	MUC2	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0007	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	3.152e-05	0.0001	0	0.0005	0.0002	0.0002	0.0003	2.72e-05	0.0002	0.0007	0.0002	0.0002	0.0004	0.0001	0.0001	0.0002	0.0001	7.632e-05	0	0.0004	0	0.0002	0.0002	0	0.0002	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	6907.58	430	chr11	1096141	.	CCT	C	6907.58	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.08;DP=2636;ExcessHet=0;FS=0.518;MLEAC=1;MLEAF=0.071;MQ=57.13;MQRankSum=0.553;QD=13.87;ReadPosRankSum=1.51;SOR=0.716	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:2,18:68:99:0|1:1096086_G_*:1953,1520,1678:1096086	6	0	1	0
chr11	1096143	1096212	TGACACCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC	0	exonic	MUC2	.	.	.	.	508	767	11	0	236	247	0.00711974	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	6291.69	430	chr11	1096143	.	TGACACCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC	*	6291.69	.	AC=3;AF=0.214;AN=14;BaseQRankSum=2.25;DP=3158;ExcessHet=1.4958;FS=0;MLEAC=3;MLEAF=0.214;MQ=57.38;MQRankSum=-0.691;QD=3.77;ReadPosRankSum=-0.569;SOR=0.675	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:2,114:117:99:.:.:5242,423,0:.	5	1	1	0
chr11	1096155	1096155	C	G	exonic	MUC2	.	unknown	UNKNOWN	.	456	828	3	1	234	239	0.00301023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1362776823	0.0019	0.0052	0.0019	0.0019	0.0094	0.0018	0.0018	0.0083	0.0079	0.0094	0.0017	0.0027	6.019e-05	0.0067	0.0025	0.0016	0.0033	0.0002	0.0022	0.0038	0.0019	0.0025	0.0061	0.0020	0.0019	0.0054	0.0051	0.0061	0	0.0010	0.0004	0	0.0006	0	0.0006	0.0032	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	976.35	430	chr11	1096155	.	C	G	976.35	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.973;DP=2845;ExcessHet=4.7409;FS=0;MLEAC=1;MLEAF=0.083;MQ=55.48;MQRankSum=2.2;QD=0.6;ReadPosRankSum=-3.121;SOR=0.712	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:59,27:87:99:0|1:1096086_G_*:1539,0,2272:1096086	5	0	1	1
chr11	1096181	1096181	C	G	exonic	MUC2	.	unknown	UNKNOWN	.	514	824	9	0	175	184	0.0054315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0024	0.0051	0.0024	0.0025	0.0031	0.0023	0.0023	0.0022	0.0022	0.0004	0.0017	0.0035	0	0.0156	0.0031	0.0023	0.0036	0.0004	0.0006	0.0013	0.0007	0.0006	0.0010	0.0005	0.0005	0.0008	0.0007	5.841e-05	0	0.0007	0.0008	0	0.0011	0	0.0010	0.0012	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.125	1225.3	418	chr11	1096181	.	C	G	1225.3	.	AC=1;AF=0.125;AN=8;BaseQRankSum=-1.921;DP=2165;ExcessHet=1.1394;FS=0;MLEAC=1;MLEAF=0.125;MQ=55.47;MQRankSum=1.49;QD=1.52;ReadPosRankSum=0.406;SOR=0.643	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:76,43:120:99:0|1:1096086_G_*:2483,0,2937:1096086	3	0	1	3
chr11	1096212	1096212	C	T	exonic	MUC2	.	unknown	UNKNOWN	.	603	738	12	0	169	181	0.00806452	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1400696229	0.0042	0.0094	0.0040	0.0044	0.0105	0.0040	0.0039	0.0063	0.0057	0.0078	0.0031	0.0092	0.0039	0.0418	0.0105	0.0037	0.0060	0.0014	0.0038	0.0063	0.0033	0.0042	0.0040	0.0032	0.0030	0.0032	0.0029	0.0039	0	0.0038	0.0018	0.0024	0.0035	0	0.0040	0.0049	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	1143.97	347	chr11	1096212	.	C	T	1143.97	.	AC=1;AF=0.167;AN=6;BaseQRankSum=2.57;DP=2166;ExcessHet=1.383;FS=1.392;MLEAC=1;MLEAF=0.167;MQ=57.51;MQRankSum=0.19;QD=1.26;ReadPosRankSum=6.99;SOR=0.85	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:90,43:134:99:0|1:1096086_G_*:2430,0,3560:1096086	2	0	1	4
chr11	1097520	1097520	T	G	exonic	MUC2	.	unknown	UNKNOWN	.	651	838	24	1	8	34	0.0152761	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1394082476	0.0051	0.0082	0.0050	0.0051	0.0055	0.0050	0.0049	0.0054	0.0053	0.0004	0.0026	0.0043	0	0.0160	0.0044	0.0055	0.0050	0.0016	0.0028	0.0060	0.0027	0.0030	0.0046	0.0025	0.0024	0.0040	0.0037	0.0005	0	0.0009	0.0038	0	0.0104	0	0.0046	0.0071	0.0014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	231.23	113	chr11	1097520	.	T	G	231.23	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.794;DP=964;ExcessHet=0;FS=2.787;MLEAC=1;MLEAF=0.083;MQ=39.08;MQRankSum=-1.222;QD=4.45;ReadPosRankSum=-2.093;SOR=1.332	GT:AD:DP:GQ:PL	0/1:37,15:52:99:241,0,790	5	0	1	1
chr11	1098538	1098538	T	C	exonic	MUC2	.	unknown	UNKNOWN	.	674	844	4	0	0	4	0.00236407	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1169334096	0.0032	0.0055	0.0033	0.0031	0.0031	0.0031	0.0030	0.0030	0.0029	0.0010	0.0019	0.0052	0.0011	0.0223	0.0025	0.0031	0.0044	0.0012	0.0150	0.0054	0.0122	0.0179	0.0232	0.0120	0.0110	0.0178	0.0159	0.0027	0	0.0049	0.0104	0.0053	0.0249	0.1000	0.0232	0.0323	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	136.11	46	chr11	1098538	.	T	C	136.11	.	AC=1;AF=0.1;AN=10;BaseQRankSum=6.6;DP=762;ExcessHet=0;FS=25.461;MLEAC=1;MLEAF=0.1;MQ=43.6;MQRankSum=-3.562;QD=1.39;ReadPosRankSum=-1.984;SOR=4.774	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:86,12:98:99:0|1:1098538_T_C:145,0,1937:1098538	4	0	1	2
chr11	1098628	1098628	C	G	exonic	MUC2	.	unknown	UNKNOWN	.	567	933	22	0	0	22	0.0116525	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1356651919	0.0006	0.0088	0.0006	0.0006	0.0006	0.0006	0.0005	0.0005	0.0005	0.0003	0.0003	0.0007	0.0002	0.0028	0	0.0006	0.0007	0.0002	0.0023	0.0060	0.0021	0.0026	0.0035	0.0021	0.0020	0.0030	0.0028	0.0006	0.0051	0.0018	0.0018	0.0003	0.0067	0.0088	0.0035	0	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	640.44	152	chr11	1098628	.	C	G	640.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.11;DP=1065;ExcessHet=0;FS=13.374;MLEAC=1;MLEAF=0.071;MQ=49.67;MQRankSum=-2.38;QD=3.09;ReadPosRankSum=1.77;SOR=1.847	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:177,30:207:99:1|0:1098538_T_C:651,0,6955:1098538	6	0	1	0
chr11	1099366	1099366	T	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	4395.55	250	chr11	1099366	.	T	*	4395.55	.	AC=1;AF=0.167;AN=6;BaseQRankSum=-0.377;DP=1918;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.167;MQ=52.51;MQRankSum=-0.714;QD=14.18;ReadPosRankSum=1.71;SOR=0.711	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,116:130:99:1|0:1099365_TTGACGCCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCC_T:3695,658,345:1099365	2	0	1	4
chr11	1099370	1099370	G	0	exonic	MUC2	.	.	.	.	923	13	249	324	13	910	0.971831	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	25726.7	156	chr11	1099370	.	G	*	25726.7	.	AC=2;AF=0.143;AN=14;BaseQRankSum=2.01;DP=2119;ExcessHet=0;FS=3.076;MLEAC=2;MLEAF=0.143;MQ=53.75;MQRankSum=-0.369;QD=19.64;ReadPosRankSum=0.446;SOR=0.112	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,116:133:99:1|0:1099365_TTGACGCCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCC_T:3768,767,466:1099365	5	0	2	0
chr11	1190887	1190887	A	T	exonic	MUC5AC	.	nonsynonymous SNV	MUC5AC:NM_001304359:exon31:c.A12742T:p.S4248C	.	433	1077	9	0	3	12	0.00416089	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1303560220	0.0025	0.0025	0.0027	0.0025	0.0087	0.0024	0.0024	0.0065	0.0057	0.0064	0.0030	0.0049	0	0.0025	0.0087	0.0026	0.0043	0.0005	0.0037	0.0037	0.0036	0.0039	0.0063	0.0035	0.0034	0.0056	0.0054	0.0063	0	0.0030	0.0043	0	0.0035	0.0034	0.0029	0.0057	0	.	.	.	0.038	0.51421	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	0.11054	.	.	.	.	.	.	.	0.025472552	0.00740	T	.	.	.	.	.	.	.	.	.	0.10923388347606139	0.10852	.	.	.	.	.	0.046619	0.27479	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-10.433	0.76461	D	.	.	0.352	0.56683	A	.	.	1.543506	0.19791	14.44	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.222000	0.42568	-0.451000	0.09099	0.350000	0.19923	0.026000	0.20160	0.004000	0.18990	0.002000	0.04165	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	5269.44	494	chr11	1190887	.	A	T	5269.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.612;DP=2577;ExcessHet=0;FS=1.741;MLEAC=1;MLEAF=0.071;MQ=59.91;MQRankSum=1.7;QD=12;ReadPosRankSum=0.719;SOR=0.593	GT:AD:DP:GQ:PL	0/1:224,215:439:99:5280,0,5698	6	0	1	0
chr11	1192300	1192300	G	A	exonic	MUC5AC	.	nonsynonymous SNV	MUC5AC:NM_001304359:exon31:c.G14155A:p.E4719K	.	416	1096	10	0	0	10	0.00454133	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00339457	0.0022	0.0059	0.0017	0.0001	0.0021	0.0024	0.0035	0.0007	0.0003493	54	154602	rs1256603257	0.0026	0.0025	0.0027	0.0025	0.0087	0.0025	0.0024	0.0064	0.0057	0.0064	0.0028	0.0055	0	0.0024	0.0087	0.0026	0.0043	0.0005	0.0037	0.0038	0.0036	0.0038	0.0062	0.0035	0.0034	0.0056	0.0054	0.0062	0	0.0030	0.0049	0	0.0034	0.0034	0.0029	0.0057	0	.	.	.	0.461	0.12562	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.264	0.29889	.	.	.	.	.	.	.	0.0054558814	0.00120	T	.	.	.	.	.	.	.	0.394079506076	0.39022	0.8685077869553766	0.86815	.	.	.	.	.	0.063583	0.32212	T	-0.289535	0.09682	T	-0.653673	0.08699	T	.	.	.	.	.	.	0.029983448	0.02583	0.08887649	0.20749	0.029983448	0.02582	0.08887649	0.20748	-9.334	0.69821	D	.	.	0.330	0.55243	B	.	.	-0.625630	0.01504	0.095	0.8504754876984395	0.15653	0.11119	0.16420	N	AEFDGBCI	.	.	.	.	.	.	.	.	.	0.995522395801278	0.34175	0.067872	0.01466	2	0.086529	0.02451	2	0.05767	0.00357	2	0.083433	0.02327	0	0.0643366	0.15391	4.94	-3.43	0.04507	-4.239000	0.00305	-20.000000	0.00162	-2.439000	0.00283	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.2527:0.2696:0.3803:0.0974	2.747	0.04944	.	.	WxxW domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1881.44	40	chr11	1192300	.	G	A	1881.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.02;DP=349;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=59.96;MQRankSum=0.104;QD=13.73;ReadPosRankSum=2.53;SOR=0.713	GT:AD:DP:GQ:PL	0/1:64,73:137:99:1892,0,1514	6	0	1	0
chr11	1243062	1243062	C	G	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon31:c.C6182G:p.A2061G	.	424	926	82	2	88	174	0.0443756	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	.	.	0.00898562	0.0119	0.0017	0.0069	0.0002	0.0003	0.0111	0.0237	0.0347	0.0008732	135	154602	rs61997210	0.0093	0.0093	0.0083	0.0104	0.0494	0.0092	0.0091	0.0446	0.0428	0.0019	0.0074	0.0427	0.0001	0.0007	0.0494	0.0071	0.0130	0.0357	0.0074	0.0074	0.0071	0.0078	0.0282	0.0071	0.0069	0.0243	0.0229	0.0017	0.0033	0.0098	0.0383	0.0002	0.0007	0.0884	0.0084	0.0142	0.0282	0.063	0.36709	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	2.34	0.67151	M	2.26	0.17596	T	-0.93	0.24898	N	0.038	0.01203	-0.9838	0.34116	T	0.040	0.17191	T	9	0.003387034	0.00059	T	.	.	.	0.030	0.07022	.	.	.	.	0.11933029641628383	0.11860	.	.	0.172272831202	0.00042	T	0.022813	0.17520	T	-0.712371	0.00031	T	-0.770285	0.02758	T	0.00459172025389433	0.00049	T	0.618038	0.23687	T	0.04650555	0.07794	0.055332977	0.09686	0.04650555	0.07793	0.055332977	0.09686	-6.395	0.49471	T	.	.	0.139	0.30318	B	.	.	-0.149876	0.03357	0.595	0.51709723328190837	0.04612	0.06366	0.12366	N	AEFI	0.107211	0.21368	N	-1.03137825171341	0.07958	0.3714802	-1.19298340184668	0.06026	0.2888513	1.82559760139279E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	1.96	-1.97	0.07091	-1.131000	0.03349	-1.620000	0.05046	-0.400000	0.05303	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1889:0.4363:0.3747:0.0	5.827	0.17816	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2143	6049.51	72	chr11	1243062	.	C	G	6049.51	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-0.975;DP=786;ExcessHet=0.4813;FS=1.752;MLEAC=3;MLEAF=0.214;MQ=50.49;MQRankSum=-0.847;QD=10.75;ReadPosRankSum=0.353;SOR=0.644	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:59,37:96:99:.:.:809,0,1553:.	5	1	1	0
chr11	1244136	1244136	C	A	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon31:c.C7256A:p.A2419D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.00228641545926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.368e-06	2.724e-06	0	2.988e-05	2.3e-07	9e-08	.	.	2.988e-05	0	0	0	0	0	8.995e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	0.49613	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	2.125	0.59049	M	2.25	0.17761	T	-1.0	0.26422	N	0.125	0.11769	-1.0457	0.15621	T	0.036	0.15378	T	9	0.15801567	0.29724	T	0.002286	0.04369	T	0.028	0.06331	.	.	0.043077524339	0.03247	0.2442552270646657	0.24339	.	.	0.226853474975	0.01743	T	0.021035	0.16455	T	-0.335186	0.05728	T	-0.719248	0.04832	T	0.13881369316285	0.16172	T	0.248275	0.03682	T	0.09794957	0.23097	0.08110145	0.18402	0.09794957	0.23097	0.08110145	0.18402	-9.453	0.70566	D	.	.	0.189	0.40602	B	.	.	1.231912	0.16270	12.43	0.76456723036081176	0.11475	0.00742	0.03097	N	AEFI	0.042959	0.06730	N	-0.623195295988359	0.18249	0.9459184	-0.818090486108447	0.14057	0.7325571	8.50951046026767E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	2.97	0.956	0.18731	-0.272000	0.08591	-2.286000	0.03949	0.521000	0.23867	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.5794:0.144:0.2767	5.596	0.16611	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	985.44	34	chr11	1244136	.	C	A	985.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.893;DP=293;ExcessHet=0;FS=0.807;MLEAC=1;MLEAF=0.071;MQ=52.32;MQRankSum=0.524;QD=10.6;ReadPosRankSum=-0.829;SOR=0.814	GT:AD:DP:GQ:PL	0/1:54,39:93:99:996,0,1400	6	0	1	0
chr11	1248534	1248534	G	T	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon31:c.G11654T:p.R3885L	.	419	1097	6	0	0	6	0.00272727	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.00351146321911	0.0011	0.00219649	0.0018	0.0079	0.0010	0.0001	0	0.0006	0.0011	0.0051	9.7e-05	15	154602	rs201915227	0.0010	0.0011	0.0009	0.0012	0.0081	0.0010	0.0010	0.0073	0.0070	0.0081	0.0012	0.0046	0.0003	0.0002	0.0030	0.0003	0.0020	0.0066	0.0028	0.0028	0.0026	0.0030	0.0079	0.0025	0.0025	0.0072	0.0069	0.0079	0	0.0018	0.0058	0.0002	0.0003	0	0.0003	0.0014	0.0046	0.01	0.56456	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.355	0.33814	L	1.64	0.27822	T	-1.22	0.30964	N	0.092	0.07125	-1.0378	0.17985	T	0.054	0.22770	T	9	0.0058083534	0.00130	T	0.003511	0.07969	T	0.078	0.22779	.	.	0.043077524339	0.03247	0.25239203557179385	0.25153	.	.	0.190345525742	0.00231	T	0.021462	0.16706	T	-0.69051	0.00042	T	-0.759379	0.03135	T	0.00657624414947637	0.00073	T	0.20328	0.02343	T	0.045314126	0.07395	0.0661456	0.13507	0.045314126	0.07395	0.0661456	0.13506	1.136	0.00116	T	.	.	0.133	0.28750	B	.	.	-0.474655	0.01950	0.167	0.5472700598386504	0.05196	0.00168	0.00997	N	AEFI	0.034357	0.04242	N	-1.83466044309801	0.00466	0.02004353	-2.02050203566914	0.00277	0.01222917	0.160872933525117	0.17591	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	2.76	-5.53	0.02351	-4.821000	0.00211	-9.891000	0.00764	-3.182000	0.00113	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1806:0.2765:0.3941:0.1488	2.791	0.05057	958	0.09170	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001063	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.07143	1087.44	121	chr11	1248534	.	G	T	1087.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.85;DP=948;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=56.77;MQRankSum=-5.283;QD=11.45;ReadPosRankSum=0.531;SOR=0.708	GT:AD:DP:GQ:PL	0/1:52,43:95:99:1098,0,1207	6	0	1	0
chr11	1630383	1630413	TTACTGCTGCCAGTCCAGCTGCTGTAAGCCC	0	exonic	KRTAP5-5	.	.	.	.	532	195	381	185	229	980	0.658195	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	14104.4	99	chr11	1630383	.	TTACTGCTGCCAGTCCAGCTGCTGTAAGCCC	*	14104.4	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-0.785;DP=924;ExcessHet=0.0509;FS=0.581;MLEAC=3;MLEAF=0.214;MQ=58.8;MQRankSum=-4.241;QD=20.06;ReadPosRankSum=1.56;SOR=0.638	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,73:73:99:1|1:1630355_CCTGCTGCCAGTCCAGCTGCTGTAAGCCTTA_C:2966,221,0:1630355	5	1	1	0
chr11	1956322	1956322	G	A	exonic	MRPL23	.	nonsynonymous SNV	MRPL23:NM_021134:exon5:c.G364A:p.A122T	.	428	679	340	75	0	490	0.265152	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	.	0.1153	0.142772	0.1731	0.0428	0.2377	0.1502	0.1645	0.1581	0.1944	0.2832	0.166764	25782	154602	rs12812	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.575	0.06086	T	0.592	0.08161	T	0.001	0.07471	B	0.0	0.01387	B	.	.	.	.	1	0.19781	P	0	0.06538	N	2.52	0.14160	T	-0.23	0.10656	N	0.018	0.00279	-0.9925	0.31959	T	0.000	0.00011	T	8	0.0044080913	0.00090	T	.	.	.	0.008	0.00669	.	.	.	.	0.3396820372802284	0.33881	0.158737186331	0.17918	0.323130786419	0.13895	T	3.62E-4	0.00107	T	-0.856647	0.00002	T	-0.85947	0.00848	T	0.000831064513770241	0.00008	T	0.40486	0.10377	T	0.021729477	0.00791	0.044156004	0.05659	0.021729477	0.00791	0.044156004	0.05658	-3.8	0.20805	T	.	.	0.067	0.02428	B	.;.	.;.	-0.790885	0.01125	0.052	0.76585184520990723	0.11527	0.04910	0.10661	N	AEFDBCI	0.224046	0.34832	N	-2.24886597635347	0.00060	0.002550947	-2.33368636121022	0.00056	0.002449201	0.999997702142817	0.74766	0.67177	0.52595	0	0.606735	0.50208	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	3.24	-6.48	0.01726	-1.253000	0.02987	-3.952000	0.02431	-1.233000	0.01324	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.2037:0.1638:0.4707:0.1619	3.030	0.05732	964	0.07719	.;.	.	.	.	.	rs12812	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.184290	0.131313	0.144022	0.184211	0.150000	0.232759	0.243902	0.219697	0.2143	5304.74	33	chr11	1956322	.	G	A	5304.74	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-0.957;DP=590;ExcessHet=1.1394;FS=2.427;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=11.31;ReadPosRankSum=0.206;SOR=0.555	GT:AD:DP:GQ:PL	0/1:53,48:101:99:1060,0,1165	4	0	3	0
chr11	5351792	5351792	C	G	exonic	OR51B6	.	nonsynonymous SNV	OR51B6:NM_001004750:exon1:c.C285G:p.C95W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.313	0.0559336047313	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0024	0.0093	0.0026	0.0022	0.0029	0.0023	0.0023	0.0028	0.0028	0.0027	6.717e-05	0.0009	0.0002	1.873e-05	0.0012	0.0029	0.0019	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000016	0.62929	D	0.000000	1	0.81001	D	4.81	0.99662	H	6.65	0.00510	T	-10.89	0.99244	D	0.807	0.80278	-1.1620	0.00709	T	0.013	0.05033	T	10	0.9621227	0.95635	D	0.055934	0.66418	D	0.313	0.63482	0.748	0.87905	0.527045900269	0.52351	0.471107557204946	0.47029	0.0116871865332	0.01096	0.339552879333	0.16371	T	0.119847	0.44167	T	0.113068	0.65668	D	-0.0753619	0.65240	T	0.99993371963501	0.99782	D	0.909809	0.68064	D	0.97552437	0.98751	0.92103964	0.96471	0.97552437	0.98751	0.92103964	0.96472	-8.765	0.66172	D	.	.	0.343	0.56118	A	.	.	2.116618	0.26937	17.29	0.98967027029080845	0.49442	0.39672	0.26265	N	AEFBI	0.767818	0.70356	D	0.108662788856825	0.46867	2.920579	-0.159160573312792	0.33057	1.887009	0.0102554648337644	0.11993	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.01	2.16	0.26663	-0.170000	0.09886	.	.	-1.712000	0.00741	0.001000	0.13787	0.000000	0.08366	0.014000	0.10232	0.0:0.6705:0.0:0.3295	8.371	0.31576	861	0.33516	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3	451.68	91	chr11	5351792	.	C	G	451.68	.	AC=3;AF=0.3;AN=10;BaseQRankSum=-4.374;DP=829;ExcessHet=1.383;FS=326.763;MLEAC=4;MLEAF=0.4;MQ=60;MQRankSum=0;QD=1.07;ReadPosRankSum=-0.268;SOR=9.524	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:65,20:85:99:0|1:5351789_C_G:131,0,1718:5351789	2	0	3	2
chr11	5515917	5515917	C	G	exonic	UBQLNL	.	nonsynonymous SNV	UBQLNL:NM_145053:exon1:c.G525C:p.M175I	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.0020906817126	0.0002	0.000399361	0.0003	0.0004	0	0	0	0.0003	0.0011	0.0002	0.0002717	42	154602	rs148278465	0.0005	0.0005	0.0005	0.0005	0.0006	0.0005	0.0005	0.0006	0.0005	0.0002	0.0001	0	0	0	0	0.0006	0.0004	0.0005	0.0004	0.0004	0.0005	0.0003	0.0007	0.0003	0.0003	0.0004	0.0004	0.0003	0	0.0007	0	0	0	0	0.0006	0.0014	0	1.0	0.00964	T	1.0	0.01155	T	0.002	0.09854	B	0.007	0.12992	B	0.431850	0.12738	N	0.720175	1	0.81001	D	0.505	0.13445	N	0.74	0.50459	T	-0.06	0.07882	N	0.168	0.17828	-1.0060	0.28156	T	0.050	0.21339	T	10	0.018575609	0.00405	T	0.002091	0.03855	T	0.023	0.04649	0.349	0.34598	0.15556083564	0.15200	0.3822235857994525	0.38137	0.0142987455562	0.01361	0.338753342628	0.16250	T	0.00301	0.02412	T	-0.466278	0.00897	T	-0.562614	0.16133	T	0.0093960864469409	0.00120	T	0.422258	0.11242	T	0.047996655	0.08294	0.054771096	0.09482	0.047996655	0.08294	0.054771096	0.09482	-2.236	0.04219	T	.	.	0.144	0.31832	B	.	.	-0.402852	0.02202	0.219	0.67200208002523854	0.08283	0.49547	0.28458	N	AEFBI	0.118465	0.23163	N	-0.939210328464884	0.09936	0.4725321	-0.783426087022524	0.14900	0.7810267	0.283325536064486	0.19010	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	4.87	0.57	0.16532	-0.153000	0.10130	.	.	-0.233000	0.07663	0.949000	0.33028	0.000000	0.08366	0.343000	0.25501	0.1948:0.4848:0.0:0.3204	3.302	0.06575	697	0.58201	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	867.49	68	chr11	5515917	.	C	G	867.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.83;DP=471;ExcessHet=0;FS=5.163;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.7;ReadPosRankSum=-0.359;SOR=0.297	GT:AD:DP:GQ:PL	0/1:26,33:59:99:878,0,687	6	0	1	0
chr11	6002796	6002796	A	G	exonic	OR56A4	.	nonsynonymous SNV	OR56A4:NM_001005179:exon1:c.T197C:p.L66P	.	417	1088	17	0	0	17	0.00775194	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.404	0.0150692908411	.	.	0.0007	0	0	0	0	0.0005	0.0011	0.0033	3.84e-05	1	26028	rs748520158	6.375e-05	0.0009	5.045e-05	7.719e-05	0.0005	5.305e-05	4.921e-05	0.0003	0.0003	0	2.237e-05	0.0012	0	0	0	1.35e-05	0.0001	0.0005	0.0002	0.0008	7.717e-05	0.0003	0.0010	0.0001	9.708e-05	0.0004	0.0003	2.406e-05	0	0.0001	0.0030	0	0	0	5.884e-05	0.0014	0.0010	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.986	0.76916	D	0.014745	0.28441	U	0.000000	0.999998	0.58761	D	3.84	0.95699	H	2.47	0.14783	T	-6.44	0.91353	D	0.867	0.86404	-0.7231	0.59309	T	0.177	0.52162	T	10	0.15952164	0.29970	T	0.015069	0.35586	T	0.404	0.71714	.	.	0.421184727016	0.41734	0.8943037575672179	0.89401	0.50988881724	0.49125	0.285736143589	0.08304	T	0.192068	0.54710	T	0.208508	0.74689	D	0.0617311	0.74359	D	0.586133265219808	0.35854	D	0.674733	0.28305	T	0.91616666	0.92877	0.87566775	0.93259	0.91616666	0.92879	0.87566775	0.93260	-10.804	0.78572	D	.	.	0.578	0.68805	P	.;.;.;.	.;.;.;.	4.756360	0.76857	26.6	0.99868389509597266	0.94637	0.98254	0.80969	D	AEFI	0.894836	0.83424	D	0.716542829960498	0.80716	7.356459	0.536485768151018	0.70463	5.508913	0.00208774875798834	0.09143	0.487112	0.14033	0	0.573888	0.26702	0	0.55458	0.18720	0	0.564101	0.26826	0	.	.	3.62	2.43	0.28797	7.281000	0.77985	.	.	0.756000	0.94297	0.945000	0.32849	1.000000	0.68203	0.969000	0.54022	0.8264:0.0:0.0:0.1736	8.483	0.32217	808	0.43318	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001512	0.000000	0.000000	0.000000	0.000000	0.008621	0.006098	0.000000	0.07143	202.49	33	chr11	6002796	.	A	G	202.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.07;DP=260;ExcessHet=0;FS=2.995;MLEAC=1;MLEAF=0.071;MQ=54.17;MQRankSum=-3.256;QD=2.63;ReadPosRankSum=0.722;SOR=1.298	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:67,10:77:99:0|1:6002796_A_G:213,0,2678:6002796	6	0	1	0
chr11	6002814	6002814	T	A	exonic	OR56A4	.	nonsynonymous SNV	OR56A4:NM_001005179:exon1:c.A179T:p.Q60L	.	418	1086	18	0	0	18	0.00821918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.00310288822809	.	0.00159744	0.0009	0	8.651e-05	0	0	0.0007	0	0.0036	0.0003074	8	26028	rs573348744	0.0002	0.0009	0.0001	0.0002	0.0013	0.0001	0.0001	0.0011	0.0010	0	4.474e-05	0.0030	0	0	0.0004	2.429e-05	0.0003	0.0013	0.0004	0.0008	0.0002	0.0006	0.0019	0.0003	0.0003	0.0010	0.0007	2.406e-05	0	0.0003	0.0080	0	0	0	0.0002	0.0019	0.0019	0.001	0.78490	D	0.003	0.76473	D	0.136	0.27347	B	0.091	0.29943	B	0.603978	0.10931	U	0.676215	0.892283	0.27859	N	1.545	0.39105	L	7.73	0.00343	T	-5.37	0.84882	D	0.21	0.23380	-1.0512	0.14064	T	0.002	0.00556	T	10	0.011598259	0.00253	T	0.003103	0.06726	T	0.094	0.27141	.	.	0.223146558224	0.21909	0.20182792304734926	0.20099	0.128373630327	0.14471	0.195110529661	0.00329	T	0.139195	0.47309	T	-0.181999	0.23439	T	-0.499206	0.22430	T	0.114993181662274	0.13933	T	0.0620938	0.00452	T	0.19301304	0.40993	0.24828698	0.50376	0.19301304	0.40993	0.24828698	0.50375	-8.742	0.66021	D	.	.	0.230	0.46893	B	.;.;.;.	.;.;.;.	3.441444	0.47879	22.5	0.9926401870347723	0.57322	0.60168	0.31119	D	AEFI	0.274599	0.38975	N	-0.29137709439402	0.29481	1.635203	-0.325694079119239	0.27271	1.512113	0.00201802303790374	0.09087	0.487112	0.14033	0	0.573888	0.26702	0	0.55458	0.18720	0	0.564101	0.26826	0	.	.	3.62	2.42	0.28720	0.653000	0.24588	.	.	0.665000	0.62972	0.000000	0.06391	0.001000	0.17328	0.945000	0.48827	0.0:0.1024:0.0:0.8976	8.216	0.30670	808	0.43318	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001566	0.000000	0.000000	0.000000	0.000000	0.008621	0.006098	0.000000	0.07143	366.63	33	chr11	6002814	.	T	A	366.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.133;DP=270;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=54.8;MQRankSum=-2.024;QD=4.26;ReadPosRankSum=-1.394;SOR=0.759	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:69,17:86:99:0|1:6002796_A_G:377,0,2728:6002796	6	0	1	0
chr11	6027424	6027424	T	A	exonic	OR56A1	.	nonsynonymous SNV	OR56A1:NM_001001917:exon1:c.A281T:p.Y94F	.	415	1089	18	0	0	18	0.00819672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.145	0.00312353429315	0.0005	0.00179712	0.0016	0.0002	0.0002	0	0	0.0013	0.0011	0.0061	0.0001682	26	154602	rs145879154	0.0010	0.0010	0.0008	0.0012	0.0062	0.0010	0.0009	0.0057	0.0056	0.0001	0.0002	0.0192	0	0	0.0023	0.0002	0.0023	0.0062	0.0009	0.0010	0.0006	0.0013	0.0071	0.0008	0.0008	0.0052	0.0045	9.623e-05	0	0.0004	0.0199	0	0	0	0.0004	0.0024	0.0071	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.014230	0.28595	N	0.165158	1	0.08975	N	-1.615	0.00410	N	4.12	0.02891	T	2.24	0.00310	N	0.096	0.07673	-0.9485	0.41228	T	0.002	0.00497	T	10	0.003635615	0.00066	T	0.003124	0.06786	T	0.145	0.38592	.	.	0.0806252709748	0.07271	0.09494722016934351	0.09426	0.0321017088889	0.03340	0.266911178827	0.05742	T	0.017716	0.14403	T	-0.361359	0.04054	T	-0.756843	0.03227	T	0.00402968774608686	0.00043	T	0.534247	0.17838	T	0.0753232	0.16962	0.035580516	0.02838	0.0753232	0.16962	0.035580516	0.02838	1.616	0.00074	T	.	.	0.056	0.00934	B	.;.;.;.	.;.;.;.	0.501855	0.08709	5.482	0.097634342334657662	0.00107	0.01689	0.05383	N	AEFBI	0.019848	0.00727	N	-1.36895505698783	0.02933	0.1302767	-1.12200487635002	0.07281	0.3535594	8.68142994786357E-5	0.04703	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.16	4.16	0.48138	0.003000	0.12984	.	.	-0.047000	0.17328	0.000000	0.06391	0.065000	0.22112	0.113000	0.18872	0.7407:0.0:0.0926:0.1667	4.905	0.13146	878	0.29785	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003171	0.000000	0.001359	0.000000	0.000000	0.025862	0.006098	0.007576	0.07143	949.53	47	chr11	6027424	.	T	A	949.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.188;DP=306;ExcessHet=0;FS=1.648;MLEAC=1;MLEAF=0.071;MQ=56.87;MQRankSum=-3.935;QD=9.59;ReadPosRankSum=1.49;SOR=0.535	GT:AD:DP:GQ:PL	0/1:57,42:99:99:960,0,1502	6	0	1	0
chr11	6027496	6027496	A	G	exonic	OR56A1	.	nonsynonymous SNV	OR56A1:NM_001001917:exon1:c.T209C:p.L70P	.	417	1087	18	0	0	18	0.00821168	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.494	0.0230371877252	.	.	0.0014	0.0002	8.649e-05	0	0	0.0011	0.0011	0.0053	0.0001153	3	26028	rs200051242	0.0009	0.0010	0.0007	0.0011	0.0057	0.0008	0.0008	0.0052	0.0051	0.0001	0.0002	0.0173	0	0	0.0019	0.0002	0.0019	0.0057	0.0008	0.0009	0.0005	0.0011	0.0056	0.0007	0.0006	0.0040	0.0034	0.0001	0	0.0003	0.0160	0	0	0	0.0004	0.0009	0.0056	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.986	0.76916	D	0.001695	0.38271	N	0.000000	0.999999	0.58761	D	3.495	0.92709	M	2.47	0.14783	T	-6.48	0.91522	D	0.834	0.82964	-0.4342	0.70925	T	0.196	0.55042	T	10	0.013698697	0.00290	T	0.023037	0.45977	T	0.494	0.77973	.	.	0.582324375139	0.57904	0.7405713789484896	0.74002	0.304299532992	0.32738	0.263798564672	0.05352	T	0.209621	0.56988	T	0.243686	0.78008	D	0.112262	0.77723	D	0.125351927149358	0.14946	T	0.674733	0.28305	T	0.96529716	0.97808	0.96236706	0.99097	0.96529716	0.97808	0.96236706	0.99097	-10.595	0.77391	D	.	.	0.689	0.72515	P	.;.;.;.	.;.;.;.	4.474829	0.69757	25.4	0.99887720744948061	0.96281	0.99638	0.98230	D	AEFBI	0.930073	0.91681	D	0.92284737674452	0.92833	11.65658	0.781124662797348	0.88452	9.587164	0.956221214386942	0.28235	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.04	4.04	0.46262	9.112000	0.93630	.	.	0.752000	0.88150	0.994000	0.38300	1.000000	0.68203	0.977000	0.56843	1.0:0.0:0.0:0.0	12.231	0.53803	878	0.29785	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003024	0.000000	0.001359	0.000000	0.000000	0.025862	0.006098	0.007576	0.07143	594.53	47	chr11	6027496	.	A	G	594.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.065;DP=259;ExcessHet=0;FS=21.711;MLEAC=1;MLEAF=0.071;MQ=51.35;MQRankSum=-5.156;QD=10.81;ReadPosRankSum=-0.664;SOR=3.497	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:37,18:55:99:0|1:6027496_A_G:605,0,1483:6027496	6	0	1	0
chr11	6027514	6027514	T	A	exonic	OR56A1	.	nonsynonymous SNV	OR56A1:NM_001001917:exon1:c.A191T:p.Q64L	.	420	1085	17	0	0	17	0.00777321	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	0.00289780256829	.	.	0.0013	0.0002	8.658e-05	0	0	0.0011	0.0011	0.0050	0.0001153	3	26028	rs201319935	0.0008	0.0010	0.0006	0.0010	0.0054	0.0008	0.0008	0.0050	0.0048	0.0001	0.0002	0.0162	0	0	0.0019	0.0002	0.0018	0.0054	0.0007	0.0009	0.0005	0.0009	0.0046	0.0006	0.0005	0.0031	0.0026	9.628e-05	0	0.0001	0.0143	0	0	0	0.0003	0.0009	0.0046	0.001	0.78490	D	0.002	0.79402	D	0.136	0.27347	B	0.056	0.26147	B	0.119085	0.19088	N	0.371166	0.885429	0.27976	N	1.43	0.35840	L	7.73	0.00343	T	-5.32	0.84525	D	0.184	0.19995	-1.0802	0.07310	T	0.002	0.00526	T	10	0.012434185	0.00267	T	0.002898	0.06133	T	0.090	0.26093	.	.	0.307648195649	0.30373	0.10012211327099994	0.09943	0.0345273885609	0.03626	0.188319355249	0.00197	T	0.176005	0.52579	T	-0.213506	0.18887	T	-0.544463	0.17861	T	0.0657932999576962	0.08048	T	0.20118	0.02294	T	0.40179905	0.60857	0.5315363	0.72931	0.40179905	0.60858	0.5315363	0.72931	-8.748	0.66060	D	.	.	0.231	0.47546	B	.;.;.;.	.;.;.;.	2.456997	0.31646	18.80	0.99019144352732824	0.50548	0.67622	0.33500	D	AEFBI	0.324152	0.42613	N	-0.234089625880273	0.31744	1.783021	-0.261823760540326	0.29366	1.644716	0.0149054490652373	0.12652	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.27	4.27	0.50009	0.107000	0.15212	.	.	0.661000	0.55757	0.000000	0.06391	0.000000	0.08366	0.768000	0.36443	0.0:0.0:0.176:0.824	9.581	0.38653	878	0.29785	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.000000	0.000000	0.000000	0.025862	0.006098	0.007576	0.07143	460.44	47	chr11	6027514	.	T	A	460.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.85;DP=260;ExcessHet=0;FS=23.95;MLEAC=1;MLEAF=0.071;MQ=52.24;MQRankSum=-4.909;QD=9.03;ReadPosRankSum=-0.232;SOR=3.91	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:37,14:51:99:0|1:6027496_A_G:471,0,1501:6027496	6	0	1	0
chr11	7043149	7043149	G	A	exonic	NLRP14	.	nonsynonymous SNV	NLRP14:NM_176822:exon4:c.G1123A:p.A375T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.246	0.0153242057997	.	.	0.0001	0	0	0	0	0	0	0.0008	9.06e-05	14	154602	rs368562565	4.72e-05	4.788e-05	2.723e-05	6.738e-05	0.0005	3.794e-05	3.476e-05	0.0003	0.0003	0.0002	0	0	0	0	0	8.993e-06	0.0002	0.0005	5.258e-05	5.254e-05	2.57e-05	8.073e-05	0.0002	2.558e-05	1.831e-05	4.74e-05	3.054e-05	0.0001	0	0	0	0	0	0	0	0.0010	0.0002	0.227	0.18498	T	0.253	0.23501	T	0.0	0.02946	B	0.0	0.01387	B	0.724449	0.09907	N	0.861567	1	0.08975	N	0.2	0.09183	N	-1.74	0.83413	D	-0.19	0.09965	N	0.064	0.03613	-0.9109	0.46744	T	0.215	0.57599	T	10	0.23978949	0.41126	T	0.015324	0.35983	T	0.246	0.55340	0.892	0.97414	0.12205267543	0.11705	0.062151928497043346	0.06155	0.0177436046835	0.01731	0.261193752289	0.05034	T	0.020138	0.15912	T	-0.378549	0.03182	T	-0.438805	0.28941	T	0.933199644088745	0.59977	D	0.149285	0.01243	T	0.025960624	0.01593	0.050322816	0.07875	0.025960624	0.01593	0.050322816	0.07875	-5.412	0.41035	T	.	.	0.078	0.06990	B	.	.	-0.823529	0.01061	0.046	0.61636307334665441	0.06759	0.00359	0.01841	N	AEFBI	0.019676	0.00706	N	-2.23064568329539	0.00065	0.002800756	-2.29679848359645	0.00067	0.002964526	0.733327159431107	0.23087	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	4.69	-8.59	0.00776	-1.704000	0.01999	-7.649000	0.01113	-2.552000	0.00247	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.2925:0.1043:0.5012:0.102	6.434	0.21017	687	0.59234	NACHT nucleoside triphosphatase	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	923.44	34	chr11	7043149	.	G	A	923.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.28;DP=308;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.99;ReadPosRankSum=1.16;SOR=0.725	GT:AD:DP:GQ:PL	0/1:47,37:84:99:934,0,1054	6	0	1	0
chr11	7648505	7648505	T	A	exonic	PPFIBP2	.	nonsynonymous SNV	PPFIBP2:NM_001256569:exon14:c.T1336A:p.L446I,PPFIBP2:NM_001256568:exon15:c.T1429A:p.L477I,PPFIBP2:NM_001351858:exon16:c.T1534A:p.L512I,PPFIBP2:NM_001351860:exon16:c.T1558A:p.L520I,PPFIBP2:NM_001351861:exon16:c.T1534A:p.L512I,PPFIBP2:NM_001351857:exon17:c.T1567A:p.L523I,PPFIBP2:NM_001351859:exon17:c.T1567A:p.L523I,PPFIBP2:NM_001351854:exon18:c.T1765A:p.L589I,PPFIBP2:NM_001351856:exon18:c.T1771A:p.L591I,PPFIBP2:NM_003621:exon18:c.T1765A:p.L589I,PPFIBP2:NM_001351853:exon19:c.T1798A:p.L600I,PPFIBP2:NM_001351855:exon19:c.T1798A:p.L600I,PPFIBP2:NM_001351862:exon19:c.T1765A:p.L589I	.	430	1058	34	0	0	34	0.015814	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.262	.	0.0016	0.0061901	0.0050	0.0008	0.0048	0.0002	0.0005	0.0024	0.0077	0.0228	0.0045019	696	154602	rs149157151	0.0039	0.0039	0.0032	0.0045	0.0245	0.0038	0.0037	0.0237	0.0233	0.0004	0.0035	0.0001	5.038e-05	0.0004	0.0052	0.0027	0.0043	0.0245	0.0026	0.0026	0.0021	0.0031	0.0262	0.0024	0.0023	0.0225	0.0211	0.0004	0	0.0037	0	0	0.0005	0	0.0026	0.0038	0.0262	0.0	0.91255	D	0.063	0.92824	T	0.985	0.61118	D	0.987	0.77487	D	0.000023	0.55875	D	0.000000	0.788904	0.34361	D	2.79	0.81396	M	0.61	0.53516	T	-1.85	0.43334	N	0.769	0.79118	-0.4659	0.69868	T	0.212	0.57307	T	10	0.0106392205	0.00236	T	.	.	.	0.262	0.57482	.	.	0.574091456918	0.57077	0.49773145617975584	0.49694	0.231808938952	0.25732	0.570495069027	0.48747	T	0.120955	0.44357	T	-0.29851	0.08801	T	-0.183312	0.56215	T	0.0556828833515985	0.06471	T	0.889011	0.61998	D	0.3305879	0.55519	0.30209062	0.56241	0.3305879	0.55519	0.30209062	0.56240	-11.804	0.83883	D	.	.	0.282	0.51497	B	.;.;.;.	.;.;.;.	3.173236	0.43041	21.7	0.99424277596642729	0.63935	0.72408	0.35442	D	AEDBI	0.298969	0.40814	N	0.323836889841474	0.57374	3.904504	0.225831262289025	0.51286	3.312396	0.504164713094992	0.20967	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.87	0.919	0.18518	1.289000	0.32913	1.482000	0.26828	0.665000	0.62972	0.690000	0.28531	0.951000	0.29025	0.847000	0.40026	0.0:0.3758:0.0:0.6242	8.367	0.31555	770	0.49152	Sterile alpha motif domain|Sterile alpha motif domain|Sterile alpha motif domain|Liprin-beta, SAM domain repeat 1;Sterile alpha motif domain|Sterile alpha motif domain|Sterile alpha motif domain|Liprin-beta, SAM domain repeat 1;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007560	0.000000	0.002717	0.008772	0.000000	0.008621	0.003049	0.034351	0.07143	407.63	34	chr11	7648505	.	T	A	407.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.407;DP=202;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.15;ReadPosRankSum=1.44;SOR=0.569	GT:AD:DP:GQ:PL	0/1:15,16:31:99:418,0,390	6	0	1	0
chr11	22272895	22272895	C	G	exonic	ANO5	.	nonsynonymous SNV	ANO5:NM_001142649:exon19:c.C2138G:p.T713S,ANO5:NM_213599:exon19:c.C2141G:p.T714S	Gnathodiaphyseal dysplasia, Autosomal dominant;Miyoshi muscular dystrophy 3, Autosomal recessive;Muscular dystrophy, limb-girdle, type 2L, Autosomal recessive	0	1512	10	0	0	10	0.00329598	.	.	YES	192166	Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2L|Gnathodiaphyseal_dysplasia|not_provided|ANO5-Related_Muscle_Diseases	MONDO:MONDO:0012652,MedGen:C1969785,OMIM:611307,Orphanet:206549|MONDO:MONDO:0008151,MedGen:C1833736,OMIM:166260,Orphanet:53697|MedGen:C3661900|MedGen:CN180644	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.498	0.0222549554459	0.0005	0.000199681	0.0007	0	0.0006	0	0	0.0010	0	0.0012	0.0006921	107	154602	rs200631556	0.0008	0.0008	0.0007	0.0008	0.0057	0.0007	0.0007	0.0042	0.0037	0.0001	0.0010	0.0013	0	0	0.0057	0.0008	0.0009	0.0013	0.0009	0.0009	0.0010	0.0008	0.0014	0.0008	0.0007	0.0011	0.0010	0.0002	0	0.0014	0.0020	0	0	0	0.0013	0.0033	0.0006	0.067	0.35918	T	0.05	0.48080	T	0.03	0.20002	B	0.258	0.39350	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.425	0.70256	M	-0.16	0.65378	T	-3.33	0.66206	D	0.854	0.85027	-0.5355	0.67334	T	0.350	0.71399	T	10	0.19104081	0.34773	T	0.022255	0.45130	T	0.498	0.78226	0.638	0.77470	0.64802381883	0.64510	0.6109420288198557	0.61026	0.124345642986	0.14002	0.704861760139	0.67848	T	0.308895	0.68096	T	0.0216646	0.54607	T	0.222965	0.84324	D	0.0878402663427369	0.10959	T	0.89751	0.64163	D	0.44743386	0.63879	0.36949426	0.62218	0.44743386	0.63879	0.36949426	0.62218	-8.152	0.62101	D	0.34720984758349843	0.44465	0.2	0.42361	B	.	.	3.741146	0.53572	23.4	0.99474427690680556	0.66525	0.98626	0.84855	D	AEFBI	0.943100	0.94852	D	0.357017464991941	0.59112	4.087909	0.488150366090404	0.67205	5.052767	0.999999999280968	0.74766	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.57	5.57	0.84021	7.896000	0.85926	7.701000	0.66289	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	19.907	0.97012	758	0.50837	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006042	0.005051	0.005435	0.011696	0.000000	0.008621	0.003049	0.007576	0.07143	210.53	29	chr11	22272895	.	C	G	210.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0;DP=203;ExcessHet=0;FS=1.475;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=6.58;ReadPosRankSum=-0.218;SOR=1.148	GT:AD:DP:GQ:PL	0/1:21,11:32:99:221,0,503	6	0	1	0
chr11	35317442	35317442	C	T	exonic	SLC1A2	.	nonsynonymous SNV	SLC1A2:NM_004171:exon2:c.G92A:p.R31Q,SLC1A2:NM_001195728:exon3:c.G65A:p.R22Q,SLC1A2:NM_001252652:exon3:c.G65A:p.R22Q	Epileptic encephalopathy, early infantile, 41, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1624941	Inborn_genetic_diseases|SLC1A2-related_disorder|Developmental_and_epileptic_encephalopathy,_41|not_provided	MeSH:D030342,MedGen:C0950123|.|MONDO:MONDO:0014916,MedGen:C4310717,OMIM:617105|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.051	0.0120269713744	7.7e-05	.	0.0003	0	0.0004	0	0	0.0004	0	0	0.0002393	37	154602	rs199599866	0.0002	0.0002	0.0002	0.0002	0.0007	0.0002	0.0002	0.0005	0.0005	0.0001	0.0007	0	0	1.873e-05	0.0002	0.0002	0.0002	0	0.0002	0.0002	0.0002	0.0001	0.0003	0.0001	0.0001	0.0002	0.0002	9.621e-05	0	0.0003	0	0	0	0	0.0003	0.0005	0	0.191	0.31235	T	0.475	0.13290	T	0.002	0.09854	B	0.001	0.04355	B	0.000293	0.46274	D	0.186065	0.985399	0.24714	N	1.155	0.29575	L	0.45	0.56446	T	-0.21	0.14193	N	0.268	0.30347	-1.0491	0.14649	T	0.070	0.28445	T	10	0.038514853	0.02275	T	0.012027	0.30231	T	0.051	0.14325	.	.	0.447772084918	0.44398	0.3825734113879239	0.38172	0.628665256713	0.56926	0.283784985542	0.08026	T	0.214897	0.57661	T	-0.439545	0.01301	T	-0.507242	0.21599	T	0.0498256637834116	0.05469	T	0.843416	0.53011	T	0.044650827	0.07173	0.052192256	0.08550	0.044650827	0.07172	0.052192256	0.08550	-4.472	0.30823	T	.	.	0.068	0.05103	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	2.121831	0.27008	17.32	0.99066183943336439	0.51598	0.45333	0.27515	N	AEFDBI	0.124857	0.24110	N	-0.691767791685156	0.16255	0.8265394	-0.508777413967918	0.21914	1.187768	0.997886547716542	0.36150	0.487112	0.14033	0	0.491513	0.07743	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.94	3.07	0.34476	0.782000	0.26449	1.793000	0.28816	-0.187000	0.09635	0.589000	0.27658	0.908000	0.28083	0.275000	0.23893	0.0:0.77:0.0:0.23	9.298	0.36988	603	0.67726	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.07143	375.44	34	chr11	35317442	.	C	T	375.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.711;DP=233;ExcessHet=0;FS=1.184;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.53;ReadPosRankSum=-0.154;SOR=0.615	GT:AD:DP:GQ:PL	0/1:25,19:44:99:386,0,567	6	0	1	0
chr11	46548349	46548349	C	T	exonic	AMBRA1	.	nonsynonymous SNV	AMBRA1:NM_001267782:exon2:c.G32A:p.R11Q,AMBRA1:NM_001267783:exon2:c.G32A:p.R11Q,AMBRA1:NM_001300731:exon2:c.G32A:p.R11Q,AMBRA1:NM_001367468:exon2:c.G32A:p.R11Q,AMBRA1:NM_001367469:exon2:c.G32A:p.R11Q,AMBRA1:NM_001367471:exon2:c.G32A:p.R11Q,AMBRA1:NM_017749:exon2:c.G32A:p.R11Q	.	.	.	.	.	.	.	.	.	.	.	2278231	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.373	0.0388685820144	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1451283340	6.841e-07	6.84e-07	1.361e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	6.573e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.048	0.49117	D	0.118	0.92824	T	0.999	0.90584	D	0.836	0.62698	P	0.000000	0.84330	D	0.053187	0.99996	0.58761	D	1.24	0.30952	L	-0.38	0.70950	T	-1.24	0.74051	N	0.807	0.81459	-0.2871	0.75345	T	0.410	0.75901	T	10	0.49264818	0.61083	T	0.038869	0.58476	D	0.373	0.69188	0.472	0.54699	0.654682062541	0.65180	0.5280322351273035	0.52727	0.637166113982	0.57465	0.843075990677	0.88563	D	0.02454	0.51784	T	0.182603	0.72281	D	0.0245201	0.71921	D	0.834164142608643	0.48858	D	0.962104	0.85685	D	0.28087258	0.51133	0.17582333	0.40074	0.28087258	0.51133	0.17582333	0.40074	-8.864	0.67070	D	.	.	0.195	0.41602	B	.;.;.;.;.;.	.;.;.;.;.;.	4.663392	0.74453	26.2	0.99898129021029591	0.97048	0.96765	0.70819	D	AEFBI	0.618405	0.60422	D	0.582761073055049	0.72098	5.752697	0.639522266642219	0.77833	6.756099	0.999999787070122	0.74766	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.613276	0.41899	0	.	.	5.94	5.94	0.96165	4.293000	0.58834	7.660000	0.64180	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	20.359	0.98850	0	0.99858	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	566.53	34	chr11	46548349	.	C	T	566.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.686;DP=216;ExcessHet=0;FS=2.614;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.88;ReadPosRankSum=0.317;SOR=0.379	GT:AD:DP:GQ:PL	0/1:21,23:44:99:577,0,476	6	0	1	0
chr11	46867995	46867995	C	T	exonic	LRP4	.	nonsynonymous SNV	LRP4:NM_002334:exon34:c.G5071A:p.E1691K	Cenani-Lenz syndactyly syndrome, Autosomal recessive;Sclerosteosis 2, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	796595	Sclerosteosis_2|Cenani-Lenz_syndactyly_syndrome|Congenital_myasthenic_syndrome_17|not_provided	MONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305,Orphanet:3152|MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780,Orphanet:3258|MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304,Orphanet:590|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.537	0.0901628027282	.	0.000399361	0.0003	0	0	0	0	0	0	0.0024	0.0002846	44	154602	rs528376810	0.0002	0.0002	9.937e-05	0.0003	0.0032	0.0002	0.0002	0.0028	0.0027	0	0	0	0	0	0	0	9.935e-05	0.0032	0.0001	0.0001	5.139e-05	0.0002	0.0033	7.086e-05	5.744e-05	0.0021	0.0017	0	0	0	0	0	0	0	0	0.0005	0.0033	0.053	0.38863	T	0.315	0.19421	T	0.956	0.54666	P	0.899	0.63802	P	0.000003	0.62929	D	0.061070	0.997969	0.44365	D	0.69	0.16971	N	-2.55	0.89561	D	-0.41	0.14000	N	0.416	0.45615	0.047	0.83184	D	0.624	0.86784	D	10	0.0131136775	0.00279	T	0.090163	0.75465	D	0.537	0.80605	0.452	0.51448	0.767477865542	0.76535	0.6971593771118743	0.69656	0.619520021413	0.56296	0.539111912251	0.44319	T	0.118859	0.43997	T	-0.112313	0.34385	T	0.0622157	0.74393	D	0.174241217717248	0.18864	T	0.916408	0.70110	D	0.1277867	0.29893	0.14730428	0.34864	0.1277867	0.29893	0.14730428	0.34864	-4.907	0.35814	T	.	.	0.080	0.07841	B	.	.	2.688448	0.35084	19.80	0.99650465480096218	0.77254	0.95102	0.63445	D	AEFBI	0.646858	0.62224	D	0.284269770582924	0.55349	3.699189	0.330657425378424	0.57349	3.900303	0.978109000678624	0.29887	0.732398	0.92422	0	0.627178	0.54094	0	0.743671	0.96076	0	0.620846	0.47308	0	.	.	5.71	5.71	0.89031	4.506000	0.60148	3.345000	0.37739	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.855000	0.40485	0.0:1.0:0.0:0.0	17.003	0.86258	13	0.98894	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	349.46	34	chr11	46867995	.	C	T	349.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.572;DP=214;ExcessHet=0;FS=2.987;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.71;ReadPosRankSum=1.27;SOR=0.478	GT:AD:DP:GQ:PL	0/1:19,17:36:99:360,0,488	6	0	1	0
chr11	56988923	56988923	G	T	exonic	OR5AK2	.	stopgain	OR5AK2:NM_001005323:exon1:c.G10T:p.G4X	.	432	1080	9	1	0	11	0.00506679	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0.0131789	0.0076	0.0006	0.0003	0.0049	0	3.081e-05	0.0036	0.0697	0.0065911	1019	154602	rs13343184	0.0031	0.0031	0.0018	0.0044	0.0488	0.0030	0.0030	0.0476	0.0471	0.0004	2.341e-05	0.0008	0.0019	0	0.0011	2.898e-05	0.0040	0.0488	0.0020	0.0020	0.0012	0.0029	0.0510	0.0018	0.0018	0.0458	0.0437	0.0006	0	6.539e-05	0.0023	0.0043	0	0	2.941e-05	0.0009	0.0510	.	.	.	.	.	.	.	.	.	.	.	.	0.525229	0.05225	N	1.353690	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.014	0.00160	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.518809	0.00447	T	-0.480024	0.24443	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant	High	4.568487	0.72054	25.8	0.84247721287921196	0.15181	0.04851	0.10585	N	AEFGI	0.043928	0.07004	N	-0.363753535981303	0.26769	1.463546	-0.752943684886623	0.15651	0.8241503	5.7630036850482E-5	0.04171	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.85	-0.466	0.11546	-2.485000	0.01055	.	.	-0.346000	0.05637	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.3867:0.1618:0.4515:0.0	4.820	0.12751	413	0.81939	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005035	0.000000	0.000000	0.005848	0.000000	0.000000	0.000000	0.018939	0.07143	698.49	42	chr11	56988923	.	G	T	698.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.15;DP=253;ExcessHet=0;FS=3.584;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.58;ReadPosRankSum=1.25;SOR=1.204	GT:AD:DP:GQ:PL	0/1:37,29:66:99:709,0,892	6	0	1	0
chr11	57659769	57659769	C	T	exonic	CLP1	.	nonsynonymous SNV	CLP1:NM_001142597:exon2:c.C293T:p.T98I,CLP1:NM_006831:exon2:c.C293T:p.T98I	Pontocerebellar hypoplasia, type 10, Autosomal recessive	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.00704085233541	.	.	4.943e-05	0	0	0	0	1.499e-05	0	0.0003	3.88e-05	6	154602	rs139859258	2.326e-05	2.326e-05	1.497e-05	3.163e-05	0.0003	1.674e-05	1.477e-05	0.0002	0.0002	0	0	0	0	0	0.0002	4.496e-06	8.279e-05	0.0003	1.97e-05	1.968e-05	1.285e-05	2.685e-05	1.47e-05	5.24e-06	2.45e-06	.	.	0	0	0	0	0	0	0	1.47e-05	0.0009	0	0.081	0.34621	T	0.051	0.47828	T	0.079	0.24468	B	0.04	0.24832	B	0.001196	0.39899	N	0.253053	0.987129	0.40539	D	-0.09	0.04745	N	1.02	0.40749	T	-1.1	0.32387	N	0.578	0.61849	-1.0513	0.14036	T	0.055	0.23375	T	10	0.1190809	0.22528	T	0.007041	0.18649	T	0.036	0.09122	0.396	0.42262	0.33174030287	0.32783	0.5626039213901981	0.56187	0.682638554122	0.60123	0.755306243896	0.75232	T	0.025479	0.33443	T	-0.318197	0.07046	T	-0.394521	0.34024	T	0.128562912344933	0.15248	T	0.908909	0.79148	D	0.075915545	0.17136	0.10008797	0.23919	0.075915545	0.17135	0.10008797	0.23918	-5.611	0.42892	T	0.1351199442116821	0.14659	0.440	0.64844	A	.;.;.;.;.	.;.;.;.;.	3.844471	0.55656	23.6	0.99433515093914959	0.64374	0.98061	0.79268	D	AEFBI	0.463394	0.51232	N	-0.104644099033932	0.37189	2.160155	0.141937576827109	0.46718	2.913148	0.999993388359548	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.61	5.61	0.85347	4.773000	0.62025	7.697000	0.66086	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.9235:0.0:0.0765	12.580	0.55738	214	0.91692	Clp1, N-terminal beta-sandwich domain;Clp1, N-terminal beta-sandwich domain;Clp1, N-terminal beta-sandwich domain;Clp1, N-terminal beta-sandwich domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	553.44	35	chr11	57659769	.	C	T	553.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-3.366;DP=271;ExcessHet=0;FS=3.081;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=6.83;ReadPosRankSum=0.148;SOR=0.796	GT:AD:DP:GQ:PL	0/1:52,29:81:99:564,0,1490	6	0	1	0
chr11	58624107	58624107	A	G	exonic	CNTF	.	nonsynonymous SNV	CNTF:NM_000614:exon2:c.A188G:p.Q63R	.	421	1099	2	0	0	2	0.000909091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.00690614489256	.	.	.	.	.	.	.	.	.	.	.	.	.	rs950201643	1.644e-05	1.642e-05	1.635e-05	1.652e-05	0.0036	1.112e-05	9.34e-06	0.0024	0.0021	0	0	0	0	0	0.0036	0	4.974e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.325	0.03546	N	1.65	0.27650	T	1.55	0.00694	N	0.01	0.00095	-0.9944	0.31459	T	0.025	0.10553	T	9	0.044665486	0.03450	T	0.006906	0.18261	T	0.099	0.28413	0.447	0.50629	0.213573922156	0.20996	0.0707777739800325	0.07014	0.0238801452212	0.02421	0.215032353997	0.01043	T	0.080546	0.36388	T	-0.404	0.02179	T	-0.818095	0.01491	T	0.0304526182354897	0.02060	T	0.352865	0.07937	T	0.056952514	0.11272	0.08696223	0.20181	0.056952514	0.11271	0.08696223	0.20180	-3.13	0.11644	T	.	.	0.057	0.00563	B	.	.	-0.487871	0.01906	0.159	0.5461675312990053	0.05174	0.01870	0.05763	N	AEFDBCI	0.016356	0.00363	N	-1.76473233654134	0.00637	0.02748496	-1.66848546473649	0.01283	0.05787486	0.998972901575641	0.38110	0.460665	0.09802	0	0.577304	0.33150	0	0.575934	0.27490	0	0.549297	0.17558	0	.	.	5.82	-2.76	0.05547	-0.532000	0.06252	-0.238000	0.10617	-1.264000	0.01288	0.000000	0.06391	0.000000	0.08366	0.820000	0.38637	0.1003:0.0:0.8997:0.0	15.252	0.73248	635	0.64580	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003109	0.010101	0.001359	0.010490	0.000000	0.008621	0.000000	0.000000	0.07143	507.49	38	chr11	58624107	.	A	G	507.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.852;DP=265;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.06;ReadPosRankSum=1.31;SOR=0.713	GT:AD:DP:GQ:PL	0/1:38,25:63:99:518,0,1096	6	0	1	0
chr11	61740531	61740531	T	C	exonic	DAGLA	.	nonsynonymous SNV	DAGLA:NM_006133:exon18:c.T1922C:p.I641T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.403	0.0197228382319	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.054e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.34095	T	0.015	0.61642	D	0.948	0.53620	P	0.588	0.50402	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.7	0.43825	L	1.82	0.25018	T	-2.3	0.51157	N	0.794	0.79022	-1.0707	0.09260	T	0.080	0.31675	T	10	0.8145296	0.80704	D	0.019723	0.42154	T	0.403	0.71636	0.74	0.87232	0.236619781664	0.23270	0.7000053541781993	0.69941	0.918852446908	0.71372	0.869591116905	0.92510	D	0.336126	0.70567	T	0.210662	0.74892	D	0.0648253	0.74565	D	0.952781975269318	0.63873	D	0.952105	0.81652	D	0.31849626	0.54512	0.2169086	0.46336	0.31849626	0.54512	0.2169086	0.46335	-9.563	0.71251	D	.	.	0.611	0.69337	P	.	.	4.584081	0.72443	25.8	0.99816410860115734	0.89973	0.98810	0.87149	D	AEFBI	0.685886	0.64774	D	0.421747977381816	0.62620	4.480836	0.433105891452527	0.63640	4.601745	0.999999987493739	0.74766	0.67177	0.52595	0	0.55458	0.17659	0	0.702456	0.68683	0	0.683762	0.67416	0	.	.	4.41	4.41	0.52588	6.166000	0.71739	6.033000	0.52942	0.651000	0.53179	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	13.945	0.63586	745	0.52414	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4	1249.3	50	chr11	61740531	.	T	C	1249.3	.	AC=4;AF=0.4;AN=10;BaseQRankSum=0.107;DP=429;ExcessHet=3.1439;FS=414.536;MLEAC=5;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.77;ReadPosRankSum=0.989;SOR=9.19	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:32,11:43:39:.:.:39,0,487:.	1	0	4	2
chr11	62885478	62885478	G	T	exonic	SLC3A2	.	nonsynonymous SNV	SLC3A2:NM_001013251:exon7:c.G1013T:p.R338M,SLC3A2:NM_001012664:exon8:c.G1130T:p.R377M,SLC3A2:NM_001012662:exon10:c.G1319T:p.R440M,SLC3A2:NM_002394:exon10:c.G1316T:p.R439M	.	423	1059	37	3	0	43	0.0198982	.	.	.	738088	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.258	.	0.0015	0.00359425	0.0030	0.0003	0.0025	0	0.0026	0.0028	0.0044	0.0076	0.0027167	420	154602	rs116829615	0.0020	0.0020	0.0018	0.0023	0.0267	0.0020	0.0019	0.0233	0.0219	0.0008	0.0025	0.0021	0	0.0039	0.0267	0.0015	0.0026	0.0069	0.0019	0.0019	0.0018	0.0020	0.0054	0.0017	0.0016	0.0038	0.0032	0.0004	0	0.0027	0.0014	0	0.0040	0.0102	0.0022	0.0028	0.0054	0.077	0.42199	T	0.06	0.50809	T	0.849	0.46879	P	0.608	0.51027	P	0.052793	0.22864	N	0.470559	0.999875	0.50225	D	1.995	0.54099	M	-5.91	0.99439	D	-1.56	0.37759	N	0.332	0.38438	0.805	0.94471	D	0.942	0.98081	D	10	0.008940965	0.00202	T	.	.	.	0.692	0.88820	.	.	0.810755673742	0.80898	0.8141359971728617	0.81369	0.733038358698	0.62820	0.341537356377	0.16668	T	0.60061	0.87194	D	-0.129223	0.31621	T	0.045329	0.73276	D	0.0083581585620973	0.00101	T	0.727127	0.34152	T	0.24260016	0.47190	0.089474104	0.20926	0.24260016	0.47189	0.089474104	0.20925	-8.442	0.67387	D	.	.	0.194	0.41526	B	.;.;.;.;.	.;.;.;.;.	4.096027	0.61034	24.3	0.90343711667841153	0.19608	0.76472	0.37508	D	AEFDGBHCI	0.599319	0.59238	D	0.0127040470589235	0.42432	2.556541	-0.0203591481341204	0.38798	2.290901	0.999999999598289	0.74766	0.645754	0.44609	0	0.696144	0.67643	0	0.696144	0.63334	0	0.638787	0.57140	0	.	.	4.75	3.77	0.42499	2.765000	0.47304	.	.	0.597000	0.34315	0.630000	0.27999	1.000000	0.68203	0.938000	0.47775	0.0:0.2044:0.7956:0.0	10.08	0.41556	804	0.43891	Glycosyl hydrolase, family 13, catalytic domain;Glycosyl hydrolase, family 13, catalytic domain;.;Glycosyl hydrolase, family 13, catalytic domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.026183	0.010101	0.024457	0.046784	0.000000	0.051724	0.009146	0.026515	0.07143	929.45	37	chr11	62885478	.	G	T	929.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.083;DP=268;ExcessHet=0;FS=1.845;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.62;ReadPosRankSum=0.781;SOR=0.456	GT:AD:DP:GQ:PL	0/1:42,38:80:99:940,0,1026	6	0	1	0
chr11	63304760	63304760	C	T	exonic	SLC22A10	.	nonsynonymous SNV	SLC22A10:NM_001039752:exon9:c.C1469T:p.T490M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.00325262861668	0.0011	0.00119808	0.0004	0.0040	0.0003	0	0	4.497e-05	0.0022	0	0.0003428	53	154602	rs193006130	0.0001	0.0001	0.0001	0.0001	0.0032	0.0001	0.0001	0.0027	0.0025	0.0032	0.0002	0	0.0002	0	0.0003	3.957e-05	0.0003	6.956e-05	0.0010	0.0010	0.0009	0.0012	0.0035	0.0009	0.0008	0.0031	0.0029	0.0035	0	0.0004	0	0	0	0	4.41e-05	0.0005	0	0.096	0.31088	T	0.246	0.23984	T	0.253	0.31246	B	0.072	0.28043	B	0.626120	0.10732	N	0.775582	1	0.08975	N	0.09	0.08384	N	-0.7	0.72785	T	-1.27	0.31981	N	0.058	0.02964	-1.0024	0.29226	T	0.138	0.45564	T	10	0.005216241	0.00113	T	0.003253	0.07177	T	0.102	0.29158	.	.	0.137902524267	0.13322	0.20231043255287465	0.20148	0.0160666637987	0.01538	0.332833647728	0.15362	T	0.03713	0.24361	T	-0.559579	0.00255	T	-0.576854	0.14826	T	0.00692639298742692	0.00078	T	0.253275	0.03871	T	0.019182282	0.00445	0.035454396	0.02801	0.019182282	0.00445	0.035454396	0.02800	-5.748	0.44119	T	.	.	0.095	0.14979	B	.	.	-1.276245	0.00458	0.010	0.80244551989520707	0.13112	0.00101	0.00653	N	AEFI	0.101141	0.20321	N	-1.48200976749695	0.01977	0.08681612	-1.65120785832175	0.01370	0.06186217	0.00447665874973656	0.10576	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	2.72	-5.44	0.02419	-3.748000	0.00423	-20.000000	0.00162	-1.264000	0.01288	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2564:0.1893:0.1275:0.4268	0.752	0.00929	794	0.45591	Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003525	0.010101	0.005435	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	1049.44	35	chr11	63304760	.	C	T	1049.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.175;DP=370;ExcessHet=0;FS=4.165;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.64;ReadPosRankSum=0.828;SOR=0.382	GT:AD:DP:GQ:PL	0/1:38,45:83:99:1060,0,859	6	0	1	0
chr11	64565306	64565306	C	T	exonic	SLC22A11	.	nonsynonymous SNV	SLC22A11:NM_001307985:exon6:c.C1027T:p.R343C,SLC22A11:NM_018484:exon6:c.C1027T:p.R343C	.	394	1124	4	0	0	4	0.0017762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.255	0.0521567223257	.	.	9.506e-05	0	0	0	0	0	0	0.0003	1.94e-05	3	154602	rs770853081	3.29e-05	3.215e-05	1.553e-05	5.074e-05	0.0001	2.522e-05	2.255e-05	4.933e-05	3.628e-05	0	2.791e-05	0	8.366e-05	0	0	2.965e-05	3.454e-05	0.0001	1.971e-05	1.97e-05	3.854e-05	0	4.41e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0	0.159	0.27080	T	0.053	0.47336	T	0.782	0.49385	P	0.21	0.39904	B	0.000000	0.84330	D	0.000000	1	0.08975	N	1.21	0.30464	L	0.26	0.59314	T	-4.98	0.82141	D	0.261	0.33904	-0.7063	0.60134	T	0.311	0.68121	T	10	0.25815603	0.43240	T	0.052157	0.64956	D	0.255	0.56562	0.682	0.81982	0.533325340949	0.52981	0.6780354038423334	0.67742	0.364645057641	0.38079	0.48429775238	0.36648	T	0.581998	0.86326	D	-0.308629	0.07869	T	-0.380777	0.35631	T	0.462834149599075	0.31268	T	0.755224	0.37993	T	0.32172415	0.54785	0.1866347	0.41847	0.32172415	0.54785	0.1866347	0.41846	-7.069	0.54537	T	.	.	0.129	0.27583	B	.;.;.	.;.;.	1.704119	0.21705	15.31	0.95478266409570567	0.27037	0.03454	0.08601	N	AEFDBHCI	0.066630	0.13059	N	-0.573728863348398	0.19745	1.035838	-0.815644743473461	0.14116	0.7359521	0.95581317108424	0.28211	0.487112	0.14033	0	0.573888	0.26702	0	0.607795	0.38427	0	0.562822	0.20929	0	.	.	2.83	0.42	0.15663	1.186000	0.31687	-0.962000	0.06776	-0.231000	0.07715	0.256000	0.24909	0.000000	0.08366	0.002000	0.04165	0.0:0.4312:0.5688:0.0	9.546	0.38444	412	0.82007	Major facilitator superfamily domain|Major facilitator superfamily domain;.;Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	360.63	30	chr11	64565306	.	C	T	360.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.826;DP=202;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.87;ReadPosRankSum=2.55;SOR=0.839	GT:AD:DP:GQ:PL	0/1:11,15:26:99:371,0,212	6	0	1	0
chr11	64833739	64833739	C	T	exonic	CDC42BPG	.	nonsynonymous SNV	CDC42BPG:NM_017525:exon22:c.G2564A:p.G855E	.	426	1095	1	0	0	1	0.000456413	0.0009	0.126	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.195	0.0378507692114	0.0002	0.000998403	0.0002	0.0010	0	0	0	0.0001	0	0	0.0001617	25	154602	rs370475063	9.167e-05	9.166e-05	8.441e-05	9.902e-05	0.0009	7.891e-05	7.366e-05	0.0006	0.0006	0.0009	0.0002	0	0	0	0.0007	7.014e-05	0.0002	0	0.0004	0.0004	0.0004	0.0004	0.0012	0.0003	0.0003	0.0009	0.0008	0.0012	0	0.0004	0	0	0	0	8.819e-05	0.0009	0	0.603	0.05584	T	0.581	0.08476	T	0.982	0.60036	D	0.781	0.57337	P	0.029040	0.25513	N	0.283555	0.994726	0.42392	D	1.1	0.28011	L	-0.17	0.65563	T	-0.96	0.25551	N	0.663	0.67218	-0.9099	0.46867	T	0.172	0.51325	T	10	0.13564447	0.25810	T	0.037851	0.57866	D	0.195	0.47612	.	.	0.829715715799	0.82809	0.6430396385731413	0.64238	0.960014947929	0.72969	0.704005360603	0.67723	T	0.013509	0.11669	T	-0.214017	0.18817	T	-0.115575	0.62165	T	0.0380508516337464	0.03341	T	0.794521	0.43681	T	0.1443851	0.33145	0.14100052	0.33591	0.1443851	0.33144	0.14100052	0.33591	-5.059	0.37473	T	.	.	0.188	0.40489	B	.	.	3.894094	0.56683	23.8	0.89932138549221119	0.19230	0.93698	0.58936	D	AEFGBI	0.622516	0.60680	D	0.168933878408916	0.49709	3.168464	0.230589537761048	0.51552	3.336827	0.99999782033896	0.74766	0.695654	0.57023	0	0.547309	0.14657	0	0.723109	0.80598	0	0.567892	0.33627	0	.	.	5.18	5.18	0.71140	2.080000	0.41211	5.836000	0.50206	0.596000	0.33519	0.991000	0.37257	1.000000	0.68203	0.282000	0.24066	0.0:1.0:0.0:0.0	14.574	0.67822	309	0.87553	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.004076	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	418.53	36	chr11	64833739	.	C	T	418.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.11;DP=230;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.46;ReadPosRankSum=-0.498;SOR=0.675	GT:AD:DP:GQ:PL	0/1:24,16:40:99:429,0,583	6	0	1	0
chr11	65079664	65079664	C	T	exonic	CDCA5	.	nonsynonymous SNV	CDCA5:NM_080668:exon5:c.G367A:p.E123K	.	422	1098	2	0	0	2	0.000909918	.	.	.	724582	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.019	.	0.0083	0.00958466	0.0032	0.0318	0.0013	0	0	0.0004	0	0	0.0021863	338	154602	rs140084832	0.0009	0.0009	0.0010	0.0008	0.0277	0.0008	0.0008	0.0262	0.0257	0.0277	0.0017	0	0	0	0.0042	0.0001	0.0020	4.697e-05	0.0077	0.0077	0.0080	0.0074	0.0261	0.0073	0.0072	0.0248	0.0243	0.0261	0	0.0035	0	0	0	0.0068	0.0003	0.0076	0	0.364	0.16628	T	0.301	0.25514	T	0.106	0.26037	B	0.013	0.16460	B	0.320598	0.04072	N	1.378580	1	0.08975	N	1.825	0.47900	L	0.91	0.44856	T	-1.5	0.40660	N	0.126	0.12198	-1.0573	0.12439	T	0.033	0.13986	T	10	0.0034635663	0.00061	T	.	.	.	0.019	0.03383	.	.	0.265929055128	0.26215	0.11343057868668564	0.11271	0.531795332221	0.50662	0.353974342346	0.18506	T	0.010847	0.15918	T	-0.69774	0.00038	T	-0.754759	0.03304	T	0.00803089271355319	0.00095	T	0.487251	0.14908	T	0.048068594	0.08320	0.051486768	0.08297	0.048068594	0.08320	0.051486768	0.08296	-4.034	0.24311	T	.	.	0.070	0.09481	B	.;.	.;.	0.162745	0.05532	1.991	0.56192033338298453	0.05500	0.02124	0.06273	N	AEFBCI	.	.	.	-1.34367943676065	0.03191	0.1421239	-1.4136829686104	0.03115	0.1446539	0.999997872506436	0.74766	0.67177	0.52595	0	0.672317	0.65289	0	0.702456	0.68683	0	0.636168	0.56350	0	.	.	5.0	-3.75	0.04087	-0.284000	0.08456	-0.215000	0.10817	-1.700000	0.00758	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1501:0.2412:0.0:0.6087	5.944	0.18442	333	0.86326	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.016129	0.045918	0.031250	0.011696	0.000000	0.000000	0.003067	0.000000	0.07143	151.63	34	chr11	65079664	.	C	T	151.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.04;DP=196;ExcessHet=0;FS=2.077;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.92;ReadPosRankSum=-0.101;SOR=1.256	GT:AD:DP:GQ:PL	0/1:11,6:17:99:162,0,261	6	0	1	0
chr11	65183167	65183167	A	G	exonic	CAPN1	.	nonsynonymous SNV	CAPN1:NM_001198868:exon3:c.A307G:p.T103A,CAPN1:NM_001198869:exon3:c.A307G:p.T103A,CAPN1:NM_005186:exon3:c.A307G:p.T103A	Spastic paraplegia 76, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	724589	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.312	.	0.0062	0.00599042	0.0015	0.0161	0.0007	0	0	0.0002	0	6.058e-05	0.0015006	232	154602	rs17885718	0.0007	0.0007	0.0007	0.0006	0.0203	0.0006	0.0006	0.0190	0.0185	0.0203	0.0011	0	0	0	0.0043	9.624e-05	0.0015	4.637e-05	0.0054	0.0054	0.0055	0.0053	0.0179	0.0051	0.0050	0.0169	0.0164	0.0179	0	0.0029	0	0	0	0.0136	0.0003	0.0057	0	0.039	0.72154	D	0.008	0.74150	D	0.805	0.45210	P	0.841	0.60228	P	0.000000	0.84330	D	0.053281	1	0.81001	D	2.37	0.68279	M	2.3	0.16953	T	-4.62	0.79143	D	0.549	0.57604	-1.0183	0.24269	T	0.063	0.26172	T	10	0.012764335	0.00273	T	.	.	.	0.312	0.63375	.	.	0.658479370467	0.65562	0.7251885963826302	0.72462	0.979952316233	0.73708	0.645923495293	0.59406	T	0.328232	0.88406	T	-0.395345	0.02484	T	-0.326382	0.41870	T	0.0631403539013446	0.07654	T	0.867913	0.66442	D	0.57082915	0.71106	0.7062007	0.82679	0.81808496	0.85093	0.8257005	0.89906	-11.377	0.81685	D	0.6025871942033217	0.66970	0.338	0.59222	B	.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.	4.799071	0.77957	26.8	0.99816448640622457	0.89973	0.94570	0.61596	D	AEFDGBI	0.865576	0.78470	D	0.663609289111864	0.77253	6.639121	0.617511283591788	0.76209	6.449408	0.999999999999643	0.74766	0.766844	0.99359	0	0.672317	0.65289	0	0.851219	0.99655	0	0.735409	0.98432	0	.	.	4.51	4.51	0.54589	9.286000	0.95051	11.182000	0.88348	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	1.0:0.0:0.0:0.0	11.835	0.51593	411	0.82069	Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain;Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain;Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain;Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain;Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain;Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain;Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain;Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain;Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain;Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain;Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain;Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain;Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.013595	0.040404	0.024457	0.011696	0.000000	0.008621	0.003049	0.000000	0.07143	495.45	33	chr11	65183167	.	A	G	495.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.45;DP=238;ExcessHet=0;FS=1.009;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.26;ReadPosRankSum=-0.145;SOR=0.901	GT:AD:DP:GQ:PL	0/1:37,23:60:99:506,0,829	6	0	1	0
chr11	66563053	66563053	G	T	exonic	ACTN3	.	stopgain	ACTN3:NM_001104:exon21:c.G2566T:p.E856X,ACTN3:NM_001258371:exon21:c.G2695T:p.E899X	.	414	1105	2	1	0	4	0.00180668	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0064	0.00938498	0.0021	0.0231	0.0013	0	0	6.064e-05	0.0011	0.0001	0.0019857	307	154602	rs116281147	0.0007	0.0007	0.0008	0.0006	0.0213	0.0006	0.0006	0.0200	0.0195	0.0213	0.0017	0	0	0	0.0005	4.5e-05	0.0021	8.124e-05	0.0067	0.0067	0.0072	0.0062	0.0221	0.0064	0.0062	0.0209	0.0204	0.0221	0	0.0051	0	0	0	0	0.0002	0.0047	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.634	0.77978	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.283846	0.81642	D	0.652534	0.98317	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	10.458959	0.99752	47	0.99594389873383415	0.73807	0.99735	0.99069	D	AEFDGBI	0.385980	0.46652	N	.	.	.	.	.	.	0.99999999931811	0.74766	0.256867	0.04430	0	0.097471	0.02872	0	0.320204	0.05785	0	0.079188	0.02158	0	.	.	5.2	5.2	0.71720	9.982000	0.99168	5.031000	0.46827	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.026000	0.12556	0.0:0.0:1.0:0.0	16.286	0.82547	59	0.97452	EF-hand, Ca insensitive;EF-hand, Ca insensitive	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008056	0.015152	0.012228	0.008772	0.000000	0.000000	0.000000	0.000000	0.07143	1228.45	35	chr11	66563053	.	G	T	1228.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.841;DP=253;ExcessHet=0;FS=5.222;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=20.47;ReadPosRankSum=0.797;SOR=0.965	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:28,32:60:99:0|1:66563053_G_T:1239,0,1079:66563053	6	0	1	0
chr11	66563054	66563054	A	T	exonic	ACTN3	.	nonsynonymous SNV	ACTN3:NM_001104:exon21:c.A2567T:p.E856V,ACTN3:NM_001258371:exon21:c.A2696T:p.E899V	.	414	1105	2	1	0	4	0.00180668	.	.	.	3190315	ACTN3-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	.	.	0.0063	0.00938498	0.0021	0.0231	0.0013	0	0	6.063e-05	0.0011	0.0001	0.0019922	308	154602	rs115296201	0.0007	0.0007	0.0008	0.0006	0.0213	0.0006	0.0006	0.0200	0.0195	0.0213	0.0017	0	0	0	0.0005	4.41e-05	0.0021	8.123e-05	0.0067	0.0067	0.0072	0.0062	0.0221	0.0064	0.0062	0.0209	0.0205	0.0221	0	0.0051	0	0	0	0	0.0002	0.0047	0.0004	.	.	.	0.001	0.83351	D	0.994	0.66517	D	0.991	0.79672	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.853	0.84922	.	.	.	.	.	.	.	0.009884447	0.00222	T	.	.	.	.	.	.	.	0.646350757152	0.64342	0.7504966179303331	0.74996	.	.	0.645227849483	0.59308	T	0.459541	0.79708	T	-0.160021	0.26755	T	0.0149499	0.71302	D	.	.	.	0.974702	0.91007	D	0.27640337	0.50702	0.47784647	0.69751	0.27640337	0.50702	0.47784647	0.69751	-14.377	0.94217	D	.	.	0.275	0.50826	B	.;.	.;.	3.782532	0.54398	23.5	0.99095770884811507	0.52346	0.99237	0.93252	D	AEFDGBI	0.941115	0.94395	D	.	.	.	.	.	.	0.99999951500543	0.74766	0.256867	0.04430	0	0.097471	0.02872	0	0.320204	0.05785	0	0.079188	0.02158	0	.	.	5.2	5.2	0.71720	7.417000	0.79365	6.869000	0.56783	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	0.027000	0.12703	1.0:0.0:0.0:0.0	13.074	0.58490	59	0.97452	EF-hand, Ca insensitive;EF-hand, Ca insensitive	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.008056	0.015152	0.012228	0.008772	0.000000	0.000000	0.000000	0.000000	0.07143	1228.45	35	chr11	66563054	.	A	T	1228.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.001;DP=253;ExcessHet=0;FS=5.222;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=20.47;ReadPosRankSum=0.63;SOR=0.965	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:28,32:60:99:0|1:66563053_G_T:1239,0,1079:66563053	6	0	1	0
chr11	66813986	66813986	T	C	exonic	C11orf80	.	nonsynonymous SNV	C11orf80:NM_001302084:exon8:c.T665C:p.I222T,C11orf80:NM_024650:exon10:c.T1160C:p.I387T	.	426	1094	1	1	0	3	0.00136924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	.	0.0058	0.00798722	0.0017	0.0187	0.0011	0	0	4.552e-05	0.0011	6.141e-05	0.0016494	255	154602	rs76978816	0.0005	0.0005	0.0006	0.0005	0.0174	0.0005	0.0005	0.0162	0.0158	0.0174	0.0013	0	0	0	0.0003	5.038e-05	0.0015	6.958e-05	0.0053	0.0053	0.0057	0.0049	0.0176	0.0050	0.0049	0.0165	0.0161	0.0176	0	0.0039	0	0	0	0	0.0001	0.0038	0.0002	0.088	0.32296	T	0.246	0.26631	T	0.003	0.12183	B	0.001	0.04355	B	0.786500	0.06685	N	1.113020	1	0.08975	N	.	.	.	1.37	0.34253	T	-1.12	0.39119	N	0.306	0.36254	-1.0305	0.20292	T	0.013	0.05273	T	10	0.0035011172	0.00062	T	.	.	.	0.016	0.02506	.	.	0.0954503805726	0.09146	0.09693965474859834	0.09625	0.080175271313	0.09021	.	.	.	.	.	.	-0.677906	0.00049	T	-0.732262	0.04226	T	0.0031444371425775	0.00033	T	0.727427	0.34191	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.33319	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.887542	0.12611	9.136	0.67440781834770713	0.08355	0.02394	0.06790	N	AEFBI	0.042026	0.06468	N	-1.26478089256686	0.04107	0.1847628	-1.22673943303889	0.05484	0.2614143	0.0132615260979116	0.12441	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	6.17	-1.52	0.08181	-0.148000	0.10203	0.464000	0.18647	0.665000	0.62972	0.015000	0.19116	0.243000	0.23865	0.891000	0.42908	0.0:0.2903:0.2824:0.4273	5.036	0.13776	312	0.87382	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.006042	0.015152	0.008152	0.005848	0.000000	0.000000	0.000000	0.000000	0.07143	393.49	33	chr11	66813986	.	T	C	393.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.06;DP=206;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.57;ReadPosRankSum=0.198;SOR=0.527	GT:AD:DP:GQ:PL	0/1:13,16:29:99:404,0,289	6	0	1	0
chr11	66863811	66863811	C	T	exonic	PC	.	nonsynonymous SNV	PC:NM_022172:exon10:c.G1331A:p.S444N,PC:NM_000920:exon11:c.G1331A:p.S444N,PC:NM_001040716:exon12:c.G1331A:p.S444N	Pyruvate carboxylase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.340	0.0403761480499	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.526	0.07746	T	0.513	0.10821	T	0.001	0.07471	B	0.006	0.12133	B	0.000002	0.62929	D	0.096468	0.999867	0.50061	D	0.27	0.09956	N	-1.49	0.81235	T	0.25	0.04456	N	0.597	0.61596	-0.7183	0.59546	T	0.281	0.65280	T	10	0.371042	0.53477	T	0.040376	0.59342	D	0.340	0.66202	0.353	0.35246	0.417919123248	0.41407	.	.	0.828852337507	0.67540	0.812464594841	0.83870	D	0.306455	0.67866	T	-0.0390994	0.46083	T	-0.29394	0.45361	T	0.607176721096039	0.36687	D	0.939506	0.77539	D	0.16597606	0.36904	0.18945736	0.42293	0.16597606	0.36904	0.18945736	0.42293	-5.616	0.42938	T	0.0686599878140657	0.02511	0.139	0.30370	B	.;.;.;.;.	.;.;.;.;.	2.999539	0.40076	21.1	0.94205998637530508	0.24445	0.96446	0.69180	D	AEFDGBI	0.747219	0.68934	D	-0.12521594567028	0.36297	2.09615	0.0861861627878325	0.43852	2.678501	0.999999992442072	0.74766	0.718356	0.82227	0	0.588066	0.40923	0	0.570548	0.19454	0	0.655142	0.61905	0	.	.	5.54	5.54	0.82907	5.305000	0.65541	7.502000	0.59501	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:0.8337:0.1663:0.0	12.661	0.56177	297	0.88113	Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3571	563.75	59	chr11	66863811	.	C	T	563.75	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-2.271;DP=485;ExcessHet=4.7409;FS=172.665;MLEAC=5;MLEAF=0.357;MQ=60;MQRankSum=0;QD=1.36;ReadPosRankSum=1.02;SOR=9.94	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:38,7:45:34:0|1:66863808_C_T:34,0,1150:66863808	2	0	5	0
chr11	68262469	68262469	G	A	exonic	C11orf24	.	nonsynonymous SNV	C11orf24:NM_022338:exon4:c.C526T:p.R176W	.	432	1089	1	0	0	1	0.000458926	.	.	.	2363284	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.050	0.00743372825704	0.0006	0.000599042	0.0006	0.0002	0.0009	0	0	0.0009	0	0.0002	0.0006727	104	154602	rs146708926	0.0013	0.0013	0.0013	0.0012	0.0015	0.0012	0.0012	0.0015	0.0014	0.0002	0.0011	3.826e-05	2.519e-05	3.75e-05	0.0005	0.0015	0.0011	0.0004	0.0009	0.0009	0.0007	0.0010	0.0025	0.0008	0.0007	0.0019	0.0017	0.0001	0	0.0025	0	0	9.409e-05	0	0.0012	0.0019	0.0002	0.012	0.54683	D	0.017	0.60337	D	0.003	0.11197	B	0.001	0.04355	B	0.000089	0.00436	N	5.910790	1	0.08975	N	0	0.06538	N	1.43	0.32958	T	-0.67	0.19297	N	0.059	0.03069	-1.0078	0.27603	T	0.032	0.13811	T	10	0.0075229704	0.00171	T	0.007434	0.19712	T	0.050	0.13987	.	.	0.0138822411134	0.00435	0.15490105745845698	0.15411	0.0511898359225	0.05630	.	.	.	0.003101	0.02504	T	-0.623796	0.00104	T	-0.672181	0.07469	T	0.00976282824097193	0.00128	T	0.480552	0.14510	T	0.04633058	0.07737	0.0312209	0.01680	0.04633058	0.07737	0.0312209	0.01680	-5.593	0.42728	T	.	.	0.099	0.16670	B	.	.	1.275655	0.16750	12.74	0.88819166751791112	0.18281	0.08351	0.14291	N	AEFDBHCI	0.199900	0.32667	N	-1.63529928040788	0.01098	0.04768237	-1.62493706457054	0.01510	0.06839699	0.998760111791242	0.37623	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.24	-1.76	0.07574	0.302000	0.18947	1.238000	0.25088	-0.206000	0.08541	0.000000	0.06391	0.004000	0.18990	0.000000	0.00833	0.2152:0.0:0.4558:0.3289	5.542	0.16331	528	0.73785	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001008	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	503.63	41	chr11	68262469	.	G	A	503.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.236;DP=257;ExcessHet=0;FS=1.412;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.74;ReadPosRankSum=0.837;SOR=0.741	GT:AD:DP:GQ:PL	0/1:14,18:32:99:514,0,400	6	0	1	0
chr11	69085836	69085848	CTGCCCCCGCAGG	-	exonic	TPCN2	.	frameshift deletion	TPCN2:NM_139075:exon22:c.1921delG:p.A641Lfs*9	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1430.5	34	chr11	69085835	.	TCTGCCCCCGCAGG	T	1430.5	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.97;DP=259;ExcessHet=0;FS=1.912;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=19.07;ReadPosRankSum=-0.2;SOR=0.99	GT:AD:DP:GQ:PL	0/1:38,37:75:99:1441,0,1483	6	0	1	0
chr11	74204372	74204372	G	A	exonic	PPME1	.	nonsynonymous SNV	PPME1:NM_001271593:exon3:c.G215A:p.S72N,PPME1:NM_016147:exon3:c.G215A:p.S72N	.	420	1098	4	0	0	4	0.00181818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.00138245968726	8.4e-05	0.000199681	0.0003	0.0001	0	0	0	3.146e-05	0.0023	0.0017	0.000207	32	154602	rs369439716	0.0001	0.0001	6.948e-05	0.0002	0.0017	0.0001	0.0001	0.0013	0.0012	2.988e-05	0	3.829e-05	0	0	0.0017	2.52e-05	0.0002	0.0015	0.0001	0.0001	8.993e-05	0.0002	0.0027	9.141e-05	7.698e-05	0.0016	0.0013	4.81e-05	0	0	0	0	0	0	8.819e-05	0	0.0027	0.261	0.16520	T	0.338	0.18125	T	0.103	0.25884	B	0.029	0.21540	B	0.228946	0.15964	N	0.677027	0.999999	0.58761	D	1.67	0.42885	L	.	.	.	-0.93	0.24898	N	0.649	0.66016	-0.7024	0.60323	T	0.008	0.02679	T	10	0.030573457	0.01185	T	0.001382	0.02011	T	0.112	0.31546	.	.	0.268702046668	0.26493	0.7938988974166172	0.79342	0.420246171216	0.42557	0.809952616692	0.83485	D	0.167582	0.51426	T	-0.2954	0.09100	T	-0.221726	0.52570	T	0.046417266819622	0.04859	T	0.875013	0.59164	D	0.2955647	0.52504	0.139747	0.33333	0.2955647	0.52504	0.139747	0.33332	-7.268	0.55967	T	.	.	0.298	0.52857	B	.;.	.;.	3.991644	0.58755	24.0	0.99347124342184123	0.60412	0.96047	0.67293	D	AEFBCI	0.891964	0.82843	D	0.218062929254962	0.52074	3.384047	0.413064462264707	0.62376	4.452192	0.999999999997148	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.724815	0.87919	0	0.613276	0.41899	0	.	.	5.93	5.93	0.95888	9.092000	0.93505	11.670000	0.94091	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	19.125	0.93365	694	0.58444	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.007576	0.1429	1427.44	35	chr11	74204372	.	G	A	1427.44	.	AC=2;AF=0.143;AN=14;BaseQRankSum=2.02;DP=254;ExcessHet=0.3476;FS=2.424;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=12.52;ReadPosRankSum=-0.894;SOR=0.996	GT:AD:DP:GQ:PL	0/1:21,19:40:99:423,0,484	5	0	2	0
chr11	78200699	78200699	C	T	exonic	USP35	.	nonsynonymous SNV	USP35:NM_020798:exon6:c.C1088T:p.S363L	.	436	1053	32	1	0	34	0.0158879	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	.	0.0042	0.00379393	0.0056	0.0013	0.0011	0	0.0032	0.0059	0.0067	0.0144	0.0054074	836	154602	rs147270370	0.0054	0.0055	0.0051	0.0058	0.0155	0.0053	0.0053	0.0148	0.0145	0.0009	0.0026	0.0087	7.557e-05	0.0031	0.0071	0.0051	0.0066	0.0155	0.0044	0.0044	0.0047	0.0041	0.0124	0.0042	0.0041	0.0099	0.0090	0.0009	0.0263	0.0034	0.0092	0	0.0023	0.0170	0.0064	0.0052	0.0124	0.292	0.28395	T	0.14	0.33554	T	0.422	0.35435	B	0.041	0.23986	B	0.000071	0.52346	D	0.000000	0.992527	0.81001	D	0.205	0.09354	N	-0.24	0.68030	T	-1.35	0.37375	N	0.767	0.76481	-0.9361	0.43226	T	0.112	0.40052	T	10	0.0058319867	0.00130	T	.	.	.	0.118	0.32913	.	.	0.435808882951	0.43200	0.5387993112169235	0.53804	0.0731156517845	0.08196	0.591109752655	0.51651	T	0.021335	0.16634	T	-0.198357	0.21042	T	-0.0453791	0.67336	D	0.0174324986417092	0.00480	T	0.90111	0.65969	D	0.25085986	0.48090	0.14574388	0.34554	0.25085986	0.48090	0.14574388	0.34553	-6.214	0.48036	T	.	.	0.214	0.59016	B	.;.;.	.;.;.	3.423610	0.47552	22.5	0.98669950564986297	0.44456	0.97537	0.75396	D	AEFDGBI	0.403434	0.47712	N	-0.00792238119281392	0.41496	2.483102	0.159738799392151	0.47660	2.99292	0.999999721442655	0.74766	0.646311	0.45356	0	0.593476	0.48661	0	0.645312	0.48771	0	0.635551	0.53088	0	.	.	4.73	4.73	0.59485	3.791000	0.55173	7.353000	0.58305	0.599000	0.40250	0.992000	0.37556	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	17.913	0.88860	615	0.66512	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007553	0.005051	0.004076	0.002924	0.000000	0.008621	0.012195	0.011364	0.07143	370.53	30	chr11	78200699	.	C	T	370.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.789;DP=210;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.9;ReadPosRankSum=1.4;SOR=0.929	GT:AD:DP:GQ:PL	0/1:17,17:34:99:381,0,351	6	0	1	0
chr11	78672218	78672218	G	A	exonic	TENM4	.	nonsynonymous SNV	TENM4:NM_001098816:exon31:c.C5608T:p.R1870W	Tremor, hereditary essential, 5, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.599	0.192920723176	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1450015058	6.841e-06	6.841e-06	8.168e-06	5.501e-06	4.472e-05	3.46e-06	2.52e-06	7.41e-06	2.77e-06	0	4.472e-05	0	2.519e-05	0	0	3.598e-06	4.969e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.002	0.83351	D	1.0	0.90584	D	0.993	0.81110	D	0.000000	0.84330	D	0.000000	0.999843	0.49770	D	2.005	0.54552	M	-2.89	0.91589	D	-5.9	0.88839	D	0.918	0.92084	0.739	0.93656	D	0.829	0.94256	D	9	0.8235949	0.81549	D	0.192921	0.86273	D	0.599	0.84128	0.523	0.62668	0.802885583111	0.80104	0.6558839650432756	0.65524	0.888729963639	0.70121	0.790791511536	0.80564	T	0.718993	0.92043	D	0.319887	0.84466	D	0.304584	0.88407	D	0.994478106498718	0.85785	D	0.989945	0.96848	D	0.67360944	0.76626	0.6441225	0.79198	0.67360944	0.76628	0.6441225	0.79198	-9.207	0.69019	D	0.5107279776403439	0.58452	0.399	0.59499	A	.;.	.;.	5.169166	0.86639	29.0	0.99923344304079487	0.98917	0.89032	0.49260	D	AEFDBI	0.783966	0.71479	D	0.484966535668828	0.66212	4.920996	0.444874810149228	0.64388	4.692901	0.00436210589121749	0.10516	0.580535	0.33130	0	0.573888	0.26702	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	5.55	3.48	0.38946	1.604000	0.36415	4.035000	0.41373	0.672000	0.70159	0.973000	0.34540	1.000000	0.68203	0.989000	0.64315	0.0:0.0:0.5176:0.4824	13.354	0.60057	881	0.29269	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1343.44	34	chr11	78672218	.	G	A	1343.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.263;DP=292;ExcessHet=0;FS=1.539;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.44;ReadPosRankSum=-0.729;SOR=0.543	GT:AD:DP:GQ:PL	0/1:51,57:108:99:1354,0,1350	6	0	1	0
chr11	95026776	95026776	T	G	exonic	KDM4E	.	nonsynonymous SNV	KDM4E:NM_001161630:exon1:c.T1219G:p.F407V	.	433	1082	7	0	0	7	0.00322432	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	.	0.0072	0.00279553	0.0059	0.0006	0.0099	0	0	0.0068	0	0.0065	0.0020116	311	154602	rs143234858	0.0104	0.0098	0.0105	0.0102	0.0120	0.0102	0.0102	0.0118	0.0117	0.0016	0.0037	0.0005	0	0.0107	0.0026	0.0120	0.0085	0.0047	0.0068	0.0068	0.0074	0.0061	0.0113	0.0064	0.0063	0.0107	0.0104	0.0019	0	0.0032	0.0009	0	0.0093	0.0034	0.0113	0.0066	0.0033	0.436	0.09374	T	0.333	0.18395	T	0.002	0.09854	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	0.205	0.09354	N	1.77	0.25841	T	0.79	0.01893	N	0.097	0.07811	-0.9890	0.32853	T	0.019	0.07846	T	9	0.004265785	0.00085	T	.	.	.	0.003	0.00094	.	.	0.043077524339	0.03247	0.15765746771663278	0.15686	0.463039974516	0.45817	0.356590986252	0.18889	T	0.001397	0.00857	T	-0.666727	0.00057	T	-0.719452	0.04823	T	0.000738389523539531	0.00007	T	0.217178	0.02724	T	0.02557602	0.01512	0.033147153	0.02162	0.02557602	0.01512	0.033147153	0.02161	-2.47	0.05580	T	.	.	0.080	0.07650	B	.	.	-0.385564	0.02267	0.234	0.33409785763846811	0.01988	0.00132	0.00814	N	AEFDBI	0.024669	0.01565	N	-1.29220034184438	0.03768	0.168928	-1.37451679846921	0.03525	0.1646331	0.536882318896718	0.21221	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.27	-1.49	0.08259	-0.394000	0.07357	-4.566000	0.02092	-1.134000	0.01451	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4209:0.3167:0.2625	2.449	0.04238	944	0.12746	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001111	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.010638	0.07143	559.49	41	chr11	95026776	.	T	G	559.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.746;DP=286;ExcessHet=0;FS=5.023;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.88;ReadPosRankSum=1.16;SOR=0.419	GT:AD:DP:GQ:PL	0/1:46,25:71:99:570,0,1172	6	0	1	0
chr11	96384648	96384648	T	C	exonic	CCDC82	.	nonsynonymous SNV	CCDC82:NM_001318737:exon4:c.A100G:p.I34V,CCDC82:NM_001363594:exon4:c.A100G:p.I34V,CCDC82:NM_024725:exon4:c.A100G:p.I34V,CCDC82:NM_001318736:exon5:c.A100G:p.I34V	.	442	1077	2	1	0	4	0.00185357	.	.	.	2813695	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.010	0.00405633087208	0.0049	0.00159744	0.0062	0.0023	0.0049	0	0.0032	0.0085	0.0077	0.0048	0.0061448	950	154602	rs61746142	0.0085	0.0085	0.0087	0.0083	0.0100	0.0083	0.0083	0.0099	0.0098	0.0012	0.0033	0.0003	0	0.0043	0.0010	0.0100	0.0068	0.0047	0.0050	0.0050	0.0051	0.0049	0.0083	0.0047	0.0046	0.0077	0.0075	0.0020	0	0.0037	0	0.0004	0.0040	0.0034	0.0083	0.0014	0.0012	0.109	0.30235	T	0.485	0.11725	T	0.057	0.25382	B	0.008	0.21085	B	0.167116	0.17485	N	0.547247	0.999998	0.08975	N	1.355	0.33814	L	1.64	0.36330	T	-0.41	0.24026	N	0.084	0.06059	-1.0580	0.12260	T	0.037	0.15856	T	10	0.004320413	0.00087	T	0.004056	0.09650	T	0.010	0.01040	.	.	0.128392430309	0.12331	0.03246650822448868	0.03194	0.0558040157175	0.06170	0.323720544577	0.13984	T	0.005127	0.04570	T	-0.586136	0.00177	T	-0.604333	0.12449	T	0.000532614131962509	0.00004	T	0.632737	0.25562	T	0.025093345	0.01409	0.03949914	0.04056	0.025093345	0.01409	0.03949914	0.04056	-3.114	0.14748	T	.	.	0.080	0.30555	B	.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.	0.140784	0.05347	1.832	0.87427180107164959	0.17219	0.12635	0.17388	N	AEFDGBCI	0.057984	0.10845	N	-0.920064602714276	0.10374	0.4953863	-0.934372669290222	0.11287	0.5740504	0.99588090631717	0.34386	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.03	-0.339	0.12019	-0.705000	0.05154	-0.204000	0.10916	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.845000	0.39915	0.0:0.0809:0.4346:0.4844	7.478	0.26559	.	.	.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.003021	0.005051	0.002717	0.002924	0.000000	0.000000	0.006098	0.000000	0.07143	1049.44	42	chr11	96384648	.	T	C	1049.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.04;DP=325;ExcessHet=0;FS=0.707;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.29;ReadPosRankSum=2.01;SOR=0.784	GT:AD:DP:GQ:PL	0/1:66,47:113:99:1060,0,1640	6	0	1	0
chr11	102775202	102775202	A	G	exonic	MMP10	.	nonsynonymous SNV	MMP10:NM_002425:exon7:c.T1052C:p.V351A	.	.	.	.	.	.	.	.	.	.	.	2370968	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.053	0.00592495614423	.	.	8.564e-05	0	0	0	0	0.0002	0	0	7.12e-05	11	154602	rs201248623	7.286e-05	7.456e-05	7.446e-05	7.124e-05	0.0012	6.134e-05	5.675e-05	0.0006	0.0004	3.043e-05	0	0.0017	0	0	0.0012	3.899e-05	0.0002	0	8.545e-05	8.538e-05	0.0001	6.727e-05	7.352e-05	4.959e-05	3.964e-05	2.847e-05	1.859e-05	0	0	0	0.0023	0	0	0	7.352e-05	0	0	0.025	0.47320	D	0.027	0.55341	D	1.0	0.90584	D	1.0	0.97372	D	0.327313	0.14172	N	0.606658	1	0.08975	N	2.49	0.72568	M	4.11	0.02916	T	-3.37	0.66665	D	0.431	0.47022	-1.0483	0.14875	T	0.024	0.10284	T	10	0.09551877	0.17065	T	0.005925	0.15430	T	0.053	0.14996	.	.	0.311387274539	0.30754	0.7331489841672488	0.73259	0.0397582316544	0.04249	0.353751987219	0.18473	T	0.161217	0.50538	T	-0.303548	0.08329	T	-0.492891	0.23087	T	0.982672333717346	0.74634	D	0.669833	0.27843	T	0.13769291	0.31873	0.17728305	0.40320	0.13769291	0.31873	0.17728305	0.40319	-6.97	0.53814	T	.	.	0.251	0.48561	B	.	.	2.440107	0.31407	18.73	0.98986417993702669	0.49841	0.15222	0.18805	N	AEFI	0.096428	0.19467	N	-0.105063175976889	0.37172	2.158828	-0.31366329384255	0.27656	1.536214	1.1303491965864E-5	0.02871	0.706298	0.61202	0	0.573888	0.26702	0	0.618467	0.43123	0	0.613276	0.41899	0	.	.	4.23	3.1	0.34780	3.134000	0.50233	5.241000	0.48062	0.751000	0.87719	0.027000	0.20232	0.999000	0.35428	0.463000	0.28185	0.8309:0.0:0.1691:0.0	8.024	0.29586	768	0.49510	Hemopexin-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	174.53	17	chr11	102775202	.	A	G	174.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.86;DP=148;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.64;ReadPosRankSum=0.11;SOR=0.892	GT:AD:DP:GQ:PL	0/1:7,8:15:99:185,0,143	6	0	1	0
chr11	108271322	108271322	T	G	exonic	ATM	.	nonsynonymous SNV	ATM:NM_000051:exon20:c.T2993G:p.V998G,ATM:NM_001351834:exon21:c.T2993G:p.V998G	Ataxia-telangiectasia, Autosomal recessive;Lymphoma, B-cell non-Hodgkin, somatic (3);Lymphoma, mantle cell, somatic (3);T-cell prolymphocytic leukemia, somatic (3)	.	.	.	.	.	.	.	.	.	YES	1339189	Hereditary_cancer-predisposing_syndrome|Ataxia-telangiectasia_syndrome	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900,Orphanet:100	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.321	0.174173598399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.83351	D	0.331	0.33259	B	0.155	0.34417	B	0.002179	0.37095	N	0.292374	0.90718	0.27583	N	2.52	0.73523	M	-0.37	0.68892	T	-3.42	0.67241	D	0.43	0.57092	-0.5981	0.64895	T	0.255	0.62530	T	10	0.35413826	0.52204	T	0.174174	0.85064	D	0.321	0.64318	0.475	0.55182	0.861009271105	0.85966	0.4730220890422419	0.47221	0.230515957003	0.25597	0.392387211323	0.24005	T	0.258485	0.62964	T	0.156173	0.69844	D	-0.0134454	0.69459	D	0.915135324001312	0.57204	D	0.562944	0.19809	T	0.1783063	0.38842	0.14759818	0.34923	0.1783063	0.38842	0.14759818	0.34922	-6.09	0.47026	T	0.7518491501624083	0.83391	0.382	0.58564	A	.;.;.	.;.;.	4.685599	0.75034	26.3	0.98036514820968335	0.37751	0.92715	0.56369	D	AEFBI	0.429650	0.49268	N	0.0658705109782523	0.44877	2.753773	0.133235069316772	0.46259	2.87485	0.150963880409304	0.17439	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.8	5.8	0.92081	4.483000	0.59995	7.817000	0.69620	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.834000	0.39329	0.0:0.0794:0.0:0.9206	10.774	0.45540	144	0.94257	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	564.53	38	chr11	108271322	.	T	G	564.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.065;DP=248;ExcessHet=0;FS=2.696;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.13;ReadPosRankSum=-1.7;SOR=0.473	GT:AD:DP:GQ:PL	0/1:18,25:43:99:575,0,427	6	0	1	0
chr11	108304736	108304736	A	T	exonic	ATM	.	nonsynonymous SNV	ATM:NM_000051:exon37:c.A5558T:p.D1853V,ATM:NM_001351834:exon38:c.A5558T:p.D1853V	Ataxia-telangiectasia, Autosomal recessive;Lymphoma, B-cell non-Hodgkin, somatic (3);Lymphoma, mantle cell, somatic (3);T-cell prolymphocytic leukemia, somatic (3)	1	1498	21	2	0	25	0.00827541	.	.	YES	137362	Hereditary_breast_ovarian_cancer_syndrome|not_specified|Familial_cancer_of_breast|Ataxia-telangiectasia_syndrome|Breast_and/or_ovarian_cancer|Malignant_tumor_of_breast|Hereditary_cancer-predisposing_syndrome|not_provided	MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145|MedGen:CN169374|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900,Orphanet:100|MedGen:CN221562|MONDO:MONDO:0007254,MedGen:C0006142|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.589	0.421415473121	0.0048	0.00179712	0.0052	0.0012	0.0024	0	0.0026	0.0069	0.0055	0.0064	0.004987	771	154602	rs1801673	0.0049	0.0049	0.0048	0.0049	0.0058	0.0048	0.0048	0.0054	0.0052	0.0005	0.0032	0.0071	5.041e-05	0.0036	0.0038	0.0052	0.0050	0.0058	0.0044	0.0044	0.0046	0.0042	0.0073	0.0041	0.0040	0.0068	0.0066	0.0008	0.0077	0.0029	0.0072	0.0002	0.0029	0	0.0073	0.0024	0.0050	0.006	0.61437	D	0.007	0.69154	D	0.881	0.48446	P	0.423	0.45170	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.51	0.73131	M	-0.75	0.73311	T	-4.52	0.78302	D	0.666	0.78832	-0.1943	0.77818	T	0.330	0.69800	T	10	0.016077608	0.00338	T	0.421415	0.93800	D	0.589	0.83582	.	.	0.862668985381	0.86133	0.5754807337306314	0.57477	0.230346816679	0.25583	0.484472572803	0.36672	T	0.26251	0.63409	T	0.0244139	0.54975	T	0.267279	0.86437	D	0.032220271790473	0.02342	T	0.90061	0.65471	D	0.6116418	0.73316	0.329566	0.58835	0.6022599	0.72813	0.26657072	0.52504	-7.74	0.59285	D	0.4752428700619266	0.55493	0.417	0.60512	A	.;.	.;.	4.271423	0.64994	24.8	0.99282703511633685	0.57973	0.97398	0.74496	D	AEFGBI	0.662245	0.63218	D	0.535458318470551	0.69203	5.323629	0.570547549243884	0.72837	5.873341	0.999923395911117	0.46280	0.732398	0.92422	0	0.743671	0.97443	0	0.65145	0.50148	0	0.683762	0.67416	0	.	.	5.52	5.52	0.82153	5.468000	0.66473	7.973000	0.76046	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	1.0:0.0:0.0:0.0	15.936	0.79492	145	0.94217	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.003021	0.000000	0.002717	0.000000	0.000000	0.000000	0.003049	0.011364	0.07143	190.49	37	chr11	108304736	.	A	T	190.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.08;DP=204;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.62;ReadPosRankSum=-1.027;SOR=0.582	GT:AD:DP:GQ:PL	0/1:15,10:25:99:201,0,341	6	0	1	0
chr11	108512066	108512066	C	A	exonic	EXPH5	.	nonsynonymous SNV	EXPH5:NM_001144765:exon3:c.G2877T:p.M959I,EXPH5:NM_001144764:exon4:c.G2973T:p.M991I,EXPH5:NM_001144763:exon6:c.G3213T:p.M1071I,EXPH5:NM_015065:exon6:c.G3441T:p.M1147I,EXPH5:NM_001308019:exon7:c.G3420T:p.M1140I	Epidermolysis bullosa, nonspecific, autosomal recessive, Autosomal recessive	433	1079	9	1	0	11	0.00507146	.	.	.	701549	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.029	0.00356705609164	0.0042	0.00319489	0.0044	0.0014	0.0010	0.0005	0.0011	0.0061	0.0011	0.0057	0.0044049	681	154602	rs34012545	0.0058	0.0058	0.0057	0.0058	0.0066	0.0057	0.0056	0.0065	0.0064	0.0011	0.0012	0.0068	5.04e-05	0.0013	0.0009	0.0066	0.0046	0.0053	0.0040	0.0040	0.0041	0.0039	0.0066	0.0037	0.0036	0.0061	0.0059	0.0015	0	0.0022	0.0037	0	0.0014	0.0034	0.0066	0.0033	0.0048	0.436	0.09374	T	0.306	0.19972	T	.	.	.	.	.	.	0.367039	0.13584	N	0.702507	1	0.08975	N	.	.	.	4.39	0.03836	T	-0.47	0.16393	N	0.04	0.03613	-0.9843	0.33998	T	0.004	0.01470	T	10	0.0038924813	0.00074	T	0.003567	0.08154	T	0.029	0.06676	0.154	0.05752	0.115124310173	0.11017	0.0948001730633443	0.09412	0.0431053341588	0.04645	0.230860114098	0.02032	T	0.017766	0.14435	T	-0.667682	0.00057	T	-0.726587	0.04483	T	0.00373458209670396	0.00040	T	0.354665	0.08016	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.36495	B	.;.;.;.	.;.;.;.	-2.261242	0.00056	0.001	0.61618362058428144	0.06754	0.01714	0.05438	N	AEFDGBIJ	0.085099	0.17251	N	-1.89915804497989	0.00345	0.01480627	-2.00668450028868	0.00297	0.01309371	0.999999999857309	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	5.77	-11.5	0.00057	-2.639000	0.00938	-2.204000	0.04061	-1.911000	0.00515	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1961:0.5143:0.0:0.2895	8.088	0.29948	819	0.41190	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.003525	0.000000	0.000000	0.000000	0.000000	0.000000	0.009146	0.003788	0.07143	316.44	38	chr11	108512066	.	C	A	316.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.226;DP=257;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=6.73;ReadPosRankSum=1.12;SOR=0.804	GT:AD:DP:GQ:PL	0/1:30,17:47:99:327,0,855	6	0	1	0
chr11	108665284	108665284	C	G	exonic	DDX10	.	nonsynonymous SNV	DDX10:NM_004398:exon1:c.C131G:p.P44R	.	.	.	.	.	.	.	.	.	.	.	701552	DDX10-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.112	0.152899151302	0.0014	0.000599042	0.0020	0.0006	0.0011	0	0.0017	0.0032	0.0011	6.193e-05	0.0019922	308	154602	rs149622934	0.0025	0.0025	0.0026	0.0025	0.0027	0.0025	0.0024	0.0026	0.0026	0.0005	0.0010	0.0147	0	0.0016	0.0003	0.0027	0.0028	0.0001	0.0020	0.0020	0.0022	0.0019	0.0029	0.0019	0.0018	0.0025	0.0024	0.0006	0	0.0010	0.0182	0.0002	0.0009	0	0.0029	0.0009	0	0.076	0.37326	T	0.235	0.26306	T	0.998	0.73220	D	0.902	0.64047	P	0.000059	0.53742	D	0.202806	0.999817	0.49394	D	2.17	0.60663	M	1.14	0.38556	T	-2.11	0.48020	N	0.551	0.61764	-0.9770	0.35683	T	0.155	0.48550	T	10	0.007487476	0.00170	T	0.152899	0.83425	D	0.112	0.31546	.	.	0.633018970913	0.63001	0.5282833499407419	0.52752	0.394364968837	0.40593	0.645140051842	0.59295	T	0.011103	0.09952	T	-0.321875	0.06746	T	-0.235409	0.51246	T	0.0461818260257115	0.04817	T	0.849215	0.53152	T	0.2877102	0.51779	0.32508358	0.58426	0.2877102	0.51779	0.32508358	0.58426	-11.773	0.83727	D	.	.	0.194	0.46049	B	.;.	.;.	4.617019	0.73272	26.0	0.99672887424008916	0.78717	0.72724	0.35587	D	ALL	0.432954	0.49462	N	0.352017927762803	0.58845	4.059452	0.356677706135384	0.58911	4.06476	0.999999999999752	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.34	4.43	0.52967	4.387000	0.59391	7.357000	0.58325	0.462000	0.21616	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:0.9188:0.0:0.0812	12.079	0.52956	711	0.56613	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.07143	456.45	41	chr11	108665284	.	C	G	456.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.787;DP=228;ExcessHet=0;FS=2.879;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.34;ReadPosRankSum=1.18;SOR=0.352	GT:AD:DP:GQ:PL	0/1:14,23:37:99:467,0,295	6	0	1	0
chr11	110579560	110579560	A	G	exonic	ARHGAP20	.	nonsynonymous SNV	ARHGAP20:NM_001258415:exon15:c.T3317C:p.V1106A,ARHGAP20:NM_001258417:exon15:c.T3278C:p.V1093A,ARHGAP20:NM_001258418:exon15:c.T3278C:p.V1093A,ARHGAP20:NM_001384657:exon15:c.T3386C:p.V1129A,ARHGAP20:NM_001258416:exon16:c.T3308C:p.V1103A,ARHGAP20:NM_020809:exon16:c.T3386C:p.V1129A	.	.	.	.	.	.	.	.	.	.	.	4042600	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.036	0.0039910432544	.	.	4.944e-05	0	0	0	0	0	0	0.0004	3.88e-05	6	154602	rs775605659	2.668e-05	2.668e-05	1.634e-05	3.714e-05	0.0005	1.998e-05	1.754e-05	0.0003	0.0003	0	0	0	0	0	0	0	0	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.459	0.10311	T	0.322	0.20037	T	0.001	0.09854	B	0.002	0.10090	B	0.714168	0.06275	N	1.156790	1	0.08975	N	1.845	0.48678	L	2.7	0.12268	T	-0.49	0.15578	N	0.039	0.02759	-0.9464	0.41582	T	0.016	0.06521	T	10	0.02541697	0.00737	T	0.003991	0.09462	T	0.036	0.09122	0.103	0.01643	0.117506650769	0.11410	0.1868770552063971	0.18605	0.129938835031	0.14657	0.283747285604	0.08021	T	0.02956	0.21156	T	-0.646469	0.00076	T	-0.816953	0.01515	T	0.0249811481058522	0.01270	T	0.505449	0.15971	T	0.03233241	0.03238	0.035887375	0.02927	0.03233241	0.03238	0.035887375	0.02927	-2.719	0.07464	T	.	.	0.075	0.26200	B	.;.;.;.;.;.	.;.;.;.;.;.	0.751715	0.11215	7.847	0.9522706550420581	0.26453	0.03520	0.08703	N	AEFBI	0.091896	0.18609	N	-1.18909962203163	0.05164	0.2347706	-1.21597358187187	0.05653	0.2699297	0.017080988799986	0.12909	0.553676	0.25195	0	0.563428	0.19063	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.91	-6.42	0.01760	-0.609000	0.05731	0.118000	0.14877	-0.057000	0.16691	0.000000	0.06391	0.000000	0.08366	0.824000	0.38829	0.2731:0.3156:0.3005:0.1107	2.306	0.03918	752	0.51611	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	525.83	36	chr11	110579560	.	A	G	525.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.68;DP=220;ExcessHet=0;FS=1.303;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.84;ReadPosRankSum=0.088;SOR=1.115	GT:AD:DP:GQ:PL	0/1:18,20:38:99:536,0,417	6	0	1	0
chr11	111495236	111495236	G	C	exonic	BTG4	.	nonsynonymous SNV	BTG4:NM_001367974:exon5:c.C589G:p.L197V,BTG4:NM_001367975:exon5:c.C589G:p.L197V,BTG4:NM_017589:exon5:c.C589G:p.L197V	.	.	.	.	.	.	.	.	.	.	.	2363305	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.074	0.00218107779796	.	0.000199681	0.0002	0	8.651e-05	0	0	0	0	0.0011	0.0001294	20	154602	rs533540949	7.874e-05	8.003e-05	5.722e-05	0.0001	0.0013	6.673e-05	6.207e-05	0.0011	0.0010	0	0	0	0	0	0	8.997e-07	6.627e-05	0.0013	5.255e-05	5.906e-05	1.285e-05	9.407e-05	0.0017	2.557e-05	1.83e-05	0.0008	0.0006	0	0	0	0	0	0	0	0	0	0.0017	0.343	0.12592	T	0.11	0.37310	T	0.003	0.11197	B	0.005	0.11217	B	0.039138	0.24205	N	0.381467	0.996996	0.22829	N	1.795	0.47270	L	.	.	.	-0.13	0.08971	N	0.112	0.09914	-0.8032	0.54956	T	0.209	0.56812	T	9	0.013045937	0.00278	T	0.002181	0.04098	T	0.074	0.21613	0.312	0.28612	0.230578612272	0.22657	0.47760584671852635	0.47680	0.175110475986	0.19712	0.262312561274	0.05169	T	0.071342	0.34184	T	-0.487133	0.00674	T	-0.513043	0.21001	T	0.04257882489028	0.04161	T	0.616038	0.23564	T	0.08815869	0.20557	0.075014435	0.16470	0.08815869	0.20556	0.075014435	0.16470	-3.587	0.17669	T	.	.	0.073	0.04806	B	.	.	0.594163	0.09625	6.399	0.95818524909112812	0.27904	0.39239	0.26168	N	AEFBI	0.065448	0.12765	N	-0.457264818534474	0.23495	1.262088	-0.407844878559921	0.24766	1.358102	0.00243467355576743	0.09427	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.88	3.86	0.43689	0.152000	0.16120	1.188000	0.24745	0.672000	0.70159	0.020000	0.19661	0.717000	0.26328	0.054000	0.15518	0.0:0.284:0.7159:0.0	14.215	0.65329	165	0.93588	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	217.27	33	chr11	111495236	.	G	C	217.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.43;DP=205;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=6.04;ReadPosRankSum=0.488;SOR=0.836	GT:AD:DP:GQ:PL	0/1:24,12:36:99:227,0,581	5	0	1	1
chr11	111926149	111926149	T	C	exonic	C11orf52	.	nonsynonymous SNV	C11orf52:NM_080659:exon4:c.T322C:p.F108L	.	430	1090	2	0	0	2	0.00091659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.295	0.0377522800692	.	0.00199681	0.0010	0	8.642e-05	0.0001	0	1.5e-05	0	0.0073	0.0008991	139	154602	rs587635751	0.0004	0.0004	0.0003	0.0006	0.0066	0.0004	0.0004	0.0062	0.0060	8.961e-05	2.236e-05	0	0	0	0.0005	1.799e-06	0.0006	0.0066	0.0002	0.0002	8.991e-05	0.0003	0.0060	0.0001	0.0001	0.0043	0.0037	2.404e-05	0	0	0	0.0002	0	0	0	0	0.0060	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.996	0.84481	D	0.000020	0.62929	D	0.000000	0.965765	0.38488	D	1.625	0.41611	L	0.38	0.57575	T	-6.0	0.89534	D	0.823	0.81857	-0.5944	0.65044	T	0.234	0.60002	T	10	0.011179507	0.00245	T	0.037752	0.57812	D	0.295	0.61502	0.318	0.29581	0.430579932962	0.42676	0.7528489722663209	0.75231	1.5983681062	0.88651	.	.	.	0.184312	0.53693	T	-0.0614917	0.42673	T	0.142481	0.79707	D	0.116232526030901	0.14057	T	0.709529	0.32034	T	0.88043845	0.89703	0.79103416	0.87710	0.88043845	0.89704	0.79103416	0.87711	-3.919	0.22587	T	.	.	0.975	0.90290	P	.	.	4.055927	0.60153	24.2	0.99755014917074081	0.84615	0.78230	0.38565	D	AEFBCI	0.598824	0.59207	D	0.516494247378367	0.68063	5.166126	0.516446391015151	0.69096	5.311839	0.999999140363464	0.74766	0.538715	0.22204	0	0.475579	0.06741	0	0.78367	0.99111	0	0.656636	0.63459	0	.	.	5.07	5.07	0.68106	4.426000	0.59629	7.627000	0.62562	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.907000	0.44265	0.0:0.0:0.0:1.0	12.316	0.54280	90	0.96275	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	772.49	36	chr11	111926149	.	T	C	772.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.48;DP=228;ExcessHet=0;FS=4.127;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.45;ReadPosRankSum=0.584;SOR=0.289	GT:AD:DP:GQ:PL	0/1:23,27:50:99:783,0,582	6	0	1	0
chr11	113412766	113412766	G	A	exonic	DRD2	.	nonsynonymous SNV	DRD2:NM_016574:exon6:c.C841T:p.P281S,DRD2:NM_000795:exon7:c.C928T:p.P310S	.	1	1487	30	4	0	38	0.0126162	.	.	.	253994	DRD2-associated_Dystonia|not_specified|Dystonic_disorder|not_provided	.|MedGen:CN169374|Human_Phenotype_Ontology:HP:0001332,Human_Phenotype_Ontology:HP:0002328,MONDO:MONDO:0003441,MedGen:C0013421|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.053	0.0120403957927	0.0006	0.000798722	0.0014	0	0.0010	0	0	0.0021	0	0.0010	0.001216	188	154602	rs1800496	0.0011	0.0011	0.0010	0.0011	0.0274	0.0010	0.0010	0.0239	0.0226	0.0008	0.0011	0.0168	0	7.489e-05	0.0274	0.0006	0.0024	0.0012	0.0012	0.0012	0.0012	0.0011	0.0012	0.0010	0.0010	0.0010	0.0009	9.627e-05	0	0.0011	0.0150	0	0	0.0308	0.0012	0.0038	0.0010	0.446	0.09236	T	0.87	0.12072	T	0.0	0.02946	B	0.001	0.06944	B	0.007316	0.31472	N	0.382752	0.856594	0.28418	N	1.18	0.29980	L	-0.52	0.70950	T	-0.3	0.11913	N	0.095	0.07535	-0.9782	0.35413	T	0.131	0.44228	T	10	0.003302753	0.00057	T	0.01204	0.30251	T	0.053	0.14996	.	.	0.635011714626	0.63201	0.2832165131889466	0.28234	0.819110548624	0.67075	0.288126349449	0.08650	T	0.080947	0.36483	T	-0.399698	0.02326	T	-0.392466	0.34263	T	0.00755147470409422	0.00087	T	0.427357	0.25136	T	0.031609956	0.03031	0.044623986	0.05823	0.031609956	0.03031	0.044623986	0.05823	-3.059	0.10831	T	.	.	0.064	0.02145	B	.;.;.;.;.	.;.;.;.;.	1.639653	0.20925	14.97	0.87683899775081209	0.17406	0.93619	0.58715	D	AEFDBI	0.380806	0.46331	N	-0.740278025076547	0.14899	0.7461527	-0.597916278238898	0.19546	1.049245	0.11352656309492	0.16710	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.73	1.56	0.22423	0.409000	0.20803	4.908000	0.45924	0.676000	0.76740	0.998000	0.41325	1.000000	0.68203	0.896000	0.43308	0.0684:0.4643:0.3579:0.1094	7.779	0.28218	860	0.33753	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.021652	0.005051	0.027174	0.061404	0.000000	0.025862	0.003049	0.003788	0.07143	862.45	42	chr11	113412766	.	G	A	862.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.636;DP=335;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=16.59;ReadPosRankSum=-0.51;SOR=0.57	GT:AD:DP:GQ:PL	0/1:22,30:52:99:873,0,577	6	0	1	0
chr11	119048832	119048832	C	T	exonic	HYOU1	.	nonsynonymous SNV	HYOU1:NM_001130991:exon18:c.G2047A:p.G683R,HYOU1:NM_006389:exon18:c.G2047A:p.G683R	.	424	1094	4	0	0	4	0.00182482	.	.	.	1419104	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.092	0.0084839299149	.	.	1.653e-05	0	0	0	0	3.002e-05	0	0	1.94e-05	3	154602	rs782328296	1.573e-05	1.573e-05	1.634e-05	1.513e-05	0.0016	1.048e-05	8.75e-06	0.0008	0.0006	0	0	0	0	0	0.0016	3.597e-06	0.0001	1.16e-05	6.57e-06	6.566e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	0.463	0.12526	T	0.015	0.17086	B	0.032	0.22131	B	0.000617	0.42945	D	0.197476	0.575226	0.81001	D	0.46	0.12951	N	.	.	.	.	.	.	0.197	0.21710	-0.6591	0.62315	T	0.006	0.02131	T	10	0.11076179	0.20716	T	0.008484	0.22432	T	.	.	0.347	0.34274	0.316310170894	0.31242	0.23000971160892422	0.22915	.	.	0.333109050989	0.15404	T	0.10083	0.40701	T	-0.172805	0.24811	T	-0.422353	0.30805	T	0.138056847916953	0.16105	T	.	.	.	0.067721635	0.14692	0.061021037	0.11717	0.067721635	0.14692	0.061021037	0.11716	-6.569	0.50816	T	.	.	0.127	0.31956	B	.;.;.	.;.;.	2.934114	0.38987	20.9	0.90838167159212846	0.20087	0.93064	0.57236	D	AEFDBCI	0.648866	0.62353	D	-0.153948217019382	0.35066	2.009536	0.0204496400212365	0.40666	2.430569	0.999999586239119	0.74766	0.706548	0.73137	0	0.696144	0.67643	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.37	5.37	0.76949	4.134000	0.57751	5.919000	0.51137	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.535000	0.29822	0.0:1.0:0.0:0.0	19.297	0.94112	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	304.45	37	chr11	119048832	.	C	T	304.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.67;DP=225;ExcessHet=0;FS=1.643;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.24;ReadPosRankSum=-2.268;SOR=1.179	GT:AD:DP:GQ:PL	0/1:10,13:23:99:315,0,243	6	0	1	0
chr11	119342609	119342609	C	A	exonic	MFRP	.	nonsynonymous SNV	MFRP:NM_031433:exon11:c.G1374T:p.L458F	Microphthalmia, isolated 5, Autosomal recessive;Nanophthalmos 2	0	1471	50	1	0	52	0.0173681	.	.	.	254020	Isolated_microphthalmia_5|not_provided|not_specified|Retinal_degeneration	MONDO:MONDO:0012605,MedGen:C1970236,OMIM:611040,Orphanet:251279|MedGen:C3661900|MedGen:CN169374|Human_Phenotype_Ontology:HP:0000546,Human_Phenotype_Ontology:HP:0007632,Human_Phenotype_Ontology:HP:0007863,MONDO:MONDO:0004580,MeSH:D012162,MedGen:C0035304	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.109	.	0.0092	0.00698882	0.0085	0.0062	0.0078	0.0001	0.0025	0.0106	0.0129	0.0088	0.0082017	1268	154602	rs145881139	0.0081	0.0081	0.0079	0.0083	0.0314	0.0080	0.0079	0.0277	0.0262	0.0064	0.0081	0.0276	2.519e-05	0.0022	0.0314	0.0080	0.0109	0.0077	0.0089	0.0089	0.0095	0.0083	0.0117	0.0085	0.0084	0.0103	0.0098	0.0065	0.0011	0.0117	0.0309	0	0.0015	0.0680	0.0102	0.0180	0.0070	.	.	.	0.182	0.29249	T	0.744	0.43069	P	0.154	0.34351	B	0.010358	0.29961	N	0.247230	1	0.19486	N	2.62	0.76659	M	.	.	.	.	.	.	0.298	0.33687	-0.8583	0.51384	T	0.136	0.45126	T	9	0.005038619	0.00109	T	.	.	.	.	.	0.434	0.48500	0.627711000292	0.62467	0.18469345112672264	0.18387	.	.	.	.	.	0.063749	0.32256	T	-0.566532	0.00232	T	-0.576172	0.14889	T	0.0294748810528996	0.01909	T	0.642936	0.25461	T	0.18541276	0.39903	0.2185967	0.46569	0.17078535	0.37673	0.2185967	0.46568	-5.476	0.41643	T	0.5842365118693101	0.65103	0.151	0.33504	B	.	.	2.066711	0.26282	17.06	0.99012794696118744	0.50399	0.10667	0.16108	N	AEFDBI	0.234390	0.35716	N	-0.343735241443384	0.27504	1.509477	-0.433842890552151	0.24010	1.312488	0.947910229618793	0.27775	0.59774	0.34471	0	0.563428	0.19063	0	0.596491	0.31596	0	0.613276	0.41899	0	.	.	5.3	1.96	0.25203	-0.031000	0.12237	2.224000	0.31475	0.599000	0.40250	0.000000	0.06391	0.016000	0.20520	0.965000	0.52897	0.0:0.5711:0.4289:0.0	16.728	0.85288	744	0.52588	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.028497	0.045455	0.035326	0.031469	0.000000	0.025862	0.015244	0.007576	0.07143	101.83	36	chr11	119342609	.	C	A	101.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.21;DP=203;ExcessHet=0;FS=5.497;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=6.79;ReadPosRankSum=-1.176;SOR=1.479	GT:AD:DP:GQ:PL	0/1:11,4:15:99:112,0,269	6	0	1	0
chr11	120459278	120459278	C	T	exonic	ARHGEF12	.	nonsynonymous SNV	ARHGEF12:NM_001198665:exon25:c.C2428T:p.R810W,ARHGEF12:NM_001301084:exon26:c.C2176T:p.R726W,ARHGEF12:NM_015313:exon26:c.C2485T:p.R829W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.348	0.0415164341889	.	.	2.487e-05	0	0	0	0	3e-05	0	6.058e-05	1.94e-05	3	154602	rs771854554	1.916e-05	1.984e-05	2.043e-05	1.789e-05	2.339e-05	1.329e-05	1.144e-05	1.627e-05	1.382e-05	0	0	0	0	0	0	2.339e-05	0	2.321e-05	6.573e-06	6.568e-06	0	1.346e-05	6.544e-05	0	0	.	.	0	0	6.544e-05	0	0	0	0	0	0	0	0.003	0.68238	D	0.068	0.45530	T	1.0	0.90584	D	0.989	0.81110	D	0.000607	0.42945	D	0.000000	0.992727	0.41725	D	0.69	0.16971	N	-0.1	0.64264	T	-3.68	0.71519	D	0.486	0.52029	-0.4591	0.70098	T	0.255	0.62507	T	10	0.37285677	0.53609	T	0.041516	0.59970	D	0.348	0.66956	0.558	0.67684	0.580173979466	0.57688	0.4681435899153393	0.46733	1.48703679433	0.86806	0.708996593952	0.68448	T	0.443684	0.78738	T	-0.107039	0.35259	T	-0.210002	0.53696	T	0.538226201310696	0.34038	D	0.916908	0.70254	D	0.62542	0.74053	0.44435433	0.67620	0.62542	0.74054	0.44435433	0.67620	-9.717	0.72200	D	.	.	0.186	0.44553	B	.;.;.	.;.;.	5.124783	0.85741	28.7	0.99923827482590044	0.98917	0.86314	0.45570	D	AEFBI	0.440140	0.49883	N	0.162688122887843	0.49413	3.142105	0.197251904111567	0.49697	3.169748	0.765989034793211	0.23588	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.62	2.34	0.28071	1.910000	0.39557	3.340000	0.37699	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.4181:0.5819:0.0:0.0	16.798	0.85469	900	0.24599	.;Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain;Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	352.83	33	chr11	120459278	.	C	T	352.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.8;DP=197;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.6;ReadPosRankSum=-1.038;SOR=0.941	GT:AD:DP:GQ:PL	0/1:13,15:28:99:363,0,248	6	0	1	0
chr11	123943013	123943013	C	T	exonic	OR6T1	.	nonsynonymous SNV	OR6T1:NM_001005187:exon1:c.G826A:p.V276I	.	433	1016	68	5	0	78	0.0369668	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	.	0.0065	0.0081869	0.0100	0.0008	0.0065	0	0.0012	0.0097	0.0209	0.0280	0.009269	1433	154602	rs139333041	0.0087	0.0087	0.0079	0.0094	0.0477	0.0085	0.0085	0.0430	0.0412	0.0022	0.0061	0.0136	2.519e-05	0.0012	0.0477	0.0077	0.0107	0.0283	0.0068	0.0068	0.0070	0.0066	0.0274	0.0065	0.0063	0.0236	0.0222	0.0011	0.0011	0.0103	0.0138	0.0006	0.0014	0.0408	0.0088	0.0114	0.0274	0.203	0.20154	T	0.203	0.27325	T	0.747	0.43174	P	0.179	0.35808	B	.	.	.	.	1	0.08975	N	0.84	0.21119	L	8.44	0.00229	T	-0.55	0.16799	N	0.035	0.01004	-1.0733	0.08702	T	0.000	0.00075	T	9	0.010153651	0.00227	T	.	.	.	0.060	0.17295	.	.	.	.	0.0191124744557639	0.01865	0.0491267032822	0.05371	0.189285472035	0.00213	T	0.004397	0.03807	T	-0.759818	0.00015	T	-0.843253	0.01051	T	0.00305530430589814	0.00032	T	0.328667	0.06851	T	0.04899516	0.08630	0.032111116	0.01896	0.04899516	0.08629	0.032111116	0.01896	-4.387	0.29381	T	.	.	0.080	0.07937	B	.	.	-0.036252	0.04038	0.931	0.96464211205943551	0.29911	0.10409	0.15924	N	AEFI	0.064385	0.12500	N	-0.838860823313599	0.12325	0.6000964	-0.963892808539815	0.10602	0.5350243	2.32834928764527E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.7	1.72	0.23498	-1.643000	0.02106	-4.186000	0.02293	-0.231000	0.07715	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.2019:0.4776:0.1968:0.1236	1.932	0.03128	883	0.28872	GPCR, rhodopsin-like, 7TM	.	.	HEPACAM	Adipose_Subcutaneous	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.040785	0.050505	0.044837	0.058480	0.000000	0.043103	0.036585	0.022727	0.07143	1767.44	34	chr11	123943013	.	C	T	1767.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.23;DP=292;ExcessHet=0;FS=0.721;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=16.22;ReadPosRankSum=-1.137;SOR=0.612	GT:AD:DP:GQ:PL	0/1:44,65:109:99:1778,0,897	6	0	1	0
chr11	124660795	124660795	C	T	exonic	SIAE	.	nonsynonymous SNV	SIAE:NM_170601:exon3:c.G238A:p.D80N,SIAE:NM_001199922:exon5:c.G133A:p.D45N	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.184	0.025212931977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.901	0.03565	T	0.888	0.03152	T	0.0	0.02946	B	0.001	0.04355	B	0.034542	0.24756	N	0.453686	1	0.08975	N	-1.2	0.00838	N	-1.74	0.83413	D	0.49	0.02993	N	0.195	0.21969	-0.8159	0.54189	T	0.134	0.44700	T	10	0.050790906	0.04864	T	0.025213	0.48187	D	0.184	0.45763	0.538	0.64874	0.181679512989	0.17746	0.5093570460998874	0.50857	0.130256795033	0.14695	0.277605295181	0.07161	T	0.081515	0.36616	T	-0.217306	0.18363	T	-0.549921	0.17333	T	0.033512147492149	0.02556	T	0.666933	0.27600	T	0.016528713	0.00204	0.024147907	0.00430	0.016528713	0.00204	0.024147907	0.00430	-3.842	0.21433	T	.	.	0.061	0.04517	B	.;.;.	.;.;.	-0.414632	0.02158	0.210	0.67214336529550012	0.08288	0.00385	0.01942	N	AEFI	0.028146	0.02428	N	-1.50239083923861	0.01834	0.08041945	-1.44015087639496	0.02860	0.1323713	2.54448629094208E-4	0.06190	0.706548	0.73137	0	0.670034	0.63936	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.84	-2.93	0.05261	-0.269000	0.08626	.	.	-0.266000	0.06809	0.001000	0.13787	0.000000	0.08366	0.118000	0.19084	0.0:0.5005:0.1182:0.3814	8.395	0.31711	814	0.42100	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	495.63	34	chr11	124660795	.	C	T	495.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.529;DP=212;ExcessHet=0;FS=1.561;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=17.09;ReadPosRankSum=0.413;SOR=1.112	GT:AD:DP:GQ:PL	0/1:10,19:29:99:506,0,225	6	0	1	0
chr11	130428225	130428225	-	GCG	exonic	ADAMTS8	.	nonframeshift insertion	ADAMTS8:NM_007037:exon1:c.61_62insCGC:p.L20_L21insP	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0	.	.	0	0	.	0	2.59e-05	4	154602	rs577034799	0.0009	0.0003	0.0009	0.0010	0.0121	0.0008	0.0008	0.0057	0.0040	0	0.0112	0.0014	0	0	0.0121	0.0010	0.0009	0	0.0007	0.0007	0.0007	0.0007	0.0041	0.0005	0.0004	0.0021	0.0015	0.0002	0	0.0041	0.0024	0	0	0	0.0013	0.0020	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	44.96	9	chr11	130428225	.	A	AGCG	44.96	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.59;DP=106;ExcessHet=1.4958;FS=1.17;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=0.96;ReadPosRankSum=1.73;SOR=0.474	GT:AD:DP:GQ:PL	0/1:7,2:9:54:54,0,386	6	0	1	0
chr12	125763	125763	C	T	exonic	IQSEC3	.	nonsynonymous SNV	IQSEC3:NM_001170738:exon3:c.C754T:p.R252W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	.	0.0019	0.000399361	0.0074	0.0046	0	0	0.0328	0.0144	0	0.0005	0.0016171	250	154602	rs201602741	0.0030	0.0029	0.0032	0.0028	0.0035	0.0029	0.0029	0.0034	0.0034	0.0007	0.0004	4.371e-05	5.642e-05	0.0059	0.0002	0.0035	0.0017	9.37e-05	0.0021	0.0021	0.0020	0.0022	0.0036	0.0019	0.0018	0.0032	0.0031	0.0004	0	0.0003	0.0003	0.0002	0.0038	0	0.0036	0.0014	0.0002	0.006	0.61437	D	0.188	0.28669	T	.	.	.	.	.	.	0.446060	0.04788	N	1.363960	1	0.81001	D	0.695	0.17993	N	2.83	0.10771	T	-1.46	0.35792	N	0.463	0.49965	-0.9605	0.39087	T	0.027	0.11618	T	8	0.006051123	0.00136	T	.	.	.	0.044	0.11924	.	.	0.216943180021	0.21308	0.20995897526207175	0.20911	1.15193762352	0.79231	0.682644844055	0.64648	T	0.020973	0.16414	T	-0.531665	0.00375	T	-0.537315	0.18561	T	0.0343610335570862	0.02699	T	0.508249	0.16142	T	0.1011847	0.23898	0.06771879	0.14048	0.1011847	0.23898	0.06771879	0.14048	-6.004	0.46313	T	.	.	0.104	0.18746	B	.	.	3.685048	0.52475	23.2	0.9988050582601663	0.95653	0.94474	0.61282	D	AEFDBI	0.684037	0.64651	D	0.0451312578493685	0.43918	2.675526	0.131446202045695	0.46166	2.867103	0.00136975850296746	0.08479	0.487112	0.14033	0	0.59043	0.45803	0	0.578056	0.29568	0	0.564101	0.26826	0	.	.	5.53	3.57	0.40014	1.177000	0.31578	2.664000	0.33900	-0.985000	0.01878	0.999000	0.42656	0.999000	0.35428	0.247000	0.23184	0.1489:0.7078:0.1433:0.0	10.637	0.44762	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001584	0.000000	0.002740	0.000000	0.050000	0.008772	0.000000	0.000000	0.07143	284.83	35	chr12	125763	.	C	T	284.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.692;DP=199;ExcessHet=0;FS=1.617;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.95;ReadPosRankSum=0.805;SOR=0.34	GT:AD:DP:GQ:PL	0/1:15,11:26:99:295,0,436	6	0	1	0
chr12	6967213	6967213	G	T	exonic	PHB2	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.864e-07	6.84e-07	0	1.381e-06	1.171e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.171e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1281.45	37	chr12	6967213	.	G	T	1281.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.064;DP=293;ExcessHet=0;FS=6.548;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.49;ReadPosRankSum=-0.586;SOR=1.151	GT:AD:DP:GQ:PL	0/1:44,51:95:99:1292,0,1077	6	0	1	0
chr12	10506741	10506741	G	A	exonic	EIF2S3B	.	nonsynonymous SNV	EIF2S3B:NM_001357731:exon1:c.G839A:p.G280D,EIF2S3B:NM_001357734:exon1:c.G839A:p.G280D	.	8	1511	3	0	0	3	0.000991736	.	.	.	2810179	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.305	0.00429326127352	.	0.000399361	0.0033	0.0007	0.0010	0	0.0023	0.0055	0.0022	0	0.0032794	507	154602	rs199779592	0.0057	0.0057	0.0059	0.0055	0.0070	0.0056	0.0055	0.0069	0.0068	0.0008	0.0015	0.0002	0	0.0033	0.0003	0.0070	0.0042	1.159e-05	0.0035	0.0035	0.0040	0.0029	0.0059	0.0032	0.0031	0.0055	0.0053	0.0012	0	0.0031	0	0	0.0019	0	0.0059	0.0028	0	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	.	.	.	.	.	.	-0.01	0.62762	T	-6.77	0.92782	D	0.752	0.75101	-0.6036	0.64668	T	0.226	0.59058	T	6	0.061276555	0.07657	T	0.004293	0.10404	T	0.305	0.62620	.	.	0.550128394979	0.54669	0.862609157137501	0.86224	0.501699088595	0.48549	.	.	.	0.224909	0.58949	T	-0.310228	0.07727	T	-0.207366	0.53946	T	0.114058473018789	0.13839	T	0.981335	0.93623	D	0.81536865	0.84910	0.55783635	0.74422	0.81536865	0.84911	0.55783635	0.74422	-11.865	0.87592	D	.	.	0.976	0.90590	P	.;.	.;.	3.661113	0.52006	23.2	0.99608320350845603	0.74634	0.36320	0.25506	N	AEFGBI	0.181331	0.30865	N	-0.267205732839226	0.30423	1.696202	-0.385955209143464	0.25414	1.397517	3.04374497366635E-5	0.03498	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	2.35	0.366	0.15369	5.009000	0.63753	6.624000	0.56129	-0.510000	0.05000	1.000000	0.71638	1.000000	0.68203	0.109000	0.18697	0.3216:0.0:0.6784:0.0	5.920	0.18317	934	0.15400	.;Translation elongation factor EFTu-like, domain 2	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.07143	967.45	93	chr12	10506741	.	G	A	967.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.104;DP=655;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.87;ReadPosRankSum=-0.756;SOR=0.722	GT:AD:DP:GQ:PL	0/1:55,43:98:99:978,0,1330	6	0	1	0
chr12	10809423	10809423	C	T	exonic	TAS2R9	.	nonsynonymous SNV	TAS2R9:NM_023917:exon1:c.G653A:p.G218E	.	421	1057	42	2	0	46	0.0212963	.	.	.	713304	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.047	.	0.0097	0.0121805	0.0082	0.0200	0.0046	0	0	0.0042	0.0132	0.0263	0.0074708	1155	154602	rs113883583	0.0049	0.0049	0.0041	0.0058	0.0282	0.0048	0.0048	0.0273	0.0269	0.0201	0.0039	0.0184	5.039e-05	0.0005	0.0205	0.0026	0.0064	0.0282	0.0083	0.0083	0.0078	0.0088	0.0278	0.0079	0.0078	0.0240	0.0225	0.0187	0	0.0060	0.0182	0	0.0003	0.0068	0.0026	0.0085	0.0278	0.002	0.72154	D	0.016	0.60972	D	0.996	0.68779	D	0.959	0.70163	D	0.026387	0.25927	U	0.215630	1	0.08975	N	2.32	0.66415	M	5.14	0.01205	T	-5.78	0.87988	D	0.279	0.31590	-1.0726	0.08851	T	0.011	0.04088	T	10	0.004649937	0.00097	T	.	.	.	0.047	0.12962	.	.	0.0846915920261	0.08053	0.031241767503459902	0.03073	0.0320678791834	0.03334	0.253196954727	0.04111	T	0.04032	0.25486	T	-0.559853	0.00254	T	-0.557369	0.16624	T	0.0819738616744035	0.10238	T	.	.	.	0.3881858	0.59903	0.4607451	0.68681	0.3881858	0.59903	0.4607451	0.68681	-7.222	0.55639	T	.	.	0.234	0.46677	B	.	.	2.002613	0.25446	16.76	0.94624989406091298	0.25207	0.17470	0.19851	N	AEFBI	0.083691	0.16956	N	-0.308932895454893	0.28807	1.592075	-0.592638088580168	0.19683	1.057207	1.8890469003529E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.46	1.59	0.22622	0.514000	0.22492	-3.557000	0.02697	-0.949000	0.02041	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.1632:0.6547:0.0:0.1821	5.313	0.15147	822	0.40702	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.07143	354.53	30	chr12	10809423	.	C	T	354.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.733;DP=205;ExcessHet=0;FS=2.218;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=19.7;ReadPosRankSum=0.891;SOR=0.18	GT:AD:DP:GQ:PL	0/1:6,12:18:99:365,0,155	6	0	1	0
chr12	11092054	11092054	A	C	exonic	TAS2R43	.	nonsynonymous SNV	TAS2R43:NM_176884:exon1:c.T176G:p.L59R	.	438	1059	25	0	0	25	0.0116659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	0.000676087455412	0.0011	.	0.0026	0.0025	0.0019	0	0.0002	0.0035	0	0.0024	0.0024385	377	154602	rs199546416	0.0014	0.0063	0.0013	0.0016	0.0027	0.0014	0.0014	0.0017	0.0016	0.0006	0.0019	0.0014	0	0.0004	0.0027	0.0015	0.0012	0.0020	0.0041	0.0088	0.0040	0.0041	0.0051	0.0038	0.0037	0.0044	0.0042	0.0034	0.0138	0.0051	0.0059	0	0.0010	0.0037	0.0049	0.0028	0.0041	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	1	0.08975	N	3.78	0.95251	H	5.52	0.00903	T	-5.86	0.88561	D	0.751	0.75009	-1.0677	0.09926	T	0.020	0.08313	T	9	0.07676786	0.12033	T	6.76E-4	0.00383	T	0.097	0.27909	.	.	0.392239652056	0.38839	0.44651251719554647	0.44569	0.638325900956	0.57558	0.372237861156	0.21153	T	0.089147	0.38311	T	-0.00860295	0.50460	T	-0.250134	0.49803	T	0.225228488445282	0.21722	T	0.949205	0.80472	D	0.75837773	0.81358	0.6548802	0.79795	0.75837773	0.81359	0.6548802	0.79796	-9.046	0.67993	D	.	.	0.321	0.54609	B	.	.	2.448962	0.31530	18.77	0.99561732332247965	0.71831	0.02054	0.06135	N	AEFI	0.046242	0.07655	N	0.0533148695102071	0.44294	2.706165	-0.269043779314605	0.29123	1.629217	3.01214840759549E-5	0.03498	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	1.97	1.97	0.25278	1.889000	0.39352	1.309000	0.25526	0.399000	0.20540	0.021000	0.19753	0.000000	0.08366	0.007000	0.07825	1.0:0.0:0.0:0.0	5.865	0.18019	946	0.12043	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.009062	0.020833	0.006793	0.008264	0.055556	0.017241	0.009146	0.007752	0.07143	108.63	48	chr12	11092054	.	A	C	108.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.01;DP=389;ExcessHet=0;FS=10.813;MLEAC=1;MLEAF=0.071;MQ=53.91;MQRankSum=-4.398;QD=3.5;ReadPosRankSum=2.23;SOR=2.248	GT:AD:DP:GQ:PL	0/1:25,6:31:99:119,0,966	6	0	1	0
chr12	11092088	11092088	G	0	exonic	TAS2R43	.	.	.	.	456	371	599	79	17	774	0.505003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1193.3	59	chr12	11092088	.	G	*	1193.3	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.221;DP=453;ExcessHet=0.4813;FS=11.481;MLEAC=1;MLEAF=0.071;MQ=56.82;MQRankSum=-7.697;QD=4.45;ReadPosRankSum=1.65;SOR=1.245	GT:AD:DP:GQ:PL	0/1:0,20:33:99:1290,469,528	6	0	1	0
chr12	31985100	31985100	T	C	exonic	RESF1	.	nonsynonymous SNV	RESF1:NM_018169:exon4:c.T4145C:p.V1382A	.	425	1096	1	0	0	1	0.000455996	.	.	.	3593365	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.008	0.00626144215665	.	.	8.796e-05	0	0	0	0.0003	9.269e-05	0	0.0002	7.12e-05	11	154602	rs763866062	3.91e-05	3.899e-05	3.663e-05	4.161e-05	0.0003	3.075e-05	2.76e-05	0.0002	0.0001	0	0	0	0	0.0003	0	1.098e-05	0.0001	0.0003	1.972e-05	1.97e-05	1.285e-05	2.691e-05	.	5.24e-06	2.45e-06	.	.	0	0	0	0	0	0.0002	0	0	0.0005	0	0.179	0.22053	T	0.639	0.06992	T	0.187	0.29285	B	0.058	0.26451	B	0.039599	0.01866	N	2.080600	1	0.08975	N	0.895	0.22405	L	2.74	0.11730	T	-1.71	0.40660	N	0.052	0.02366	-1.0304	0.20325	T	0.020	0.08407	T	9	0.039524198	0.02449	T	0.006261	0.16435	T	0.008	0.00669	.	.	0.0666544352282	0.05500	0.05281223390057969	0.05223	0.00918750411922	0.00832	0.293908953667	0.09496	T	0.009517	0.08662	T	-0.5817	0.00188	T	-0.799048	0.01926	T	0.0354248397052288	0.02880	T	0.217178	0.02724	T	0.044400882	0.07090	0.03557156	0.02835	0.044400882	0.07090	0.03557156	0.02835	-3.766	0.20297	T	.	.	0.201	0.42549	B	.	.	0.413752	0.07843	4.542	0.64795127092172167	0.07592	0.08242	0.14196	N	AEFDGBCI	0.032000	0.03531	N	-1.11579226428155	0.06362	0.2926354	-1.20786186386973	0.05783	0.2765089	0.982907611093672	0.30474	0.634777	0.41761	0	0.606735	0.50208	0	0.643519	0.47002	0	0.645665	0.59343	0	.	.	4.86	-3.69	0.04162	-0.586000	0.05880	-1.166000	0.06138	-0.115000	0.14600	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.1168:0.3534:0.1193:0.4104	2.801	0.05081	958	0.09170	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	200.49	37	chr12	31985100	.	T	C	200.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.62;DP=313;ExcessHet=0;FS=1.361;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=4.46;ReadPosRankSum=-0.341;SOR=0.458	GT:AD:DP:GQ:PL	0/1:35,10:45:99:211,0,880	6	0	1	0
chr12	38320232	38320232	C	A	exonic	ALG10B	.	nonsynonymous SNV	ALG10B:NM_001013620:exon3:c.C441A:p.N147K	.	2	1519	1	0	0	1	0.000329056	.	.	.	3275245	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.079	0.0106219043285	.	0.000399361	9.916e-05	0	0	0	0	1.501e-05	0	0.0007	9.06e-05	14	154602	rs569115371	3.147e-05	3.147e-05	2.314e-05	3.988e-05	0.0005	2.412e-05	2.158e-05	0.0003	0.0003	0	0	0	0	0	0.0003	8.994e-07	4.968e-05	0.0005	2.628e-05	2.625e-05	0	5.377e-05	0.0008	8.14e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0	0	0	0	0	0.0008	0.014	0.53172	D	0.017	0.60337	D	0.546	0.38028	P	0.288	0.40614	B	0.000015	0.62929	D	0.144815	0.982141	0.81001	D	2.52	0.73523	M	0.58	0.54149	T	-1.83	0.42957	N	0.389	0.43029	-1.0590	0.12007	T	0.119	0.41648	T	10	0.058752894	0.06956	T	0.010622	0.27366	T	0.079	0.23065	0.573	0.69695	0.578975642517	0.57568	0.7230941872931745	0.72253	0.113391225874	0.12803	0.565869688988	0.48095	T	0.010445	0.09434	T	-0.346529	0.04948	T	-0.374747	0.36335	T	0.184414066036339	0.19509	T	0.877212	0.59013	D	0.6488147	0.75301	0.54324543	0.73600	0.6488147	0.75302	0.54324543	0.73600	-9.974	0.73756	D	.	.	0.848	0.79631	P	.	.	2.699676	0.35258	19.85	0.98777521485026343	0.46080	0.63759	0.32190	D	AEFGI	0.102336	0.20531	N	-0.192705421175238	0.33436	1.897013	-0.204105042575053	0.31388	1.775911	0.0532603786959214	0.14933	0.615465	0.37627	0	0.633656	0.55848	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	3.26	0.423	0.15679	0.470000	0.21795	-0.023000	0.12899	-0.299000	0.06208	0.997000	0.40164	0.759000	0.26609	0.993000	0.69303	0.0:0.5073:0.0:0.4927	5.929	0.18365	867	0.32089	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1004.44	33	chr12	38320232	.	C	A	1004.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.554;DP=262;ExcessHet=0;FS=1.866;MLEAC=1;MLEAF=0.071;MQ=53.69;MQRankSum=-0.085;QD=12.71;ReadPosRankSum=-0.084;SOR=0.456	GT:AD:DP:GQ:PL	0/1:36,43:79:99:1015,0,852	6	0	1	0
chr12	39764776	39764776	G	C	exonic	SLC2A13	.	nonsynonymous SNV	SLC2A13:NM_052885:exon8:c.C1528G:p.L510V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.252	0.0443433292116	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.747e-06	0.0002	4.1e-06	1.38e-06	3.612e-06	6.4e-07	4.3e-07	8.5e-07	5.7e-07	0	0	0	0	0	0	3.612e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.286	0.15201	T	0.462	0.12526	T	0.374	0.34192	B	0.326	0.41929	B	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	-0.89	0.74793	T	-0.46	0.14978	N	0.564	0.58798	-0.6019	0.64739	T	0.322	0.69134	T	10	0.51726407	0.62438	D	0.044343	0.61442	D	0.252	0.56159	0.421	0.46365	0.695003275107	0.69237	0.8554796860303294	0.85510	0.415926434887	0.42235	0.617287814617	0.55346	T	0.14097	0.47579	T	0.161933	0.70380	D	-0.00517021	0.70000	D	0.952465236186981	0.63797	D	0.912409	0.68863	D	0.25600496	0.48637	0.19588253	0.43288	0.25600496	0.48637	0.19588253	0.43287	-8.267	0.62875	D	.	.	0.147	0.32493	B	.	.	3.372480	0.46612	22.3	0.9975783521054008	0.84772	0.94008	0.59836	D	AEFCI	0.740830	0.68496	D	0.145500679544335	0.48600	3.070197	0.293165215121814	0.55141	3.677321	0.998323112009773	0.36758	0.653281	0.48532	0	0.573888	0.26702	0	0.675528	0.61593	0	0.620846	0.47308	0	.	.	5.39	5.39	0.77615	4.252000	0.58574	11.595000	0.93433	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	19.172	0.93569	507	0.75469	Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4167	398.42	26	chr12	39764776	.	G	C	398.42	.	AC=5;AF=0.417;AN=12;BaseQRankSum=0.419;DP=205;ExcessHet=6.1542;FS=279.101;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.33;ReadPosRankSum=0.832;SOR=8.439	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:7,4:11:60:0|1:39764776_G_C:60,0,170:39764776	1	0	5	1
chr12	39764778	39764778	G	A	exonic	SLC2A13	.	nonsynonymous SNV	SLC2A13:NM_052885:exon8:c.C1526T:p.A509V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.203	0.0177069271949	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.848e-07	6.841e-07	0	1.377e-06	9.001e-07	0	0	.	.	0	0	0	0	0	0	9.001e-07	0	0	6.581e-06	6.566e-06	0	1.347e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.309	0.14064	T	0.311	0.19660	T	0.014	0.16867	B	0.05	0.25278	B	0.000013	0.62929	D	0.113054	0.999713	0.48481	D	.	.	.	-1.01	0.76168	T	-0.31	0.12099	N	0.257	0.29081	-0.7453	0.58180	T	0.273	0.64443	T	10	0.21655372	0.38241	T	0.017707	0.39515	T	0.203	0.48915	0.697	0.83406	0.151262610727	0.14761	0.7928660009766968	0.79239	0.224749101013	0.25008	0.54022371769	0.44477	T	0.147497	0.48561	T	-0.0588532	0.43086	T	-0.322315	0.42320	T	0.95820426940918	0.65209	D	0.889111	0.62070	D	0.12108061	0.28480	0.15200104	0.35782	0.12108061	0.28480	0.15200104	0.35781	-8.403	0.63785	D	.	.	0.247	0.48135	B	.	.	3.158678	0.42787	21.6	0.72433600078509297	0.09972	0.85720	0.44884	D	AEFCI	0.561062	0.56921	D	-0.0694159268393656	0.38738	2.273609	0.136951197838408	0.46454	2.891159	0.361488548204108	0.19782	0.653281	0.48532	0	0.573888	0.26702	0	0.675528	0.61593	0	0.620846	0.47308	0	.	.	5.39	4.49	0.54177	5.774000	0.68561	9.659000	0.81190	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0721:0.0:0.9279:0.0	14.373	0.66419	507	0.75469	Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	159.69	18	chr12	39764778	.	G	A	159.69	.	AC=2;AF=0.2;AN=10;BaseQRankSum=-1.413;DP=173;ExcessHet=0.4139;FS=71.787;MLEAC=2;MLEAF=0.2;MQ=60;MQRankSum=0;QD=2.96;ReadPosRankSum=0.833;SOR=5.781	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:7,4:11:60:0|1:39764776_G_C:60,0,170:39764776	3	0	2	2
chr12	40483663	40483663	-	C	exonic	MUC19	.	unknown	UNKNOWN	.	549	954	19	0	0	19	0.00985989	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1228079559	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.926e-05	0.0014	2.577e-05	9.425e-05	0.0004	3.083e-05	2.214e-05	0.0002	0.0001	0	0	0.0004	0	0	9.423e-05	0	2.951e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	2292.4	633	chr12	40483663	.	G	GC	2292.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.76;DP=3940;ExcessHet=0;FS=0.706;MLEAC=1;MLEAF=0.071;MQ=57.79;MQRankSum=-19.51;QD=4.93;ReadPosRankSum=1.18;SOR=0.563	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:383,82:465:99:0|1:40483663_G_GC:2303,0,15403:40483663	6	0	1	0
chr12	40483664	40483664	-	GAAGTGACAGGGATAACTGGACTATCAGCTGTGCTGACAAGGACAACTGGGCCATCGGCTGTGGTGACAGAGACAACTGGACCAACTGGGGTGACAAGAATAACTGGACTATCAGCTGGAGTGACAGGGACAACTGGACTGTCGGCTGAAGTGACAGGGACAACTGGGCTATCAGC	exonic	MUC19	.	unknown	UNKNOWN	.	558	913	21	0	30	51	0.0113698	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.126e-05	0.0017	3.511e-05	0.0001	0.0006	4.215e-05	3.16e-05	0.0003	0.0002	0	0	0.0006	0	0	0.0001	0	3.909e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	2291.4	633	chr12	40483664	.	T	TGAAGTGACAGGGATAACTGGACTATCAGCTGTGCTGACAAGGACAACTGGGCCATCGGCTGTGGTGACAGAGACAACTGGACCAACTGGGGTGACAAGAATAACTGGACTATCAGCTGGAGTGACAGGGACAACTGGACTGTCGGCTGAAGTGACAGGGACAACTGGGCTATCAGC	2291.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.69;DP=3939;ExcessHet=0;FS=0.702;MLEAC=1;MLEAF=0.071;MQ=57.78;MQRankSum=-19.49;QD=4.94;ReadPosRankSum=-13.59;SOR=0.577	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:382,82:464:99:0|1:40483663_G_GC:2302,0,15463:40483663	6	0	1	0
chr12	40486643	40486643	C	0	exonic	MUC19	.	.	.	.	521	915	2	0	84	86	0.0010917	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	285.79	688	chr12	40486643	.	C	*	285.79	.	AC=2;AF=0.143;AN=14;BaseQRankSum=12.59;DP=6121;ExcessHet=1.1394;FS=40.612;MLEAC=2;MLEAF=0.143;MQ=57.98;MQRankSum=-24.29;QD=0.09;ReadPosRankSum=6.54;SOR=4.73	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:515,78:593:99:0|1:40486484_ACAACTGGACCATCAGCTGAAGAGACAGGGG_A:1725,0,21351:40486484	5	0	2	0
chr12	40486644	40486644	T	0	exonic	MUC19	.	.	.	.	536	897	5	0	84	89	0.00277932	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	282.31	691	chr12	40486644	.	T	*	282.31	.	AC=2;AF=0.25;AN=8;BaseQRankSum=8.37;DP=6134;ExcessHet=1.1394;FS=40.612;MLEAC=3;MLEAF=0.375;MQ=57.98;MQRankSum=-24.22;QD=0.09;ReadPosRankSum=4.39;SOR=4.728	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:515,78:593:99:0|1:40486484_ACAACTGGACCATCAGCTGAAGAGACAGGGG_A:1725,0,21351:40486484	2	0	2	3
chr12	40486662	40486662	G	0	exonic	MUC19	.	.	.	.	515	928	21	0	58	79	0.0111881	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	1106.35	670	chr12	40486662	.	G	*	1106.35	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.38;DP=5846;ExcessHet=0.3476;FS=43.541;MLEAC=1;MLEAF=0.083;MQ=57.43;MQRankSum=-26.18;QD=0.69;ReadPosRankSum=-2.692;SOR=5.389	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:515,78:593:99:0|1:40486484_ACAACTGGACCATCAGCTGAAGAGACAGGGG_A:1725,0,21351:40486484	5	0	1	1
chr12	40486663	40486663	A	0	exonic	MUC19	.	.	.	.	608	828	5	0	81	86	0.00301023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	1004.27	670	chr12	40486663	.	A	*	1004.27	.	AC=1;AF=0.167;AN=6;BaseQRankSum=5;DP=5841;ExcessHet=0.3476;FS=43.244;MLEAC=1;MLEAF=0.167;MQ=57.49;MQRankSum=-25.9;QD=0.63;ReadPosRankSum=-10.56;SOR=5.337	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:515,78:593:99:0|1:40486484_ACAACTGGACCATCAGCTGAAGAGACAGGGG_A:1725,0,21351:40486484	2	0	1	4
chr12	40487346	40487346	A	T	exonic	MUC19	.	unknown	UNKNOWN	.	540	947	31	0	4	35	0.0161039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1326292392	0	1.325e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0003	0.0031	0.0003	0.0003	0.0007	0.0002	0.0002	0.0002	0.0001	0.0001	0	0.0003	0.0004	0	0.0005	0	0.0003	0.0015	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	474.44	712	chr12	40487346	.	A	T	474.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.42;DP=5596;ExcessHet=0;FS=26.762;MLEAC=1;MLEAF=0.071;MQ=56.69;MQRankSum=-15.75;QD=1.05;ReadPosRankSum=4.61;SOR=3.669	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:409,42:451:99:0|1:40487326_C_A:485,0,17032:40487326	6	0	1	0
chr12	40487347	40487347	G	C	exonic	MUC19	.	unknown	UNKNOWN	.	538	950	30	0	4	34	0.015544	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1206361857	0	1.395e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0025	0.0002	0.0002	0.0005	0.0001	0.0001	0.0001	8.09e-05	0.0001	0	0.0002	0.0003	0	0.0003	0	0.0002	0.0011	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	462.44	712	chr12	40487347	.	G	C	462.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.965;DP=5600;ExcessHet=0;FS=26.601;MLEAC=1;MLEAF=0.071;MQ=56.72;MQRankSum=-15.82;QD=1.02;ReadPosRankSum=4.88;SOR=3.632	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:413,42:455:99:0|1:40487326_C_A:473,0,17206:40487326	6	0	1	0
chr12	40487354	40487354	G	A	exonic	MUC19	.	unknown	UNKNOWN	.	544	938	36	0	4	40	0.0188285	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1265246174	0	6.857e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0004	0.0041	0.0004	0.0004	0.0009	0.0003	0.0003	0.0002	0.0002	0.0003	0	0.0005	0.0005	0	0.0007	0	0.0004	0.0027	0.0009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	469.22	712	chr12	40487354	.	G	A	469.22	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.95;DP=5676;ExcessHet=0;FS=24.096;MLEAC=1;MLEAF=0.083;MQ=57.07;MQRankSum=-5.644;QD=1.04;ReadPosRankSum=6.12;SOR=3.15	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:411,42:453:99:0|1:40487326_C_A:479,0,17126:40487326	5	0	1	1
chr12	40487370	40487370	C	G	exonic	MUC19	.	unknown	UNKNOWN	.	530	937	55	0	0	55	0.0285122	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1434790702	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0028	0.0002	0.0002	0.0003	0.0001	0.0001	9.092e-05	6.022e-05	0.0001	0	0.0003	0.0003	0	0.0002	0	0.0001	0.0019	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	455.22	732	chr12	40487370	.	C	G	455.22	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.73;DP=5616;ExcessHet=0;FS=24.096;MLEAC=1;MLEAF=0.083;MQ=56.27;MQRankSum=-17.28;QD=0.99;ReadPosRankSum=6.99;SOR=3.151	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:416,42:458:99:0|1:40487326_C_A:465,0,17332:40487326	5	0	1	1
chr12	40487373	40487373	A	G	exonic	MUC19	.	unknown	UNKNOWN	.	536	929	57	0	0	57	0.029765	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1199349600	0	5.474e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0029	0.0002	0.0002	0.0003	0.0001	0.0001	0.0001	8.547e-05	0.0001	0	0.0003	0.0003	0.0002	0.0002	0	0.0002	0.0019	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	454.22	718	chr12	40487373	.	A	G	454.22	.	AC=1;AF=0.083;AN=12;BaseQRankSum=5.23;DP=5604;ExcessHet=0;FS=24.142;MLEAC=1;MLEAF=0.083;MQ=56.17;MQRankSum=-17.27;QD=0.99;ReadPosRankSum=6.82;SOR=3.184	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:416,42:458:99:0|1:40487326_C_A:464,0,17327:40487326	5	0	1	1
chr12	40487375	40487375	G	C	exonic	MUC19	.	unknown	UNKNOWN	.	533	933	56	0	0	56	0.0291363	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1362941780	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0029	0.0002	0.0002	0.0004	0.0001	0.0001	0.0001	7.934e-05	0.0001	0	0.0003	0.0003	0.0002	0.0002	0	0.0002	0.0019	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	476.22	719	chr12	40487375	.	G	C	476.22	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.115;DP=5599;ExcessHet=0;FS=24.096;MLEAC=1;MLEAF=0.083;MQ=56.17;MQRankSum=-17.56;QD=1.06;ReadPosRankSum=6.73;SOR=3.159	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:409,42:451:99:0|1:40487326_C_A:486,0,17033:40487326	5	0	1	1
chr12	40487377	40487377	C	G	exonic	MUC19	.	unknown	UNKNOWN	.	537	927	58	0	0	58	0.0303347	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1471742152	0	3.832e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0031	0.0002	0.0002	0.0005	0.0002	0.0001	0.0002	0.0001	0.0001	0	0.0004	0.0003	0.0002	0.0002	0	0.0002	0.0020	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	482.22	728	chr12	40487377	.	C	G	482.22	.	AC=1;AF=0.083;AN=12;BaseQRankSum=4.44;DP=5608;ExcessHet=0;FS=24.096;MLEAC=1;MLEAF=0.083;MQ=56.07;MQRankSum=-17.64;QD=1.07;ReadPosRankSum=6.61;SOR=3.159	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:407,42:449:99:0|1:40487326_C_A:492,0,16949:40487326	5	0	1	1
chr12	40487388	40487388	C	G	exonic	MUC19	.	unknown	UNKNOWN	.	532	936	54	0	0	54	0.0280374	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs552463164	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0030	0.0003	0.0002	0.0004	0.0002	0.0002	0.0002	0.0001	0.0001	0	0.0003	0.0003	0.0002	0.0002	0	0.0003	0.0014	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	507.23	741	chr12	40487388	.	C	G	507.23	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.89;DP=5615;ExcessHet=0;FS=26.842;MLEAC=1;MLEAF=0.083;MQ=56.03;MQRankSum=-18.55;QD=1.15;ReadPosRankSum=4.74;SOR=3.716	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:399,42:441:99:0|1:40487326_C_A:517,0,16612:40487326	5	0	1	1
chr12	40487403	40487403	G	T	exonic	MUC19	.	unknown	UNKNOWN	.	531	933	58	0	0	58	0.0301455	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1387815853	0	4.789e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0003	0.0030	0.0003	0.0003	0.0005	0.0002	0.0002	0.0003	0.0002	0.0001	0	0.0005	0.0003	0	0.0002	0	0.0003	0.0014	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	481.23	753	chr12	40487403	.	G	T	481.23	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-4.1;DP=5649;ExcessHet=0;FS=26.687;MLEAC=1;MLEAF=0.083;MQ=55.77;MQRankSum=-19.25;QD=1.07;ReadPosRankSum=1.34;SOR=3.65	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:409,42:451:99:0|1:40487326_C_A:491,0,17028:40487326	5	0	1	1
chr12	40487418	40487418	G	C	exonic	MUC19	.	unknown	UNKNOWN	.	527	933	62	0	0	62	0.0321577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796103026	0	1.916e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0005	0.0031	0.0005	0.0004	0.0009	0.0004	0.0004	0.0005	0.0004	0.0002	0	0.0009	0.0003	0	0.0004	0	0.0006	0.0020	0.0009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	439.23	771	chr12	40487418	.	G	C	439.23	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.014;DP=5805;ExcessHet=0;FS=24.142;MLEAC=1;MLEAF=0.083;MQ=55.63;MQRankSum=-19.58;QD=0.94;ReadPosRankSum=-2.335;SOR=3.68	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:424,42:466:99:0|1:40487326_C_A:449,0,17662:40487326	5	0	1	1
chr12	40487421	40487421	-	CCCATCAGCTGAAGTGACAGGGCTACCTGGAGTGTCAGCTGGGGTGACAGGGAC	exonic	MUC19	.	unknown	UNKNOWN	.	528	938	56	0	0	56	0.0289855	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0004	0.0030	0.0004	0.0004	0.0007	0.0003	0.0003	0.0004	0.0003	0.0002	0	0.0007	0.0006	0	0.0003	0	0.0005	0.0014	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	386.4	759	chr12	40487421	.	G	GCCCATCAGCTGAAGTGACAGGGCTACCTGGAGTGTCAGCTGGGGTGACAGGGAC	386.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.734;DP=5823;ExcessHet=0;FS=24.096;MLEAC=1;MLEAF=0.071;MQ=55.33;MQRankSum=-19.42;QD=0.82;ReadPosRankSum=-5.225;SOR=3.61	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:428,41:469:99:0|1:40487326_C_A:397,0,17835:40487326	6	0	1	0
chr12	40487424	40487424	-	CAGGTGTAGTGACAGGGACAACTGGCCC	exonic	MUC19	.	unknown	UNKNOWN	.	531	647	136	0	208	344	0.0951049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.211e-06	9.603e-06	2.25e-06	0	0.0010	0	0	.	.	0	0.0010	0	0	0	0	0	0	0	0.0003	0.0073	0.0003	0.0004	0.0005	0.0003	0.0002	0.0003	0.0002	0.0002	0	0.0005	0	0.0003	0.0005	0	0.0004	0	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	15468.5	661	chr12	40487424	.	T	TCAGGTGTAGTGACAGGGACAACTGGCCC	15468.5	.	AC=4;AF=0.333;AN=12;BaseQRankSum=0.817;DP=6041;ExcessHet=4.7409;FS=9.147;MLEAC=3;MLEAF=0.25;MQ=55.93;MQRankSum=-7.108;QD=5.66;ReadPosRankSum=7.39;SOR=3.526	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:419,0:419:99:.:.:1263,0,17311:.	2	0	4	1
chr12	40488212	40488217	GGGGTG	-	exonic	MUC19	.	unknown	UNKNOWN	.	573	874	75	0	0	75	0.041141	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1328022944	0	4.385e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0005	0.0045	0.0004	0.0005	0.0005	0.0004	0.0003	0.0003	0.0003	0.0005	0	0.0005	0.0013	0	0.0004	0	0.0004	0.0010	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	3487.68	340	chr12	40488211	.	TGGGGTG	T	3487.68	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-2.455;DP=4138;ExcessHet=1.1394;FS=5.453;MLEAC=3;MLEAF=0.214;MQ=57.73;MQRankSum=-15.92;QD=1.88;ReadPosRankSum=-4.326;SOR=1.408	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:338,57:395:99:0|1:40488211_TGGGGTG_T:885,0,13756:40488211	4	0	3	0
chr12	40488219	40488242	CAGAGACAACTGGACAATCAGCTG	-	exonic	MUC19	.	unknown	UNKNOWN	.	562	903	55	1	1	58	0.0305958	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1486154631	0	3.663e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0004	0.0040	0.0004	0.0005	0.0005	0.0003	0.0003	0.0003	0.0003	0.0005	0	0.0004	0.0013	0	0.0005	0	0.0004	0.0010	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	3069.68	377	chr12	40488218	.	ACAGAGACAACTGGACAATCAGCTG	A	3069.68	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-2.03;DP=4157;ExcessHet=1.1394;FS=5.724;MLEAC=3;MLEAF=0.214;MQ=58.01;MQRankSum=-15.99;QD=1.54;ReadPosRankSum=-4.294;SOR=1.397	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:357,57:414:99:0|1:40488211_TGGGGTG_T:827,0,14518:40488211	4	0	3	0
chr12	40512188	40512188	G	A	exonic	MUC19	.	unknown	UNKNOWN	.	514	986	22	0	0	22	0.0110331	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00219649	.	.	.	.	.	.	.	.	0.0008837	23	26028	rs192318184	0.0003	0.0002	0.0003	0.0004	0.0117	0.0003	0.0003	0.0104	0.0099	0.0001	0.0020	0	0	0	0.0056	5.644e-05	0.0014	0.0117	0.0006	0.0006	0.0002	0.0009	0.0114	0.0005	0.0004	0.0090	0.0081	0	0	0.0005	0.0003	0	9.418e-05	0	0.0002	0.0019	0.0114	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	383.44	73	chr12	40512188	.	G	A	383.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.488;DP=643;ExcessHet=0;FS=1.093;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=6.61;ReadPosRankSum=0.446;SOR=0.93	GT:AD:DP:GQ:PL	0/1:40,18:58:99:394,0,1010	6	0	1	0
chr12	40534711	40534711	G	A	exonic	MUC19	.	unknown	UNKNOWN	.	444	1047	30	1	0	32	0.0150517	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00139776	0.0076	0	0.0050	0	0	0.0041	0.0069	0.0170	0.0008797	136	154602	rs200624352	0.0014	0.0015	0.0013	0.0015	0.0183	0.0013	0.0013	0.0153	0.0141	0.0002	0.0015	0.0038	0	9.606e-05	0.0183	0.0011	0.0024	0.0069	0.0012	0.0012	0.0011	0.0013	0.0056	0.0011	0.0010	0.0039	0.0034	0.0003	0	0.0018	0.0058	0.0002	0	0.0181	0.0012	0.0040	0.0056	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	124.83	34	chr12	40534711	.	G	A	124.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.11;DP=193;ExcessHet=0;FS=2.533;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.4;ReadPosRankSum=1.19;SOR=0.707	GT:AD:DP:GQ:PL	0/1:7,5:12:99:135,0,154	6	0	1	0
chr12	47791893	47791893	C	T	exonic	HDAC7	.	nonsynonymous SNV	HDAC7:NM_001098416:exon13:c.G1679A:p.R560Q,HDAC7:NM_001308090:exon13:c.G1739A:p.R580Q,HDAC7:NM_001368046:exon14:c.G1832A:p.R611Q,HDAC7:NM_015401:exon14:c.G1790A:p.R597Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.0197470309949	.	0.000798722	0.0001	0.0001	0	0.0002	0	3.521e-05	0.0040	0.0005	0.0001294	20	154602	rs202023873	6.784e-05	6.909e-05	4.636e-05	8.954e-05	0.0005	5.68e-05	5.27e-05	0.0004	0.0003	2.993e-05	0	0	0.0001	0	0	3.959e-05	0.0001	0.0005	5.922e-05	5.906e-05	5.149e-05	6.731e-05	0.0015	3.081e-05	2.213e-05	0.0007	0.0005	0	0	0	0	0	0	0	2.945e-05	0	0.0015	0.022	0.49117	D	0.033	0.54934	D	0.3	0.70673	B	0.056	0.44962	B	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	0.675	0.16386	N	-0.39	0.69158	T	-1.41	0.34795	N	0.406	0.46086	-0.7424	0.58329	T	0.186	0.53601	T	10	0.06422126	0.08484	T	0.019747	0.42191	T	0.186	0.46104	.	.	0.596574268087	0.59337	0.5437174709230804	0.54297	0.305303193982	0.32830	0.642971277237	0.58988	T	0.225023	0.58963	T	-0.15505	0.27526	T	-0.136552	0.60415	T	0.0604657904603939	0.07241	T	0.862314	0.55722	D	0.5056985	0.67428	0.25135827	0.50745	0.5056985	0.67429	0.25135827	0.50745	-7.386	0.57968	T	.	.	0.220	0.45049	B	.;.;.;.;.	.;.;.;.;.	3.997356	0.58871	24.0	0.99937789378341801	0.99698	0.91155	0.52968	D	AEFBCI	0.728724	0.67666	D	0.143286397757777	0.48494	3.061037	0.279190995011872	0.54327	3.597917	0.999999999939179	0.74766	0.67177	0.52595	0	0.643519	0.57511	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	5.18	5.18	0.71140	2.160000	0.41975	4.070000	0.41657	-0.182000	0.10109	0.994000	0.38300	0.999000	0.35428	0.709000	0.34421	0.0:1.0:0.0:0.0	17.686	0.88163	888	0.27761	.;.;.;Histone deacetylase domain;Histone deacetylase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	349.27	33	chr12	47791893	.	C	T	349.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.226;DP=209;ExcessHet=0;FS=5.391;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.27;ReadPosRankSum=-1.386;SOR=0.894	GT:AD:DP:GQ:PL	0/1:16,15:31:99:359,0,367	5	0	1	1
chr12	49973244	49973244	G	T	exonic	AQP6	.	nonsynonymous SNV	AQP6:NM_001652:exon1:c.G71T:p.S24I	.	417	1104	1	0	0	1	0.000452694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.190	.	0.0018	0.00299521	0.0009	0.0060	0	0	0	0	0	0.0028	0.000815	126	154602	rs35872290	0.0003	0.0003	0.0003	0.0004	0.0061	0.0003	0.0003	0.0054	0.0051	0.0061	0.0002	0	0	0	0.0002	2.698e-06	0.0006	0.0024	0.0019	0.0019	0.0020	0.0017	0.0061	0.0017	0.0016	0.0055	0.0053	0.0061	0	0.0008	0	0	0	0	1.47e-05	0.0009	0.0023	0.298	0.14595	T	0.414	0.18846	T	0.003	0.11197	B	0.005	0.11217	B	0.097486	0.20025	N	0.458260	0.858819	0.81001	D	0.29	0.10111	N	-3.04	0.92357	D	-1.24	0.31375	N	0.12	0.22614	-0.2357	0.76738	T	0.465	0.79345	T	10	0.007188618	0.00163	T	.	.	.	0.190	0.46781	.	.	0.778145068835	0.77610	0.2951957708161649	0.29432	0.279315344121	0.30423	0.408649206161	0.26270	T	0.248023	0.61776	T	-0.364561	0.03879	T	-0.294663	0.45286	T	0.00117007059324133	0.00011	T	0.542346	0.18695	T	0.1130343	0.26700	0.08278268	0.18919	0.1130343	0.26699	0.08278268	0.18919	-3.757	0.20164	T	.	.	0.181	0.39391	B	.;.;.	.;.;.	1.583432	0.20260	14.66	0.78884306770918788	0.12495	0.36279	0.25497	N	AEFDGBIJ	0.171608	0.29859	N	-0.943426713245492	0.09841	0.4675462	-0.90774066283406	0.11911	0.6097089	0.999965646318225	0.48965	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.21	3.3	0.36912	1.018000	0.29604	3.251000	0.37027	-0.194000	0.09177	0.003000	0.16062	1.000000	0.68203	0.633000	0.32236	0.0862:0.0:0.5406:0.3732	6.471	0.21209	258	0.89879	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.07143	964.63	35	chr12	49973244	.	G	T	964.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.325;DP=248;ExcessHet=0;FS=0.891;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.59;ReadPosRankSum=-1.33;SOR=0.829	GT:AD:DP:GQ:PL	0/1:32,39:71:99:975,0,707	6	0	1	0
chr12	50363218	50363218	C	T	exonic	FAM186A	.	nonsynonymous SNV	FAM186A:NM_001145475:exon2:c.G339A:p.M113I	.	443	1077	2	0	0	2	0.000927644	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.00603590308905	.	0.000798722	0.0007	0	0	0	0	0	0	0.0018	0.0001164	18	154602	rs570233651	9.291e-05	8.961e-05	6.628e-05	0.0001	0.0015	7.963e-05	7.487e-05	0.0013	0.0012	0	2.801e-05	0	0	0	0	1.854e-06	0.0002	0.0015	5.911e-05	5.906e-05	5.14e-05	6.717e-05	0.0019	3.076e-05	2.209e-05	0.0010	0.0007	0	0	0	0	0	0	0	0	0	0.0019	1.0	0.00964	T	1.0	0.01155	T	0.003	0.11197	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	-0.57	0.02306	N	3.66	0.04228	T	0.71	0.02130	N	0.096	0.10911	-0.9206	0.45472	T	0.005	0.01651	T	9	0.005950004	0.00133	T	0.006036	0.15757	T	0.010	0.01040	0.309	0.28128	0.0138822411134	0.00435	0.010277295477898	0.00988	.	.	0.477039456367	0.35650	T	0.001082	0.00603	T	-0.712171	0.00031	T	-0.808991	0.01688	T	0.0248162288828283	0.01248	T	0.441756	0.12241	T	0.03740679	0.04789	0.049547475	0.07593	0.03740679	0.04789	0.049547475	0.07592	-2.638	0.06797	T	.	.	0.319	0.56984	B	.;.	.;.	-0.886289	0.00949	0.037	0.63502664646914864	0.07241	0.00323	0.01694	N	AEFDIJ	0.020581	0.00827	N	-1.38899944010862	0.02740	0.1214444	-1.3849276718096	0.03412	0.1590949	7.90868467097141E-5	0.04552	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	4.12	-1.21	0.09033	-1.009000	0.03770	-1.453000	0.05405	-0.176000	0.10722	0.000000	0.06391	0.000000	0.08366	0.016000	0.10718	0.3432:0.4052:0.0:0.2515	3.602	0.07573	592	0.68746	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	275.83	34	chr12	50363218	.	C	T	275.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.896;DP=204;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.9;ReadPosRankSum=-0.716;SOR=0.628	GT:AD:DP:GQ:PL	0/1:17,14:31:99:286,0,409	6	0	1	0
chr12	52385056	52385056	G	C	exonic	KRT84	.	nonsynonymous SNV	KRT84:NM_033045:exon1:c.C530G:p.A177G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.891	0.176906474143	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.789e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.000138	0.49741	D	0.000000	0.999991	0.58761	D	4.095	0.97289	H	-3.65	0.95179	D	-3.64	0.69835	D	0.853	0.84922	1.078	0.98810	D	0.938	0.97975	D	10	0.9246705	0.91817	D	0.176906	0.85252	D	0.891	0.96873	0.771	0.89767	0.975966307224	0.97570	0.5387444611866561	0.53799	0.219873754163	0.24531	0.673947811127	0.63400	T	0.575528	0.86016	D	0.322749	0.84668	D	0.22583	0.84466	D	0.999502182006836	0.97675	D	0.952205	0.81731	D	0.8957342	0.91004	0.85471135	0.91821	0.8957342	0.91006	0.85471135	0.91822	-10.131	0.74692	D	.	.	0.640	0.70527	P	.	.	5.271504	0.88515	29.6	0.99726064184576435	0.82406	0.98882	0.88116	D	AEFGBI	0.935306	0.92997	D	0.970799222495421	0.94775	13.02873	0.876790821287214	0.94479	12.79379	0.999999999999533	0.74766	0.554377	0.28877	0	0.563428	0.19063	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.03	5.03	0.67015	8.140000	0.89528	.	.	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	18.936	0.92560	633	0.64743	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	142.62	29	chr12	52385056	.	G	C	142.62	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-3.676;DP=453;ExcessHet=1.1394;FS=420.593;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=0.57;ReadPosRankSum=1.57;SOR=8.439	GT:AD:DP:GQ:PL	0/1:39,19:58:70:70,0,809	3	0	3	1
chr12	53059230	53059230	G	A	exonic	TNS2	.	nonsynonymous SNV	TNS2:NM_015319:exon18:c.G1619A:p.R540Q,TNS2:NM_170754:exon18:c.G1589A:p.R530Q,TNS2:NM_198316:exon18:c.G1217A:p.R406Q	.	427	1061	33	1	0	35	0.0162262	.	.	.	2100270	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.320	0.772024504778	0.0043	0.00199681	0.0052	0.0010	0.0027	0	0.0017	0.0070	0.0034	0.0067	0.0001153	3	26028	rs186505042	0.0045	0.0045	0.0044	0.0046	0.0142	0.0044	0.0044	0.0116	0.0107	0.0017	0.0025	0.0250	5.123e-05	0.0011	0.0142	0.0043	0.0064	0.0054	0.0039	0.0039	0.0043	0.0035	0.0050	0.0036	0.0035	0.0045	0.0044	0.0008	0.0044	0.0049	0.0257	0.0004	0.0007	0.0238	0.0050	0.0077	0.0043	0.05	0.40068	D	0.444	0.15157	T	0.414	0.35185	B	0.05	0.25278	B	0.009088	0.30522	N	0.290697	0.563685	0.32234	D	.	.	.	-3.36	0.94067	D	-0.74	0.20791	N	0.251	0.32812	-0.4187	0.71434	T	0.387	0.74187	T	10	0.01160565	0.00253	T	0.772025	0.98198	D	0.320	0.64215	.	.	0.136095386433	0.13204	0.310462656355981	0.30959	0.897905251988	0.70530	0.669389784336	0.62751	T	0.166645	0.51296	T	-0.233784	0.16152	T	-0.106949	0.62854	T	0.0177116158695106	0.00502	T	0.927407	0.73262	D	0.12236214	0.28756	0.088153794	0.20536	0.12236214	0.28756	0.088153794	0.20536	-4.152	0.31627	T	.	.	0.140	0.32299	B	.;.;.;.;.;.	.;.;.;.;.;.	4.123727	0.61658	24.4	0.99869567671012383	0.94726	0.26646	0.23052	N	AEFDBCIJ	0.230530	0.35389	N	-0.435702239582266	0.24227	1.306702	-0.29249201110978	0.28344	1.579759	0.999889827802085	0.44867	0.460665	0.09802	0	0.514364	0.08380	0	0.576033	0.28219	0	0.636168	0.56350	0	.	.	4.63	4.63	0.57175	0.972000	0.29007	9.666000	0.81207	0.588000	0.31329	0.003000	0.16062	1.000000	0.68203	0.815000	0.38403	0.1017:0.0:0.8983:0.0	9.088	0.35757	761	0.50382	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.021761	0.026316	0.020436	0.032164	0.000000	0.025862	0.012270	0.018939	0.08333	156.27	24	chr12	53059230	.	G	A	156.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.734;DP=189;ExcessHet=0;FS=1.808;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.44;ReadPosRankSum=-0.254;SOR=1.104	GT:AD:DP:GQ:PL	0/1:13,8:21:99:166,0,257	5	0	1	1
chr12	56324597	56324597	C	T	exonic	PAN2	.	nonsynonymous SNV	PAN2:NM_001127460:exon11:c.G1712A:p.R571H,PAN2:NM_001166279:exon11:c.G1712A:p.R571H,PAN2:NM_014871:exon11:c.G1712A:p.R571H	.	432	1086	4	0	0	4	0.00183824	.	.	.	725202	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.220	0.00768161018155	0.0038	0.00239617	0.0037	0.0003	0.0005	0	0.0086	0.0050	0.0022	0.0031	0.0038809	600	154602	rs117027379	0.0044	0.0044	0.0043	0.0044	0.0050	0.0043	0.0043	0.0049	0.0049	0.0006	0.0007	3.83e-05	2.519e-05	0.0078	0.0002	0.0050	0.0024	0.0025	0.0034	0.0034	0.0034	0.0034	0.0052	0.0031	0.0030	0.0048	0.0046	0.0007	0	0.0011	0.0003	0	0.0092	0	0.0052	0.0014	0.0021	0.015	0.52492	D	0.078	0.42261	T	0.999	0.77913	D	0.938	0.67350	D	0.000000	0.84330	D	0.000000	0.999947	0.51968	D	2.015	0.55033	M	3.39	0.05710	T	-2.04	0.46842	N	0.613	0.67391	-1.2036	0.00124	T	0.036	0.15596	T	10	0.010620743	0.00236	T	0.007682	0.20378	T	0.220	0.51569	.	.	0.560327509995	0.55694	0.4790461592130438	0.47824	1.56828028248	0.88144	0.808421850204	0.83251	D	0.064588	0.32472	T	-0.25882	0.13037	T	-0.139427	0.60167	T	0.0322358655878006	0.02344	T	0.988501	0.96026	D	0.2565351	0.48694	0.1619504	0.37644	0.2565351	0.48693	0.1619504	0.37643	-9.807	0.73292	D	.	.	0.179	0.38941	B	.;.;.;.;.	.;.;.;.;.	5.179422	0.86839	29.0	0.99925063710930839	0.99042	0.97815	0.77336	D	AEFDBI	0.741762	0.68559	D	0.666813097316137	0.77460	6.679042	0.672364605266504	0.80287	7.265266	0.999999883388523	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	5.3	5.3	0.74745	6.100000	0.71123	7.694000	0.65937	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	18.125	0.89514	290	0.88477	PAN2 domain|Ubiquitin specific protease domain;PAN2 domain|Ubiquitin specific protease domain;.;.;PAN2 domain|Ubiquitin specific protease domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001511	0.010101	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.07143	765.49	35	chr12	56324597	.	C	T	765.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.69;DP=253;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.26;ReadPosRankSum=3.14;SOR=0.693	GT:AD:DP:GQ:PL	0/1:34,34:68:99:776,0,669	6	0	1	0
chr12	56643425	56643425	T	C	exonic	ATP5F1B	.	nonsynonymous SNV	ATP5F1B:NM_001686:exon5:c.A770G:p.N257S	.	431	1089	2	0	0	2	0.000917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.226	0.0106379533166	0.0034	0.000599042	0.0028	0.0007	0.0003	0	0.0003	0.0043	0.0022	0.0020	0.0028978	448	154602	rs142007312	0.0037	0.0037	0.0038	0.0037	0.0046	0.0036	0.0036	0.0045	0.0044	0.0006	0.0007	3.826e-05	2.519e-05	0.0004	0.0005	0.0046	0.0020	0.0021	0.0024	0.0024	0.0027	0.0021	0.0046	0.0022	0.0021	0.0041	0.0040	0.0008	0	0.0010	0.0003	0.0002	0.0003	0	0.0046	0.0005	0.0008	0.691	0.07473	T	0.236	0.27591	T	0.003	0.11197	B	0.002	0.06944	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.115	0.28702	L	-1.45	0.81318	T	-0.59	0.18670	N	0.612	0.62866	-0.7026	0.60314	T	0.279	0.65129	T	10	0.010383248	0.00231	T	0.010638	0.27409	T	0.226	0.52472	.	.	0.607851434931	0.60470	0.8806657926099286	0.88034	0.980352541565	0.73717	0.702140927315	0.67454	T	0.244257	0.61333	T	-0.334326	0.05790	T	-0.246473	0.50166	T	0.0617092464295251	0.07436	T	0.987201	0.95706	D	0.14583439	0.33411	0.09691122	0.23047	0.14583439	0.33410	0.09691122	0.23047	-6.769	0.52328	T	.	.	0.053	0.03849	B	.;.;.;.	.;.;.;.	2.965588	0.39511	21.0	0.92475427104090302	0.21905	0.97193	0.73238	D	AEFDBCI	0.956905	0.97576	D	-0.0554402858938165	0.39360	2.319822	0.196613346740044	0.49661	3.166643	0.999999999999931	0.74766	0.722319	0.85440	0	0.672317	0.65289	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.89	5.89	0.94758	7.884000	0.85773	7.913000	0.74126	0.645000	0.52629	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	15.291	0.73567	70	0.97015	ATPase, F1/V1/A1 complex, alpha/beta subunit, nucleotide-binding domain|AAA+ ATPase domain;AAA+ ATPase domain;.;ATPase, F1/V1/A1 complex, alpha/beta subunit, nucleotide-binding domain|AAA+ ATPase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.07143	451.83	35	chr12	56643425	.	T	C	451.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.04;DP=224;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.61;ReadPosRankSum=0.311;SOR=0.859	GT:AD:DP:GQ:PL	0/1:26,21:47:99:462,0,557	6	0	1	0
chr12	57449472	57449472	T	A	exonic	INHBC	.	nonsynonymous SNV	INHBC:NM_005538:exon2:c.T509A:p.L170Q	.	434	1075	13	0	0	13	0.00601017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.462	.	.	0.00559105	0.0030	0	0.0003	0	0	0	0.0011	0.0216	0.0025614	396	154602	rs532165478	0.0013	0.0013	0.0007	0.0020	0.0208	0.0013	0.0012	0.0200	0.0196	2.987e-05	0	0	0	0	0.0019	2.518e-05	0.0011	0.0208	0.0006	0.0006	0.0002	0.0010	0.0184	0.0005	0.0005	0.0153	0.0142	0	0	0	0	0	0	0	4.41e-05	0.0005	0.0184	0.016	0.51853	D	0.016	0.60972	D	0.991	0.64070	D	0.93	0.66466	D	0.126709	0.18795	N	0.523314	0.937312	0.26894	N	2.825	0.82220	M	-0.41	0.69413	T	-2.39	0.52612	N	0.655	0.66529	-0.5918	0.65148	T	0.375	0.73302	T	10	0.008748561	0.00198	T	.	.	.	0.462	0.75889	0.639	0.77579	0.935568539399	0.93490	0.83262381750537	0.83221	0.713869902088	0.61850	0.409085690975	0.26330	T	0.325133	0.69588	T	0.0404207	0.57102	T	-0.164229	0.57969	T	0.135682094969156	0.15898	T	0.687731	0.29668	T	0.30693832	0.53519	0.27898112	0.53863	0.30693832	0.53519	0.27898112	0.53862	-5.605	0.42838	T	.	.	0.098	0.16319	B	.	.	4.404166	0.68072	25.2	0.99276898852779616	0.57765	0.98938	0.88891	D	AEFBI	0.885035	0.81521	D	0.431369803448664	0.63154	4.543854	0.327136371227882	0.57140	3.878793	0.999859164659275	0.44174	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	4.27	4.27	0.50009	5.554000	0.66999	7.896000	0.73301	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.832000	0.39227	0.0:0.0:0.1717:0.8283	9.851	0.40228	265	0.89590	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.000000	0.005848	0.000000	0.008621	0.000000	0.000000	0.07143	843.45	37	chr12	57449472	.	T	A	843.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.15;DP=251;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.3;ReadPosRankSum=-0.129;SOR=0.743	GT:AD:DP:GQ:PL	0/1:28,31:59:99:854,0,706	6	0	1	0
chr12	57615949	57615949	C	T	exonic	ARHGEF25	.	nonsynonymous SNV	ARHGEF25:NM_001347933:exon12:c.C1262T:p.P421L,ARHGEF25:NM_182947:exon13:c.C1352T:p.P451L,ARHGEF25:NM_001111270:exon14:c.C1469T:p.P490L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	0.00947672918644	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.39334	T	0.182	0.31629	T	0.002	0.09854	B	0.002	0.06944	B	0.254916	0.15432	N	0.494365	0.999768	0.53665	D	0.98	0.24916	L	1.64	0.27822	T	-4.59	0.78891	D	0.633	0.66101	-1.1012	0.03949	T	0.051	0.21767	T	10	0.39634714	0.55254	T	0.009477	0.24832	T	0.070	0.20419	0.377	0.39156	0.254761474806	0.25079	0.5159243835802668	0.51515	0.394637730174	0.40617	0.40506964922	0.25774	T	0.083203	0.37001	T	-0.206328	0.19900	T	-0.534153	0.18873	T	0.80665922164917	0.46812	D	0.873813	0.58316	D	0.13226965	0.30805	0.14582121	0.34569	0.13226965	0.30805	0.14582121	0.34568	-5.992	0.46737	T	.	.	0.111	0.22897	B	.;.;.	.;.;.	3.601765	0.50874	23.0	0.96721910534215183	0.30851	0.98609	0.84658	D	AEFGBI	0.728380	0.67642	D	-0.0257252945969311	0.40693	2.421008	0.102773820466365	0.44690	2.745901	0.99988673555854	0.44867	0.536767	0.22168	0	0.693144	0.66847	0	0.383324	0.06259	0	0.579976	0.35079	0	.	.	4.87	3.98	0.45383	5.947000	0.69957	2.759000	0.34591	0.599000	0.40250	0.998000	0.41325	0.125000	0.22942	0.977000	0.56843	0.1805:0.7273:0.0:0.0922	6.372	0.20690	287	0.88635	.;Pleckstrin homology domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	940.45	41	chr12	57615949	.	C	T	940.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.67;DP=259;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=16.5;ReadPosRankSum=0.877;SOR=0.749	GT:AD:DP:GQ:PL	0/1:22,35:57:99:951,0,501	6	0	1	0
chr12	63597828	63597828	A	C	exonic	DPY19L2	.	nonsynonymous SNV	DPY19L2:NM_173812:exon14:c.T1442G:p.F481C	Spermatogenic failure 9, Autosomal recessive	58	1463	1	0	0	1	0.000341647	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.569	0.023226530346	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.575e-06	6.566e-06	0	1.346e-05	6.551e-05	0	0	.	.	0	0	6.551e-05	0	0	0	0	0	0	0	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.995	0.83170	D	0.000000	0.84330	U	0.000000	0.99888	0.45620	D	.	.	.	-0.28	0.67543	T	-6.92	0.93366	D	0.824	0.81957	-0.3679	0.73025	T	0.419	0.76476	T	9	0.92114335	0.91468	D	0.023227	0.46179	T	0.569	0.82460	0.792	0.91365	0.727300299738	0.72488	0.8944864441104081	0.89419	0.864377250249	0.69141	0.661555528641	0.61633	T	0.20094	0.55867	T	0.198493	0.73751	D	0.0473456	0.73408	D	0.983805119991302	0.75337	D	0.968503	0.88585	D	0.826373	0.85652	0.6319416	0.78525	0.826373	0.85654	0.6319416	0.78526	-14.304	0.94003	D	0.8955563399641344	0.94879	0.798	0.77181	P	.	.	3.984187	0.58592	24.0	0.9887113882432913	0.47649	0.74126	0.36258	D	AEFI	0.439027	0.49817	N	0.378871690780356	0.60279	4.215083	0.247386805893594	0.52501	3.424533	2.15171907148095E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	3.15	1.97	0.25278	4.188000	0.58149	6.112000	0.53677	0.375000	0.20354	1.000000	0.71638	1.000000	0.68203	0.833000	0.39279	0.8524:0.0:0.1476:0.0	4.992	0.13564	849	0.35778	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	175.49	33	chr12	63597828	.	A	C	175.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.338;DP=187;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.75;ReadPosRankSum=2.15;SOR=0.693	GT:AD:DP:GQ:PL	0/1:9,9:18:99:186,0,184	6	0	1	0
chr12	66331389	66331389	G	A	exonic	HELB	.	nonsynonymous SNV	HELB:NM_001370285:exon12:c.G2906A:p.R969Q,HELB:NM_033647:exon12:c.G2906A:p.R969Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.00519748010343	.	.	.	.	.	.	.	.	.	.	.	.	.	rs747474183	3.42e-06	3.42e-06	0	6.875e-06	2.519e-05	1e-06	7.3e-07	7.2e-07	2e-07	0	0	0	2.519e-05	0	0	2.698e-06	1.656e-05	0	1.314e-05	1.313e-05	1.285e-05	1.345e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0.0002	0	0	1.47e-05	0	0	0.402	0.10412	T	0.579	0.08535	T	0.001	0.07471	B	0.0	0.01387	B	0.028337	0.01683	N	2.374580	1	0.08975	N	-0.69	0.01958	N	2.78	0.11298	T	-0.25	0.11008	N	0.052	0.02366	-0.9821	0.34515	T	0.011	0.04181	T	9	0.044000268	0.03309	T	0.005197	0.13248	T	0.003	0.00094	0.222	0.14518	0.107399877778	0.10242	0.22441360387613857	0.22356	0.184250353618	0.20723	0.220295995474	0.01327	T	0.001126	0.00635	T	-0.426184	0.01564	T	-0.84996	0.00960	T	0.0388850131691589	0.03489	T	.	.	.	0.018491862	0.00370	0.02375351	0.00388	0.018491862	0.00370	0.02375351	0.00388	-3.077	0.11033	T	.	.	0.068	0.02861	B	.	.	0.507937	0.08767	5.545	0.79836178675359215	0.12923	0.03069	0.07979	N	AEFBI	0.066583	0.13047	N	-2.04109526599739	0.00172	0.007385383	-1.98058360958928	0.00336	0.01485753	0.183336464876966	0.17901	0.615465	0.37627	0	0.577304	0.33150	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.24	-2.14	0.06725	-0.796000	0.04680	-0.308000	0.10061	-4.667000	0.00023	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2258:0.2487:0.4542:0.0713	5.667	0.16975	660	0.61921	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1455.46	33	chr12	66331389	.	G	A	1455.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.366;DP=373;ExcessHet=0;FS=5.631;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=18.19;ReadPosRankSum=1.26;SOR=1.011	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:41,39:80:99:0|1:66331380_C_T:1466,0,1604:66331380	6	0	1	0
chr12	75050500	75050500	T	G	exonic	KCNC2	.	nonsynonymous SNV	KCNC2:NM_001260497:exon3:c.A1505C:p.Q502P,KCNC2:NM_001260498:exon3:c.A1505C:p.Q502P,KCNC2:NM_001260499:exon3:c.A1505C:p.Q502P,KCNC2:NM_139136:exon3:c.A1505C:p.Q502P,KCNC2:NM_139137:exon3:c.A1505C:p.Q502P,KCNC2:NM_153748:exon3:c.A1505C:p.Q502P	.	426	1090	6	0	0	6	0.00274474	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.636	0.13166270549	7.7e-05	0.000599042	0.0006	0	0.0003	0	0.0002	0.0003	0.0011	0.0027	0.0005239	81	154602	rs201880430	0.0003	0.0003	0.0002	0.0003	0.0025	0.0003	0.0003	0.0023	0.0022	0	0.0002	0.0003	5.039e-05	7.489e-05	0.0005	0.0001	0.0005	0.0025	0.0002	0.0002	0.0001	0.0002	0.0017	0.0001	9.245e-05	0.0008	0.0006	4.817e-05	0	0.0002	0.0009	0	0	0	0.0001	0	0.0017	0.042	0.43708	D	0.075	0.43721	T	0.022	0.65571	B	0.045	0.56777	B	0.047381	0.23351	N	0.412335	0.999969	0.52935	D	1.755	0.45626	L	-4.4	0.97444	D	-2.52	0.55501	D	0.545	0.62442	0.794	0.94334	D	0.881	0.96052	D	10	0.017092079	0.00363	T	0.131663	0.81393	D	0.636	0.86078	.	.	0.827528949762	0.82590	0.724287530055627	0.72372	1.88409368239	0.92644	0.578383088112	0.49858	T	0.291554	0.66430	T	-0.0188492	0.49018	T	0.196157	0.82918	D	0.0687034698322956	0.08468	T	0.911409	0.69449	D	0.43796042	0.63270	0.4250014	0.66322	0.43796042	0.63271	0.4250014	0.66323	-8.087	0.63418	D	.	.	0.067	0.03093	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.167574	0.42947	21.6	0.98214299226666169	0.39237	0.96429	0.69096	D	AEFDI	0.911166	0.87006	D	0.0386268475719433	0.43620	2.651	0.187733779273569	0.49175	3.123806	0.625636935611295	0.21923	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	6.06	4.9	0.63643	5.146000	0.64688	6.520000	0.55830	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.13:0.0:0.0:0.87	12.357	0.54507	928	0.17405	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.005435	0.000000	0.000000	0.000000	0.000000	0.003788	0.07143	623.46	33	chr12	75050500	.	T	G	623.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.563;DP=233;ExcessHet=0;FS=1.152;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.55;ReadPosRankSum=-0.417;SOR=0.919	GT:AD:DP:GQ:PL	0/1:18,28:46:99:634,0,435	6	0	1	0
chr12	103985729	103985729	-	AGAGCGTGGAGTTAAGAGGAGAATCAGCTTTCAGTGGCATTCC	splicing	TDG	NM_001363612:exon8:c.661+1->AGAGCGTGGAGTTAAGAGGAGAATCAGCTTTCAGTGGCATTCC;NM_003211:exon9:c.1090+1->AGAGCGTGGAGTTAAGAGGAGAATCAGCTTTCAGTGGCATTCC	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	0.0002	0.0002	0	0.0001	0	0.0001	3.84e-05	1	26028	.	1.273e-05	9.077e-06	1.11e-05	1.443e-05	0.0002	5.99e-06	4.34e-06	6.176e-05	3.281e-05	0.0002	0	8.9e-05	0	3.778e-05	0	3.552e-06	3.571e-05	3.391e-05	0	1.22e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	383.03	43	chr12	103985729	.	G	GAGAGCGTGGAGTTAAGAGGAGAATCAGCTTTCAGTGGCATTCC	383.03	.	AC=1;AF=0.1;AN=10;BaseQRankSum=3.9;DP=382;ExcessHet=0.3476;FS=10.825;MLEAC=1;MLEAF=0.1;MQ=58.04;MQRankSum=-4.601;QD=3.61;ReadPosRankSum=-2.967;SOR=2.261	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:37,11:48:99:0|1:103985728_A_ATT:350,0,1468:103985728	4	0	1	2
chr12	105052102	105052102	C	A	exonic	ALDH1L2	.	nonsynonymous SNV	ALDH1L2:NM_001034173:exon12:c.G1523T:p.R508I	.	448	1073	1	0	0	1	0.000465766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.298	0.108241573402	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.883e-07	6.841e-07	0	1.384e-06	1.187e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.187e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.038	0.51421	D	0.222	0.30359	B	0.065	0.27321	B	0.000001	0.84330	D	0.092726	0.884119	0.35812	D	2.57	0.75187	M	-1.14	0.77843	T	-3.67	0.70191	D	0.43	0.46928	-0.2425	0.76561	T	0.404	0.75423	T	10	0.29903942	0.47458	T	0.108242	0.78469	D	0.298	0.61843	0.589	0.71749	0.625633723092	0.62258	0.629813400004236	0.62915	0.334820898017	0.35496	0.460889607668	0.33433	T	0.505193	0.82394	D	0.0339337	0.56245	T	-0.189033	0.55681	T	0.963299572467804	0.66617	D	0.937406	0.76468	D	0.3812371	0.59406	0.32568645	0.58482	0.3812371	0.59406	0.32568645	0.58481	-9.303	0.69626	D	.	.	0.161	0.35498	B	.	.	3.963140	0.58142	23.9	0.95363347717897651	0.26765	0.70968	0.34812	D	AEFDBI	0.273745	0.38908	N	-0.482277563559948	0.22662	1.211623	-0.510014006831223	0.21881	1.185811	0.987461163933397	0.31271	0.653281	0.48532	0	0.659037	0.61890	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	5.57	3.76	0.42368	2.347000	0.43692	2.132000	0.30787	0.599000	0.40250	0.390000	0.26087	0.483000	0.25112	0.994000	0.71098	0.1317:0.8006:0.0:0.0678	10.768	0.45505	926	0.17793	Aldehyde dehydrogenase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	273.63	26	chr12	105052102	.	C	A	273.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.241;DP=191;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.44;ReadPosRankSum=-1.867;SOR=0.963	GT:AD:DP:GQ:PL	0/1:16,13:29:99:284,0,369	6	0	1	0
chr12	108623376	108623376	G	C	exonic	SELPLG	.	nonsynonymous SNV	SELPLG:NM_001206609:exon2:c.C980G:p.A327G,SELPLG:NM_003006:exon2:c.C932G:p.A311G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.00701323914154	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.261	0.17584	T	0.264	0.24477	T	0.05	0.22331	B	0.013	0.16460	B	0.064347	0.02177	N	2.301250	1	0.08975	N	0.69	0.16971	N	2.46	0.14907	T	-0.65	0.18877	N	0.048	0.10626	-1.0436	0.16236	T	0.024	0.10239	T	10	0.060468763	0.07432	T	0.007013	0.18567	T	0.034	0.08419	0.472	0.54699	0.19670166235	0.19296	0.09162283736576306	0.09095	0.129233089581	0.14574	0.226878359914	0.01745	T	0.051675	0.28946	T	-0.351293	0.04646	T	-0.742385	0.03791	T	0.12165205925703	0.14590	T	0.391261	0.09725	T	0.021074304	0.00691	0.02488705	0.00517	0.021074304	0.00691	0.02488705	0.00516	-4.084	0.25775	T	.	.	0.100	0.19839	B	.;.;.	.;.;.	0.002451	0.04298	1.081	0.57049922942324249	0.05684	0.07399	0.13418	N	AEFDBCI	0.087670	0.17775	N	-1.25356337204289	0.04252	0.1915821	-1.38691386944095	0.03391	0.1580601	0.999991463382731	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.635259	0.50027	0	.	.	3.47	-5.51	0.02366	-0.315000	0.08122	0.937000	0.22823	0.676000	0.76740	0.000000	0.06391	0.012000	0.20211	0.016000	0.10718	0.2824:0.191:0.43:0.0966	2.269	0.03835	853	0.34956	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1061.53	38	chr12	108623376	.	G	C	1061.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.68;DP=271;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.44;ReadPosRankSum=-0.711;SOR=0.65	GT:AD:DP:GQ:PL	0/1:40,39:79:99:1072,0,891	6	0	1	0
chr12	109176233	109176233	T	A	exonic	ACACB	.	nonsynonymous SNV	ACACB:NM_001093:exon9:c.T1407A:p.S469R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.228	0.0484632866501	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.502	0.07695	T	0.404	0.14818	T	0.003	0.11197	B	0.014	0.16862	B	0.001736	0.38161	N	0.331298	0.96917	0.25767	N	0.96	0.23930	L	-4.78	0.98140	D	-2.56	0.55339	D	0.296	0.33469	0.106	0.84276	D	0.778	0.92453	D	10	0.116025835	0.21875	T	0.048463	0.63385	D	0.228	0.52768	0.424	0.46857	0.170165803431	0.16609	0.6851918386349842	0.68458	0.269621044273	0.29486	0.443333595991	0.31032	T	0.828363	0.95876	D	0.00680399	0.52588	T	-0.228003	0.51965	T	0.326452404260635	0.26081	T	0.816118	0.47137	T	0.37081146	0.58645	0.14571951	0.34550	0.37081146	0.58645	0.14571951	0.34549	-5.042	0.37293	T	.	.	0.21	0.44527	B	.;.	.;.	0.172965	0.05618	2.069	0.92973669925506719	0.22553	0.08540	0.14455	N	AEFDI	0.095542	0.19303	N	-1.2508335376001	0.04289	0.1932731	-1.26335707068112	0.04936	0.2340348	0.0262709471279253	0.13701	0.646311	0.45356	0	0.626922	0.53725	0	0.645312	0.48771	0	0.604944	0.38103	0	.	.	5.91	-5.44	0.02419	-0.940000	0.04039	-9.680000	0.00790	-0.133000	0.13014	0.004000	0.16614	0.000000	0.08366	0.991000	0.66497	0.1431:0.5181:0.0849:0.2539	6.723	0.22527	606	0.67383	Carbamoyl-phosphate synthetase large subunit-like, ATP-binding domain|ATP-grasp fold|Biotin carboxylation domain;Carbamoyl-phosphate synthetase large subunit-like, ATP-binding domain|ATP-grasp fold|Biotin carboxylation domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	291.49	34	chr12	109176233	.	T	A	291.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.26;DP=208;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.57;ReadPosRankSum=-0.585;SOR=0.573	GT:AD:DP:GQ:PL	0/1:21,13:34:99:302,0,493	6	0	1	0
chr12	113127832	113127832	G	A	exonic	RASAL1	.	nonsynonymous SNV	RASAL1:NM_001193521:exon4:c.C278T:p.A93V,RASAL1:NM_001301202:exon4:c.C278T:p.A93V,RASAL1:NM_001193520:exon5:c.C278T:p.A93V,RASAL1:NM_004658:exon5:c.C278T:p.A93V	.	404	1089	28	1	0	30	0.013587	.	.	.	713346	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.017	.	0.0075	0.00738818	0.0084	0.0022	0.0042	0	0.0055	0.0101	0.0122	0.0139	0.0079624	1231	154602	rs146551951	0.0096	0.0096	0.0095	0.0097	0.0123	0.0094	0.0094	0.0117	0.0114	0.0022	0.0056	0.0071	5.043e-05	0.0056	0.0047	0.0103	0.0094	0.0123	0.0071	0.0071	0.0073	0.0069	0.0131	0.0067	0.0066	0.0105	0.0099	0.0017	0	0.0074	0.0066	0.0002	0.0043	0.0068	0.0109	0.0095	0.0131	0.342	0.12632	T	0.434	0.13557	T	0.184	0.40782	B	0.014	0.31843	B	0.059176	0.22344	N	0.493986	0.999842	0.20103	N	1.345	0.33447	L	2.98	0.09356	T	-0.72	0.22294	N	0.193	0.25622	-0.9761	0.35882	T	0.008	0.02884	T	10	0.0050355196	0.00108	T	.	.	.	0.017	0.02790	.	.	0.411401001288	0.40751	0.352845300908533	0.35198	0.294821894989	0.31898	0.385520458221	0.23036	T	0.011193	0.10021	T	-0.582659	0.00186	T	-0.598695	0.12921	T	0.00202395652669937	0.00021	T	0.776522	0.40874	T	0.049587294	0.08829	0.03540467	0.02787	0.049587294	0.08828	0.03540467	0.02786	-3.7	0.21328	T	0.14540798866455798	0.16692	0.082	0.10256	B	.;.;.;.	.;.;.;.	2.447649	0.31515	18.76	0.35405338665834779	0.02220	0.17063	0.19672	N	AEFDBI	0.135380	0.25569	N	-0.845387034176186	0.12163	0.5912431	-0.834392559455634	0.13663	0.7100093	0.856361246458402	0.25141	0.646311	0.45356	0	0.610034	0.51514	0	0.645312	0.48771	0	0.542086	0.14980	0	.	.	5.04	1.92	0.24912	0.501000	0.22286	1.671000	0.27955	-0.166000	0.11466	0.000000	0.06391	0.817000	0.27092	0.025000	0.12405	0.0865:0.1557:0.437:0.3209	3.130	0.06034	688	0.59122	.;C2 domain|C2 domain;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.005035	0.010101	0.005435	0.005848	0.000000	0.008621	0.000000	0.007576	0.07143	773.49	36	chr12	113127832	.	G	A	773.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.077;DP=257;ExcessHet=0;FS=0.909;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.05;ReadPosRankSum=-1.181;SOR=0.608	GT:AD:DP:GQ:PL	0/1:35,35:70:99:784,0,822	6	0	1	0
chr12	121274159	121274159	C	T	exonic	CAMKK2	.	nonsynonymous SNV	CAMKK2:NM_001270486:exon1:c.G368A:p.C123Y,CAMKK2:NM_001270485:exon2:c.G368A:p.C123Y,CAMKK2:NM_006549:exon2:c.G368A:p.C123Y,CAMKK2:NM_153499:exon2:c.G368A:p.C123Y,CAMKK2:NM_153500:exon2:c.G368A:p.C123Y,CAMKK2:NM_172214:exon2:c.G368A:p.C123Y,CAMKK2:NM_172215:exon2:c.G368A:p.C123Y,CAMKK2:NM_172216:exon2:c.G368A:p.C123Y,CAMKK2:NM_172226:exon2:c.G368A:p.C123Y	.	403	1085	33	1	0	35	0.015873	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	.	0.0081	0.00858626	0.0148	0.0021	0.0093	0.0012	0.0228	0.0154	0.0241	0.0316	0.0094436	1460	154602	rs35403710	0.0097	0.0097	0.0096	0.0099	0.0161	0.0096	0.0095	0.0154	0.0151	0.0019	0.0041	0.0096	0.0004	0.0123	0.0146	0.0099	0.0092	0.0161	0.0083	0.0083	0.0079	0.0087	0.0156	0.0079	0.0078	0.0127	0.0117	0.0019	0.0593	0.0068	0.0107	0.0014	0.0145	0.0308	0.0107	0.0095	0.0156	1.0	0.14064	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.073513	0.21342	N	0.513997	0.915977	0.27403	N	0	0.06538	N	-0.6	0.71662	T	2.64	0.10656	N	0.088	0.11769	-0.9951	0.31272	T	0.061	0.25383	T	10	0.0040839314	0.00080	T	.	.	.	0.082	0.23913	.	.	0.176862962021	0.17281	0.43557359236685883	0.43474	0.621552758047	0.56441	0.368951529264	0.20682	T	0.093184	0.39159	T	-0.503794	0.00544	T	-0.482162	0.24216	T	0.000768810310415796	0.00007	T	0.79742	0.44372	T	0.021128068	0.00700	0.048166234	0.07098	0.021128068	0.00700	0.048166234	0.07097	-5.457	0.42370	T	.	.	0.073	0.05491	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	-0.374368	0.02310	0.245	0.37119601189109436	0.02427	0.20043	0.20893	N	AEFDBI	0.080568	0.16291	N	-1.29796890440581	0.03700	0.165763	-1.19460728582447	0.05999	0.2874759	0.340445358134234	0.19578	0.706548	0.73137	0	0.702456	0.74545	0	0.80507	0.99327	0	0.714379	0.83352	0	.	.	4.93	-0.258	0.12334	1.178000	0.31590	-0.630000	0.08130	-0.181000	0.10308	0.997000	0.40164	0.000000	0.08366	0.108000	0.18652	0.0:0.2583:0.1488:0.5929	4.887	0.13063	541	0.72942	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.013636	0.005102	0.016304	0.014620	0.000000	0.034483	0.012270	0.011364	0.07143	715.49	36	chr12	121274159	.	C	T	715.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.719;DP=242;ExcessHet=0;FS=1.152;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.55;ReadPosRankSum=1.67;SOR=0.919	GT:AD:DP:GQ:PL	0/1:18,28:46:99:726,0,435	6	0	1	0
chr12	122604952	122604952	G	C	exonic	KNTC1	.	nonsynonymous SNV	KNTC1:NM_014708:exon50:c.G5251C:p.V1751L	.	436	1085	1	0	0	1	0.000460617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	.	.	0.000798722	0.0010	0	0	0.0104	0	0	0	0.0016	0.0006921	107	154602	rs151223138	0.0003	0.0003	0.0002	0.0004	0.0055	0.0003	0.0003	0.0049	0.0046	0	4.504e-05	0	0.0055	0	0.0002	1.17e-05	0.0006	0.0019	0.0004	0.0004	0.0003	0.0005	0.0091	0.0003	0.0003	0.0070	0.0063	0	0	0	0	0.0091	0	0	0	0.0005	0.0027	0.013	0.53900	D	0.034	0.52727	D	0.959	0.55135	D	0.824	0.59271	P	0.004971	0.33218	N	0.316672	0.767209	0.81001	D	2.25	0.63811	M	1.66	0.27486	T	-1.73	0.41046	N	0.476	0.51137	-0.7055	0.60174	T	0.113	0.40238	T	10	0.012991369	0.00277	T	.	.	.	0.158	0.41098	0.468	0.54052	0.376216005999	0.37235	0.38138009616754037	0.38053	0.269328858967	0.29447	0.506496667862	0.39733	T	0.02009	0.15881	T	-0.403289	0.02203	T	-0.342678	0.40042	T	0.0552976416136323	0.06408	T	0.865813	0.56549	D	0.18547143	0.39911	0.18404599	0.41432	0.18547143	0.39911	0.18404599	0.41431	-2.379	0.05006	T	.	.	0.451	0.62271	A	.	.	4.016058	0.59280	24.1	0.99721347486144341	0.82054	0.97049	0.72393	D	AEFBI	0.506104	0.53697	D	0.508848021827604	0.67611	5.104829	0.496796175526212	0.67779	5.129684	0.409740662952026	0.20202	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.71	4.83	0.61880	2.817000	0.47733	8.613000	0.77777	0.618000	0.50648	0.998000	0.41325	1.000000	0.68203	0.998000	0.85391	0.0693:0.0:0.9307:0.0	14.804	0.69565	633	0.64743	RZZ complex, subunit KNTC1/ROD, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.07143	393.49	34	chr12	122604952	.	G	C	393.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.69;DP=217;ExcessHet=0;FS=1.247;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.37;ReadPosRankSum=0.09;SOR=1.058	GT:AD:DP:GQ:PL	0/1:25,17:42:99:404,0,603	6	0	1	0
chr12	122859139	122859139	G	A	exonic	HIP1R	.	nonsynonymous SNV	HIP1R:NM_003959:exon22:c.G2237A:p.R746Q	.	419	1099	4	0	0	4	0.00181653	.	.	.	738515	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.024	0.00555289682375	7.7e-05	0.000998403	0.0021	0	0.0008	0	0	0.0005	0	0.0075	0.0007374	114	154602	rs371380314	0.0005	0.0005	0.0003	0.0007	0.0057	0.0005	0.0005	0.0052	0.0051	0	0.0001	0.0012	0	0	0.0026	0.0001	0.0007	0.0057	0.0004	0.0004	0.0003	0.0004	0.0068	0.0003	0.0003	0.0050	0.0044	0	0	0	0.0012	0.0004	0	0	0.0002	0.0005	0.0068	0.586	0.05881	T	0.588	0.08273	T	0.0	0.02946	B	0.001	0.04355	B	0.542066	0.05320	N	1.211370	1	0.08975	N	-1.355	0.00654	N	2.61	0.13095	T	0.68	0.02228	N	0.129	0.12341	-0.9848	0.33879	T	0.010	0.03492	T	10	0.0022805333	0.00033	T	0.005553	0.14319	T	0.024	0.04979	.	.	0.0806252709748	0.07271	0.07767423918408493	0.07703	0.10246094813	0.11596	0.292665481567	0.09312	T	0.054321	0.29692	T	-0.7431	0.00020	T	-0.838269	0.01125	T	0.00857769675550684	0.00105	T	0.452755	0.12846	T	0.016550314	0.00205	0.02347739	0.00361	0.016550314	0.00205	0.02347739	0.00361	-2.651	0.06901	T	.	.	0.064	0.01645	B	.	.	-0.999096	0.00773	0.025	0.7839907049257957	0.12284	0.01930	0.05886	N	AEFDBI	0.038439	0.05440	N	-1.77706593640299	0.00603	0.026015	-1.83626921154056	0.00650	0.02889922	0.999999793887542	0.74766	0.67177	0.52595	0	0.694456	0.67091	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	5.15	-10.3	0.00281	-1.943000	0.01630	-4.639000	0.02056	-0.774000	0.03397	0.000000	0.06391	0.000000	0.08366	0.181000	0.21328	0.6099:0.1645:0.0917:0.1339	4.626	0.11863	314	0.87270	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.003571	0.005263	0.001362	0.002994	0.000000	0.008929	0.003125	0.007634	0.07143	78.53	34	chr12	122859139	.	G	A	78.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.37;DP=185;ExcessHet=0;FS=2.963;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=5.61;ReadPosRankSum=0.992;SOR=0.148	GT:AD:DP:GQ:PL	0/1:10,4:14:89:89,0,330	6	0	1	0
chr12	124012566	124012566	A	G	exonic	ZNF664	.	nonsynonymous SNV	ZNF664:NM_001204298:exon5:c.A422G:p.K141R,ZNF664:NM_152437:exon5:c.A422G:p.K141R	.	410	1021	91	0	0	91	0.0426629	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.164	.	0.0055	0.0109824	0.0125	0.0008	0.0078	0	0.0011	0.0108	0.0188	0.0410	0.0112547	1740	154602	rs150362388	0.0088	0.0090	0.0078	0.0098	0.0396	0.0087	0.0086	0.0385	0.0380	0.0010	0.0061	0.0409	2.519e-05	0.0022	0.0243	0.0063	0.0130	0.0396	0.0067	0.0070	0.0060	0.0074	0.0446	0.0064	0.0062	0.0397	0.0378	0.0010	0.0618	0.0057	0.0414	0	0.0010	0.0204	0.0066	0.0066	0.0446	0.048	0.40068	D	0.05	0.48080	T	0.998	0.73220	D	0.956	0.69739	D	0.000711	0.42254	D	0.000000	0.995453	0.42699	D	0.47	0.13106	N	1.83	0.24841	T	-2.33	0.51646	N	0.019	0.00279	-1.0759	0.08164	T	0.069	0.28147	T	10	0.004956186	0.00106	T	.	.	.	0.164	0.42212	.	.	.	.	0.0231800799893291	0.02270	1.82181212601	0.91961	0.833988547325	0.87174	D	0.030176	0.21449	T	-0.433228	0.01418	T	-0.389105	0.34655	T	0.0161618254466552	0.00392	T	0.773923	0.40554	T	0.10536492	0.24911	0.120088995	0.28984	0.10536492	0.24911	0.120088995	0.28983	-6.775	0.52373	T	.	.	0.224	0.46458	B	.;.;.;.	.;.;.;.	3.907745	0.56965	23.8	0.99852841245123192	0.93191	0.97984	0.78636	D	AEFBI	0.688240	0.64931	D	0.467145638787452	0.65182	4.790512	0.456292471123958	0.65122	4.784035	0.999996081217093	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.25	4.25	0.49658	2.148000	0.41859	8.602000	0.77731	0.658000	0.54486	0.927000	0.32177	1.000000	0.68203	0.996000	0.76049	1.0:0.0:0.0:0.0	11.974	0.52370	749	0.51929	Zinc finger C2H2-type;Zinc finger C2H2-type;Zinc finger C2H2-type;Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.017623	0.005051	0.010870	0.014620	0.000000	0.008621	0.024390	0.045455	0.07143	415.44	33	chr12	124012566	.	A	G	415.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.064;DP=260;ExcessHet=0;FS=1.073;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.16;ReadPosRankSum=-0.412;SOR=0.52	GT:AD:DP:GQ:PL	0/1:40,18:58:99:426,0,1105	6	0	1	0
chr12	131849915	131849915	A	G	exonic	MMP17	.	nonsynonymous SNV	MMP17:NM_016155:exon9:c.A1318G:p.N440D	.	427	1083	12	0	0	12	0.00550964	.	.	.	724989	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.143	.	0.0072	0.0061901	0.0049	0.0107	0.0048	0	0.0023	0.0058	0.0089	0.0015	0.0049611	767	154602	rs139162290	0.0045	0.0045	0.0047	0.0044	0.0175	0.0044	0.0044	0.0147	0.0137	0.0105	0.0054	0.0078	2.519e-05	0.0027	0.0175	0.0045	0.0069	0.0014	0.0066	0.0066	0.0070	0.0063	0.0105	0.0063	0.0062	0.0093	0.0090	0.0101	0.0570	0.0105	0.0072	0	0.0028	0.0068	0.0043	0.0114	0.0008	0.248	0.48642	T	0.035	0.52389	D	0.886	0.48745	P	0.68	0.53472	P	0.000000	0.84330	D	0.000000	0.999398	0.81001	D	1.505	0.38159	L	2.16	0.19166	T	-4.07	0.78388	D	0.38	0.42541	-1.1411	0.01318	T	0.051	0.21650	T	10	0.00799194	0.00181	T	.	.	.	0.143	0.38195	.	.	0.450539155747	0.44678	0.7420346890705607	0.74149	0.269835438501	0.29508	0.504001259804	0.39385	T	0.165505	0.51138	T	-0.546058	0.00308	T	-0.547756	0.17541	T	0.0944945066890397	0.11740	T	0.849215	0.53152	T	0.5497218	0.69940	0.47569257	0.69618	0.5497218	0.69941	0.47569257	0.69618	-12.48	0.88103	D	.	.	0.113	0.40015	B	.;.;.;.	.;.;.;.	3.288126	0.45079	22.1	0.99633114491927033	0.76142	0.97061	0.72463	D	AEFDBI	0.721766	0.67191	D	0.280012812324219	0.55137	3.677929	0.266853700865674	0.53614	3.529511	0.926956279998203	0.26870	0.695654	0.57023	0	0.547309	0.14657	0	0.723109	0.80598	0	0.655142	0.61905	0	.	.	4.6	3.44	0.38486	6.145000	0.71533	4.335000	0.43039	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.8367:0.0:0.1633:0.0	8.326	0.31317	982	0.03397	Hemopexin-like domain;.;Hemopexin-like domain;Hemopexin-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.020645	0.040404	0.024457	0.026316	0.000000	0.008621	0.009146	0.000000	0.07143	1205.49	43	chr12	131849915	.	A	G	1205.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.648;DP=284;ExcessHet=0;FS=0.749;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.18;ReadPosRankSum=0.911;SOR=0.612	GT:AD:DP:GQ:PL	0/1:43,56:99:99:1216,0,970	6	0	1	0
chr12	132490772	132490774	CGC	-	exonic	FBRSL1	.	nonframeshift deletion	FBRSL1:NM_001142641:exon1:c.202_204del:p.R72del,FBRSL1:NM_001367871:exon1:c.202_204del:p.R72del,FBRSL1:NM_001382739:exon1:c.202_204del:p.R72del,FBRSL1:NM_001382740:exon1:c.202_204del:p.R72del,FBRSL1:NM_001382741:exon1:c.202_204del:p.68_68del,FBRSL1:NM_001382743:exon1:c.202_204del:p.R72del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0042	.	0.0065	0	0	0	.	0.0025	0	0.0090	6.5e-06	1	154602	rs759479008	0.0003	0.0046	0.0002	0.0003	0.0017	0.0002	0.0002	0.0010	0.0007	0.0004	0.0017	0.0005	0.0007	0.0017	0.0007	0.0002	0.0004	0.0009	6.699e-06	5.265e-05	1.308e-05	0	.	0	0	.	.	0	0	0	0	0	0.0001	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	37.79	12	chr12	132490771	.	GCGC	G	37.79	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.449;DP=149;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=2.7;ReadPosRankSum=1.37;SOR=0.446	GT:AD:DP:GQ:PL	0/1:12,2:14:48:48,0,498	6	0	1	0
chr13	24501670	24501670	G	C	exonic	PARP4	.	nonsynonymous SNV	PARP4:NM_006437:exon3:c.C297G:p.D99E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	0.00139481124931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.498	0.07797	T	0.135	0.34124	T	0.004	0.12183	B	0.003	0.08700	B	0.196466	0.03288	N	1.601250	1	0.08975	N	1.63	0.41750	L	4.68	0.01715	T	-0.84	0.22944	N	0.082	0.05799	-0.9182	0.45797	T	0.005	0.01725	T	10	0.055608064	0.06105	T	0.001395	0.02037	T	0.020	0.03691	0.252	0.19067	0.253726318573	0.24972	0.14910334178112852	0.14832	0.107898415027	0.12170	0.333727955818	0.15496	T	0.035072	0.23573	T	-0.356819	0.04312	T	-0.750322	0.03473	T	0.0603166222572327	0.07218	T	0.438156	0.12052	T	0.03591629	0.04319	0.025083201	0.00542	0.03591629	0.04319	0.025083201	0.00542	-2.975	0.09914	T	.	.	0.135	0.29200	B	.	.	-0.472378	0.01957	0.168	0.59208189562296687	0.06170	0.07796	0.13793	N	AEFBCI	0.053497	0.09645	N	-1.45348111483436	0.02189	0.09640692	-1.48407381814211	0.02475	0.1138722	0.999729188236757	0.42220	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.635259	0.50027	0	.	.	5.03	-1.75	0.07598	-1.060000	0.03586	0.269000	0.16635	-0.768000	0.03469	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3881:0.0:0.2833:0.3286	3.188	0.06215	964	0.07719	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	173.53	34	chr13	24501670	.	G	C	173.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.446;DP=196;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.57;ReadPosRankSum=0.449;SOR=0.892	GT:AD:DP:GQ:PL	0/1:7,8:15:99:184,0,199	6	0	1	0
chr13	30428166	30428166	C	A	exonic	UBE2L5	.	nonsynonymous SNV	UBE2L5:NM_001355247:exon4:c.C176A:p.A59E	.	426	1092	4	0	0	4	0.00182815	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs1006508032	7.84e-05	7.94e-05	7.669e-05	8.012e-05	0.0005	6.635e-05	6.174e-05	0.0001	7.57e-05	2.999e-05	2.237e-05	0	0	1.872e-05	0.0005	8.507e-05	0.0002	0	7.893e-05	7.882e-05	0.0001	2.693e-05	0.0002	4.501e-05	3.515e-05	9.051e-05	7.014e-05	0	0	6.556e-05	0	0	0	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26512894	0.44007	T	.	.	.	.	.	.	.	.	.	0.33934296686967286	0.33847	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.757524	0.38090	T	0.14178796	0.32656	0.4693842	0.69226	0.14178796	0.32656	0.4693842	0.69226	-9.76	0.72462	D	.	.	0.268	0.54383	B	.;.;.	.;.;.	2.177675	0.27758	17.57	0.88350078539445354	0.17908	0.66302	0.33031	D	AEFI	.	.	.	.	.	.	.	.	.	0.999999808590735	0.74766	0.162113	0.03585	0	0.18701	0.04157	0	0.083675	0.02720	0	0.24566	0.04862	0	0.784981	0.46409	1.31	1.31	0.20837	4.199000	0.58223	0.567000	0.19568	-0.316000	0.05924	1.000000	0.71638	1.000000	0.68203	0.947000	0.49155	0.0:1.0:0.0:0.0	8.567	0.32708	812	0.42537	Ubiquitin-conjugating enzyme E2|Ubiquitin-conjugating enzyme E2|Ubiquitin-conjugating enzyme E2;Ubiquitin-conjugating enzyme E2|Ubiquitin-conjugating enzyme E2|Ubiquitin-conjugating enzyme E2;Ubiquitin-conjugating enzyme E2|Ubiquitin-conjugating enzyme E2|Ubiquitin-conjugating enzyme E2	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	164.27	36	chr13	30428166	.	C	A	164.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.461;DP=189;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.95;ReadPosRankSum=0.508;SOR=0.941	GT:AD:DP:GQ:PL	0/1:8,7:15:99:174,0,246	5	0	1	1
chr13	37005941	37005941	C	A	exonic	EXOSC8	.	nonsynonymous SNV	EXOSC8:NM_181503:exon6:c.C260A:p.P87H	Pontocerebellar hypoplasia, type 1C, Autosomal recessive	431	1082	9	0	0	9	0.00414174	.	.	.	2072188	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.662	.	0.0065	0.00539137	0.0106	0.0015	0.0534	0	0.0038	0.0082	0.0077	0.0046	0.0102457	1584	154602	rs117135638	0.0086	0.0087	0.0088	0.0085	0.0410	0.0085	0.0085	0.0395	0.0388	0.0012	0.0410	0.0065	0	0.0052	0.0035	0.0085	0.0067	0.0050	0.0072	0.0072	0.0076	0.0068	0.0180	0.0068	0.0067	0.0162	0.0155	0.0019	0.0175	0.0180	0.0069	0	0.0034	0.0069	0.0092	0.0057	0.0039	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.992	0.80445	D	0.000000	0.84330	D	0.044343	1	0.81001	D	3.98	0.96631	H	-0.53	0.70833	T	-5.91	0.88904	D	0.199	0.21969	0.048	0.83201	D	0.432	0.77316	T	10	0.009628981	0.00217	T	.	.	.	0.662	0.87381	.	.	.	.	0.7475105619014472	0.74697	0.734655633325	0.62909	0.499908030033	0.38815	T	0.37257	0.73673	T	-0.098843	0.36618	T	0.118099	0.78110	D	0.133800031171326	0.15728	T	0.955504	0.83071	D	0.95013887	0.96280	0.9560138	0.98752	0.916618	0.92922	0.9560138	0.98752	-9.367	0.70028	D	0.7855991790469512	0.86484	0.715	0.73583	P	.	.	4.974034	0.82343	27.8	0.99709429343799139	0.81213	0.99266	0.93678	D	AEFBI	0.904527	0.85494	D	0.950582108999554	0.94008	12.43485	0.923403969295697	0.96513	14.78992	1.0	0.98316	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.93	5.93	0.95888	7.514000	0.80644	7.627000	0.62562	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	20.354	0.98826	787	0.46738	Exoribonuclease, phosphorolytic domain 1	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001511	0.000000	0.001359	0.000000	0.050000	0.000000	0.003049	0.003788	0.07143	73.49	33	chr13	37005941	.	C	A	73.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.357;DP=223;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=4.9;ReadPosRankSum=-1.373;SOR=0.33	GT:AD:DP:GQ:PL	0/1:11,4:15:84:84,0,307	6	0	1	0
chr13	38859428	38859428	G	C	exonic	FREM2	.	nonsynonymous SNV	FREM2:NM_207361:exon14:c.G7357C:p.V2453L	Fraser syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	0.0142809241756	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.426e-06	0.0001	5.454e-06	1.377e-06	4.505e-06	1e-06	7.3e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.505e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.016	0.60972	D	.	.	.	.	.	.	0.000203	0.47681	N	0.139815	0.999998	0.58761	D	.	.	.	1.88	0.23884	T	-1.95	0.45222	N	0.416	0.45615	-0.9811	0.34748	T	0.091	0.34847	T	10	0.29562914	0.47131	T	0.014281	0.34290	T	0.156	0.40720	0.299	0.26522	0.426670027402	0.42282	0.510707213402808	0.50992	0.115962092506	0.13078	0.591294765472	0.51677	T	.	.	.	-0.139472	0.29976	T	-0.438119	0.29019	T	0.881288886070251	0.53134	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.362	0.57361	A	.	.	2.487454	0.32091	18.94	0.98227814918200052	0.39360	0.97595	0.75784	D	AEFBI	0.688535	0.64950	D	0.180157683667661	0.50246	3.21658	0.185006421886382	0.49024	3.110789	0.791277744604143	0.24019	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.86	4.14	0.47821	5.015000	0.63798	5.657000	0.49204	-0.816000	0.03012	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.063:0.1148:0.7031:0.1191	8.428	0.31901	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	453.09	45	chr13	38859428	.	G	C	453.09	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-3.538;DP=745;ExcessHet=2.5225;FS=268.6;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=0.92;ReadPosRankSum=1.78;SOR=10.778	GT:AD:DP:GQ:PL	0/1:42,26:68:99:187,0,725	2	0	4	1
chr13	41811297	41811297	C	T	exonic	VWA8	.	nonsynonymous SNV	VWA8:NM_001009814:exon17:c.G1991A:p.R664Q,VWA8:NM_015058:exon17:c.G1991A:p.R664Q	.	435	1083	4	0	0	4	0.00184332	.	.	.	2279354	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.327	0.057883720797	7.7e-05	.	0.0003	0.0002	0.0003	0	0	0.0003	0.0011	0.0005	0.0002393	37	154602	rs149571852	0.0002	0.0002	0.0001	0.0002	0.0005	0.0001	0.0001	0.0003	0.0003	0	0.0004	3.842e-05	0	0	0.0005	0.0002	0.0002	0.0005	0.0001	0.0001	8.996e-05	0.0002	0.0012	9.147e-05	7.702e-05	0.0005	0.0004	0	0	0.0002	0	0	0	0	0.0002	0.0005	0.0012	0.01	0.59928	D	0.017	0.60337	D	1.0	0.90584	D	0.987	0.77487	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.62	0.76659	M	0.87	0.46412	T	-3.19	0.68880	D	0.753	0.92317	-0.3835	0.72543	T	0.311	0.68130	T	10	0.56253177	0.64869	D	0.057884	0.67124	D	0.327	0.64926	.	.	0.438806408302	0.43502	0.6270628148936381	0.62639	0.349453596639	0.36798	0.663333714008	0.61887	T	0.394871	0.75390	T	-0.181925	0.23450	T	-0.149667	0.59273	T	0.308584481477737	0.25356	T	0.990672	0.97110	D	0.41144735	0.61517	0.31283665	0.57284	0.41144735	0.61518	0.31283665	0.57283	-14.635	0.95020	D	.	.	0.389	0.59103	A	.;.	.;.	4.604419	0.72959	25.9	0.99957356993585311	0.99981	0.96561	0.69756	D	AEFDGBI	0.670673	0.63768	D	0.725505066352173	0.81305	7.490999	0.640520158915922	0.77905	6.770537	0.999999999999718	0.74766	0.608746	0.35421	0	0.627608	0.54475	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.27	5.27	0.73797	6.820000	0.75057	7.648000	0.63548	0.549000	0.26987	0.994000	0.38300	1.000000	0.68203	0.259000	0.23493	0.0:1.0:0.0:0.0	18.478	0.90748	838	0.37812	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.1429	2902.26	35	chr13	41811297	.	C	T	2902.26	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.711;DP=360;ExcessHet=0.3476;FS=1.046;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=13.37;ReadPosRankSum=2.07;SOR=0.772	GT:AD:DP:GQ:PL	0/1:35,47:82:99:1056,0,711	5	0	2	0
chr13	41865758	41865758	A	C	exonic	VWA8	.	nonsynonymous SNV	VWA8:NM_001009814:exon12:c.T1403G:p.I468R,VWA8:NM_015058:exon12:c.T1403G:p.I468R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.422	0.0529848170376	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.193	0.30436	T	0.564	0.38410	P	0.633	0.51840	P	0.000000	0.84330	D	0.049566	1	0.81001	D	1.32	0.33002	L	0.99	0.41750	T	-4.18	0.75854	D	0.813	0.83678	-0.8799	0.49770	T	0.155	0.48568	T	10	0.9266692	0.92014	D	0.052985	0.65289	D	0.422	0.73078	0.813	0.92857	0.253726318573	0.24972	0.7712940886209584	0.77079	0.366955075449	0.38266	0.431478142738	0.29410	T	0.214297	0.57585	T	0.173074	0.71405	D	0.0108322	0.71036	D	0.983436346054077	0.75103	D	0.935906	0.78031	D	0.62003535	0.73765	0.5816988	0.75752	0.62003535	0.73766	0.5816988	0.75753	-15.627	0.97148	D	.	.	0.280	0.53899	B	.;.	.;.	3.862502	0.56023	23.7	0.98306990908708591	0.40106	0.98001	0.78774	D	AEFBI	0.742519	0.68611	D	0.316906405902841	0.57015	3.867527	0.361442200710862	0.59202	4.095898	0.999750226676675	0.42595	0.732398	0.92422	0	0.743671	0.97443	0	0.659464	0.59346	0	0.613276	0.41899	0	.	.	5.3	4.12	0.47504	6.177000	0.71893	7.075000	0.57453	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.9279:0.0:0.0721:0.0	11.288	0.48467	856	0.34373	ATPase, dynein-related, AAA domain|AAA+ ATPase domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	279.83	24	chr13	41865758	.	A	C	279.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.347;DP=186;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.76;ReadPosRankSum=0.077;SOR=0.693	GT:AD:DP:GQ:PL	0/1:13,13:26:99:290,0,285	6	0	1	0
chr13	42303097	42303097	G	C	exonic	AKAP11	.	nonsynonymous SNV	AKAP11:NM_016248:exon8:c.G4351C:p.V1451L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.00348779331928	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0058	0.0001	0.0001	0.0004	0.0001	0.0001	0.0001	0.0001	0.0001	2.239e-05	0.0002	0.0001	0	0.0004	0.0002	0.0001	5.842e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.732	0.03787	T	0.652	0.06690	T	0.0	0.02946	B	0.0	0.01387	B	0.384222	0.04439	N	1.329080	1	0.08975	N	-0.695	0.01866	N	1.03	0.40469	T	0.12	0.05604	N	0.01	0.00095	-1.0487	0.14761	T	0.025	0.10553	T	10	0.03053692	0.01181	T	0.003488	0.07908	T	0.040	0.10527	0.282	0.23801	0.174091166621	0.17034	0.08873411500846382	0.08806	0.0437477432083	0.04714	0.247362196445	0.03495	T	0.00156	0.01004	T	-0.357409	0.04279	T	-0.75117	0.03440	T	0.0190869918422606	0.00616	T	0.254375	0.03921	T	0.018132178	0.00335	0.025108913	0.00546	0.018132178	0.00334	0.025108913	0.00545	-2.626	0.06703	T	.	.	0.106	0.19839	B	.	.	-0.851205	0.01010	0.042	0.27875280092314592	0.01405	0.12762	0.17464	N	AEFBCI	0.031390	0.03350	N	-1.67084211627419	0.00950	0.04116467	-1.65714055191059	0.01339	0.06045885	0.999931029354219	0.46732	0.706548	0.73137	0	0.702456	0.74545	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.98	-6.75	0.01575	0.231000	0.17651	-0.238000	0.10617	-0.111000	0.15049	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.2747:0.1624:0.2842:0.2787	0.459	0.00478	675	0.60470	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3571	599.43	61	chr13	42303097	.	G	C	599.43	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-1.816;DP=548;ExcessHet=4.7409;FS=227.48;MLEAC=5;MLEAF=0.357;MQ=60;MQRankSum=0;QD=1.35;ReadPosRankSum=1.65;SOR=9.17	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:32,16:48:46:.:.:46,0,603:.	2	0	5	0
chr13	48459808	48459808	T	C	exonic	RB1	.	nonsynonymous SNV	RB1:NM_000321:exon20:c.T2081C:p.L694P	Bladder cancer, somatic;Osteosarcoma, somatic;Retinoblastoma, Autosomal dominant, Somatic mutation;Retinoblastoma, trilateral, Autosomal dominant, Somatic mutation;Small cell cancer of the lung, somatic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.976	0.602785562062	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.392e-06	5.093e-05	2.774e-06	0	1.836e-06	2.3e-07	9e-08	3.1e-07	1.1e-07	0	0	0	0	0	0	1.836e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000001	0.62929	D	0.000000	1	0.81001	D	3.345	0.91022	M	-3.77	0.95595	D	-6.07	0.89871	D	0.984	0.99337	1.097	0.99525	D	0.943	0.98136	D	10	0.9566928	0.95037	D	0.602786	0.96508	D	0.976	0.99783	0.78	0.90465	0.995699770876	0.99565	0.980477162488264	0.98038	1.68776258327	0.90085	0.897795319557	0.96192	D	0.975174	0.99754	D	0.560843	0.96253	D	0.567835	0.96194	D	0.999335587024689	0.97004	D	0.909909	0.68110	D	0.9948388	0.99958	0.97334516	0.99602	0.9948388	0.99958	0.97334516	0.99602	-13.406	0.90966	D	0.9398642061341252	0.97687	0.998	0.97486	P	.;.	.;.	5.226627	0.87722	29.3	0.99926600234762908	0.99103	0.97876	0.77794	D	AEFBI	0.964519	0.98666	D	0.915122981473785	0.92480	11.44748	0.844938188139194	0.92718	11.58983	0.999996381698106	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.659464	0.59346	0	0.714379	0.83352	0	.	.	5.48	5.48	0.80675	7.674000	0.83146	7.932000	0.75071	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.0:1.0	15.564	0.76018	726	0.54788	Retinoblastoma-associated protein, B-box|Cyclin-like|Cyclin-like;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	257.6	65	chr13	48459808	.	T	C	257.6	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-1.879;DP=428;ExcessHet=3.1439;FS=244.247;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=0.76;ReadPosRankSum=1.1;SOR=9.044	GT:AD:DP:GQ:PL	0/1:27,19:46:99:119,0,332	2	0	4	1
chr13	72744992	72744992	A	T	exonic	BORA	.	stopgain	BORA:NM_001366664:exon6:c.A370T:p.R124X,BORA:NM_001286747:exon7:c.A313T:p.R105X,BORA:NM_001286746:exon8:c.A523T:p.R175X,BORA:NM_024808:exon8:c.A523T:p.R175X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.083122	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.936	0.95725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.619807	0.98345	D	0.652534	0.98317	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.;.	High;.;.	8.501412	0.97644	37	0.99776912857367661	0.86433	0.98700	0.85746	D	AEBI	0.124183	0.24013	N	1.15896281980096	0.99083	20.59423	1.0309930599886	0.99141	20.87509	0.999999990120005	0.74766	0.651	0.46895	0	0.653731	0.59785	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	6.07	6.07	0.98675	6.852000	0.75227	7.989000	0.76104	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	16.641	0.84955	936	0.14734	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	40.63	24	chr13	72744992	.	A	T	40.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.022;DP=172;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=3.13;ReadPosRankSum=-1.087;SOR=0.18	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:11,2:13:51:0|1:72744992_A_T:51,0,456:72744992	6	0	1	0
chr13	72744993	72744993	G	T	exonic	BORA	.	nonsynonymous SNV	BORA:NM_001366664:exon6:c.G371T:p.R124I,BORA:NM_001286747:exon7:c.G314T:p.R105I,BORA:NM_001286746:exon8:c.G524T:p.R175I,BORA:NM_024808:exon8:c.G524T:p.R175I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.090650722597	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	0.42199	D	0.005	0.79402	D	0.853	0.47048	P	0.604	0.50922	P	0.000000	0.84330	D	0.083122	0.999987	0.54805	D	.	.	.	1.38	0.34050	T	-3.21	0.64826	D	0.568	0.60918	-0.5208	0.67884	T	0.314	0.68415	T	10	0.6080594	0.67287	D	0.090651	0.75558	D	0.215	0.50805	.	.	0.568643509186	0.56530	0.5115730534236541	0.51079	1.0738102651	0.76908	0.418216526508	0.27592	T	0.134384	0.46560	T	0.0302844	0.55761	T	-0.194275	0.55188	T	0.985234200954437	0.76288	D	0.956971	0.83666	D	.	.	.	.	.	.	.	.	-3.389	0.14909	T	.	.	0.312	0.53884	B	.;.;.	.;.;.	4.854921	0.79394	27.1	0.9777110931817572	0.35869	0.94857	0.62571	D	AEFBI	0.393376	0.47105	N	0.173558933678382	0.49933	3.188315	0.254619651275823	0.52912	3.463018	0.999979708543476	0.50053	0.651	0.46895	0	0.653731	0.59785	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	6.17	5.33	0.75683	2.921000	0.48549	7.606000	0.61733	-0.127000	0.13314	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.1315:0.0:0.8685:0.0	12.709	0.56447	936	0.14734	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	40.63	24	chr13	72744993	.	G	T	40.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.022;DP=178;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=3.13;ReadPosRankSum=-0.99;SOR=0.18	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:11,2:13:51:0|1:72744992_A_T:51,0,456:72744992	6	0	1	0
chr13	76992174	76992174	T	C	exonic	CLN5	.	nonsynonymous SNV	CLN5:NM_001366624:exon1:c.T76C:p.W26R,CLN5:NM_006493:exon1:c.T76C:p.W26R	Ceroid lipofuscinosis, neuronal, 5, Autosomal recessive	1	1495	26	0	0	26	0.00862069	.	.	.	202778	not_provided|Neuronal_ceroid_lipofuscinosis_5|CLN5-related_disorder|Neuronal_ceroid_lipofuscinosis|Inborn_genetic_diseases|not_specified	MedGen:C3661900|MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731,Orphanet:168491,Orphanet:228360|.|MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730,Orphanet:216,Orphanet:79263|MeSH:D030342,MedGen:C0950123|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.251	0.00466099649959	0.0013	0.000599042	0.0018	0.0003	0.0005	0	0	0.0025	0	0.0022	0.0012742	197	154602	rs199727787	0.0012	0.0012	0.0011	0.0012	0.0164	0.0011	0.0011	0.0134	0.0123	0.0006	0.0003	0.0223	2.529e-05	0	0.0164	0.0005	0.0034	0.0023	0.0012	0.0012	0.0012	0.0013	0.0023	0.0011	0.0010	0.0013	0.0010	0.0003	0	0.0005	0.0242	0	0	0.0171	0.0009	0.0014	0.0023	.	.	.	.	.	.	0.0	0.02946	B	0.001	0.04355	B	0.074966	0.21251	N	0.503542	1	0.08975	N	0	0.06538	N	.	.	.	.	.	.	.	.	-0.9557	0.39970	T	0.046	0.19760	T	10	0.004347682	0.00088	T	0.004661	0.11566	T	0.251	0.56024	0.614	0.74768	0.328752806141	0.32485	.	.	0.315112313597	0.33798	0.714274346828	0.69213	T	0.073766	0.46340	T	-0.333011	0.05887	T	-0.257291	0.49095	T	0.0035346265132851	0.00037	T	0.272073	0.04599	T	0.08435695	0.19522	0.08009138	0.18088	0.08435695	0.19522	0.08009138	0.18087	-2.851	0.08663	T	.	.	0.121	0.25166	B	.;.;.;.;.;.	.;.;.;.;.;.	0.902027	0.12763	9.278	0.40149424438879883	0.02815	0.06829	0.12853	N	AEFGBHCI	0.038351	0.05414	N	-1.32289881432295	0.03414	0.1524763	-1.40063660044462	0.03246	0.1510322	0.9999999999992	0.74766	0.266657	0.04791	1	0.484254	0.07192	0	0.239995	0.05000	1	0.249971	0.05119	0	.	.	3.96	-1.88	0.07294	-0.016000	0.12550	0.602000	0.19937	-0.238000	0.07553	0.012000	0.18695	0.085000	0.22446	0.009000	0.08673	0.1477:0.3857:0.0:0.4666	4.782	0.12574	907	0.22727	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.014374	0.005263	0.008174	0.043210	0.000000	0.025862	0.015723	0.007634	0.1429	1147.26	39	chr13	76992174	.	T	C	1147.26	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.61;DP=287;ExcessHet=0.3476;FS=1.401;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=8.96;ReadPosRankSum=0.423;SOR=0.781	GT:AD:DP:GQ:PL	0/1:21,18:39:99:410,0,467	5	0	2	0
chr13	99965478	99965478	C	T	exonic	ZIC5	.	nonsynonymous SNV	ZIC5:NM_033132:exon2:c.G1891A:p.A631T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	0.00345718274198	.	.	3.299e-05	0	0	0	0	6.001e-05	0	0	2.59e-05	4	154602	rs766276619	6.157e-06	6.156e-06	4.084e-06	8.252e-06	4.474e-05	2.9e-06	2.1e-06	7.42e-06	2.77e-06	0	4.474e-05	0	0	0	0	4.497e-06	1.656e-05	1.16e-05	1.314e-05	1.313e-05	0	2.691e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.013	0.53900	D	0.155	0.31936	T	0.068	0.23728	B	0.022	0.19653	B	.	.	.	.	0.972736	0.38969	D	2.135	0.59519	M	2.75	0.11622	T	-1.8	0.42384	N	0.114	0.10198	-1.1079	0.03256	T	0.030	0.12848	T	9	0.09726268	0.17504	T	0.003457	0.07817	T	0.053	0.14996	0.393	0.41770	0.241078983079	0.23725	0.34468045457523755	0.34382	.	.	0.396808922291	0.24625	T	0.213093	0.57432	T	-0.292914	0.09345	T	-0.528076	0.19480	T	0.183266083294932	0.19438	T	0.768423	0.39759	T	0.17942446	0.39012	0.22983395	0.48067	0.17942446	0.39012	0.22983395	0.48066	-3.292	0.13634	T	.	.	0.117	0.23570	B	.	.	3.360687	0.46396	22.3	0.99810804304825129	0.89442	0.95839	0.66374	D	AEFDBI	0.309178	0.41555	N	0.0268306464446518	0.43078	2.607834	0.201934150421942	0.49956	3.192706	0.999999999908748	0.74766	0.722319	0.85440	0	0.59043	0.45803	0	0.698795	0.65105	0	0.530356	0.10902	0	.	.	6.06	5.21	0.72005	1.902000	0.39479	2.761000	0.34604	0.599000	0.40250	0.871000	0.30813	0.994000	0.32194	0.991000	0.66497	0.0:0.9295:0.0:0.0705	14.476	0.67128	567	0.70732	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	712.53	34	chr13	99965478	.	C	T	712.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.043;DP=229;ExcessHet=0;FS=1.033;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.5;ReadPosRankSum=0.195;SOR=0.527	GT:AD:DP:GQ:PL	0/1:23,34:57:99:723,0,512	6	0	1	0
chr13	102738219	102738219	C	G	exonic	CCDC168	.	nonsynonymous SNV	CCDC168:NM_001146197:exon4:c.G12478C:p.V4160L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.167e-05	0.0022	6.326e-05	3.979e-05	6.248e-05	4.177e-05	3.835e-05	5.038e-05	4.595e-05	0	2.807e-05	0	0	0	0	6.248e-05	3.499e-05	2.541e-05	1.334e-05	2.64e-05	1.303e-05	1.368e-05	1.486e-05	2.22e-06	8.3e-07	.	.	0	0	0	0	0	9.686e-05	0	1.486e-05	0	0	.	.	.	0.068	0.44106	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	0.19459	.	.	.	.	.	.	.	0.09865704	0.17852	T	.	.	.	.	.	.	.	0.0806252709748	0.07271	0.022759760475440007	0.02227	.	.	0.381038725376	0.22403	T	.	.	.	-0.129836	0.31521	T	-0.424277	0.30586	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.349	0.56507	A	.	.	0.179806	0.05674	2.123	0.42346026630768363	0.03115	0.07449	0.13466	N	AEFBI	.	.	.	.	.	.	.	.	.	0.921212253802681	0.26663	0.06567	0.01388	0	0.059962	0.00310	0	0.063197	0.01477	0	0.075334	0.01956	0	0.0512898	0.10407	3.08	0.322	0.15131	1.882000	0.39283	-0.398000	0.09429	0.454000	0.21428	0.029000	0.20367	0.000000	0.08366	0.017000	0.10941	0.0:0.5804:0.0:0.4196	5.169	0.14429	951	0.11083	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2143	367.67	107	chr13	102738219	.	C	G	367.67	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-4.291;DP=876;ExcessHet=1.1394;FS=197.265;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=0.73;ReadPosRankSum=2.24;SOR=9.811	GT:AD:DP:GQ:PL	0/1:74,25:99:27:27,0,1810	4	0	3	0
chr13	102745579	102745579	T	G	exonic	CCDC168	.	nonsynonymous SNV	CCDC168:NM_001146197:exon4:c.A5118C:p.K1706N	.	434	1086	2	0	0	2	0.000919963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0	0	0	0	0.0002	0	0.0004	3.88e-05	6	154602	rs779187550	0.0001	0.0001	0.0001	0.0001	0.0012	0.0001	0.0001	0.0006	0.0004	3.169e-05	0.0002	0	0	0	0.0012	0.0001	0.0002	0.0003	4.603e-05	4.597e-05	5.143e-05	4.038e-05	0.0001	2.111e-05	1.528e-05	2.848e-05	1.859e-05	0	0	0.0001	0	0	0	0	7.356e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.139	0.13769	.	.	.	.	.	.	.	0.065915525	0.08963	T	.	.	.	.	.	.	.	0.0666544352282	0.05500	0.09162162551473028	0.09095	.	.	0.461871683598	0.33567	T	.	.	.	-0.346931	0.04923	T	-0.432989	0.29597	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.542	0.66437	A	.	.	1.710861	0.21783	15.35	0.74016759180102554	0.10539	0.02165	0.06354	N	AEFGBI	.	.	.	.	.	.	.	.	.	0.939792936601623	0.27403	0.06567	0.01388	0	0.059962	0.00310	0	0.063197	0.01477	0	0.075334	0.01956	0	0.0775947	0.17851	3.46	0.912	0.18476	0.397000	0.20608	0.217000	0.16029	0.665000	0.62972	0.001000	0.13787	0.001000	0.17328	0.052000	0.15357	0.0:0.1287:0.3119:0.5594	3.720	0.07980	943	0.12886	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1496.44	40	chr13	102745579	.	T	G	1496.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2;DP=617;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.39;ReadPosRankSum=1.6;SOR=0.619	GT:AD:DP:GQ:PL	0/1:52,52:104:99:1507,0,1321	6	0	1	0
chr13	102868194	102868194	T	A	exonic	BIVM-ERCC5;ERCC5	.	nonsynonymous SNV	ERCC5:NM_000123:exon12:c.T2615A:p.V872E,BIVM-ERCC5:NM_001204425:exon20:c.T3977A:p.V1326E	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.736	0.316250005973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.995	0.67487	D	0.906	0.64351	P	0.000000	0.84330	D	0.000000	1	0.81001	D	3.61	0.93830	H	0.02	0.62318	T	-5.14	0.89211	D	0.839	0.83473	0.241	0.86596	D	0.511	0.81647	D	10	0.8599408	0.85208	D	0.31625	0.91337	D	0.736	0.90808	0.476	0.55342	0.922330987824	0.92154	0.6384009344693482	0.63774	0.657340301731	0.58692	.	.	.	0.539495	0.84207	D	0.507169	0.94487	D	0.490736	0.94408	D	0.997006092637574	0.90554	D	0.908809	0.89831	D	0.9497967	0.96245	0.86715305	0.92670	0.9497967	0.96245	0.86715305	0.92670	-17.145	0.99029	D	.	.	0.976	0.90627	P	.;.;.;.;.	.;.;.;.;.	4.598787	0.72809	25.9	0.99139512161291166	0.53491	0.98738	0.86220	D	AEFBI	0.900283	0.84562	D	0.839204774371765	0.88485	9.596168	0.763306504879115	0.87148	9.123182	0.999999999997746	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.02	5.02	0.66742	7.924000	0.86974	7.791000	0.68894	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.0:0.0:1.0	14.743	0.69089	921	0.19240	Helix-hairpin-helix motif, class 2;Helix-hairpin-helix motif, class 2;.;Helix-hairpin-helix motif, class 2;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	425.27	33	chr13	102868194	.	T	A	425.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.89;DP=208;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.19;ReadPosRankSum=-0.541;SOR=0.904	GT:AD:DP:GQ:PL	0/1:19,19:38:99:435,0,370	5	0	1	1
chr13	114287456	114287456	T	G	exonic	UPF3A	.	nonsynonymous SNV	UPF3A:NM_001353651:exon5:c.T676G:p.W226G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.361e-06	0	0	.	0	0	.	.	.	0	.	0	.	.	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	70.83	1	chr13	114287456	.	T	G	70.83	.	AC=1;AF=0.1;AN=10;BaseQRankSum=0;DP=11;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=17.71;ReadPosRankSum=0;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:2,2:4:78:0|1:114287456_T_G:78,0,78:114287456	4	0	1	2
chr13	114287457	114287457	G	T	exonic	UPF3A	.	nonsynonymous SNV	UPF3A:NM_001353651:exon5:c.G677T:p.W226L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	70.83	1	chr13	114287457	.	G	T	70.83	.	AC=1;AF=0.1;AN=10;BaseQRankSum=0;DP=11;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=17.71;ReadPosRankSum=0;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:2,2:4:78:0|1:114287456_T_G:78,0,78:114287456	4	0	1	2
chr14	20034347	20034347	G	C	exonic	OR4K13	.	nonsynonymous SNV	OR4K13:NM_001004714:exon1:c.C412G:p.P138A	.	433	1044	44	1	0	46	0.0215558	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	.	0.0065	0.00579073	0.0088	0.0016	0.0059	0.0001	0.0089	0.0098	0.0088	0.0158	0.0083375	1289	154602	rs140037435	0.0074	0.0074	0.0070	0.0079	0.0246	0.0073	0.0073	0.0213	0.0201	0.0021	0.0059	0.0075	5.038e-05	0.0093	0.0246	0.0070	0.0077	0.0169	0.0065	0.0065	0.0060	0.0071	0.0131	0.0062	0.0061	0.0105	0.0096	0.0025	0	0.0077	0.0086	0	0.0101	0.0136	0.0080	0.0123	0.0131	0.506	0.07594	T	0.499	0.11227	T	0.001	0.07471	B	0.002	0.06944	B	0.213433	0.16310	U	0.445574	1	0.08975	N	2.51	0.73131	M	6.89	0.00474	T	0.37	0.03639	N	0.113	0.10056	-0.9297	0.44183	T	0.001	0.00467	T	10	0.005253941	0.00115	T	.	.	.	0.099	0.28413	.	.	0.466398759226	0.46266	0.09936842455482309	0.09867	0.0317747987355	0.03293	0.166529595852	0.00021	T	0.001681	0.01111	T	-0.621796	0.00107	T	-0.652317	0.08793	T	0.0113371803637355	0.00168	T	0.138286	0.01102	T	0.06394648	0.13516	0.07882559	0.17691	0.06394648	0.13515	0.07882559	0.17691	-5.663	0.43363	T	.	.	0.119	0.24430	B	.;.;.	.;.;.	1.520134	0.19514	14.30	0.44548566857249378	0.03433	0.09521	0.15258	N	AEFGBI	0.067679	0.13317	N	-0.719005020069141	0.15489	0.7809694	-0.776225956251915	0.15079	0.7912289	9.31567096996979E-5	0.04910	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.6	3.6	0.40374	-0.048000	0.11898	-2.441000	0.03750	0.664000	0.56970	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.0:0.7917:0.2083	9.683	0.39245	988	0.01987	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.019657	0.015152	0.019022	0.020468	0.000000	0.017241	0.024540	0.018939	0.1429	1002.24	33	chr14	20034347	.	G	C	1002.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.377;DP=270;ExcessHet=0.3476;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=12.08;ReadPosRankSum=-0.524;SOR=0.739	GT:AD:DP:GQ:PL	0/1:39,39:78:99:913,0,901	5	0	2	0
chr14	20060399	20060399	G	A	exonic	OR4L1	.	nonsynonymous SNV	OR4L1:NM_001004717:exon1:c.G355A:p.A119T	.	433	1043	44	2	0	48	0.022493	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.286	.	0.0063	0.00479233	0.0089	0.0006	0.0059	0.0001	0.0089	0.0100	0.0079	0.0178	0.0082729	1279	154602	rs143026565	0.0075	0.0075	0.0070	0.0079	0.0254	0.0073	0.0073	0.0220	0.0208	0.0010	0.0059	0.0076	5.042e-05	0.0094	0.0254	0.0071	0.0076	0.0171	0.0062	0.0062	0.0056	0.0068	0.0129	0.0059	0.0057	0.0103	0.0094	0.0013	0	0.0075	0.0087	0	0.0102	0.0170	0.0080	0.0114	0.0129	0.0	0.91255	D	0.006	0.70582	D	0.999	0.77913	D	0.94	0.67560	D	0.000035	0.55875	D	0.000000	0.881307	0.35757	D	3.945	0.96414	H	0.59	0.53943	T	-3.4	0.67014	D	0.39	0.43126	0.111	0.84372	D	0.360	0.72186	T	10	0.008559376	0.00194	T	.	.	.	0.286	0.60456	.	.	0.837606238042	0.83606	0.14664065391702064	0.14586	0.0716432769509	0.08030	0.28809428215	0.08645	T	0.011748	0.10435	T	-0.238466	0.15545	T	-0.101036	0.63319	T	0.0508499382368578	0.05649	T	0.849215	0.53152	T	0.8905497	0.90554	0.832073	0.90320	0.8905497	0.90555	0.832073	0.90321	-9.221	0.69108	D	.	.	0.261	0.49586	B	.	.	4.345858	0.66707	25.0	0.99896933638575758	0.96971	0.97189	0.73214	D	AEFI	0.413116	0.48292	N	0.788998937138589	0.85411	8.568299	0.632162746140439	0.77289	6.650622	0.0929723915690901	0.16171	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.18	4.18	0.48473	3.537000	0.53345	7.771000	0.68472	0.653000	0.53440	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.7905:0.2095	9.570	0.38589	988	0.01987	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.017623	0.010101	0.014946	0.023392	0.000000	0.008621	0.027439	0.018939	0.2143	752.1	64	chr14	20060399	.	G	A	752.1	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-0.328;DP=443;ExcessHet=0;FS=0.942;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=11.57;ReadPosRankSum=-3.011;SOR=0.667	GT:AD:DP:GQ:PL	0/1:36,26:62:99:684,0,973	5	1	1	0
chr14	20747837	20747837	G	A	exonic	EDDM3A	.	nonsynonymous SNV	EDDM3A:NM_006683:exon2:c.G257A:p.S86N	.	.	.	.	.	.	.	.	.	.	.	2714571	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.054	0.00245575216734	.	.	8.243e-06	0	0	0	0	1.499e-05	0	0	1.29e-05	2	154602	rs532594291	1.984e-05	2.052e-05	2.45e-05	1.513e-05	2.608e-05	1.392e-05	1.203e-05	1.83e-05	1.582e-05	0	0	0	0	0	0	2.608e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.334	0.12961	T	0.522	0.10391	T	0.001	0.07471	B	0.001	0.04355	B	0.423104	0.04660	N	1.378240	1	0.08975	N	0.405	0.12330	N	0.94	0.43672	T	1.0	0.01408	N	0.028	0.00618	-1.0510	0.14119	T	0.073	0.29675	T	10	0.028373152	0.00970	T	0.002456	0.04840	T	0.054	0.15330	0.147	0.05039	0.194818534648	0.19098	0.10616492581970637	0.10546	0.036009807883	0.03802	0.300982058048	0.10548	T	0.001993	0.01403	T	-0.476151	0.00779	T	-0.814078	0.01576	T	0.0474835187196732	0.05051	T	0.264674	0.04299	T	0.030141084	0.02626	0.05337572	0.08979	0.030141084	0.02625	0.05337572	0.08978	-3.531	0.16869	T	.	.	0.065	0.01834	B	.	.	0.351038	0.07241	3.840	0.94416396250383516	0.24819	0.00498	0.02351	N	AEFBI	0.018529	0.00569	N	-1.17509415503401	0.05378	0.2450481	-1.26639008852798	0.04893	0.2318861	0.697169479521736	0.22654	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	1.9	-1.21	0.09033	-0.479000	0.06647	1.884000	0.29472	0.373000	0.20310	0.010000	0.18352	0.941000	0.28781	0.823000	0.38780	0.487:0.0:0.513:0.0	5.105	0.14111	779	0.47767	Ribonuclease A-domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	50.74	36	chr14	20747837	.	G	A	50.74	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-1.407;DP=382;ExcessHet=0.4139;FS=172.31;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=0.36;ReadPosRankSum=0.171;SOR=7.742	GT:AD:DP:GQ:PL	0/1:20,9:29:51:51,0,439	4	0	2	1
chr14	23378482	23378482	G	A	exonic	CMTM5	.	nonsynonymous SNV	CMTM5:NM_001037288:exon2:c.G260A:p.R87Q,CMTM5:NM_001288746:exon2:c.G260A:p.R87Q,CMTM5:NM_138460:exon2:c.G260A:p.R87Q	.	419	1102	1	0	0	1	0.000453515	.	.	.	3305132	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.118	0.0213839303923	0.0002	.	9.061e-05	0	0.0002	0	0	0.0001	0	0	7.12e-05	11	154602	rs139744261	4.994e-05	4.994e-05	5.173e-05	4.813e-05	6.709e-05	4.059e-05	3.734e-05	1.779e-05	1.15e-05	2.987e-05	6.709e-05	0.0013	0	0	0	2.068e-05	0.0001	2.319e-05	4.602e-05	4.596e-05	5.139e-05	4.039e-05	6.547e-05	2.11e-05	1.528e-05	.	.	0	0	6.547e-05	0.0012	0	0	0	1.47e-05	0.0005	0	0.103	0.34444	T	0.128	0.92824	T	1.0	0.90584	D	0.91	0.64641	D	0.008453	0.30835	N	0.226724	1	0.81001	D	1.01	0.25309	L	1.76	0.44461	T	-1.28	0.33598	N	0.324	0.36464	-0.9039	0.47572	T	0.148	0.47362	T	10	0.038475484	0.02268	T	0.021384	0.44151	T	0.118	0.32913	.	.	0.638873723364	0.63589	0.4278030796054202	0.42697	0.182628553188	0.20529	0.374113380909	0.21419	T	0.013175	0.11445	T	-0.25075	0.14005	T	-0.422114	0.30832	T	0.231551021337509	0.22025	T	0.79842	0.45334	T	0.077549934	0.17607	0.09496661	0.22503	0.077549934	0.17607	0.09496661	0.22502	-2.709	0.38728	T	.	.	0.086	0.38587	B	.;.;.;.;.	.;.;.;.;.	3.996810	0.58859	24.0	0.99896961888383151	0.96971	0.31854	0.24441	N	AEFGBI	0.215471	0.34083	N	-0.249223380063814	0.31133	1.742782	-0.195149752338082	0.31715	1.797418	0.999874947614461	0.44625	0.549168	0.22868	0	0.59043	0.45803	0	0.590023	0.30420	0	0.542086	0.14980	0	.	.	5.94	5.05	0.67566	1.947000	0.39919	5.081000	0.47267	0.676000	0.76740	0.132000	0.23378	0.998000	0.33993	0.540000	0.29938	0.0804:0.1529:0.7667:0.0	8.576	0.32761	372	0.84213	.;.;Marvel domain|Marvel domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1534.44	34	chr14	23378482	.	G	A	1534.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.53;DP=322;ExcessHet=0;FS=3.089;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.28;ReadPosRankSum=-0.299;SOR=0.981	GT:AD:DP:GQ:PL	0/1:71,65:136:99:1545,0,1583	6	0	1	0
chr14	24300437	24300437	G	C	exonic	NOP9	.	nonsynonymous SNV	NOP9:NM_001286367:exon2:c.G277C:p.V93L,NOP9:NM_174913:exon2:c.G277C:p.V93L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.00576105487957	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0050	0.0003	0.0003	0.0004	0.0003	0.0003	0.0004	0.0003	0.0002	2.243e-05	0.0001	0	0	0.0002	0.0004	0.0003	7.042e-05	1.319e-05	5.919e-05	1.29e-05	1.35e-05	0.0002	2.19e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.474e-05	0	0.0002	0.197	0.23183	T	0.214	0.26386	T	0.008	0.14655	B	0.009	0.14300	B	0.000069	0.52346	D	0.072968	0.996321	0.43140	D	2.585	0.75554	M	2.67	0.12473	T	-0.93	0.24898	N	0.223	0.25006	-1.0617	0.11336	T	0.026	0.11220	T	10	0.2473082	0.42010	T	0.005761	0.14952	T	0.054	0.15330	0.682	0.81982	0.280181792013	0.27631	0.43155452972977676	0.43072	0.241845707043	0.26701	0.518697142601	0.41442	T	0.026513	0.19606	T	-0.1628	0.26331	T	-0.471627	0.25341	T	0.867119252681732	0.51714	D	.	.	.	0.2700367	0.50075	0.25238276	0.50866	0.2700367	0.50075	0.25238276	0.50865	-4.398	0.29530	T	.	.	0.406	0.62127	A	.;.	.;.	3.392337	0.46977	22.4	0.98957409412611974	0.49266	0.70411	0.34579	D	AEFDGBHCI	0.404589	0.47781	N	-0.158710929101413	0.34866	1.995547	0.0346132377272474	0.41334	2.481569	0.99999908900984	0.74766	0.766844	0.99359	0	0.672317	0.65289	0	0.851219	0.99655	0	0.638787	0.57140	0	.	.	5.05	4.09	0.47038	3.594000	0.53755	8.281000	0.76903	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.8459:0.1541	14.766	0.69261	867	0.32089	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	491.91	45	chr14	24300437	.	G	C	491.91	.	AC=2;AF=0.2;AN=10;BaseQRankSum=-3.856;DP=547;ExcessHet=0.3476;FS=538.551;MLEAC=2;MLEAF=0.2;MQ=60;MQRankSum=0;QD=2.72;ReadPosRankSum=0.972;SOR=8.813	GT:AD:DP:GQ:PL	0/1:37,16:53:58:58,0,969	3	0	2	2
chr14	44504921	44504956	CTCCTCAGCTGGTAGAGACTGAACTTCAGCAGGGGC	-	exonic	FSCB	.	nonframeshift deletion	FSCB:NM_032135:exon1:c.2032_2067del:p.A678_E689del	.	.	.	.	.	.	.	.	.	.	.	702872	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0205	.	.	.	.	.	.	.	.	.	0.0003074	8	26028	rs866319674	0.0003	0.0004	0.0004	0.0003	0.0106	0.0003	0.0003	0.0097	0.0093	0.0106	0.0010	0	0	0	0.0013	2.068e-05	0.0007	2.32e-05	0.0061	0.0082	0.0063	0.0059	0.0215	0.0058	0.0056	0.0203	0.0198	0.0215	0	0.0020	0	0	0	0.0103	8.844e-05	0.0048	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	460.42	33	chr14	44504920	.	TCTCCTCAGCTGGTAGAGACTGAACTTCAGCAGGGGC	T	460.42	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.581;DP=273;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=57.88;MQRankSum=-0.552;QD=19.18;ReadPosRankSum=0.431;SOR=1.022	GT:AD:DP:GQ:PL	0/1:12,12:24:99:471,0,456	6	0	1	0
chr14	45227710	45227710	C	T	exonic	MIS18BP1	.	nonsynonymous SNV	MIS18BP1:NM_018353:exon9:c.G1699A:p.V567I	.	.	.	.	.	.	.	.	.	.	.	702882	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.034	.	0.0079	0.00958466	0.0024	0.0255	0.0013	0.0003	0	7.496e-05	0	0	0.0023609	365	154602	rs111929061	0.0008	0.0008	0.0009	0.0007	0.0268	0.0008	0.0008	0.0254	0.0248	0.0268	0.0012	0	2.52e-05	0	0.0014	8.725e-05	0.0025	4.638e-05	0.0072	0.0073	0.0071	0.0073	0.0252	0.0069	0.0067	0.0239	0.0234	0.0252	0	0.0025	0	0.0002	0	0.0034	0.0001	0.0038	0.0002	1.0	0.00964	T	0.577	0.08594	T	0.0	0.02946	B	0.0	0.01387	B	0.112972	0.19335	N	0.493308	1	0.08975	N	-0.49	0.02651	N	2.3	0.16953	T	0.1	0.05810	N	0.055	0.02658	-0.9644	0.38330	T	0.006	0.01981	T	10	0.001985699	0.00028	T	.	.	.	0.034	0.08419	.	.	0.202086224978	0.19791	0.04965448061400526	0.04908	0.022609469708	0.02283	0.418821334839	0.27675	T	4.97E-4	0.00182	T	-0.747904	0.00018	T	-0.826816	0.01320	T	0.000577248172178839	0.00005	T	0.20398	0.02363	T	0.012607254	0.00037	0.019322114	0.00085	0.012607254	0.00037	0.019322114	0.00085	-2.996	0.10138	T	.	.	0.066	0.02313	B	.	.	0.071224	0.04796	1.407	0.085720062766467001	0.00070	0.00292	0.01564	N	AEFDBI	0.007340	0.00026	N	-1.35239241074769	0.03100	0.1379498	-1.25866337152181	0.05004	0.2374274	0.410842683472393	0.20210	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.08	0.951	0.18703	-0.083000	0.11250	0.552000	0.19430	-0.189000	0.09497	0.458000	0.26628	0.023000	0.20922	0.694000	0.33958	0.0:0.22:0.2983:0.4817	3.764	0.08136	792	0.45996	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001007	0.005051	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	1150.44	36	chr14	45227710	.	C	T	1150.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.674;DP=304;ExcessHet=0;FS=2.671;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.11;ReadPosRankSum=0.123;SOR=0.907	GT:AD:DP:GQ:PL	0/1:43,52:95:99:1161,0,975	6	0	1	0
chr14	45231149	45231149	T	C	exonic	MIS18BP1	.	nonsynonymous SNV	MIS18BP1:NM_018353:exon8:c.A1586G:p.D529G	.	.	.	.	.	.	.	.	.	.	.	702883	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.015	.	0.0085	0.00958466	0.0025	0.0267	0.0016	0	0	7.515e-05	0.0011	0	0.0024773	383	154602	rs61741577	0.0009	0.0009	0.0010	0.0008	0.0285	0.0009	0.0008	0.0270	0.0264	0.0285	0.0015	0	0	0	0.0014	0.0001	0.0026	4.695e-05	0.0079	0.0079	0.0077	0.0081	0.0272	0.0075	0.0073	0.0259	0.0253	0.0272	0	0.0030	0	0	0	0.0034	0.0001	0.0052	0	0.171	0.22746	T	0.446	0.13103	T	0.002	0.09854	B	0.002	0.06944	B	0.559909	0.05419	N	1.236060	1	0.08975	N	1.5	0.37844	L	2.02	0.21119	T	-1.96	0.45404	N	0.145	0.14622	-0.9874	0.33249	T	0.019	0.08033	T	10	0.0038278103	0.00072	T	.	.	.	0.015	0.02232	.	.	0.112648838833	0.10856	0.20254179970289268	0.20171	0.0283514275094	0.02914	0.255592644215	0.04379	T	0.001292	0.00775	T	-0.66982	0.00055	T	-0.713297	0.05127	T	0.00210825369242755	0.00022	T	0.577942	0.20808	T	0.052042503	0.09648	0.04224135	0.04986	0.052042503	0.09648	0.04224135	0.04986	-3.725	0.19688	T	.	.	0.073	0.04681	B	.	.	1.877970	0.23857	16.18	0.89590005443234233	0.18928	0.04497	0.10117	N	AEFGBI	0.036454	0.04860	N	-1.08382220702043	0.06941	0.3209739	-1.12046862122153	0.07309	0.355066	0.00673922428047646	0.11294	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	5.04	-0.289	0.12214	-0.057000	0.11726	0.334000	0.17313	-0.178000	0.10482	0.000000	0.06391	0.775000	0.26732	0.004000	0.06068	0.0:0.3862:0.0:0.6138	7.816	0.28420	795	0.45444	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002518	0.005051	0.000000	0.011696	0.000000	0.000000	0.000000	0.000000	0.07143	505.45	28	chr14	45231149	.	T	C	505.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.746;DP=209;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.44;ReadPosRankSum=0.943;SOR=0.818	GT:AD:DP:GQ:PL	0/1:14,21:35:99:516,0,332	6	0	1	0
chr14	45246797	45246797	A	G	exonic	MIS18BP1	.	nonsynonymous SNV	MIS18BP1:NM_018353:exon2:c.T490C:p.C164R	.	.	.	.	.	.	.	.	.	.	.	702884	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.085	.	0.0080	0.00958466	0.0024	0.0258	0.0013	0	0	7.586e-05	0	0	0.002348	363	154602	rs1269008	0.0008	0.0008	0.0009	0.0007	0.0271	0.0007	0.0007	0.0255	0.0249	0.0271	0.0012	0	0	0	0.0014	8.875e-05	0.0022	5.013e-05	0.0073	0.0073	0.0072	0.0073	0.0253	0.0069	0.0068	0.0241	0.0236	0.0253	0	0.0025	0	0	0	0.0034	0.0001	0.0038	0	0.318	0.13654	T	0.483	0.63918	T	0.845	0.46707	P	0.39	0.44145	B	0.156590	0.17795	N	0.604547	0.949485	0.37654	D	2.565	0.75005	M	2.16	0.19166	T	-4.2	0.75695	D	0.553	0.57860	-1.0957	0.04653	T	0.026	0.11220	T	10	0.0058618784	0.00131	T	.	.	.	0.085	0.24743	.	.	0.407357902709	0.40350	0.22023252501859572	0.21939	0.184258357792	0.20723	0.546376347542	0.45346	T	0.009197	0.44639	T	-0.13266	0.31066	T	-0.428334	0.30124	T	0.0570865126872686	0.06702	T	0.630737	0.24588	T	0.24727306	0.47703	0.22154032	0.46968	0.24727306	0.47703	0.22154032	0.46967	-2.801	0.08193	T	.	.	0.177	0.45111	B	.;.	.;.	3.072056	0.41293	21.3	0.91430879617073157	0.20699	0.79149	0.39166	D	AEFDGBI	0.234680	0.35740	N	0.0684280317237546	0.44993	2.76352	0.0874399517937477	0.43914	2.68351	0.999995617460525	0.74766	0.736574	0.97449	0	0.672317	0.65289	0	0.732669	0.93749	0	0.645665	0.59343	0	.	.	5.35	2.79	0.31792	2.516000	0.45181	7.382000	0.58460	-0.095000	0.16041	0.970000	0.34288	1.000000	0.68203	0.955000	0.50612	0.6521:0.1776:0.0:0.1703	5.690	0.17099	780	0.47616	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001007	0.005051	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	574.44	33	chr14	45246797	.	A	G	574.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.803;DP=239;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.84;ReadPosRankSum=-0.303;SOR=0.76	GT:AD:DP:GQ:PL	0/1:26,27:53:99:585,0,649	6	0	1	0
chr14	49586032	49586032	C	T	exonic	RPS29	.	nonsynonymous SNV	RPS29:NM_001030001:exon2:c.G80A:p.R27Q,RPS29:NM_001032:exon2:c.G80A:p.R27Q,RPS29:NM_001351375:exon2:c.G71A:p.R24Q	Diamond-Blackfan anemia 13, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.174	0.103728851759	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.848e-07	6.841e-07	0	1.377e-06	9e-07	0	0	.	.	0	0	0	0	0	0	9e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.485	0.08115	T	0.495	0.15355	T	0.003	0.11197	B	0.006	0.12133	B	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	.	.	.	-1.09	0.32590	N	0.78	0.79118	-0.9797	0.35071	T	0.123	0.42589	T	8	0.3362448	0.50768	T	0.103729	0.77792	D	0.174	0.44019	0.42	0.46200	0.227934060464	0.22382	0.8578765483497026	0.85750	1.42041158523	0.85606	0.835893034935	0.87468	D	0.426055	0.77597	T	0.188761	0.72849	D	0.0333663	0.72496	D	0.981718182563782	0.74070	D	0.80142	0.46084	T	0.6506185	0.75397	0.4888436	0.70423	0.6506185	0.75398	0.4888436	0.70423	-7.582	0.63377	D	0.09475712425302887	0.06377	0.237	0.64062	B	.;.;.;.;.;.	.;.;.;.;.;.	4.711783	0.75700	26.4	0.99759148360519512	0.84931	0.72858	0.35649	D	ALL	0.870239	0.79113	D	0.0403471399827219	0.43701	2.657809	0.25238241552367	0.52785	3.451043	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	6.06	6.06	0.98340	7.404000	0.79226	7.548000	0.60216	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.967000	0.53440	0.0:1.0:0.0:0.0	19.185	0.93625	802	0.44336	.;Ribosomal protein S14, conserved site;Ribosomal protein S14, conserved site;Ribosomal protein S14, conserved site;Ribosomal protein S14, conserved site;Ribosomal protein S14, conserved site	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	39.83	109	chr14	49586032	.	C	T	39.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.83;DP=373;ExcessHet=0;FS=79.764;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=0.7;ReadPosRankSum=1.67;SOR=6.357	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:47,10:57:50:0|1:49586032_C_T:50,0,1025:49586032	6	0	1	0
chr14	58213644	58213644	T	C	exonic	ACTR10	.	nonsynonymous SNV	ACTR10:NM_018477:exon6:c.T464C:p.I155T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.324	0.0362747916202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0026	0.0003	0.0002	0.0003	0.0002	0.0002	0.0003	0.0003	0.0002	0	8.123e-05	7.948e-05	1.955e-05	0	0.0003	0.0002	7.24e-05	6.639e-06	2.641e-05	0	1.359e-05	1.482e-05	0	0	.	.	0	0	0	0	0	0	0	1.482e-05	0	0	0.35	0.12305	T	0.45	0.12957	T	0.0	0.02946	B	0.001	0.04355	B	0.000051	0.53742	D	0.197305	0.974077	0.39075	D	0.06	0.08197	N	-3.44	0.94428	D	-1.31	0.32791	N	0.456	0.49328	0.114	0.84424	D	0.666	0.88403	D	10	0.36079857	0.52715	T	0.036275	0.56887	D	0.324	0.64624	0.434	0.48500	0.993195394259	0.99311	0.5930593215126997	0.59235	0.374889918543	0.38946	0.782578408718	0.79317	T	0.399172	0.75708	T	0.0213512	0.54564	T	-0.207107	0.53971	T	0.59854531288147	0.36343	D	0.833317	0.50212	T	0.060931925	0.12560	0.09373129	0.22154	0.060931925	0.12560	0.09373129	0.22154	-5.421	0.41121	T	.	.	0.486	0.63951	A	.	.	3.186553	0.43278	21.7	0.8580340382623457	0.16122	0.91508	0.53678	D	AEFBI	0.213280	0.33888	N	-0.111420387238393	0.36894	2.138883	0.0755270437198708	0.43321	2.636326	0.9557581108309	0.28208	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.8	5.8	0.92081	4.582000	0.60668	7.707000	0.66598	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.500000	0.29017	0.0:0.0786:0.0:0.9214	9.930	0.40688	881	0.29269	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	137.24	17	chr14	58213644	.	T	C	137.24	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-2.517;DP=189;ExcessHet=1.383;FS=173.983;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=1.23;ReadPosRankSum=2.35;SOR=7.378	GT:AD:DP:GQ:PL	0/1:20,9:29:7:7,0,397	3	0	3	1
chr14	58402695	58402695	A	G	exonic	TOMM20L	.	nonsynonymous SNV	TOMM20L:NM_207377:exon3:c.A196G:p.K66E	.	434	1087	1	0	0	1	0.00045977	.	.	.	2695229	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.068	0.00298590272316	0.0002	.	0.0002	0.0002	0.0007	0	0	0.0002	0	0	0.0001811	28	154602	rs145388081	0.0002	0.0002	0.0002	0.0002	0.0005	0.0002	0.0002	0.0004	0.0003	0	0.0005	0	0	0	0	0.0002	0.0001	0	0.0002	0.0002	0.0002	0.0001	0.0004	0.0001	0.0001	0.0002	0.0002	2.412e-05	0	0.0003	0	0	0	0	0.0004	0	0	0.045	0.40832	D	0.226	0.25438	T	0.126	0.26920	B	0.138	0.33406	B	0.496464	0.05066	N	1.290410	1	0.08975	N	1.87	0.49600	L	1.05	0.39990	T	0.8	0.01866	N	0.203	0.22486	-0.9541	0.40256	T	0.114	0.40490	T	10	0.049021184	0.04432	T	0.002986	0.06369	T	0.068	0.19811	.	.	0.0138822411134	0.00435	0.06089445402709528	0.06029	0.877289974336	0.69629	0.433126598597	0.29636	T	0.016125	0.13389	T	-0.436865	0.01349	T	-0.54723	0.17593	T	0.00963409217592302	0.00125	T	0.463154	0.13467	T	0.1486996	0.33935	0.14366305	0.34135	0.1486996	0.33935	0.14366305	0.34134	-1.959	0.03030	T	.	.	0.086	0.10545	B	.	.	1.608726	0.20559	14.80	0.96994466962986958	0.31916	0.45471	0.27546	N	AEFI	0.121643	0.23641	N	-0.494275759431745	0.22268	1.187814	-0.523955312080627	0.21504	1.163569	0.0470786755639618	0.14716	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	4.77	0.797	0.17797	0.619000	0.24083	4.702000	0.44414	0.691000	0.84096	0.526000	0.27158	0.819000	0.27109	0.961000	0.51904	0.4122:0.3357:0.0902:0.1619	1.910	0.03085	895	0.25842	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	422.46	20	chr14	58402695	.	A	G	422.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.945;DP=198;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.74;ReadPosRankSum=0.444;SOR=0.693	GT:AD:DP:GQ:PL	0/1:18,18:36:99:433,0,399	6	0	1	0
chr14	63599753	63599753	G	A	exonic	WDR89	.	stopgain	WDR89:NM_001258272:exon3:c.C190T:p.R64X,WDR89:NM_080666:exon3:c.C190T:p.R64X,WDR89:NM_001008726:exon4:c.C190T:p.R64X,WDR89:NM_001382423:exon4:c.C190T:p.R64X,WDR89:NM_001382424:exon4:c.C190T:p.R64X,WDR89:NM_001382425:exon4:c.C190T:p.R64X,WDR89:NM_001382426:exon4:c.C190T:p.R64X,WDR89:NM_001382427:exon4:c.C190T:p.R64X,WDR89:NM_001382428:exon5:c.C190T:p.R64X,WDR89:NM_001382429:exon5:c.C190T:p.R64X	.	430	1077	15	0	0	15	0.00691563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.655e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs200681506	8.895e-06	3.831e-05	1.225e-05	5.502e-06	2.319e-05	4.96e-06	3.83e-06	3.85e-06	1.44e-06	0	0	0	0	0	0	5.396e-06	8.281e-05	2.319e-05	0.0002	0.0074	0.0002	0.0003	0.0004	0.0002	0.0001	0.0002	0.0001	0.0003	0	0.0004	0	0	0.0003	0	0.0001	0.0015	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	0.000463	0.44119	D	0.194702	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.144	0.27435	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.481121	0.93742	D	0.634849	0.97827	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.;Recessive;.	High;.;High;.	7.339368	0.96413	36	0.99756467363359924	0.84694	0.94639	0.61825	D	AEFGBI	0.098617	0.19868	N	0.909272293390907	0.92206	11.29225	0.757728745137247	0.86734	8.984897	0.999972014400061	0.50053	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.683762	0.67416	0	.	.	5.63	4.69	0.58546	2.909000	0.48456	5.651000	0.49183	-0.680000	0.04236	1.000000	0.71638	0.992000	0.31684	0.036000	0.13842	0.0:0.0:0.8692:0.1308	16.526	0.84179	854	0.34840	WD40-repeat-containing domain;WD40-repeat-containing domain;WD40-repeat-containing domain;WD40-repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	60.44	34	chr14	63599753	.	G	A	60.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.09;DP=293;ExcessHet=0;FS=1.718;MLEAC=1;MLEAF=0.071;MQ=58.81;MQRankSum=-7.268;QD=0.92;ReadPosRankSum=0.209;SOR=1.329	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:60,6:66:71:0|1:63599753_G_A:71,0,2497:63599753	6	0	1	0
chr14	63599773	63599773	T	C	exonic	WDR89	.	nonsynonymous SNV	WDR89:NM_001258272:exon3:c.A170G:p.K57R,WDR89:NM_080666:exon3:c.A170G:p.K57R,WDR89:NM_001008726:exon4:c.A170G:p.K57R,WDR89:NM_001382423:exon4:c.A170G:p.K57R,WDR89:NM_001382424:exon4:c.A170G:p.K57R,WDR89:NM_001382425:exon4:c.A170G:p.K57R,WDR89:NM_001382426:exon4:c.A170G:p.K57R,WDR89:NM_001382427:exon4:c.A170G:p.K57R,WDR89:NM_001382428:exon5:c.A170G:p.K57R,WDR89:NM_001382429:exon5:c.A170G:p.K57R	.	431	1085	6	0	0	6	0.00275735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.00510807500172	.	.	.	.	.	.	.	.	.	.	.	.	.	rs901666396	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	2.002e-05	0.0027	2.605e-05	1.368e-05	6.652e-05	5.32e-06	2.48e-06	.	.	2.461e-05	0	6.652e-05	0	0	9.59e-05	0	0	0	0	0.517	0.07330	T	0.721	0.05327	T	0.034	0.20480	B	0.01	0.14941	B	0.000180	0.48594	D	0.205247	0.703363	0.30082	N	2.155	0.60227	M	-0.15	0.65192	T	-0.35	0.12847	N	0.075	0.07262	-0.9571	0.39717	T	0.113	0.40307	T	10	0.12324116	0.23392	T	0.005108	0.12970	T	0.081	0.23632	0.535	0.64439	0.656961720716	0.65409	0.3911789445950797	0.39032	0.0940757242982	0.10619	0.339419215918	0.16351	T	0.023761	0.18078	T	-0.115425	0.33875	T	-0.403576	0.32968	T	0.191546842455864	0.19936	T	0.781422	0.41649	T	0.028487818	0.02194	0.034389522	0.02497	0.028487818	0.02194	0.034389522	0.02497	-3.76	0.20208	T	.	.	0.074	0.11317	B	.;.;.;.	.;.;.;.	1.968509	0.25009	16.61	0.87872483150214187	0.17544	0.82077	0.41361	D	AEFGBI	0.141147	0.26325	N	-0.238387938740899	0.31569	1.771506	-0.00565315919314946	0.39460	2.339944	0.999533698633903	0.40238	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.63	5.63	0.86108	1.604000	0.36415	4.239000	0.42696	-0.665000	0.04339	1.000000	0.71638	1.000000	0.68203	0.855000	0.40485	0.0:0.1114:0.0:0.8886	8.743	0.33732	854	0.34840	WD40-repeat-containing domain;WD40-repeat-containing domain;WD40-repeat-containing domain;WD40-repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	33.44	34	chr14	63599773	.	T	C	33.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.59;DP=285;ExcessHet=0;FS=4.501;MLEAC=1;MLEAF=0.071;MQ=58.97;MQRankSum=-7.644;QD=0.56;ReadPosRankSum=-2.06;SOR=1.972	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:55,5:60:44:0|1:63599766_C_T:44,0,2209:63599766	6	0	1	0
chr14	64522966	64522966	A	G	exonic	ZBTB1	.	nonsynonymous SNV	ZBTB1:NM_001123329:exon2:c.A1462G:p.M488V,ZBTB1:NM_014950:exon2:c.A1462G:p.M488V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	0.00337478355686	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	0.32929	T	0.823	0.21678	T	0.028	0.22112	B	0.006	0.17295	B	0.038901	0.24233	N	0.445390	0.733279	0.33742	D	0.695	0.17993	N	2.98	0.09356	T	0.18	0.06253	N	0.296	0.34120	-1.0249	0.22116	T	0.022	0.09513	T	10	0.11892995	0.22496	T	0.003375	0.07542	T	0.104	0.29647	0.283	0.23961	0.533189231367	0.52969	0.4607243487009907	0.45990	.	.	0.54474067688	0.45115	T	0.004107	0.03522	T	-0.0411078	0.45783	T	-0.296825	0.45059	T	0.857756912708282	0.50848	D	0.89941	0.64770	D	0.06971228	0.15296	0.09648442	0.22926	0.06971228	0.15295	0.09648442	0.22926	-3.062	0.10865	T	.	.	0.086	0.16626	B	.;.	.;.	2.351986	0.30154	18.35	0.94761002276769701	0.25472	0.98224	0.80693	D	AEGBI	0.681840	0.64506	D	-0.0391440844410332	0.40088	2.374863	0.188444805789952	0.49214	3.12725	0.999999992457274	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	6.03	6.03	0.97798	4.921000	0.63096	11.312000	0.92460	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	1.0:0.0:0.0:0.0	15.129	0.72184	353	0.85335	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	837.49	35	chr14	64522966	.	A	G	837.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.129;DP=288;ExcessHet=0;FS=2.952;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.21;ReadPosRankSum=1;SOR=0.48	GT:AD:DP:GQ:PL	0/1:41,41:82:99:848,0,909	6	0	1	0
chr14	69209598	69209598	C	T	exonic	EXD2	.	nonsynonymous SNV	EXD2:NM_001193361:exon2:c.C128T:p.P43L,EXD2:NM_001193363:exon2:c.C128T:p.P43L,EXD2:NM_001193360:exon3:c.C128T:p.P43L,EXD2:NM_001193362:exon3:c.C128T:p.P43L	.	436	1076	10	0	0	10	0.00462535	.	.	.	2275994	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.072	0.0094930447176	.	.	6.05e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs752389207	9.654e-05	9.235e-05	9.596e-05	9.715e-05	0.0023	8.319e-05	7.769e-05	0.0013	0.0011	3.165e-05	0.0015	0	0	0	0.0023	3.707e-05	0.0003	0.0001	6.575e-05	6.567e-05	8.996e-05	4.039e-05	0.0003	3.519e-05	2.618e-05	0.0001	8.299e-05	2.415e-05	0	0.0003	0	0	0	0	5.881e-05	0	0	0.142	0.25457	T	0.336	0.18232	T	.	.	.	.	.	.	.	.	.	.	0.999993	0.08975	N	1.61	0.41143	L	-0.91	0.75001	T	-0.48	0.15379	N	0.094	0.07398	-1.0010	0.29631	T	0.158	0.49161	T	9	0.018281192	0.00396	T	0.009493	0.24855	T	0.072	0.21020	.	.	0.230578612272	0.22657	0.20792532397666824	0.20708	0.157749596145	0.17814	0.216754704714	0.01131	T	0.007317	0.06733	T	-0.499425	0.00576	T	-0.525544	0.19735	T	0.00205012292896989	0.00021	T	0.548145	0.18826	T	0.021765577	0.00797	0.022354342	0.00262	0.021765577	0.00797	0.022354342	0.00262	-3.387	0.14882	T	.	.	0.074	0.05017	B	.;.	.;.	-0.334824	0.02468	0.285	0.58285173748377239	0.05958	0.01800	0.05617	N	AEFGBI	0.033934	0.04114	N	-1.45190806788078	0.02202	0.09695731	-1.52888029519639	0.02125	0.09725158	0.978065255339809	0.29883	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.613276	0.41899	0	.	.	4.9	-6.18	0.01906	-1.773000	0.01883	0.211000	0.15962	-0.136000	0.12710	0.000000	0.06391	0.000000	0.08366	0.037000	0.13953	0.2605:0.4907:0.1567:0.0921	4.093	0.09451	865	0.32612	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	749.63	33	chr14	69209598	.	C	T	749.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.755;DP=240;ExcessHet=0;FS=0.971;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.9;ReadPosRankSum=0.16;SOR=0.507	GT:AD:DP:GQ:PL	0/1:27,36:63:99:760,0,650	6	0	1	0
chr14	70459123	70459123	C	T	exonic	ADAM21	.	nonsynonymous SNV	ADAM21:NM_003813:exon2:c.C1624T:p.H542Y	.	439	1074	9	0	0	9	0.00417246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.170	0.00658284890745	0.0005	.	0.0013	0	0.0004	0	0	0.0012	0	0.0040	4.53e-05	7	154602	rs141458690	0.0008	0.0008	0.0007	0.0009	0.0069	0.0008	0.0007	0.0052	0.0046	2.994e-05	0.0002	0.0140	0	0	0.0069	0.0003	0.0019	0.0034	0.0008	0.0007	0.0007	0.0008	0.0040	0.0006	0.0006	0.0026	0.0022	2.417e-05	0	0.0003	0.0127	0	0	0.0034	0.0006	0.0014	0.0040	.	.	.	0.007	0.69154	D	0.221	0.30336	B	0.403	0.44588	B	0.017934	0.27603	U	0.166361	0.890572	0.27889	N	2.42	0.70002	M	2.02	0.21119	T	.	.	.	0.348	0.38950	-1.0524	0.13736	T	0.054	0.22921	T	10	0.018537134	0.00404	T	0.006583	0.17358	T	.	.	.	.	0.333906830038	0.33007	0.8016358501670688	0.80117	1.29796164902	0.82946	0.441291153431	0.30754	T	0.263847	0.63557	T	-0.418588	0.01747	T	-0.374887	0.36320	T	0.0693551707666258	0.08560	T	0.934007	0.75281	D	0.36101165	0.57913	0.37836766	0.62916	0.36101165	0.57913	0.37836766	0.62916	-4.615	0.32360	T	.	.	0.138	0.30211	B	.	.	2.710999	0.35433	19.90	0.99694117526092674	0.80180	0.62641	0.31843	D	AEFDGBI	0.167800	0.29451	N	0.0442647284691094	0.43878	2.672324	0.125574187106334	0.45861	2.841877	0.102378308915714	0.16413	0.516011	0.20929	0	0.610034	0.51514	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	4.36	3.39	0.37919	1.650000	0.36908	-0.019000	0.12951	0.436000	0.21017	0.885000	0.31090	0.001000	0.17328	0.983000	0.59808	0.2957:0.601:0.0:0.1033	5.543	0.16336	738	0.53389	ADAM, cysteine-rich|ADAM, cysteine-rich	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003205	0.000000	0.008152	0.008264	0.000000	0.000000	0.000000	0.000000	0.07143	308.53	35	chr14	70459123	.	C	T	308.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.84;DP=261;ExcessHet=0;FS=2.71;MLEAC=1;MLEAF=0.071;MQ=44.15;MQRankSum=-2.572;QD=5.14;ReadPosRankSum=-1.965;SOR=1.154	GT:AD:DP:GQ:PL	0/1:47,13:60:99:319,0,1268	6	0	1	0
chr14	73251775	73251775	G	A	exonic	PAPLN	.	nonsynonymous SNV	PAPLN:NM_001365907:exon8:c.G782A:p.G261E,PAPLN:NM_173462:exon8:c.G701A:p.G234E,PAPLN:NM_001365906:exon9:c.G782A:p.G261E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.592	0.0733793491446	.	.	.	.	.	.	.	.	.	.	0.0001921	5	26028	rs1433536565	1.302e-05	1.3e-05	9.549e-06	1.654e-05	0.0002	8.33e-06	6.71e-06	5.76e-06	4.55e-06	0	2.271e-05	0	0	0	0.0002	1.08e-05	4.977e-05	2.325e-05	1.314e-05	1.313e-05	1.284e-05	1.345e-05	1.47e-05	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0.0005	0	0.007	0.61437	D	0.002	0.79402	D	1.0	0.90584	D	0.998	0.88582	D	.	.	.	.	0.999898	0.50595	D	2.185	0.61350	M	-0.06	0.63568	T	-7.02	0.93786	D	0.675	0.68690	-0.2123	0.77353	T	0.391	0.74539	T	9	0.8815023	0.87462	D	0.073379	0.71774	D	0.592	0.83747	.	.	0.643794017197	0.64084	0.5989917592201827	0.59830	0.852657241557	0.68610	0.717287063599	0.69652	T	0.055787	0.30103	T	0.265341	0.80019	D	0.233098	0.84820	D	0.942513883113861	0.61678	D	0.90061	0.65471	D	0.58487433	0.71874	0.59733176	0.76617	0.58487433	0.71875	0.59733176	0.76618	-11.572	0.82704	D	.	.	0.372	0.58546	A	.;.;.;.	.;.;.;.	4.629510	0.73586	26.0	0.99830446136636652	0.91198	0.97608	0.75872	D	AEFDBCI	0.934609	0.92823	D	0.728969479596118	0.81532	7.544273	0.693086033931177	0.81855	7.62499	0.999999999975794	0.74766	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.622129	0.49086	0	.	.	4.77	4.77	0.60425	9.912000	0.98686	8.495000	0.77341	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.055000	0.15596	0.0:0.0:1.0:0.0	17.413	0.87384	758	0.50837	ADAM-TS Spacer 1;.;ADAM-TS Spacer 1;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	387.49	37	chr14	73251775	.	G	A	387.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.327;DP=212;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.11;ReadPosRankSum=-0.34;SOR=0.963	GT:AD:DP:GQ:PL	0/1:16,16:32:99:398,0,387	6	0	1	0
chr14	73862686	73862686	G	T	exonic	PTGR2	.	stopgain	PTGR2:NM_001371335:exon4:c.G187T:p.E63X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	38.05	3	chr14	73862686	.	G	T	38.05	.	AC=2;AF=0.25;AN=8;DP=8;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.25;MQ=60;QD=19.03;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	3	1	0	3
chr14	74260600	74260600	A	G	exonic	VSX2	.	nonsynonymous SNV	VSX2:NM_182894:exon5:c.A767G:p.H256R	Microphthalmia with coloboma 3;Microphthalmia, isolated 2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.756	0.368702251261	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.972	0.72692	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.22	0.62911	M	-3.22	0.93352	D	-7.79	0.95897	D	0.774	0.77132	0.783	0.94206	D	0.843	0.94753	D	10	0.8833517	0.87653	D	0.368702	0.92692	D	0.756	0.91668	0.363	0.36874	0.94806301202	0.94752	0.6880629616102394	0.68746	0.517063166521	0.49585	0.900497615337	0.96496	D	0.800993	0.94926	D	0.287065	0.81912	D	0.174572	0.81679	D	0.999006927013397	0.95858	D	0.831417	0.49863	T	0.9107018	0.92360	0.8661791	0.92603	0.9107018	0.92361	0.8661791	0.92603	-14.381	0.94229	D	0.5525977982605903	0.62105	0.990	0.93663	P	.	.	5.161832	0.86488	28.9	0.99645123194412455	0.76943	0.99224	0.93061	D	AEFDBI	0.895571	0.83573	D	0.63733168458961	0.75552	6.326062	0.591824284882662	0.74350	6.122485	0.999983620575	0.51787	0.516011	0.20929	0	0.610034	0.51514	0	0.59043	0.30614	0	0.613276	0.41899	0	.	.	4.93	3.78	0.42629	8.735000	0.91247	11.161000	0.87651	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.9245:0.0:0.0755:0.0	10.672	0.44961	577	0.69927	CVC domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	192.49	31	chr14	74260600	.	A	G	192.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.96;DP=193;ExcessHet=0;FS=1.913;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.32;ReadPosRankSum=-1.514;SOR=0.33	GT:AD:DP:GQ:PL	0/1:10,7:17:99:203,0,256	6	0	1	0
chr14	94284024	94284024	C	T	exonic	SERPINA10	.	nonsynonymous SNV	SERPINA10:NM_001100607:exon5:c.G1276A:p.E426K,SERPINA10:NM_016186:exon5:c.G1276A:p.E426K	.	427	1069	25	1	0	27	0.0124711	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.611	.	0.0003	0.00299521	0.0020	9.612e-05	0.0008	0	0.0003	0.0004	0.0033	0.0126	0.0017982	278	154602	rs145648775	0.0011	0.0011	0.0006	0.0015	0.0133	0.0010	0.0010	0.0127	0.0124	2.987e-05	0.0003	0.0003	5.038e-05	9.36e-05	0.0038	0.0003	0.0010	0.0133	0.0008	0.0008	0.0005	0.0012	0.0164	0.0007	0.0007	0.0135	0.0124	0.0002	0	0.0007	0	0	9.427e-05	0.0034	0.0005	0	0.0164	0.021	0.56456	D	0.036	0.53072	D	0.998	0.73220	D	0.917	0.65306	D	0.000004	0.62929	D	0.000000	0.998659	0.48408	D	2.115	0.58683	M	-2.41	0.88533	D	-2.7	0.57599	D	0.257	0.34659	0.690	0.93049	D	0.779	0.92492	D	10	0.0064769983	0.00147	T	.	.	.	0.611	0.84773	.	.	0.892773738801	0.89171	0.6828012008231884	0.68219	0.162893000959	0.18384	0.378734469414	0.22077	T	0.377743	0.74087	T	-0.114024	0.34105	T	0.0744667	0.75208	D	0.0595708028641465	0.07101	T	0.746525	0.36724	T	0.8849335	0.90077	0.7381103	0.84521	0.8849335	0.90079	0.7381103	0.84522	-8.826	0.66570	D	.	.	0.182	0.55201	B	.;.;.;.	.;.;.;.	3.740567	0.53561	23.4	0.99892103190004844	0.96589	0.86037	0.45245	D	AEFBI	0.533762	0.55308	D	0.365894956527431	0.59584	4.13897	0.273811328633932	0.54015	3.56789	0.997626442340196	0.35831	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.7	4.81	0.61401	2.114000	0.41535	2.219000	0.31434	0.454000	0.21428	1.000000	0.71638	0.978000	0.30204	0.982000	0.59238	0.0:0.9305:0.0:0.0695	14.634	0.68280	923	0.18507	Serpin domain|Serpin domain|Protein Z-dependent peptidase inhibitor;Serpin domain|Serpin domain|Protein Z-dependent peptidase inhibitor;Serpin domain|Serpin domain|Protein Z-dependent peptidase inhibitor;Serpin domain|Serpin domain|Protein Z-dependent peptidase inhibitor	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003535	0.000000	0.002717	0.002924	0.000000	0.000000	0.009317	0.000000	0.2143	2027.72	33	chr14	94284024	.	C	T	2027.72	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-1.318;DP=229;ExcessHet=0;FS=2.365;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=23.04;ReadPosRankSum=-0.42;SOR=0.43	GT:AD:DP:GQ:PL	0/1:16,11:27:99:236,0,427	5	1	1	0
chr14	94448330	94448330	G	A	exonic	SERPINA11	.	nonsynonymous SNV	SERPINA11:NM_001080451:exon2:c.C445T:p.P149S	.	421	1098	3	0	0	3	0.00136426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.533	0.0571845778194	0.0028	0.000599042	0.0022	0.0004	0.0025	0	0.0006	0.0034	0.0011	0.0004	0.0022121	342	154602	rs61738925	0.0029	0.0029	0.0030	0.0027	0.0033	0.0028	0.0028	0.0032	0.0032	0.0006	0.0032	0.0028	0	0.0005	0.0016	0.0033	0.0038	0.0003	0.0025	0.0025	0.0023	0.0028	0.0048	0.0023	0.0022	0.0039	0.0036	0.0007	0	0.0048	0.0040	0	0.0004	0	0.0037	0.0038	0.0004	0.006	0.61437	D	0.024	0.56640	D	0.295	0.32424	B	0.179	0.35808	B	0.000256	0.46924	D	0.092528	0.870577	0.35555	D	2.37	0.68279	M	-1.8	0.83893	D	-2.21	0.49684	N	0.427	0.46649	0.266	0.86999	D	0.550	0.83503	D	10	0.014007002	0.00295	T	0.057185	0.66874	D	0.533	0.80367	.	.	0.730538620245	0.72814	0.38509404776505335	0.38424	0.317205355367	0.33965	0.353736400604	0.18471	T	0.339486	0.70862	T	-0.249648	0.14140	T	-0.132217	0.60785	T	0.0277473004377803	0.01651	T	0.670133	0.27879	T	0.3237854	0.54958	0.38823158	0.63672	0.3237854	0.54958	0.38823158	0.63672	-10.395	0.76242	D	.	.	0.326	0.54918	B	.	.	3.211850	0.43726	21.8	0.99899416708535194	0.97124	0.78989	0.39059	D	AEFDBI	0.676660	0.64163	D	0.0888398172282625	0.45943	2.842489	0.121228589835616	0.45636	2.823309	0.999998580860093	0.74766	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.04	5.04	0.67293	2.492000	0.44970	7.125000	0.57606	0.676000	0.76740	0.942000	0.32722	1.000000	0.68203	0.007000	0.07825	0.0:0.0:0.8514:0.1486	14.338	0.66168	895	0.25842	Serpin domain|Serpin domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.07143	284.44	37	chr14	94448330	.	G	A	284.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.203;DP=272;ExcessHet=0;FS=1.201;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=5.17;ReadPosRankSum=-1.518;SOR=0.942	GT:AD:DP:GQ:PL	0/1:41,14:55:99:295,0,1125	6	0	1	0
chr14	104949281	104949281	G	A	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.C5870T:p.P1957L,AHNAK2:NM_138420:exon7:c.C6170T:p.P2057L	.	842	668	11	1	0	13	0.00963677	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	.	.	0.0670927	0.0002	0.0004	0.0001	0.0001	0	0.0002	0	8.326e-05	0.0033247	514	154602	rs561933027	7.826e-05	0.0005	7.26e-05	8.398e-05	0.0011	6.392e-05	5.83e-05	0.0004	0.0003	0.0005	0.0001	0	0.0001	0	0.0011	1.443e-05	0.0001	0.0005	7.749e-05	0.0011	5.681e-05	9.914e-05	0.0001	3.825e-05	2.801e-05	5.417e-05	3.537e-05	0.0001	0	0	0	0	0	0	5.148e-05	0.0007	0	0.007	0.59928	D	0.006	0.70582	D	0.029	0.19866	B	0.009	0.14300	B	.	.	.	.	1	0.08975	N	1.535	0.38868	L	4.88	0.01439	T	-6.02	0.89684	D	0.08	0.05542	-0.9927	0.31906	T	0.009	0.03227	T	9	0.0025387108	0.00038	T	.	.	.	0.081	0.23632	.	.	0.0611884634855	0.05136	0.03771500750535149	0.03717	.	.	0.19974796474	0.00449	T	0.050646	0.28655	T	-0.668646	0.00056	T	-0.740025	0.03889	T	0.0220577902218616	0.00915	T	0.49705	0.15447	T	0.05052777	0.09141	0.0893155	0.20880	0.05052777	0.09141	0.0893155	0.20879	-6.587	0.50953	T	.	.	0.092	0.13737	B	.	.	1.220310	0.16140	12.34	0.43822318891268208	0.03326	0.12080	0.17047	N	AEFBI	.	.	.	-1.62279424807614	0.01155	0.05018956	-1.68153671317487	0.01221	0.05500561	9.65762816530308E-5	0.04910	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	4.25	0.194	0.14424	0.826000	0.27061	-2.857000	0.03290	-1.837000	0.00584	0.010000	0.18352	0.000000	0.08366	0.000000	0.00833	0.2283:0.0:0.6512:0.1204	7.173	0.24907	982	0.03397	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.003026	0.000000	0.000000	0.011905	0.000000	0.000000	0.010309	0.000000	0.25	352.17	.	chr14	104949281	.	G	A	352.17	.	AC=2;AF=0.25;AN=8;BaseQRankSum=-1.986;DP=341;ExcessHet=0.6695;FS=0.816;MLEAC=3;MLEAF=0.375;MQ=56.44;MQRankSum=-6.56;QD=1.57;ReadPosRankSum=1.86;SOR=0.75	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:78,8:86:99:0|1:104949256_A_G:101,0,3251:104949256	2	0	2	3
chr14	104949306	104949306	T	C	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.A5845G:p.T1949A,AHNAK2:NM_138420:exon7:c.A6145G:p.T2049A	.	890	610	19	3	0	25	0.0200803	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	.	.	0.165136	0.0004	0.0006	0	0.0001	0	0.0003	0	0.0010	0.0069598	1076	154602	rs201406401	0.0004	0.0031	0.0003	0.0005	0.0018	0.0004	0.0004	0.0015	0.0014	0.0014	0.0003	0.0006	0.0005	2.672e-05	0.0003	0.0002	0.0006	0.0018	0.0005	0.0027	0.0005	0.0005	0.0010	0.0004	0.0003	0.0007	0.0006	0.0010	0	0.0002	0	0	0	0	0.0003	0	0.0004	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.64	0.02118	N	5.92	0.00621	T	0.87	0.01688	N	0.022	0.00372	-0.9740	0.36344	T	0.001	0.00287	T	9	0.0027029812	0.00042	T	.	.	.	0.016	0.02506	.	.	0.0138822411134	0.00435	0.00708365487551219	0.00675	.	.	0.196304097772	0.00357	T	0.015964	0.13288	T	-0.459638	0.00988	T	-0.898015	0.00517	T	0.000721562574598981	0.00007	T	0.190681	0.02037	T	0.02292779	0.00991	0.037992395	0.03572	0.02292779	0.00991	0.037992395	0.03571	0.421	0.00230	T	.	.	0.056	0.00470	B	.	.	-1.055756	0.00696	0.020	0.36831802887168441	0.02392	0.00115	0.00727	N	AEFBI	.	.	.	-2.08686289980388	0.00137	0.005858008	-2.06374372785095	0.00223	0.009847368	5.71204682153802E-4	0.07363	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.714379	0.83352	0	.	.	3.87	-3.46	0.04465	-0.796000	0.04680	-15.353000	0.00361	-0.939000	0.02101	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3694:0.2156:0.415	6.357	0.20613	982	0.03397	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.027982	0.093220	0.009967	0.024096	0.000000	0.038462	0.000000	0.025253	0.3333	357.68	19	chr14	104949306	.	T	C	357.68	.	AC=2;AF=0.333;AN=6;BaseQRankSum=-1.977;DP=391;ExcessHet=0.6695;FS=0;MLEAC=3;MLEAF=0.5;MQ=57.34;MQRankSum=-7.827;QD=1.6;ReadPosRankSum=3.31;SOR=0.618	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:78,8:86:99:0|1:104949256_A_G:101,0,3251:104949256	1	0	2	4
chr14	104949324	104949324	C	T	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.G5827A:p.A1943T,AHNAK2:NM_138420:exon7:c.G6127A:p.A2043T	.	455	1049	14	4	0	22	0.0103774	.	.	.	2807471	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.021	.	.	0.0163738	0.0002	0.0009	0	0.0002	0	0.0001	0	0.0002	0.0005498	85	154602	rs200010377	5.587e-05	0.0005	5.654e-05	5.519e-05	0.0006	4.516e-05	4.146e-05	0.0004	0.0004	0.0006	0.0002	0	5.066e-05	0	0.0002	1.882e-05	0.0002	0.0001	0.0002	0.0008	0.0002	0.0003	0.0005	0.0002	0.0001	0.0004	0.0003	0.0005	0	9.124e-05	0	0.0002	0	0	4.935e-05	0.0007	0	0.34	0.12714	T	0.41	0.14544	T	0.999	0.77913	D	0.958	0.70027	D	.	.	.	.	1	0.08975	N	1.04	0.26193	L	5.55	0.00874	T	-1.07	0.27876	N	0.079	0.05414	-0.9307	0.44036	T	0.008	0.02720	T	9	0.0046064258	0.00096	T	.	.	.	0.021	0.04004	.	.	0.0401082797425	0.02173	0.00525549496637017	0.00496	.	.	0.213303595781	0.00959	T	0.020106	0.15893	T	-0.567867	0.00228	T	-0.755918	0.03260	T	0.0209839604794979	0.00799	T	0.377062	0.09013	T	0.015034415	0.00119	0.036937363	0.03242	0.015034415	0.00119	0.036937363	0.03241	-6.702	0.51825	T	.	.	0.077	0.06479	B	.	.	0.220959	0.06035	2.475	0.9947742150937795	0.66687	0.01841	0.05704	N	AEFBI	.	.	.	-0.425225448838182	0.24588	1.328673	-0.675545245549276	0.17572	0.9350048	1.65893175846788E-4	0.05721	0.706548	0.73137	0	0.573888	0.26702	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	3.87	0.935	0.18608	-1.254000	0.02984	-8.576000	0.00947	-0.944000	0.02069	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1662:0.6467:0.0:0.1871	5.083	0.14002	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.029447	0.113636	0.019284	0.018182	0.000000	0.017241	0.008000	0.016667	0.1429	354.24	35	chr14	104949324	.	C	T	354.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-2.01;DP=475;ExcessHet=0.3476;FS=0;MLEAC=2;MLEAF=0.143;MQ=57.51;MQRankSum=-7.874;QD=1.48;ReadPosRankSum=3.26;SOR=0.761	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:79,8:87:98:0|1:104949256_A_G:98,0,3253:104949256	5	0	2	0
chr15	22081297	22081297	T	C	exonic	OR4M2	.	nonsynonymous SNV	OR4M2:NM_001004719:exon1:c.T673C:p.F225L	.	540	106	147	729	0	1605	0.883324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	.	.	.	0.9050	0.7710	0.9468	0.9535	0.9317	0.9220	0.9117	0.8549	0.780262	120630	154602	rs491208	0	5.101e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.000844	0.41440	N	0.000000	1	0.08975	P	-2.445	0.00066	N	.	.	.	.	.	.	0.024	0.00445	-0.9717	0.36841	T	0.000	0.00011	T	9	7.2730036e-05	0.00009	T	.	.	.	.	.	0.54	0.65161	.	.	0.19599440268041618	0.19516	.	.	.	.	.	0.00272	0.02115	T	-0.672873	0.00053	T	-0.702807	0.05673	T	0.00771905005910873	0.00090	T	0.142386	0.01156	T	0.07985808	0.18268	0.08259106	0.18862	0.07985808	0.18267	0.08259106	0.18861	0.242	0.00274	T	.	.	0.245	0.47901	B	.	.	1.048175	0.14294	10.87	0.73235698812529659	0.10255	0.01725	0.05460	N	AEFGBCI	.	.	.	-1.86751014071891	0.00400	0.01720119	-1.75517952119794	0.00914	0.04088312	0.944484955208236	0.27617	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	2.5	0.487	0.16050	-0.893000	0.04234	-0.516000	0.08717	-0.757000	0.03535	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.0:0.4472:0.0:0.5528	6.210	0.19834	.	.	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.865792	0.833333	0.845109	0.862573	0.900000	0.887931	0.920732	0.867424	0.8571	7281.9	27	chr15	22081297	.	T	C	7281.9	.	AC=12;AF=0.857;AN=14;BaseQRankSum=8.72;DP=836;ExcessHet=0.3476;FS=134.374;MLEAC=12;MLEAF=0.857;MQ=46.84;MQRankSum=-7.545;QD=9.34;ReadPosRankSum=0.422;SOR=7.264	GT:AD:DP:GQ:PL	0/1:86,26:112:99:499,0,2222	0	5	2	0
chr15	23361381	23361381	G	0	exonic	GOLGA8H;GOLGA8S	.	.	.	.	434	682	98	9	299	415	0.0783784	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	876.74	50	chr15	23361381	.	G	*	876.74	.	AC=5;AF=0.357;AN=14;DP=421;ExcessHet=1.4958;FS=0.825;MLEAC=5;MLEAF=0.357;MQ=54.03;QD=2.34;SOR=0.643	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:29,7:36:99:.:.:207,0,1144:.	2	0	5	0
chr15	23440492	23440492	C	0	exonic	GOLGA6L2	.	.	.	.	628	57	798	30	9	867	0.882716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	11756.5	113	chr15	23440492	.	C	*	11756.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=1.82;DP=810;ExcessHet=0;FS=0;MLEAC=7;MLEAF=0.583;MQ=58.45;MQRankSum=-0.27;QD=15.03;ReadPosRankSum=0.216;SOR=0.697	GT:AD:DP:GQ:PL	1/0:20,22:66:99:920,148,1153	0	0	6	1
chr15	28018408	28018408	G	A	exonic	OCA2	.	nonsynonymous SNV	OCA2:NM_000275:exon7:c.C796T:p.R266W,OCA2:NM_001300984:exon7:c.C796T:p.R266W	Albinism, brown oculocutaneous, Autosomal recessive;Albinism, oculocutaneous, type II, Autosomal recessive	1	1490	26	5	0	36	0.0119363	.	.	.	255150	Tyrosinase-positive_oculocutaneous_albinism|not_specified|SKIN/HAIR/EYE_PIGMENTATION_1,_BLUE/NONBLUE_EYES|not_provided	MONDO:MONDO:0008746,MedGen:C0268495,OMIM:203200,Orphanet:79432|MedGen:CN169374|MedGen:C1856895,OMIM:227220|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.186	.	0.0098	0.014976	0.0053	0.0265	0.0016	0.0002	0.0002	0.0021	0	0.0126	0.0050452	780	154602	rs33929465	0.0031	0.0031	0.0029	0.0033	0.0252	0.0030	0.0030	0.0238	0.0233	0.0252	0.0017	0.0044	0.0001	0.0003	0.0042	0.0019	0.0043	0.0122	0.0086	0.0086	0.0087	0.0085	0.0258	0.0082	0.0081	0.0245	0.0240	0.0258	0	0.0027	0.0023	0	0.0002	0	0.0018	0.0057	0.0106	0.002	0.72154	D	0.017	0.60337	D	0.998	0.77913	D	0.857	0.61067	P	0.000471	0.44119	D	0.186492	1	0.08975	N	2.505	0.72935	M	-0.61	0.71779	T	-2.87	0.62747	D	0.305	0.34444	-0.7965	0.55350	T	0.127	0.43442	T	10	0.0064091086	0.00145	T	.	.	.	0.186	0.46104	.	.	0.809321267362	0.80753	0.54446018412479	0.54372	0.100621667693	0.11367	0.296532452106	0.09886	T	0.566389	0.85571	D	-0.384567	0.02915	T	-0.305583	0.44132	T	0.0367755330955021	0.03116	T	0.848615	0.61581	T	0.12093474	0.28447	0.11462598	0.27671	0.12553465	0.29425	0.11925958	0.28786	-6.67	0.51584	T	0.44216703426312537	0.52746	0.100	0.17275	B	.;.	.;.	2.523505	0.32609	19.09	0.99234355712714151	0.56342	0.30715	0.24153	N	AEFDBHCI	0.334163	0.43301	N	-0.425583408007277	0.24575	1.327918	-0.608400826377864	0.19277	1.033552	0.707157374181698	0.22774	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.36	0.00668	0.13389	0.620000	0.24097	0.147000	0.15245	-0.153000	0.12021	0.679000	0.28429	0.000000	0.08366	0.123000	0.19290	0.1453:0.0:0.4719:0.3828	5.802	0.17680	940	0.13648	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.005035	0.005051	0.002717	0.005848	0.000000	0.008621	0.006098	0.007576	0.07143	463.83	27	chr15	28018408	.	G	A	463.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.56;DP=203;ExcessHet=0;FS=2.795;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.6;ReadPosRankSum=0.501;SOR=0.484	GT:AD:DP:GQ:PL	0/1:21,19:40:99:474,0,469	6	0	1	0
chr15	34359248	34359248	G	C	exonic	LPCAT4	.	nonsynonymous SNV	LPCAT4:NM_153613:exon14:c.C1454G:p.T485S	.	429	1089	4	0	0	4	0.00183318	.	.	.	3284171	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.207	0.0264043269081	0.0002	0.000399361	0.0005	0	0	0.0006	0	0.0005	0	0.0009	0.0001746	27	154602	rs201047365	0.0002	0.0002	0.0002	0.0003	0.0021	0.0002	0.0002	0.0012	0.0010	3.084e-05	0.0001	0.0001	0	0	0.0021	0.0002	0.0002	0.0008	0.0002	0.0002	0.0001	0.0003	0.0010	0.0002	0.0001	0.0004	0.0003	0	0	0	0.0006	0.0002	0	0	0.0004	0	0.0010	0.326	0.13306	T	0.194	0.29346	T	0.012	0.16265	B	0.014	0.16862	B	0.013040	0.28974	N	0.399491	0.979346	0.25188	N	1.67	0.42885	L	-1.41	0.80560	T	-0.89	0.24026	N	0.139	0.30800	-0.7715	0.56775	T	0.376	0.73401	T	10	0.03060332	0.01188	T	0.026404	0.49319	D	0.207	0.49555	0.243	0.17677	0.340432005269	0.33650	0.1538568825413111	0.15307	0.0103819090981	0.00952	0.429844588041	0.29186	T	0.021353	0.16640	T	-0.264653	0.12359	T	-0.254899	0.49333	T	0.0116890933627776	0.00179	T	0.553645	0.25361	T	0.08405827	0.19440	0.09838594	0.23454	0.08405827	0.19439	0.09838594	0.23454	-4.018	0.24072	T	.	.	0.116	0.27762	B	.;.	.;.	3.166715	0.42928	21.6	0.97862452744372641	0.36472	0.95072	0.63335	D	AEFDBI	0.613050	0.60089	D	-0.0454744949851482	0.39806	2.353352	0.149672728781045	0.47125	2.94746	0.999999999311776	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.44	5.44	0.79348	5.205000	0.65020	11.815000	0.97057	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	16.165	0.81564	667	0.61242	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	529.49	35	chr15	34359248	.	G	C	529.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.364;DP=233;ExcessHet=0;FS=1.078;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.38;ReadPosRankSum=-0.416;SOR=0.527	GT:AD:DP:GQ:PL	0/1:27,24:51:99:540,0,704	6	0	1	0
chr15	41096253	41096253	G	C	exonic	INO80	.	nonsynonymous SNV	INO80:NM_017553:exon2:c.C58G:p.L20V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.499	0.230949694038	.	.	8.341e-06	0	0	0	0	1.513e-05	0	0	6.5e-06	1	154602	rs766496543	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.35918	T	0.07	0.43721	T	0.993	0.65571	D	0.967	0.71530	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.755	0.45626	L	-3.11	0.92721	D	-0.97	0.25770	N	0.658	0.68255	0.770	0.94036	D	0.844	0.94774	D	10	0.575322	0.65547	D	0.23095	0.88253	D	0.499	0.78288	0.236	0.16608	0.661633646292	0.65880	0.5260119555163638	0.52525	0.310035681446	0.33317	0.780231118202	0.78962	T	0.05765	0.30625	T	0.170503	0.71171	D	0.00713946	0.70798	D	0.634292668284165	0.37796	D	0.927907	0.73422	D	0.27592942	0.50656	0.27308488	0.53225	0.27592942	0.50655	0.27308488	0.53224	-4.238	0.27298	T	.	.	0.140	0.33846	B	.;.;.	.;.;.	4.624555	0.73463	26.0	0.99802759949871023	0.88728	0.98127	0.79829	D	AEFDBCI	0.868620	0.78881	D	0.846005111031047	0.88879	9.747598	0.867441971670391	0.93991	12.42632	0.999999999923393	0.74766	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.9	5.9	0.94952	9.602000	0.97623	11.835000	0.97647	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	20.272	0.98481	295	0.88218	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	169.06	38	chr15	41096253	.	G	C	169.06	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-1.815;DP=293;ExcessHet=0.3476;FS=107.547;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=1.57;ReadPosRankSum=2.03;SOR=6.592	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:26,7:33:53:0|1:41096253_G_C:53,0,670:41096253	5	0	2	0
chr15	42417393	42417393	G	C	exonic	ZNF106	.	nonsynonymous SNV	ZNF106:NM_001381998:exon20:c.C3079G:p.L1027V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.743e-06	0.0001	0	5.513e-06	3.606e-06	6.4e-07	4.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.606e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	244.8	29	chr15	42417393	.	G	C	244.8	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.665;DP=287;ExcessHet=3.1439;FS=133.806;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=1.18;ReadPosRankSum=0.449;SOR=7.111	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:21,7:28:99:0|1:42417393_G_C:114,0,735:42417393	4	0	2	1
chr15	42746112	42746112	G	A	exonic	TTBK2	.	nonsynonymous SNV	TTBK2:NM_173500:exon15:c.C3418T:p.P1140S	Spinocerebellar ataxia 11, Autosomal dominant	0	1519	3	0	0	3	0.000986518	.	.	.	338892	not_specified|Spinocerebellar_ataxia_type_11|Inborn_genetic_diseases|not_provided	MedGen:CN169374|MONDO:MONDO:0011464,MedGen:C1858351,OMIM:604432,Orphanet:98767|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.114	0.0170398386012	.	.	4.968e-05	0	0	0	0	5.993e-05	0.0022	0	5.17e-05	8	154602	rs576737530	5.951e-05	5.951e-05	5.989e-05	5.913e-05	0.0002	4.882e-05	4.561e-05	0.0001	0.0001	0	0	0	0	0	0	5.665e-05	9.934e-05	0.0002	3.944e-05	3.94e-05	7.71e-05	0	0.0002	1.716e-05	1.13e-05	2.846e-05	1.858e-05	0	0	0	0	0	0	0	7.349e-05	0	0.0002	0.077	0.34095	T	0.186	0.37872	T	0.999	0.77913	D	0.915	0.65091	D	0.000033	0.55875	D	0.125119	0.999972	0.53665	D	1.06	0.26948	L	1.17	0.37910	T	-0.73	0.20576	N	0.459	0.49602	-0.8494	0.52010	T	0.213	0.57334	T	10	0.20656064	0.36921	T	0.01704	0.38572	T	0.114	0.32008	.	.	0.123314135267	0.11883	0.25473046739193933	0.25387	0.871836948179	0.69430	0.77098095417	0.77572	T	0.069667	0.33766	T	-0.243092	0.14956	T	-0.312661	0.43371	T	0.208229258656502	0.20860	T	0.89491	0.63503	D	0.10825877	0.25598	0.12518154	0.30165	0.117083795	0.27606	0.13276969	0.31851	-3.528	0.16826	T	.	.	0.213	0.53245	B	.;.	.;.	4.573951	0.72187	25.8	0.99918372881198525	0.98586	0.96582	0.69863	D	AEFBI	0.692845	0.65237	D	0.718699242245432	0.80859	7.388457	0.709350378646159	0.83091	7.930994	0.999999624283061	0.74766	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.13	5.13	0.69729	6.657000	0.74250	9.975000	0.82886	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	18.781	0.91895	84	0.96491	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.07143	758.44	33	chr15	42746112	.	G	A	758.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.543;DP=269;ExcessHet=0;FS=0.839;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.14;ReadPosRankSum=1.19;SOR=0.776	GT:AD:DP:GQ:PL	0/1:49,34:83:99:769,0,1156	6	0	1	0
chr15	43021291	43021291	A	G	exonic	UBR1	.	nonsynonymous SNV	UBR1:NM_174916:exon27:c.T2924C:p.I975T	Johanson-Blizzard syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.352	0.0568671016026	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1287101894	1.386e-06	1.508e-05	0	2.783e-06	2.329e-05	2.3e-07	9e-08	3.87e-06	1.45e-06	0	0	0	0	0	0	0	0	2.329e-05	6.571e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.002	0.72154	D	0.003	0.76473	D	0.877	0.48223	P	0.335	0.42239	B	0.000088	0.51296	D	0.168957	0.999825	0.81001	D	1.87	0.49600	L	0.39	0.57419	T	-3.24	0.65171	D	0.897	0.90251	-0.5780	0.65696	T	0.227	0.59208	T	10	0.901292	0.89490	D	0.056867	0.66759	D	0.352	0.67326	0.75	0.88071	0.700849342337	0.69825	0.45486979996443216	0.45404	0.331662542844	0.35236	0.694372951984	0.66333	T	0.758848	0.93451	D	0.0949073	0.63738	D	-0.00459463	0.70038	D	0.908208012580872	0.56272	D	0.962104	0.85685	D	0.3664358	0.58321	0.44078487	0.67385	0.3664358	0.58321	0.44078487	0.67385	-7.526	0.57793	D	0.803226725685942	0.87956	0.531	0.66670	A	.;.	.;.	3.868307	0.56145	23.7	0.99495853286271851	0.67744	0.99753	0.99211	D	AEFBI	0.836665	0.75439	D	0.56937207432988	0.71269	5.625336	0.579739048421578	0.73488	5.978799	0.999853971234939	0.44174	0.706548	0.73137	0	0.653731	0.59785	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	4.83	4.83	0.61880	8.293000	0.89858	11.232000	0.90136	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	1.0:0.0:0.0:0.0	14.856	0.69969	15	0.98792	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	106.38	33	chr15	43021291	.	A	G	106.38	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-3.577;DP=489;ExcessHet=0.3476;FS=128.767;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=0.71;ReadPosRankSum=-0.269;SOR=9.065	GT:AD:DP:GQ:PL	0/1:43,12:55:12:12,0,655	5	0	2	0
chr15	43160731	43160731	G	C	exonic	TMEM62	.	nonsynonymous SNV	TMEM62:NM_001347019:exon7:c.G618C:p.E206D,TMEM62:NM_001347021:exon7:c.G618C:p.E206D,TMEM62:NM_001347023:exon7:c.G618C:p.E206D,TMEM62:NM_001347025:exon7:c.G618C:p.E206D,TMEM62:NM_001347027:exon7:c.G618C:p.E206D,TMEM62:NM_001347029:exon7:c.G618C:p.E206D,TMEM62:NM_001347030:exon7:c.G576C:p.E192D,TMEM62:NM_001347008:exon8:c.G837C:p.E279D,TMEM62:NM_001347011:exon8:c.G837C:p.E279D,TMEM62:NM_001347012:exon8:c.G837C:p.E279D,TMEM62:NM_001347017:exon8:c.G837C:p.E279D,TMEM62:NM_001347020:exon8:c.G618C:p.E206D,TMEM62:NM_001347024:exon8:c.G618C:p.E206D,TMEM62:NM_001347026:exon8:c.G618C:p.E206D,TMEM62:NM_001347028:exon8:c.G618C:p.E206D,TMEM62:NM_001347031:exon8:c.G966C:p.E322D,TMEM62:NM_001347033:exon8:c.G966C:p.E322D,TMEM62:NM_001347034:exon8:c.G609C:p.E203D,TMEM62:NM_001347005:exon9:c.G843C:p.E281D,TMEM62:NM_001347007:exon9:c.G843C:p.E281D,TMEM62:NM_001347009:exon9:c.G837C:p.E279D,TMEM62:NM_001347010:exon9:c.G837C:p.E279D,TMEM62:NM_001347013:exon9:c.G837C:p.E279D,TMEM62:NM_001347014:exon9:c.G843C:p.E281D,TMEM62:NM_001347016:exon9:c.G843C:p.E281D,TMEM62:NM_001347018:exon9:c.G837C:p.E279D,TMEM62:NM_001347004:exon10:c.G843C:p.E281D,TMEM62:NM_001347006:exon10:c.G843C:p.E281D,TMEM62:NM_001347015:exon10:c.G843C:p.E281D,TMEM62:NM_001347032:exon10:c.G1233C:p.E411D,TMEM62:NM_024956:exon10:c.G1233C:p.E411D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.0025627574351	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1468500571	1.369e-06	1.368e-06	1.362e-06	1.376e-06	8.998e-07	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.998e-07	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.84	0.02811	T	1.0	0.01155	T	0.012	0.16265	B	0.005	0.11217	B	0.000010	0.62929	D	0.147216	0.520116	0.31576	N	1.575	0.39704	L	.	.	.	1.91	0.00451	N	0.123	0.11483	-1.0524	0.13736	T	0.031	0.13330	T	9	0.09335083	0.16513	T	0.002563	0.05150	T	0.073	0.21317	0.727	0.86111	0.277730125212	0.27379	0.37422231181351223	0.37336	0.18710114538	0.21023	0.399797260761	0.25040	T	0.023449	0.17897	T	-0.204464	0.20163	T	-0.531475	0.19139	T	0.0632710531353951	0.07673	T	0.622038	0.23930	T	0.042298853	0.06391	0.055361826	0.09697	0.042298853	0.06391	0.055361826	0.09697	-4.362	0.29037	T	.	.	0.100	0.16973	B	.	.	1.656808	0.21132	15.07	0.71685015015925724	0.09713	0.76181	0.37344	D	AEFBI	0.127985	0.24558	N	-0.6436237009584	0.17646	0.9097947	-0.423184879346946	0.24318	1.331027	0.691041926450423	0.22589	0.706548	0.73137	0	0.724815	0.89359	0	0.602189	0.34648	0	0.635551	0.53088	0	.	.	5.67	2.37	0.28337	0.802000	0.26730	1.651000	0.27846	0.671000	0.69459	0.982000	0.35529	1.000000	0.68203	0.998000	0.85391	0.3874:0.0:0.4078:0.2048	2.720	0.04876	18	0.98631	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	231.27	34	chr15	43160731	.	G	C	231.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.81;DP=199;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.85;ReadPosRankSum=0.518;SOR=0.693	GT:AD:DP:GQ:PL	0/1:9,9:18:99:241,0,184	5	0	1	1
chr15	43522483	43522483	G	A	exonic	MAP1A	.	nonsynonymous SNV	MAP1A:NM_002373:exon4:c.G1010A:p.R337Q	.	.	.	.	.	.	.	.	.	.	.	2398874	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.097	0.008641006815	.	.	5.967e-05	0	0	0	0	4.619e-05	0	0.0002	5.82e-05	9	154602	rs776191838	5.336e-05	5.336e-05	5.853e-05	4.813e-05	0.0003	4.344e-05	4.017e-05	0.0002	0.0001	0	0	0	0	0	0	4.586e-05	8.279e-05	0.0003	4.599e-05	4.593e-05	6.428e-05	2.688e-05	0.0002	2.109e-05	1.527e-05	2.847e-05	1.859e-05	0	0	6.542e-05	0	0	0	0	7.352e-05	0	0.0002	0.004	0.68238	D	0.025	0.56192	D	0.904	0.49848	P	0.23	0.38212	B	0.007902	0.31126	N	0.000000	0.995106	0.42546	D	1.7	0.43825	L	1.5	0.31205	T	-1.38	0.34992	N	0.417	0.45709	-0.9897	0.32677	T	0.076	0.30522	T	10	0.14679942	0.27826	T	0.008641	0.22829	T	0.097	0.27909	.	.	0.267718591433	0.26370	0.24151521810853574	0.24065	0.803644422357	0.66363	0.537724733353	0.44124	T	0.07111	0.34128	T	-0.321243	0.06797	T	-0.403027	0.33033	T	0.167923429949637	0.18438	T	0.931507	0.74787	D	0.14420074	0.33110	0.16181262	0.37619	0.14420074	0.33109	0.16181262	0.37618	-4.622	0.32447	T	.	.	0.137	0.29941	B	.;.	.;.	5.015162	0.83309	28.0	0.99805349215294004	0.88995	0.85616	0.44767	D	AEFBI	0.368996	0.45589	N	0.45996941158774	0.64769	4.739281	0.495641828838201	0.67699	5.119329	0.99999987166137	0.74766	0.625279	0.40028	0	0.563428	0.19063	0	0.577349	0.28860	0	0.59522	0.37078	0	.	.	5.07	5.07	0.68106	5.478000	0.66531	10.022000	0.83139	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.1251:0.0:0.8749:0.0	9.583	0.38662	19	0.98577	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	461.49	33	chr15	43522483	.	G	A	461.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.98;DP=219;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.49;ReadPosRankSum=0.072;SOR=0.752	GT:AD:DP:GQ:PL	0/1:26,18:44:99:472,0,637	6	0	1	0
chr15	45269512	45269512	G	C	exonic	SLC28A2	.	nonsynonymous SNV	SLC28A2:NM_004212:exon14:c.G1543C:p.E515Q	.	420	1094	8	0	0	8	0.00364299	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	0.00623506970177	0.0048	0.00179712	0.0028	0.0011	0.0017	0	0.0006	0.0042	0.0044	0.0013	0.0030918	478	154602	rs116547844	0.0054	0.0054	0.0056	0.0053	0.0066	0.0053	0.0053	0.0064	0.0064	0.0010	0.0023	0.0005	0	0.0005	0.0054	0.0066	0.0052	0.0013	0.0033	0.0033	0.0033	0.0033	0.0056	0.0030	0.0030	0.0051	0.0050	0.0011	0.0011	0.0029	0.0003	0	0.0006	0.0034	0.0056	0.0043	0.0025	0.179	0.22053	T	0.326	0.18789	T	0.336	0.33356	B	0.288	0.40614	B	0.664628	0.06000	N	1.144910	1	0.08975	N	2.16	0.60381	M	4.68	0.01715	T	-0.65	0.18877	N	0.082	0.05799	-0.8752	0.50135	T	0.007	0.02360	T	10	0.005625099	0.00125	T	0.006235	0.16347	T	0.070	0.20419	.	.	0.301789629655	0.29801	0.3037076334469012	0.30283	0.0417311112919	0.04484	0.209123313427	0.00774	T	0.008991	0.08212	T	-0.656498	0.00066	T	-0.710099	0.05290	T	0.00859307723044336	0.00105	T	0.860614	0.55382	D	0.062903844	0.13187	0.049496625	0.07575	0.062903844	0.13186	0.049496625	0.07574	-4.326	0.28540	T	.	.	0.072	0.04080	B	.	.	2.089018	0.26572	17.16	0.96800585995370847	0.31146	0.55948	0.29992	D	AEFI	0.201347	0.32802	N	-0.40896087354712	0.25155	1.363403	-0.415527722097581	0.24542	1.344454	0.161663059110697	0.17602	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	6.07	3.15	0.35301	2.148000	0.41859	0.257000	0.16498	0.672000	0.70159	0.034000	0.20669	0.000000	0.08366	0.966000	0.53164	0.24:0.0:0.76:0.0	9.412	0.37663	607	0.67291	Concentrative nucleoside transporter C-terminal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002520	0.000000	0.002717	0.002924	0.000000	0.008621	0.003067	0.000000	0.07143	432.63	33	chr15	45269512	.	G	C	432.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.346;DP=224;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.2;ReadPosRankSum=-0.683;SOR=0.859	GT:AD:DP:GQ:PL	0/1:28,19:47:99:443,0,763	6	0	1	0
chr15	50632919	50632919	C	T	exonic	TRPM7	.	nonsynonymous SNV	TRPM7:NM_001301212:exon9:c.G1081A:p.A361T,TRPM7:NM_017672:exon9:c.G1081A:p.A361T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.220	0.014782368737	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1450943095	1.381e-06	2.052e-06	0	2.775e-06	1.188e-05	2.3e-07	9e-08	.	.	0	0	0	0	0	0	9.034e-07	0	1.188e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.50676	D	0.039	0.51112	D	0.981	0.59675	D	0.704	0.54300	P	0.000001	0.62929	D	0.056150	1	0.81001	D	1.575	0.39704	L	1.71	0.26737	T	-1.86	0.43524	N	0.692	0.73826	-0.9796	0.35094	T	0.124	0.42736	T	10	0.53174496	0.63223	D	0.014782	0.35118	T	0.220	0.51569	0.467	0.53891	0.445614145163	0.44183	0.6056999606120872	0.60500	0.385891351295	0.39878	0.661958098412	0.61689	T	0.554541	0.84977	D	0.0387526	0.56881	T	-0.182111	0.56327	T	0.876106917858124	0.52598	D	0.89801	0.64352	D	0.26852235	0.49924	0.24354072	0.49799	0.26852235	0.49924	0.24354072	0.49798	-6.81	0.52633	T	.	.	0.504	0.64750	A	.;.;.	.;.;.	4.799410	0.77971	26.8	0.99837411731673387	0.91800	0.98521	0.83668	D	AEFBI	0.730147	0.67763	D	0.680384661679726	0.78347	6.853252	0.687355424195683	0.81417	7.522028	0.999999999999993	0.74766	0.719381	0.83141	0	0.723133	0.82719	0	0.65145	0.50148	0	0.635259	0.50027	0	.	.	5.29	5.29	0.74430	3.949000	0.56377	4.879000	0.45646	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	19.126	0.93369	564	0.70960	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	30.27	26	chr15	50632919	.	C	T	30.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.197;DP=258;ExcessHet=0;FS=196.762;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=0.84;ReadPosRankSum=0.982;SOR=7.275	GT:AD:DP:GQ:PL	0/1:26,10:36:40:40,0,415	5	0	1	1
chr15	50958567	50958567	A	G	exonic	AP4E1	.	nonsynonymous SNV	AP4E1:NM_001252127:exon14:c.A1399G:p.M467V,AP4E1:NM_007347:exon14:c.A1624G:p.M542V	Spastic paraplegia 51, autosomal recessive, Autosomal recessive;Stuttering, familial persistent, 1, Autosomal dominant	0	1520	2	0	0	2	0.000657462	.	.	.	688458	not_provided|Spastic_paraplegia	MedGen:C3661900|Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.051	0.00279038725834	.	0.000199681	0.0003	0	0	0	0	0	0	0.0021	0.0002458	38	154602	rs542940704	0.0001	0.0001	9.257e-05	0.0002	0.0018	0.0001	0.0001	0.0016	0.0015	0	0	0	0	0	0.0003	4.227e-05	0.0002	0.0018	6.563e-05	6.562e-05	1.285e-05	0.0001	0.0019	3.513e-05	2.613e-05	0.0010	0.0007	0	0	0	0	0	0	0	1.47e-05	0	0.0019	0.283	0.15354	T	0.293	0.20811	T	0.0	0.02946	B	0.002	0.06944	B	0.000493	0.43931	D	0.281346	0.999882	0.19853	N	-0.55	0.02420	N	1.96	0.22270	T	0.01	0.06868	N	0.11	0.13198	-1.0077	0.27634	T	0.022	0.09559	T	10	0.010067135	0.00225	T	0.00279	0.05810	T	0.051	0.14325	.	.	0.138757226776	0.13463	0.11684258658255613	0.11612	0.105448133668	0.11924	0.317348718643	0.13019	T	0.038179	0.24746	T	-0.560362	0.00252	T	-0.584482	0.14147	T	0.0376115697788814	0.03264	T	0.767123	0.39533	T	0.11116796	0.26273	0.1434094	0.34083	0.11116796	0.26272	0.1434094	0.34082	-3.05	0.11621	T	.	.	0.080	0.07889	B	.;.	.;.	1.454471	0.18762	13.91	0.90201905834016927	0.19476	0.78261	0.38585	D	AEFBI	0.085842	0.17403	N	-0.477684120440996	0.22814	1.220805	-0.280919962227481	0.28726	1.603951	0.943744916615813	0.27583	0.562547	0.31514	0	0.653731	0.59785	0	0.670488	0.60580	0	0.635551	0.53088	0	.	.	4.48	3.31	0.37025	1.533000	0.35645	0.424000	0.18252	0.756000	0.94297	1.000000	0.71638	0.025000	0.21018	0.984000	0.60418	0.834:0.166:0.0:0.0	10.310	0.42883	256	0.89942	Clathrin/coatomer adaptor, adaptin-like, N-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	531.63	33	chr15	50958567	.	A	G	531.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.23;DP=211;ExcessHet=0;FS=1.342;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.99;ReadPosRankSum=0.936;SOR=0.446	GT:AD:DP:GQ:PL	0/1:18,20:38:99:542,0,467	6	0	1	0
chr15	51480616	51480616	G	C	exonic	DMXL2	.	nonsynonymous SNV	DMXL2:NM_001378460:exon21:c.C4471G:p.L1491V,DMXL2:NM_001174117:exon22:c.C4582G:p.L1528V,DMXL2:NM_001378464:exon23:c.C6250G:p.L2084V,DMXL2:NM_001174116:exon24:c.C6490G:p.L2164V,DMXL2:NM_001378457:exon24:c.C6490G:p.L2164V,DMXL2:NM_001378458:exon24:c.C6490G:p.L2164V,DMXL2:NM_001378459:exon24:c.C6490G:p.L2164V,DMXL2:NM_001378461:exon24:c.C6490G:p.L2164V,DMXL2:NM_001378462:exon24:c.C6490G:p.L2164V,DMXL2:NM_001378463:exon24:c.C6490G:p.L2164V,DMXL2:NM_015263:exon24:c.C6490G:p.L2164V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.704	0.117777155765	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.094e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.998	0.73220	D	0.984	0.76113	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.405	0.69568	M	-2.06	0.85875	D	-2.88	0.60507	D	0.74	0.79406	0.483	0.90301	D	0.707	0.89914	D	10	0.7455675	0.75263	D	0.117777	0.79764	D	0.704	0.89376	0.462	0.53079	0.79628066686	0.79438	0.5831259576205228	0.58241	0.790969623184	0.65777	0.804797291756	0.82694	D	0.413358	0.76724	T	0.355009	0.86863	D	0.27217	0.86691	D	0.983855545520782	0.75369	D	0.938406	0.78595	D	0.71831286	0.79067	0.66708344	0.80475	0.71831286	0.79069	0.66708344	0.80476	-6.497	0.50739	T	.	.	0.783	0.76515	P	.;.;.	.;.;.	4.493995	0.70227	25.5	0.99814742571298831	0.89797	0.98484	0.83265	D	AEFBI	0.820937	0.74161	D	0.826416697591381	0.87726	9.319382	0.824365288908583	0.91435	10.88461	0.9999938428267	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.77	5.77	0.91077	6.935000	0.75699	11.904000	0.99435	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0725:0.0:0.9275:0.0	13.230	0.59363	505	0.75648	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.375	246.27	30	chr15	51480616	.	G	C	246.27	.	AC=3;AF=0.375;AN=8;BaseQRankSum=-4.117;DP=432;ExcessHet=1.383;FS=628.443;MLEAC=4;MLEAF=0.5;MQ=60;MQRankSum=0;QD=0.92;ReadPosRankSum=1.23;SOR=9.327	GT:AD:DP:GQ:PL	0/1:36,16:52:10:10,0,815	1	0	3	3
chr15	52279569	52279569	C	T	exonic	MYO5C	.	nonsynonymous SNV	MYO5C:NM_018728:exon3:c.G244A:p.A82T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.702	0.348806041533	.	.	2.485e-05	0.0001	0	0	0	2.997e-05	0	0	1.94e-05	3	154602	rs756262731	1.642e-05	1.642e-05	1.361e-05	1.925e-05	2.987e-05	1.111e-05	9.33e-06	1.012e-05	8.35e-06	2.987e-05	0	0	2.519e-05	1.872e-05	0	1.619e-05	3.312e-05	1.159e-05	2.629e-05	2.627e-05	2.57e-05	2.691e-05	7.243e-05	8.14e-06	5.14e-06	1.921e-05	1.032e-05	7.243e-05	0	0	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.993	0.81110	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.01	0.54746	M	-2.22	0.87038	D	-3.38	0.66780	D	0.87	0.86725	0.672	0.92827	D	0.792	0.92963	D	10	0.9055155	0.89916	D	0.348806	0.92213	D	0.702	0.89284	0.615	0.74884	0.916932696439	0.91609	0.7208093110260569	0.72023	0.600199696875	0.55114	0.793946504593	0.81043	T	0.522031	0.83303	D	0.152435	0.69495	D	0.162714	0.80972	D	0.822704881893752	0.47974	D	0.941306	0.78096	D	0.7962636	0.83668	0.78296137	0.87210	0.7962636	0.83670	0.78296137	0.87211	-8.937	0.67290	D	.	.	0.759	0.75438	P	.	.	5.007694	0.83134	28.0	0.99936452294405387	0.99621	0.98607	0.84635	D	AEFBI	0.874265	0.79705	D	0.768732910979555	0.84118	8.199539	0.731138583340117	0.84742	8.377754	0.999999999999989	0.74766	0.706548	0.73137	0	0.588015	0.36545	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.89	5.89	0.94758	7.905000	0.86479	7.677000	0.65097	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.831000	0.39176	0.0:1.0:0.0:0.0	20.256	0.98423	376	0.83959	Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class V myosin, motor domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.005051	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.07143	540.63	36	chr15	52279569	.	C	T	540.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.439;DP=222;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.81;ReadPosRankSum=-2.595;SOR=0.693	GT:AD:DP:GQ:PL	0/1:24,26:50:99:551,0,544	6	0	1	0
chr15	55359627	55359627	C	G	exonic	CCPG1	.	nonsynonymous SNV	CCPG1:NM_001204450:exon8:c.G2146C:p.V716L,CCPG1:NM_004748:exon8:c.G2146C:p.V716L,CCPG1:NM_020739:exon8:c.G2146C:p.V716L,CCPG1:NM_001204451:exon9:c.G997C:p.V333L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00601619530751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.821e-05	0.0007	5.573e-05	4.065e-05	6.087e-05	3.875e-05	3.55e-05	4.372e-05	3.933e-05	6.087e-05	0	3.858e-05	2.531e-05	0	0	5.531e-05	5.06e-05	2.337e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.654	0.32296	T	0.523	0.41074	T	0.458	0.36312	P	0.125	0.32635	B	0.154312	0.17865	N	0.613991	0.97429	0.25500	N	2.215	0.62545	M	3.86	0.30669	T	-0.99	0.26200	N	0.059	0.12627	-1.0586	0.12108	T	0.052	0.22269	T	10	0.053824097	0.05635	T	0.006016	0.15698	T	0.027	0.05988	0.213	0.13210	0.082315109003	0.07666	0.23983706607780256	0.23897	0.243686580979	0.26869	0.30338126421	0.10907	T	0.009022	0.08238	T	-0.188163	0.22529	T	-0.50806	0.21514	T	0.458560168743134	0.31113	T	0.682032	0.33613	T	0.077258244	0.17524	0.06391153	0.12730	0.077258244	0.17524	0.06391153	0.12729	-2.542	0.09967	T	.	.	0.230	0.47283	B	.;.;.;.	.;.;.;.	1.561984	0.20005	14.54	0.97137709401516181	0.32529	0.35420	0.25298	N	AEFBI	0.475035	0.51905	N	-0.296313876962296	0.29291	1.623008	-0.23329789577845	0.30350	1.70816	0.891671508385161	0.25865	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.83	2.92	0.32998	0.593000	0.23700	1.450000	0.26598	0.599000	0.40250	0.000000	0.06391	1.000000	0.68203	0.999000	0.91618	0.0:0.5919:0.0:0.4081	6.457	0.21139	878	0.29785	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	33.68	47	chr15	55359627	.	C	G	33.68	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.118;DP=417;ExcessHet=0;FS=277.51;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=0.82;ReadPosRankSum=0.642;SOR=8.789	GT:AD:DP:GQ:PL	0/1:25,16:41:44:44,0,330	6	0	1	0
chr15	56243149	56243149	T	G	exonic	RFX7	.	nonsynonymous SNV	RFX7:NM_022841:exon2:c.A137C:p.Q46P,RFX7:NM_001370561:exon4:c.A137C:p.Q46P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.216	0.0746610266054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	536.45	33	chr15	56243149	.	T	G	536.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.092;DP=235;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.41;ReadPosRankSum=0.632;SOR=0.751	GT:AD:DP:GQ:PL	0/1:21,26:47:99:547,0,408	6	0	1	0
chr15	58772221	58772221	C	T	exonic	MINDY2	.	nonsynonymous SNV	MINDY2:NM_001040450:exon1:c.C826T:p.L276F,MINDY2:NM_001040453:exon1:c.C826T:p.L276F	.	420	1072	30	0	0	30	0.0137994	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	.	0.0024	0.00539137	0.0045	0.0009	0.0006	0	0	0.0036	0.0045	0.0168	0.0042949	664	154602	rs116990761	0.0040	0.0040	0.0035	0.0044	0.0175	0.0039	0.0039	0.0168	0.0165	0.0005	0.0011	0.0044	0	0.0002	0.0083	0.0034	0.0040	0.0175	0.0025	0.0025	0.0025	0.0024	0.0176	0.0022	0.0022	0.0146	0.0135	0.0006	0.0011	0.0014	0.0040	0	0.0003	0.0068	0.0032	0.0033	0.0176	0.321	0.13522	T	0.397	0.15255	T	0.062	0.23277	B	0.074	0.28220	B	0.000159	0.49130	D	0.141146	0.999961	0.52935	D	.	.	.	0.59	0.53943	T	-1.28	0.32185	N	0.162	0.20262	-1.0364	0.18419	T	0.083	0.32700	T	10	0.010864854	0.00240	T	.	.	.	0.084	0.24469	.	.	0.453679287548	0.44989	0.739232985880035	0.73868	0.154374116842	0.17432	0.675354957581	0.63603	T	0.059421	0.31111	T	-0.384419	0.02921	T	-0.311342	0.43513	T	0.0426201060313368	0.04169	T	0.827217	0.49094	T	0.3151482	0.54228	0.30089948	0.56123	0.3151482	0.54228	0.30089948	0.56122	-4.753	0.34039	T	.	.	0.160	0.41310	B	.;.	.;.	3.271835	0.44790	22.0	0.98482361848760158	0.41990	0.63465	0.32098	D	AEFDGBHCI	0.382164	0.46415	N	-0.1587078793945	0.34866	1.995554	0.0139721358362734	0.40364	2.407628	0.999999999371329	0.74766	0.40479	0.06251	1	0.516746	0.08562	0	0.52208	0.10781	0	0.665054	0.64577	0	.	.	4.95	3.82	0.43153	1.645000	0.36855	.	.	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.9142:0.0:0.0858	14.175	0.65074	910	0.22284	MINDY deubiquitinase domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005035	0.000000	0.002717	0.000000	0.000000	0.000000	0.006098	0.015152	0.07143	835.44	34	chr15	58772221	.	C	T	835.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.552;DP=263;ExcessHet=0;FS=3.171;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.44;ReadPosRankSum=1.04;SOR=0.386	GT:AD:DP:GQ:PL	0/1:36,37:73:99:846,0,837	6	0	1	0
chr15	59227547	59227547	T	C	exonic	MYO1E	.	nonsynonymous SNV	MYO1E:NM_004998:exon7:c.A554G:p.D185G	Glomerulosclerosis, focal segmental, 6, Autosomal recessive	0	1500	22	0	0	22	0.00727995	.	.	.	491462	Inborn_genetic_diseases|not_provided|Focal_segmental_glomerulosclerosis_6|not_specified	MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0013589,MedGen:C3279905,OMIM:614131,Orphanet:656|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.667	0.0744304599391	0.0012	0.00199681	0.0025	9.61e-05	0.0004	0	0.0002	0.0021	0.0055	0.0091	0.0023544	364	154602	rs141565214	0.0017	0.0017	0.0015	0.0019	0.0080	0.0016	0.0016	0.0075	0.0073	0.0003	0.0010	0.0050	2.519e-05	9.36e-05	0.0035	0.0013	0.0022	0.0080	0.0012	0.0012	0.0012	0.0012	0.0060	0.0011	0.0010	0.0043	0.0037	0.0002	0.0033	0.0005	0.0043	0.0002	9.411e-05	0.0068	0.0017	0.0009	0.0060	0.326	0.13306	T	0.469	0.19721	T	0.866	0.47610	P	0.593	0.50536	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.32	0.33002	L	-2.21	0.86963	D	-4.4	0.84246	D	0.834	0.82964	0.108	0.84331	D	0.632	0.87110	D	10	0.021706969	0.00525	T	0.07443	0.72040	D	0.667	0.87625	.	.	0.912824647196	0.91194	0.740584323720885	0.74003	0.750666835557	0.63765	0.818154335022	0.84745	D	0.704432	0.91517	D	-0.0477703	0.44786	T	0.163732	0.81033	D	0.0309252870108907	0.02134	T	0.970703	0.90433	D	0.68726736	0.77363	0.6976197	0.82191	0.7964707	0.83683	0.6917096	0.81858	-13.019	0.89443	D	.	.	0.678	0.72066	P	.;.	.;.	4.978052	0.82433	27.8	0.99691227329691356	0.79977	0.98504	0.83480	D	AEFDGBI	0.920516	0.89261	D	0.539640596779245	0.69453	5.359138	0.611501830407546	0.75774	6.370387	0.999999999999793	0.74766	0.722319	0.85440	0	0.724815	0.89359	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	6.02	6.02	0.97559	8.017000	0.88732	6.211000	0.55013	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.0:1.0	16.545	0.84275	391	0.83213	Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class I myosin, motor domain;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003525	0.005051	0.000000	0.000000	0.000000	0.000000	0.006098	0.011364	0.07143	575.44	34	chr15	59227547	.	T	C	575.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.59;DP=225;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.7;ReadPosRankSum=-0.28;SOR=0.859	GT:AD:DP:GQ:PL	0/1:18,24:42:99:586,0,349	6	0	1	0
chr15	65624503	65624503	G	C	exonic	SLC24A1	.	nonsynonymous SNV	SLC24A1:NM_001301031:exon1:c.G423C:p.K141N,SLC24A1:NM_001301032:exon1:c.G423C:p.K141N,SLC24A1:NM_004727:exon2:c.G423C:p.K141N,SLC24A1:NM_001301033:exon4:c.G423C:p.K141N	Night blindness, congenital stationary (complete), 1D, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.0437088708563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0098	0.0002	0.0001	0.0002	0.0001	0.0001	0.0002	0.0002	0.0002	0	7.768e-05	0	0	0	0.0002	8.519e-05	4.757e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.961	0.70482	D	0.036487	0.24515	N	0.289027	1	0.08975	N	1.83	0.48079	L	-0.39	0.72125	T	-1.89	0.44094	N	0.193	0.26957	-0.6646	0.62072	T	0.376	0.73370	T	10	0.14750645	0.27949	T	0.043709	0.61120	D	0.071	0.20720	0.248	0.18447	0.814655732074	0.81291	0.06411332316461787	0.06350	0.277029944497	0.30173	0.317594438791	0.13056	T	0.022452	0.58404	T	-0.167159	0.25664	T	-0.477889	0.24671	T	0.523743510246277	0.33503	D	0.830817	0.50934	T	0.14003113	0.32323	0.15122224	0.35631	0.14003113	0.32323	0.15122224	0.35630	-5.061	0.37611	T	.	.	0.386	0.58803	A	.;.;.;.;.;.	.;.;.;.;.;.	1.694742	0.21594	15.27	0.99300094975893183	0.58577	0.11248	0.16507	N	AEFBI	0.045447	0.07435	N	-0.329018778326971	0.28049	1.543991	-0.502545089104272	0.22083	1.197762	0.0106939354388256	0.12067	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	4.78	2.88	0.32617	1.145000	0.31189	2.573000	0.33375	-0.106000	0.15538	0.012000	0.18695	0.972000	0.29809	0.129000	0.19529	0.2157:0.0:0.7843:0.0	6.818	0.23027	605	0.67457	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	216.82	105	chr15	65624503	.	G	C	216.82	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.174;DP=357;ExcessHet=0.4139;FS=149.765;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=1.25;ReadPosRankSum=3.25;SOR=7.111	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:48,20:68:99:0|1:65624503_G_C:173,0,1511:65624503	5	0	1	1
chr15	70892204	70892204	A	-	exonic	THAP10	.	frameshift deletion	THAP10:NM_020147:exon1:c.69delT:p.K25Rfs*55	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.146e-05	0	0.0002	0	0	0	0.0021	0	1.29e-05	2	154602	rs745404163	3.097e-05	3.078e-05	1.094e-05	5.125e-05	0.0005	2.361e-05	2.107e-05	0.0004	0.0003	0	0	0	0	0	0	1.805e-06	1.666e-05	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	426.23	34	chr15	70892203	.	GA	G	426.23	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.37;DP=219;ExcessHet=0;FS=3.073;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.92;ReadPosRankSum=-1.175;SOR=0.313	GT:AD:DP:GQ:PL	0/1:18,15:33:99:436,0,541	5	0	1	1
chr15	72775015	72775015	G	A	exonic	ADPGK	.	nonsynonymous SNV	ADPGK:NM_001365225:exon2:c.C316T:p.H106Y,ADPGK:NM_001365227:exon2:c.C316T:p.H106Y,ADPGK:NM_001365228:exon2:c.C316T:p.H106Y,ADPGK:NM_031284:exon2:c.C316T:p.H106Y	.	431	1088	3	0	0	3	0.00137678	.	.	.	3259418	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.383	0.0128883505647	.	.	8.293e-06	0	0	0	0	1.5e-05	0	0	6.5e-06	1	154602	rs771171646	3.489e-05	3.489e-05	3.811e-05	3.163e-05	0.0066	2.697e-05	2.438e-05	0.0049	0.0044	8.961e-05	0	0	0	0	0.0066	5.396e-06	6.623e-05	0	6.57e-05	6.563e-05	3.857e-05	9.407e-05	0.0001	3.516e-05	2.616e-05	2.261e-05	9.07e-06	2.409e-05	0	0.0001	0	0	0	0.0171	0	0.0009	0	0.002	0.72154	D	0.065	0.44702	T	1.0	0.90584	D	0.977	0.73820	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.36	0.67893	M	0.9	0.45248	T	-4.05	0.74504	D	0.831	0.82660	-0.7480	0.58040	T	0.261	0.63186	T	10	0.8906876	0.88410	D	0.012888	0.31852	T	0.383	0.70029	0.716	0.85141	0.837703744324	0.83615	0.8661617535242074	0.86581	0.923789402287	0.71561	0.582443356514	0.50429	T	.	.	.	0.104863	0.64814	D	-0.0871474	0.64376	T	0.979736745357513	0.72985	D	0.927707	0.73352	D	.	.	.	.	.	.	.	.	-6.761	0.52268	T	.	.	0.134	0.29088	B	.	.	4.837287	0.78940	27.0	0.99845148310267029	0.92489	0.98194	0.80421	D	AEFDGBHCI	0.901308	0.84785	D	0.820679222066565	0.87382	9.198425	0.810808147297734	0.90534	10.45165	1.0	0.98316	0.706548	0.73137	0	0.696144	0.67643	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.81	5.81	0.92413	9.821000	0.98294	11.705000	0.94560	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.0:1.0:0.0	20.089	0.97808	401	0.82673	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005539	0.005051	0.008152	0.005848	0.000000	0.034483	0.000000	0.000000	0.07143	706.45	35	chr15	72775015	.	G	A	706.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.132;DP=266;ExcessHet=0;FS=1.004;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.39;ReadPosRankSum=-0.08;SOR=0.869	GT:AD:DP:GQ:PL	0/1:26,31:57:99:717,0,573	6	0	1	0
chr15	76775055	76775055	T	C	exonic	SCAPER	.	nonsynonymous SNV	SCAPER:NM_001145923:exon9:c.A97G:p.T33A,SCAPER:NM_020843:exon9:c.A835G:p.T279A,SCAPER:NM_001353009:exon10:c.A835G:p.T279A,SCAPER:NM_001353010:exon10:c.A433G:p.T145A,SCAPER:NM_001353011:exon10:c.A433G:p.T145A,SCAPER:NM_001353012:exon10:c.A433G:p.T145A	.	11	1502	9	0	0	9	0.00298706	.	.	.	703347	Inborn_genetic_diseases|not_provided|SCAPER-related_disorder	MeSH:D030342,MedGen:C0950123|MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.009	0.00216633149002	0.0010	0.000998403	0.0018	0.0002	0.0022	0	0.0005	0.0024	0.0078	0.0009	0.0016106	249	154602	rs142461932	0.0015	0.0015	0.0015	0.0016	0.0029	0.0015	0.0015	0.0020	0.0018	0.0002	0.0023	0.0008	0	0.0002	0.0029	0.0017	0.0021	0.0011	0.0012	0.0012	0.0011	0.0013	0.0020	0.0010	0.0010	0.0015	0.0015	0.0002	0	0.0020	0.0009	0	9.414e-05	0	0.0018	0.0024	0.0010	0.194	0.29288	T	0.876	0.03259	T	.	.	.	.	.	.	0.008470	0.30825	N	0.393724	0.999927	0.20203	N	0.955	0.23872	L	2.02	0.21119	T	-0.81	0.58085	N	0.137	0.13484	-1.0196	0.23845	T	0.037	0.16116	T	10	0.0055835843	0.00123	T	0.002166	0.04043	T	0.009	0.00846	.	.	0.183819452728	0.17975	0.13573579862759524	0.13497	0.265220192054	0.29077	0.257136881351	0.04556	T	0.005255	0.06335	T	-0.563665	0.00241	T	-0.578437	0.14684	T	0.00344823356435422	0.00036	T	0.642236	0.25428	T	0.055332296	0.10739	0.036990393	0.03257	0.06158322	0.12769	0.04553618	0.06147	-3.407	0.15150	T	.	.	0.058	0.09045	B	.;.;.;.;.;.	.;.;.;.;.;.	0.968118	0.13449	9.959	0.84320016651281093	0.15223	0.69562	0.34237	D	AEFBI	0.099998	0.20116	N	-0.388089689049154	0.25892	1.408984	-0.277658732681704	0.28836	1.610878	0.0852716705173798	0.15977	0.638212	0.43195	0	0.670034	0.63936	0	0.653264	0.51672	0	0.567892	0.33627	0	.	.	5.76	2.17	0.26736	0.989000	0.29229	1.413000	0.26297	0.665000	0.62972	0.951000	0.33123	0.915000	0.28207	0.928000	0.46473	0.1396:0.2424:0.0:0.618	4.136	0.09638	262	0.89730	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.006546	0.010101	0.006793	0.002924	0.000000	0.000000	0.009146	0.000000	0.07143	771.44	35	chr15	76775055	.	T	C	771.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.721;DP=242;ExcessHet=0;FS=1.147;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.29;ReadPosRankSum=0.542;SOR=0.437	GT:AD:DP:GQ:PL	0/1:21,33:54:99:782,0,492	6	0	1	0
chr15	76941635	76941635	A	G	splicing	RCN2	NM_001271837:exon4:c.448-2A>G	.	.	.	.	.	.	.	.	.	.	0.0003	0.004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000798722	0.0033	0.0011	0	0	0.0025	0.0015	0	0.0054	0.0005821	90	154602	rs202241868	0.0023	0.0023	0.0022	0.0024	0.0044	0.0022	0.0022	0.0039	0.0038	0.0003	0.0012	4.243e-05	0	0.0017	0.0021	0.0024	0.0021	0.0044	0.0015	0.0015	0.0016	0.0014	0.0027	0.0013	0.0013	0.0021	0.0020	0.0004	0	0.0014	0	0	0.0009	0	0.0024	0.0019	0.0027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.99972	0.28526	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.565199	0.00236	T	-0.58383	0.14203	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.983028	0.13607	10.14	0.85218027709295974	0.15757	0.05748	0.11676	N	AEFGBCI	.	.	.	-0.417964193557242	0.24839	1.344085	-0.516406543556189	0.21708	1.175592	0.090812007274861	0.16119	0.078448	0.01964	0	0.090787	0.02525	0	0.083675	0.02720	0	0.109439	0.03173	0	0.161255	0.28192	4.79	1.18	0.20058	0.576000	0.23446	-0.954000	0.06803	0.691000	0.84096	0.029000	0.20367	0.000000	0.08366	0.895000	0.43227	0.3864:0.0:0.1123:0.5013	3.724	0.07997	294	0.88270	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	55.49	19	chr15	76941635	.	A	G	55.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.248;DP=169;ExcessHet=0;FS=2.398;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=5.04;ReadPosRankSum=1.92;SOR=0.223	GT:AD:DP:GQ:PL	0/1:7,4:11:66:66,0,179	6	0	1	0
chr15	78617072	78617072	C	T	exonic	CHRNA3	.	nonsynonymous SNV	CHRNA3:NM_000743:exon4:c.G329A:p.R110H,CHRNA3:NM_001166694:exon4:c.G329A:p.R110H	.	418	1103	1	0	0	1	0.000453104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.572	0.0558147441227	0.0004	0.000599042	0.0003	0	8.837e-05	0	0.0003	0.0005	0	0.0002	0.0003105	48	154602	rs77574318	0.0003	0.0003	0.0003	0.0003	0.0004	0.0003	0.0003	0.0003	0.0003	0	0.0001	0.0004	0	5.629e-05	0.0003	0.0004	0.0001	8.117e-05	0.0003	0.0003	0.0003	0.0003	0.0005	0.0002	0.0002	0.0003	0.0003	4.811e-05	0	0.0005	0.0009	0.0002	0	0	0.0004	0	0	0.308	0.14111	T	0.181	0.29346	T	0.244	0.31025	B	0.096	0.30765	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.865	0.49290	L	-1.4	0.80474	T	-4.17	0.75456	D	0.287	0.32921	-0.3234	0.74327	T	0.445	0.78179	T	10	0.11771971	0.22239	T	0.055815	0.66374	D	0.572	0.82629	.	.	0.833541382194	0.83195	0.49609173910620974	0.49530	0.343545844628	0.36281	0.363038569689	0.19828	T	0.779506	0.94166	D	0.0130387	0.53439	T	0.0971088	0.76716	D	0.364993631839752	0.27603	T	0.891911	0.63166	D	0.2779579	0.50851	0.27701715	0.53651	0.2779579	0.50851	0.27701715	0.53650	-6.613	0.51153	T	.	.	0.421	0.60746	A	.;.	.;.	3.658569	0.51965	23.2	0.99747664995849539	0.84002	0.94949	0.62892	D	AEFDBI	0.718125	0.66942	D	0.13972444198226	0.48325	3.04626	0.264681621074951	0.53489	3.517558	0.999998856513573	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.67	4.72	0.59248	4.130000	0.57720	1.051000	0.23638	0.599000	0.40250	0.999000	0.42656	0.502000	0.25210	0.909000	0.44452	0.0:0.8683:0.1316:0.0	16.358	0.83076	828	0.39726	.;Neurotransmitter-gated ion-channel ligand-binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	776.44	33	chr15	78617072	.	C	T	776.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.31;DP=321;ExcessHet=0;FS=2.239;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.39;ReadPosRankSum=-0.508;SOR=1.112	GT:AD:DP:GQ:PL	0/1:26,32:58:99:787,0,541	6	0	1	0
chr15	78777549	78777549	C	G	exonic	ADAMTS7	.	nonsynonymous SNV	ADAMTS7:NM_014272:exon9:c.G1362C:p.K454N	.	411	1105	6	0	0	6	0.00270758	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.00331826776372	0.0002	0.000399361	0.0007	0.0001	0	0	0	0.0002	0.0018	0.0039	0.0004334	67	154602	rs368625769	0.0003	0.0003	0.0003	0.0004	0.0037	0.0003	0.0003	0.0033	0.0032	8.979e-05	2.273e-05	0	0	0	0.0023	0.0001	0.0002	0.0037	0.0002	0.0002	0.0001	0.0004	0.0043	0.0002	0.0002	0.0029	0.0024	0	0	0	0	0	0	0.0068	0.0002	0	0.0043	0.04	0.42199	D	0.06	0.45744	T	0.326	0.33151	B	0.065	0.27321	B	0.002945	0.35672	U	0.218683	1	0.08975	N	1.705	0.44259	L	3.85	0.03650	T	-3.27	0.65512	D	0.295	0.33360	-0.9804	0.34909	T	0.011	0.03949	T	10	0.0054985583	0.00121	T	0.003318	0.07390	T	0.023	0.04649	0.494	0.58206	0.301122078929	0.29733	0.585153508337659	0.58445	0.246319457913	0.27172	0.418677449226	0.27655	T	0.052872	0.29285	T	-0.614502	0.00119	T	-0.65883	0.08346	T	0.0160776397149462	0.00386	T	0.586041	0.21384	T	0.3993194	0.60685	0.20948091	0.45295	0.3993194	0.60685	0.20948091	0.45294	-11.05	0.79931	D	.	.	0.253	0.48787	B	.	.	2.208507	0.28174	17.71	0.95620179880521328	0.27386	0.07140	0.13165	N	AEFBI	0.083281	0.16870	N	-0.693907276902492	0.16194	0.822901	-0.791269864258685	0.14709	0.7699659	0.739654559118932	0.23190	0.634777	0.41761	0	0.588015	0.36545	0	0.779548	0.98927	0	0.645665	0.59343	0	.	.	4.02	0.617	0.16794	-0.122000	0.10602	0.317000	0.17144	0.515000	0.23462	0.098000	0.22752	0.928000	0.28476	0.426000	0.27362	0.1701:0.3459:0.3742:0.1098	2.658	0.04712	493	0.76500	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000508	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003817	0.07143	380.49	37	chr15	78777549	.	C	G	380.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.438;DP=230;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.57;ReadPosRankSum=2.04;SOR=0.781	GT:AD:DP:GQ:PL	0/1:20,16:36:99:391,0,515	6	0	1	0
chr15	80979281	80979281	C	T	exonic	MESD	.	nonsynonymous SNV	MESD:NM_015154:exon3:c.G643A:p.D215N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.00374647076671	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.84e-07	0	1.375e-06	1.159e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.168	0.23007	T	0.033	0.53072	D	0.003	0.11197	B	0.005	0.11217	B	0.735015	0.06393	N	1.113020	1	0.08975	N	0.69	0.16971	N	.	.	.	-0.65	0.18877	N	0.07	0.04307	-1.0125	0.26133	T	0.063	0.26172	T	9	0.06306937	0.08161	T	0.003746	0.08682	T	0.043	0.11576	0.339	0.32979	0.128874641272	0.12493	0.09925729230670419	0.09856	0.150817111893	0.17009	0.336606562138	0.15930	T	0.174057	0.52315	T	-0.302098	0.08464	T	-0.671719	0.07498	T	0.096747561527059	0.11995	T	0.676232	0.28483	T	0.095348746	0.22439	0.046599172	0.06530	0.095348746	0.22438	0.046599172	0.06530	-3.729	0.19747	T	.	.	0.065	0.01884	B	.;.	.;.	1.688363	0.21515	15.23	0.98883705611896733	0.47877	0.35702	0.25363	N	AEFBI	0.116050	0.22792	N	-0.886794806833915	0.11156	0.5368538	-0.856471271489746	0.13132	0.6795677	0.996541291354058	0.34819	0.722319	0.85440	0	0.702456	0.74545	0	0.709663	0.75317	0	0.735409	0.98432	0	.	.	5.07	1.12	0.19700	0.657000	0.24647	-0.506000	0.08774	0.599000	0.40250	0.228000	0.24622	0.000000	0.08366	0.237000	0.22922	0.0:0.6053:0.0:0.3947	7.887	0.28822	958	0.09170	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	94.83	64	chr15	80979281	.	C	T	94.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-3.327;DP=297;ExcessHet=0;FS=99.147;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=1.86;ReadPosRankSum=0.7;SOR=7.222	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:41,10:51:99:0|1:80979279_A_G:105,0,1295:80979279	6	0	1	0
chr15	82345027	82345110	AGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACAC	-	exonic	GOLGA6L10	.	nonframeshift deletion	GOLGA6L10:NM_001164465:exon6:c.750_833del:p.R286_L313del,GOLGA6L10:NM_001322400:exon6:c.750_833del:p.R251_L278del	.	637	825	3	0	57	60	0.00181488	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0017	0.0007	0.0007	0.0028	0.0007	0.0006	0.0020	0.0017	0.0007	0.0010	0.0026	0.0028	0.0016	0.0008	0.0006	0.0014	0.0005	0.0006	0.0016	0.0005	0.0007	0.0028	0.0004	0.0004	0.0011	0.0007	0.0005	0	0.0003	0.0005	0	0.0017	0	0.0004	0.0010	0.0028	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	127.85	42	chr15	82345026	.	TAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACAC	T	127.85	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.24;DP=778;ExcessHet=1.1394;FS=15.248;MLEAC=1;MLEAF=0.071;MQ=38.5;MQRankSum=-0.364;QD=0.28;ReadPosRankSum=-1.257;SOR=0.958	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:50,9:59:99:.:.:138,0,1998:.	6	0	1	0
chr15	82345046	82345046	G	0	exonic	GOLGA6L10	.	.	.	.	649	829	42	0	2	44	0.0247059	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.375	31.71	58	chr15	82345046	.	G	*	31.71	.	AC=3;AF=0.375;AN=8;BaseQRankSum=-0.967;DP=830;ExcessHet=2.5225;FS=15.134;MLEAC=4;MLEAF=0.5;MQ=22.34;MQRankSum=-0.967;QD=0.07;ReadPosRankSum=0;SOR=0.949	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:50,9:59:99:.:.:138,0,1998:.	1	0	3	3
chr15	82345087	82345087	C	0	exonic	GOLGA6L10	.	.	.	.	748	741	8	0	25	33	0.00536913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	607.58	71	chr15	82345087	.	C	*	607.58	.	AC=2;AF=0.143;AN=14;BaseQRankSum=2.77;DP=790;ExcessHet=1.1394;FS=11.916;MLEAC=2;MLEAF=0.143;MQ=37.72;MQRankSum=-1.074;QD=1.34;ReadPosRankSum=-2.863;SOR=0.756	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:50,9:59:99:.:.:138,0,1998:.	5	0	2	0
chr15	82347615	82347615	C	T	exonic	GOLGA6L10	.	stopgain	GOLGA6L10:NM_001164465:exon2:c.G99A:p.W33X,GOLGA6L10:NM_001322400:exon2:c.G99A:p.W33X	.	410	1107	5	0	0	5	0.00225327	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1466313821	9.284e-05	0.0005	8.898e-05	9.674e-05	0.0002	8e-05	7.471e-05	0.0001	0.0001	0	0.0002	0	0	0	0	9e-05	0.0001	0.0002	0.0001	0.0003	0.0001	0.0001	0.0008	8.659e-05	7.252e-05	0.0003	0.0002	9.629e-05	0	0	0	0	0	0	0.0002	0	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109	0.10340	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00398868	0.52202	T	-0.232047	0.51573	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	3.536415	0.49643	22.8	0.9031175888059354	0.19578	0.00208	0.01187	N	AEFI	0.022741	0.01175	N	.	.	.	.	.	.	1.09648973830877E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	.	.	.	-0.127000	0.10524	-0.272000	0.10340	0.221000	0.18078	0.052000	0.21487	0.002000	0.18203	0.002000	0.04165	.	.	.	809	0.43032	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	122.44	35	chr15	82347615	.	C	T	122.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.095;DP=306;ExcessHet=0;FS=3.62;MLEAC=1;MLEAF=0.071;MQ=48.12;MQRankSum=-0.093;QD=1.04;ReadPosRankSum=0.065;SOR=1.23	GT:AD:DP:GQ:PL	0/1:101,17:118:99:133,0,2490	6	0	1	0
chr15	84512452	84512452	C	0	exonic	GOLGA6L4	.	.	.	.	671	744	60	0	47	107	0.0387597	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	720.63	34	chr15	84512452	.	C	*	720.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.834;DP=501;ExcessHet=0.3476;FS=3.287;MLEAC=1;MLEAF=0.071;MQ=43.5;MQRankSum=2.22;QD=2.61;ReadPosRankSum=-0.882;SOR=0.496	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:110,16:131:99:1|0:84512431_TGTAGCCTCTCCTCCTGTTCAC_T:392,0,3830:84512431	6	0	1	0
chr15	89792255	89792256	GA	-	exonic	ANPEP	.	frameshift deletion	ANPEP:NM_001381924:exon17:c.2432_2433del:p.F811Cfs*13,ANPEP:NM_001150:exon18:c.2432_2433del:p.F811Cfs*13,ANPEP:NM_001381923:exon18:c.2432_2433del:p.F811Cfs*13	.	407	1114	1	0	0	1	0.000448632	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1168.41	51	chr15	89792254	.	CGA	C	1168.41	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.72;DP=320;ExcessHet=0;FS=2.282;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=21.24;ReadPosRankSum=-1.006;SOR=0.655	GT:AD:DP:GQ:PL	0/1:25,30:55:99:1179,0,959	6	0	1	0
chr15	91226325	91226325	G	A	exonic	SV2B	.	nonsynonymous SNV	SV2B:NM_001323031:exon2:c.G62A:p.R21H,SV2B:NM_001323032:exon2:c.G62A:p.R21H,SV2B:NM_001323033:exon2:c.G62A:p.R21H,SV2B:NM_001323034:exon2:c.G62A:p.R21H,SV2B:NM_001323038:exon2:c.G62A:p.R21H,SV2B:NM_001323039:exon2:c.G62A:p.R21H,SV2B:NM_001323037:exon3:c.G62A:p.R21H,SV2B:NM_014848:exon3:c.G62A:p.R21H	.	411	1109	2	0	0	2	0.000900901	.	.	.	3323849	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.035	0.00444705977779	.	.	9.89e-05	0	0	0.0007	0	1.499e-05	0	0.0003	7.76e-05	12	154602	rs753020617	5.472e-05	5.472e-05	3.403e-05	7.563e-05	0.0006	4.477e-05	4.147e-05	0.0005	0.0004	5.974e-05	0	0	0.0004	0	0	6.295e-06	8.279e-05	0.0006	1.314e-05	1.312e-05	0	2.686e-05	0.0004	2.18e-06	8.2e-07	7.312e-05	3.037e-05	0	0	0	0	0	0	0	0	0	0.0004	0.024	0.47745	D	0.116	0.36497	T	0.001	0.07471	B	0.002	0.06944	B	0.001909	0.37691	N	0.265891	0.921838	0.81001	D	1.83	0.48079	L	1.29	0.35775	T	-0.71	0.20145	N	0.119	0.11483	-1.0577	0.12337	T	0.072	0.29098	T	10	0.031678915	0.01306	T	0.004447	0.10906	T	0.035	0.08770	0.245	0.17984	0.147330786459	0.14319	0.2703326225367992	0.26946	0.354932647946	0.37257	0.323863536119	0.14005	T	0.09078	0.38657	T	-0.423274	0.01631	T	-0.515779	0.20724	T	0.0482736136039326	0.05193	T	0.752425	0.37456	T	0.07898492	0.18019	0.06567431	0.13346	0.07898492	0.18019	0.06567431	0.13345	-3.649	0.18568	T	.	.	0.068	0.02670	B	.;.	.;.	1.627520	0.20784	14.91	0.99778924249942935	0.86606	0.90771	0.52229	D	AEFBI	0.309154	0.41554	N	-0.304548992420756	0.28974	1.602751	-0.168668265875852	0.32696	1.862772	3.21063580831155E-4	0.06498	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.71	3.81	0.43020	0.996000	0.29320	0.749000	0.21222	0.676000	0.76740	0.167000	0.23894	0.033000	0.21346	0.952000	0.50033	0.0741:0.1358:0.7901:0.0	10.359	0.43163	777	0.48198	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1038.44	33	chr15	91226325	.	G	A	1038.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.339;DP=277;ExcessHet=0;FS=0.798;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.67;ReadPosRankSum=-0.431;SOR=0.563	GT:AD:DP:GQ:PL	0/1:43,46:89:99:1049,0,1009	6	0	1	0
chr15	99131992	99131992	C	T	exonic	SYNM	.	nonsynonymous SNV	SYNM:NM_145728:exon4:c.C3632T:p.S1211F	.	428	1078	15	1	0	17	0.00782329	.	.	.	726381	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.135	.	0.0051	0.00259585	0.0046	0.0017	0.0027	0	0.0018	0.0071	0.0056	0.0013	0.0046636	721	154602	rs137888307	0.0059	0.0059	0.0060	0.0059	0.0068	0.0058	0.0058	0.0066	0.0066	0.0008	0.0034	0.0065	0	0.0035	0.0050	0.0068	0.0062	0.0021	0.0046	0.0046	0.0049	0.0043	0.0075	0.0043	0.0042	0.0069	0.0067	0.0011	0	0.0044	0.0078	0	0.0031	0.0034	0.0075	0.0043	0.0019	.	.	.	0.002	0.79402	D	.	.	.	.	.	.	.	.	.	.	1	0.29894	N	.	.	.	.	.	.	.	.	.	0.163	0.17140	-0.3162	0.74528	T	0.399	0.75073	T	8	0.004244417	0.00085	T	.	.	.	0.135	0.36572	.	.	0.159798565429	0.15598	0.21998109347136463	0.21914	0.183235020665	0.20612	0.30905264616	0.11764	T	.	.	.	-0.501345	0.00562	T	-0.483529	0.24072	T	0.0122539995941106	0.00198	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.25721	B	.	.	2.152806	0.27425	17.46	0.99678428438013367	0.79108	0.41972	0.26775	N	AEFDBHCI	.	.	.	-0.70645215604051	0.15840	0.80187	-0.747553444104223	0.15782	0.831761	0.999999998910442	0.74766	0.651	0.46895	0	0.588066	0.40923	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	4.46	3.45	0.38602	0.781000	0.26435	1.148000	0.24458	0.599000	0.40250	0.000000	0.06391	0.007000	0.19602	0.002000	0.04165	0.0:0.8906:0.0:0.1094	10.178	0.42124	981	0.03995	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.007772	0.005051	0.012228	0.003497	0.000000	0.000000	0.009146	0.003788	0.07143	414.49	38	chr15	99131992	.	C	T	414.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.929;DP=252;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.91;ReadPosRankSum=1.43;SOR=0.527	GT:AD:DP:GQ:PL	0/1:20,18:38:99:425,0,477	6	0	1	0
chr16	1222655	1222655	C	T	exonic	TPSG1	.	nonsynonymous SNV	TPSG1:NM_012467:exon4:c.G508A:p.G170R	.	420	1087	14	1	0	16	0.00730594	.	.	.	3547248	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.415	.	0.0045	0.00259585	0.0057	0.0009	0.0018	0	0.0132	0.0073	0.0115	0.0041	0.005291	818	154602	rs117769620	0.0065	0.0064	0.0065	0.0065	0.0070	0.0063	0.0063	0.0069	0.0069	0.0010	0.0027	0.0042	0	0.0119	0.0045	0.0070	0.0050	0.0040	0.0053	0.0053	0.0050	0.0057	0.0076	0.0050	0.0049	0.0071	0.0069	0.0009	0.0011	0.0039	0.0052	0.0006	0.0140	0	0.0076	0.0043	0.0031	0.177	0.22224	T	0.158	0.31629	T	.	.	.	.	.	.	.	.	.	.	0.963972	0.38379	D	.	.	.	-3.28	0.93691	D	-2.04	0.46842	N	0.213	0.23758	0.229	0.86402	D	0.691	0.89353	D	9	0.006044209	0.00136	T	.	.	.	0.415	0.72555	0.381	0.39807	0.785410752037	0.78342	0.4606196750680351	0.45979	0.00263683917289	0.00224	0.426082849503	0.28673	T	.	.	.	-0.243385	0.14921	T	-0.111994	0.62451	T	0.00772634738732492	0.00090	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.234	0.46768	B	.	.	1.493604	0.19208	14.15	0.97134166511576381	0.32512	0.13353	0.17808	N	AEFBI	0.130872	0.24959	N	-0.218365182857331	0.32381	1.825505	-0.379029701159621	0.25623	1.410239	0.0234896658822606	0.13510	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	3.47	2.48	0.29194	0.088000	0.14821	-0.540000	0.08588	0.597000	0.34315	0.000000	0.06391	0.000000	0.08366	0.119000	0.19126	0.0:0.8827:0.0:0.1173	9.161	0.36182	929	0.16858	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002548	0.000000	0.005464	0.000000	0.000000	0.000000	0.009375	0.000000	0.07143	321.63	25	chr16	1222655	.	C	T	321.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.11;DP=210;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.91;ReadPosRankSum=-0.121;SOR=0.804	GT:AD:DP:GQ:PL	0/1:13,14:27:99:332,0,319	6	0	1	0
chr16	1397277	1397277	A	0	exonic	UNKL	.	.	.	.	28	20	70	25	83	203	0.75	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.75	418.93	32	chr16	1397277	.	A	*	418.93	.	AC=9;AF=0.75;AN=12;DP=345;ExcessHet=0.4139;FS=0.651;MLEAC=10;MLEAF=0.833;MQ=60;QD=1.76;SOR=0.613	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:23,19:42:99:0|1:1397263_TCCCCGTGCTTCACACTGGGGCAGGGCGTGGACCTGGGGATGAGGAGGTGTCAGGGGGACACAGAGGACTTGGCTCCCCGCCCCCCAC_T:572,0,674:1397263	0	3	3	1
chr16	2088096	2088096	G	A	exonic	TSC2	.	nonsynonymous SNV	TSC2:NM_001318831:exon36:c.G4385A:p.R1462H,TSC2:NM_001318827:exon37:c.G4808A:p.R1603H,TSC2:NM_001318829:exon37:c.G4772A:p.R1591H,TSC2:NM_001077183:exon38:c.G4916A:p.R1639H,TSC2:NM_001318832:exon38:c.G4949A:p.R1650H,TSC2:NM_001363528:exon38:c.G4919A:p.R1640H,TSC2:NM_001114382:exon39:c.G5048A:p.R1683H,TSC2:NM_001370404:exon39:c.G4985A:p.R1662H,TSC2:NM_001370405:exon39:c.G4988A:p.R1663H,TSC2:NM_021055:exon39:c.G4988A:p.R1663H,TSC2:NM_000548:exon40:c.G5117A:p.R1706H	Lymphangioleiomyomatosis, somatic;Tuberous sclerosis-2, Autosomal dominant	0	1512	10	0	0	10	0.00329598	.	.	YES	58618	Tuberous_sclerosis_syndrome|Hereditary_cancer-predisposing_syndrome|Tuberous_sclerosis_2|not_provided|Ovarian_cancer|TSC2-related_disorder|Polycystic_kidney_disease,_adult_type	MONDO:MONDO:0001734,MedGen:C0041341,OMIM:PS191100,Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254,Orphanet:805|MedGen:C3661900|MONDO:MONDO:0008170,MedGen:C1140680,OMIM:167000,Orphanet:213500|.|MONDO:MONDO:0008263,MedGen:C3149841,OMIM:173900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.603	0.0700155671428	.	0.000199681	5.831e-05	0	0	0	0	6.097e-05	0.0011	0.0001	5.82e-05	9	154602	rs45517392	9.791e-05	9.919e-05	0.0001	9.221e-05	0.0005	8.451e-05	7.928e-05	0.0001	7.541e-05	0	0.0001	0	0	5.756e-05	0.0005	9.622e-05	0.0003	8.115e-05	7.221e-05	7.218e-05	8.992e-05	5.37e-05	0.0002	3.968e-05	3.125e-05	5.277e-05	2.833e-05	2.405e-05	0	0.0002	0	0	0	0	8.821e-05	0	0.0002	0.109	0.31532	T	0.043	0.50514	D	0.01	0.15535	B	0.007	0.12992	B	0.022613	0.26600	N	0.342750	0.992287	0.41604	D	1.095	0.27400	L	-3.59	0.94975	D	-1.59	0.45949	N	0.58	0.60156	0.105	0.84272	D	0.672	0.88650	D	10	0.21449265	0.37973	T	0.070016	0.70887	D	0.603	0.84345	0.51	0.60693	0.967183185669	0.96683	0.4366113362109103	0.43578	.	.	0.342073023319	0.16748	T	0.845342	0.96430	D	0.0768075	0.61665	D	0.141852	0.79665	D	0.0560189597308636	0.06528	T	0.90141	0.67446	D	0.14639221	0.33515	0.06258713	0.12267	0.19125472	0.40745	0.0706193	0.15024	-6.304	0.49992	T	0.23275594817303685	0.31504	0.075	0.14797	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	3.530993	0.49542	22.8	0.99446760388939814	0.65071	0.75809	0.37137	D	AEFDGBCI	0.411570	0.48199	N	-0.142331394342387	0.35562	2.044224	0.00356565001258005	0.39880	2.371379	0.999999949781252	0.74766	0.67177	0.52595	0	0.643519	0.57511	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	4.65	4.65	0.57626	3.502000	0.53092	4.460000	0.43455	0.614000	0.49286	1.000000	0.71638	1.000000	0.68203	0.511000	0.29267	0.2457:0.0:0.7543:0.0	6.065	0.19085	779	0.47767	Rap GTPase activating protein domain|Rap GTPase activating protein domain;Rap GTPase activating protein domain|Rap GTPase activating protein domain;Rap GTPase activating protein domain|Rap GTPase activating protein domain;.;.;Rap GTPase activating protein domain|Rap GTPase activating protein domain;Rap GTPase activating protein domain|Rap GTPase activating protein domain;Rap GTPase activating protein domain|Rap GTPase activating protein domain;.;.;Rap GTPase activating protein domain|Rap GTPase activating protein domain;.;Rap GTPase activating protein domain|Rap GTPase activating protein domain;Rap GTPase activating protein domain|Rap GTPase activating protein domain;Rap GTPase activating protein domain|Rap GTPase activating protein domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	864.45	42	chr16	2088096	.	G	A	864.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.098;DP=280;ExcessHet=0;FS=4.17;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.42;ReadPosRankSum=-1.017;SOR=1.153	GT:AD:DP:GQ:PL	0/1:46,37:83:99:875,0,1186	6	0	1	0
chr16	2498269	2498269	A	G	exonic	TBC1D24	.	nonsynonymous SNV	TBC1D24:NM_020705:exon3:c.A997G:p.N333D,TBC1D24:NM_001199107:exon4:c.A1015G:p.N339D	DOOR syndrome, Autosomal recessive;Deafness , autosomal recessive 86, Autosomal recessive;Deafness, autosomal dominant 65, Autosomal dominant;Epileptic encephalopathy, early infantile, 16, Autosomal recessive;Myoclonic epilepsy, infantile, familial, Autosomal recessive	0	1514	8	0	0	8	0.00263505	.	.	.	135987	Caused_by_mutation_in_the_TBC1_domain_family,_member_24|Developmental_and_epileptic_encephalopathy,_1|Autosomal_dominant_nonsyndromic_hearing_loss_65|Developmental_and_epileptic_encephalopathy,_16|DOORS_syndrome|Familial_infantile_myoclonic_epilepsy|Autosomal_recessive_nonsyndromic_hearing_loss_86|Rolandic_epilepsy-paroxysmal_exercise-induced_dystonia-writer's_cramp_syndrome|Inborn_genetic_diseases|not_specified|not_provided	MedGen:CN236805|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044,Orphanet:90635|MONDO:MONDO:0014133,MedGen:C3809173,OMIM:615338,Orphanet:293181,Orphanet:352596|MONDO:MONDO:0009079,MedGen:C0795934,OMIM:220500,Orphanet:3231,Orphanet:79500|MONDO:MONDO:0011506,MedGen:C0917800,OMIM:605021,Orphanet:352582|MONDO:MONDO:0013826,MedGen:C2829265,OMIM:614617,Orphanet:90636|MONDO:MONDO:0011970,MedGen:C1842531,OMIM:608105,Orphanet:163727|MeSH:D030342,MedGen:C0950123|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.079	0.0224450329948	.	0.000199681	0.0002	0	0.0002	0	0	0.0002	0.0016	0.0004	0.0001294	20	154602	rs574768683	8.908e-05	8.893e-05	7.496e-05	0.0001	0.0007	7.635e-05	7.179e-05	0.0005	0.0005	0	8.99e-05	3.84e-05	0	0	0.0007	3.871e-05	0.0003	0.0007	3.942e-05	3.938e-05	5.142e-05	2.688e-05	0.0002	1.715e-05	1.129e-05	.	.	0	0	6.539e-05	0	0.0002	0	0	1.471e-05	0.0009	0.0002	0.156	0.24090	T	0.183	0.29346	T	0.043	0.21573	B	0.056	0.26147	B	0.000000	0.84330	D	0.049072	0.999997	0.58761	D	2.245	0.63543	M	1.85	0.24472	T	-1.17	0.29933	N	0.569	0.59223	-1.0898	0.05565	T	0.079	0.31284	T	10	0.06048754	0.07437	T	0.022445	0.45340	T	0.079	0.23065	0.357	0.35897	0.714927017511	0.71242	0.5681514173713282	0.56743	0.388624941282	0.40126	0.551847457886	0.46119	T	0.006905	0.06335	T	-0.414461	0.01857	T	-0.47121	0.25385	T	0.0455463528633118	0.04701	T	0.772923	0.40417	T	0.26647803	0.49718	0.21272406	0.45753	0.26647803	0.49717	0.21272406	0.45752	-2.195	0.04016	T	0.339533876675239	0.43734	0.135	0.39134	B	.;.;.;.;.;.	.;.;.;.;.;.	3.373538	0.46632	22.3	0.95729288666771828	0.27667	0.99138	0.91786	D	AEFBIJ	0.857813	0.77523	D	0.070169884101363	0.45074	2.770199	0.204054564905116	0.50073	3.203131	0.999981054995233	0.51787	0.675385	0.55134	0	0.653731	0.59785	0	0.693117	0.63056	0	0.635551	0.53088	0	.	.	5.6	5.6	0.84997	6.261000	0.72470	11.152000	0.87379	0.747000	0.86732	1.000000	0.71638	1.000000	0.68203	0.774000	0.36673	1.0:0.0:0.0:0.0	14.627	0.68230	706	0.57215	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.000505	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	283.45	34	chr16	2498269	.	A	G	283.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.4;DP=214;ExcessHet=0;FS=1.323;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.46;ReadPosRankSum=-0.197;SOR=0.87	GT:AD:DP:GQ:PL	0/1:24,14:38:99:294,0,510	6	0	1	0
chr16	2798545	2798545	C	T	exonic	PRSS41	.	nonsynonymous SNV	PRSS41:NM_001354586:exon1:c.C61T:p.P21S	.	402	1112	8	0	0	8	0.00358423	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0037	0.0015	0	0	0	0.0099	0.0077	0.0010	0.0006145	95	154602	rs756773582	0.0010	0.0010	0.0010	0.0010	0.0044	0.0010	0.0010	0.0029	0.0025	0.0001	0.0007	0.0185	0	9.179e-05	0.0044	0.0007	0.0019	0.0009	0.0010	0.0010	0.0011	0.0010	0.0011	0.0009	0.0008	0.0007	0.0007	0.0002	0	0.0011	0.0179	0	0.0003	0	0.0009	0.0009	0.0008	.	.	.	.	.	.	0.198	0.29589	B	0.037	0.23121	B	.	.	.	.	.	.	.	2.255	0.64187	M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0078049004	0.00177	T	.	.	.	.	.	.	.	.	.	0.46102531465918634	0.46020	.	.	0.601210236549	0.53075	T	0.076314	0.35389	T	.	.	.	.	.	.	.	.	.	0.439856	0.12136	T	0.035383645	0.04153	0.06390067	0.12726	0.035383645	0.04153	0.06390067	0.12726	-4.593	0.32083	T	.	.	0.100	0.16929	B	.	.	0.753424	0.11232	7.862	0.79280523314063123	0.12671	0.05610	0.11516	N	AEFDBHCI	.	.	.	.	.	.	.	.	.	0.00714425141342811	0.11395	0.070351	0.01505	0	0.090787	0.02525	0	0.097195	0.03014	1	0.057841	0.00900	0	0.0450783	0.04177	2.7	1.59	0.22622	0.244000	0.17899	0.047000	0.13948	0.463000	0.21641	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.7037:0.2963:0.0	6.761	0.22725	516	0.74704	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	122.49	17	chr16	2798545	.	C	T	122.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.205;DP=96;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.14;ReadPosRankSum=-0.888;SOR=1.022	GT:AD:DP:GQ:PL	0/1:6,5:11:99:133,0,149	6	0	1	0
chr16	2799467	2799467	A	G	exonic	PRSS41	.	nonsynonymous SNV	PRSS41:NM_001354586:exon3:c.A478G:p.N160D	.	425	1088	9	0	0	9	0.00411899	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0020	0.000798722	0.0026	0.0004	0	0	0	0.0050	0.0041	0.0013	0.0006274	97	154602	rs192768989	0.0011	0.0010	0.0011	0.0011	0.0049	0.0010	0.0010	0.0035	0.0030	0.0001	0.0009	0.0188	0	0.0001	0.0049	0.0007	0.0021	0.0013	0.0011	0.0011	0.0011	0.0012	0.0016	0.0010	0.0009	0.0011	0.0010	0.0002	0	0.0016	0.0182	0	0.0003	0	0.0010	0.0009	0.0010	.	.	.	.	.	.	0.943	0.53072	P	0.739	0.55653	P	.	.	.	.	.	.	.	0.885	0.21608	L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004555404	0.00094	T	.	.	.	.	.	.	.	.	.	0.8861531642545919	0.88584	.	.	0.307435840368	0.11519	T	0.36385	0.72953	T	.	.	.	.	.	.	.	.	.	0.531447	0.17660	T	0.06646948	0.14306	0.1342713	0.32178	0.06646948	0.14306	0.1342713	0.32177	-7.526	0.57793	D	.	.	0.115	0.23005	B	.	.	1.230747	0.16252	12.42	0.68083136029113001	0.08550	0.71889	0.35210	D	AEFDGBHCI	.	.	.	.	.	.	.	.	.	0.999505634468401	0.40062	0.077785	0.01820	0	0.063388	0.01293	0	0.074216	0.02223	0	0.088932	0.02473	0	0.554365	0.40152	4.53	4.53	0.55009	2.265000	0.42968	-2.085000	0.04236	0.756000	0.94297	0.256000	0.24909	0.000000	0.08366	0.003000	0.05239	1.0:0.0:0.0:0.0	12.096	0.53057	513	0.74941	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002814	0.000000	0.008333	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	764.48	37	chr16	2799467	.	A	G	764.48	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.53;DP=311;ExcessHet=0;FS=1.57;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=6.22;ReadPosRankSum=0.216;SOR=0.701	GT:AD:DP:GQ:PL	0/1:85,38:123:99:775,0,2059	6	0	1	0
chr16	2820960	2820960	C	T	exonic	PRSS21	.	nonsynonymous SNV	PRSS21:NM_006799:exon5:c.C556T:p.P186S,PRSS21:NM_144956:exon5:c.C550T:p.P184S,PRSS21:NM_144957:exon5:c.C556T:p.P186S	.	410	1089	23	0	0	23	0.0104498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.241	.	0.0019	0.00299521	0.0031	0.0002	0.0003	0	0.0006	0.0029	0.0033	0.0104	0.002846	440	154602	rs145458572	0.0021	0.0021	0.0018	0.0023	0.0108	0.0020	0.0020	0.0102	0.0100	0.0001	0.0006	0.0264	0	0.0005	0.0083	0.0010	0.0035	0.0108	0.0018	0.0018	0.0017	0.0018	0.0097	0.0016	0.0015	0.0075	0.0067	0.0003	0	0.0008	0.0256	0	0.0006	0.0034	0.0014	0.0014	0.0097	0.018	0.50676	D	0.016	0.60972	D	0.878	0.48285	P	0.546	0.49068	P	.	.	.	.	1	0.08975	N	0.455	0.12820	N	-1.46	0.80983	T	-6.3	0.90771	D	0.31	0.34981	-0.7005	0.60414	T	0.358	0.72030	T	9	0.0046268404	0.00096	T	.	.	.	0.241	0.54641	.	.	0.758461003238	0.75627	0.5397952186582754	0.53904	0.0608772362246	0.06772	0.38820451498	0.23417	T	0.557618	0.85134	D	-0.332486	0.05925	T	-0.240974	0.50703	T	0.0601563427714356	0.07193	T	.	.	.	0.11250847	0.26580	0.18286486	0.41241	0.11250847	0.26580	0.18286486	0.41240	-8.028	0.66047	D	.	.	0.182	0.43517	B	.;.	.;.	2.187022	0.27882	17.61	0.99551586408465798	0.71148	0.14244	0.18300	N	AEFGBHCI	0.140409	0.26231	N	-0.493193280047539	0.22304	1.189977	-0.644826564799261	0.18347	0.9797162	0.988381457249832	0.31499	0.706298	0.61202	0	0.709663	0.81188	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	3.96	1.85	0.24418	1.680000	0.37224	0.586000	0.19767	0.587000	0.30956	0.655000	0.28216	0.098000	0.22634	0.010000	0.09038	0.1611:0.6427:0.1962:0.0	7.988	0.29385	514	0.74853	.;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004028	0.000000	0.004076	0.000000	0.000000	0.000000	0.012195	0.011364	0.07143	486.44	34	chr16	2820960	.	C	T	486.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.91;DP=253;ExcessHet=0;FS=2.707;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.13;ReadPosRankSum=-1.694;SOR=1.171	GT:AD:DP:GQ:PL	0/1:27,21:48:99:497,0,701	6	0	1	0
chr16	2855712	2855712	C	T	exonic	PRSS22	.	nonsynonymous SNV	PRSS22:NM_022119:exon4:c.G421A:p.D141N	.	415	1103	3	1	0	5	0.00226142	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.881	0.566271429208	.	.	0.0002	0	0	0	0	0	0	0.0017	0.0001811	28	154602	rs758552545	0.0001	0.0001	8.031e-05	0.0002	0.0017	0.0001	0.0001	0.0014	0.0014	0	0	0	0	0	0.0005	2.698e-05	0.0002	0.0017	1.971e-05	1.97e-05	0	4.034e-05	0.0006	5.24e-06	2.45e-06	0.0002	8.977e-05	0	0	0	0	0	0	0	0	0	0.0006	0.0	0.91255	D	0.0	0.92824	D	0.997	0.70673	D	0.996	0.84481	D	0.000036	0.55875	D	0.000000	1	0.81001	D	2.905	0.84014	M	-3.36	0.94067	D	-4.93	0.81755	D	0.753	0.75192	1.056	0.98239	D	0.916	0.97223	D	10	0.93874747	0.93202	D	0.566271	0.96060	D	0.881	0.96502	0.936	0.99075	0.953045386324	0.95254	0.989466728533498	0.98940	1.00121662946	0.74413	0.579710483551	0.50045	T	0.668946	0.90152	D	-0.133903	0.30867	T	0.0276181	0.72124	D	0.555653810501099	0.34690	D	.	.	.	0.7684707	0.81956	0.65886736	0.80018	0.7684707	0.81958	0.65886736	0.80019	-8.738	0.65994	D	.	.	0.788	0.76723	P	.	.	4.566198	0.72000	25.8	0.999014503325235	0.97350	0.98434	0.82737	D	AEFDBI	0.788432	0.71792	D	0.799199820824057	0.86054	8.764562	0.677503878321843	0.80673	7.351623	0.999953339614368	0.48110	0.646311	0.45356	0	0.59043	0.45803	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	4.48	4.48	0.53973	5.051000	0.64074	5.854000	0.50366	0.598000	0.34611	1.000000	0.71638	1.000000	0.68203	0.286000	0.24163	0.0:1.0:0.0:0.0	15.524	0.75625	840	0.37365	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.07143	585.49	33	chr16	2855712	.	C	T	585.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.13;DP=212;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=18.89;ReadPosRankSum=-1.374;SOR=0.622	GT:AD:DP:GQ:PL	0/1:10,21:31:99:596,0,250	6	0	1	0
chr16	3966931	3966931	C	T	exonic	ADCY9	.	nonsynonymous SNV	ADCY9:NM_001116:exon11:c.G2906A:p.R969H	.	424	1086	11	1	0	13	0.00594966	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.0220263285353	0.0024	0.000998403	0.0030	0.0004	0.0006	0	0.0021	0.0040	0.0011	0.0041	0.0028266	437	154602	rs141519764	0.0043	0.0043	0.0044	0.0042	0.0049	0.0042	0.0041	0.0048	0.0048	0.0007	0.0005	0.0011	2.519e-05	0.0027	0.0038	0.0049	0.0025	0.0043	0.0024	0.0024	0.0025	0.0023	0.0042	0.0022	0.0021	0.0038	0.0036	0.0008	0	0.0005	0.0017	0	0.0018	0	0.0042	0.0019	0.0033	0.129	0.26852	T	0.146	0.32891	T	0.0	0.02946	B	0.0	0.01387	B	0.451710	0.04819	N	1.279070	1	0.08975	N	-1.1	0.00987	N	-1.67	0.82806	D	-0.18	0.09796	N	0.018	0.00252	-0.8630	0.51046	T	0.248	0.61704	T	10	0.005517155	0.00122	T	0.022026	0.44874	T	0.158	0.41098	.	.	0.389676119804	0.38580	0.43503127525865926	0.43420	0.521912766462	0.49941	0.176036298275	0.00063	T	0.232991	0.59969	T	-0.563579	0.00242	T	-0.577191	0.14797	T	0.000746427757740348	0.00007	T	0.132987	0.01049	T	0.01840083	0.00361	0.024957554	0.00525	0.01840083	0.00361	0.024957554	0.00525	-4.029	0.24236	T	.	.	0.072	0.04316	B	.	.	-0.486938	0.01909	0.159	0.94667691793333741	0.25290	0.01727	0.05464	N	AEFBI	0.054329	0.09869	N	-1.36423328599246	0.02980	0.1324126	-1.42667796427062	0.02988	0.1385306	0.758767126015653	0.23476	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.63	-7.33	0.01284	-2.254000	0.01265	.	.	-0.176000	0.10722	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.0978:0.5708:0.1979:0.1336	8.139	0.30232	819	0.41190	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.008621	0.000000	0.000000	0.07143	535.63	41	chr16	3966931	.	C	T	535.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.589;DP=240;ExcessHet=0;FS=1.688;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=17.85;ReadPosRankSum=0.188;SOR=1.329	GT:AD:DP:GQ:PL	0/1:8,22:30:99:546,0,155	6	0	1	0
chr16	12403495	12403495	G	A	exonic	SNX29	.	nonsynonymous SNV	SNX29:NM_032167:exon18:c.G2003A:p.R668Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.032576923482	.	.	2.769e-05	0	0.0002	0	0	2.571e-05	0	0	1.94e-05	3	154602	rs768619037	2.678e-05	2.805e-05	2.457e-05	2.902e-05	2.993e-05	2.005e-05	1.761e-05	1.63e-05	1.385e-05	2.993e-05	2.26e-05	0	0	0	0	2.343e-05	0.0001	2.364e-05	4.607e-05	4.598e-05	6.43e-05	2.696e-05	6.561e-05	2.112e-05	1.529e-05	1.972e-05	1.125e-05	4.837e-05	0	6.561e-05	0	0	0	0	5.882e-05	0	0	0.179	0.22573	T	0.354	0.17268	T	.	.	.	.	.	.	0.000011	0.62929	D	0.069170	0.864899	0.28298	N	1.265	0.31966	L	1.52	0.30669	T	-1.32	0.39314	N	0.684	0.69037	-1.0366	0.18357	T	0.094	0.35604	T	8	0.22176406	0.38910	T	0.032577	0.54365	D	.	.	.	.	0.309530620856	0.30565	0.43431702678518536	0.43348	.	.	0.649030447006	0.59848	T	0.04314	0.26408	T	-0.152862	0.27865	T	-0.32419	0.42114	T	0.541759192943573	0.34169	D	0.936706	0.80758	D	0.085861094	0.19934	0.10875785	0.26204	0.085861094	0.19934	0.10875785	0.26203	-8.259	0.62821	D	.	.	0.122	0.33110	B	.;.;.	.;.;.	4.539046	0.71334	25.7	0.99947144923474995	0.99913	0.86894	0.46278	D	AEFBI	0.545245	0.55984	D	0.313605922818647	0.56846	3.850111	0.401782080918332	0.61675	4.371076	0.999997032058454	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.618467	0.43123	0	0.655142	0.61905	0	.	.	5.24	5.24	0.72863	6.950000	0.75778	8.544000	0.77503	-0.108000	0.15293	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	16.331	0.82847	938	0.14419	Phox homologous domain|Phox homologous domain|SNX29, PX domain;Phox homologous domain|Phox homologous domain|SNX29, PX domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	258.27	33	chr16	12403495	.	G	A	258.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.818;DP=216;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=6.62;ReadPosRankSum=-1.505;SOR=0.818	GT:AD:DP:GQ:PL	0/1:26,13:39:99:268,0,567	5	0	1	1
chr16	14880084	14880084	G	A	exonic	NOMO1;NOMO3	.	nonsynonymous SNV	NOMO3:NM_001004067:exon24:c.G2827A:p.E943K,NOMO1:NM_014287:exon24:c.G2827A:p.E943K	.	569	952	1	0	0	1	0.000524934	.	.	.	2213338	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.077	0.00414520650661	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1310250376	5.481e-05	5.472e-05	5.998e-05	4.958e-05	6.656e-05	4.483e-05	4.153e-05	5.423e-05	4.967e-05	2.994e-05	0	0	0	1.872e-05	0	6.656e-05	4.983e-05	1.161e-05	1.99e-05	1.972e-05	3.883e-05	0	4.428e-05	5.29e-06	2.47e-06	1.175e-05	6.26e-06	0	0	0	0	0	0	0	4.428e-05	0	0	0.357	0.12032	T	0.234	0.47336	T	0.291	0.32334	B	0.009	0.14300	B	0.000006	0.62929	D	0.108387	0.998864	0.45582	D	1.04	0.26193	L	1.39	0.33842	T	-1.44	0.35399	N	0.343	0.40164	-1.0765	0.08043	T	0.060	0.25054	T	10	0.18920434	0.34509	T	0.004145	0.09931	T	0.077	0.22490	0.467	0.53891	0.280987212366	0.27714	0.27475592011951716	0.27388	.	.	0.760634303093	0.76023	T	0.017437	0.23362	T	-0.389066	0.02728	T	-0.527343	0.19552	T	0.217559486627579	0.21342	T	0.980602	0.93381	D	0.2091893	0.43178	0.15138324	0.35662	0.2091893	0.43178	0.15138324	0.35661	-7.229	0.55689	T	.	.	0.187	0.40392	B	.;.;.	.;.;.	4.039470	0.59798	24.1	0.99741908353416198	0.83555	0.82943	0.42106	D	AEFI	0.304248	0.41200	N	-0.127492260682672	0.36197	2.089121	-0.0315160277147745	0.38298	2.25448	8.41926995843755E-5	0.04703	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	3.04	3.04	0.34171	5.639000	0.67541	11.662000	0.93998	0.325000	0.19437	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:0.0:1.0:0.0	11.950	0.52235	814	0.42100	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	280.49	37	chr16	14880084	.	G	A	280.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.342;DP=196;ExcessHet=0;FS=1.713;MLEAC=1;MLEAF=0.071;MQ=36.54;MQRankSum=-1.695;QD=12.75;ReadPosRankSum=0.1;SOR=0.355	GT:AD:DP:GQ:PL	0/1:9,13:22:99:291,0,191	6	0	1	0
chr16	19714239	19714239	G	A	exonic	KNOP1	.	nonsynonymous SNV	KNOP1:NM_001012991:exon2:c.C797T:p.A266V,KNOP1:NM_001348527:exon2:c.C977T:p.A326V,KNOP1:NM_001348530:exon2:c.C797T:p.A266V,KNOP1:NM_001348531:exon2:c.C797T:p.A266V,KNOP1:NM_001348534:exon2:c.C797T:p.A266V,KNOP1:NM_001348535:exon2:c.C797T:p.A266V,KNOP1:NM_001348536:exon2:c.C797T:p.A266V,KNOP1:NM_001348528:exon3:c.C797T:p.A266V,KNOP1:NM_001348529:exon3:c.C797T:p.A266V,KNOP1:NM_001348532:exon3:c.C797T:p.A266V,KNOP1:NM_001348533:exon3:c.C797T:p.A266V,KNOP1:NM_001348537:exon3:c.C797T:p.A266V	.	433	1080	9	0	0	9	0.00414938	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	.	0.0002	0.0071885	0.0071	0	0.0327	0.0394	0.0024	0.0010	0.0055	0.0030	0.0061448	950	154602	rs2074036	0.0026	0.0026	0.0027	0.0026	0.0419	0.0026	0.0025	0.0402	0.0395	0.0003	0.0263	0.0041	0.0419	0.0015	0.0005	0.0003	0.0030	0.0039	0.0030	0.0030	0.0025	0.0036	0.0375	0.0028	0.0027	0.0332	0.0315	0.0001	0	0.0108	0.0046	0.0375	0.0021	0	0.0005	0.0024	0.0035	0.377	0.11298	T	0.303	0.20164	T	0.0	0.02946	B	0.001	0.04355	B	0.106892	0.02600	N	1.984170	1	0.08975	N	-0.55	0.02420	N	1.91	0.23283	T	-1.39	0.34397	N	0.033	0.00882	-1.0467	0.15332	T	0.009	0.03183	T	9	0.002591312	0.00039	T	.	.	.	0.064	0.18567	.	.	0.0762999501168	0.06990	0.013604625282853606	0.01318	0.084664028612	0.09566	0.248540833592	0.03616	T	0.009919	0.08996	T	-0.626393	0.00101	T	-0.640411	0.09639	T	0.00216410544944276	0.00022	T	0.290771	0.05306	T	0.015425574	0.00139	0.024287125	0.00446	0.015425574	0.00138	0.024287125	0.00446	-3.206	0.12554	T	.	.	0.080	0.07889	B	.	.	-0.653834	0.01431	0.085	0.66021662738853648	0.07939	0.04592	0.10244	N	AEFBCI	0.041141	0.06216	N	-1.61169657539687	0.01207	0.05248635	-1.68216567514945	0.01218	0.05486738	0.999999530396617	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.84	-7.51	0.01203	-0.192000	0.09585	-0.338000	0.09838	-0.858000	0.02657	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5004:0.2429:0.1406:0.1161	2.455	0.04252	683	0.59664	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003021	0.005051	0.000000	0.002924	0.000000	0.000000	0.003049	0.011364	0.07143	304.83	30	chr16	19714239	.	G	A	304.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.056;DP=184;ExcessHet=0;FS=1.66;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.7;ReadPosRankSum=0.145;SOR=1.093	GT:AD:DP:GQ:PL	0/1:11,13:24:99:315,0,285	6	0	1	0
chr16	21402702	21402702	C	T	exonic	NPIPB3	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.0246251715544	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0.0008	0.0009	0.0011	0.0128	0.0008	0.0008	0.0101	0.0091	0	0	0.0005	0.0128	0.0021	0	0.0002	0	0.0006	0	0.0002	0	0	.	0	0	.	.	0	.	0	.	.	0	.	0	.	.	0.138	0.25873	T	0.149	0.32568	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.39	0.57419	T	-0.67	0.19297	N	0.058	0.02964	-1.0457	0.15621	T	0.087	0.33746	T	5	0.085467845	0.14432	T	0.024625	0.47617	T	0.044	0.11924	.	.	0.082315109003	0.07666	0.006208973850540704	0.00589	.	.	.	.	.	.	.	.	-0.234807	0.16018	T	-0.57506	0.14988	T	0.232985343204068	0.22092	T	0.518348	0.16810	T	.	.	.	.	.	.	.	.	-9.475	0.70703	D	.	.	.	.	.	.	.	1.309998	0.17132	12.98	0.97698267627362056	0.35418	0.00086	0.00577	N	AEFI	0.033535	0.03998	N	-0.453380572196268	0.23626	1.270027	-0.50584879692224	0.21994	1.192462	1.09648973830877E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	.	.	.	0.137000	0.15816	-0.809000	0.07342	0.150000	0.17692	0.002000	0.15269	0.000000	0.08366	0.002000	0.04165	.	.	.	878	0.29785	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	199.2	13	chr16	21402702	.	C	T	199.2	.	AC=1;AF=0.1;AN=10;BaseQRankSum=0.256;DP=105;ExcessHet=0;FS=2.515;MLEAC=1;MLEAF=0.1;MQ=21.53;MQRankSum=-1.678;QD=13.28;ReadPosRankSum=0;SOR=1.802	GT:AD:DP:GQ:PL	0/1:5,10:15:75:208,0,75	4	0	1	2
chr16	21404236	21404236	C	-	splicing	NPIPB3	NM_130464:exon10:c.1691+1G>-;NM_130464:exon11:c.1692-1G>-	.	.	.	1479	15	0	28	0	56	0.651163	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	.	.	.	.	0	.	.	0.0004528	70	154602	rs767458164	0.3333	0.0001	1.0000	0	0.5000	0.0592	0.0248	0.0888	0.0371	.	0.5000	.	.	.	.	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	426.24	4	chr16	21404235	.	GC	G	426.24	.	AC=8;AF=1;AN=8;DP=17;ExcessHet=0;FS=0;MLEAC=9;MLEAF=1;MQ=27.33;QD=27.5;SOR=4.977	GT:AD:DP:GQ:PL	1/1:0,2:2:6:75,6,0	0	4	0	3
chr16	21818753	21818753	T	G	exonic	RRN3	.	unknown	UNKNOWN	.	440	1081	1	0	0	1	0.000462321	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000199681	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs558069817	9.863e-05	9.199e-05	5.498e-05	0.0001	0.0015	8.453e-05	7.948e-05	0.0013	0.0012	0	0	0	0	0	0	0	7.205e-05	0.0015	4.597e-05	4.593e-05	2.57e-05	6.715e-05	0.0015	2.108e-05	1.526e-05	0.0007	0.0005	0	0	0	0	0	0	0	0	0	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	159.49	21	chr16	21818753	.	T	G	159.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.478;DP=176;ExcessHet=0;FS=2.246;MLEAC=1;MLEAF=0.071;MQ=56.97;MQRankSum=0.38;QD=9.97;ReadPosRankSum=-0.156;SOR=0.199	GT:AD:DP:GQ:PL	0/1:9,7:16:99:170,0,240	6	0	1	0
chr16	21836033	21836033	C	T	exonic	NPIPB3;NPIPB4;NPIPB5	.	nonsynonymous SNV	NPIPB4:NM_001310148:exon8:c.G2354A:p.S785N,NPIPB4:NM_001384979:exon8:c.G2354A:p.S785N,NPIPB4:NM_001384980:exon8:c.G2354A:p.S785N,NPIPB5:NM_001135865:exon9:c.G2213A:p.S738N,NPIPB4:NM_001384981:exon9:c.G2345A:p.S782N,NPIPB4:NM_001384982:exon9:c.G2297A:p.S766N,NPIPB3:NM_130464:exon10:c.G2339A:p.S780N	.	773	748	1	0	0	1	0.000668003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.0930073214177	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1328654978	0.0046	0.0006	0.0022	0.0058	0.0136	0.0041	0.0039	0.0121	0.0116	0	0	0	0	0	0	0	0.0018	0.0136	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.661	0.06490	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.65	0.27650	T	-0.53	0.16393	N	0.074	0.04790	-0.6126	0.64296	T	0.169	0.50842	T	4	0.0096052885	0.00216	T	0.093007	0.75995	D	0.103	0.29403	.	.	0.173771789658	0.16945	5.7728176470188065E-5	0.00004	.	.	.	.	.	0.014454	0.12303	T	-0.610893	0.00125	T	-0.643601	0.09409	T	0.10771943849053	0.13186	T	0.468553	0.13811	T	0.20515269	0.42648	0.1604574	0.37372	0.20515269	0.42648	0.1604574	0.37371	-11.494	0.82298	D	.	.	0.824	0.78412	P	.	.	2.054378	0.26120	17.00	0.94345237223972978	0.24689	0.00092	0.00608	N	AEFBI	0.040272	0.05968	N	-0.0300768297955081	0.40498	2.405967	-0.203299388941242	0.31417	1.777826	1.09648973830877E-6	0.01202	0.617157	0.39670	1	0.786243	0.99712	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	.	.	.	0.147000	0.16021	-1.614000	0.05058	0.156000	0.17708	0.002000	0.15269	0.000000	0.08366	0.002000	0.04165	.	.	.	612	0.66786	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	258.27	8	chr16	21836033	.	C	T	258.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.577;DP=165;ExcessHet=0;FS=3.214;MLEAC=1;MLEAF=0.083;MQ=37.19;MQRankSum=0.728;QD=14.35;ReadPosRankSum=0.624;SOR=0.105	GT:AD:DP:GQ:PL	0/1:8,10:18:99:268,0,227	5	0	1	1
chr16	21836409	21836409	C	T	exonic	NPIPB3;NPIPB4;NPIPB5	.	nonsynonymous SNV	NPIPB4:NM_001310148:exon8:c.G1978A:p.V660I,NPIPB4:NM_001384979:exon8:c.G1978A:p.V660I,NPIPB4:NM_001384980:exon8:c.G1978A:p.V660I,NPIPB5:NM_001135865:exon9:c.G1837A:p.V613I,NPIPB4:NM_001384981:exon9:c.G1969A:p.V657I,NPIPB4:NM_001384982:exon9:c.G1921A:p.V641I,NPIPB3:NM_130464:exon10:c.G1963A:p.V655I	.	591	927	4	0	0	4	0.00215285	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.00959801976411	.	0.000399361	0.0019	0	0	0	0	0.0007	0	0.0043	7.68e-05	2	26028	rs534531061	0.0002	0.0001	9.236e-05	0.0002	0.0014	0.0001	0.0001	0.0010	0.0009	0.0001	0.0002	0	2.694e-05	0	0.0014	7.129e-05	0.0003	0.0012	0.0002	0.0002	8.643e-05	0.0002	0.0002	8.156e-05	6.274e-05	7.637e-05	5.255e-05	0.0001	0	0	0	0	0	0.0081	0.0002	0.0012	0	0.011	0.55530	D	0.485	0.11725	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.1	0.19990	T	-0.17	0.09627	N	0.044	0.01658	-1.0111	0.26573	T	0.023	0.09787	T	5	0.008140653	0.00185	T	0.009598	0.25107	T	0.014	0.01968	0.325	0.30711	0.0297737177859	0.01360	8.999646442461189E-4	0.00082	.	.	.	.	.	0.004251	0.03660	T	-0.577909	0.00199	T	-0.722965	0.04654	T	0.0147949886349223	0.00311	T	0.391661	0.09743	T	0.10991212	0.25983	0.077704	0.17334	0.10991212	0.25983	0.077704	0.17333	-7.245	0.55804	T	.	.	0.183	0.39782	B	.	.	0.801994	0.11727	8.304	0.91483194608739338	0.20755	0.00064	0.00463	N	AEFBI	0.025339	0.01718	N	-1.5534487308449	0.01515	0.06614223	-1.6596236208612	0.01327	0.05987788	7.88067496954742E-5	0.04552	0.706298	0.61202	0	0.709663	0.81188	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	.	.	.	-2.064000	0.01475	-0.533000	0.08625	-2.162000	0.00369	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	.	.	.	612	0.66786	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	913.44	34	chr16	21836409	.	C	T	913.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.19;DP=276;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=48.83;MQRankSum=-0.84;QD=9.82;ReadPosRankSum=0.213;SOR=0.724	GT:AD:DP:GQ:PL	0/1:52,41:93:99:924,0,1180	6	0	1	0
chr16	22148185	22148185	G	T	exonic	VWA3A	.	nonsynonymous SNV	VWA3A:NM_173615:exon28:c.G2863T:p.V955F	.	434	1086	2	0	0	2	0.000919963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.439	.	.	0.00419329	0.0039	0	0.0003	0	0	3.207e-05	0	0.0224	0.0017788	275	154602	rs200655453	0.0009	0.0009	0.0005	0.0014	0.0147	0.0009	0.0008	0.0140	0.0137	0	0	0	5.083e-05	0	0.0009	8.129e-06	0.0010	0.0147	0.0006	0.0006	0.0003	0.0009	0.0183	0.0005	0.0004	0.0152	0.0140	0	0	0	0	0	0	0	0	0.0005	0.0183	0.004	0.68238	D	0.004	0.74150	D	0.884	0.62325	P	0.465	0.55899	P	0.001054	0.40475	N	0.208574	0.993995	0.23608	N	1.685	0.43254	L	-1.93	0.84842	D	-3.04	0.65972	D	0.577	0.60241	-0.3168	0.74511	T	0.533	0.82714	D	10	0.0063054264	0.00142	T	.	.	.	0.439	0.74306	0.395	0.42099	0.375861065471	0.37200	0.4422970933780521	0.44146	0.198075045376	0.22186	0.29337143898	0.09416	T	0.17024	0.51791	T	-0.273374	0.11383	T	-0.152485	0.59023	T	0.116390489335226	0.14073	T	0.846115	0.53896	T	0.17384705	0.38155	0.14233176	0.33864	0.17384705	0.38155	0.14233176	0.33863	-9.226	0.69959	D	.	.	0.277	0.51050	B	.;.	.;.	0.913656	0.12881	9.393	0.9938488627154618	0.62068	0.57027	0.30269	D	AEFDBI	0.185358	0.31269	N	-0.124426076258706	0.36330	2.098576	-0.162504704086202	0.32930	1.878428	0.00619585905205814	0.11153	0.487112	0.14033	0	0.573888	0.26702	0	0.491513	0.07944	0	0.542086	0.14980	0	.	.	4.95	3.76	0.42368	1.999000	0.40425	-0.057000	0.12472	-0.244000	0.07312	0.982000	0.35529	0.000000	0.08366	0.137000	0.19835	0.8835:0.0:0.1165:0.0	7.873	0.28741	458	0.78890	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.011364	0.07143	737.53	33	chr16	22148185	.	G	T	737.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.33;DP=235;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.71;ReadPosRankSum=0.578;SOR=0.646	GT:AD:DP:GQ:PL	0/1:32,31:63:99:748,0,670	6	0	1	0
chr16	22534614	22534614	C	G	exonic	NPIPB5	.	stopgain	NPIPB5:NM_001135865:exon7:c.C1631G:p.S544X	.	579	941	1	0	1	2	0.000531067	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	.	.	.	0.0003	0.0001	0.0003	0.0001	0.0003	0.0003	0	0.0002	3.84e-05	1	26028	rs747407838	2.063e-05	0.0001	1.642e-05	2.487e-05	5.993e-05	1.463e-05	1.27e-05	1.217e-05	1.033e-05	5.993e-05	2.241e-05	3.829e-05	0	7.741e-05	0	1.894e-05	1.666e-05	0	0.0010	0.0025	0.0010	0.0010	0.0027	0.0009	0.0008	0.0015	0.0012	0.0006	0.0025	0.0011	0.0003	0.0027	0.0018	0.0146	0.0010	0.0005	0.0016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.045	0.01911	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090751	0.63274	D	-0.107419	0.62816	T	0.579547584056854	0.35601	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;Tolerant;Tolerant;.	.;.;High;High;.	4.325984	0.66244	24.9	0.79309262267361202	0.12683	0.00378	0.01916	N	AEFI	0.025986	0.01873	N	-0.100938361158426	0.37352	2.171873	-0.582274282234248	0.19955	1.072993	1.64607651243059E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	.	.	.	0.113000	0.15333	0.367000	0.17636	0.120000	0.17638	0.012000	0.18695	0.012000	0.20211	0.012000	0.09680	.	.	.	934	0.15400	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	335.44	81	chr16	22534614	.	C	G	335.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.344;DP=788;ExcessHet=0;FS=0.67;MLEAC=1;MLEAF=0.071;MQ=54.32;MQRankSum=-1.92;QD=1.42;ReadPosRankSum=-2.321;SOR=0.79	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:199,37:236:99:0|1:22534576_G_T:346,0,7587:22534576	6	0	1	0
chr16	24823726	24823726	C	A	exonic	TNRC6A	.	nonsynonymous SNV	TNRC6A:NM_001330520:exon24:c.C5661A:p.D1887E,TNRC6A:NM_001351850:exon24:c.C5688A:p.D1896E,TNRC6A:NM_014494:exon25:c.C5808A:p.D1936E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.00248487813775	.	.	8.914e-06	0	0	0	0	0	0	9.479e-05	1.29e-05	2	154602	rs774099353	1.006e-05	1.231e-05	8.502e-06	1.166e-05	0.0001	5.84e-06	4.57e-06	7.183e-05	5.466e-05	0	0	0	0	0	0	2.78e-06	1.745e-05	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.148	0.24857	T	0.456	0.12740	T	0.006	0.18474	B	0.007	0.13708	B	0.000007	0.62929	D	0.108201	0.948924	0.37630	D	0.51	0.13489	N	2.51	0.37052	T	-2.62	0.57110	D	0.141	0.15328	-0.9757	0.35970	T	0.110	0.39723	T	10	0.14610597	0.27705	T	0.002485	0.04925	T	0.063	0.18251	0.21	0.12781	0.279809986126	0.27602	0.14540309236290652	0.14463	0.0175472640881	0.01711	0.7486358881	0.74246	T	0.202377	0.56053	T	-0.438392	0.01322	T	-0.582783	0.14298	T	0.107756650030719	0.13189	T	0.910909	0.69895	D	0.18236351	0.39452	0.16300103	0.37834	0.18236351	0.39452	0.16300103	0.37834	-5.242	0.39366	T	.	.	0.110	0.41433	B	.;.;.	.;.;.	2.581446	0.33471	19.35	0.97352112304537142	0.33529	0.78565	0.38780	D	AEFDBCI	0.202281	0.32888	N	0.228518444618449	0.52584	3.431762	0.36699708726654	0.59539	4.132509	0.999922934641249	0.46280	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.64	5.64	0.86480	3.471000	0.52871	4.817000	0.45088	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.1435:0.718:0.1384:0.0	11.074	0.47240	353	0.85335	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	617.49	35	chr16	24823726	.	C	A	617.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.582;DP=240;ExcessHet=0;FS=2.169;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.47;ReadPosRankSum=1.18;SOR=0.446	GT:AD:DP:GQ:PL	0/1:32,27:59:99:628,0,686	6	0	1	0
chr16	24823787	24823787	G	C	exonic	TNRC6A	.	nonsynonymous SNV	TNRC6A:NM_001330520:exon24:c.G5722C:p.G1908R,TNRC6A:NM_001351850:exon24:c.G5749C:p.G1917R,TNRC6A:NM_014494:exon25:c.G5869C:p.G1957R	.	430	1089	3	0	0	3	0.00137552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.291	0.107122584193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.511e-06	1.368e-06	2.949e-06	0	2.863e-05	2.5e-07	9e-08	.	.	0	0	0	2.863e-05	0	0	9.57e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.455	0.71248	M	0.3	0.74265	T	-3.34	0.66325	D	0.642	0.67477	-0.4352	0.70890	T	0.370	0.72940	T	10	0.5910926	0.66384	D	0.107123	0.78306	D	0.377	0.69527	0.263	0.20788	0.654932626064	0.65205	0.4236224276499457	0.42279	0.140476801688	0.15843	0.780578076839	0.79014	T	0.350096	0.71786	T	0.288398	0.82024	D	0.176488	0.81793	D	0.98703408241272	0.77612	D	0.990001	0.96904	D	0.5730659	0.71228	0.65040064	0.79546	0.5730659	0.71229	0.65040064	0.79547	-4.753	0.34777	T	.	.	0.522	0.77936	A	.;.;.	.;.;.	5.016323	0.83334	28.0	0.99872827416981436	0.94989	0.97492	0.75099	D	AEFDBCI	0.919275	0.88957	D	0.567754736763813	0.71168	5.610255	0.646024794079921	0.78317	6.851599	0.999999999995707	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.64	5.64	0.86480	8.978000	0.93023	9.912000	0.82435	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	17.890	0.88787	353	0.85335	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	270.53	33	chr16	24823787	.	G	C	270.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.9;DP=209;ExcessHet=0;FS=8.994;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.33;ReadPosRankSum=0.2;SOR=2.476	GT:AD:DP:GQ:PL	0/1:17,12:29:99:281,0,414	6	0	1	0
chr16	29816749	29816749	G	C	exonic	PAGR1	.	nonsynonymous SNV	PAGR1:NM_024516:exon1:c.G224C:p.G75A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.00148697796115	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.385e-06	1.368e-06	1.376e-06	1.395e-06	1.811e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.811e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.755	0.03533	T	0.729	0.05184	T	0.0	0.02946	B	0.0	0.01387	B	0.850556	0.07055	N	1.080180	1	0.08975	N	0	0.06538	N	.	.	.	-0.22	0.10480	N	0.02	0.00308	-1.0367	0.18326	T	0.018	0.07612	T	9	0.028013319	0.00938	T	0.001487	0.02292	T	0.061	0.17616	0.114	0.02306	0.0675242888579	0.06100	0.05964108332541728	0.05904	.	.	0.315945953131	0.12807	T	0.094171	0.39363	T	-0.368867	0.03651	T	-0.767629	0.02847	T	0.03209838085706	0.02323	T	0.391261	0.09725	T	0.021216288	0.00713	0.026882125	0.00803	0.021216288	0.00713	0.026882125	0.00803	-3.548	0.17110	T	.	.	0.057	0.00593	B	.	.	-0.998299	0.00773	0.025	0.31312332213623167	0.01758	0.00226	0.01270	N	ALL	0.131035	0.24982	N	-1.64403744819171	0.01060	0.04601269	-1.73144875909358	0.01005	0.04504929	0.999999999999998	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.52208	0.10781	0	0.621717	0.48901	0	.	.	5.34	-10.7	0.00191	-1.933000	0.01644	-0.414000	0.09328	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.3121:0.2461:0.2183:0.2235	0.314	0.00272	254	0.90023	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	402.53	23	chr16	29816749	.	G	C	402.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.942;DP=199;ExcessHet=0;FS=3.312;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.42;ReadPosRankSum=0.495;SOR=0.47	GT:AD:DP:GQ:PL	0/1:11,19:30:99:413,0,261	6	0	1	0
chr16	30194892	30194892	T	A	exonic	SLX1A;SLX1B	.	nonsynonymous SNV	SLX1A:NM_001014999:exon3:c.T247A:p.W83R,SLX1B:NM_024044:exon3:c.T247A:p.W83R	.	448	1067	7	0	0	7	0.0032695	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.789	.	.	.	0.0538	0	0	0	0	0	0.0294	0.0948	0.0001921	5	26028	rs746668760	0.0034	0.0038	0.0019	0.0049	0.0577	0.0033	0.0033	0.0563	0.0557	0.0003	8.815e-05	8.264e-05	8.531e-05	0	0.0010	3.769e-05	0.0037	0.0577	0.0019	0.0021	0.0009	0.0029	0.0595	0.0017	0.0016	0.0538	0.0515	9.69e-05	0	0	0	0	0	0	1.489e-05	0.0005	0.0595	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	0.000008	0.62929	U	0.000000	1	0.81001	D	2.07	0.56829	M	.	.	.	-12.77	0.99816	D	0.729	0.73015	-0.3285	0.74177	T	0.338	0.70404	T	6	0.0107008815	0.00237	T	.	.	.	0.789	0.93028	0.702	0.83869	0.265735104816	0.26182	0.8410725124010231	0.84067	4.91872213902	0.99982	0.931562960148	0.99073	D	0.277513	0.65013	T	0.234003	0.77096	D	0.362781	0.90808	D	0.1218932842707	0.14613	T	.	.	.	0.8855288	0.90127	0.7907788	0.87694	0.8855288	0.90129	0.7907788	0.87695	-11.155	0.80501	D	.	.	0.962	0.88336	P	.	.	4.988896	0.82689	27.9	0.99042650704353963	0.51051	0.97814	0.77329	D	AEFBI	0.695335	0.65404	D	0.0931418476555597	0.46144	2.859297	0.0778036335923834	0.43435	2.645262	0.999112456492939	0.38479	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	3.94	3.94	0.44807	3.745000	0.54838	7.466000	0.59102	0.500000	0.22704	1.000000	0.71638	1.000000	0.68203	0.009000	0.08673	0.0:0.0:0.0:1.0	11.943	0.52196	265	0.89590	GIY-YIG endonuclease|GIY-YIG endonuclease	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	309.63	20	chr16	30194892	.	T	A	309.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=4.26;DP=199;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=27;MQRankSum=0;QD=9.99;ReadPosRankSum=2.48;SOR=0.434	GT:AD:DP:GQ:PL	0/1:18,13:31:99:320,0,478	6	0	1	0
chr16	57723007	57723007	A	G	exonic	DRC7	.	nonsynonymous SNV	DRC7:NM_001289163:exon10:c.A1219G:p.N407D,DRC7:NM_032269:exon11:c.A1414G:p.N472D,DRC7:NM_001289162:exon12:c.A1414G:p.N472D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.00578750605759	.	0.000199681	0.0006	0	0	0	0	0	0.0011	0.0043	0.0004786	74	154602	rs532549050	0.0003	0.0003	0.0002	0.0005	0.0049	0.0003	0.0003	0.0045	0.0044	0	0	0	0	0	0.0002	0	0.0005	0.0049	0.0001	0.0001	2.571e-05	0.0002	0.0041	8.663e-05	7.255e-05	0.0027	0.0023	0	0	0	0	0	0	0	0	0	0.0041	0.471	0.14352	T	0.417	0.14241	T	0.002	0.28678	B	0.002	0.28749	B	0.073035	0.21372	N	0.551359	1	0.08975	N	.	.	.	3.14	0.09542	T	-1.07	0.27876	N	0.157	0.24758	-0.9474	0.41414	T	0.016	0.06425	T	10	0.0039737225	0.00077	T	0.005788	0.15042	T	0.016	0.02506	0.26	0.20315	0.0611884634855	0.05136	0.188981875197907	0.18816	0.196796166778	0.22053	0.312736809254	0.12321	T	0.020022	0.15839	T	-0.699439	0.00037	T	-0.777616	0.02526	T	0.0400965575758768	0.03707	T	0.453455	0.12891	T	0.0752353	0.16936	0.054368503	0.09337	0.0752353	0.16935	0.054368503	0.09336	-2.504	0.11159	T	.	.	0.071	0.06479	B	.;.;.	.;.;.	-0.411950	0.02168	0.212	0.81664775339325035	0.13798	0.03664	0.08924	N	AEFDBI	0.045442	0.07432	N	-1.16808296827633	0.05489	0.2503528	-1.16398767456275	0.06520	0.3141134	0.151144817210888	0.17442	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.4	1.86	0.24489	-0.428000	0.07059	0.360000	0.17566	-0.092000	0.16129	0.000000	0.06391	0.000000	0.08366	0.168000	0.20914	0.5384:0.1733:0.2884:0.0	4.188	0.09869	867	0.32089	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	421.44	34	chr16	57723007	.	A	G	421.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.569;DP=224;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.4;ReadPosRankSum=0.069;SOR=0.671	GT:AD:DP:GQ:PL	0/1:15,19:34:99:432,0,346	6	0	1	0
chr16	57815568	57815568	A	C	exonic	LOC388282	.	nonsynonymous SNV	LOC388282:NM_001278081:exon3:c.A441C:p.L147F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0	0	0	0	0	0	0.0019	9.06e-05	14	154602	rs782385203	0.0002	0.0001	7.594e-05	0.0002	0.0020	0.0001	0.0001	0.0017	0.0016	0	0	0	0	0	0.0002	4.344e-06	0.0005	0.0020	4.596e-05	4.593e-05	0	9.4e-05	0.0014	2.108e-05	1.526e-05	0.0007	0.0005	0	0	0	0	0	0	0	0	0	0.0014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	433.44	34	chr16	57815568	.	A	C	433.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.91;DP=277;ExcessHet=0;FS=2.19;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=6.47;ReadPosRankSum=-1.249;SOR=1.034	GT:AD:DP:GQ:PL	0/1:45,22:67:99:444,0,1209	6	0	1	0
chr16	67228398	67228398	C	G	exonic	TMEM208	.	nonsynonymous SNV	TMEM208:NM_014187:exon3:c.C146G:p.A49G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	0.0137786039362	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	1.437e-05	0	1.375e-06	8.995e-07	0	0	.	.	0	0	0	0	0	0	8.995e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.346	0.12632	T	0.342	0.17910	T	0.679	0.41373	P	0.136	0.33270	B	0.000340	0.45700	D	0.193031	0.994158	0.81001	D	1.7	0.43825	L	1.52	0.30669	T	-1.76	0.42191	N	0.539	0.58287	-1.0958	0.04639	T	0.060	0.25237	T	10	0.29794908	0.47354	T	0.013779	0.33440	T	0.079	0.23065	0.457	0.52265	0.0762999501168	0.06990	0.5849071720731794	0.58420	0.288640209993	0.31269	0.727495908737	0.71140	T	0.060991	0.31535	T	-0.105032	0.35590	T	-0.388647	0.34711	T	0.644348740577698	0.38221	D	0.905209	0.66592	D	0.18404564	0.39701	0.18685585	0.41883	0.18404564	0.39700	0.18685585	0.41883	-4.656	0.32867	T	.	.	0.144	0.35951	B	.;.	.;.	3.123735	0.42181	21.5	0.97918489311336776	0.36864	0.96631	0.70114	D	AEFGBHCI	0.849400	0.76622	D	0.248460247980296	0.53561	3.524604	0.366247796533668	0.59493	4.127561	0.99999999987856	0.74766	0.722319	0.85440	0	0.672317	0.65289	0	0.606735	0.37207	0	0.735409	0.98432	0	.	.	5.39	5.39	0.77615	4.879000	0.62792	5.972000	0.52016	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	15.888	0.79052	25	0.98345	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	163.93	54	chr16	67228398	.	C	G	163.93	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-2.712;DP=437;ExcessHet=0.4139;FS=181.339;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=1.26;ReadPosRankSum=0.997;SOR=8.222	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:27,9:36:37:0|1:67228398_C_G:37,0,925:67228398	4	0	2	1
chr16	67977306	67977306	G	A	exonic	DPEP3	.	stopgain	DPEP3:NM_001129758:exon7:c.C979T:p.Q327X,DPEP3:NM_001370198:exon7:c.C982T:p.Q328X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.84e-07	1.361e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.164548	0.17559	N	0.574879	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.079	0.05414	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.497318	0.94214	D	0.476586	0.94137	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	8.390398	0.97508	37	0.99689723314774137	0.79842	0.59460	0.30921	D	AEFBCI	0.181993	0.30931	N	0.827329322770458	0.87782	9.338917	0.681199831417144	0.80953	7.414897	0.971958542624388	0.29330	0.706298	0.61202	0	0.626922	0.53725	0	0.709663	0.75317	0	0.530356	0.10902	0	.	.	5.18	5.18	0.71140	1.547000	0.35798	9.863000	0.82071	0.676000	0.76740	0.921000	0.31989	1.000000	0.68203	0.907000	0.44265	0.0:0.0:0.8186:0.1814	11.335	0.48736	10	0.99061	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1288.45	35	chr16	67977306	.	G	A	1288.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.459;DP=299;ExcessHet=0;FS=1.461;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.83;ReadPosRankSum=-0.939;SOR=0.876	GT:AD:DP:GQ:PL	0/1:61,58:119:99:1299,0,1402	6	0	1	0
chr16	70862243	70862243	T	C	exonic	HYDIN	.	nonsynonymous SNV	HYDIN:NM_001270974:exon69:c.A11582G:p.K3861R	Ciliary dyskinesia, primary, 5, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	0.0516671310721	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.848e-07	6.84e-07	0	1.377e-06	8.995e-07	0	0	.	.	0	0	0	0	0	0	8.995e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.247	0.17296	T	.	.	.	.	.	.	.	.	.	0.541128	0.11535	U	0.659026	1	0.08975	N	1.97	0.53315	M	5.5	0.00921	T	-0.85	0.23156	N	0.111	0.09772	-0.5678	0.66103	T	0.005	0.01578	T	10	0.1312739	0.24983	T	0.051667	0.64754	D	0.097	0.27909	0.192	0.10304	0.352048277211	0.34822	0.12175498999630743	0.12102	.	.	0.380385994911	0.22311	T	0.052458	0.29166	T	-0.240397	0.15298	T	-0.58309	0.14271	T	0.615385770797729	0.37018	D	.	.	.	0.04399247	0.06954	0.045494746	0.06133	0.04399247	0.06954	0.045494746	0.06133	-3.491	0.16306	T	.	.	0.078	0.06896	B	.	.	1.784241	0.22686	15.72	0.98929369246193521	0.48713	0.37534	0.25783	N	AEFDBHCIJ	0.088477	0.17937	N	-0.0323049721041186	0.40396	2.398255	-0.0927161040186666	0.35691	2.067844	0.999999999999979	0.74766	0.648878	0.45929	0	0.563428	0.19063	0	0.596394	0.31383	0	0.613276	0.41899	0	.	.	5.64	4.55	0.55429	1.340000	0.33501	2.357000	0.32349	0.665000	0.62972	0.505000	0.26994	1.000000	0.68203	0.325000	0.25087	0.0:0.0915:0.0:0.9085	7.784	0.28247	542	0.72843	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	603.46	33	chr16	70862243	.	T	C	603.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.65;DP=223;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=59.18;MQRankSum=-0.196;QD=13.41;ReadPosRankSum=0.341;SOR=0.765	GT:AD:DP:GQ:PL	0/1:22,23:45:99:614,0,518	6	0	1	0
chr16	77319905	77319905	T	G	exonic	ADAMTS18	.	nonsynonymous SNV	ADAMTS18:NM_001326358:exon16:c.A1960C:p.N654H,ADAMTS18:NM_199355:exon16:c.A2476C:p.N826H	Microcornea, myopic chorioretinal atrophy, and telecanthus, Autosomal recessive	1	1452	66	3	0	72	0.0241935	.	.	.	1157850	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.154	.	0.0008	0.00519169	0.0045	0.0003	0.0010	0.0001	0.0053	0.0016	0.0033	0.0236	0.003978	615	154602	rs143047414	0.0026	0.0026	0.0018	0.0034	0.0254	0.0025	0.0025	0.0245	0.0242	0.0003	0.0007	0.0083	5.038e-05	0.0043	0.0163	0.0008	0.0029	0.0254	0.0018	0.0018	0.0013	0.0024	0.0232	0.0017	0.0016	0.0197	0.0184	9.626e-05	0	0.0009	0.0069	0.0004	0.0047	0.0102	0.0010	0.0028	0.0232	0.051	0.39334	T	0.091	0.40110	T	0.603	0.39389	P	0.275	0.40079	B	0.000259	0.46924	N	0.216159	0.992794	0.41745	D	2.33	0.66821	M	0.67	0.52187	T	-2.72	0.57920	D	0.376	0.41754	-0.9297	0.44183	T	0.133	0.44504	T	10	0.004567474	0.00095	T	.	.	.	0.154	0.40340	.	.	0.584023569625	0.58075	0.5169625543263867	0.51619	.	.	0.371716141701	0.21078	T	0.093123	0.39147	T	-0.511234	0.00494	T	-0.488205	0.23578	T	0.04476698695772	0.04559	T	0.680232	0.28883	T	0.16513127	0.36765	0.12808686	0.30822	0.16513127	0.36765	0.12808686	0.30821	-4.831	0.34951	T	.	.	0.067	0.02458	B	.	.	2.067435	0.26289	17.07	0.99152019088237753	0.53848	0.88569	0.48558	D	AEFDBI	0.308398	0.41500	N	-0.0971111787511456	0.37519	2.183957	-0.094354553607333	0.35622	2.063184	0.335326949362916	0.19528	0.706548	0.73137	0	0.573888	0.26702	0	0.573888	0.23631	0	0.714379	0.83352	0	.	.	5.54	3.1	0.34780	1.538000	0.35700	2.242000	0.31619	-0.115000	0.14600	0.999000	0.42656	0.999000	0.35428	0.803000	0.37862	0.14:0.0:0.2906:0.5694	6.986	0.23909	771	0.49057	ADAM-TS Spacer 1	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.011581	0.000000	0.010870	0.020468	0.000000	0.008621	0.018293	0.022727	0.1429	1872.44	34	chr16	77319905	.	T	G	1872.44	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.49;DP=316;ExcessHet=0.3476;FS=2.737;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=11.08;ReadPosRankSum=0.266;SOR=0.498	GT:AD:DP:GQ:PL	0/1:28,24:52:99:610,0,659	5	0	2	0
chr16	84196144	84196144	C	T	exonic	ADAD2	.	nonsynonymous SNV	ADAD2:NM_001145400:exon8:c.C1300T:p.P434S,ADAD2:NM_139174:exon9:c.C1546T:p.P516S	.	390	1131	1	0	0	1	0.000441891	.	.	.	2290424	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.429	0.0917729081206	.	.	1.673e-05	0	0.0002	0	0	0	0	0	1.94e-05	3	154602	rs369532147	2.755e-06	4.788e-06	5.486e-06	0	6.711e-05	6.5e-07	4.4e-07	1.78e-05	8.93e-06	0	6.711e-05	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.276	0.15717	T	0.02	0.58613	D	0.291	0.42542	B	0.132	0.41250	B	0.185329	0.16992	N	0.582799	0.597068	0.30971	N	2.295	0.65404	M	-3.17	0.93054	D	-0.91	0.24460	N	0.428	0.46928	0.155	0.85147	D	0.673	0.88692	D	10	0.26264876	0.43735	T	0.091773	0.75768	D	0.429	0.73590	0.435	0.48664	0.66976639498	0.66698	0.2174476087190809	0.21660	.	.	0.339329957962	0.16338	T	0.088617	0.38197	T	-0.0533524	0.43937	T	-0.117442	0.62011	T	0.247386112809181	0.22756	T	0.792821	0.43457	T	0.07404175	0.16588	0.088607095	0.20670	0.07404175	0.16587	0.088607095	0.20670	-3.327	0.19141	T	.	.	0.164	0.36275	B	.;.	.;.	1.840472	0.23383	16.00	0.88910741904386115	0.18355	0.23662	0.22148	N	AEFDBCI	0.166340	0.29292	N	-0.459209143372134	0.23428	1.258102	-0.465264323857694	0.23117	1.25903	0.999999982352232	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	5.16	4.21	0.48984	0.671000	0.24853	4.846000	0.45329	0.596000	0.33519	0.013000	0.18845	0.995000	0.32472	0.013000	0.09966	0.179:0.821:0.0:0.0	11.525	0.49825	759	0.50631	.;Adenosine deaminase/editase|Adenosine deaminase/editase|Adenosine deaminase/editase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	654.46	33	chr16	84196144	.	C	T	654.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.673;DP=238;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.22;ReadPosRankSum=1.4;SOR=0.716	GT:AD:DP:GQ:PL	0/1:18,25:43:99:665,0,403	6	0	1	0
chr16	84448627	84448627	C	T	exonic	ATP2C2	.	nonsynonymous SNV	ATP2C2:NM_001291454:exon14:c.C1145T:p.T382M,ATP2C2:NM_001286527:exon17:c.C1598T:p.T533M,ATP2C2:NM_014861:exon17:c.C1598T:p.T533M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.437	0.276945871313	.	0.000199681	3.317e-05	0	8.639e-05	0	0.0002	2.999e-05	0	0	3.23e-05	5	154602	rs570621282	1.916e-05	1.984e-05	2.042e-05	1.788e-05	5.8e-05	1.328e-05	1.144e-05	2.195e-05	1.43e-05	0	2.238e-05	0	0	0	0	1.889e-05	1.656e-05	5.8e-05	3.938e-05	3.937e-05	6.423e-05	1.342e-05	7.214e-05	1.714e-05	1.128e-05	1.913e-05	1.03e-05	7.214e-05	0	6.533e-05	0	0	9.414e-05	0	1.47e-05	0	0	0.004	0.68238	D	0.016	0.60972	D	0.999	0.77913	D	0.973	0.72923	D	0.000001	0.62929	D	0.000000	0.994575	0.42334	D	3.295	0.90403	M	-0.71	0.72889	T	-4.43	0.77554	D	0.609	0.62611	0.311	0.87729	D	0.573	0.84581	D	10	0.6415654	0.69087	D	0.276946	0.90090	D	0.437	0.74164	0.456	0.52102	0.694938350158	0.69231	0.6508435185510845	0.65020	.	.	0.43711322546	0.30182	T	0.656224	0.89627	D	-0.0278209	0.47734	T	-0.194874	0.55130	T	0.958822309970856	0.65372	D	0.977902	0.92224	D	0.61632663	0.73566	0.51610065	0.72040	0.61632663	0.73568	0.51610065	0.72041	-8.738	0.66400	D	0.4760362501716501	0.55559	0.107	0.22135	B	.;.	.;.	4.762822	0.77023	26.6	0.99897468465129902	0.96971	0.84701	0.43787	D	AEFBI	0.217209	0.34236	N	0.595305707494703	0.72882	5.87601	0.511490082749533	0.68763	5.265036	0.125569840140369	0.16981	0.57788	0.32782	0	0.573888	0.26702	0	0.608075	0.38828	0	0.542086	0.14980	0	.	.	4.99	4.99	0.65942	1.638000	0.36780	4.893000	0.45784	0.599000	0.40250	0.790000	0.29595	1.000000	0.68203	0.589000	0.31115	0.0:1.0:0.0:0.0	17.256	0.86941	982	0.03397	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	273.45	34	chr16	84448627	.	C	T	273.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.812;DP=233;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=4.88;ReadPosRankSum=-1.908;SOR=0.653	GT:AD:DP:GQ:PL	0/1:39,17:56:99:284,0,957	6	0	1	0
chr16	89198297	89198297	G	C	exonic	SLC22A31	.	nonsynonymous SNV	SLC22A31:NM_001366322:exon7:c.C693G:p.S231R,SLC22A31:NM_001384763:exon7:c.C747G:p.S249R,SLC22A31:NM_001384764:exon7:c.C546G:p.S182R,SLC22A31:NM_001384765:exon7:c.C423G:p.S141R,SLC22A31:NM_001384766:exon7:c.C423G:p.S141R,SLC22A31:NM_001384767:exon7:c.C423G:p.S141R,SLC22A31:NM_001384768:exon7:c.C423G:p.S141R,SLC22A31:NM_001384769:exon7:c.C423G:p.S141R,SLC22A31:NM_001384770:exon7:c.C423G:p.S141R,SLC22A31:NM_001384771:exon7:c.C423G:p.S141R,SLC22A31:NM_001384772:exon7:c.C141G:p.S47R,SLC22A31:NM_001384773:exon7:c.C141G:p.S47R,SLC22A31:NM_001384775:exon7:c.C141G:p.S47R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00938459984064	.	.	8.068e-05	0.0018	0	0	0	0	0	0	6.5e-06	1	154602	rs749842570	6.649e-05	6.293e-05	8.989e-05	4.248e-05	0.0023	5.523e-05	5.119e-05	0.0019	0.0017	0.0023	0.0001	0	0	0	0	0	0.0003	0	0.0008	0.0008	0.0007	0.0008	0.0026	0.0007	0.0006	0.0022	0.0021	0.0026	0	0.0005	0	0	0	0	0	0	0	.	.	.	0.062	0.62352	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	0.20262	.	.	.	.	.	.	.	0.028229028	0.00958	T	0.009385	0.24600	T	.	.	.	.	0.356281029322	0.35234	.	.	.	.	0.434709846973	0.29854	T	.	.	.	-0.3565	0.04331	T	-0.2876	0.46022	T	.	.	.	0.460354	0.13329	T	0.096596174	0.22754	0.21830083	0.46528	0.096596174	0.22754	0.21830083	0.46527	-5.716	0.43836	T	.	.	.	.	.	.;.	.;.	2.317866	0.29679	18.20	0.69776270561919096	0.09081	0.99809	0.99609	D	AEFDBHCI	0.369079	0.45594	N	.	.	.	.	.	.	0.999983964343151	0.51787	0.252514	0.04256	0	0.060609	0.00678	0	0.295636	0.05589	0	0.092715	0.02821	0	.	.	3.71	0.399	0.15547	2.479000	0.44857	1.333000	0.25683	0.509000	0.23192	0.988000	0.36536	0.909000	0.28100	0.256000	0.23417	0.1965:0.0:0.6173:0.1862	4.842	0.12857	819	0.41190	Major facilitator superfamily domain;Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	536.63	36	chr16	89198297	.	G	C	536.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.411;DP=228;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.2;ReadPosRankSum=-0.235;SOR=0.54	GT:AD:DP:GQ:PL	0/1:22,22:44:99:547,0,542	6	0	1	0
chr16	89284161	89284161	A	G	exonic	ANKRD11	.	nonsynonymous SNV	ANKRD11:NM_001256183:exon9:c.T2381C:p.I794T,ANKRD11:NM_013275:exon9:c.T2381C:p.I794T,ANKRD11:NM_001256182:exon10:c.T2381C:p.I794T	KBG syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	3802387	KBG_syndrome	MONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050,Orphanet:2332	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.018	0.00727015055541	.	.	8.591e-06	0	8.868e-05	0	0	0	0	0	6.5e-06	1	154602	rs759272573	1.377e-06	3.42e-06	1.369e-06	1.386e-06	4.661e-05	2.3e-07	9e-08	7.73e-06	2.89e-06	0	4.661e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.52	0.10465	T	0.0	0.02946	B	0.0	0.01387	B	0.473085	0.12254	N	0.748708	1	0.08975	N	-1.085	0.01025	N	1.34	0.34841	T	1.27	0.00985	N	0.046	0.02088	-1.0048	0.28517	T	0.024	0.10194	T	10	0.016104728	0.00339	T	0.00727	0.19280	T	0.018	0.03083	0.218	0.13932	0.102598925029	0.09809	3.480766670945786E-4	0.00031	0.108005847181	0.12179	0.323267638683	0.13916	T	0.061263	0.31607	T	-0.50949	0.00505	T	-0.78994	0.02166	T	0.0337778290875112	0.02601	T	0.126787	0.01303	T	0.020807045	0.00653	0.037021473	0.03266	0.020807045	0.00653	0.037021473	0.03266	-3.569	0.17410	T	0.0408067304843778	0.00374	0.07	0.06024	B	.;.;.;.	.;.;.;.	-0.089938	0.03702	0.755	0.29245769297825269	0.01541	0.12818	0.17497	N	AEDBI	0.048489	0.08280	N	-1.30269010940199	0.03644	0.1631694	-1.23211650683061	0.05401	0.257258	0.785011936865866	0.23914	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.43	-1.61	0.07951	0.642000	0.24426	0.839000	0.22025	-0.752000	0.03574	0.196000	0.24261	0.001000	0.17328	0.524000	0.29567	0.2653:0.2317:0.3836:0.1193	1.593	0.02498	819	0.41190	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2	153.93	36	chr16	89284161	.	A	G	153.93	.	AC=2;AF=0.2;AN=10;BaseQRankSum=-2.129;DP=381;ExcessHet=0.4139;FS=106.17;MLEAC=1;MLEAF=0.1;MQ=59.92;MQRankSum=0;QD=1.37;ReadPosRankSum=0.057;SOR=7.328	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:37,9:46:2:.:.:2,0,820:.	3	0	2	2
chr16	89578966	89578966	T	G	exonic	CPNE7	.	nonsynonymous SNV	CPNE7:NM_014427:exon3:c.T467G:p.L156R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	0.00205608325721	0.0030	0.00139776	0.0006	0.0068	0	0	0	0	0	0	0.0005369	83	154602	rs148102686	0.0002	0.0002	0.0002	0.0001	0.0059	0.0001	0.0001	0.0053	0.0050	0.0059	6.767e-05	0	0	0	0	0	0.0005	0	0.0019	0.0019	0.0021	0.0018	0.0067	0.0018	0.0017	0.0061	0.0058	0.0067	0	0.0006	0	0	0	0	0	0.0024	0.0002	0.185	0.21550	T	0.05	0.48080	T	0.107	0.26081	B	0.041	0.23986	B	0.000191	0.00507	N	2587.340000	1	0.08975	N	0	0.06538	N	2.46	0.14907	T	-0.06	0.07882	N	0.355	0.39659	-1.0521	0.13818	T	0.022	0.09238	T	9	0.0041562617	0.00082	T	0.002056	0.03748	T	0.050	0.13987	.	.	0.324161360171	0.32030	0.4418014463056487	0.44097	0.0844731523093	0.09542	.	.	.	0.037357	0.24446	T	-0.579479	0.00194	T	-0.601851	0.12656	T	0.00323477712251054	0.00034	T	0.218178	0.02774	T	0.1664762	0.36985	0.21401143	0.45934	0.1664762	0.36985	0.21401143	0.45933	-3.179	0.12226	T	.	.	0.072	0.04356	B	.	.	-0.014286	0.04185	1.014	0.62219796245474301	0.06907	0.00736	0.03080	N	AEFBI	0.035620	0.04615	N	-1.25362090518036	0.04252	0.191547	-1.39947953380508	0.03258	0.1516104	0.992033352286259	0.32696	0.695654	0.57023	0	0.588066	0.40923	0	0.723109	0.80598	0	0.622129	0.49086	0	.	.	0.471	-0.942	0.09869	-0.448000	0.06893	0.083000	0.14415	-0.553000	0.04888	0.001000	0.13787	0.000000	0.08366	0.004000	0.06068	.	.	.	781	0.47532	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	315.44	34	chr16	89578966	.	T	G	315.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.513;DP=232;ExcessHet=0;FS=4.678;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.62;ReadPosRankSum=1.21;SOR=1.981	GT:AD:DP:GQ:PL	0/1:14,11:25:99:326,0,395	6	0	1	0
chr16	89637333	89637333	G	A	exonic	DPEP1	.	nonsynonymous SNV	DPEP1:NM_001128141:exon7:c.G721A:p.V241M,DPEP1:NM_004413:exon7:c.G721A:p.V241M	.	10	1510	1	0	1	2	0.000331016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.151	0.0119497498524	0.0017	0.00119808	0.0006	0.0044	0.0016	0	0	7.662e-05	0	0	0.0004851	75	154602	rs148240484	0.0002	0.0002	0.0002	0.0002	0.0039	0.0002	0.0002	0.0034	0.0032	0.0039	0.0011	0.0005	0.0004	0	0.0002	6.745e-05	0.0004	4.637e-05	0.0012	0.0012	0.0012	0.0012	0.0037	0.0010	0.0010	0.0032	0.0030	0.0037	0	0.0010	0.0009	0.0002	0	0	2.94e-05	0.0009	0	0.006	0.61437	D	0.022	0.57587	D	0.973	0.57599	D	0.47	0.46768	P	0.574898	0.05501	N	1.232820	0.999999	0.08975	N	2.515	0.73286	M	1.76	0.25996	T	-1.59	0.38345	N	0.321	0.36569	-0.9089	0.46989	T	0.052	0.22230	T	10	0.017910928	0.00385	T	0.01195	0.30076	T	0.151	0.39764	.	.	0.0138822411134	0.00435	0.5548071472660379	0.55407	0.0277202138358	0.02835	0.247962877154	0.03556	T	0.215419	0.57729	T	-0.561954	0.00247	T	-0.580266	0.14520	T	0.0339012699020705	0.02621	T	0.926707	0.72990	D	0.25286093	0.48304	0.11794223	0.28470	0.25286093	0.48304	0.11794223	0.28470	-7.542	0.57905	D	.	.	0.188	0.42863	B	.;.;.	.;.;.	1.021112	0.14004	10.57	0.93174568262330326	0.22832	0.04381	0.09959	N	AEFBCI	0.092843	0.18792	N	-0.987236714142156	0.08875	0.4178595	-1.24547147592867	0.05198	0.2471062	0.999999952390075	0.74766	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	5.12	-9.02	0.00635	-4.699000	0.00227	-7.701000	0.01103	-1.029000	0.01701	0.000000	0.06391	0.000000	0.08366	0.213000	0.22268	0.3793:0.2478:0.3145:0.0584	5.784	0.17589	814	0.42100	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	715.44	33	chr16	89637333	.	G	A	715.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.957;DP=265;ExcessHet=0;FS=2.145;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.36;ReadPosRankSum=0.848;SOR=1.101	GT:AD:DP:GQ:PL	0/1:34,29:63:99:726,0,850	6	0	1	0
chr17	1578292	1578292	C	T	exonic	SLC43A2	.	nonsynonymous SNV	SLC43A2:NM_001284499:exon8:c.G971A:p.R324Q,SLC43A2:NM_152346:exon12:c.G1382A:p.R461Q,SLC43A2:NM_001284498:exon13:c.G1394A:p.R465Q,SLC43A2:NM_001321364:exon13:c.G1394A:p.R465Q,SLC43A2:NM_001321365:exon13:c.G1394A:p.R465Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.843	0.218424204905	.	0.000199681	3.336e-05	0	0	0	0.0005	0	0.0011	0	3.23e-05	5	154602	rs200077621	3.421e-05	3.42e-05	3.948e-05	2.888e-05	2.319e-05	2.631e-05	2.375e-05	3.85e-06	1.44e-06	0	2.236e-05	0	0	0.0008	0	1.799e-06	0	2.319e-05	5.255e-05	5.249e-05	3.855e-05	6.718e-05	6.543e-05	2.556e-05	1.829e-05	.	.	0	0	6.543e-05	0	0	0.0007	0	0	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.97372	D	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	3.475	0.92503	M	-1.38	0.80301	T	-3.38	0.66780	D	0.967	0.98840	0.603	0.91940	D	0.740	0.91116	D	10	0.7714093	0.77113	D	0.218424	0.87657	D	0.843	0.95101	.	.	0.874943938404	0.87372	0.9433423011227827	0.94316	1.29516274901	0.82890	0.79159116745	0.80685	T	0.614942	0.87850	D	0.381731	0.88820	D	0.393419	0.91898	D	0.942399621009827	0.61654	D	.	.	.	0.72285837	0.79321	0.6580789	0.79974	0.72285837	0.79322	0.6580789	0.79975	-10.718	0.83033	D	.	.	0.985	0.92137	P	.;.;.	.;.;.	5.816352	0.93679	33	0.99936358043391027	0.99621	0.97910	0.78054	D	AEFGBI	0.905839	0.85786	D	0.810544612963638	0.86764	8.990459	0.721601016486152	0.84021	8.176829	0.999999999999985	0.74766	0.661447	0.50134	0	0.658105	0.61773	0	0.570548	0.19454	0	0.567339	0.31927	0	.	.	5.75	5.75	0.90390	7.905000	0.86479	7.613000	0.61989	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.398000	0.26737	0.0:1.0:0.0:0.0	19.553	0.95320	340	0.86005	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	547.83	34	chr17	1578292	.	C	T	547.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.63;DP=239;ExcessHet=0;FS=3.786;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.96;ReadPosRankSum=-1.041;SOR=0.808	GT:AD:DP:GQ:PL	0/1:32,23:55:99:558,0,730	6	0	1	0
chr17	1800208	1800208	C	T	exonic	SMYD4	.	nonsynonymous SNV	SMYD4:NM_052928:exon5:c.G1186A:p.G396R	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.0101102630972	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	6.84e-07	0	1.376e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	0.31987	T	0.121	0.36101	T	0.171	0.28729	B	0.074	0.28220	B	0.236725	0.15801	N	0.624103	1	0.08975	N	2.34	0.67151	M	2.89	0.14531	T	-1.02	0.26843	N	0.167	0.17691	-1.0063	0.28065	T	0.031	0.13374	T	10	0.14065659	0.26734	T	0.01011	0.26258	T	0.085	0.24743	0.314	0.28935	0.42748209135	0.42367	0.4625479779397943	0.46173	0.12648458136	0.14259	0.295255929232	0.09696	T	0.005688	0.05139	T	-0.255656	0.13414	T	-0.605008	0.12394	T	0.188173071388306	0.19736	T	0.566543	0.21547	T	0.04268936	0.06520	0.06142616	0.11860	0.04268936	0.06520	0.06142616	0.11859	-3.61	0.18002	T	.	.	0.086	0.13503	B	.;.	.;.	0.817910	0.11887	8.455	0.87427164609840502	0.17219	0.26979	0.23147	N	AEFBI	0.087522	0.17747	N	-0.649511303009464	0.17476	0.899521	-0.674111003305836	0.17610	0.9371176	0.0905794754303167	0.16113	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	6.17	4.11	0.47350	0.310000	0.19112	-0.138000	0.11547	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.145:0.7158:0.1392:0.0	11.084	0.47295	758	0.50837	SET domain|SET domain;SET domain|SET domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1168.44	35	chr17	1800208	.	C	T	1168.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.654;DP=316;ExcessHet=0;FS=2.385;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.9;ReadPosRankSum=0.394;SOR=0.694	GT:AD:DP:GQ:PL	0/1:67,51:118:99:1179,0,1596	6	0	1	0
chr17	3005959	3005959	C	T	exonic	RAP1GAP2	.	nonsynonymous SNV	RAP1GAP2:NM_001100398:exon15:c.C1232T:p.P411L,RAP1GAP2:NM_001330058:exon16:c.C1220T:p.P407L,RAP1GAP2:NM_015085:exon16:c.C1277T:p.P426L	.	.	.	.	.	.	.	.	.	.	.	3315554	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.237	0.0664559043843	.	0.000199681	8.281e-05	0.0001	0.0006	0	0.0002	1.498e-05	0	0	7.76e-05	12	154602	rs199628910	4.105e-05	4.173e-05	3.268e-05	4.951e-05	0.0005	3.245e-05	2.92e-05	0.0003	0.0003	8.961e-05	0.0005	3.826e-05	2.519e-05	0	0.0005	1.889e-05	0.0001	1.159e-05	4.603e-05	4.594e-05	3.859e-05	5.38e-05	0.0002	2.111e-05	1.528e-05	7.99e-06	2.99e-06	4.82e-05	0	6.552e-05	0	0.0002	0	0	2.941e-05	0.0005	0	0.073	0.35349	T	0.21	0.29153	T	0.081	0.27540	B	0.03	0.21741	B	0.021008	0.26919	N	0.452099	0.997131	0.43655	D	1.945	0.52268	M	-3.25	0.93532	D	-4.83	0.80943	D	0.141	0.16586	0.097	0.84116	D	0.675	0.88744	D	10	0.05378446	0.05624	T	0.066456	0.69879	D	0.237	0.54074	.	.	0.522894238874	0.51935	0.45188695258657624	0.45106	0.531385712823	0.50641	0.381084799767	0.22410	T	0.082536	0.83802	T	-0.26636	0.12166	T	-0.273212	0.47495	T	0.0446530773085331	0.04539	T	0.941106	0.78939	D	0.088105455	0.20541	0.13645558	0.32643	0.088105455	0.20540	0.13645558	0.32642	-8.762	0.66172	D	.	.	0.075	0.12276	B	.;.;.;.;.	.;.;.;.;.	1.775204	0.22574	15.67	0.7189592808153894	0.09786	0.36640	0.25579	N	AEFBI	0.090743	0.18385	N	-0.784908688797638	0.13702	0.676942	-0.801896536992546	0.14450	0.7550445	0.972111466973693	0.29343	0.695654	0.57023	0	0.588066	0.40923	0	0.723109	0.80598	0	0.567892	0.33627	0	.	.	5.34	3.35	0.37468	2.070000	0.41116	0.241000	0.16308	-0.178000	0.10482	0.011000	0.18532	0.000000	0.08366	0.056000	0.15673	0.0:0.7882:0.1365:0.0752	10.203	0.42273	878	0.29785	Rap GTPase activating protein domain|Rap GTPase activating protein domain;.;Rap GTPase activating protein domain|Rap GTPase activating protein domain;.;Rap GTPase activating protein domain|Rap GTPase activating protein domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.005051	0.004076	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	646.44	34	chr17	3005959	.	C	T	646.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.114;DP=240;ExcessHet=0;FS=1.04;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.15;ReadPosRankSum=1.52;SOR=0.457	GT:AD:DP:GQ:PL	0/1:29,29:58:99:657,0,679	6	0	1	0
chr17	3240793	3240793	C	G	exonic	OR1D4	.	unknown	UNKNOWN	.	428	1090	4	0	0	4	0.0018315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0.0105	0.0003	0.0022	0	0.0002	0	0.0001	0.0002305	6	26028	rs767191080	0.0006	0.0007	0.0006	0.0005	0.0162	0.0005	0.0005	0.0151	0.0146	0.0162	0.0004	0	0.0013	0	0.0042	7.83e-05	0.0016	0.0002	0.0028	0.0042	0.0030	0.0026	0.0095	0.0026	0.0025	0.0087	0.0084	0.0095	0	0.0005	0	0.0035	0	0.0034	8.826e-05	0.0043	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	741.53	33	chr17	3240793	.	C	G	741.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.49;DP=340;ExcessHet=0;FS=4.259;MLEAC=1;MLEAF=0.071;MQ=39.87;MQRankSum=-1.13;QD=4.75;ReadPosRankSum=0.8;SOR=0.414	GT:AD:DP:GQ:PL	0/1:111,45:156:99:752,0,2768	6	0	1	0
chr17	3241269	3241269	G	A	exonic	OR1D4	.	unknown	UNKNOWN	.	607	913	0	2	0	4	0.00218579	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs79945696	6.885e-06	0.0017	5.146e-06	8.636e-06	0.0004	2.96e-06	2.14e-06	7.758e-05	3.399e-05	0.0002	0	0	0	0	0.0004	2.306e-06	0	0	8.628e-06	0.0001	0	1.758e-05	1.914e-05	0	0	.	.	0	0	0	0	0	0	0	1.914e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	183.6	33	chr17	3241269	.	G	A	183.6	.	AC=2;AF=0.143;AN=14;DP=182;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=34.68;QD=31.46;SOR=3.611	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,5:5:15:1|1:3241268_T_C:204,15,0:3241268	6	1	0	0
chr17	3291821	3291821	G	T	exonic	OR3A1	.	nonsynonymous SNV	OR3A1:NM_002550:exon1:c.C762A:p.F254L	.	426	1092	4	0	0	4	0.00182815	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.121	0.00264132188494	0.0022	0.00199681	0.0006	0.0062	0.0003	0	0	8.99e-05	0	0	0.0006274	97	154602	rs149299349	0.0003	0.0003	0.0003	0.0002	0.0085	0.0003	0.0002	0.0076	0.0073	0.0085	0.0004	0	0	0	0.0029	2.879e-05	0.0009	3.478e-05	0.0021	0.0021	0.0022	0.0019	0.0070	0.0019	0.0018	0.0064	0.0061	0.0070	0	0.0011	0	0	0	0.0034	2.94e-05	0.0009	0	0.001	0.78490	D	0.058	0.46182	T	0.993	0.65571	D	0.963	0.70837	D	0.000062	0.52346	D	0.000000	0.933627	0.26991	N	1.84	0.48285	L	8.3	0.00261	T	-5.53	0.86073	D	0.587	0.60749	-0.9619	0.38819	T	0.001	0.00378	T	10	0.009197772	0.00208	T	0.002641	0.05377	T	0.121	0.33580	0.622	0.75690	0.562316820711	0.55893	0.19301061887221674	0.19219	0.0516968312214	0.05692	0.489315629005	0.37343	T	0.059653	0.31173	T	-0.497818	0.00588	T	-0.483992	0.24022	T	0.0984520891303399	0.12186	T	0.79842	0.44325	T	0.78402454	0.82902	0.61513245	0.77598	0.78402454	0.82903	0.61513245	0.77599	-6.412	0.49603	T	.	.	0.830	0.82897	P	.;.	.;.	2.751086	0.36062	20.2	0.99821229501280995	0.90414	0.84120	0.43204	D	AEFBCI	0.224738	0.34892	N	0.367668647682924	0.59678	4.149278	0.271799688636224	0.53900	3.556774	2.32346071663641E-5	0.03498	0.525926	0.21836	0	0.573888	0.26702	0	0.615948	0.41167	0	0.564101	0.26826	0	.	.	5.01	1.95	0.25130	0.047000	0.13941	-0.131000	0.11618	0.596000	0.33519	0.973000	0.34540	0.150000	0.23170	0.018000	0.11154	0.2964:0.0:0.7036:0.0	8.493	0.32271	659	0.61982	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.008560	0.005051	0.017663	0.005848	0.000000	0.008621	0.000000	0.000000	0.07143	658.53	33	chr17	3291821	.	G	T	658.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.949;DP=260;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.62;ReadPosRankSum=0.416;SOR=0.701	GT:AD:DP:GQ:PL	0/1:32,30:62:99:669,0,818	6	0	1	0
chr17	4933907	4933923	ACCACCCCAGAGCCCAC	0	exonic	GP1BA	.	.	.	Bernard-Soulier syndrome, type A1 (recessive), Autosomal recessive;Bernard-Soulier syndrome, type A2 (dominant), Autosomal dominant;von Willebrand disease, platelet-type, Autosomal dominant	625	661	31	11	194	247	0.0385455	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	7280.03	66	chr17	4933907	.	ACCACCCCAGAGCCCAC	*	7280.03	.	AC=7;AF=0.5;AN=14;DP=857;ExcessHet=0.3476;FS=12.078;MLEAC=7;MLEAF=0.5;MQ=59.78;MQRankSum=0;QD=12.34;SOR=0.502	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1,32:63:99:1|0:4933876_GGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCA_G:2027,840,707:4933876	1	1	5	0
chr17	7226013	7226013	G	A	exonic	DVL2	.	nonsynonymous SNV	DVL2:NM_004422:exon15:c.C2063T:p.P688L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	.	0.0066	0.00219649	0.0014	0.0163	0.0006	0	0	3.059e-05	0	0	0.0013001	201	154602	rs141433972	0.0004	0.0004	0.0005	0.0004	0.0172	0.0004	0.0004	0.0160	0.0156	0.0172	0.0006	0	0	0	0.0003	6.297e-06	0.0007	2.32e-05	0.0047	0.0047	0.0049	0.0045	0.0165	0.0044	0.0043	0.0155	0.0150	0.0165	0	0.0012	0	0	0	0	1.47e-05	0.0038	0	1.0	0.00964	T	0.743	0.05602	T	0.77	0.43887	P	0.3	0.41053	B	0.005814	0.32491	N	0.293974	1	0.81001	D	2.215	0.62545	M	3.73	0.03982	T	-1.32	0.32991	N	0.379	0.42149	-0.8646	0.50930	T	0.008	0.02679	T	10	0.008080363	0.00183	T	.	.	.	0.062	0.17934	.	.	0.775708395281	0.77364	0.46293720245786524	0.46212	0.748930185141	0.63663	0.619763791561	0.55696	T	0.416906	0.76972	T	-0.474819	0.00794	T	-0.441196	0.28675	T	0.0313612922681034	0.02204	T	0.771423	0.41282	T	0.104987934	0.24821	0.0954656	0.22642	0.104987934	0.24820	0.0954656	0.22641	-5.704	0.43730	T	.	.	0.085	0.20780	B	.;.	.;.	3.063636	0.41155	21.3	0.87202039696875011	0.17060	0.93645	0.58787	D	AEFBHCI	0.595830	0.59023	D	0.167000657250639	0.49619	3.160346	0.262546052904106	0.53367	3.505954	0.999999999999988	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	5.21	5.21	0.72005	2.845000	0.47954	9.985000	0.82948	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:0.0:1.0:0.0	16.291	0.82580	363	0.84772	Dishevelled C-terminal;Dishevelled C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	405.53	39	chr17	7226013	.	G	A	405.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.106;DP=225;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.4;ReadPosRankSum=-2.073;SOR=0.61	GT:AD:DP:GQ:PL	0/1:21,18:39:99:416,0,529	6	0	1	0
chr17	7236157	7236165	TCCTCTTCC	-	exonic	PHF23	.	nonframeshift deletion	PHF23:NM_001284517:exon4:c.561_569del:p.E192_E194del,PHF23:NM_001284518:exon4:c.750_758del:p.E255_E257del,PHF23:NM_024297:exon4:c.762_770del:p.E259_E261del	.	379	1135	7	1	0	9	0.0039491	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0009	0.000998403	0.0009	0.0007	0.0010	0.0021	0.0005	0.0003	0	0.0030	0.0002689	7	26028	rs569508322	0.0006	0.0006	0.0005	0.0007	0.0027	0.0005	0.0005	0.0024	0.0023	0.0006	0.0007	0	0.0013	0.0004	0.0026	0.0004	0.0009	0.0027	0.0009	0.0009	0.0009	0.0009	0.0037	0.0008	0.0007	0.0024	0.0020	0.0011	0.0252	0.0006	0	0.0017	0.0006	0	0.0003	0	0.0037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	695.4	36	chr17	7236156	.	TTCCTCTTCC	T	695.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.832;DP=248;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.91;ReadPosRankSum=0.996;SOR=0.804	GT:AD:DP:GQ:PL	0/1:31,19:50:99:706,0,1193	6	0	1	0
chr17	8174576	8174576	G	C	exonic	TMEM107	.	nonsynonymous SNV	TMEM107:NM_001351278:exon4:c.C315G:p.F105L,TMEM107:NM_001351279:exon4:c.C297G:p.F99L,TMEM107:NM_032354:exon4:c.C315G:p.F105L,TMEM107:NM_183065:exon4:c.C297G:p.F99L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.297	0.00708425211287	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.512e-05	0.0007	1.231e-05	1.795e-05	0.0002	9.9e-06	8.45e-06	1.181e-05	9.6e-06	0	0	0	0	0	0.0002	1.808e-05	1.662e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.325	0.13349	T	0.262	0.23984	T	0.996	0.68779	D	0.98	0.74843	D	0.379952	0.04413	N	1.368220	0.912812	0.81001	D	2.015	0.55033	M	.	.	.	-2.23	0.50012	N	0.572	0.60325	-0.7826	0.56155	T	0.364	0.72460	T	9	0.49340042	0.61124	T	0.007084	0.18759	T	0.297	0.61730	0.424	0.46857	0.0297737177859	0.01360	0.7206597575917854	0.72008	0.875831749287	0.69562	0.769055366516	0.77283	T	0.04577	0.27224	T	0.309962	0.83743	D	0.207462	0.83533	D	0.850467026233673	0.50206	D	0.850115	0.60710	D	0.093706325	0.22014	0.1302798	0.31307	0.093706325	0.22014	0.1302798	0.31307	-3.888	0.22122	T	0.16524561158880893	0.20471	0.788	0.77750	P	.;.;.	.;.;.	3.356563	0.46317	22.3	0.99802010137586417	0.88639	0.78447	0.38704	D	AEFBHC	0.275885	0.39074	N	0.32608846708208	0.57491	3.916634	0.266412907425972	0.53589	3.527069	0.998673458369918	0.37434	0.542737	0.22433	0	0.685571	0.66316	0	0.694767	0.63188	0	0.605231	0.38476	0	.	.	5.92	2.0	0.25495	1.407000	0.34266	4.374000	0.43159	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.1131:0.0:0.8869:0.0	9.233	0.36612	306	0.87689	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	233.65	39	chr17	8174576	.	G	C	233.65	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.93;DP=369;ExcessHet=0.3476;FS=112.656;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=1.24;ReadPosRankSum=1.83;SOR=6.868	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:39,8:47:99:0|1:8174576_G_C:130,0,1437:8174576	5	0	2	0
chr17	8174580	8174580	G	C	exonic	TMEM107	.	nonsynonymous SNV	TMEM107:NM_001351278:exon4:c.C311G:p.S104C,TMEM107:NM_001351279:exon4:c.C293G:p.S98C,TMEM107:NM_032354:exon4:c.C311G:p.S104C,TMEM107:NM_183065:exon4:c.C293G:p.S98C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.220	0.00514127407592	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.237e-05	0.0006	1.368e-05	1.104e-05	2.322e-05	7.73e-06	6.38e-06	6.56e-06	5.05e-06	0	0	0	0	0	0	1.175e-05	4.984e-05	2.322e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.45039	D	0.087	0.40747	T	0.99	0.70673	D	0.799	0.59825	P	0.309680	0.04007	N	1.429840	1	0.81001	D	2.085	0.57729	M	.	.	.	-2.94	0.63090	D	0.696	0.71321	-0.6593	0.62307	T	0.422	0.76690	T	9	0.6877756	0.71667	D	0.005141	0.13063	T	0.220	0.51569	0.418	0.45873	0.0297737177859	0.01360	0.6458913168477342	0.64524	1.47718410031	0.86649	0.608164668083	0.54056	T	0.122346	0.44595	T	0.133133	0.67665	D	-0.0465405	0.67259	D	0.906777620315552	0.56088	D	0.90311	0.66064	D	0.19705051	0.41556	0.15418917	0.36198	0.19705051	0.41556	0.15418917	0.36197	-3.993	0.28872	T	0.5338197544688219	0.60434	0.136	0.34862	B	.;.;.	.;.;.	4.170555	0.62707	24.5	0.98937053651445062	0.48864	0.83468	0.42583	D	AEFBHC	0.336545	0.43463	N	0.614204160208366	0.74073	6.071017	0.629546438358449	0.77097	6.613919	0.999999965267458	0.74766	0.608746	0.35421	0	0.587265	0.34161	0	0.694767	0.63188	0	0.605231	0.38476	0	.	.	5.92	5.92	0.95557	2.188000	0.42243	9.849000	0.81976	0.665000	0.62972	0.996000	0.39380	1.000000	0.68203	0.961000	0.51904	0.0:0.0:1.0:0.0	15.819	0.78400	306	0.87689	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	238.65	39	chr17	8174580	.	G	C	238.65	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-2.439;DP=372;ExcessHet=0.3476;FS=111.142;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=1.28;ReadPosRankSum=2.2;SOR=6.868	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:39,8:47:99:0|1:8174576_G_C:130,0,1437:8174576	5	0	2	0
chr17	8174584	8174584	G	C	exonic	TMEM107	.	nonsynonymous SNV	TMEM107:NM_001351278:exon4:c.C307G:p.L103V,TMEM107:NM_001351279:exon4:c.C289G:p.L97V,TMEM107:NM_032354:exon4:c.C307G:p.L103V,TMEM107:NM_183065:exon4:c.C289G:p.L97V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.203	0.0140421232265	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	7.524e-06	2.722e-06	0	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.56456	D	0.022	0.58089	D	0.1	0.73220	B	0.073	0.78936	B	0.047715	0.23319	N	0.382516	1	0.81001	D	2.42	0.70002	M	.	.	.	-1.69	0.43717	N	0.541	0.63459	-0.6637	0.62113	T	0.281	0.65280	T	9	0.3647289	0.53011	T	0.014042	0.33885	T	0.203	0.48915	0.692	0.82938	0.0138822411134	0.00435	0.8337530561023957	0.83334	1.56021622753	0.88027	0.60396283865	0.53463	T	0.050056	0.28486	T	0.174122	0.71501	D	0.012338	0.71133	D	0.854229768616039	0.50534	D	0.905209	0.66592	D	0.1305304	0.30453	0.13564537	0.32471	0.1305304	0.30453	0.13564537	0.32471	-4.093	0.29353	T	0.5639296545248847	0.63149	0.275	0.55788	B	.;.;.	.;.;.	3.724027	0.53232	23.3	0.99695596692605004	0.80248	0.70041	0.34428	D	AEFBHC	0.133706	0.25346	N	0.00100626654297573	0.41900	2.514694	0.0461761497681474	0.41888	2.524	0.998454773613857	0.36996	0.608746	0.35421	0	0.587265	0.34161	0	0.694767	0.63188	0	0.605231	0.38476	0	.	.	5.92	2.34	0.28071	0.677000	0.24942	4.292000	0.42914	0.665000	0.62972	0.996000	0.39380	1.000000	0.68203	0.984000	0.60418	0.18:0.0:0.6634:0.1565	5.934	0.18396	306	0.87689	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	255.27	39	chr17	8174584	.	G	C	255.27	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.921;DP=417;ExcessHet=0.3476;FS=178.848;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=1.43;ReadPosRankSum=1.76;SOR=7.613	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:31,8:42:99:.:.:145,0,1395:.	4	0	2	1
chr17	16948819	16948819	G	A	exonic	TNFRSF13B	.	nonsynonymous SNV	TNFRSF13B:NM_012452:exon3:c.C364T:p.R122W	Immunodeficiency, common variable, 2, Autosomal recessive, Autosomal dominant;Immunoglobulin A deficiency 2	1	1516	5	0	0	5	0.00164636	.	.	.	574316	Immunodeficiency,_common_variable,_2	MONDO:MONDO:0009413,MedGen:C3150354,OMIM:240500,Orphanet:1572	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.201	0.0306280925825	.	.	0.0003	0	0.0003	0	0	0.0005	0	0.0001	0.0002652	41	154602	rs201124889	0.0002	0.0002	0.0001	0.0002	0.0004	0.0001	0.0001	0.0002	0.0002	2.987e-05	0.0004	0	0	0.0002	0.0002	0.0002	0.0002	6.956e-05	6.572e-05	6.567e-05	2.569e-05	0.0001	0.0002	3.517e-05	2.617e-05	2.846e-05	1.858e-05	2.413e-05	0	0	0	0	0.0003	0	7.35e-05	0	0.0002	0.002	0.72154	D	0.004	0.76473	D	0.078	0.24389	B	0.018	0.18489	B	0.165599	0.03072	N	1.858000	1	0.08975	N	1.78	0.46185	L	-3.51	0.94693	D	-2.91	0.60982	D	0.267	0.39760	-0.3265	0.74237	T	0.655	0.87993	D	10	0.055140167	0.05980	T	0.030628	0.52897	D	0.201	0.48592	0.233	0.16155	0.504907739247	0.50128	0.30778905132803314	0.30691	0.0733636004549	0.08227	0.265842139721	0.05607	T	0.074946	0.86211	T	-0.198565	0.21012	T	-0.206846	0.53996	T	0.0890177278841217	0.11101	T	0.677732	0.28664	T	0.1954241	0.41330	0.12751001	0.30693	0.1954241	0.41330	0.12751001	0.30693	-4.619	0.34766	T	.	.	0.101	0.17573	B	.;.;.	.;.;.	2.443986	0.31461	18.75	0.43935248932103221	0.03343	0.00606	0.02697	N	AEFDGBI	0.068436	0.13501	N	-1.05107831441967	0.07566	0.3519261	-1.15213914051359	0.06729	0.3249069	0.9998796924245	0.44625	0.722319	0.85440	0	0.698795	0.70079	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.96	-2.88	0.05342	-0.302000	0.08259	0.720000	0.21004	-0.923000	0.02187	0.000000	0.06391	0.012000	0.20211	0.024000	0.12247	0.1797:0.0:0.2208:0.5995	5.487	0.16049	536	0.73233	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.07143	1208.45	46	chr17	16948819	.	G	A	1208.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.15;DP=360;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.15;ReadPosRankSum=0.615;SOR=0.697	GT:AD:DP:GQ:PL	0/1:80,52:132:99:1219,0,1797	6	0	1	0
chr17	17202856	17202856	C	T	exonic	PLD6	.	nonsynonymous SNV	PLD6:NM_178836:exon2:c.G670A:p.G224R	.	435	1084	3	0	0	3	0.00138185	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.0127374698749	7.7e-05	.	4.119e-05	0	0	0	0	4.496e-05	0	0.0001	4.53e-05	7	154602	rs371273427	1.505e-05	1.505e-05	1.089e-05	1.925e-05	0.0002	9.85e-06	8.41e-06	2.194e-05	1.43e-05	0	0	0	0	0	0.0002	1.169e-05	4.967e-05	5.797e-05	6.573e-06	6.567e-06	0	1.345e-05	2.414e-05	0	0	.	.	2.414e-05	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.0	0.92824	D	0.055	0.22733	B	0.002	0.06944	B	0.201562	0.03324	N	1.715750	1	0.08975	N	0	0.06538	N	1.39	0.33842	T	-0.24	0.10833	N	0.069	0.04188	-0.9835	0.34187	T	0.061	0.25492	T	10	0.051155955	0.04953	T	0.012737	0.31575	T	0.027	0.05988	0.304	0.27325	0.0716867268079	0.06686	0.40891705604037093	0.40807	0.637666034433	0.57498	0.285414814949	0.08258	T	0.074311	0.34908	T	-0.42486	0.01593	T	-0.691692	0.06292	T	0.0739518880462368	0.09195	T	0.289471	0.05256	T	0.09912537	0.23390	0.07904695	0.17760	0.09912537	0.23390	0.07904695	0.17759	-3.052	0.10752	T	.	.	0.085	0.10159	B	.	.	1.418219	0.18343	13.69	0.79757766308990818	0.12887	0.06388	0.12390	N	AEFBCI	0.049190	0.08473	N	-1.10668226496479	0.06523	0.300522	-1.1305436541137	0.07122	0.3452636	0.692478706973162	0.22604	0.67177	0.52595	0	0.702456	0.74545	0	0.576033	0.28219	0	0.635551	0.53088	0	.	.	5.01	-0.301	0.12165	0.242000	0.17862	4.314000	0.42978	-0.048000	0.17318	0.001000	0.13787	1.000000	0.68203	0.004000	0.06068	0.5152:0.4046:0.0802:0.0	7.245	0.25294	725	0.54935	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.07143	507.44	35	chr17	17202856	.	C	T	507.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.912;DP=224;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.03;ReadPosRankSum=-1.153;SOR=0.665	GT:AD:DP:GQ:PL	0/1:26,20:46:99:518,0,679	6	0	1	0
chr17	18978063	18978063	G	T	exonic	FAM83G	.	nonsynonymous SNV	FAM83G:NM_001039999:exon5:c.C1603A:p.P535T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.00466007171668	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.324	0.13392	T	0.075	0.42794	T	0.001	0.07471	B	0.001	0.04355	B	0.330574	0.04128	N	1.477610	1	0.08975	N	1.2	0.30300	L	2.77	0.11407	T	-0.22	0.10480	N	0.096	0.08506	-0.9690	0.37407	T	0.026	0.11220	T	10	0.05475375	0.05878	T	0.00466	0.11566	T	0.073	0.21317	0.256	0.19689	0.21279746466	0.20884	0.1205643876697132	0.11983	0.203462743921	0.22764	0.260693132877	0.04973	T	0.005399	0.04851	T	-0.294402	0.09199	T	-0.660664	0.08221	T	0.0782754821195694	0.09764	T	0.490351	0.15073	T	0.036517985	0.04506	0.03764092	0.03459	0.036517985	0.04506	0.03764092	0.03459	-4.834	0.34985	T	.	.	0.067	0.03128	B	.;.	.;.	0.420356	0.07912	4.615	0.68381878435913912	0.08641	0.07369	0.13389	N	AEFDBI	0.100855	0.20269	N	-0.9746096955117	0.09149	0.4317818	-1.09201001371875	0.07856	0.3838775	0.691257233659854	0.22591	0.706548	0.73137	0	0.577304	0.33150	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.14	-3.64	0.04225	0.489000	0.22096	0.380000	0.17770	0.674000	0.70861	0.002000	0.15269	0.011000	0.20116	0.229000	0.22707	0.2346:0.249:0.2661:0.2503	0.371	0.00353	819	0.41190	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	431.45	33	chr17	18978063	.	G	T	431.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.937;DP=248;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=6.64;ReadPosRankSum=-0.618;SOR=0.682	GT:AD:DP:GQ:PL	0/1:42,23:65:99:442,0,1100	6	0	1	0
chr17	19341269	19341269	G	A	exonic	B9D1	.	nonsynonymous SNV	B9D1:NM_001321217:exon7:c.C530T:p.A177V	Joubert syndrome 27, Autosomal recessive	67	1452	3	0	0	3	0.00103199	.	.	.	3185249	B9D1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	0.00279553	0	0	.	0	.	0	.	.	0.0019594	51	26028	rs190584073	0.0005	0.0005	0.0006	0.0005	0.0156	0.0005	0.0005	0.0134	0.0126	0.0003	0.0156	0.0003	0.0006	0.0095	0.0014	0.0001	0.0013	0.0022	0.0024	0.0024	0.0019	0.0029	0.0122	0.0022	0.0021	0.0107	0.0102	0.0003	0	0.0122	0	0	0.0100	0	0.0004	0.0062	0.0027	.	.	.	0.054	0.47097	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.2	0.66113	T	.	.	.	0.112	0.09914	.	.	.	.	.	.	.	0.006423712	0.00146	T	.	.	.	.	.	.	.	0.818956124401	0.81724	.	.	.	.	.	.	.	.	.	.	-0.549196	0.00295	T	-0.548685	0.17451	T	.	.	.	0.329367	0.06881	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.171	0.37596	B	.	.	0.087733	0.04920	1.498	0.36246847435667495	0.02321	0.02162	0.06348	N	AEFDBCI	0.036366	0.04834	N	.	.	.	.	.	.	0.998421950420108	0.36942	0.536635	0.22144	0	0.588066	0.40923	0	0.489635	0.07774	0	0.664235	0.64389	0	.	.	1.66	-0.615	0.11005	0.607000	0.23906	0.464000	0.18647	-0.212000	0.08331	0.003000	0.16062	0.006000	0.19429	0.004000	0.06068	0.2027:0.0:0.4901:0.3072	2.134	0.03530	711	0.56613	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.07143	342.44	34	chr17	19341269	.	G	A	342.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.286;DP=221;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.07;ReadPosRankSum=-0.56;SOR=0.693	GT:AD:DP:GQ:PL	0/1:20,14:34:99:353,0,527	6	0	1	0
chr17	20205163	20205163	T	A	exonic	SPECC1	.	nonsynonymous SNV	SPECC1:NM_001033554:exon2:c.T871A:p.S291T,SPECC1:NM_001033555:exon2:c.T871A:p.S291T,SPECC1:NM_001243438:exon2:c.T871A:p.S291T,SPECC1:NM_001033553:exon4:c.T1114A:p.S372T,SPECC1:NM_001243439:exon4:c.T1114A:p.S372T,SPECC1:NM_152904:exon4:c.T1114A:p.S372T	.	421	1095	6	0	0	6	0.00273224	.	.	.	2242751	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.150	0.0140032175671	.	0.000199681	0.0003	0	8.651e-05	0	0	0.0002	0.0011	0.0013	0.0002458	38	154602	rs202164673	0.0002	0.0002	0.0001	0.0002	0.0035	0.0001	0.0001	0.0023	0.0019	0	4.472e-05	0	0	1.872e-05	0.0035	7.824e-05	0.0003	0.0013	7.885e-05	7.876e-05	3.858e-05	0.0001	0.0015	4.497e-05	3.512e-05	0.0007	0.0005	0	0	0	0	0	0	0.0068	4.411e-05	0	0.0015	0.199	0.20532	T	0.07	0.45961	T	0.996	0.77913	D	0.899	0.84481	P	0.000001	0.84330	D	0.096141	0.999012	0.81001	D	2.175	0.60977	M	3.29	0.06445	T	-0.89	0.24026	N	0.581	0.60241	-1.1903	0.00239	T	0.050	0.21339	T	10	0.04552895	0.03634	T	0.014003	0.33816	T	0.150	0.39571	.	.	0.424073947737	0.42026	0.149401718784845	0.14862	0.34671068729	0.36577	0.566220164299	0.48144	T	0.041054	0.25731	T	-0.356165	0.04351	T	-0.324916	0.42033	T	0.11089606974078	0.13515	T	0.833717	0.53695	T	0.1611102	0.36098	0.13529171	0.32396	0.1611102	0.36098	0.13529171	0.32395	-6.193	0.48500	T	.	.	0.087	0.20857	B	.;.;.;.;.;.	.;.;.;.;.;.	3.603827	0.50915	23.0	0.99411727101669356	0.63310	0.88578	0.48571	D	AEFDBI	0.418820	0.48630	N	0.606541019846691	0.73589	5.990683	0.577731892047184	0.73346	5.95553	0.999999557786943	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.11	5.11	0.69188	4.810000	0.62289	7.886000	0.72778	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.928000	0.46473	0.0:0.0:0.0:1.0	13.176	0.59048	576	0.70006	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.004076	0.000000	0.000000	0.000000	0.003049	0.000000	0.07143	508.53	38	chr17	20205163	.	T	A	508.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.575;DP=310;ExcessHet=0;FS=1.037;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.25;ReadPosRankSum=-0.736;SOR=0.941	GT:AD:DP:GQ:PL	0/1:30,25:55:99:519,0,731	6	0	1	0
chr17	20232380	20232380	G	A	exonic	SPECC1	.	nonsynonymous SNV	SPECC1:NM_001033554:exon5:c.G2083A:p.V695M,SPECC1:NM_001033555:exon5:c.G2083A:p.V695M,SPECC1:NM_001243438:exon5:c.G2083A:p.V695M,SPECC1:NM_001033553:exon7:c.G2326A:p.V776M,SPECC1:NM_001243439:exon7:c.G2326A:p.V776M,SPECC1:NM_152904:exon7:c.G2326A:p.V776M	.	419	1060	41	2	0	45	0.0207852	.	.	.	2811143	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.057	0.00386095762704	0.0006	0.00139776	0.0022	0	0.0014	0	0	0.0017	0.0071	0.0073	0.0015653	242	154602	rs145743421	0.0012	0.0012	0.0009	0.0014	0.0192	0.0011	0.0011	0.0163	0.0152	0.0003	0.0008	0.0002	0	0.0001	0.0192	0.0007	0.0018	0.0067	0.0009	0.0009	0.0007	0.0010	0.0060	0.0007	0.0007	0.0043	0.0037	0.0001	0	0.0008	0	0	0	0.0170	0.0011	0.0024	0.0060	0.232	0.49117	T	0.073	0.43159	T	0.148	0.27908	B	0.058	0.26451	B	.	.	.	.	0.999962	0.18878	N	1.445	0.36358	L	0.87	0.46412	T	-0.13	0.12099	N	0.225	0.25622	-1.0323	0.19713	T	0.032	0.13942	T	9	0.0046572387	0.00097	T	0.003861	0.09055	T	0.057	0.16321	.	.	0.307966526162	0.30417	0.10910592302382832	0.10839	0.0941472671673	0.10632	0.285829782486	0.08318	T	0.01536	0.12902	T	-0.518326	0.00450	T	-0.513171	0.20990	T	0.0181061043531632	0.00533	T	0.755524	0.37862	T	0.023999518	0.01190	0.05838911	0.10780	0.023999518	0.01190	0.05838911	0.10779	-5.403	0.41407	T	.	.	0.100	0.22135	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.383666	0.17953	13.47	0.9110648896828234	0.20359	0.58695	0.30711	D	AEFBCI	0.106355	0.21223	N	-0.95251773179994	0.09636	0.4569352	-0.857123535416495	0.13117	0.6786628	0.107333532721448	0.16553	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.564101	0.26826	0	.	.	4.22	0.748	0.17525	2.643000	0.46271	5.093000	0.47370	-0.797000	0.03199	1.000000	0.71638	1.000000	0.68203	0.132000	0.19645	0.3204:0.0925:0.1737:0.4134	1.028	0.01437	580	0.69689	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.011759	0.005263	0.023098	0.002959	0.000000	0.008621	0.015625	0.003906	0.07143	977.44	36	chr17	20232380	.	G	A	977.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.341;DP=248;ExcessHet=0;FS=2.195;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.51;ReadPosRankSum=-1.897;SOR=1.045	GT:AD:DP:GQ:PL	0/1:27,36:63:99:988,0,683	6	0	1	0
chr17	27648858	27648858	A	G	exonic	LGALS9	.	nonsynonymous SNV	LGALS9:NM_001330163:exon9:c.A685G:p.T229A,LGALS9:NM_002308:exon10:c.A848G:p.H283R,LGALS9:NM_009587:exon11:c.A944G:p.H315R	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.00932369467253	.	.	8.237e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs746863921	1.71e-05	1.71e-05	1.634e-05	1.788e-05	2.988e-05	1.174e-05	9.92e-06	1.295e-05	1.106e-05	2.988e-05	0	0	0	0	0	1.979e-05	3.313e-05	0	6.638e-06	6.588e-06	0	1.358e-05	1.482e-05	0	0	.	.	0	0	0	0	0	0	0	1.482e-05	0	0	0.069	0.35537	T	0.295	0.20680	T	0.009	0.15093	B	0.019	0.18783	B	0.173804	0.17297	N	0.604873	1	0.18198	N	1.845	0.48678	L	3.52	0.04905	T	-5.37	0.84882	D	0.066	0.04790	-0.9986	0.30311	T	0.026	0.11043	T	10	0.13272226	0.25260	T	0.009324	0.24459	T	0.060	0.17295	0.572	0.69564	0.336647302497	0.33275	0.4089317772762122	0.40809	0.48751925446	0.47580	0.377753287554	0.21938	T	0.187975	0.54175	T	-0.367804	0.03706	T	-0.584574	0.14139	T	0.056454671841922	0.06598	T	0.60444	0.24114	T	0.25218344	0.48232	0.24051756	0.49427	0.25218344	0.48232	0.24051756	0.49426	-11.443	0.84037	D	.	.	0.102	0.18080	B	.;.	.;.	0.793343	0.11639	8.224	0.83350189740517189	0.14678	0.14252	0.18304	N	AEFBCI	0.076091	0.15298	N	-0.80376899030644	0.13214	0.6493814	-0.890354270726465	0.12321	0.6331415	0.00541169719213042	0.10931	0.732398	0.92422	0	0.702456	0.74545	0	0.576033	0.28219	0	0.727631	0.95156	0	.	.	4.63	0.857	0.18162	0.802000	0.26730	0.819000	0.21831	0.733000	0.85838	0.000000	0.06391	0.000000	0.08366	0.031000	0.13245	0.6129:0.1528:0.0871:0.1471	2.571	0.04503	265	0.89590	Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition domain;Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000572	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.07143	412.44	33	chr17	27648858	.	A	G	412.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.234;DP=232;ExcessHet=0;FS=2.48;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.59;ReadPosRankSum=0.052;SOR=1.134	GT:AD:DP:GQ:PL	0/1:27,21:48:99:423,0,585	6	0	1	0
chr17	35127179	35127179	G	T	exonic	FNDC8	.	nonsynonymous SNV	FNDC8:NM_017559:exon2:c.G347T:p.G116V	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.245	0.00688920088767	0.0009	0.000199681	0.0009	0.0003	8.637e-05	0	0.0047	0.0009	0	0.0012	0.0008732	135	154602	rs147725468	0.0011	0.0011	0.0011	0.0011	0.0012	0.0011	0.0010	0.0011	0.0011	8.961e-05	8.944e-05	0	0	0.0037	0.0005	0.0012	0.0007	0.0009	0.0007	0.0007	0.0005	0.0008	0.0008	0.0006	0.0005	0.0004	0.0004	0.0002	0	0.0002	0	0	0.0044	0	0.0006	0	0.0008	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.984	0.76113	D	0.000111	0.50451	D	0.000000	0.999088	0.46032	D	1.975	0.53506	M	1.28	0.35960	T	-6.17	0.90254	D	0.618	0.63374	-0.9285	0.44357	T	0.141	0.46110	T	10	0.013803124	0.00292	T	0.006889	0.18233	T	0.245	0.55201	.	.	0.185906805712	0.18197	0.35156934571033516	0.35070	0.595800269434	0.54840	0.384744167328	0.22927	T	0.238032	0.60585	T	-0.152089	0.27985	T	0.00290044	0.70524	D	0.117295421700762	0.14162	T	0.743826	0.36376	T	0.88657	0.90215	0.8498335	0.91493	0.88657	0.90216	0.8498335	0.91493	-4.73	0.33765	T	.	.	0.321	0.54587	B	.	.	4.080003	0.60688	24.2	0.99798327215906912	0.88372	0.60328	0.31164	D	AEFDBCI	0.299734	0.40871	N	0.483256891235457	0.66114	4.908245	0.466649020748431	0.65792	4.868908	0.999985816397575	0.51787	0.554377	0.28877	0	0.550933	0.16991	0	0.536957	0.11973	0	0.567892	0.33627	0	.	.	5.38	5.38	0.77279	4.224000	0.58391	4.863000	0.45489	0.676000	0.76740	0.998000	0.41325	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	14.503	0.67319	924	0.18029	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	1076.46	33	chr17	35127179	.	G	T	1076.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.342;DP=268;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.55;ReadPosRankSum=0.748;SOR=0.788	GT:AD:DP:GQ:PL	0/1:32,42:74:99:1087,0,724	6	0	1	0
chr17	37257713	37257713	C	T	exonic	ACACA	.	nonsynonymous SNV	ACACA:NM_198837:exon12:c.G1531A:p.E511K,ACACA:NM_198838:exon13:c.G1471A:p.E491K,ACACA:NM_198834:exon14:c.G1816A:p.E606K,ACACA:NM_198836:exon14:c.G1705A:p.E569K,ACACA:NM_198839:exon18:c.G1705A:p.E569K	Acetyl-CoA carboxylase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.692	0.0171503242482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.439	0.17696	T	0.746	0.44790	P	0.557	0.55725	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.885	0.50048	L	.	.	.	.	.	.	0.862	0.85872	0.107	0.84300	D	0.637	0.87289	D	10	0.7375028	0.74723	D	0.01715	0.38730	T	.	.	0.467	0.53891	0.877869702975	0.87668	0.9836152231955558	0.98353	.	.	0.872255206108	0.92889	D	0.780159	0.94189	D	0.432308	0.91648	D	0.383204	0.91545	D	0.977236747741699	0.71748	D	.	.	.	0.81459284	0.84857	0.6431959	0.79147	0.81459284	0.84859	0.6431959	0.79148	-9.549	0.74745	D	.	.	0.857	0.80134	P	.;.;.;.	.;.;.;.	5.294357	0.88888	29.8	0.9986442591158583	0.94276	0.98597	0.84519	D	AEFBI	0.820385	0.74119	D	0.627107990343815	0.74894	6.211086	0.69699622420893	0.82148	7.696462	0.999999997971713	0.74766	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.733575	0.97253	0	.	.	5.93	5.93	0.95888	7.905000	0.86479	7.642000	0.63248	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	19.342	0.94335	689	0.59000	.;.;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4286	2132.02	55	chr17	37257713	.	C	T	2132.02	.	AC=6;AF=0.429;AN=14;BaseQRankSum=0.609;DP=417;ExcessHet=8.2628;FS=426.457;MLEAC=6;MLEAF=0.429;MQ=60;MQRankSum=0;QD=5.32;ReadPosRankSum=0.389;SOR=10.646	GT:AD:DP:GQ:PL	0/1:16,22:38:82:268,0,82	1	0	6	0
chr17	39662879	39662879	C	T	exonic	STARD3	.	nonsynonymous SNV	STARD3:NM_001165938:exon14:c.C1255T:p.R419C,STARD3:NM_001165937:exon15:c.C1309T:p.R437C,STARD3:NM_006804:exon15:c.C1309T:p.R437C	.	416	1104	2	0	0	2	0.000904977	.	.	.	2359249	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.682	0.236230634806	0.0003	0.000199681	0.0003	9.669e-05	0.0002	0	0	0.0005	0.0011	6.177e-05	0.0002781	43	154602	rs151032154	0.0002	0.0002	0.0002	0.0002	0.0017	0.0002	0.0002	0.0009	0.0007	0.0003	0.0002	0	0	3.777e-05	0.0017	0.0002	0.0004	0.0002	0.0001	0.0001	0.0001	0.0001	0.0003	8.158e-05	6.716e-05	0.0002	0.0001	2.404e-05	0	0	0	0	0	0	0.0003	0	0	0.038	0.78490	D	0.002	0.92824	D	0.999	0.77913	D	0.936	0.67150	D	0.000020	0.62929	D	0.113059	1	0.81001	D	2.98	0.85499	M	-1.25	0.79072	T	-3.44	0.76822	D	0.695	0.70000	0.359	0.88482	D	0.630	0.87021	D	10	0.6281153	0.68360	D	0.236231	0.88490	D	0.682	0.88348	.	.	0.93766743337	0.93701	0.6844036259354078	0.68379	1.34388094395	0.83920	0.625369429588	0.56489	T	0.479869	0.80910	T	0.0430026	0.57437	T	0.168932	0.81347	D	0.240044757723808	0.22421	T	0.959604	0.84807	D	0.43193397	0.62878	0.23261054	0.48426	0.43193397	0.62879	0.23261054	0.48425	-9.303	0.71437	D	.	.	0.675	0.73309	P	.;.;.	.;.;.	5.987315	0.94269	34	0.9991967213201034	0.98654	0.94904	0.62734	D	AEFBCI	0.608226	0.59789	D	0.705140474828066	0.79970	7.191583	0.655859153591804	0.79046	7.000712	0.999999999441459	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.26897	0.05253	2	0.714379	0.83352	0	.	.	5.42	5.42	0.78666	5.596000	0.67261	7.670000	0.64725	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.809000	0.38129	0.1538:0.8462:0.0:0.0	13.757	0.62428	620	0.66037	START domain|START domain|START domain|StAR-related lipid transfer protein 3, C-terminal;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.006793	0.000000	0.000000	0.000000	0.003049	0.003788	0.07143	938.44	40	chr17	39662879	.	C	T	938.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.286;DP=259;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.35;ReadPosRankSum=0.745;SOR=0.783	GT:AD:DP:GQ:PL	0/1:35,41:76:99:949,0,775	6	0	1	0
chr17	43830127	43830127	C	T	exonic	MPP3	.	nonsynonymous SNV	MPP3:NM_001353080:exon7:c.G227A:p.R76H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.9e-05	0.000199681	8.236e-05	0	9.994e-05	0	0	0	0	0.0009	9.06e-05	14	154602	rs373720389	0.0001	0.0001	7.523e-05	0.0001	0.0013	8.771e-05	8.249e-05	0.0011	0.0010	3.321e-05	0.0001	0	2.639e-05	0	0	3.116e-05	0.0001	0.0013	5.91e-05	5.905e-05	2.57e-05	9.402e-05	0.0015	3.075e-05	2.209e-05	0.0007	0.0005	0	0	0	0	0	0	0.0034	1.47e-05	0	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	241.63	34	chr17	43830127	.	C	T	241.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.458;DP=195;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.98;ReadPosRankSum=1.81;SOR=0.426	GT:AD:DP:GQ:PL	0/1:11,11:22:99:252,0,256	6	0	1	0
chr17	48960949	48960949	C	T	exonic	GIP	.	nonsynonymous SNV	GIP:NM_004123:exon5:c.G389A:p.R130Q	.	0	1521	1	0	0	1	0.000328623	.	.	.	3977666	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.021	0.00610499777471	.	0.000199681	0.0001	0.0001	0	0	0.0003	0.0001	0	9.006e-05	6.47e-05	10	154602	rs148732781	4.185e-05	4.173e-05	4.228e-05	4.141e-05	0.0005	3.32e-05	3.009e-05	0.0001	7.546e-05	0.0002	4.534e-05	0	0	0.0002	0.0005	2.882e-05	6.635e-05	4.712e-05	3.941e-05	3.937e-05	2.571e-05	5.373e-05	0.0002	1.715e-05	1.129e-05	1.171e-05	6.25e-06	4.813e-05	0	0	0	0	0	0	4.411e-05	0	0.0002	0.133	0.26409	T	0.043	0.49942	D	0.066	0.23586	B	0.004	0.10090	B	0.114401	0.19276	N	0.508245	1	0.08975	N	1.24	0.30952	L	1.67	0.27331	T	-0.8	0.22078	N	0.131	0.12627	-1.0502	0.14341	T	0.040	0.17149	T	10	0.039033085	0.02364	T	0.006105	0.15964	T	0.021	0.04004	0.222	0.14518	0.231873229951	0.22792	0.060738083930764415	0.06013	0.0355719393333	0.03753	0.252134382725	0.03996	T	0.24657	0.61606	T	-0.483437	0.00706	T	-0.739209	0.03924	T	0.0494403654592919	0.05402	T	0.608539	0.22995	T	0.04828089	0.08389	0.0488897	0.07357	0.04828089	0.08389	0.0488897	0.07357	-3.46	0.15876	T	.	.	0.101	0.17657	B	.	.	1.796726	0.22840	15.78	0.99204552041356531	0.55381	0.01377	0.04694	N	AEFDBHCIJ	0.030116	0.02969	N	-0.915192070651791	0.10487	0.5013353	-0.952729241925247	0.10859	0.549695	0.999992552315293	0.74766	0.652421	0.48094	0	0.563428	0.19063	0	0.64067	0.45733	0	0.631631	0.49550	0	.	.	4.46	0.683	0.17162	0.243000	0.17880	0.035000	0.13787	0.595000	0.32841	0.001000	0.13787	0.000000	0.08366	0.144000	0.20092	0.0:0.4327:0.0:0.5673	5.838	0.17873	645	0.63593	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	808.49	33	chr17	48960949	.	C	T	808.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.187;DP=248;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.08;ReadPosRankSum=-0.397;SOR=0.752	GT:AD:DP:GQ:PL	0/1:37,36:73:99:819,0,817	6	0	1	0
chr17	57849279	57849279	G	T	exonic	MRPS23	.	nonsynonymous SNV	MRPS23:NM_016070:exon2:c.C176A:p.P59H	.	432	1064	24	2	0	28	0.012987	.	.	.	1521760	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.074	.	0.0007	0.00678914	0.0066	0.0003	0.0013	0.0002	0.0006	0.0009	0.0088	0.0432	0.0056468	873	154602	rs138577447	0.0032	0.0032	0.0020	0.0045	0.0428	0.0031	0.0031	0.0417	0.0412	0.0003	0.0013	0.0001	0.0001	0.0007	0.0050	0.0006	0.0036	0.0428	0.0018	0.0018	0.0011	0.0026	0.0404	0.0016	0.0016	0.0358	0.0340	0.0002	0	0.0007	0	0.0002	0.0004	0	0.0007	0.0033	0.0404	0.072	0.34982	T	0.12	0.37589	T	0.53	0.37698	P	0.34	0.42389	B	0.003934	0.00993	N	2.515440	1	0.08975	N	2.14	0.59869	M	.	.	.	-3.22	0.64939	D	0.226	0.26233	-0.8943	0.48549	T	0.124	0.42715	T	9	0.0032068193	0.00054	T	.	.	.	0.074	0.21613	.	.	0.177238962908	0.17366	0.40213195719202327	0.40129	0.205357618407	0.22955	0.246498137712	0.03408	T	0.202903	0.56122	T	-0.56619	0.00233	T	-0.553934	0.16949	T	0.0441978682095403	0.04457	T	0.30107	0.05662	T	0.14598365	0.33438	0.14489195	0.34383	0.122028075	0.28682	0.14489195	0.34382	-4.749	0.33991	T	.	.	0.093	0.14015	B	.;.	.;.	1.153333	0.15417	11.83	0.98240022129641202	0.39476	0.03693	0.08968	N	AEFDGBHCI	0.046271	0.07664	N	-0.581543404306759	0.19506	1.021385	-0.734924336193929	0.16093	0.8497054	0.999999999997814	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.685571	0.62057	0	0.638787	0.57140	0	.	.	5.86	-5.03	0.02751	-0.567000	0.06007	-1.492000	0.05317	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.947000	0.49155	0.2879:0.0:0.1395:0.5726	5.718	0.17242	131	0.94738	Ribosomal protein S23/S25, mitochondrial;Ribosomal protein S23/S25, mitochondrial	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.008560	0.005051	0.001359	0.008772	0.000000	0.000000	0.006098	0.030303	0.07143	577.45	35	chr17	57849279	.	G	T	577.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.697;DP=229;ExcessHet=0;FS=5.608;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.9;ReadPosRankSum=1.11;SOR=0.993	GT:AD:DP:GQ:PL	0/1:28,25:53:99:588,0,692	6	0	1	0
chr17	61456662	61456662	G	A	exonic	TBX4	.	nonsynonymous SNV	TBX4:NM_018488:exon1:c.G172A:p.A58T,TBX4:NM_001321120:exon2:c.G172A:p.A58T	Ischiocoxopodopatellar syndrome, Autosomal dominant	26	1495	1	0	0	1	0.000334336	.	.	.	329217	Coxopodopatellar_syndrome	MONDO:MONDO:0007841,MedGen:C1840061,OMIM:147891,Orphanet:1509	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.193	0.265865077748	.	0.000399361	0.0008	0	0	0	.	0	0	0.0012	5.82e-05	9	154602	rs575407008	6.157e-05	0.0001	3.246e-05	9.219e-05	0.0014	5.017e-05	4.595e-05	0.0011	0.0010	0	0	0	3.798e-05	0	0.0003	2.035e-06	6.197e-05	0.0014	5.919e-05	5.906e-05	5.146e-05	6.727e-05	0.0017	3.08e-05	2.212e-05	0.0008	0.0006	2.408e-05	0	0	0	0	0	0	0	0	0.0017	0.154	0.24277	T	0.416	0.14284	T	0.0	0.02946	B	0.0	0.01387	B	0.089779	0.20410	N	0.541272	1	0.08975	N	0	0.06538	N	-2.06	0.85875	D	-0.18	0.09796	N	0.176	0.19459	-0.9280	0.44429	T	0.257	0.62710	T	9	0.017256826	0.00367	T	0.265865	0.89689	D	0.193	0.47281	0.405	0.43738	0.549036597592	0.54559	0.26727736705973515	0.26640	0.388830014822	0.40140	0.752959191799	0.74883	T	0.072455	0.34457	T	-0.0948661	0.37271	T	-0.374045	0.36418	T	0.0198646840941057	0.00688	T	0.536146	0.17993	T	0.04898356	0.08626	0.10324112	0.24765	0.061691523	0.12801	0.08736175	0.20301	-5.494	0.41812	T	.	.	0.079	0.07365	B	.;.;.;.	.;.;.;.	1.150286	0.15382	11.81	0.98137512893857815	0.38572	0.10085	0.15687	N	AEFDBCI	0.031797	0.03470	N	-0.914513858485043	0.10502	0.5021602	-0.905720561274289	0.11959	0.6124128	0.999981034855971	0.51787	0.59774	0.34471	0	0.563428	0.19063	0	0.596491	0.31596	0	0.63947	0.58350	0	.	.	2.92	2.92	0.32998	0.085000	0.14759	-0.052000	0.12533	-0.220000	0.07995	0.001000	0.13787	0.000000	0.08366	0.279000	0.23992	0.1303:0.0:0.6255:0.2442	3.743	0.08065	213	0.91726	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.08333	153.27	12	chr17	61456662	.	G	A	153.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.63;DP=126;ExcessHet=0;FS=5.021;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.22;ReadPosRankSum=-1.406;SOR=1.133	GT:AD:DP:GQ:PL	0/1:9,6:15:99:163,0,226	5	0	1	1
chr17	62736189	62736189	G	A	exonic	MARCHF10	.	nonsynonymous SNV	MARCHF10:NM_001100875:exon6:c.C1679T:p.T560I,MARCHF10:NM_152598:exon6:c.C1679T:p.T560I,MARCHF10:NM_001288779:exon7:c.C1793T:p.T598I,MARCHF10:NM_001288780:exon7:c.C1676T:p.T559I	.	430	1076	16	0	0	16	0.00738007	.	.	.	3220521	MARCHF10-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.020	0.000747285880691	0.0068	0.00379393	0.0067	0.0009	0.0066	0	0.0044	0.0091	0.0044	0.0055	0.0069857	1080	154602	rs147046907	0.0081	0.0081	0.0081	0.0081	0.0089	0.0080	0.0079	0.0088	0.0087	0.0009	0.0086	0.0108	0	0.0041	0.0088	0.0089	0.0075	0.0057	0.0073	0.0073	0.0073	0.0074	0.0140	0.0070	0.0068	0.0125	0.0119	0.0017	0.0143	0.0140	0.0130	0	0.0052	0.0068	0.0099	0.0104	0.0037	0.189	0.21224	T	0.138	0.38742	T	0.144	0.30426	B	0.014	0.22131	B	0.065125	0.02186	N	1.901870	1	0.08975	N	1.445	0.36358	L	2.63	0.12884	T	-1.82	0.44094	N	0.048	0.12341	-1.0214	0.23259	T	0.028	0.11882	T	10	0.0032739043	0.00056	T	7.47E-4	0.00529	T	0.020	0.03691	.	.	0.170165803431	0.16609	0.34173031340423193	0.34086	0.155758639587	0.17579	0.293748140335	0.09472	T	0.003796	0.03201	T	-0.646299	0.00076	T	-0.693178	0.06207	T	0.00331619772580236	0.00035	T	0.686231	0.29475	T	0.059711806	0.12168	0.09078379	0.21308	0.059711806	0.12167	0.09078379	0.21307	-3.926	0.22693	T	.	.	0.152	0.38711	B	.;.;.;.;.	.;.;.;.;.	1.608104	0.20553	14.80	0.45015877344334576	0.03503	0.08175	0.14137	N	AEFBI	0.076148	0.15311	N	-0.579418126679444	0.19570	1.025313	-0.597297329563985	0.19563	1.050175	0.0759936913170173	0.15713	0.559995	0.30671	0	0.547309	0.14657	0	0.527494	0.11647	0	0.530356	0.10902	0	.	.	5.37	3.32	0.37134	1.583000	0.36188	3.827000	0.39978	0.676000	0.76740	0.084000	0.22438	0.818000	0.27101	0.007000	0.07825	0.1827:0.0:0.8173:0.0	9.036	0.35451	589	0.68969	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.009567	0.000000	0.006793	0.014620	0.000000	0.017241	0.021341	0.007576	0.07143	246.49	34	chr17	62736189	.	G	A	246.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.366;DP=218;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.8;ReadPosRankSum=-0.848;SOR=1.002	GT:AD:DP:GQ:PL	0/1:17,11:28:99:257,0,447	6	0	1	0
chr17	63491327	63491327	G	A	exonic	ACE	.	nonsynonymous SNV	ACE:NM_001382702:exon7:c.G596A:p.R199Q,ACE:NM_001178057:exon8:c.G1136A:p.R379Q,ACE:NM_152830:exon8:c.G1136A:p.R379Q,ACE:NM_001382700:exon16:c.G2291A:p.R764Q,ACE:NM_001382701:exon17:c.G2006A:p.R669Q,ACE:NM_000789:exon19:c.G2858A:p.R953Q	Renal tubular dysgenesis, Autosomal recessive	0	1508	13	1	0	15	0.00494886	.	.	.	346715	Renal_tubular_dysgenesis|not_provided	Human_Phenotype_Ontology:HP:0008660,MONDO:MONDO:0017609,MedGen:C0266313,Orphanet:3033|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.418	.	0.0002	0.00239617	0.0013	0.0002	0.0004	0.0001	0	3.003e-05	0.0011	0.0087	0.0010867	168	154602	rs143507892	0.0006	0.0006	0.0004	0.0008	0.0085	0.0006	0.0006	0.0080	0.0078	2.987e-05	0.0002	0	2.519e-05	0	0.0019	7.824e-05	0.0007	0.0085	0.0003	0.0003	0.0002	0.0003	0.0064	0.0002	0.0002	0.0046	0.0040	2.406e-05	0	0.0003	0	0	0	0	7.351e-05	0	0.0064	0.005	0.68238	D	0.022	0.57587	D	1.0	0.90584	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.985	0.85602	M	0.84	0.47477	T	-3.15	0.72710	D	0.826	0.85132	-0.1497	0.78923	T	0.387	0.74217	T	10	0.013521582	0.00286	T	.	.	.	0.418	0.72780	.	.	0.937548390603	0.93689	0.6580919438539501	0.65746	0.512096811149	0.49265	0.567733824253	0.48358	T	0.110055	0.63867	T	-0.0939605	0.37422	T	0.0975237	0.76743	D	0.163396631722251	0.18119	T	0.947605	0.90829	D	0.90277034	0.91633	0.7163986	0.83260	0.8859031	0.90160	0.7194945	0.83441	-9.341	0.72249	D	0.6465100972114117	0.71799	0.218	0.48918	B	.;.;.;.;.	.;.;.;.;.	4.734429	0.76285	26.5	0.99358669262211419	0.60904	0.95110	0.63474	D	AEFDGBCI	0.957273	0.97636	D	0.776711513751489	0.84631	8.34185	0.710860647772039	0.83202	7.960638	0.999999999082028	0.74766	0.646311	0.45356	0	0.563428	0.19063	0	0.645312	0.48771	0	0.636168	0.56350	0	.	.	5.39	5.39	0.77615	8.125000	0.89463	11.820000	0.97208	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.078000	0.17132	0.0:0.0:1.0:0.0	19.150	0.93470	930	0.16408	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.015152	0.07143	376.45	34	chr17	63491327	.	G	A	376.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.33;DP=219;ExcessHet=0;FS=1.301;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.76;ReadPosRankSum=-1.334;SOR=0.474	GT:AD:DP:GQ:PL	0/1:20,15:35:99:387,0,499	6	0	1	0
chr17	67826264	67826264	-	GAC	exonic	BPTF	.	nonframeshift insertion	BPTF:NM_004459:exon1:c.540_541insGAC:p.D185_A186insD,BPTF:NM_182641:exon1:c.540_541insGAC:p.D185_A186insD	.	.	.	.	.	.	.	.	.	.	.	2022860	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	4.137e-05	0.0002	0.0002	0	0	1.507e-05	0	0	3.84e-05	1	26028	rs768839258	1.848e-05	1.847e-05	1.362e-05	2.339e-05	0.0004	1.266e-05	1.085e-05	6.324e-05	2.607e-05	2.989e-05	8.946e-05	0	0	0	0.0004	1.529e-05	1.658e-05	2.32e-05	7.887e-05	7.875e-05	0.0001	5.377e-05	0.0002	4.498e-05	3.513e-05	5.847e-05	4.243e-05	7.222e-05	0	0	0	0.0002	0	0	0.0001	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1416.45	33	chr17	67826264	.	A	AGAC	1416.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.665;DP=276;ExcessHet=0;FS=5.641;MLEAC=1;MLEAF=0.071;MQ=59.92;MQRankSum=-1.548;QD=16.86;ReadPosRankSum=-1.29;SOR=1.329	GT:AD:DP:GQ:PL	0/1:46,38:84:99:1427,0,1818	6	0	1	0
chr17	67911177	67911177	C	T	exonic	BPTF	.	nonsynonymous SNV	BPTF:NM_182641:exon11:c.C3293T:p.S1098F,BPTF:NM_004459:exon13:c.C3671T:p.S1224F	.	428	1088	6	0	0	6	0.00274977	.	.	.	704318	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.116	.	0.0073	0.0119808	0.0048	0.0218	0.0018	0.0110	0	7.581e-05	0.0033	0.0142	0.0045084	697	154602	rs114086141	0.0019	0.0019	0.0017	0.0022	0.0205	0.0019	0.0019	0.0192	0.0187	0.0205	0.0023	0	0.0134	0	0.0021	4.227e-05	0.0053	0.0132	0.0074	0.0074	0.0074	0.0074	0.0219	0.0070	0.0069	0.0207	0.0202	0.0219	0	0.0032	0	0.0137	0	0.0034	0.0001	0.0057	0.0155	0.001	0.78490	D	0.008	0.76473	D	0.995	0.67487	D	0.914	0.64984	D	.	.	.	.	0.959243	0.26193	N	1.59	0.40313	L	-2.23	0.87116	D	-3.01	0.62518	D	0.237	0.26717	-0.8563	0.51527	T	0.149	0.47575	T	9	0.0033612251	0.00058	T	.	.	.	0.116	0.32463	.	.	0.454925483252	0.45117	0.05283498364951307	0.05225	1.06368782234	0.76556	0.309189617634	0.11784	T	0.248298	0.61808	T	-0.318042	0.07059	T	-0.212702	0.53437	T	0.0194019121745128	0.00645	T	0.928457	0.73631	D	0.13499396	0.31345	0.20394574	0.44496	0.13196579	0.30743	0.20137969	0.44114	-6.104	0.47141	T	.	.	0.119	0.29088	B	.;.;.;.;.;.	.;.;.;.;.;.	3.557826	0.50049	22.9	0.98640586623677318	0.44042	0.63448	0.32092	D	AEFDBHCIJ	0.225541	0.34962	N	-0.267886597512727	0.30397	1.694447	-0.282701354797527	0.28667	1.600184	0.953810239677997	0.28095	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	6.05	5.09	0.68647	2.642000	0.46262	4.927000	0.46095	0.599000	0.40250	0.014000	0.18986	0.995000	0.32472	0.016000	0.10718	0.1362:0.7958:0.0:0.068	10.124	0.41810	840	0.37365	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.005544	0.010101	0.004076	0.002941	0.000000	0.000000	0.000000	0.015152	0.07143	465.63	36	chr17	67911177	.	C	T	465.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.414;DP=203;ExcessHet=0;FS=3.524;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=16.63;ReadPosRankSum=0.659;SOR=1.493	GT:AD:DP:GQ:PL	0/1:11,17:28:99:476,0,325	6	0	1	0
chr17	74369559	74369559	G	A	exonic	GPR142	.	nonsynonymous SNV	GPR142:NM_001331076:exon2:c.G19A:p.G7R,GPR142:NM_001331077:exon2:c.G19A:p.G7R,GPR142:NM_181790:exon2:c.G335A:p.R112Q	.	403	1105	13	1	0	15	0.00674157	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	.	0.0007	0.000599042	0.0012	0.0007	0.0110	0	0	0.0019	0	0.0003	0.0005886	91	154602	rs145323799	0.0009	0.0009	0.0008	0.0009	0.0170	0.0008	0.0008	0.0143	0.0133	0.0006	0.0029	0.0023	0	4.043e-05	0.0170	0.0007	0.0016	0.0007	0.0008	0.0008	0.0008	0.0009	0.0031	0.0007	0.0007	0.0024	0.0021	0.0002	0	0.0031	0.0009	0	0	0.0171	0.0007	0.0028	0.0008	0.224	0.18691	T	0.0	0.92824	D	0.01	0.15535	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	-0.33	0.68329	T	-0.25	0.11008	N	0.093	0.07262	-1.0490	0.14677	T	0.104	0.38144	T	9	0.0051439106	0.00112	T	.	.	.	0.033	0.08068	.	.	0.576774385015	0.57347	0.13291447171295942	0.13215	0.132070076647	0.14885	0.214999228716	0.01041	T	0.004042	0.03453	T	-0.626178	0.00101	T	-0.675288	0.07273	T	0.0195211494218683	0.00656	T	0.481052	0.14533	T	0.023863943	0.01163	0.031542506	0.01758	0.023863943	0.01163	0.031542506	0.01758	-3.376	0.14735	T	.	.	0.081	0.08224	B	.	.	0.701099	0.10700	7.393	0.99516629065824425	0.68979	0.00876	0.03464	N	AEFGBI	0.045987	0.07585	N	-1.11083181261541	0.06449	0.2969175	-1.13407542532562	0.07057	0.3418765	0.201582896513629	0.18130	0.615755	0.39536	0	0.607795	0.50457	0	0.618376	0.41669	0	0.562822	0.20929	0	.	.	3.58	-3.08	0.05022	-0.865000	0.04358	-1.484000	0.05335	-0.106000	0.15538	0.000000	0.06391	0.000000	0.08366	0.092000	0.17891	0.3907:0.0:0.4503:0.159	4.250	0.10142	788	0.46569	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.015432	0.015152	0.016949	0.026786	0.000000	0.017544	0.009259	0.003876	0.07143	554.49	33	chr17	74369559	.	G	A	554.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.237;DP=247;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.6;ReadPosRankSum=0.743;SOR=0.735	GT:AD:DP:GQ:PL	0/1:46,27:73:99:565,0,1052	6	0	1	0
chr17	74930870	74930870	C	G	exonic	OTOP2	.	nonsynonymous SNV	OTOP2:NM_178160:exon6:c.C1235G:p.A412G	.	426	1095	1	0	0	1	0.000456413	.	.	.	3374453	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.152	0.023663192196	.	.	9.892e-05	0	0	0	0	0.0002	0	0	7.76e-05	12	154602	rs751207230	4.446e-05	4.446e-05	3.811e-05	5.088e-05	5.396e-05	3.575e-05	3.257e-05	4.265e-05	3.837e-05	0	2.236e-05	3.826e-05	0	0	0	5.396e-05	4.967e-05	0	5.259e-05	5.254e-05	3.855e-05	6.729e-05	8.821e-05	2.558e-05	1.831e-05	3.762e-05	2.575e-05	2.415e-05	0	6.541e-05	0	0	0	0	8.821e-05	0	0	0.023	0.48186	D	0.015	0.61642	D	0.998	0.73220	D	0.939	0.67449	D	0.003350	0.35069	N	0.313296	0.663864	0.33077	D	2.485	0.72352	M	1.95	0.22474	T	-3.12	0.63782	D	0.549	0.57775	-0.8789	0.49848	T	0.108	0.39123	T	10	0.50320613	0.61668	D	0.023663	0.46630	T	0.152	0.39956	.	.	0.226586394389	0.22295	0.5361457981282575	0.53539	0.61337076957	0.55906	0.471367239952	0.34869	T	0.118094	0.43866	T	-0.271069	0.11638	T	-0.37884	0.35860	T	0.640190124511719	0.38045	D	0.832017	0.49964	T	0.15132125	0.34406	0.21674287	0.46313	0.15132125	0.34405	0.21674287	0.46312	-5.321	0.40150	T	.	.	0.145	0.32202	B	.;.	.;.	3.845118	0.55667	23.6	0.99662274196888945	0.78011	0.97639	0.76082	D	AEFDGBI	0.808786	0.73247	D	0.518297003680298	0.68171	5.180804	0.478068821839551	0.66538	4.965297	0.999998383274967	0.74766	0.516011	0.20929	0	0.59043	0.45803	0	0.577349	0.28860	0	0.542086	0.14980	0	.	.	5.47	5.47	0.80345	4.857000	0.62639	1.119000	0.24226	0.599000	0.40250	0.979000	0.35152	0.108000	0.22760	0.602000	0.31438	0.0:0.9245:0.0:0.0755	12.694	0.56358	923	0.18507	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1054.44	35	chr17	74930870	.	C	G	1054.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.721;DP=283;ExcessHet=0;FS=0.772;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.1;ReadPosRankSum=1.74;SOR=0.836	GT:AD:DP:GQ:PL	0/1:52,43:95:99:1065,0,1449	6	0	1	0
chr17	75564463	75564463	G	A	exonic	LLGL2	.	nonsynonymous SNV	LLGL2:NM_001015002:exon10:c.G992A:p.R331H,LLGL2:NM_001031803:exon10:c.G992A:p.R331H,LLGL2:NM_004524:exon10:c.G992A:p.R331H	.	419	1101	2	0	0	2	0.000907441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.513	0.0443561989416	.	.	3.329e-05	0.0002	0.0002	0	0	0	0	0	2.59e-05	4	154602	rs745709991	1.643e-05	1.71e-05	1.77e-05	1.513e-05	8.945e-05	1.111e-05	9.34e-06	2.985e-05	1.804e-05	2.987e-05	8.945e-05	0	2.519e-05	0	0	1.259e-05	0	4.637e-05	6.57e-05	6.567e-05	8.993e-05	4.034e-05	0.0001	3.516e-05	2.616e-05	4.738e-05	3.053e-05	0.0001	0	6.544e-05	0	0	0	0	5.88e-05	0	0	0.003	0.72154	D	0.01	0.69154	D	1.0	0.90584	D	0.993	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.815	0.81989	M	3.39	0.32958	T	-4.14	0.75456	D	0.848	0.86085	-0.6528	0.62592	T	0.219	0.58201	T	10	0.85011923	0.84188	D	0.044356	0.61447	D	0.513	0.79156	.	.	0.769647611133	0.76753	0.5755726003015361	0.57486	0.935818021224	0.72008	0.688752293587	0.65526	T	0.34447	0.71298	T	0.0852383	0.62648	D	0.121331	0.78323	D	0.916878342628479	0.57448	D	0.985701	0.95215	D	0.49093568	0.66559	0.30839118	0.56858	0.49093568	0.66560	0.30839118	0.56857	-8.413	0.63851	D	.	.	0.190	0.60522	B	.;.;.;.;.	.;.;.;.;.	5.734729	0.93297	33	0.98927716217663408	0.48676	0.97689	0.76430	D	AEFGBCI	0.951770	0.96663	D	0.825998328645645	0.87703	9.310581	0.769976104304895	0.87641	9.292545	0.999999999999971	0.74766	0.736574	0.97449	0	0.588066	0.40923	0	0.732669	0.93749	0	0.655142	0.61905	0	.	.	5.12	5.12	0.69459	9.940000	0.98890	11.777000	0.96009	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.914000	0.44937	0.0:0.0:1.0:0.0	18.912	0.92459	981	0.03995	.;.;Lethal giant larvae homologue 2;.;Lethal giant larvae homologue 2	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	723.45	34	chr17	75564463	.	G	A	723.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.718;DP=245;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.86;ReadPosRankSum=-0.065;SOR=0.601	GT:AD:DP:GQ:PL	0/1:28,33:61:99:734,0,575	6	0	1	0
chr17	75900995	75900995	G	A	exonic	MRPL38	.	nonsynonymous SNV	MRPL38:NM_032478:exon6:c.C697T:p.L233F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.203	0.0261304332244	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1455019063	3.423e-06	3.42e-06	1.362e-06	5.507e-06	2.241e-05	1e-06	7.3e-07	7.2e-07	2e-07	0	2.241e-05	0	0	0	0	2.699e-06	1.657e-05	0	6.572e-06	6.567e-06	1.285e-05	0	6.543e-05	0	0	.	.	0	0	6.543e-05	0	0	0	0	0	0	0	0.027	0.46513	D	0.042	0.50226	D	0.681	0.41422	P	0.403	0.44588	B	0.498066	0.11981	N	0.785622	0.995329	0.23318	N	3.005	0.85968	M	0.82	0.48142	T	-2.35	0.51968	N	0.408	0.44857	-0.9991	0.30171	T	0.154	0.48481	T	10	0.34732983	0.51669	T	0.02613	0.49060	D	0.203	0.48915	0.609	0.74182	0.134241683229	0.13084	0.7197692949613189	0.71919	0.375759849977	0.39034	0.363045930862	0.19828	T	0.175425	0.52500	T	-0.167433	0.25624	T	-0.478283	0.24629	T	0.214734822511673	0.21198	T	0.934407	0.75457	D	0.1637735	0.36541	0.11376527	0.27459	0.1637735	0.36541	0.11376527	0.27458	-9.853	0.73027	D	.	.	0.571	0.67673	P	.	.	1.483003	0.19090	14.08	0.98628968496724279	0.43879	0.13280	0.17766	N	AEFBI	0.326471	0.42773	N	-0.978875845040438	0.09056	0.427024	-1.24769576612042	0.05165	0.2454631	0.999999997793155	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.87	-10.8	0.00171	-1.356000	0.02716	-4.061000	0.02365	-0.776000	0.03386	0.000000	0.06391	0.000000	0.08366	0.918000	0.45347	0.0681:0.2626:0.4427:0.2266	7.028	0.24129	846	0.36215	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	505.44	34	chr17	75900995	.	G	A	505.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.49;DP=238;ExcessHet=0;FS=1.133;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.75;ReadPosRankSum=-2.035;SOR=0.99	GT:AD:DP:GQ:PL	0/1:26,21:47:99:516,0,543	6	0	1	0
chr17	76046168	76046168	G	A	exonic	SRP68	.	nonsynonymous SNV	SRP68:NM_001260503:exon4:c.C152T:p.T51M,SRP68:NM_001260502:exon10:c.C1055T:p.T352M,SRP68:NM_014230:exon11:c.C1169T:p.T390M	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.308	0.00570942979553	.	.	4.119e-05	0	0	0.0001	0	1.498e-05	0	0.0002	6.5e-06	1	154602	rs757875266	4.105e-05	4.104e-05	3.54e-05	4.676e-05	0.0007	3.245e-05	2.92e-05	0.0002	0.0001	0	2.236e-05	0	2.519e-05	0	0.0007	2.968e-05	3.312e-05	0.0002	2.63e-05	2.627e-05	2.57e-05	2.692e-05	0.0002	8.15e-06	5.14e-06	4.88e-06	1.83e-06	2.414e-05	0	0	0	0	0	0	2.94e-05	0	0.0002	0.037	0.43085	D	0.067	0.44302	T	0.915	0.50599	P	0.281	0.40336	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.14	0.59869	M	.	.	.	-0.52	0.16187	N	0.819	0.81459	-0.7933	0.55537	T	0.192	0.54418	T	9	0.48946342	0.60905	T	0.005709	0.14802	T	0.308	0.62947	0.355	0.35571	0.289847578895	0.28608	0.30126038291242674	0.30039	0.936948820389	0.72059	0.658188164234	0.61151	T	0.029284	0.21018	T	0.253124	0.78892	D	0.362487	0.90796	D	0.124535922705132	0.14867	T	0.868713	0.57175	D	0.1108141	0.26190	0.13834885	0.33043	0.1108141	0.26190	0.13834885	0.33042	-4.987	0.50155	T	.	.	0.094	0.15788	B	.;.;.	.;.;.	4.329353	0.66320	24.9	0.99608899944793539	0.74694	0.99406	0.95621	D	AEFDBIJ	0.860637	0.77854	D	0.44310447529844	0.63811	4.622403	0.4962150905504	0.67739	5.124493	0.999999999246272	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.96	5.96	0.96695	9.323000	0.95598	9.886000	0.82236	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.0:1.0:0.0	19.410	0.94658	677	0.60274	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	537.46	34	chr17	76046168	.	G	A	537.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.989;DP=231;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.14;ReadPosRankSum=-0.325;SOR=0.813	GT:AD:DP:GQ:PL	0/1:16,22:38:99:548,0,333	6	0	1	0
chr17	76137646	76137646	C	G	exonic	FOXJ1	.	nonsynonymous SNV	FOXJ1:NM_001454:exon3:c.G973C:p.G325R	.	435	1084	3	0	0	3	0.00138185	.	.	.	2199401	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.273	0.0788178927319	7.7e-05	.	0.0001	0	0	0	0	4.731e-05	0	0.0006	5.82e-05	9	154602	rs376918102	4.261e-05	4.309e-05	3.827e-05	4.7e-05	0.0004	3.392e-05	3.079e-05	0.0003	0.0002	0	0	0	0	0	0	2.434e-05	4.992e-05	0.0004	2.626e-05	2.624e-05	2.569e-05	2.686e-05	0.0004	8.14e-06	5.14e-06	7.285e-05	3.027e-05	0	0	6.533e-05	0	0	0	0	1.47e-05	0	0.0004	0.058	0.37750	T	0.102	0.38450	T	0.09	0.25173	B	0.029	0.21540	B	0.125341	0.18846	N	0.519976	0.996144	0.23102	N	1.39	0.34934	L	-3.3	0.93787	D	-0.84	0.22944	N	0.169	0.17966	-0.1257	0.79502	T	0.655	0.88012	D	10	0.082617104	0.13656	T	0.078818	0.73093	D	0.273	0.58883	.	.	0.76131204268	0.75914	0.3252239796785802	0.32435	0.460069184359	0.45564	0.574674487114	0.49336	T	0.164685	0.51023	T	-0.136163	0.30504	T	-0.120986	0.61722	T	0.0473268384746207	0.05023	T	0.778722	0.41238	T	0.03824455	0.05057	0.07321097	0.15885	0.03824455	0.05057	0.07321097	0.15884	-5.382	0.40746	T	.	.	0.249	0.48417	B	.	.	2.850535	0.37631	20.5	0.98444989736519328	0.41553	0.76026	0.37257	D	AEFDBCI	0.360611	0.45051	N	-0.238868064833851	0.31549	1.770221	-0.134078483141107	0.34026	1.952754	0.999837383567981	0.43792	0.766844	0.99359	0	0.59043	0.45803	0	0.851219	0.99655	0	0.63947	0.58350	0	.	.	5.23	3.11	0.34883	0.977000	0.29072	.	.	0.599000	0.40250	0.909000	0.31653	1.000000	0.68203	0.736000	0.35301	0.3153:0.3795:0.0:0.3052	3.555	0.07416	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	588.45	33	chr17	76137646	.	C	G	588.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.405;DP=233;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.79;ReadPosRankSum=-1.596;SOR=0.655	GT:AD:DP:GQ:PL	0/1:20,26:46:99:599,0,461	6	0	1	0
chr17	76540206	76540206	G	A	exonic	PRCD	.	nonsynonymous SNV	PRCD:NM_001077620:exon1:c.G65A:p.R22Q	Retinitis pigmentosa 36	.	.	.	.	.	.	.	.	.	YES	846247	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.052	0.246942352876	.	.	2.603e-05	0	0	0	0	4.664e-05	0	0	1.94e-05	3	154602	rs760704583	7.547e-06	1.094e-05	7.49e-06	7.604e-06	3.406e-05	3.82e-06	2.78e-06	2.84e-06	1.82e-06	3.406e-05	0	0	0	0	0	6.822e-06	3.901e-05	0	2.11e-05	2.066e-05	0	4.379e-05	7.477e-05	5.61e-06	2.56e-06	.	.	0	0	7.477e-05	0	0	0	0	1.523e-05	0.0005	0	.	.	.	0.0	0.92824	D	0.168	0.28654	B	0.02	0.19048	B	.	.	.	.	1	0.81001	D	.	.	.	-1.09	0.77206	T	.	.	.	0.151	0.23253	-1.0239	0.22443	T	0.071	0.29066	T	7	0.13151485	0.25030	T	0.246942	0.88949	D	.	.	0.118	0.02577	0.585473498874	0.58221	0.11204887571484407	0.11133	0.304373407854	0.32745	0.35651537776	0.18877	T	0.280088	0.65278	T	-0.102794	0.35962	T	-0.385433	0.35085	T	0.858042418956757	0.50874	D	0.689931	0.29934	T	0.31217733	0.53974	0.4819153	0.70001	0.31217733	0.53974	0.4819153	0.70001	-4.465	0.30428	T	0.14910820438268613	0.17411	0.121	0.25166	B	.;.	.;.	3.922092	0.57271	23.8	0.99924464272992786	0.98980	0.47681	0.28037	N	AEFGBI	0.211935	0.33767	N	-0.0838264547946866	0.38100	2.226455	0.0254500724438591	0.40901	2.448365	0.999976689622972	0.50053	0.59774	0.34471	0	0.59043	0.45803	0	0.596491	0.31596	0	0.63947	0.58350	0	.	.	5.0	2.89	0.32713	1.599000	0.36361	.	.	0.676000	0.76740	1.000000	0.71638	0.995000	0.32472	0.985000	0.61073	0.2342:0.0:0.7658:0.0	5.905	0.18235	952	0.10565	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	151.83	22	chr17	76540206	.	G	A	151.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.97;DP=172;ExcessHet=0;FS=2.307;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.49;ReadPosRankSum=-0.981;SOR=1.721	GT:AD:DP:GQ:PL	0/1:10,6:16:99:162,0,229	6	0	1	0
chr17	80475594	80475594	C	A	exonic	NPTX1	.	nonsynonymous SNV	NPTX1:NM_002522:exon2:c.G569T:p.G190V	.	402	1118	2	0	0	2	0.000893655	.	.	.	2207983	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.029	0.00643262550052	7.7e-05	0.000199681	8.553e-05	0.0010	0	0	0	0	0	0	7.12e-05	11	154602	rs143382901	2.397e-05	2.394e-05	2.453e-05	2.34e-05	0.0009	1.74e-05	1.54e-05	0.0006	0.0005	0.0009	4.477e-05	0	0	0	0	0	3.314e-05	2.322e-05	0.0002	0.0002	0.0002	0.0002	0.0007	0.0001	0.0001	0.0005	0.0004	0.0007	0	6.536e-05	0	0	0	0	0	0	0	0.207	0.19854	T	0.315	0.19421	T	0.376	0.34240	B	0.154	0.34351	B	0.121912	0.18976	N	0.567605	0.756365	0.29585	N	1.21	0.30464	L	2.99	0.09262	T	0.75	0.02007	N	0.256	0.28965	-1.0325	0.19650	T	0.017	0.06807	T	10	0.02109474	0.00498	T	0.006433	0.16927	T	0.029	0.06676	.	.	0.276065633971	0.27208	.	.	0.990736191917	0.74065	0.405245006084	0.25798	T	0.088268	0.38122	T	-0.541078	0.00330	T	-0.617474	0.11384	T	0.00571341468234776	0.00062	T	0.851815	0.53646	D	0.11495751	0.27133	0.07907813	0.17769	0.11495751	0.27132	0.07907813	0.17769	-4.778	0.34333	T	.	.	0.064	0.01668	B	.	.	1.799543	0.22873	15.80	0.84826980398861662	0.15521	0.15201	0.18794	N	AEFDGBHCI	0.199542	0.32633	N	-0.559587127952043	0.20183	1.062171	-0.556206551932872	0.20641	1.113006	0.99993134360302	0.46732	0.72623	0.87236	0	0.596491	0.49125	0	0.594344	0.31042	0	0.63947	0.58350	0	.	.	3.7	1.62	0.22817	-0.243000	0.08933	1.348000	0.25786	0.599000	0.40250	0.000000	0.06391	0.570000	0.25566	0.988000	0.63387	0.0:0.3908:0.4368:0.1723	4.41	0.10857	906	0.23090	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	239.44	33	chr17	80475594	.	C	A	239.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.506;DP=231;ExcessHet=0;FS=1.415;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.98;ReadPosRankSum=1.27;SOR=1.022	GT:AD:DP:GQ:PL	0/1:18,12:30:99:250,0,436	6	0	1	0
chr17	81245845	81245845	C	G	exonic	SLC38A10	.	nonsynonymous SNV	SLC38A10:NM_001037984:exon16:c.G3071C:p.R1024P	.	414	1105	3	0	0	3	0.00135563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	.	0.0069	0.00798722	0.0025	0.0307	0.0012	0	0	8.023e-05	0.0036	0	0.0024256	375	154602	rs114255505	0.0008	0.0008	0.0009	0.0007	0.0278	0.0008	0.0007	0.0263	0.0257	0.0278	0.0020	0	0	0	0.0014	2.159e-05	0.0017	0.0001	0.0082	0.0082	0.0086	0.0079	0.0282	0.0079	0.0077	0.0269	0.0263	0.0282	0	0.0042	0	0	0	0	7.35e-05	0.0047	0.0002	0.124	0.27426	T	0.279	0.21745	T	0.001	0.07471	B	0.001	0.04355	B	0.291567	0.03898	N	1.831950	1	0.08975	N	0.205	0.09354	N	3.13	0.08014	T	0.56	0.02680	N	0.038	0.01203	-0.9689	0.37427	T	0.005	0.01688	T	10	0.0022165775	0.00032	T	.	.	.	0.003	0.00094	.	.	0.0846915920261	0.08053	0.10141733414641194	0.10072	0.170216262749	0.19188	0.304085075855	0.11013	T	0.00178	0.01205	T	-0.777901	0.00011	T	-0.869227	0.00750	T	0.0012775389111218	0.00013	T	0.59464	0.22023	T	0.08741041	0.20353	0.073491946	0.15976	0.08741041	0.20352	0.073491946	0.15975	-2.356	0.04870	T	.	.	0.058	0.00647	B	.	.	-0.752066	0.01205	0.060	0.6046488532001616	0.06470	0.00911	0.03557	N	AEFDBCI	0.041337	0.06272	N	-1.66454101622687	0.00975	0.0422653	-1.68331464979056	0.01213	0.05461959	0.999166775988479	0.38622	0.67177	0.52595	0	0.643519	0.57511	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	3.58	-1.83	0.07410	-0.966000	0.03935	-0.681000	0.07886	-1.234000	0.01323	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.1741:0.1469:0.2288:0.4502	0.973	0.01331	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002518	0.000000	0.005435	0.002941	0.000000	0.000000	0.000000	0.000000	0.08333	620.27	36	chr17	81245845	.	C	G	620.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.69;DP=258;ExcessHet=0;FS=1.064;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.41;ReadPosRankSum=-1.515;SOR=0.874	GT:AD:DP:GQ:PL	0/1:26,24:50:99:630,0,605	5	0	1	1
chr17	82079493	82079493	C	T	exonic	FASN	.	nonsynonymous SNV	FASN:NM_004104:exon42:c.G7262A:p.R2421Q	.	.	.	.	.	.	.	.	.	.	.	1438557	Epileptic_encephalopathy	Human_Phenotype_Ontology:HP:0200134,MedGen:C0543888	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.066	0.0920646085564	7.7e-05	.	7.515e-05	0	0	0	0	3.058e-05	0	0.0004	5.82e-05	9	154602	rs140139973	8.491e-05	8.687e-05	8.585e-05	8.397e-05	0.0003	7.216e-05	6.803e-05	0.0002	0.0002	2.987e-05	0	3.827e-05	0	1.925e-05	0	8.184e-05	1.656e-05	0.0003	1.971e-05	1.97e-05	2.569e-05	1.345e-05	2.94e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	2.413e-05	0	0	0	0	0	0	2.94e-05	0	0	0.399	0.10517	T	0.486	0.12421	T	0.316	0.32901	B	0.087	0.29615	B	0.495713	0.05062	N	1.318270	1	0.08975	N	1.87	0.49600	L	1.76	0.25996	T	-0.14	0.09135	N	0.184	0.19995	-1.0314	0.20002	T	0.043	0.18493	T	10	0.08311483	0.13792	T	0.092065	0.75824	D	0.066	0.19193	.	.	0.464345556596	0.46058	0.4083306440798199	0.40749	.	.	0.217506974936	0.01171	T	0.273178	0.64561	T	-0.446672	0.01181	T	-0.557424	0.16620	T	0.0272110492532433	0.01574	T	0.835916	0.50694	T	0.089905836	0.21022	0.05997246	0.11346	0.089905836	0.21021	0.05997246	0.11346	-5.605	0.42838	T	.	.	0.086	0.10594	B	.;.	.;.	1.376176	0.17868	13.42	0.86605755380668414	0.16649	0.92307	0.55410	D	AEFDBHCI	0.240320	0.36213	N	-0.891374195052057	0.11046	0.5310316	-0.938531307393757	0.11190	0.5685602	0.563558126379298	0.21433	0.67177	0.52595	0	0.702456	0.74545	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.16	-1.15	0.09211	2.221000	0.42559	-0.164000	0.11293	-0.052000	0.16994	0.948000	0.32982	0.000000	0.08366	0.029000	0.12982	0.1848:0.5278:0.1568:0.1306	3.233	0.06354	.	.	Thioesterase;Thioesterase	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	520.53	38	chr17	82079493	.	C	T	520.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.375;DP=239;ExcessHet=0;FS=4.055;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.62;ReadPosRankSum=-0.02;SOR=0.963	GT:AD:DP:GQ:PL	0/1:27,22:49:99:531,0,668	6	0	1	0
chr17	82587098	82587098	A	G	exonic	FOXK2	.	nonsynonymous SNV	FOXK2:NM_004514:exon8:c.A1612G:p.T538A	.	433	1088	1	0	0	1	0.000459348	.	.	.	2709621	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.303	0.0721965297776	0.0002	.	2.499e-05	0	8.667e-05	0	0	3.047e-05	0	0	2.59e-05	4	154602	rs369941371	2.328e-05	2.326e-05	2.043e-05	2.615e-05	0.0003	1.676e-05	1.479e-05	6.092e-05	2.521e-05	0	4.472e-05	0	0	0	0.0003	2.428e-05	4.969e-05	0	1.314e-05	1.314e-05	1.285e-05	1.345e-05	6.549e-05	2.18e-06	8.2e-07	.	.	0	0	6.549e-05	0	0	0	0	1.47e-05	0	0	0.263	0.16412	T	0.371	0.16425	T	0.002	0.09854	B	0.002	0.06944	B	0.000741	0.42006	N	0.243565	0.999998	0.08975	N	0.945	0.23706	L	-3.22	0.93352	D	-2.02	0.46503	N	0.181	0.19593	-0.5749	0.65819	T	0.466	0.79361	T	10	0.113426626	0.21309	T	0.072197	0.71470	D	0.303	0.62400	.	.	0.786251420133	0.78427	0.26401477488779157	0.26314	0.0518974345886	0.05709	0.301903963089	0.10684	T	0.085611	0.37540	T	-0.0774148	0.40135	T	-0.152006	0.59065	T	0.0287242128457134	0.01795	T	0.665033	0.27384	T	0.03029634	0.02669	0.04013827	0.04269	0.03029634	0.02668	0.04013827	0.04269	-2.576	0.06323	T	.	.	0.059	0.00754	B	.	.	0.608479	0.09770	6.536	0.7512127537411466	0.10953	0.64209	0.32333	D	AEFBI	0.068566	0.13532	N	-0.952553570041689	0.09635	0.4568954	-0.88967266324143	0.12338	0.6340663	0.071237999910655	0.15559	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.18	0.396	0.15532	0.778000	0.26393	0.050000	0.13987	0.756000	0.94297	0.862000	0.30648	0.000000	0.08366	0.019000	0.11356	0.4632:0.1451:0.3917:0.0	6.856	0.23224	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	713.45	34	chr17	82587098	.	A	G	713.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-3.932;DP=281;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.56;ReadPosRankSum=1.14;SOR=0.551	GT:AD:DP:GQ:PL	0/1:18,31:49:99:724,0,510	6	0	1	0
chr17	82927286	82927286	G	A	exonic	TBCD	.	nonsynonymous SNV	TBCD:NM_005993:exon29:c.G2572A:p.D858N	Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	846657	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.590	0.310222775996	.	.	8.353e-06	0	0	0	0	0	0	6.114e-05	6.5e-06	1	154602	rs766636782	1.163e-05	1.163e-05	9.53e-06	1.375e-05	5.798e-05	7.09e-06	5.79e-06	2.194e-05	1.43e-05	0	0	0	0	0	0	9.893e-06	1.656e-05	5.798e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.004	0.74150	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.3	0.90472	M	-0.53	0.70833	T	-4.3	0.76496	D	0.982	0.99181	0.369	0.88622	D	0.591	0.85355	D	9	0.9356401	0.92895	D	0.310223	0.91162	D	0.590	0.83636	0.69	0.82748	0.786459034887	0.78448	0.6528296597675896	0.65218	0.98513362882	0.73873	0.573241591454	0.49135	T	0.399642	0.75743	T	-0.0904725	0.37999	T	-0.16508	0.57893	T	0.949906706809998	0.63217	D	0.959004	0.84537	D	0.5348146	0.69104	0.3843783	0.63380	0.5348146	0.69105	0.3843783	0.63380	-8.82	0.66531	D	0.7464512108424934	0.82855	0.427	0.61025	A	.;.	.;.	4.956417	0.81914	27.7	0.99901929353182239	0.97350	0.98046	0.79143	D	AEFDBI	0.854379	0.77140	D	0.631099185297632	0.75150	6.255475	0.47622432853169	0.66417	4.949503	0.999745012568639	0.42466	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.04	4.04	0.46262	8.334000	0.89939	11.581000	0.93342	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.391000	0.26581	0.0:0.0:1.0:0.0	13.750	0.62385	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	553.83	37	chr17	82927286	.	G	A	553.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.045;DP=214;ExcessHet=0;FS=1.157;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.59;ReadPosRankSum=1.45;SOR=0.502	GT:AD:DP:GQ:PL	0/1:19,25:44:99:564,0,433	6	0	1	0
chr18	619243	619243	A	T	exonic	CLUL1	.	nonsynonymous SNV	CLUL1:NM_001318522:exon3:c.A137T:p.D46V,CLUL1:NM_014410:exon3:c.A137T:p.D46V,CLUL1:NM_199167:exon3:c.A137T:p.D46V,CLUL1:NM_001289036:exon5:c.A293T:p.D98V,CLUL1:NM_001375492:exon5:c.A137T:p.D46V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.272	0.031679129465	.	0.000599042	0.0005	0	0	0	0	0	0	0.0034	0.0003881	60	154602	rs557572063	0.0002	0.0002	0.0001	0.0003	0.0036	0.0002	0.0002	0.0033	0.0031	2.989e-05	0	0	0	0	0.0002	0	0.0001	0.0036	0.0001	0.0001	5.139e-05	0.0002	0.0041	9.142e-05	7.698e-05	0.0027	0.0023	2.406e-05	0	0	0	0	0	0	0	0	0.0041	0.002	0.72154	D	0.003	0.92824	D	0.991	0.68779	D	0.93	0.66596	D	0.000587	0.43095	D	0.259547	0.999997	0.58761	D	2.39	0.68882	M	1.56	0.29602	T	-6.94	0.93440	D	0.471	0.50688	-0.9979	0.30507	T	0.129	0.43686	T	10	0.013462454	0.00285	T	0.031679	0.53701	D	0.272	0.58758	0.616	0.75000	0.171388866994	0.16791	0.43854153948542546	0.43771	0.540324238068	0.51227	0.28354126215	0.07990	T	0.062265	0.35868	T	-0.371999	0.03494	T	-0.308917	0.43776	T	0.356337818365987	0.27266	T	0.773923	0.42944	T	0.60212857	0.72805	0.659746	0.80067	0.60212857	0.72806	0.659746	0.80068	-3.478	0.16125	T	.	.	0.160	0.35352	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.393551	0.30738	18.53	0.98863543586175395	0.47511	0.76788	0.37689	D	AEFDGBI	0.180360	0.30766	N	0.150762432141645	0.48849	3.092081	0.010354154428289	0.40194	2.394972	0.999976170177673	0.50053	0.446893	0.09132	0	0.547309	0.14657	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.26	2.88	0.32617	1.918000	0.39636	1.695000	0.28095	0.756000	0.94297	1.000000	0.71638	0.352000	0.24477	0.551000	0.30197	0.7043:0.1455:0.1502:0.0	5.521	0.16222	976	0.04745	.;Clusterin, N-terminal;Clusterin, N-terminal;Clusterin, N-terminal;Clusterin, N-terminal;Clusterin, N-terminal;Clusterin, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	263.49	33	chr18	619243	.	A	T	263.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.748;DP=206;ExcessHet=0;FS=3.556;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.41;ReadPosRankSum=-1.278;SOR=0.223	GT:AD:DP:GQ:PL	0/1:16,12:28:99:274,0,432	6	0	1	0
chr18	7231368	7231368	A	G	exonic	LRRC30	.	nonsynonymous SNV	LRRC30:NM_001105581:exon1:c.A230G:p.N77S	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.204	0.0149861325679	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.052e-06	2.052e-06	2.722e-06	1.375e-06	2.698e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.48186	D	0.12	0.35970	T	0.999	0.77913	D	0.978	0.74104	D	0.000000	0.84330	D	0.000000	0.992631	0.41700	D	1.575	0.39704	L	3.07	0.08547	T	-1.98	0.45769	N	0.795	0.79118	-1.1252	0.02026	T	0.047	0.20235	T	10	0.74293566	0.75086	D	0.014986	0.35458	T	0.204	0.49076	0.395	0.42099	0.48748946032	0.48381	0.1284806806019804	0.12773	0.350990176469	0.36944	0.535311341286	0.43783	T	0.030688	0.21697	T	-0.210996	0.19240	T	-0.540858	0.18213	T	0.908436477184296	0.56302	D	0.913309	0.69109	D	0.23673062	0.46527	0.29507414	0.55539	0.23673062	0.46527	0.29507414	0.55538	-4.95	0.36292	T	.	.	0.442	0.61811	A	.	.	4.125993	0.61706	24.4	0.99873419484491988	0.95076	0.99771	0.99347	D	AEFDBI	0.884632	0.81447	D	0.667040484425876	0.77474	6.681899	0.703244489509769	0.82624	7.813573	0.999918313677291	0.45857	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.65	5.65	0.86881	8.627000	0.90743	9.326000	0.80089	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	16.186	0.81771	954	0.10045	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	972.83	39	chr18	7231368	.	A	G	972.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.528;DP=276;ExcessHet=0;FS=4.105;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.18;ReadPosRankSum=1.12;SOR=1.206	GT:AD:DP:GQ:PL	0/1:46,41:87:99:983,0,1185	6	0	1	0
chr18	9887397	9887397	C	0	exonic	TXNDC2	.	.	.	.	477	317	422	139	167	867	0.524738	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	41684.9	278	chr18	9887397	.	C	*	41684.9	.	AC=2;AF=0.143;AN=14;BaseQRankSum=3.25;DP=2779;ExcessHet=0.0921;FS=0.655;MLEAC=2;MLEAF=0.143;MQ=59.74;MQRankSum=-0.208;QD=19.82;ReadPosRankSum=0.247;SOR=0.633	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:131,79:210:99:0|1:9887391_GGAAGCCATCCAGCCCAAGGAGGGTGACATCCCCAAGTCCCCAGAA_G:2860,0,5127:9887391	5	0	2	0
chr18	14513679	14513679	T	G	exonic	POTEC	.	nonsynonymous SNV	POTEC:NM_001137671:exon10:c.A1516C:p.K506Q	.	1001	337	183	1	0	185	0.215367	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.000961216431828	.	.	.	.	.	.	.	.	.	.	8.41e-05	13	154602	rs28606506	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.37118	T	0.267	0.22561	T	0.455	0.36245	P	0.137	0.33328	B	.	.	.	.	1	0.08975	N	2.35	0.67516	M	1.38	0.34050	T	0.11	0.05706	N	0.36	0.40164	-1.0459	0.15563	T	0.060	0.25273	T	9	0.10279083	0.18859	T	9.61E-4	0.00980	T	0.021	0.04004	0.44	0.49484	0.191931220699	0.18833	0.008575884169956268	0.00821	.	.	0.661467790604	0.61620	T	0.009409	0.08568	T	-0.232587	0.16309	T	-0.571872	0.15279	T	0.115140116944907	0.13948	T	0.559044	0.19511	T	0.0817621	0.18801	0.04864013	0.07268	0.0817621	0.18801	0.04864013	0.07268	-3.826	0.21193	T	.	.	0.126	0.26545	B	.	.	1.424813	0.18423	13.73	0.59010782571540543	0.06124	0.01638	0.05273	N	AEFI	0.034532	0.04293	N	-0.924811265974744	0.10264	0.4896489	-1.10812489953313	0.07544	0.3673648	1.29605380073252E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.53	-0.976	0.09761	1.060000	0.30139	.	.	0.332000	0.19570	0.003000	0.16062	0.000000	0.08366	0.028000	0.12845	0.0:0.4792:0.0:0.5208	4.177	0.09818	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4286	1890.48	127	chr18	14513679	.	T	G	1890.48	.	AC=6;AF=0.429;AN=14;BaseQRankSum=2.8;DP=845;ExcessHet=8.2628;FS=14.603;MLEAC=6;MLEAF=0.429;MQ=51.15;MQRankSum=-7.498;QD=2.38;ReadPosRankSum=-2.668;SOR=1.982	GT:AD:DP:GQ:PL	0/1:91,18:109:99:241,0,2329	1	0	6	0
chr18	26917110	26917110	T	A	exonic	CHST9	.	nonsynonymous SNV	CHST9:NM_031422:exon6:c.A481T:p.S161C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.241	0.0371225976675	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.69154	D	0.771	0.43934	P	0.417	0.44992	B	0.000201	0.00519	N	3.927780	0.862682	0.81001	D	1.75	0.45442	L	-0.26	0.67187	T	.	.	.	0.2	0.22098	-0.8409	0.52587	T	0.314	0.68361	T	10	0.30123568	0.47667	T	0.037123	0.57424	D	.	.	0.557	0.67547	0.790743069121	0.78879	0.4215112316694793	0.42067	.	.	0.423253893852	0.28284	T	0.188739	0.54274	T	-0.0432799	0.45461	T	-0.299945	0.44730	T	0.920431852340698	0.57960	D	0.766723	0.39447	T	0.16476113	0.36704	0.18406029	0.41435	0.16476113	0.36703	0.18406029	0.41434	-5.647	0.43219	T	.	.	0.150	0.33273	B	.;.	.;.	4.047378	0.59964	24.2	0.99128885831508851	0.53195	0.89673	0.50289	D	AEFBHCI	0.616746	0.60319	D	0.324759241017436	0.57422	3.90945	0.42967816341224	0.63422	4.575605	0.999999997508812	0.74766	0.638212	0.43195	0	0.59043	0.45803	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	6.16	6.16	0.99302	3.191000	0.50682	5.092000	0.47362	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.0:1.0	16.806	0.85530	931	0.16308	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	943.53	35	chr18	26917110	.	T	A	943.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.04;DP=244;ExcessHet=0;FS=3.459;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.52;ReadPosRankSum=0.34;SOR=0.542	GT:AD:DP:GQ:PL	0/1:27,38:65:99:954,0,655	6	0	1	0
chr18	31531145	31531145	C	A	exonic	DSG2	.	nonsynonymous SNV	DSG2:NM_001943:exon9:c.C1173A:p.S391R	Arrhythmogenic right ventricular dysplasia 10, Autosomal dominant;Cardiomyopathy, dilated, 1BB	0	1521	1	0	0	1	0.000328623	.	.	.	490825	Arrhythmogenic_right_ventricular_dysplasia_10|Arrhythmogenic_right_ventricular_cardiomyopathy|not_provided|Cardiomyopathy|Cardiovascular_phenotype	MONDO:MONDO:0012434,MedGen:C1857777,OMIM:610193|MONDO:MONDO:0016587,MeSH:D019571,MedGen:C0349788,Orphanet:247|MedGen:C3661900|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN230736	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.125	0.0561756737894	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.736e-06	2.736e-06	1.361e-06	4.125e-06	2.987e-05	6.4e-07	4.3e-07	7.2e-07	2e-07	2.987e-05	0	0	0	0	0	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.49117	D	0.13	0.34716	T	0.664	0.41009	P	0.197	0.36707	B	0.191662	0.16830	N	0.601855	1	0.08975	N	2.495	0.72670	M	0.1	0.61326	T	-1.75	0.41428	N	0.38	0.42149	-1.0165	0.24852	T	0.141	0.46035	T	10	0.19300362	0.35051	T	0.056176	0.66507	D	0.125	0.34456	0.421	0.46365	0.664503584741	0.66168	0.35811215697833537	0.35725	0.197909817014	0.22159	0.328558385372	0.14716	T	0.204785	0.56365	T	-0.0989463	0.36600	T	-0.379906	0.35733	T	0.202061355113983	0.20529	T	0.559944	0.19565	T	0.13894515	0.32115	0.08156004	0.18546	0.13894515	0.32115	0.08156004	0.18545	-7.602	0.58325	D	0.2658681719189311	0.35840	0.209	0.43640	B	.	.	0.741918	0.11111	7.759	0.76712356255001657	0.11579	0.05027	0.10809	N	AEFBI	0.083367	0.16889	N	-0.960802592172277	0.09452	0.4473703	-1.03818997266714	0.08955	0.4429032	0.0895794808390717	0.16088	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.564101	0.26826	0	.	.	5.02	1.98	0.25351	0.402000	0.20690	-0.023000	0.12899	-0.231000	0.07715	0.000000	0.06391	0.000000	0.08366	0.037000	0.13953	0.1225:0.6571:0.0:0.2204	8.075	0.29871	702	0.57624	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	742.44	34	chr18	31531145	.	C	A	742.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.84;DP=231;ExcessHet=0;FS=1.084;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.28;ReadPosRankSum=1.12;SOR=0.935	GT:AD:DP:GQ:PL	0/1:21,31:52:99:753,0,411	6	0	1	0
chr18	36786927	36786927	G	T	exonic	TPGS2	.	nonsynonymous SNV	TPGS2:NM_001271951:exon7:c.C810A:p.S270R	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00217396634592	.	0.000199681	0.0013	0.0026	0	0	0	0.0011	0	0	5.82e-05	9	154602	rs191631601	0.0003	0.0002	0.0003	0.0003	0.0003	0.0003	0.0003	0.0003	0.0003	4.34e-05	0	0	0	0	0	0.0003	0.0004	0	0.0002	0.0002	0.0002	6.715e-05	0.0003	0.0001	8.713e-05	0.0002	0.0002	2.406e-05	0	6.533e-05	0	0	0	0	0.0003	0.0005	0	.	.	.	0.013	0.63109	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.71	0.51228	T	.	.	.	0.147	0.14905	.	.	.	.	.	.	.	0.007430166	0.00169	T	0.002174	0.04071	T	.	.	.	.	0.56731557318	0.56396	0.08005205616279544	0.07940	.	.	0.295961499214	0.09801	T	.	.	.	-0.610696	0.00125	T	-0.654614	0.08633	T	.	.	.	0.354465	0.08000	T	.	.	.	.	.	.	.	.	-4.086	0.25083	T	.	.	0.212	0.44029	B	.	.	-0.608500	0.01548	0.101	0.59304637484720191	0.06193	0.02298	0.06609	N	ALL	0.032734	0.03752	N	.	.	.	.	.	.	0.99999998576057	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.606735	0.37207	0	0.711	0.71501	0	.	.	1.98	-2.04	0.06937	-0.576000	0.05947	-1.180000	0.06099	-0.354000	0.05547	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.4883:0.0:0.5117:0.0	5.891	0.18159	887	0.27948	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1099.44	35	chr18	36786927	.	G	T	1099.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.023;DP=284;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.22;ReadPosRankSum=0.17;SOR=0.783	GT:AD:DP:GQ:PL	0/1:45,45:90:99:1110,0,1096	6	0	1	0
chr18	49902703	49902703	C	T	exonic	MYO5B	.	nonsynonymous SNV	MYO5B:NM_001080467:exon21:c.G2702A:p.R901Q	Microvillus inclusion disease, Autosomal recessive	0	1519	3	0	0	3	0.000986518	.	.	.	879326	Inborn_genetic_diseases|MYO5B-related_disorder|not_provided|Congenital_microvillous_atrophy	MeSH:D030342,MedGen:C0950123|.|MedGen:C3661900|MONDO:MONDO:0009635,MedGen:C0341306,OMIM:251850,Orphanet:2290	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.075	0.0181130439631	0.0002	0.00139776	0.0009	0	0.0002	0	0	0.0001	0.0011	0.0061	0.0008085	125	154602	rs199782770	0.0005	0.0005	0.0003	0.0007	0.0056	0.0004	0.0004	0.0052	0.0050	0	0	0	2.519e-05	9.742e-05	0.0005	0.0002	0.0004	0.0056	0.0002	0.0002	0.0001	0.0003	0.0041	0.0001	0.0001	0.0027	0.0023	4.81e-05	0	0	0	0	9.411e-05	0	8.821e-05	0	0.0041	0.152	0.24468	T	0.1	0.38742	T	0.051	0.22415	B	0.061	0.26820	B	0.091391	0.20328	N	0.483097	0.873627	0.35611	D	1.78	0.46185	L	1.45	0.32482	T	-2.15	0.48687	N	0.084	0.06059	-1.0400	0.17313	T	0.078	0.31012	T	10	0.00918448	0.00207	T	0.018113	0.40062	T	0.075	0.21907	.	.	0.252162846088	0.24830	0.15015893288584448	0.14937	0.176405578011	0.19857	0.228121072054	0.01831	T	0.096501	0.39838	T	-0.586602	0.00176	T	-0.613747	0.11682	T	0.690129339694977	0.40254	D	0.672833	0.32195	T	0.030323487	0.02677	0.09859294	0.23511	0.03871455	0.05211	0.09442644	0.22350	-5.012	0.36970	T	0.1967918698673201	0.26005	0.069	0.02960	B	.;.	.;.	1.155953	0.15446	11.85	0.95596854700337464	0.27326	0.11172	0.16456	N	AEFDBI	0.129138	0.24719	N	-1.29229384194057	0.03767	0.1688757	-1.40309239081237	0.03221	0.1498007	0.25322388405615	0.18702	0.713056	0.82018	0	0.627178	0.54094	0	0.608524	0.38960	0	0.564101	0.26826	0	.	.	5.63	-6.62	0.01646	0.021000	0.13381	-1.276000	0.05839	-0.834000	0.02848	0.002000	0.15269	0.000000	0.08366	0.034000	0.13613	0.0:0.8264:0.0:0.1736	19.987	0.97354	926	0.17793	IQ motif, EF-hand binding site|IQ motif, EF-hand binding site|IQ motif, EF-hand binding site;IQ motif, EF-hand binding site|IQ motif, EF-hand binding site|IQ motif, EF-hand binding site	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.07143	2135.44	40	chr18	49902703	.	C	T	2135.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.396;DP=372;ExcessHet=0;FS=4.597;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.02;ReadPosRankSum=1.51;SOR=0.952	GT:AD:DP:GQ:PL	0/1:74,90:164:99:2146,0,1657	6	0	1	0
chr18	74631312	74631312	A	T	exonic	ZNF407	.	nonsynonymous SNV	ZNF407:NM_001146189:exon1:c.A293T:p.E98V,ZNF407:NM_001146190:exon1:c.A293T:p.E98V,ZNF407:NM_001384475:exon2:c.A293T:p.E98V,ZNF407:NM_017757:exon2:c.A293T:p.E98V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	0.00372713180775	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	0.37326	T	0.013	0.70582	D	0.004	0.12183	B	0.005	0.12133	B	0.008157	0.01195	U	46.647700	1	0.08975	N	1.32	0.33002	L	3.19	0.11189	T	-1.22	0.31778	N	0.118	0.11483	-0.9759	0.35926	T	0.022	0.09513	T	10	0.058657706	0.06931	T	0.003727	0.08651	T	0.050	0.13987	0.15	0.05339	0.043077524339	0.03247	0.19793107834112908	0.19710	0.099632476117	0.11245	0.21975338459	0.01296	T	0.035523	0.23750	T	-0.338286	0.05507	T	-0.723701	0.04619	T	0.0888149174030515	0.11075	T	0.39866	0.10107	T	0.083590336	0.19311	0.042102072	0.04939	0.083590336	0.19310	0.042102072	0.04938	-3.644	0.18495	T	.	.	0.121	0.29615	B	.;.;.;.	.;.;.;.	1.186697	0.15778	12.09	0.94716853837311943	0.25385	0.15008	0.18698	N	AEFGBI	0.063483	0.12270	N	-1.09679062746786	0.06702	0.3092664	-1.12282883709582	0.07265	0.3527471	0.99985595567785	0.44174	0.562547	0.31514	0	0.653731	0.59785	0	0.602189	0.34648	0	0.463824	0.07026	1	.	.	4.88	0.461	0.15901	1.013000	0.29540	0.093000	0.14542	0.691000	0.84096	0.001000	0.13787	0.000000	0.08366	0.004000	0.06068	0.4661:0.2985:0.0:0.2354	4.703	0.12216	730	0.54327	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1695.44	164	chr18	74631312	.	A	T	1695.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-3.584;DP=986;ExcessHet=0;FS=2.234;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.14;ReadPosRankSum=-0.127;SOR=0.5	GT:AD:DP:GQ:PL	0/1:63,66:129:99:1706,0,1798	6	0	1	0
chr19	1051294	1051294	G	C	exonic	ABCA7	.	nonsynonymous SNV	ABCA7:NM_019112:exon20:c.G2824C:p.G942R	.	.	.	.	.	.	.	.	1.0000	0.998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.818	.	0.0002	0.000199681	5.301e-05	0	0	0	0	9.413e-05	0	0	5.82e-05	9	154602	rs200140277	2.983e-05	3.01e-05	1.927e-05	4.057e-05	0.0012	2.248e-05	1.998e-05	0.0005	0.0003	0	2.283e-05	0	0	0	0.0012	2.632e-05	5.041e-05	4.8e-05	5.909e-05	5.905e-05	2.57e-05	9.398e-05	0.0001	3.075e-05	2.208e-05	3.762e-05	2.575e-05	0	0	0.0001	0	0	0	0.0034	8.819e-05	0	0	0.0	0.91255	D	0.01	0.65728	D	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	1	0.81001	D	2.83	0.82355	M	-2.3	0.87671	D	-7.27	0.94404	D	0.668	0.90476	0.728	0.93518	D	0.779	0.92478	D	9	0.87312	0.86588	D	0.111919	0.78987	D	0.818	0.94162	.	.	0.937523783213	0.93687	0.7925235842047667	0.79205	0.576378428007	0.53594	0.565898895264	0.48098	T	0.921906	0.98609	D	0.136803	0.68018	D	0.153702	0.80417	D	0.919560790061951	0.57833	D	0.947905	0.79907	D	0.78933316	0.83232	0.7472851	0.85063	0.78933316	0.83233	0.7472851	0.85064	-7.746	0.61206	D	.	.	0.564	0.67377	A	.;.;.	.;.;.	6.308352	0.94988	34	0.99922847895844746	0.98852	0.97184	0.73184	D	AEFBHCI	0.908661	0.86425	D	0.591121751444824	0.72620	5.834488	0.479400827389731	0.66627	4.976676	0.999999999999746	0.74766	0.634777	0.41761	0	0.643519	0.57511	0	0.723109	0.80598	0	0.604944	0.38103	0	.	.	4.67	4.67	0.58089	7.351000	0.78646	9.339000	0.80200	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.636000	0.32315	0.0:0.0:1.0:0.0	15.050	0.71519	988	0.01987	ABC transporter-like|ABC transporter, conserved site|ABC transporter-like|AAA+ ATPase domain;ABC transporter-like|ABC transporter, conserved site|ABC transporter-like|AAA+ ATPase domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.000505	0.000000	0.001366	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	82.83	40	chr19	1051294	.	G	C	82.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.876;DP=217;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.28;ReadPosRankSum=0.816;SOR=0.693	GT:AD:DP:GQ:PL	0/1:6,4:10:93:93,0,182	6	0	1	0
chr19	1506660	1506660	G	T	exonic	ADAMTSL5	.	nonsynonymous SNV	ADAMTSL5:NM_213604:exon11:c.C1044A:p.D348E,ADAMTSL5:NM_001367197:exon12:c.C1074A:p.D358E	.	.	.	.	.	.	.	.	0	0.008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.00570913502868	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1453350300	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.711	0.04032	T	0.716	0.05416	T	.	.	.	.	.	.	0.057412	0.22483	N	0.482493	0.656739	0.81001	D	.	.	.	1.66	0.27486	T	0.29	0.04161	N	0.129	0.12341	-0.9757	0.35970	T	0.032	0.13679	T	10	0.046480685	0.03845	T	0.005709	0.14802	T	0.036	0.09122	.	.	0.101711395817	0.09552	0.11417039997115795	0.11345	0.0953326903171	0.10761	0.551795899868	0.46111	T	0.005412	0.04862	T	-0.294039	0.09234	T	-0.660143	0.08256	T	0.0359386958135618	0.02971	T	0.424058	0.11326	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	0.13969	B	.	.	1.338894	0.17450	13.17	0.36302989837599481	0.02327	0.07777	0.13775	N	AEFBI	0.192311	0.31948	N	-1.0439438747085	0.07707	0.3589443	-1.00646437717401	0.09643	0.4809173	0.991017370616871	0.32344	0.580535	0.33130	0	0.59043	0.45803	0	0.576033	0.28219	0	0.542086	0.14980	0	.	.	3.99	-1.52	0.08181	-0.030000	0.12257	-0.100000	0.11953	0.590000	0.31872	0.268000	0.25027	0.092000	0.22550	0.153000	0.20410	0.1115:0.5572:0.3313:0.0	7.286	0.25514	976	0.04745	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	482.27	38	chr19	1506660	.	G	T	482.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.787;DP=248;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.18;ReadPosRankSum=-1.232;SOR=0.83	GT:AD:DP:GQ:PL	0/1:15,19:34:99:492,0,344	5	0	1	1
chr19	1796098	1796098	G	A	exonic	ATP8B3	.	nonsynonymous SNV	ATP8B3:NM_001178002:exon17:c.C1780T:p.R594C,ATP8B3:NM_138813:exon17:c.C1921T:p.R641C	.	.	.	.	.	.	.	.	.	.	.	2400520	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.674	0.0446197703885	8.1e-05	0.000199681	5.034e-05	0	8.657e-05	0	0	7.643e-05	0	0	5.17e-05	8	154602	rs145805623	6.983e-05	6.977e-05	6.403e-05	7.57e-05	0.0001	5.851e-05	5.461e-05	6.323e-05	5.825e-05	0.0001	4.473e-05	0	0	1.907e-05	0	7.645e-05	9.941e-05	3.478e-05	6.566e-05	6.561e-05	6.425e-05	6.714e-05	0.0001	3.514e-05	2.615e-05	4.765e-05	3.339e-05	4.812e-05	0	6.539e-05	0	0	0	0	0.0001	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999801	0.49283	D	4.225	0.97935	H	-0.83	0.74159	T	-7.59	0.95305	D	0.788	0.80473	0.762	0.93937	D	0.737	0.91001	D	10	0.91556114	0.90917	D	0.04462	0.61577	D	0.674	0.87965	.	.	0.851590140192	0.85016	0.7763669796703451	0.77586	0.511875505919	0.49248	0.670710325241	0.62940	T	0.863878	0.97002	D	0.137025	0.68040	D	0.195719	0.82891	D	0.998237490653992	0.93588	D	0.969703	0.89126	D	0.93929636	0.95176	0.8227185	0.89713	0.93929636	0.95176	0.8227185	0.89714	-8.097	0.62492	D	.	.	0.443	0.69431	A	.;.	.;.	4.585631	0.72484	25.8	0.99906400515085692	0.97726	0.54020	0.29513	D	ALL	0.573436	0.57662	D	0.577079685378828	0.71746	5.697935	0.346838215771355	0.58317	4.00158	0.999999999996814	0.74766	0.422189	0.06491	0	0.600433	0.49495	0	0.607795	0.38427	0	0.636	0.56748	0	.	.	4.8	3.75	0.42236	4.204000	0.58258	5.681000	0.49295	0.586000	0.30580	1.000000	0.71638	1.000000	0.68203	0.165000	0.20815	0.0:0.0:0.8455:0.1545	13.799	0.62678	964	0.07719	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	483.44	52	chr19	1796098	.	G	A	483.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.09;DP=297;ExcessHet=0;FS=3.533;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.55;ReadPosRankSum=0.686;SOR=0.526	GT:AD:DP:GQ:PL	0/1:41,23:64:99:494,0,985	6	0	1	0
chr19	7019249	7019249	C	T	exonic	MBD3L2B	.	nonsynonymous SNV	MBD3L2B:NM_001364674:exon2:c.G527A:p.R176Q	.	445	1070	6	1	0	8	0.00372439	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	.	.	0.000599042	0.0039	0	0	0	0	0.0009	0.0144	0.0076	2.59e-05	4	154602	rs543973148	0.0010	0.0009	0.0007	0.0013	0.0064	0.0010	0.0009	0.0059	0.0057	0.0001	0.0004	0.0013	0.0002	0	0.0013	0.0003	0.0011	0.0064	0.0005	0.0005	0.0004	0.0006	0.0057	0.0004	0.0004	0.0041	0.0035	0.0002	0	0.0003	0.0032	0.0006	0	0	0.0003	0.0005	0.0057	.	.	.	.	.	.	.	.	.	.	.	.	0.421155	0.04648	N	1.544800	1	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	-0.9505	0.40885	T	0.092	0.35119	T	6	0.0058014095	0.00129	T	.	.	.	.	.	.	.	.	.	0.45958468543087627	0.45876	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.607939	0.22935	T	0.047579296	0.08154	0.0870694	0.20213	0.047579296	0.08154	0.0870694	0.20213	-3.949	0.23038	T	.	.	0.097	0.15966	B	.;.	.;.	0.948669	0.13246	9.748	0.83239536717351248	0.14617	0.00261	0.01428	N	AEFBI	.	.	.	-1.01329020534341	0.08327	0.3900687	-1.24435682342607	0.05215	0.2479567	6.87900898998808E-6	0.01202	0.074636	0.01641	0	0.084543	0.02171	0	0.063197	0.01477	0	0.057018	0.00518	0	0.044006	0.02936	2.25	-3.46	0.04465	0.075000	0.14547	-4.934000	0.01920	-0.394000	0.05329	0.048000	0.21332	0.000000	0.08366	0.013000	0.09966	0.0:0.2817:0.0:0.7183	7.344	0.25827	964	0.07719	Methyl-CpG binding protein 2/3, C-terminal domain;Methyl-CpG binding protein 2/3, C-terminal domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	67.64	10	chr19	7019249	.	C	T	67.64	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.15;DP=77;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=55.68;MQRankSum=-0.319;QD=16.91;ReadPosRankSum=0.319;SOR=0.916	GT:AD:DP:GQ:PL	0/1:1,3:4:30:78,0,30	6	0	1	0
chr19	8888076	8888076	G	A	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon58:c.C40831T:p.P13611S	.	418	1044	60	0	0	60	0.027933	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.00233003514531	.	.	3.616e-05	0	0.0003	0	0	3.289e-05	0	0	1.29e-05	2	154602	rs746956602	7.602e-06	9.577e-06	5.489e-06	9.747e-06	4.683e-05	4.08e-06	2.98e-06	7.76e-06	2.9e-06	0	4.683e-05	0	0	0	0	8.147e-06	0	0	1.999e-05	6.604e-05	1.302e-05	2.729e-05	4.444e-05	5.31e-06	2.47e-06	1.18e-05	6.27e-06	0	0	0	0	0	0	0	4.444e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.69	0.01694	T	0.77	0.01949	N	0.055	0.02658	-1.0125	0.26133	T	0.008	0.02720	T	7	0.042926937	0.03089	T	0.00233	0.04507	T	0.062	0.17934	.	.	0.0551355673512	0.04727	0.1259688714579419	0.12522	.	.	0.296296924353	0.09851	T	.	.	.	-0.398369	0.02373	T	-0.810006	0.01665	T	0.015891833190803	0.00374	T	0.249275	0.03729	T	.	.	.	.	.	.	.	.	-1.842	0.02637	T	.	.	0.054	0.00321	B	.	.	0.192461	0.05785	2.226	0.4151298757620755	0.03000	0.00011	0.00159	N	AEFBI	0.010308	0.00072	N	-1.14269125215029	0.05901	0.2702541	-1.32095895774873	0.04160	0.1956212	9.77839227391231E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.949	0.949	0.18691	-0.098000	0.10993	.	.	-0.176000	0.10722	0.001000	0.13787	0.001000	0.17328	0.004000	0.06068	0.7048:0.0:0.2952:0.0	3.025	0.05719	952	0.10565	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	60.16	62	chr19	8888076	.	G	A	60.16	.	AC=2;AF=0.25;AN=8;BaseQRankSum=2.76;DP=402;ExcessHet=0.4139;FS=4.063;MLEAC=2;MLEAF=0.25;MQ=59.56;MQRankSum=-5.61;QD=0.54;ReadPosRankSum=0;SOR=1.111	GT:AD:DP:GQ:PL	0/1:34,4:38:66:66,0,1416	2	0	2	3
chr19	8888087	8888087	A	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon58:c.T40820C:p.I13607T	.	417	1041	64	0	0	64	0.0298229	0.0001	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	.	8.4e-05	.	1.843e-05	0.0002	0	0	0	0	0	0	6.5e-06	1	154602	rs375722672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.62	0.01834	T	1.51	0.00728	N	0.064	0.03613	-1.0221	0.23031	T	0.007	0.02244	T	7	0.046363264	0.03818	T	0.003776	0.08775	T	0.053	0.14996	.	.	0.0806252709748	0.07271	0.08113719990746966	0.08048	.	.	0.292725682259	0.09321	T	.	.	.	-0.410319	0.01978	T	-0.827171	0.01313	T	0.0205199335667818	0.00752	T	0.121488	0.00940	T	.	.	.	.	.	.	.	.	0.215	0.00281	T	.	.	0.092	0.13503	B	.	.	0.530896	0.08997	5.778	0.92029181334311316	0.21368	0.00015	0.00188	N	AEFBI	0.020964	0.00883	N	-0.812734170393172	0.12984	0.636566	-1.13990611673498	0.06950	0.3363392	1.26604863044529E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.949	-0.566	0.11178	-0.613000	0.05705	.	.	-0.251000	0.07141	0.002000	0.15269	0.000000	0.08366	0.069000	0.16583	0.5985:0.0:0.4015:0.0	4.301	0.10367	952	0.10565	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	103.78	58	chr19	8888087	.	A	G	103.78	.	AC=2;AF=0.25;AN=8;BaseQRankSum=3.6;DP=385;ExcessHet=0.4139;FS=2.471;MLEAC=3;MLEAF=0.375;MQ=59.6;MQRankSum=-4.855;QD=1.07;ReadPosRankSum=-0.055;SOR=1.171	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:29,4:33:81:0|1:8888087_A_G:81,0,1206:8888087	2	0	2	3
chr19	8900017	8900017	C	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon38:c.G38968C:p.D12990H	.	419	985	117	1	0	119	0.0569651	.	.	.	3206446	MUC16-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.059	0.000862686160426	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796074138	0	8.209e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	5.687e-05	0.0074	4.13e-05	7.351e-05	7.994e-05	2.742e-05	2.063e-05	2.119e-05	1.087e-05	7.994e-05	0	0	0	0	0.0003	0	3.068e-05	0	0	0.039	0.42487	D	0.066	0.44501	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.62	0.01834	T	0.49	0.02993	N	0.092	0.07125	-0.9370	0.43088	T	0.005	0.01506	T	8	0.0807575	0.13143	T	8.63E-4	0.00755	T	0.059	0.16972	0.123	0.02942	0.0401082797425	0.02173	0.1591635644427814	0.15837	.	.	0.225260436535	0.01636	T	.	.	.	-0.333606	0.05843	T	-0.716979	0.04943	T	0.120735882775226	0.14502	T	0.155884	0.01367	T	.	.	.	.	.	.	.	.	-5.876	0.45230	T	.	.	0.121	0.25199	B	.	.	-0.654509	0.01430	0.085	0.20142462625377641	0.00711	0.00266	0.01451	N	AEFBI	0.033829	0.04085	N	-1.20853826975404	0.04874	0.2209404	-1.39093098480509	0.03348	0.1559778	2.77626904626202E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.16	-2.32	0.06360	-4.258000	0.00301	.	.	-2.147000	0.00375	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3314:0.4146:0.254:0.0	2.997	0.05636	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.3333	1284.24	171	chr19	8900017	.	C	G	1284.24	.	AC=4;AF=0.333;AN=12;BaseQRankSum=0.145;DP=1182;ExcessHet=2.5225;FS=0.89;MLEAC=4;MLEAF=0.333;MQ=58.94;MQRankSum=-11.81;QD=1.59;ReadPosRankSum=1.3;SOR=0.856	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:99,11:110:99:0|1:8900009_C_T:164,0,4124:8900009	2	0	4	1
chr19	8908637	8908637	C	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon23:c.G37574C:p.G12525A	.	425	921	175	1	0	177	0.0876672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.00100971464853	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796118737	0	1.984e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.704e-06	0.0012	0	1.379e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.069	0.35537	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.5	0.02032	T	-1.0	0.26422	N	0.149	0.15187	-1.0489	0.14705	T	0.019	0.07893	T	8	0.14229593	0.27028	T	0.00101	0.01096	T	0.092	0.26621	0.068	0.00352	0.0920862733494	0.08535	0.09297556608109382	0.09229	.	.	0.207300364971	0.00702	T	.	.	.	-0.324618	0.06526	T	-0.704068	0.05606	T	0.128357648849487	0.15229	T	0.250075	0.03765	T	.	.	.	.	.	.	.	.	-9.338	0.69846	D	.	.	0.128	0.27222	B	.	.	0.716944	0.10859	7.536	0.51191884600897364	0.04518	0.02560	0.07095	N	AEFBI	0.024210	0.01462	N	-0.258816728321443	0.30752	1.717725	-0.553394696242798	0.20716	1.117387	2.41537016268443E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	1.42	0.21524	-0.166000	0.09943	.	.	0.321000	0.19380	0.000000	0.06391	0.000000	0.08366	0.016000	0.10718	0.0:1.0:0.0:0.0	6.239	0.19989	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	770.05	105	chr19	8908637	.	C	G	770.05	.	AC=3;AF=0.25;AN=12;BaseQRankSum=1.11;DP=887;ExcessHet=1.1394;FS=9.879;MLEAC=3;MLEAF=0.25;MQ=58.57;MQRankSum=-9.237;QD=1.74;ReadPosRankSum=-0.167;SOR=1.813	GT:AD:DP:GQ:PL	0/1:95,15:110:99:344,0,3924	3	0	3	1
chr19	8908644	8908644	C	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon23:c.G37567C:p.D12523H	.	422	906	191	3	0	197	0.0980587	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.00120507919294	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796881038	6.844e-07	2.805e-05	0	1.376e-06	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	6.682e-06	0.0013	0	1.372e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.555	0.06482	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.53	0.01980	T	-0.67	0.19297	N	0.127	0.12055	-0.9652	0.38171	T	0.005	0.01833	T	8	0.059954166	0.07290	T	0.001205	0.01558	T	0.015	0.02232	.	.	0.0401082797425	0.02173	0.17377359918076668	0.17297	.	.	0.218874275684	0.01246	T	.	.	.	-0.367293	0.03734	T	-0.765368	0.02923	T	0.0819785980810491	0.10239	T	0.169583	0.01587	T	.	.	.	.	.	.	.	.	-8.635	0.65320	D	.	.	0.155	0.34383	B	.	.	-0.155485	0.03325	0.581	0.2311562001233356	0.00962	0.00236	0.01316	N	AEFBI	0.021935	0.01036	N	-1.22951270346983	0.04577	0.2068566	-1.43744946049098	0.02886	0.1335886	3.83668398290725E-5	0.03775	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	-2.84	0.05408	-3.238000	0.00603	.	.	0.321000	0.19380	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.4784:0.3304:0.0:0.1912	2.526	0.04405	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	698.05	105	chr19	8908644	.	C	G	698.05	.	AC=3;AF=0.25;AN=12;BaseQRankSum=0.997;DP=901;ExcessHet=1.1394;FS=12.178;MLEAC=3;MLEAF=0.25;MQ=58.31;MQRankSum=-9.345;QD=1.61;ReadPosRankSum=0.298;SOR=1.909	GT:AD:DP:GQ:PL	0/1:94,15:109:99:347,0,3882	3	0	3	1
chr19	8913808	8913808	T	C	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon17:c.A37049G:p.Q12350R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.00242608576165	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs759620819	4.789e-06	5.472e-06	4.084e-06	5.502e-06	2.236e-05	1.99e-06	1.28e-06	1.94e-06	1.28e-06	0	2.236e-05	0	0	0	0	5.397e-06	0	0	0	1.314e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.132	0.26519	T	0.057	0.46406	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.58	0.01901	T	0.33	0.03889	N	0.086	0.06322	-0.9020	0.47782	T	0.004	0.01226	T	8	0.039474815	0.02440	T	0.002426	0.04757	T	0.029	0.06676	0.199	0.11247	0.0138822411134	0.00435	0.12891028179309774	0.12816	.	.	0.163704261184	0.00015	T	.	.	.	-0.461877	0.00957	T	-0.818366	0.01486	T	0.101391582637809	0.12509	T	0.0669933	0.00488	T	.	.	.	.	.	.	.	.	-0.541	0.00609	T	.	.	0.059	0.00793	B	.	.	-0.294309	0.02643	0.335	0.15538801178461156	0.00384	0.00338	0.01756	N	AEFBI	0.021699	0.00995	N	-2.14677206213676	0.00101	0.004315622	-2.20892277407453	0.00107	0.004697573	0.00161392486598595	0.08707	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	2.68	-5.35	0.02488	-1.054000	0.03607	.	.	-1.475000	0.01066	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.489:0.0:0.511	9.540	0.38411	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	37.66	78	chr19	8913808	.	T	C	37.66	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.634;DP=479;ExcessHet=0;FS=6.395;MLEAC=1;MLEAF=0.071;MQ=58.87;MQRankSum=-6.433;QD=0.88;ReadPosRankSum=-1.249;SOR=1.366	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:39,4:43:48:0|1:8913794_T_TTGGTATG:48,0,1626:8913794	6	0	1	0
chr19	8913809	8913809	G	A	exonic	MUC16	.	stopgain	MUC16:NM_024690:exon17:c.C37048T:p.Q12350X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1343794696	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.647	0.65844	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.299787	0.82950	D	0.192847	0.82730	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	Low	9.825524	0.99351	43	0.91393941691125624	0.20660	0.01948	0.05923	N	AEFBI	0.019628	0.00699	N	-0.0950171539886091	0.37610	2.190638	-0.572942064464123	0.20199	1.087212	7.90230937884117E-5	0.04552	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	2.68	-4.17	0.03595	0.024000	0.13447	.	.	-0.392000	0.05338	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.1432:0.1948:0.2692:0.3929	0.906	0.01203	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	37.64	78	chr19	8913809	.	G	A	37.64	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.292;DP=480;ExcessHet=0;FS=6.375;MLEAC=1;MLEAF=0.071;MQ=58.88;MQRankSum=-6.433;QD=0.88;ReadPosRankSum=-1.085;SOR=1.371	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:39,4:43:48:0|1:8913794_T_TTGGTATG:48,0,1626:8913794	6	0	1	0
chr19	12813107	12813107	A	G	exonic	RNASEH2A	.	nonsynonymous SNV	RNASEH2A:NM_006397:exon7:c.A662G:p.K221R	Aicardi-Goutieres syndrome 4, Autosomal recessive	0	1512	10	0	0	10	0.00329598	.	.	.	349395	not_specified|RNASEH2A-related_disorder|not_provided|Aicardi-Goutieres_syndrome_4	MedGen:CN169374|.|MedGen:C3661900|MONDO:MONDO:0012472,MedGen:C1835912,OMIM:610333,Orphanet:51	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.249	0.0371749357378	0.0003	0.000599042	0.0007	0	8.717e-05	0	0	0.0005	0.0011	0.0031	0.0006468	100	154602	rs143534021	0.0006	0.0006	0.0006	0.0007	0.0043	0.0006	0.0006	0.0030	0.0026	0.0001	0.0003	0.0001	2.519e-05	1.872e-05	0.0043	0.0006	0.0009	0.0025	0.0005	0.0005	0.0004	0.0005	0.0023	0.0004	0.0004	0.0013	0.0010	7.217e-05	0	0.0012	0	0	0	0.0171	0.0005	0.0009	0.0023	0.699	0.04188	T	0.571	0.08777	T	0.001	0.07471	B	0.008	0.13708	B	0.199993	0.16625	N	0.624961	1	0.08975	N	-0.335	0.03518	N	-2.1	0.86146	D	-0.38	0.13418	N	0.121	0.11197	-0.7478	0.58050	T	0.230	0.59509	T	10	0.010812551	0.00239	T	0.037175	0.57455	D	0.249	0.55752	.	.	0.616786663822	0.61368	0.4208885468041519	0.42004	0.174257037238	0.19618	0.211936354637	0.00896	T	0.225732	0.59055	T	-0.489752	0.00652	T	-0.481198	0.24320	T	0.00723378188493352	0.00083	T	0.821518	0.48098	T	0.08367291	0.19332	0.03665446	0.03155	0.09017332	0.21090	0.039111383	0.03929	-3.829	0.21238	T	0.09518085125828546	0.06450	0.057	0.00553	B	.	.	1.489055	0.19158	14.12	0.36174652323220918	0.02312	0.27360	0.23255	N	AEFBHCI	0.049408	0.08533	N	-1.43201309504675	0.02362	0.104217	-1.35462403025632	0.03751	0.1756521	0.0376333249734361	0.14307	0.732398	0.92422	0	0.709663	0.81188	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.59	-4.84	0.02920	0.345000	0.19720	.	.	-0.069000	0.16386	0.940000	0.32642	1.000000	0.68203	0.726000	0.34967	0.3286:0.1983:0.3814:0.0917	2.536	0.04428	484	0.77165	Ribonuclease HII/HIII domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002518	0.005051	0.002717	0.002924	0.000000	0.008621	0.000000	0.000000	0.08333	297.27	25	chr19	12813107	.	A	G	297.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.09;DP=189;ExcessHet=0;FS=1.74;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.16;ReadPosRankSum=-0.035;SOR=0.627	GT:AD:DP:GQ:PL	0/1:10,11:21:99:307,0,262	5	0	1	1
chr19	15440497	15440497	T	C	exonic	WIZ	.	nonsynonymous SNV	WIZ:NM_001371589:exon4:c.A497G:p.H166R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	0.00230748556829	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.226e-07	6.84e-07	0	1.464e-06	2.801e-05	0	0	.	.	0	2.801e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.253187	0.15466	N	0.542543	1	0.20516	N	.	.	.	.	.	.	.	.	.	.	.	-0.8955	0.48437	T	0.005	0.01725	T	7	0.09323636	0.16482	T	0.002307	0.04452	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.333267	0.07048	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	0.14062	B	.	.	1.525121	0.19577	14.33	0.83223256226601849	0.14608	0.05869	0.11816	N	AEFDBI	0.092726	0.18768	N	-0.579695181269596	0.19561	1.024797	-0.705011752864309	0.16836	0.8924919	1.23193011161588E-5	0.02871	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.604944	0.38103	0	.	.	5.23	-0.628	0.10958	0.812000	0.26869	.	.	0.665000	0.62972	0.039000	0.20931	1.000000	0.68203	0.551000	0.30197	0.0:0.3012:0.1527:0.5461	5.017	0.13683	653	0.62661	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2	36.58	1	chr19	15440497	.	T	C	36.58	.	AC=2;AF=0.2;AN=10;DP=12;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.2;MQ=60;QD=18.29;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	4	1	0	2
chr19	16750330	16750330	C	T	exonic	NWD1	.	nonsynonymous SNV	NWD1:NM_001347994:exon5:c.C1070T:p.T357M,NWD1:NM_001007525:exon6:c.C1688T:p.T563M,NWD1:NM_001290355:exon7:c.C1283T:p.T428M	.	435	1050	35	2	0	39	0.0182328	.	.	.	2811785	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.029	.	0.0052	0.00319489	0.0069	0.0009	0.0018	0	0.0024	0.0092	0.0059	0.0102	0.0065135	1007	154602	rs141300843	0.0064	0.0064	0.0062	0.0065	0.0188	0.0062	0.0062	0.0159	0.0148	0.0017	0.0028	0.0183	5.038e-05	0.0021	0.0188	0.0066	0.0065	0.0084	0.0044	0.0044	0.0046	0.0043	0.0077	0.0042	0.0040	0.0065	0.0063	0.0008	0	0.0018	0.0153	0	0.0024	0.0170	0.0070	0.0071	0.0077	0.158	0.23905	T	0.526	0.10245	T	0.082	0.24665	B	0.014	0.16862	B	0.241064	0.15710	N	0.640286	1	0.08975	N	-0.485	0.02676	N	0.47	0.56114	T	0.43	0.03297	N	0.066	0.06990	-1.0755	0.08246	T	0.037	0.15770	T	10	0.0032134652	0.00055	T	.	.	.	0.029	0.06676	.	.	0.0611884634855	0.05136	0.23055863881366614	0.22970	0.152614297505	0.17216	0.302149355412	0.10722	T	5.85E-4	0.00238	T	-0.551344	0.00286	T	-0.557921	0.16572	T	0.00625591657394117	0.00069	T	0.715328	0.32778	T	0.018980328	0.00422	0.03925748	0.03978	0.018980328	0.00422	0.03925748	0.03978	-2.588	0.07153	T	.	.	0.074	0.07745	B	.;.;.;.	.;.;.;.	0.796979	0.11677	8.258	0.07088336291344946	0.00035	0.00419	0.02071	N	AEFBI	0.024551	0.01538	N	-0.965319545037062	0.09351	0.4422479	-0.917865094440947	0.11672	0.5961045	2.7198815757485E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.04	2.48	0.29194	2.174000	0.42109	1.637000	0.27771	0.589000	0.31548	0.210000	0.24424	0.011000	0.20116	0.075000	0.16954	0.0:0.4509:0.0:0.549	4.816	0.12731	906	0.23090	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.025732	0.005051	0.031250	0.026471	0.000000	0.043103	0.012195	0.026515	0.08333	261.27	26	chr19	16750330	.	C	T	261.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.29;DP=180;ExcessHet=0;FS=1.713;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.88;ReadPosRankSum=-0.803;SOR=0.355	GT:AD:DP:GQ:PL	0/1:9,13:22:99:271,0,176	5	0	1	1
chr19	16869587	16869587	C	T	exonic	SIN3B	.	nonsynonymous SNV	SIN3B:NM_001297597:exon4:c.C704T:p.P235L,SIN3B:NM_001297595:exon13:c.C1934T:p.P645L,SIN3B:NM_015260:exon14:c.C2030T:p.P677L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.187	0.0547199203167	0.0002	.	0.0001	0.0001	0	0	0.0006	0.0001	0	0	9.06e-05	14	154602	rs143042146	8.692e-05	8.756e-05	8.58e-05	8.804e-05	9.712e-05	7.424e-05	6.972e-05	8.212e-05	7.632e-05	2.987e-05	2.236e-05	0	2.519e-05	0.0002	0	9.712e-05	9.935e-05	0	8.539e-05	8.536e-05	5.137e-05	0.0001	0.0001	4.956e-05	3.961e-05	4.765e-05	3.339e-05	9.646e-05	0	0	0	0	0.0002	0	0.0001	0	0	0.01	0.56456	D	0.023	0.57587	D	0.939	0.52645	P	0.357	0.43052	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.65	0.42232	L	0.95	0.43672	T	-2.78	0.59545	D	0.717	0.72388	-0.9501	0.40955	T	0.168	0.50697	T	10	0.29747635	0.47308	T	0.05472	0.65965	D	0.187	0.46274	.	.	0.187035705434	0.18338	0.5820060282427942	0.58129	1.01120329291	0.74783	0.669026613235	0.62699	T	0.249712	0.61971	T	-0.19409	0.21661	T	-0.312023	0.43441	T	0.331920469778608	0.26302	T	0.978169	0.92496	D	0.40134174	0.60826	0.20929268	0.45268	0.40134174	0.60826	0.20929268	0.45267	-11.821	0.83968	D	.	.	0.500	0.64599	A	.;.;.	.;.;.	4.425317	0.68583	25.3	0.99891604423692471	0.96589	0.97971	0.78532	D	AEFBI	0.766271	0.70250	D	0.213921967118372	0.51874	3.365347	0.268966569410399	0.53737	3.541128	0.999999975559644	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	4.36	4.36	0.51643	5.963000	0.70086	7.538000	0.60033	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	16.875	0.85915	970	0.06235	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	459.63	35	chr19	16869587	.	C	T	459.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.124;DP=206;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=16.42;ReadPosRankSum=-0.443;SOR=1.042	GT:AD:DP:GQ:PL	0/1:9,19:28:99:470,0,177	6	0	1	0
chr19	16878274	16878274	G	A	exonic	SIN3B	.	nonsynonymous SNV	SIN3B:NM_001297597:exon9:c.G1816A:p.V606M,SIN3B:NM_001297595:exon18:c.G3046A:p.V1016M,SIN3B:NM_015260:exon19:c.G3142A:p.V1048M	.	.	.	.	.	.	.	.	.	.	.	3311635	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.142	0.0243315889859	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1199662315	7.595e-06	8.209e-06	5.488e-06	9.73e-06	0.0001	4.08e-06	2.98e-06	3.491e-05	2.11e-05	0	0	0	0.0001	0	0	5.423e-06	0	1.185e-05	1.314e-05	1.313e-05	1.284e-05	1.345e-05	6.541e-05	2.18e-06	8.2e-07	.	.	0	0	6.541e-05	0	0	0	0	1.47e-05	0	0	0.056	0.38185	T	0.071	0.43531	T	0.87	0.52202	P	0.454	0.50368	P	0.000000	0.84330	D	0.000000	0.999975	0.53665	D	1.825	0.47900	L	0.77	0.49919	T	-0.97	0.25770	N	0.745	0.82358	-0.8402	0.52633	T	0.162	0.49814	T	10	0.56374615	0.64933	D	0.024332	0.47317	T	0.142	0.37995	0.563	0.68364	0.286597616719	0.28274	0.5993094019011134	0.59861	0.249796020238	0.27559	0.676941275597	0.63831	T	0.155007	0.49655	T	-0.0167962	0.49309	T	-0.261903	0.48633	T	0.670532584190369	0.39361	D	0.945505	0.79230	D	0.122304365	0.28743	0.12659553	0.30486	0.122304365	0.28743	0.12659553	0.30486	-4.364	0.29448	T	.	.	0.194	0.48458	B	.;.;.	.;.;.	4.971029	0.82265	27.7	0.9983015229268799	0.91198	0.98689	0.85611	D	AEFDBI	0.672329	0.63876	D	0.411066228512802	0.62028	4.412467	0.428835086052238	0.63367	4.569231	0.995291417949702	0.34050	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.92	4.92	0.64147	7.706000	0.83587	9.726000	0.81383	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.851000	0.40252	0.0:0.0:1.0:0.0	18.110	0.89461	970	0.06235	.;Sin3, C-terminal;Sin3, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1003.49	35	chr19	16878274	.	G	A	1003.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.901;DP=249;ExcessHet=0;FS=0.969;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.98;ReadPosRankSum=-0.863;SOR=0.603	GT:AD:DP:GQ:PL	0/1:24,43:67:99:1014,0,512	6	0	1	0
chr19	17286678	17286692	GTGTGTGTGTGTGTT	0	exonic	ANKLE1	.	.	.	.	559	741	214	4	4	226	0.130282	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	1882.08	33	chr19	17286678	.	GTGTGTGTGTGTGTT	*	1882.08	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.762;DP=270;ExcessHet=0;FS=3.296;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=19.4;ReadPosRankSum=2.35;SOR=0.397	GT:AD:DP:GQ:PL	1/0:0,1:6:21:241,167,211	4	0	2	1
chr19	17286684	17286684	G	0	exonic	ANKLE1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	898.39	27	chr19	17286684	.	G	*	898.39	.	AC=5;AF=0.417;AN=12;BaseQRankSum=0.286;DP=280;ExcessHet=0.7136;FS=19.529;MLEAC=5;MLEAF=0.417;MQ=60;MQRankSum=0;QD=5.72;ReadPosRankSum=2.23;SOR=0.155	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,5:6:16:.:.:220,16,0:.	3	2	1	1
chr19	17286686	17286692	GTGTGTT	0	exonic	ANKLE1	.	.	.	.	513	567	132	0	310	442	0.104265	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	372.06	21	chr19	17286686	.	GTGTGTT	*	372.06	.	AC=5;AF=0.417;AN=12;BaseQRankSum=1;DP=283;ExcessHet=0.1336;FS=1.953;MLEAC=5;MLEAF=0.417;MQ=60;MQRankSum=0;QD=2.84;ReadPosRankSum=0.379;SOR=0.544	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,5:6:16:.:.:220,16,0:.	3	2	1	1
chr19	17286688	17286692	GTGTT	0	exonic	ANKLE1	.	.	.	.	525	471	333	8	185	534	0.270333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5833	1295.06	21	chr19	17286688	.	GTGTT	*	1295.06	.	AC=7;AF=0.583;AN=12;BaseQRankSum=1.13;DP=282;ExcessHet=0.4139;FS=7.251;MLEAC=8;MLEAF=0.667;MQ=60;MQRankSum=0;QD=7.53;ReadPosRankSum=1.35;SOR=0.301	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,5:6:16:.:.:220,16,0:.	1	2	3	1
chr19	17286692	17286692	T	0	exonic	ANKLE1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8333	323.08	30	chr19	17286692	.	T	*	323.08	.	AC=10;AF=0.833;AN=12;BaseQRankSum=1.07;DP=273;ExcessHet=0;FS=2.13;MLEAC=10;MLEAF=0.833;MQ=60;MQRankSum=0;QD=1.77;ReadPosRankSum=0;SOR=1.506	GT:AD:DP:GQ:PL	1/1:0,6:6:36:519,36,0	0	4	2	1
chr19	17423731	17423731	G	T	exonic	MVB12A	.	nonsynonymous SNV	MVB12A:NM_138401:exon6:c.G572T:p.G191V,MVB12A:NM_001304547:exon7:c.G296T:p.G99V	.	422	1098	1	1	0	3	0.00136426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.06231881212	0.0008	0.000798722	0.0014	0.0002	0.0010	0	0.0014	0.0018	0.0022	0.0019	0.0014489	224	154602	rs147706400	0.0019	0.0019	0.0019	0.0019	0.0026	0.0019	0.0018	0.0023	0.0022	0.0002	0.0008	0.0013	0	0.0009	0.0003	0.0021	0.0016	0.0026	0.0013	0.0013	0.0013	0.0012	0.0023	0.0011	0.0011	0.0018	0.0017	0.0005	0	0.0003	0.0012	0	0.0008	0	0.0021	0.0005	0.0023	0.136	0.41637	T	0.094	0.39645	T	0.611	0.39680	P	0.196	0.36635	B	0.002062	0.37317	N	0.319630	0.999998	0.58761	D	2.14	0.59869	M	0.94	0.44461	T	-1.87	0.54059	N	0.281	0.31814	-0.9822	0.34491	T	0.097	0.36341	T	10	0.017296463	0.00368	T	0.062319	0.68616	D	0.051	0.14325	.	.	0.629257994256	0.62622	0.5300330700375808	0.52927	0.791390529637	0.65801	0.445301294327	0.31302	T	0.024227	0.30959	T	-0.0126329	0.49897	T	0.204462	0.83371	D	0.0326525676336048	0.02414	T	0.79532	0.43818	T	0.16926722	0.37433	0.12935969	0.31105	0.16926722	0.37432	0.12935969	0.31105	-4.663	0.32953	T	.	.	0.167	0.41572	B	.;.;.;.;.;.	.;.;.;.;.;.	3.666023	0.52110	23.2	0.96004349623463514	0.28425	0.91007	0.52679	D	AEFDBHCI	0.699396	0.65675	D	0.132627319647643	0.47991	3.017168	0.189267752520506	0.49258	3.131159	0.999617667478063	0.40981	0.736574	0.97449	0	0.743671	0.97443	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	5.1	5.1	0.68917	3.291000	0.51470	9.294000	0.79816	0.675000	0.71128	0.996000	0.39380	1.000000	0.68203	0.398000	0.26737	0.0:0.0:1.0:0.0	14.058	0.64307	684	0.59539	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	149.63	33	chr19	17423731	.	G	T	149.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.574;DP=190;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.35;ReadPosRankSum=0.546;SOR=0.527	GT:AD:DP:GQ:PL	0/1:10,6:16:99:160,0,299	6	0	1	0
chr19	18461595	18461595	C	T	exonic	ELL	.	nonsynonymous SNV	ELL:NM_006532:exon5:c.G727A:p.D243N	.	428	1088	5	1	0	7	0.0032066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.140	.	0.0010	0.00139776	0.0021	0.0001	0.0114	0.0001	0.0003	0.0009	0	0.0035	0.0019275	298	154602	rs139501652	0.0013	0.0013	0.0013	0.0014	0.0102	0.0013	0.0013	0.0094	0.0091	0.0002	0.0102	0	0	0.0006	0.0002	0.0010	0.0012	0.0028	0.0012	0.0012	0.0012	0.0013	0.0058	0.0011	0.0010	0.0048	0.0045	0.0003	0	0.0058	0	0	0.0003	0	0.0010	0.0009	0.0019	0.205	0.20002	T	0.59	0.10821	T	0.884	0.48618	P	0.394	0.44277	B	0.000000	0.84330	D	0.045988	0.999346	0.46733	D	1.665	0.42610	L	1.54	0.30133	T	-1.31	0.32791	N	0.584	0.60495	-1.0815	0.07060	T	0.073	0.29515	T	10	0.009842873	0.00221	T	.	.	.	0.140	0.37593	.	.	0.672091085021	0.66932	0.5249056043786161	0.52414	1.20271879538	0.80588	0.451839208603	0.32195	T	0.098427	0.40223	T	-0.589992	0.00168	T	-0.609871	0.11996	T	0.0187693613425618	0.00589	T	0.913009	0.72135	D	0.21907002	0.44430	0.16878498	0.38865	0.21907002	0.44430	0.16878498	0.38864	-5.56	0.42425	T	.	.	0.144	0.41888	B	.;.	.;.	2.879605	0.38101	20.7	0.99461889081134958	0.65840	0.93849	0.59369	D	AEFGBCI	0.567018	0.57277	D	0.0388668100051157	0.43633	2.652314	0.0148012308514344	0.40402	2.410536	0.999999720299646	0.74766	0.631981	0.41245	0	0.577304	0.33150	0	0.779548	0.98927	0	0.636168	0.56350	0	.	.	4.37	4.37	0.51830	4.624000	0.60955	4.807000	0.45013	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.010000	0.09038	0.0:1.0:0.0:0.0	16.095	0.80921	958	0.09170	RNA polymerase II elongation factor ELL, N-terminal;RNA polymerase II elongation factor ELL, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	84.63	25	chr19	18461595	.	C	T	84.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.837;DP=178;ExcessHet=0;FS=2.029;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=4.7;ReadPosRankSum=-0.141;SOR=0.269	GT:AD:DP:GQ:PL	0/1:12,6:18:95:95,0,291	6	0	1	0
chr19	18931351	18931351	G	A	exonic	HOMER3	.	nonsynonymous SNV	HOMER3:NM_001145724:exon7:c.C760T:p.R254C,HOMER3:NM_001145721:exon9:c.C868T:p.R290C,HOMER3:NM_001145722:exon9:c.C868T:p.R290C,HOMER3:NM_004838:exon9:c.C868T:p.R290C	.	416	1069	34	3	0	40	0.0183655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	.	0.0045	0.00399361	0.0068	0.0008	0.0114	0.0001	0.0033	0.0061	0.0022	0.0157	0.0062677	969	154602	rs78642721	0.0056	0.0056	0.0052	0.0060	0.0167	0.0055	0.0055	0.0160	0.0157	0.0007	0.0098	3.826e-05	0	0.0031	0.0106	0.0052	0.0052	0.0167	0.0040	0.0040	0.0038	0.0042	0.0141	0.0037	0.0036	0.0114	0.0104	0.0012	0	0.0044	0	0.0002	0.0027	0.0034	0.0056	0.0043	0.0141	0.066	0.36113	T	0.101	0.67890	T	1.0	0.90584	D	0.972	0.72692	D	0.000026	0.55875	D	0.111882	0.966903	0.25872	N	1.445	0.36358	L	2.15	0.19311	T	-0.22	0.10480	N	0.531	0.63035	-1.1407	0.01332	T	0.049	0.21065	T	10	0.004689038	0.00099	T	.	.	.	0.141	0.37795	.	.	0.313518423057	0.30959	0.35345698271732423	0.35259	1.25890098096	0.81979	0.553090393543	0.46294	T	0.039871	0.25338	T	-0.386508	0.02833	T	-0.314995	0.43120	T	0.0321068883043341	0.02323	T	0.933207	0.76886	D	0.2587144	0.48921	0.07418557	0.16201	0.2587144	0.48921	0.07418557	0.16201	-7.196	0.57744	T	.	.	0.209	0.48756	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.740104	0.53550	23.4	0.99545217354663218	0.70773	0.42051	0.26792	N	AEFDBI	0.160883	0.28687	N	-0.0442349400043013	0.39860	2.35759	-0.176968025269515	0.32385	1.841962	0.555651571828138	0.21372	0.67177	0.52595	0	0.550933	0.16991	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.33	1.46	0.21769	3.197000	0.50730	9.382000	0.80522	0.676000	0.76740	0.552000	0.27362	1.000000	0.68203	0.052000	0.15357	0.0799:0.1389:0.6381:0.1431	5.314	0.15154	934	0.15400	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006546	0.000000	0.000000	0.008772	0.000000	0.000000	0.009146	0.018939	0.1429	790.63	34	chr19	18931351	.	G	A	790.63	.	AC=2;AF=0.143;AN=14;DP=208;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=28.24;SOR=0.836	GT:AD:DP:GQ:PL	1/1:0,28:28:84:811,84,0	6	1	0	0
chr19	21536883	21536883	G	T	exonic	ZNF429	.	nonsynonymous SNV	ZNF429:NM_001346916:exon3:c.G638T:p.R213I,ZNF429:NM_001001415:exon4:c.G830T:p.R277I,ZNF429:NM_001346912:exon4:c.G824T:p.R275I,ZNF429:NM_001346914:exon4:c.G734T:p.R245I,ZNF429:NM_001346913:exon5:c.G734T:p.R245I,ZNF429:NM_001346915:exon5:c.G734T:p.R245I	.	409	1106	7	0	0	7	0.00315457	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	.	0.0002	0.00938498	0.0053	0.0001	0.0004	0.0001	0	0	0.0022	0.0380	0.004573	707	154602	rs199693920	0.0022	0.0022	0.0012	0.0033	0.0360	0.0022	0.0022	0.0349	0.0345	8.964e-05	0	0	0.0001	0	0.0012	1.62e-05	0.0026	0.0360	0.0013	0.0014	0.0006	0.0021	0.0406	0.0012	0.0011	0.0359	0.0342	9.655e-05	0	0	0	0.0004	0	0	2.943e-05	0.0005	0.0406	0.52	0.07259	T	0.216	0.26226	T	0.001	0.07471	B	0.002	0.06944	B	.	.	.	.	0.998642	0.45212	D	2.32	0.66415	M	1.83	0.24841	T	-0.53	0.16393	N	0.21	0.23380	-1.0889	0.05718	T	0.056	0.23450	T	9	0.0024617016	0.00037	T	.	.	.	0.023	0.04649	.	.	0.149567049428	0.14543	0.032585035518114376	0.03206	0.0363114546426	0.03840	0.337922990322	0.16126	T	0.007856	0.07238	T	-0.25824	0.13106	T	-0.608721	0.12089	T	0.0146768156497878	0.00304	T	0.49565	0.15376	T	0.071844876	0.15937	0.08453206	0.19454	0.071844876	0.15936	0.08453206	0.19454	-5.049	0.37367	T	.	.	0.090	0.12844	B	.;.	.;.	0.570695	0.09394	6.172	0.57253904702892233	0.05729	0.00146	0.00887	N	AEFBHCI	0.088706	0.17982	N	-1.01825197468345	0.08225	0.3849022	-1.16164642087675	0.06561	0.3162134	0.830466813901824	0.24684	0.562547	0.31514	0	0.588015	0.36545	0	0.608884	0.39905	0	0.564101	0.26826	0	.	.	0.876	0.876	0.18274	-0.126000	0.10539	.	.	0.234000	0.18175	0.000000	0.06391	0.000000	0.08366	0.137000	0.19835	0.0:0.0:1.0:0.0	8.563	0.32684	988	0.01987	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006566	0.000000	0.000000	0.002994	0.000000	0.000000	0.003049	0.030303	0.07143	546.46	40	chr19	21536883	.	G	T	546.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.314;DP=252;ExcessHet=0;FS=1.093;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.93;ReadPosRankSum=-0.719;SOR=0.748	GT:AD:DP:GQ:PL	0/1:26,24:50:99:557,0,662	6	0	1	0
chr19	22314172	22314172	C	G	exonic	ZNF729	.	nonsynonymous SNV	ZNF729:NM_001242680:exon4:c.C755G:p.T252S	.	422	1098	2	0	0	2	0.000909918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	.	.	0.00319489	0.0064	0	0.0009	0	0	0	0.0030	0.0216	0.0017335	268	154602	rs370723012	0.0010	0.0010	0.0006	0.0014	0.0155	0.0009	0.0009	0.0148	0.0146	0	2.564e-05	0	0	0	0.0002	5.477e-06	0.0011	0.0155	0.0006	0.0006	0.0003	0.0009	0.0178	0.0005	0.0005	0.0148	0.0137	9.626e-05	0	0	0	0	0	0	0	0	0.0178	.	.	.	0.464	0.12456	T	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.405	0.02972	N	1.3	0.35590	T	.	.	.	0.162	0.17002	-1.0085	0.27385	T	0.040	0.17234	T	6	0.0047943294	0.00101	T	.	.	.	.	.	.	.	0.0846915920261	0.08053	0.007743755641476406	0.00739	0.0305089366149	0.03155	0.310052752495	0.11915	T	0.005375	0.04821	T	-0.658626	0.00064	T	-0.705873	0.05510	T	0.0067528236684162	0.00076	T	0.147285	0.01216	T	0.03046829	0.02715	0.050854247	0.08067	0.03046829	0.02714	0.050854247	0.08066	-5.471	0.41596	T	.	.	0.101	0.17573	B	.	.	0.152330	0.05441	1.914	0.25056678380554304	0.01137	0.02122	0.06269	N	AEFBCI	0.029555	0.02811	N	-0.918723906899415	0.10404	0.4970345	-1.08274244213329	0.08040	0.3936002	1.64274840931023E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.01	1.01	0.19044	-1.178000	0.03203	.	.	0.376000	0.20365	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.6906:0.0:0.3093	3.394	0.06875	988	0.01987	Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002596	0.000000	0.000000	0.003521	0.000000	0.000000	0.000000	0.015152	0.07143	299.83	35	chr19	22314172	.	C	G	299.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.308;DP=202;ExcessHet=0;FS=1.446;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.67;ReadPosRankSum=0.481;SOR=1.179	GT:AD:DP:GQ:PL	0/1:18,13:31:99:310,0,445	6	0	1	0
chr19	22391514	22391516	TAT	-	exonic	ZNF98	.	nonframeshift deletion	ZNF98:NM_001098626:exon4:c.1719_1721del:p.*573*	.	464	1055	2	1	0	4	0.00189215	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00419329	0.0032	0	0	0	0	0	0	0.0477	0.0009221	24	26028	rs376917182	0.0011	0.0012	0.0006	0.0016	0.0193	0.0011	0.0011	0.0185	0.0182	0	2.932e-05	0	0	0	0.0004	6.482e-06	0.0012	0.0193	0.0007	0.0007	0.0004	0.0011	0.0226	0.0006	0.0006	0.0192	0.0179	9.623e-05	0	0	0	0	0	0	0	0	0.0226	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	503.5	34	chr19	22391513	.	CTAT	C	503.5	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.236;DP=205;ExcessHet=0;FS=1.41;MLEAC=1;MLEAF=0.071;MQ=40.62;MQRankSum=-1.471;QD=15.26;ReadPosRankSum=-0.038;SOR=1.193	GT:AD:DP:GQ:PL	0/1:19,14:33:99:514,0,746	6	0	1	0
chr19	29615357	29615357	G	A	exonic	POP4	.	nonsynonymous SNV	POP4:NM_006627:exon7:c.G640A:p.A214T	.	440	1060	21	1	0	23	0.0107326	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	.	0.0003	0.00259585	0.0014	0	0	0.0001	0	0.0004	0.0011	0.0088	0.001216	188	154602	rs143408535	0.0007	0.0007	0.0005	0.0010	0.0084	0.0007	0.0007	0.0078	0.0076	8.966e-05	0.0003	0	2.519e-05	1.873e-05	0.0082	0.0002	0.0011	0.0084	0.0006	0.0006	0.0004	0.0008	0.0106	0.0005	0.0005	0.0083	0.0075	9.639e-05	0	0.0003	0	0	0	0.0034	0.0004	0.0009	0.0106	.	.	.	0.477	0.12002	T	0.026	0.19406	B	0.005	0.11217	B	0.002919	0.35737	N	0.263220	0.833686	0.34957	D	1.405	0.35469	L	.	.	.	.	.	.	0.153	0.15749	-0.9484	0.41245	T	0.100	0.37060	T	9	0.008238256	0.00187	T	.	.	.	0.043	0.11576	.	.	0.252681307341	0.24864	0.5415715994778354	0.54082	0.135333160599	0.15256	0.398498415947	0.24859	T	0.026685	0.19696	T	-0.330749	0.06056	T	-0.241902	0.50613	T	0.0165160433832631	0.00415	T	0.851715	0.65300	D	0.1541593	0.34907	0.14179023	0.33753	0.1541593	0.34907	0.14179023	0.33752	-6.096	0.47076	T	.	.	0.103	0.18539	B	.;.	.;.	3.573730	0.50344	22.9	0.9962703304120808	0.75776	0.96603	0.69970	D	AEFDGBI	0.729455	0.67715	D	0.0184870462538853	0.42695	2.57744	0.236341159294988	0.51876	3.366491	0.999999923925911	0.74766	0.732398	0.92422	0	0.723133	0.82719	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	6.17	6.17	0.99707	3.977000	0.56581	8.551000	0.77529	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.831000	0.39176	0.0:0.0:0.8513:0.1487	15.248	0.73212	948	0.11499	Ribonuclease P/MRP, subunit p29;Ribonuclease P/MRP, subunit p29	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.000000	0.004076	0.000000	0.000000	0.008621	0.003049	0.007576	0.07143	357.49	38	chr19	29615357	.	G	A	357.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.685;DP=239;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.51;ReadPosRankSum=0.781;SOR=0.709	GT:AD:DP:GQ:PL	0/1:22,20:42:99:368,0,551	6	0	1	0
chr19	32999679	32999679	G	A	exonic	RHPN2	.	stopgain	RHPN2:NM_033103:exon10:c.C1132T:p.Q378X	.	392	647	479	4	0	487	0.273442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2531	0.3917	0.1262	0.2590	0.2378	0.2220	0.2567	0.3809	0.0003842	10	26028	rs78615454	1.45e-05	0.0007	1.512e-05	1.387e-05	0.0011	9.32e-06	7.91e-06	0.0005	0.0003	0	2.247e-05	0	0	0	0.0011	9.078e-07	0	0.0002	0	1.97e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.295	0.33360	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.195965	0.73516	D	0.652534	0.98317	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	9.996723	0.99494	44	0.99829210797084544	0.91112	0.99069	0.90771	D	AEFDBI	0.292062	0.40303	N	1.04336661485944	0.96932	15.344	0.880771434466692	0.94678	12.953	0.999999999954891	0.74766	0.67177	0.52595	0	0.708844	0.79440	0	0.702456	0.68683	0	0.567892	0.33627	0	.	.	4.72	4.72	0.59248	9.105000	0.93598	11.713000	0.94685	0.604000	0.46097	1.000000	0.71638	1.000000	0.68203	0.930000	0.46718	0.0:0.0:1.0:0.0	17.685	0.88159	819	0.41190	BRO1 domain|BRO1 domain|BRO1 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.282981	0.237374	0.312500	0.260234	0.250000	0.301724	0.234756	0.329545	0.25	769.34	158	chr19	32999679	.	G	A	769.34	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-2.574;DP=1011;ExcessHet=1.383;FS=2.539;MLEAC=3;MLEAF=0.25;MQ=54.18;MQRankSum=-3.924;QD=1.68;ReadPosRankSum=1.92;SOR=0.584	GT:AD:DP:GQ:PL	0/1:95,21:116:99:188,0,2576	3	0	3	1
chr19	35511468	35511480	ACCACTGCTGCCG	0	exonic	DMKN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	67.59	39	chr19	35511468	.	ACCACTGCTGCCG	*	67.59	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.967;DP=325;ExcessHet=1.1394;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=0.51;ReadPosRankSum=0;SOR=0.659	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:39,20:59:99:0|1:35511459_ACTGCTGCCACCACTGCTGCCGCCACTGCTGCCGCCACTGCTGCTGCCACTG_A:721,0,1540:35511459	5	0	2	0
chr19	35511491	35511491	C	0	exonic	DMKN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	971.47	32	chr19	35511491	.	C	*	971.47	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.835;DP=336;ExcessHet=1.1394;FS=0.593;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=5.92;ReadPosRankSum=0.13;SOR=0.626	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:39,20:59:99:0|1:35511459_ACTGCTGCCACCACTGCTGCCGCCACTGCTGCCGCCACTGCTGCTGCCACTG_A:721,0,1540:35511459	5	0	2	0
chr19	39244012	39244012	G	T	exonic	IFNL3	.	nonsynonymous SNV	IFNL3:NM_172139:exon3:c.C404A:p.A135D,IFNL3:NM_001346937:exon4:c.C416A:p.A139D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.226	0.019564859041	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.179	0.22053	T	0.008	0.67890	D	0.999	0.77913	D	0.953	0.69275	D	0.142293	0.18249	N	0.538685	0.92842	0.27120	N	2.38	0.68558	M	1.37	0.34253	T	-4.73	0.80085	D	0.651	0.66187	-0.9538	0.40310	T	0.138	0.45583	T	10	0.6231302	0.68091	D	0.019565	0.41966	T	0.226	0.52472	0.255	0.19533	0.491317756052	0.48765	0.2382460020690153	0.23738	0.928827575298	0.71745	0.376197427511	0.21717	T	0.058862	0.30959	T	-0.00544094	0.50903	T	-0.245592	0.50251	T	0.961462259292603	0.66090	D	0.592841	0.21881	T	0.47141865	0.65377	0.3472045	0.60377	0.47141865	0.65378	0.3472045	0.60377	-4.383	0.29326	T	.	.	0.135	0.30103	B	.;.	.;.	3.858353	0.55934	23.7	0.99055264159460732	0.51344	0.34185	0.25007	N	AEFDI	0.064220	0.12458	N	0.0274725665493288	0.43108	2.610173	-0.1196778734366	0.34597	1.991919	8.23984788863751E-5	0.04703	0.497415	0.19182	0	0.547309	0.14657	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	3.95	0.204	0.14476	0.116000	0.15393	.	.	0.520000	0.23804	0.494000	0.26909	0.321000	0.24323	0.925000	0.46118	0.1219:0.2037:0.4651:0.2093	1.859	0.02991	584	0.69381	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	557.49	33	chr19	39244012	.	G	T	557.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.012;DP=265;ExcessHet=0;FS=1.908;MLEAC=1;MLEAF=0.071;MQ=59.91;MQRankSum=-1.35;QD=6.88;ReadPosRankSum=0.566;SOR=0.747	GT:AD:DP:GQ:PL	0/1:53,28:81:99:568,0,1260	6	0	1	0
chr19	39502857	39502857	G	A	exonic	DLL3	.	nonsynonymous SNV	DLL3:NM_016941:exon4:c.G452A:p.R151H,DLL3:NM_203486:exon4:c.G452A:p.R151H	Spondylocostal dysostosis 1, autosomal recessive, Autosomal recessive	10	1502	9	1	0	11	0.00364842	.	.	.	348886	not_provided|Syndactyly|Spondylocostal_dysostosis_1,_autosomal_recessive	MedGen:C3661900|Human_Phenotype_Ontology:HP:0001159,Human_Phenotype_Ontology:HP:0001206,Human_Phenotype_Ontology:HP:0001236,MONDO:MONDO:0021002,MedGen:C0039075|MONDO:MONDO:0020692,MedGen:CN032975,OMIM:277300,Orphanet:2311	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.174	0.397350870972	.	.	0.0006	0	0	0	0	0.0008	0	0.0006	5.82e-05	9	154602	rs768310008	3.959e-05	6.977e-05	2.181e-05	5.797e-05	0.0035	3.045e-05	2.748e-05	0.0021	0.0017	3.936e-05	0	0	0	0	0.0035	7.833e-06	0.0001	0.0004	6.569e-06	6.562e-06	1.285e-05	0	.	0	0	.	.	0	0	0	0	0	0	0.0034	0	0	0	0.677	0.04469	T	0.167	0.32144	T	0.203	0.29776	B	0.026	0.20792	B	0.539171	0.11555	N	0.738070	0.75205	0.29628	N	1.26	0.31868	L	-2.36	0.88611	D	-0.53	0.16393	N	0.221	0.24758	-0.5302	0.67534	T	0.411	0.75957	T	9	0.10558531	0.19525	T	0.397351	0.93322	D	0.174	0.44019	0.516	0.61611	0.818448300927	0.81674	.	.	1.27933527	0.82483	0.829572975636	0.86496	D	0.203241	0.56166	T	-0.251469	0.13919	T	-0.273053	0.47510	T	0.0535422849706261	0.06111	T	0.79972	0.44511	T	0.07197476	0.15975	0.040523715	0.04399	0.07197476	0.15975	0.040523715	0.04399	-0.802	0.00871	T	0.08712667925166295	0.05086	0.128	0.27373	B	.;.	.;.	2.791694	0.36698	20.3	0.83156234692077224	0.14572	0.49131	0.28363	N	ALL	0.110231	0.21867	N	-0.941961866558352	0.09874	0.4692834	-0.930552622378665	0.11375	0.5791055	0.999999999999989	0.74766	0.652421	0.48094	0	0.596394	0.48810	0	0.64067	0.45733	0	0.636	0.56748	0	.	.	4.86	2.64	0.30504	0.454000	0.21539	.	.	0.567000	0.28720	0.002000	0.15269	1.000000	0.68203	0.022000	0.11911	0.0:0.1581:0.6777:0.1642	9.322	0.37132	814	0.42100	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002732	0.000000	0.002817	0.000000	0.000000	0.000000	0.006944	0.004065	0.08333	101.28	7	chr19	39502857	.	G	A	101.28	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.398;DP=124;ExcessHet=0;FS=2.808;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.25;ReadPosRankSum=0.7;SOR=0.707	GT:AD:DP:GQ:PL	0/1:4,5:9:89:111,0,89	5	0	1	1
chr19	39894111	39894111	C	T	exonic	FCGBP	.	nonsynonymous SNV	FCGBP:NM_003890:exon13:c.G5650A:p.G1884S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.00368281994172	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1206162291	0.0006	0.0007	0.0006	0.0005	0.0212	0.0005	0.0005	0.0197	0.0191	0.0212	0.0014	0	5.948e-05	0	0.0004	3.565e-05	0.0013	0.0002	0.0058	0.0085	0.0059	0.0057	0.0205	0.0055	0.0054	0.0193	0.0189	0.0205	0	0.0016	0	0	0	0.0034	0.0001	0.0033	0.0010	.	.	.	0.074	0.42976	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	-0.7386	0.58524	T	0.326	0.69444	T	9	0.008196473	0.00186	T	0.003683	0.08496	T	.	.	.	.	0.276898752692	0.27294	.	.	.	.	0.683795571327	0.64814	T	0.006019	0.05459	T	-0.530282	0.00382	T	-0.519553	0.20339	T	0.0285270361979982	0.01765	T	0.652935	0.26315	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.10642	B	.	.	1.470277	0.18941	14.01	0.98931592239940236	0.48750	0.01480	0.04926	N	AEFI	0.048306	0.08228	N	-0.545310874508605	0.20630	1.088995	-0.76449766190693	0.15366	0.8078197	2.90473458016278E-5	0.03498	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	1.92	1.92	0.24912	-0.381000	0.07475	.	.	0.420000	0.20791	0.000000	0.06391	0.000000	0.08366	0.062000	0.16114	0.0:0.6435:0.0:0.3565	4.002	0.09073	722	0.55239	von Willebrand factor, type D domain|Uncharacterised domain, cysteine-rich	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	889.44	99	chr19	39894111	.	C	T	889.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.687;DP=734;ExcessHet=0;FS=1.599;MLEAC=1;MLEAF=0.071;MQ=59.15;MQRankSum=-0.573;QD=8.31;ReadPosRankSum=-1.433;SOR=0.718	GT:AD:DP:GQ:PL	0/1:67,40:107:99:900,0,1628	6	0	1	0
chr19	41908505	41908505	A	G	exonic	ERFL	.	nonsynonymous SNV	ERFL:NM_001365103:exon6:c.T788C:p.L263P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.42e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31287235	0.48743	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.407359	0.10471	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	0.26451	B	.	.	4.466985	0.69576	25.4	0.80424789663363949	0.13196	0.71734	0.35141	D	AEFDBCI	.	.	.	.	.	.	.	.	.	0.999768883739223	0.42728	0.060467	0.00899	0	0.09434	0.02614	0	0.074216	0.02223	0	0.050693	0.00103	0	0.760335	0.45099	3.01	3.01	0.33872	3.371000	0.52107	11.000000	0.84761	0.679000	0.82387	1.000000	0.71638	1.000000	0.68203	0.971000	0.54645	1.0:0.0:0.0:0.0	9.402	0.37603	654	0.62520	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.125	33.85	1	chr19	41908505	.	A	G	33.85	.	AC=1;AF=0.125;AN=8;BaseQRankSum=-0.967;DP=8;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.25;MQ=60;MQRankSum=0;QD=11.28;ReadPosRankSum=-0.967;SOR=0.223	GT:AD:DP:GQ:PL	0/1:1,2:3:32:40,0,32	3	0	1	3
chr19	42271989	42271989	G	A	exonic	CIC	.	nonsynonymous SNV	CIC:NM_001304815:exon2:c.G206A:p.R69Q,CIC:NM_001379480:exon2:c.G206A:p.R69Q,CIC:NM_001379482:exon2:c.G206A:p.R69Q	.	381	1087	50	4	0	58	0.0259857	.	.	.	2752947	Intellectual_disability,_autosomal_dominant_45|CIC-related_disorder	MONDO:MONDO:0030910,MedGen:C4539848,OMIM:617600|.	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	0.00419329	0	0	.	.	0	0	.	.	0.0036115	94	26028	rs188464728	0.0030	0.0019	0.0030	0.0029	0.0244	0.0028	0.0027	0.0178	0.0155	0.0007	0.0035	0.0050	0.0001	0.0013	0.0244	0.0030	0.0032	0.0187	0.0026	0.0026	0.0025	0.0028	0.0201	0.0024	0.0023	0.0168	0.0156	0.0004	0	0.0036	0.0026	0.0010	0.0008	0.0136	0.0029	0.0038	0.0201	.	.	.	0.409	0.14588	T	.	.	.	.	.	.	.	.	.	.	0.999967	0.18878	N	.	.	.	-5.0	0.98525	D	.	.	.	0.074	0.04790	.	.	.	.	.	.	.	0.0054611266	0.00120	T	.	.	.	.	.	.	.	0.58454684225	0.58127	.	.	.	.	.	.	.	0.003292	0.31165	T	-0.326754	0.06361	T	-0.247063	0.50106	T	.	.	.	0.541546	0.26514	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.01859	B	.;.	.;.	0.516583	0.08853	5.633	0.80446239995739754	0.13207	0.31796	0.24427	N	AEFBCI	0.051563	0.09122	N	.	.	.	.	.	.	0.999988671698017	0.51787	0.722319	0.85440	0	0.698795	0.70079	0	0.645312	0.48771	0	0.714379	0.83352	0	.	.	4.08	-5.5	0.02373	-0.685000	0.05269	-1.411000	0.05502	-0.874000	0.02518	0.000000	0.06391	0.000000	0.08366	0.425000	0.27339	0.5491:0.1939:0.2569:0.0	6.592	0.21847	662	0.61715	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	264.63	32	chr19	42271989	.	G	A	264.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.39;DP=192;ExcessHet=0;FS=1.74;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.6;ReadPosRankSum=-0.705;SOR=0.991	GT:AD:DP:GQ:PL	0/1:11,10:21:99:275,0,266	6	0	1	0
chr19	42925985	42925985	T	C	exonic	PSG7	.	nonsynonymous SNV	PSG7:NM_001206650:exon4:c.A665G:p.Y222C,PSG7:NM_002783:exon5:c.A1031G:p.Y344C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.651e-05	0	0.0002	0	0	0	0	0	1.29e-05	2	154602	rs764507359	3.423e-06	3.422e-06	2.725e-06	4.129e-06	0.0002	1e-06	7.3e-07	7.42e-06	2.77e-06	0	4.474e-05	0	0	0	0.0002	1.8e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.92824	D	0.999	0.77913	D	0.998	0.88582	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.488	0.56145	.	.	.	.	.	.	.	0.12329286	0.23403	T	.	.	.	.	.	.	.	0.0611884634855	0.05136	0.08920940849193043	0.08853	.	.	0.50353717804	0.39320	T	0.031618	0.22125	T	-0.0088433	0.50429	T	-0.0746324	0.65294	T	.	.	.	0.985721	0.95244	D	0.12001723	0.28250	0.1710955	0.39266	0.12001723	0.28249	0.1710955	0.39265	-7.024	0.54209	T	.	.	0.233	0.52360	B	.;.;.	.;.;.	2.466897	0.31786	18.85	0.89102745964299823	0.18513	0.01235	0.04363	N	AEFI	0.045598	0.07476	N	.	.	.	.	.	.	1.59987085123386E-4	0.05650	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	.	.	1.34	1.34	0.21018	0.536000	0.22838	0.950000	0.22916	0.461000	0.21595	0.007000	0.17678	0.001000	0.17328	0.002000	0.04165	0.0:0.0:0.0:1.0	4.772	0.12531	757	0.50970	Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1614.44	33	chr19	42925985	.	T	C	1614.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.05;DP=320;ExcessHet=0;FS=0.633;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.21;ReadPosRankSum=-1.586;SOR=0.612	GT:AD:DP:GQ:PL	0/1:79,65:144:99:1625,0,1820	6	0	1	0
chr19	44991292	44991292	G	A	exonic	CLPTM1	.	nonsynonymous SNV	CLPTM1:NM_001282175:exon12:c.G1432A:p.V478I,CLPTM1:NM_001282176:exon12:c.G1168A:p.V390I,CLPTM1:NM_001294:exon12:c.G1474A:p.V492I	.	402	1119	1	0	0	1	0.000446628	.	.	.	3305781	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.062	0.0045075234587	.	.	0.0001	0	8.642e-05	0.0001	0.0006	1.499e-05	0.0011	0.0004	9.7e-05	15	154602	rs200044158	6.704e-05	6.704e-05	5.173e-05	8.251e-05	0.0008	5.629e-05	5.172e-05	0.0006	0.0006	2.987e-05	2.236e-05	0	7.557e-05	0.0002	0	1.259e-05	3.312e-05	0.0008	7.228e-05	7.223e-05	6.422e-05	8.072e-05	0.0010	3.971e-05	3.127e-05	0.0004	0.0003	7.241e-05	0	0	0	0.0002	9.411e-05	0	1.47e-05	0	0.0010	0.875	0.06184	T	1.0	0.01155	T	0.189	0.29346	B	0.106	0.31143	B	0.000005	0.62929	D	0.061993	0.999984	0.58761	D	0.475	0.13142	N	.	.	.	-0.25	0.12283	N	0.236	0.26596	-1.0837	0.06646	T	0.071	0.29066	T	9	0.065306515	0.08790	T	0.004508	0.11094	T	0.062	0.17934	.	.	0.138757226776	0.13463	0.46536711525995045	0.46455	0.682033757252	0.60087	0.440242350101	0.30610	T	0.053266	0.29395	T	-0.49307	0.00625	T	-0.581874	0.14378	T	0.0221046884781829	0.00921	T	0.827217	0.49094	T	0.030988406	0.02859	0.048032224	0.07048	0.030988406	0.02859	0.048032224	0.07048	-2.826	0.08425	T	.	.	0.08	0.07889	B	.;.;.	.;.;.	1.321114	0.17251	13.05	0.7439936658289229	0.10681	0.82954	0.42116	D	AEFDBHCI	0.528435	0.54996	D	-0.622285807539799	0.18276	0.947539	-0.430149637150463	0.24117	1.318895	0.994848254194089	0.33827	0.706548	0.73137	0	0.696144	0.67643	0	0.554053	0.18673	1	0.714379	0.83352	0	.	.	5.51	3.4	0.38031	1.646000	0.36865	.	.	-0.119000	0.14319	0.968000	0.34134	0.073000	0.22253	0.690000	0.33838	0.161:0.0:0.839:0.0	10.331	0.43005	835	0.38313	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002520	0.000000	0.000000	0.000000	0.000000	0.017241	0.000000	0.007576	0.07143	371.44	33	chr19	44991292	.	G	A	371.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.785;DP=220;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.61;ReadPosRankSum=-0.215;SOR=0.829	GT:AD:DP:GQ:PL	0/1:19,16:35:99:382,0,436	6	0	1	0
chr19	46623550	46623550	G	T	exonic	PTGIR	.	nonsynonymous SNV	PTGIR:NM_000960:exon2:c.C676A:p.P226T	.	415	1099	8	0	0	8	0.00362647	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.120	0.0321351691626	0.0023	0.00119808	0.0028	0.0004	0	0.0011	0	0.0029	0.0056	0.0037	0.0014748	228	154602	rs138619017	0.0032	0.0031	0.0032	0.0031	0.0037	0.0031	0.0031	0.0035	0.0035	0.0006	0.0009	3.97e-05	5.485e-05	0.0007	0.0014	0.0036	0.0027	0.0037	0.0018	0.0018	0.0019	0.0016	0.0032	0.0016	0.0015	0.0028	0.0027	0.0004	0.0011	0.0008	0	0.0004	0.0007	0	0.0032	0	0.0019	0.242	0.17584	T	0.404	0.28958	T	0.001	0.07471	B	0.006	0.12133	B	0.001994	0.37503	N	0.212063	0.998204	0.22293	N	1.24	0.30952	L	-0.56	0.71187	T	0.21	0.04776	N	0.115	0.15609	-0.9924	0.31985	T	0.207	0.56649	T	10	0.006464094	0.00146	T	0.032135	0.54044	D	0.120	0.33359	.	.	0.803076710568	0.80123	0.25088818352426273	0.25002	0.244669740564	0.26975	0.311068445444	0.12068	T	0.143075	0.47901	T	-0.392173	0.02605	T	-0.337895	0.40582	T	0.0199349362435175	0.00694	T	0.550545	0.20757	T	0.06434378	0.13640	0.06075568	0.11623	0.06434378	0.13640	0.06075568	0.11622	-5.408	0.40996	T	.	.	0.070	0.04723	B	.;.;.	.;.;.	1.150357	0.15382	11.81	0.092405976867989223	0.00090	0.75447	0.36940	D	AEFDBCI	0.460426	0.51061	N	-0.519159170535707	0.21461	1.139091	-0.433542960462797	0.24020	1.313013	0.999999984895463	0.74766	0.660085	0.49399	0	0.662677	0.63036	0	0.578056	0.29568	0	0.567892	0.33627	0	.	.	4.75	4.75	0.59954	2.821000	0.47765	5.256000	0.48107	0.676000	0.76740	0.993000	0.37899	1.000000	0.68203	0.003000	0.05239	0.0:0.0:1.0:0.0	15.283	0.73498	929	0.16858	GPCR, rhodopsin-like, 7TM;.;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001028	0.000000	0.004121	0.002959	0.000000	0.000000	0.003067	0.003788	0.07143	328.49	34	chr19	46623550	.	G	T	328.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.29;DP=236;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.95;ReadPosRankSum=-0.145;SOR=0.614	GT:AD:DP:GQ:PL	0/1:18,15:33:99:339,0,377	6	0	1	0
chr19	48703291	48703291	C	T	exonic	FUT2	.	nonsynonymous SNV	FUT2:NM_000511:exon2:c.C335T:p.P112L,FUT2:NM_001097638:exon2:c.C335T:p.P112L	.	419	1072	29	2	0	33	0.0151585	.	.	.	984435	Familial_Otitis_Media	.	no_assertion_criteria_provided	confers_sensitivity	.	.	.	.	.	.	.	.	0.734	.	0.0002	0.0373403	0.0191	0.0017	0.0017	0.0001	0	0.0002	0.0080	0.1352	0.0161511	2497	154602	rs200157007	0.0085	0.0085	0.0045	0.0125	0.1355	0.0083	0.0083	0.1334	0.1326	0.0009	0.0015	3.826e-05	0.0003	0	0.0057	0.0001	0.0075	0.1355	0.0055	0.0055	0.0028	0.0083	0.1580	0.0052	0.0050	0.1486	0.1449	0.0009	0	0.0016	0	0.0010	0	0	0.0001	0.0028	0.1580	0.0	0.91255	D	0.002	0.79402	D	0.985	0.61118	D	0.753	0.56122	P	.	.	.	.	0.999705	0.48408	D	3.005	0.85968	M	-3.99	0.96308	D	-8.71	0.97656	D	0.365	0.40665	0.938	0.96210	D	0.914	0.97163	D	9	0.0043191016	0.00087	T	.	.	.	0.734	0.90721	.	.	.	.	0.57160739618024	0.57088	0.681278943641	0.60039	0.493828564882	0.37970	T	0.194935	0.55086	T	0.0583719	0.59409	T	0.265519	0.86352	D	0.091322503377181	0.11374	T	0.989801	0.96720	D	0.5129859	0.67853	0.48962316	0.70470	0.525641	0.68583	0.5260209	0.72616	-13.0	0.89364	D	.	.	0.656	0.71435	P	.;.;.	.;.;.	3.676686	0.52308	23.2	0.99745540007452138	0.83852	0.80024	0.39775	D	AEFBI	0.245940	0.36678	N	0.231645178045518	0.52736	3.446166	0.0461554953908435	0.41885	2.52402	2.69943540582741E-4	0.06244	0.660377	0.49826	0	0.588066	0.40923	0	0.696353	0.63694	0	0.622129	0.49086	0	.	.	4.66	2.52	0.29514	3.221000	0.50917	4.382000	0.43185	0.589000	0.31548	0.970000	0.34288	0.996000	0.32793	0.083000	0.17415	0.0:0.817:0.0:0.183	9.142	0.36072	878	0.29785	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.016633	0.000000	0.004076	0.020468	0.000000	0.000000	0.003049	0.071970	0.07143	825.63	47	chr19	48703291	.	C	T	825.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.149;DP=367;ExcessHet=0;FS=3.679;MLEAC=1;MLEAF=0.071;MQ=54.97;MQRankSum=0.124;QD=14.24;ReadPosRankSum=-1.392;SOR=0.773	GT:AD:DP:GQ:PL	0/1:26,32:58:99:836,0,628	6	0	1	0
chr19	48888114	48888114	G	A	exonic	TULP2	.	nonsynonymous SNV	TULP2:NM_003323:exon8:c.C784T:p.R262C	.	.	.	.	.	.	.	.	.	.	.	2242084	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.175	0.0476949798999	7.7e-05	0.000599042	6.603e-05	0	8.652e-05	0	0	0.0001	0	0	7.76e-05	12	154602	rs139664178	1.847e-05	1.847e-05	1.906e-05	1.788e-05	0.0003	1.265e-05	1.084e-05	6.094e-05	2.522e-05	2.987e-05	0	0	0	5.616e-05	0.0003	1.529e-05	4.967e-05	1.159e-05	3.939e-05	3.937e-05	2.569e-05	5.37e-05	0.0002	1.714e-05	1.129e-05	1.972e-05	1.124e-05	0	0	6.54e-05	0	0.0002	0	0	5.88e-05	0	0	0.002	0.72154	D	0.054	0.47097	T	0.083	0.24734	B	0.015	0.17295	B	0.429674	0.04697	N	1.321480	1	0.08975	N	0.55	0.14455	N	-1.79	0.83815	D	-2.03	0.46673	N	0.294	0.33250	-0.8045	0.54879	T	0.261	0.63219	T	10	0.051667303	0.05084	T	0.047695	0.63038	D	0.175	0.44197	.	.	0.146414634003	0.14194	0.38713810995251113	0.38628	0.167635584131	0.18903	0.298270821571	0.10144	T	0.007797	0.07183	T	-0.109401	0.34866	T	-0.214627	0.53253	T	0.0399743695469365	0.03685	T	0.464953	0.20891	T	0.06902541	0.15089	0.060464237	0.11518	0.06902541	0.15088	0.060464237	0.11517	-3.865	0.21779	T	.	.	0.081	0.16319	B	.;.	.;.	0.726397	0.10958	7.620	0.79961021563450907	0.12980	0.03265	0.08300	N	AEFBI	0.135941	0.25643	N	-1.71029671938129	0.00806	0.0348308	-1.83088709962727	0.00665	0.02959333	0.0361280162429694	0.14231	0.740787	0.97801	0	0.588066	0.40923	0	0.767554	0.98243	0	0.613276	0.41899	0	.	.	4.52	-7.49	0.01212	0.581000	0.23520	0.358000	0.17546	-1.864000	0.00559	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.3849:0.0:0.1841:0.4309	4.642	0.11943	720	0.55521	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	520.44	34	chr19	48888114	.	G	A	520.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.18;DP=234;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.39;ReadPosRankSum=0.743;SOR=0.54	GT:AD:DP:GQ:PL	0/1:22,20:42:99:531,0,435	6	0	1	0
chr19	49395147	49395147	G	A	exonic	KASH5	.	nonsynonymous SNV	KASH5:NM_144688:exon4:c.G190A:p.V64M	.	416	1097	8	1	0	10	0.00453721	.	.	.	3226491	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.109	.	0.0080	0.00279553	0.0085	0.0013	0.0020	0	0.0291	0.0114	0.0093	0.0020	0.0076713	1186	154602	rs191973091	0.0083	0.0083	0.0083	0.0083	0.0086	0.0082	0.0081	0.0084	0.0084	0.0012	0.0022	0.0100	2.526e-05	0.0293	0.0079	0.0086	0.0068	0.0021	0.0078	0.0078	0.0073	0.0083	0.0096	0.0074	0.0073	0.0089	0.0087	0.0014	0.0230	0.0039	0.0098	0	0.0315	0.0102	0.0096	0.0085	0.0019	0.068	0.35726	T	0.026	0.92824	D	0.999	0.77913	D	0.998	0.88582	D	0.000238	0.47286	D	0.136560	0.874073	0.28159	N	2.125	0.59049	M	-0.02	0.62918	T	-1.59	0.38345	N	0.295	0.33360	-0.6227	0.63876	T	0.273	0.64422	T	10	0.007870406	0.00179	T	.	.	.	0.109	0.30843	.	.	0.735833905816	0.73347	0.6643417488216745	0.66371	0.530887566626	0.50614	0.526997745037	0.42612	T	0.03574	0.23835	T	-0.502887	0.00551	T	-0.485744	0.23837	T	0.0301283277180336	0.02010	T	0.768423	0.40554	T	0.093549944	0.21976	0.15117246	0.35622	0.093549944	0.21976	0.15117246	0.35621	-10.113	0.74586	D	.	.	0.172	0.37727	B	.;.;.;.;.	.;.;.;.;.	3.741900	0.53582	23.4	0.99838031671547356	0.91886	0.77967	0.38400	D	AEFGBI	0.257753	0.37643	N	0.439567380617221	0.63614	4.598544	0.380360262060152	0.60353	4.222107	0.0498018613299952	0.14818	0.497415	0.19182	0	0.547309	0.14657	0	0.573078	0.19857	0	0.542086	0.14980	0	.	.	4.67	3.64	0.40864	2.313000	0.43395	8.407000	0.77118	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.1045:0.0:0.8955:0.0	9.045	0.35505	778	0.48011	Protein KASH5, EF-hand-like domain;Protein KASH5, EF-hand-like domain;Protein KASH5, EF-hand-like domain;Protein KASH5, EF-hand-like domain;Protein KASH5, EF-hand-like domain	.	.	.	.	rs191973091	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004532	0.000000	0.004076	0.008772	0.050000	0.008621	0.006098	0.000000	0.07143	483.53	36	chr19	49395147	.	G	A	483.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.283;DP=205;ExcessHet=0;FS=1.711;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=17.27;ReadPosRankSum=-0.336;SOR=1.179	GT:AD:DP:GQ:PL	0/1:10,18:28:99:494,0,229	6	0	1	0
chr19	49818345	49818345	G	C	exonic	MED25	.	nonsynonymous SNV	MED25:NM_001378355:exon1:c.G4C:p.V2L,MED25:NM_030973:exon1:c.G4C:p.V2L	Basel-Vanagait-Smirin-Yosef syndrome, Autosomal recessive	2	1518	2	0	0	2	0.000658328	.	.	YES	470418	Charcot-Marie-Tooth_disease|Charcot-Marie-Tooth_disease_type_2	MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:166|MONDO:MONDO:0018993,MedGen:C0270914,Orphanet:64746	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.290	0.838103706693	.	.	9.571e-05	0	0.0012	0	0	0	0	8.744e-05	5.82e-05	9	154602	rs780512266	3.063e-05	3.215e-05	3.041e-05	3.086e-05	0.0004	2.322e-05	2.068e-05	0.0002	0.0002	0	0.0004	0	0	0	0.0004	1.456e-05	5.058e-05	8.28e-05	3.284e-05	3.283e-05	2.568e-05	4.034e-05	0.0002	1.261e-05	7.98e-06	5.283e-05	2.834e-05	0	0	0.0002	0	0	0	0	2.94e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	0.959	0.55135	D	0.757	0.56292	P	0.061958	0.22133	N	0.366776	0.668632	0.33121	D	1.39	0.34934	L	-1.19	0.78427	T	-1.3	0.32590	N	0.434	0.51405	-0.4647	0.69909	T	0.405	0.75536	T	10	0.38739985	0.54642	T	0.838104	0.98748	D	0.290	0.60924	.	.	0.771023738284	0.76892	0.26995544767388363	0.26908	0.934735217051	0.71977	0.937973678112	0.99376	D	0.063755	0.45322	T	-0.151886	0.28016	T	-0.12799	0.61141	T	0.205723570251182	0.20728	T	0.937106	0.76374	D	0.4615719	0.64769	0.5831992	0.75835	0.4615719	0.64769	0.5831992	0.75836	-12.266	0.86122	D	.	.	0.321	0.60172	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.160652	0.62477	24.5	0.98882354656705107	0.47841	0.70783	0.34735	D	ALL	0.681306	0.64470	D	0.310081989023658	0.56666	3.831596	0.296894743271604	0.55357	3.699	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	4.49	4.49	0.54177	7.067000	0.76435	7.828000	0.70003	0.569000	0.28856	1.000000	0.71638	1.000000	0.68203	0.188000	0.21541	0.0:0.0:1.0:0.0	14.541	0.67585	620	0.66037	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	231.27	17	chr19	49818345	.	G	C	231.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.908;DP=160;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.17;ReadPosRankSum=-0.207;SOR=0.892	GT:AD:DP:GQ:PL	0/1:11,8:19:99:241,0,330	5	0	1	1
chr19	51338094	51338094	C	G	exonic	VSIG10L	.	nonsynonymous SNV	VSIG10L:NM_001163922:exon6:c.G1844C:p.R615P	.	417	1082	23	0	0	23	0.0105167	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.178	.	.	0.00299521	0.0083	0.0026	0.0056	0	0.0026	0.0077	0.0135	0.0121	0.0021863	338	154602	rs200590126	0.0062	0.0059	0.0059	0.0064	0.0112	0.0061	0.0060	0.0091	0.0088	0.0009	0.0039	0.0073	2.798e-05	0.0018	0.0112	0.0065	0.0061	0.0096	0.0047	0.0047	0.0050	0.0044	0.0104	0.0044	0.0043	0.0081	0.0073	0.0015	0.0165	0.0050	0.0061	0	0.0011	0.0204	0.0067	0.0076	0.0104	0.022	0.48642	D	0.0	0.92824	D	0.999	0.77913	D	0.995	0.83170	D	0.000262	0.46590	D	0.000000	0.985134	0.40241	D	2.19	0.61577	M	2.41	0.15492	T	-3.75	0.71157	D	0.481	0.51583	-0.9615	0.38897	T	0.124	0.42673	T	10	0.007164091	0.00163	T	.	.	.	0.178	0.44724	.	.	0.117506650769	0.11410	0.9052432194662495	0.90497	.	.	0.612644076347	0.54690	T	0.121906	0.44520	T	-0.32016	0.06885	T	-0.22034	0.52704	T	0.0243673031474889	0.01191	T	0.69643	0.30590	T	0.80447996	0.84193	0.6295817	0.78395	0.80447996	0.84195	0.6295817	0.78396	-9.013	0.67781	D	.	.	0.845	0.79494	P	.	.	4.354890	0.66921	25.0	0.99791497073151891	0.87750	0.89768	0.50448	D	AEFDBI	0.531603	0.55181	D	0.623946875957094	0.74690	6.176048	0.566918533478033	0.72581	5.83268	0.999999940042173	0.74766	0.787689	0.99735	0	0.588066	0.40923	0	0.0	0.00061	3	0.567892	0.33627	0	.	.	5.03	5.03	0.67015	1.243000	0.32370	.	.	0.596000	0.33519	0.758000	0.29220	0.995000	0.32472	0.801000	0.37776	0.0:1.0:0.0:0.0	13.844	0.62956	976	0.04745	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005917	0.000000	0.000000	0.012500	0.000000	0.000000	0.000000	0.000000	0.07143	409.53	33	chr19	51338094	.	C	G	409.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.842;DP=229;ExcessHet=0;FS=1.186;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.9;ReadPosRankSum=2.4;SOR=0.438	GT:AD:DP:GQ:PL	0/1:24,22:46:99:420,0,521	6	0	1	0
chr19	52321764	52321764	T	A	exonic	ZNF480	.	nonsynonymous SNV	ZNF480:NM_001297624:exon4:c.T385A:p.S129T,ZNF480:NM_001297625:exon4:c.T283A:p.S95T,ZNF480:NM_144684:exon5:c.T514A:p.S172T	.	405	1116	1	0	0	1	0.000447828	.	.	.	2735313	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.069	0.00101856030814	.	0.000199681	0.0001	0	8.666e-05	0	0	0	0	0.0010	0.00011	17	154602	rs184656017	6.774e-05	6.772e-05	3.676e-05	9.905e-05	0.0010	5.671e-05	5.262e-05	0.0008	0.0008	0	0.0001	0	0	0	0.0002	2.698e-06	8.282e-05	0.0010	6.566e-05	6.562e-05	7.709e-05	5.371e-05	0.0010	3.514e-05	2.614e-05	0.0004	0.0003	0	0	0.0002	0.0003	0	0	0	1.47e-05	0	0.0010	0.677	0.07425	T	0.712	0.05488	T	0.992	0.64738	D	0.629	0.51727	P	.	.	.	.	1	0.08975	N	-0.52	0.02557	N	3.37	0.07478	T	-0.94	0.29933	N	0.082	0.12341	-1.0477	0.15045	T	0.009	0.03183	T	9	0.014533132	0.00306	T	0.001019	0.01120	T	0.069	0.20116	.	.	0.183819452728	0.17975	0.05341566685972739	0.05283	0.0539382263776	0.05956	0.23766118288	0.02583	T	0.019403	0.15464	T	-0.688608	0.00043	T	-0.838619	0.01120	T	0.0118679620387494	0.00185	T	0.0249975	0.00166	T	0.03534571	0.04141	0.04591135	0.06281	0.03534571	0.04141	0.04591135	0.06281	-4.34	0.28734	T	.	.	0.070	0.05447	B	.;.;.	.;.;.	0.498166	0.08672	5.444	0.86952444425774911	0.16886	0.01239	0.04373	N	AEFGBI	0.027946	0.02374	N	-1.16998954688367	0.05458	0.2489103	-1.24375511401188	0.05224	0.2484113	0.0029015405633596	0.09788	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	1.85	-2.14	0.06725	-1.222000	0.03074	.	.	0.360000	0.20082	0.000000	0.06391	0.000000	0.08366	0.414000	0.27095	0.3047:0.2946:0.0:0.4008	1.532	0.02385	988	0.01987	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1149.44	37	chr19	52321764	.	T	A	1149.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.288;DP=237;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=19.16;ReadPosRankSum=-2.314;SOR=0.794	GT:AD:DP:GQ:PL	0/1:15,45:60:99:1160,0,266	6	0	1	0
chr19	52322538	52322538	A	T	exonic	ZNF480	.	nonsynonymous SNV	ZNF480:NM_001297624:exon4:c.A1159T:p.N387Y,ZNF480:NM_001297625:exon4:c.A1057T:p.N353Y,ZNF480:NM_144684:exon5:c.A1288T:p.N430Y	.	320	1201	1	0	0	1	0.000416146	.	.	.	2735311	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.059	0.000946999899536	.	0.000199681	0.0001	0	8.672e-05	0	0	0	0	0.0010	0.0001164	18	154602	rs200977154	6.772e-05	6.772e-05	3.675e-05	9.901e-05	0.0010	5.67e-05	5.26e-05	0.0008	0.0008	0	0.0001	0	0	0	0.0002	2.698e-06	8.279e-05	0.0010	6.565e-05	6.562e-05	7.708e-05	5.37e-05	0.0010	3.514e-05	2.614e-05	0.0004	0.0003	0	0	0.0002	0.0003	0	0	0	1.47e-05	0	0.0010	0.002	0.78490	D	0.001	0.83351	D	0.975	0.58077	D	0.845	0.60432	P	.	.	.	.	1	0.26597	N	1.11	0.28643	L	3.2	0.07236	T	-6.22	0.91564	D	0.183	0.21056	-1.0840	0.06591	T	0.029	0.12453	T	9	0.014708549	0.00309	T	9.47E-4	0.00957	T	0.059	0.16972	.	.	0.128392430309	0.12331	0.06419016553692314	0.06358	0.353015961204	0.37122	0.25988009572	0.04877	T	0.144568	0.48126	T	-0.553661	0.00277	T	-0.646059	0.09232	T	0.196252174140527	0.20206	T	0.0853915	0.00631	T	0.25838166	0.48887	0.31959113	0.57919	0.25838166	0.48887	0.31959113	0.57918	-7.649	0.59816	D	.	.	0.181	0.39288	B	.;.;.	.;.;.	2.622781	0.34091	19.53	0.94351302870625964	0.24701	0.00194	0.01121	N	AEFDGBHCI	0.059725	0.11301	N	-0.979043025438482	0.09052	0.4268344	-1.28441368717734	0.04641	0.2193615	0.0488247633786697	0.14783	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	2.05	-4.11	0.03662	-2.843000	0.00805	.	.	0.550000	0.28109	0.000000	0.06391	0.000000	0.08366	0.752000	0.35857	0.2426:0.2882:0.326:0.1432	1.368	0.02072	988	0.01987	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	469.63	39	chr19	52322538	.	A	T	469.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.138;DP=222;ExcessHet=0;FS=4.454;MLEAC=1;MLEAF=0.071;MQ=59.6;MQRankSum=0;QD=10.92;ReadPosRankSum=0.39;SOR=1.365	GT:AD:DP:GQ:PL	0/1:23,20:43:99:480,0,568	6	0	1	0
chr19	53636878	53636878	C	T	exonic	DPRX	.	stopgain	DPRX:NM_001012728:exon3:c.C466T:p.R156X	.	423	1094	5	0	0	5	0.00227998	.	.	YES	590905	Short_stature	Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588	no_assertion_criteria_provided	Pathogenic	.	.	.	.	.	.	.	.	.	.	0.0004	.	0.0003	0	0.0004	0	0	0.0005	0.0011	6.057e-05	0.0002911	45	154602	rs201435914	0.0004	0.0004	0.0004	0.0004	0.0028	0.0003	0.0003	0.0017	0.0014	0.0001	0.0008	0.0002	5.038e-05	1.872e-05	0.0028	0.0004	0.0004	0.0002	0.0004	0.0004	0.0004	0.0004	0.0008	0.0003	0.0003	0.0005	0.0004	7.219e-05	0	0.0008	0.0003	0	9.425e-05	0.0034	0.0005	0.0014	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.998469	0.44953	D	.	.	.	.	.	.	.	.	.	0.047	0.01911	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0996016	0.64249	D	0.272887	0.86733	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant	High	7.357940	0.96433	36	0.98475909712978482	0.41919	0.09669	0.15373	N	AEFBI	0.045536	0.07460	N	0.166653448481506	0.49603	3.158862	-0.17800010153802	0.32347	1.839409	8.11487153404692E-5	0.04703	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.45	1.45	0.21708	1.136000	0.31079	.	.	0.573000	0.29008	0.675000	0.28393	0.017000	0.20586	0.360000	0.25886	0.0:1.0:0.0:0.0	6.332	0.20479	994	0.00715	.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.015152	0.000000	0.000000	0.000000	0.008621	0.003049	0.003788	0.07143	1243.44	40	chr19	53636878	.	C	T	1243.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.125;DP=308;ExcessHet=0;FS=0.717;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.73;ReadPosRankSum=-2.07;SOR=0.776	GT:AD:DP:GQ:PL	0/1:54,52:106:99:1254,0,1287	6	0	1	0
chr19	54739533	54739533	C	A	exonic	KIR2DL1;KIR2DL2;KIR2DL3;KIR2DS2;KIR2DS3;LOC102725023	.	nonsynonymous SNV	KIR2DS2:NM_001291695:exon2:c.C61A:p.P21T,KIR2DS2:NM_001291696:exon2:c.C61A:p.P21T,KIR2DS2:NM_001291700:exon2:c.C61A:p.P21T,KIR2DS2:NM_001291701:exon2:c.C61A:p.P21T,LOC102725023:NM_001360171:exon2:c.C61A:p.P21T,KIR2DS2:NM_012312:exon2:c.C61A:p.P21T,KIR2DS3:NM_012313:exon2:c.C61A:p.P21T,KIR2DL1:NM_014218:exon2:c.C61A:p.P21T,KIR2DL2:NM_014219:exon2:c.C61A:p.P21T,KIR2DL3:NM_015868:exon2:c.C61A:p.P21T	.	407	439	674	2	0	678	0.435733	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.000629482271791	.	.	1.26e-05	0	0	0	0	0	0	0.0002	0.0001153	3	26028	rs143258060	0.0001	0.0014	0.0001	0.0001	0.0003	0.0001	9.739e-05	0.0002	0.0002	0	0.0002	0	7.578e-05	0.0015	0.0002	4.598e-05	8.31e-05	0.0003	0.0003	0.0064	0.0002	0.0005	0.0007	0.0002	0.0002	0.0004	0.0003	9.821e-05	0	0.0007	0	0.0002	0.0010	0	0.0003	0	0.0004	0.0	0.91255	D	0.05	0.48080	T	0.039	0.21116	B	0.022	0.19653	B	.	.	.	.	1	0.08975	N	1.675	0.43121	L	7.25	0.00428	T	-2.83	0.59710	D	0.057	0.02861	-0.7967	0.55338	T	0.003	0.00929	T	9	0.04721421	0.04010	T	6.29E-4	0.00319	T	0.067	0.19503	0.275	0.22687	0.333906830038	0.33007	0.11003837353837338	0.10932	3.22852605899	0.99523	.	.	.	0.024485	0.18493	T	-0.40546	0.02131	T	-0.633654	0.10139	T	0.262085987067051	0.23406	T	.	.	.	0.08533072	0.19789	0.12122417	0.29249	0.08533072	0.19789	0.12122417	0.29248	-6.294	0.48674	T	.	.	0.091	0.13268	B	.	.	-0.337065	0.02459	0.283	0.40733743298301972	0.02894	0.00183	0.01069	N	AEFDGBI	0.020550	0.00823	N	-1.61360564278005	0.01198	0.05208234	-1.880969786367	0.00533	0.02366577	0.225960784001686	0.18410	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.418	-0.836	0.10225	-1.270000	0.02939	.	.	-4.224000	0.00037	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3954:0.2043:0.1975:0.2028	0.314	0.00272	964	0.07719	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4286	5690.48	294	chr19	54739533	.	C	A	5690.48	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-0.49;DP=1770;ExcessHet=8.2628;FS=0;MLEAC=6;MLEAF=0.429;MQ=55.69;MQRankSum=1.86;QD=3.35;ReadPosRankSum=1.3;SOR=0.752	GT:AD:DP:GQ:PL	0/1:222,49:271:99:625,0,6579	1	0	6	0
chr19	54752378	54752378	A	T	exonic	KIR2DL3	.	nonsynonymous SNV	KIR2DL3:NM_015868:exon8:c.A885T:p.E295D	.	438	644	313	127	0	567	0.30566	.	.	.	4025410	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.053	0.000595427967978	.	.	.	.	.	.	.	.	.	.	0.0002689	7	26028	rs76449138	0.0004	0.0045	0.0003	0.0006	0.0014	0.0004	0.0004	0.0012	0.0011	0.0009	0.0007	0.0004	0.0002	0.0006	0	0.0003	0.0006	0.0014	0.0004	0.0045	0.0004	0.0003	0.0008	0.0003	0.0003	0.0006	0.0005	0.0008	0	0.0004	0.0003	0	0.0003	0	0.0002	0	0.0006	0.017	0.51248	D	0.362	0.16865	T	0.009	0.15093	B	0.013	0.16460	B	.	.	.	.	1	0.08975	N	1.605	0.40863	L	7.17	0.00438	T	-1.3	0.32590	N	0.03	0.00717	-0.9072	0.47191	T	0.003	0.00800	T	9	0.06407854	0.08444	T	5.95E-4	0.00260	T	0.053	0.14996	0.345	0.33950	0.315609569513	0.31162	0.055351736594923893	0.05476	0.156621518827	0.17680	.	.	.	0.006609	0.06037	T	-0.243919	0.14853	T	-0.588149	0.13826	T	0.1719860881567	0.18714	T	.	.	.	0.072928816	0.16260	0.055293426	0.09672	0.072928816	0.16260	0.055293426	0.09672	-5.957	0.45918	T	.	.	0.102	0.17785	B	.	.	0.393611	0.07651	4.319	0.83992659330197972	0.15036	0.00398	0.01994	N	AEFI	0.034546	0.04300	N	-1.14210111889885	0.05910	0.2707387	-1.35039455156555	0.03801	0.1780508	3.36295698448585E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.06	-1.94	0.07158	0.608000	0.23921	.	.	0.538000	0.25075	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3959:0.0:0.0:0.6041	4.008	0.09100	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.3571	7320.09	202	chr19	54752378	.	A	T	7320.09	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-4.423;DP=1708;ExcessHet=0.4813;FS=0;MLEAC=5;MLEAF=0.357;MQ=55.45;MQRankSum=-20.94;QD=5.89;ReadPosRankSum=1.67;SOR=0.675	GT:AD:DP:GQ:PL	1/1:0,74:74:99:2009,222,0	3	1	3	0
chr19	54752434	54752434	G	C	exonic	KIR2DL3	.	nonsynonymous SNV	KIR2DL3:NM_015868:exon8:c.G941C:p.R314T	.	440	676	290	116	0	522	0.278549	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.000504783109797	.	.	9.107e-06	0	0	0	0	1.648e-05	0	0	0	0	26028	rs369659451	0.0001	0.0011	8.786e-05	0.0001	0.0006	0.0001	9.738e-05	0.0005	0.0004	0.0003	0.0001	0	0	0.0002	0.0002	8.061e-05	0.0001	0.0006	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.005	0.63226	D	0.336	0.18232	T	0.038	0.21002	B	0.013	0.16460	B	.	.	.	.	1	0.08975	N	2.005	0.54552	M	7.21	0.00433	T	-1.76	0.41618	N	0.15	0.15328	-0.9578	0.39589	T	0.001	0.00438	T	9	0.055743694	0.06139	T	5.05E-4	0.00153	T	0.018	0.03083	0.358	0.36060	0.197625483188	0.19356	0.07934385317345088	0.07869	0.381999604534	0.39540	.	.	.	0.008653	0.07927	T	-0.372433	0.03472	T	-0.772751	0.02679	T	0.0711279924993857	0.08808	T	.	.	.	0.058790613	0.11869	0.056505527	0.10109	0.058790613	0.11869	0.056505527	0.10109	-8.83	0.66596	D	.	.	0.103	0.18456	B	.	.	-0.693291	0.01336	0.074	0.50922294396745071	0.04470	0.00271	0.01473	N	AEFI	0.037209	0.05083	N	-1.83575514742651	0.00463	0.01994319	-2.00237195100838	0.00303	0.01337074	0.00114747052574219	0.08272	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.06	-2.12	0.06766	-2.589000	0.00974	.	.	-2.077000	0.00405	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2846:0.2349:0.4805:0.0	4.380	0.10722	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3571	9562.09	240	chr19	54752434	.	G	C	9562.09	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-0.957;DP=1961;ExcessHet=0.4813;FS=8.564;MLEAC=5;MLEAF=0.357;MQ=56.48;MQRankSum=-23.55;QD=6.43;ReadPosRankSum=2.55;SOR=1.069	GT:AD:DP:GQ:PL	1/1:0,71:71:99:1940,212,0	3	1	3	0
chr19	54752445	54752445	C	T	exonic	KIR2DL3	.	nonsynonymous SNV	KIR2DL3:NM_015868:exon8:c.C952T:p.R318C	.	444	649	317	112	0	541	0.294182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.000730226801608	.	.	.	.	.	.	.	.	.	.	.	.	.	rs372921221	7.35e-05	0.0008	5.213e-05	9.518e-05	0.0004	6.171e-05	5.67e-05	0.0003	0.0002	0.0004	0.0001	4.416e-05	2.548e-05	0.0001	0	4.228e-05	3.658e-05	0.0004	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.021	0.49117	D	0.101	0.38596	T	0.006	0.13644	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	1.61	0.41143	L	7.14	0.00441	T	-1.73	0.41046	N	0.081	0.05670	-0.9462	0.41615	T	0.001	0.00318	T	9	0.07376027	0.11187	T	7.3E-4	0.00491	T	0.046	0.12618	.	.	0.190952846119	0.18690	0.08507494458604588	0.08441	0.272347824251	0.29747	.	.	.	0.006919	0.06344	T	-0.301136	0.08553	T	-0.670337	0.07586	T	0.0816786993696317	0.10202	T	.	.	.	0.06286794	0.13178	0.048082765	0.07066	0.06286794	0.13177	0.048082765	0.07066	-8.692	0.65693	D	.	.	0.085	0.10159	B	.	.	0.663279	0.10314	7.048	0.77161828724750081	0.11761	0.00606	0.02697	N	AEFI	0.056180	0.10365	N	-1.90787109037655	0.00331	0.01420744	-2.03030551184277	0.00264	0.01165071	5.65618134037242E-5	0.04171	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.909	-1.82	0.07433	-0.238000	0.08995	.	.	-1.505000	0.01024	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2329:0.4799:0.2873:0.0	4.091	0.09446	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3571	11422.1	250	chr19	54752445	.	C	T	11422.1	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-0.166;DP=2001;ExcessHet=0.4813;FS=10.314;MLEAC=5;MLEAF=0.357;MQ=56.74;MQRankSum=-23.95;QD=7.48;ReadPosRankSum=0.898;SOR=1.243	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,64:64:99:1|1:54752445_C_T:2872,193,0:54752445	3	1	3	0
chr19	54752485	54752485	T	C	exonic	KIR2DL3	.	nonsynonymous SNV	KIR2DL3:NM_015868:exon8:c.T992C:p.I331T	.	458	776	181	107	0	395	0.202876	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.000598353408358	.	.	.	.	.	.	.	.	.	.	.	.	.	rs781524573	5.305e-06	0.0001	4.511e-06	6.112e-06	2.86e-05	2.21e-06	1.42e-06	4.75e-06	1.78e-06	0	0	0	0	5.995e-05	0	1.979e-06	0	2.86e-05	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.744	0.03653	T	0.196	0.27943	T	0.001	0.07471	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	1.075	0.27130	L	7.07	0.00449	T	1.38	0.00857	N	0.023	0.00407	-0.9420	0.42298	T	0.001	0.00318	T	9	0.04724872	0.04019	T	5.98E-4	0.00274	T	0.014	0.01968	0.471	0.54537	0.15556083564	0.15200	0.03272981040342714	0.03220	0.11650274929	0.13144	.	.	.	0.002103	0.01509	T	-0.435909	0.01367	T	-0.863929	0.00802	T	0.0462318255409502	0.04826	T	.	.	.	0.029743398	0.02519	0.04760247	0.06891	0.029743398	0.02518	0.04760247	0.06890	-0.729	0.00744	T	.	.	0.056	0.00487	B	.	.	-0.452449	0.02024	0.181	0.28219194255820729	0.01438	0.00196	0.01131	N	AEFI	0.020637	0.00835	N	-1.78857713604755	0.00574	0.02471146	-1.87148925175353	0.00557	0.02469536	2.05976653641204E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.909	-0.268	0.12295	-0.692000	0.05228	.	.	-3.068000	0.00129	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3083:0.394:0.2977	3.096	0.05931	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3571	5775.09	228	chr19	54752485	.	T	C	5775.09	.	AC=5;AF=0.357;AN=14;BaseQRankSum=7.34;DP=1552;ExcessHet=0.4813;FS=32.255;MLEAC=5;MLEAF=0.357;MQ=57.04;MQRankSum=-23.15;QD=4.11;ReadPosRankSum=-3.734;SOR=2.962	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,41:41:99:1|1:54752482_T_C:1845,123,0:54752482	3	1	3	0
chr19	54752511	54752511	G	A	exonic	KIR2DL3	.	nonsynonymous SNV	KIR2DL3:NM_015868:exon8:c.G1018A:p.E340K	.	471	887	74	90	0	254	0.125247	.	.	.	2330855	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.023	0.00058277682123	.	.	.	.	.	.	.	.	.	.	.	.	.	rs878939548	6.015e-06	0.0002	4.476e-06	7.577e-06	2.785e-05	2.59e-06	1.87e-06	4.62e-06	1.73e-06	0	0	0	0	3.975e-05	0	3.938e-06	0	2.785e-05	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.169	0.22920	T	0.141	0.33442	T	0.014	0.16867	B	0.053	0.25678	B	.	.	.	.	1	0.08975	N	1.56	0.39490	L	7.23	0.00430	T	-1.59	0.38345	N	0.036	0.01068	-0.9636	0.38488	T	0.002	0.00707	T	9	0.048668027	0.04349	T	5.83E-4	0.00246	T	0.023	0.04649	0.359	0.36222	0.201204373187	0.19734	0.14158577538071196	0.14081	0.485544564949	0.47430	.	.	.	0.006937	0.06364	T	-0.364647	0.03874	T	-0.761566	0.03056	T	0.472253292798996	0.31613	T	.	.	.	0.035863034	0.04304	0.048440736	0.07194	0.035863034	0.04303	0.048440736	0.07193	-4.19	0.26607	T	.	.	0.087	0.11317	B	.	.	-0.236831	0.02908	0.420	0.60687808817287325	0.06524	0.00049	0.00384	N	AEFI	0.023028	0.01229	N	-1.55887154151576	0.01484	0.06475221	-1.76960007506711	0.00862	0.03850489	6.95773214814763E-5	0.04366	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.909	-1.82	0.07433	-1.609000	0.02169	.	.	-1.067000	0.01603	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5547:0.0:0.4453:0.0	6.337	0.20509	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2857	2354.11	198	chr19	54752511	.	G	A	2354.11	.	AC=4;AF=0.286;AN=14;BaseQRankSum=5.29;DP=917;ExcessHet=0.0921;FS=50.49;MLEAC=4;MLEAF=0.286;MQ=57.33;MQRankSum=-13.01;QD=3.34;ReadPosRankSum=-1.291;SOR=4.606	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,28:28:84:1|1:54752511_G_A:1215,84,0:54752511	4	1	2	0
chr19	54760643	54760643	A	G	exonic	LOC112267881	.	unknown	UNKNOWN	.	418	697	407	0	0	407	0.225986	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1259531898	0.0011	0.0091	0.0010	0.0012	0.0039	0.0011	0.0010	0.0035	0.0034	0.0015	0.0031	0.0054	0.0008	0.0008	0.0022	0.0007	0.0013	0.0039	0.0012	0.0099	0.0011	0.0014	0.0034	0.0011	0.0010	0.0020	0.0016	0.0020	0	0.0023	0.0020	0.0008	0.0010	0.0036	0.0005	0.0010	0.0034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2857	3983.16	247	chr19	54760643	.	A	G	3983.16	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-2.095;DP=1331;ExcessHet=2.5225;FS=2.698;MLEAC=4;MLEAF=0.286;MQ=53.69;MQRankSum=-6.991;QD=3.24;ReadPosRankSum=-0.249;SOR=0.576	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:64,27:91:99:0|1:54760643_A_G:941,0,2588:54760643	3	0	4	0
chr19	54760651	54760651	G	C	exonic	LOC112267881	.	unknown	UNKNOWN	.	415	680	427	0	0	427	0.238948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1341664073	1.26e-05	0.0001	6.969e-06	1.828e-05	0.0002	7.87e-06	6.5e-06	7.234e-05	5.562e-05	0.0002	2.285e-05	0	0	0	0	9.212e-07	0	0.0001	2.732e-05	0.0006	1.334e-05	4.198e-05	0.0001	8.38e-06	5.3e-06	3.332e-05	1.97e-05	0.0001	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2857	4778.14	244	chr19	54760651	.	G	C	4778.14	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-3.015;DP=1348;ExcessHet=2.5225;FS=2.542;MLEAC=4;MLEAF=0.286;MQ=54.16;MQRankSum=-7.126;QD=3.82;ReadPosRankSum=-0.028;SOR=0.514	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:67,32:99:99:0|1:54760643_A_G:1142,0,2712:54760643	3	0	4	0
chr19	54760659	54760659	G	A	exonic	LOC112267881	.	unknown	UNKNOWN	.	417	909	196	0	0	196	0.0973188	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs57865271	1.259e-05	2.057e-05	1.532e-05	9.832e-06	3.033e-05	7.87e-06	6.49e-06	3.9e-06	2.82e-06	3.033e-05	2.283e-05	0	0	0	0	8.284e-06	0.0001	1.176e-05	4.775e-05	8.644e-05	3.992e-05	5.599e-05	0.0003	2.182e-05	1.574e-05	9.529e-05	5.69e-05	2.488e-05	0	0.0003	0	0	0	0	3.045e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	1099.24	242	chr19	54760659	.	G	A	1099.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-1.327;DP=1318;ExcessHet=0.3476;FS=0.55;MLEAC=2;MLEAF=0.143;MQ=52.82;MQRankSum=-4.982;QD=3.26;ReadPosRankSum=1.83;SOR=0.621	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:79,16:95:99:.:.:132,0,2936:.	5	0	2	0
chr19	54760665	54760665	T	C	exonic	LOC112267881	.	unknown	UNKNOWN	.	418	625	479	0	0	479	0.277039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1162810689	1.118e-05	5.691e-05	8.35e-06	1.404e-05	0.0002	6.62e-06	5.36e-06	0.0001	8.77e-05	0	2.281e-05	0	0	0	0	0	0	0.0002	0	7.312e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2857	5513.14	244	chr19	54760665	.	T	C	5513.14	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-3.812;DP=1350;ExcessHet=2.5225;FS=0.726;MLEAC=4;MLEAF=0.286;MQ=54.82;MQRankSum=-7.67;QD=4.38;ReadPosRankSum=1.99;SOR=0.582	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:59,35:94:99:0|1:54760643_A_G:1292,0,2372:54760643	3	0	4	0
chr19	54760676	54760676	T	A	exonic	LOC112267881	.	unknown	UNKNOWN	.	427	600	495	0	0	495	0.292035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1252325157	1.398e-05	8.023e-05	9.746e-06	1.826e-05	0.0002	9.13e-06	7.42e-06	0.0001	0.0001	0	2.283e-05	0	0	0	0	0	1.692e-05	0.0002	0	7.986e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2857	5599.14	246	chr19	54760676	.	T	A	5599.14	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-4.497;DP=1318;ExcessHet=2.5225;FS=0.718;MLEAC=4;MLEAF=0.286;MQ=55.59;MQRankSum=-8.13;QD=4.56;ReadPosRankSum=2.2;SOR=0.543	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:56,35:91:99:0|1:54760643_A_G:1301,0,2246:54760643	3	0	4	0
chr19	54760692	54760692	A	G	exonic	LOC112267881	.	unknown	UNKNOWN	.	419	580	521	2	0	525	0.311573	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1411892976	4.767e-05	0.0002	3.349e-05	6.197e-05	0.0006	3.82e-05	3.496e-05	0.0004	0.0004	0	2.29e-05	0	0	0	0.0002	1.384e-05	6.786e-05	0.0006	0	9.992e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2857	5802.16	226	chr19	54760692	.	A	G	5802.16	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-4.104;DP=1265;ExcessHet=2.5225;FS=1.486;MLEAC=4;MLEAF=0.286;MQ=56.08;MQRankSum=-8.859;QD=4.93;ReadPosRankSum=2.95;SOR=0.538	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:57,35:92:99:0|1:54760643_A_G:1298,0,2288:54760643	3	0	4	0
chr19	54760695	54760695	T	C	exonic	LOC112267881	.	unknown	UNKNOWN	.	420	579	521	2	0	525	0.311943	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1406047822	3.998e-05	0.0001	2.094e-05	5.918e-05	0.0006	3.124e-05	2.853e-05	0.0005	0.0004	0	2.291e-05	0	0	0	0	0	5.092e-05	0.0006	0	9.996e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2857	5832.16	226	chr19	54760695	.	T	C	5832.16	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-3.886;DP=1269;ExcessHet=2.5225;FS=1.497;MLEAC=4;MLEAF=0.286;MQ=56.09;MQRankSum=-8.859;QD=5;ReadPosRankSum=2.92;SOR=0.528	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:58,35:93:99:0|1:54760643_A_G:1295,0,2326:54760643	3	0	4	0
chr19	54767313	54767313	G	C	exonic	KIR2DL1;LOC112267881	.	nonsynonymous SNV	KIR2DL1:NM_014218:exon8:c.G992C:p.R331T	.	436	1047	27	12	0	51	0.0237762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs4020182	1.906e-05	2.713e-05	2.388e-05	1.419e-05	4.618e-05	1.305e-05	1.119e-05	1.508e-05	1.267e-05	0	4.618e-05	0	0	1.907e-05	0	2.23e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	275.24	258	chr19	54767313	.	G	C	275.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.202;DP=1608;ExcessHet=0.3476;FS=7.148;MLEAC=2;MLEAF=0.143;MQ=57.61;MQRankSum=-4.389;QD=1.92;ReadPosRankSum=-0.101;SOR=1.585	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:109,13:122:99:0|1:54767313_G_C:218,0,4538:54767313	5	0	2	0
chr19	54767314	54767314	A	C	exonic	KIR2DL1;LOC112267881	.	nonsynonymous SNV	KIR2DL1:NM_014218:exon8:c.A993C:p.R331S	.	437	1046	27	12	0	51	0.0237984	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs4020183	9.31e-05	0.0054	7.637e-05	0.0001	0.0003	7.988e-05	7.514e-05	0.0002	0.0001	0.0003	0.0003	0.0002	0.0001	0.0001	0.0002	7.38e-05	5.179e-05	0.0001	0.0002	0.0045	0.0002	0.0003	0.0005	0.0002	0.0002	0.0001	9.824e-05	0.0002	0	0.0003	0	0.0002	0	0.0039	0.0002	0.0016	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	317.24	258	chr19	54767314	.	A	C	317.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.673;DP=1609;ExcessHet=0.3476;FS=5.091;MLEAC=2;MLEAF=0.143;MQ=57.58;MQRankSum=-4.389;QD=2.2;ReadPosRankSum=-0.05;SOR=1.348	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:109,14:123:99:0|1:54767313_G_C:260,0,4535:54767313	5	0	2	0
chr19	54767315	54767315	G	A	exonic	KIR2DL1;LOC112267881	.	nonsynonymous SNV	KIR2DL1:NM_014218:exon8:c.G994A:p.V332M	.	436	1047	27	12	0	51	0.0237762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1339510286	2.758e-05	0.0016	1.97e-05	3.554e-05	0.0001	2.065e-05	1.813e-05	4.488e-05	2.953e-05	6.119e-05	0.0001	8.191e-05	5.081e-05	1.91e-05	0	1.767e-05	3.428e-05	7.226e-05	0.0001	0.0020	6.973e-05	0.0002	0.0005	7.182e-05	5.784e-05	0.0001	6.24e-05	2.598e-05	0	0.0003	0	0.0002	0	0	0.0001	0	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	356.24	258	chr19	54767315	.	G	A	356.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.456;DP=1611;ExcessHet=0.3476;FS=3.425;MLEAC=2;MLEAF=0.143;MQ=57.51;MQRankSum=-4.389;QD=2.44;ReadPosRankSum=-0.265;SOR=1.179	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:110,15:125:99:0|1:54767313_G_C:299,0,4561:54767313	5	0	2	0
chr19	54767322	54767322	C	T	exonic	KIR2DL1;LOC112267881	.	nonsynonymous SNV	KIR2DL1:NM_014218:exon8:c.C1001T:p.T334M	.	436	1034	40	12	0	64	0.0300188	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1274559595	3.256e-05	0.0020	3.239e-05	3.273e-05	0.0002	2.496e-05	2.232e-05	7.519e-05	5.313e-05	0.0001	0.0002	8.218e-05	0.0001	1.911e-05	0	1.768e-05	3.432e-05	8.472e-05	0.0001	0.0028	8.339e-05	0.0002	0.0004	9.419e-05	7.868e-05	0.0001	9.679e-05	2.591e-05	0	0.0004	0	0.0002	0	0	0.0002	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	401.24	258	chr19	54767322	.	C	T	401.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.506;DP=1612;ExcessHet=0.3476;FS=4.824;MLEAC=2;MLEAF=0.143;MQ=57.34;MQRankSum=-4.154;QD=2.75;ReadPosRankSum=-0.056;SOR=1.284	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:111,16:127:99:0|1:54767313_G_C:338,0,4529:54767313	5	0	2	0
chr19	54767339	54767339	G	A	exonic	KIR2DL1;LOC112267881	.	nonsynonymous SNV	KIR2DL1:NM_014218:exon8:c.G1018A:p.E340K	.	437	984	91	10	0	111	0.0533911	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1372790026	1.835e-05	2.225e-05	2.247e-05	1.418e-05	2.535e-05	1.277e-05	1.085e-05	1.422e-05	1.188e-05	0	0	0	2.535e-05	1.906e-05	0	2.136e-05	1.709e-05	0	6.928e-06	6.727e-06	1.348e-05	0	1.538e-05	0	0	.	.	0	0	0	0	0	0	0	1.538e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	398.24	258	chr19	54767339	.	G	A	398.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.336;DP=1613;ExcessHet=0.3476;FS=0.912;MLEAC=2;MLEAF=0.143;MQ=57.34;MQRankSum=-4.519;QD=2.71;ReadPosRankSum=0.849;SOR=0.766	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:110,15:125:99:0|1:54767339_G_A:299,0,4556:54767339	5	0	2	0
chr19	54767342	54767342	T	C	exonic	KIR2DL1;LOC112267881	.	nonsynonymous SNV	KIR2DL1:NM_014218:exon8:c.T1021C:p.S341P	.	439	981	92	10	0	112	0.0540019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1213695475	0.0003	0.0051	0.0002	0.0003	0.0011	0.0002	0.0002	0.0009	0.0008	0.0004	0.0011	0.0003	0.0003	0.0002	0.0002	0.0002	0.0002	0.0002	0.0005	0.0067	0.0006	0.0004	0.0011	0.0004	0.0004	0.0009	0.0008	0.0011	0.0012	0.0004	0.0003	0	0	0.0037	0.0002	0.0016	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	392.24	258	chr19	54767342	.	T	C	392.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.685;DP=1614;ExcessHet=0.3476;FS=0.911;MLEAC=2;MLEAF=0.143;MQ=57.36;MQRankSum=-4.736;QD=2.63;ReadPosRankSum=1.02;SOR=0.766	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:110,15:125:99:0|1:54767339_G_A:299,0,4566:54767339	5	0	2	0
chr19	54767349	54767349	C	-	exonic	KIR2DL1;LOC112267881	.	frameshift deletion	KIR2DL1:NM_014218:exon8:c.1028delC:p.S343fs	.	439	964	109	10	0	129	0.0627127	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.062e-07	3.477e-06	1.406e-06	0	2.535e-05	0	0	.	.	0	0	0	2.535e-05	0	0	0	0	0	0	6.726e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	350.2	258	chr19	54767348	.	TC	T	350.2	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.144;DP=1613;ExcessHet=0.3476;FS=0.943;MLEAC=2;MLEAF=0.143;MQ=57.51;MQRankSum=-4.736;QD=2.37;ReadPosRankSum=1.45;SOR=0.553	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:110,14:124:99:0|1:54767339_G_A:257,0,4577:54767339	5	0	2	0
chr19	54767352	54767354	AAG	-	exonic	KIR2DL1;LOC112267881	.	nonframeshift deletion	KIR2DL1:NM_014218:exon8:c.1031_1033del:p.344_345del	.	437	959	116	10	0	136	0.0662123	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.118e-06	3.477e-06	2.811e-06	1.419e-06	2.535e-05	5.6e-07	1.6e-07	.	.	0	0	0	2.535e-05	0	0	0	1.709e-05	1.198e-05	0	6.715e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	368.2	258	chr19	54767351	.	AAAG	A	368.2	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.198;DP=1618;ExcessHet=0.3476;FS=0;MLEAC=2;MLEAF=0.143;MQ=57.4;MQRankSum=-4.943;QD=2.45;ReadPosRankSum=1.69;SOR=0.654	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:109,15:124:99:0|1:54767339_G_A:281,0,4524:54767339	5	0	2	0
chr19	54767353	54767353	A	0	exonic	KIR2DL1;LOC112267881	.	.	.	.	444	526	404	111	37	663	0.373063	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	20255.9	293	chr19	54767353	.	A	*	20255.9	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-4.438;DP=1947;ExcessHet=1.4958;FS=0;MLEAC=2;MLEAF=0.143;MQ=58.6;MQRankSum=-0.648;QD=11.89;ReadPosRankSum=0.346;SOR=0.709	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:0,15:116:99:.:.:3181,2846,4398:.	5	0	2	0
chr19	54773464	54773464	G	C	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon3:c.G202C:p.D68H,KIR2DL1:NM_014218:exon3:c.G202C:p.D68H,KIR2DS1:NM_014512:exon3:c.G202C:p.D68H,KIR2DS5:NM_014513:exon3:c.G202C:p.D68H	.	425	856	241	0	0	241	0.1234	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.000804883088689	.	.	.	.	.	.	.	.	.	.	.	.	.	rs745536485	6.26e-06	0.0002	5.539e-06	6.987e-06	2.264e-05	2.95e-06	2.13e-06	3.15e-06	2.28e-06	0	2.264e-05	0	0	0	0	7.325e-06	0	0	0.0001	0.0024	0.0001	0.0001	0.0004	7.39e-05	6.091e-05	8.225e-05	5.802e-05	0.0002	0	0.0002	0	0	0	0	7.634e-05	0	0.0004	0.064	0.38407	T	0.247	0.23914	T	0.444	0.35956	B	0.198	0.36766	B	.	.	.	.	1	0.08975	N	.	.	.	2.03	0.20959	T	-2.52	0.54702	D	0.188	0.25130	-1.0056	0.28277	T	0.041	0.17657	T	9	0.1068652	0.19824	T	8.05E-4	0.00629	T	0.038	0.09825	0.276	0.22845	0.283761946502	0.27984	0.08192545392014942	0.08127	0.476618817085	0.46789	0.428809553385	0.29046	T	0.010046	0.09105	T	-0.210968	0.19242	T	-0.540818	0.18217	T	0.0742162314790902	0.09230	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.29833	B	.;.	.;.	0.494158	0.08635	5.403	0.86631705629094091	0.16667	0.00709	0.03002	N	AEFDBI	0.050506	0.08834	N	-0.947669841844548	0.09745	0.4625647	-1.15399594513377	0.06696	0.3231991	1.94292267281438E-5	0.02871	0.500041	0.20204	0	0.563428	0.19063	0	0.547309	0.15389	0	0.503917	0.08554	0	.	.	1.24	-1.93	0.07180	-0.459000	0.06805	.	.	-0.401000	0.05297	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2328:0.3114:0.4559:0.0	2.604	0.04579	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2143	3166.72	462	chr19	54773464	.	G	C	3166.72	.	AC=3;AF=0.214;AN=14;BaseQRankSum=1.64;DP=2411;ExcessHet=1.1394;FS=6.511;MLEAC=3;MLEAF=0.214;MQ=57.6;MQRankSum=-8.104;QD=3.43;ReadPosRankSum=-1.185;SOR=1.392	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:178,34:212:99:.:.:732,0,7024:.	4	0	3	0
chr19	54773510	54773510	C	G	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon3:c.C248G:p.A83G,KIR2DL1:NM_014218:exon3:c.C248G:p.A83G,KIR2DS1:NM_014512:exon3:c.C248G:p.A83G,KIR2DS5:NM_014513:exon3:c.C248G:p.A83G	.	428	768	326	0	0	326	0.175081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.00119558056772	.	.	.	.	.	.	.	.	.	.	.	.	.	rs530076007	0.0001	0.0040	0.0002	0.0001	0.0005	0.0001	0.0001	0.0003	0.0003	0.0005	0.0002	0	2.556e-05	1.91e-05	0	0.0002	0.0001	0.0001	4.77e-05	0.0026	2.662e-05	6.981e-05	0.0002	2.18e-05	1.572e-05	1.992e-05	1.052e-05	7.514e-05	0	0	0	0.0002	0	0	4.565e-05	0	0	0.053	0.40832	T	0.104	0.38160	T	0.1	0.25713	B	0.33	0.42079	B	.	.	.	.	1	0.08975	N	.	.	.	2.06	0.20523	T	-2.38	0.52451	N	0.208	0.23758	-0.8637	0.50995	T	0.092	0.35119	T	9	0.13614216	0.25903	T	0.001196	0.01533	T	0.067	0.19503	0.605	0.73706	0.405150804464	0.40131	0.04592118071307132	0.04536	0.346524564405	0.36559	0.357214689255	0.18980	T	0.045691	0.27199	T	-0.175925	0.24344	T	-0.490481	0.23340	T	0.2225591391325	0.21591	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.138	0.32922	B	.;.	.;.	1.122996	0.15092	11.58	0.93936832440862883	0.23989	0.00979	0.03733	N	AEFDBI	0.047211	0.07926	N	-0.935946201820849	0.10011	0.4763772	-1.14448522620441	0.06868	0.3320446	1.159795150757E-5	0.02871	0.500041	0.20204	0	0.563428	0.19063	0	0.547309	0.15389	0	0.503917	0.08554	0	.	.	1.24	0.116	0.13953	0.259000	0.18174	.	.	-0.444000	0.05162	0.004000	0.16614	0.000000	0.08366	0.001000	0.02609	0.0:0.7435:0.0:0.2565	3.815	0.08327	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2143	5555.72	453	chr19	54773510	.	C	G	5555.72	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-0.685;DP=2656;ExcessHet=1.1394;FS=3.317;MLEAC=3;MLEAF=0.214;MQ=57.62;MQRankSum=-11.98;QD=5.22;ReadPosRankSum=2.14;SOR=1.009	GT:AD:DP:GQ:PL	0/1:190,62:252:99:1871,0,5096	4	0	3	0
chr19	54804844	54804844	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A128G:p.Q43R,KIR2DL4:NM_001080772:exon3:c.A128G:p.Q43R	.	401	1030	89	2	0	93	0.0431955	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.00113660302036	.	.	.	.	.	.	.	.	.	.	0.0003074	8	26028	rs867586202	1.369e-06	2.737e-06	0	2.752e-06	2.995e-05	2.3e-07	9e-08	.	.	2.995e-05	0	0	0	0	0	0	0	1.164e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.171	0.23997	T	0.596	0.08052	T	0.005	0.12996	B	0.004	0.14941	B	0.135009	0.02839	U	2.391850	1	0.08975	N	0.575	0.15311	N	2.65	0.12676	T	-1.42	0.38540	N	0.098	0.10769	-1.0000	0.29917	T	0.021	0.08778	T	10	0.07379338	0.11196	T	0.001137	0.01410	T	0.004	0.00165	.	.	0.117191471859	0.11215	0.2764269249833639	0.27555	1.63837144597	0.89330	.	.	.	.	.	.	-0.375957	0.03303	T	-0.777812	0.02520	T	0.0943192406486319	0.11720	T	.	.	.	.	.	.	.	.	.	.	.	-6.927	0.54645	T	.	.	0.067	0.04002	B	.;.;.;.	.;.;.;.	-1.101816	0.00638	0.017	0.44240031913180755	0.03387	0.00284	0.01530	N	AEFDBI	0.054807	0.09996	N	-1.5917883983119	0.01306	0.05686907	-1.68956066485271	0.01184	0.05329264	2.77527207762171E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.14	-1.57	0.08055	-2.911000	0.00765	.	.	-4.062000	0.00044	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.404:0.3002:0.0:0.2958	2.076	0.03404	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	213.29	34	chr19	54804844	.	A	G	213.29	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.09;DP=565;ExcessHet=0.3476;FS=1.05;MLEAC=2;MLEAF=0.143;MQ=58.81;MQRankSum=-5.425;QD=0.51;ReadPosRankSum=0.433;SOR=1.036	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:32,6:38:99:0|1:54804844_A_G:156,0,1326:54804844	5	0	2	0
chr19	54804865	54804865	G	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.G149T:p.R50L,KIR2DL4:NM_001080772:exon3:c.G149T:p.R50L	.	399	1022	98	3	0	104	0.0484171	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.0010606096064	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs377230503	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.578e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.129	0.26852	T	0.099	0.43344	T	0.001	0.17573	B	0.009	0.25828	B	0.006549	0.01130	U	4.963860	1	0.08975	N	0.87	0.21467	L	2.62	0.12988	T	-3.67	0.70553	D	0.243	0.32259	-0.9992	0.30143	T	0.029	0.12453	T	10	0.2224595	0.38999	T	0.001061	0.01215	T	0.028	0.06331	.	.	0.110392049598	0.10638	0.28005680441547837	0.27918	1.86795582778	0.92482	.	.	.	.	.	.	-0.326378	0.06390	T	-0.706596	0.05473	T	0.0639145414373501	0.07769	T	.	.	.	.	.	.	.	.	.	.	.	-8.044	0.61370	D	.	.	0.138	0.32756	B	.;.;.;.	.;.;.;.	0.035535	0.04534	1.227	0.73877348709050461	0.10488	0.00388	0.01954	N	AEFDBI	0.065265	0.12721	N	-1.54790257383302	0.01547	0.06756762	-1.67935926748713	0.01231	0.05548239	8.43516041031511E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.41	-2.81	0.05459	-0.685000	0.05269	.	.	-3.641000	0.00069	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.6012:0.0:0.3988:0.0	5.745	0.17382	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	218.25	139	chr19	54804865	.	G	T	218.25	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.71;DP=717;ExcessHet=0.3476;FS=5.594;MLEAC=2;MLEAF=0.143;MQ=58.89;MQRankSum=-10.93;QD=0.47;ReadPosRankSum=1.2;SOR=1.349	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:37,7:44:99:0|1:54804844_A_G:183,0,1533:54804844	5	0	2	0
chr19	54804871	54804871	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A155G:p.H52R,KIR2DL4:NM_001080772:exon3:c.A155G:p.H52R	.	410	1016	93	3	0	99	0.0464571	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	0.000703869014878	.	.	.	.	.	.	.	.	.	.	.	.	.	rs752329065	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.314e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.992	0.03949	T	0.621	0.07419	T	0.003	0.12996	B	0.005	0.11217	B	.	.	.	.	1	0.08975	N	0.17	0.09006	N	2.75	0.11622	T	-3.37	0.67477	D	0.076	0.06059	-0.9219	0.45293	T	0.011	0.04321	T	9	0.061050594	0.07594	T	7.04E-4	0.00435	T	0.050	0.13987	.	.	0.305252298933	0.30134	0.14574877287000448	0.14497	1.80914359211	0.91782	.	.	.	.	.	.	-0.282495	0.10405	T	-0.643561	0.09412	T	0.0325404564850766	0.02395	T	.	.	.	.	.	.	.	.	.	.	.	-6.886	0.53196	T	.	.	0.100	0.18746	B	.;.;.;.	.;.;.;.	0.039253	0.04558	1.245	0.55635480641941515	0.05383	0.00516	0.02410	N	AEFDBI	0.041908	0.06434	N	-1.27066159650474	0.04033	0.1813008	-1.2984096394167	0.04452	0.2100502	3.65028250344946E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	1.42	0.21524	-0.504000	0.06456	.	.	-0.282000	0.06404	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	1.0:0.0:0.0:0.0	4.935	0.13288	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	172.75	138	chr19	54804871	.	A	G	172.75	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.52;DP=733;ExcessHet=0;FS=3.707;MLEAC=1;MLEAF=0.071;MQ=58.81;MQRankSum=-5.949;QD=3.93;ReadPosRankSum=2.29;SOR=1.282	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:37,7:44:99:0|1:54804844_A_G:183,0,1533:54804844	6	0	1	0
chr19	54804874	54804874	A	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A158C:p.Y53S,KIR2DL4:NM_001080772:exon3:c.A158C:p.Y53S	.	418	512	448	92	52	684	0.381643	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.00123731148339	.	.	.	.	.	.	.	.	.	.	.	.	.	rs618835	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.03314	T	0.009	0.15093	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	-2.005	0.00192	N	2.81	0.10975	T	-0.12	0.17003	N	0.094	0.07398	-0.9592	0.39330	T	0.005	0.01688	T	9	0.038850784	0.02333	T	0.001237	0.01658	T	0.064	0.18567	.	.	0.0934897674506	0.08844	0.30959537037651635	0.30872	2.03392677507	0.94150	.	.	.	.	.	.	-0.349958	0.04730	T	-0.740467	0.03871	T	0.0372104795728204	0.03193	T	.	.	.	.	.	.	.	.	.	.	.	-4.582	0.31945	T	.	.	0.096	0.15385	B	.;.;.;.	.;.;.;.	-1.038539	0.00718	0.021	0.36897408776256096	0.02400	0.00044	0.00357	N	AEFDBI	0.024914	0.01621	N	-2.04652454016145	0.00168	0.00718835	-2.03550390589525	0.00257	0.01134907	6.47260531587824E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-1.100000	0.03450	.	.	-3.205000	0.00110	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2532:0.5344:0.2124:0.0	4.673	0.12084	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	16896.7	143	chr19	54804874	.	A	C	16896.7	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.6;DP=1280;ExcessHet=3.6764;FS=0.528;MLEAC=1;MLEAF=0.071;MQ=59.46;MQRankSum=0;QD=13.83;ReadPosRankSum=0.905;SOR=0.765	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:38,7:45:99:0|1:54804844_A_G:180,0,1575:54804844	6	0	1	0
chr19	54804880	54804880	G	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.G164T:p.R55L,KIR2DL4:NM_001080772:exon3:c.G164T:p.R55L	.	409	1018	92	3	0	98	0.0459231	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.000590234751616	.	.	.	.	.	.	.	.	.	.	.	.	.	rs200970576	6.845e-07	2.052e-06	1.362e-06	0	8.995e-07	0	0	.	.	0	0	0	0	0	0	8.995e-07	0	0	0	1.971e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.707	0.14075	T	0.0	0.02946	B	0.003	0.08700	B	0.330964	0.04130	N	1.871750	1	0.08975	N	-0.59	0.02258	N	2.55	0.13795	T	-5.64	0.86914	D	0.096	0.07673	-0.9120	0.46607	T	0.001	0.00408	T	10	0.036497056	0.01952	T	5.9E-4	0.00260	T	0.011	0.01250	.	.	0.043077524339	0.03247	0.18736213989536712	0.18654	1.8200784132	0.91936	.	.	.	.	.	.	-0.317922	0.07070	T	-0.69445	0.06134	T	0.176434934139252	0.19007	T	.	.	.	.	.	.	.	.	.	.	.	-3.794	0.20715	T	.	.	0.105	0.22391	B	.;.;.;.	.;.;.;.	-2.096588	0.00081	0.001	0.52377389892480175	0.04736	0.00034	0.00302	N	AEFDBI	0.026426	0.01982	N	-2.4206702032517	0.00024	0.001049992	-2.48006166947468	0.00026	0.001135847	0.181087630750471	0.17872	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-4.363000	0.00281	.	.	-4.734000	0.00021	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3206:0.1414:0.3286:0.2094	0.680	0.00818	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	169.44	141	chr19	54804880	.	G	T	169.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.12;DP=942;ExcessHet=0;FS=4.057;MLEAC=1;MLEAF=0.071;MQ=57.57;MQRankSum=-6.021;QD=3.77;ReadPosRankSum=0.971;SOR=1.863	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:38,7:45:99:0|1:54804844_A_G:180,0,1575:54804844	6	0	1	0
chr19	54804889	54804889	A	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A173C:p.N58T,KIR2DL4:NM_001080772:exon3:c.A173C:p.N58T	.	410	1009	100	3	0	106	0.0499058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	0.00160012747995	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1252008475	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.972e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.28	0.17643	T	0.421	0.18395	T	0.0	0.02946	B	0.004	0.10090	B	0.568075	0.11267	U	0.710467	1	0.08975	N	1.085	0.27262	L	2.81	0.10975	T	-1.31	0.33798	N	0.161	0.16864	-0.9669	0.37834	T	0.015	0.06090	T	10	0.07299557	0.10970	T	0.002	0.02574	T	0.083	0.24192	.	.	0.168254554758	0.16434	0.1070846243563384	0.10638	1.5630790888	0.88064	.	.	.	.	.	.	-0.408466	0.02035	T	-0.824509	0.01363	T	0.146632224321365	0.16832	T	.	.	.	.	.	.	.	.	.	.	.	-6.799	0.52552	T	.	.	0.159	0.35849	B	.;.;.;.	.;.;.;.	-0.436821	0.02079	0.193	0.48969850087904854	0.04130	0.00254	0.01397	N	AEFDBI	0.042854	0.06702	N	-1.61109278381861	0.01210	0.05261721	-1.73396012362405	0.00995	0.04459112	9.2797908283636E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-1.660000	0.02075	.	.	-3.494000	0.00081	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3389:0.242:0.1805:0.2386	0.111	0.00052	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	166.45	155	chr19	54804889	.	A	C	166.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.027;DP=980;ExcessHet=0;FS=4.095;MLEAC=1;MLEAF=0.071;MQ=58.9;MQRankSum=-11.65;QD=3.62;ReadPosRankSum=1.34;SOR=1.553	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:39,7:46:99:0|1:54804844_A_G:177,0,1617:54804844	6	0	1	0
chr19	54804898	54804898	C	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.C182G:p.T61R,KIR2DL4:NM_001080772:exon3:c.C182G:p.T61R	.	407	1007	105	3	0	111	0.0522353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.000577800184532	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1347429978	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.973e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.156	0.30235	T	0.417	0.14241	T	0.008	0.14655	B	0.014	0.16862	B	0.370126	0.04357	N	1.761550	1	0.08975	N	0.19	0.09125	N	2.61	0.13095	T	-0.99	0.33798	N	0.166	0.17553	-1.0466	0.15361	T	0.034	0.14726	T	10	0.06646973	0.09122	T	5.78E-4	0.00246	T	0.004	0.00165	.	.	0.123314135267	0.11883	0.2663305671272793	0.26546	1.74321032565	0.90897	.	.	.	.	.	.	-0.374164	0.03389	T	-0.775237	0.02600	T	0.172755304063972	0.18765	T	.	.	.	.	.	.	.	.	.	.	.	-4.633	0.32583	T	.	.	0.133	0.28807	B	.;.;.;.	.;.;.;.	-1.551279	0.00265	0.004	0.59469541163751893	0.06232	0.00075	0.00520	N	AEFDBI	0.026301	0.01950	N	-1.68316153543223	0.00903	0.03908699	-1.84995237698743	0.00612	0.0271986	3.44450744240821E-4	0.06626	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-5.169000	0.00171	.	.	-4.106000	0.00042	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2563:0.3734:0.3703:0.0	4.699	0.12201	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	276.24	153	chr19	54804898	.	C	G	276.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.76;DP=993;ExcessHet=0.3476;FS=7.56;MLEAC=2;MLEAF=0.143;MQ=58.83;MQRankSum=-11.57;QD=0.54;ReadPosRankSum=1.42;SOR=1.548	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:42,8:50:99:0|1:54804844_A_G:209,0,1739:54804844	5	0	2	0
chr19	54804909	54804909	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A193G:p.K65E,KIR2DL4:NM_001080772:exon3:c.A193G:p.K65E	.	408	993	118	3	0	124	0.0587678	.	.	.	2687379	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.028	0.000710582739585	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1433721372	2.738e-06	4.105e-06	0	5.504e-06	2.237e-05	6.4e-07	4.3e-07	3e-07	1.1e-07	0	2.237e-05	3.843e-05	0	0	0	1.799e-06	0	0	1.988e-05	4.605e-05	1.295e-05	2.717e-05	0.0001	5.29e-06	2.47e-06	2.279e-05	9.14e-06	0	0	0.0001	0	0	0	0	0	0.0005	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	0.812499	0.09241	N	0.855387	1	0.08975	N	-2.415	0.00072	N	6.0	0.00603	T	1.89	0.00694	N	0.066	0.07262	-0.9319	0.43859	T	0.001	0.00188	T	10	0.020792723	0.00485	T	7.11E-4	0.00454	T	0.028	0.06331	.	.	0.102598925029	0.09809	0.08210962773506171	0.08145	2.0043789819	0.93871	.	.	.	.	.	.	-0.398459	0.02370	T	-0.810135	0.01662	T	0.0787104400289306	0.09821	T	.	.	.	.	.	.	.	.	.	.	.	1.118	0.00118	T	.	.	0.052	0.01449	B	.;.;.;.	.;.;.;.	-0.896903	0.00931	0.035	0.38092024155450582	0.02549	0.00009	0.00143	N	AEFBI	0.020365	0.00798	N	-1.95943119732616	0.00258	0.01107597	-1.91051840260318	0.00467	0.02066344	2.13546506143977E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	-1.41	0.08473	0.022000	0.13402	.	.	-1.236000	0.01320	0.005000	0.17040	0.000000	0.08366	0.000000	0.00833	0.4688:0.0:0.5312:0.0	3.979	0.08979	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.2143	530.72	150	chr19	54804909	.	A	G	530.72	.	AC=3;AF=0.214;AN=14;BaseQRankSum=1.23;DP=1002;ExcessHet=1.1394;FS=6.879;MLEAC=3;MLEAF=0.214;MQ=58.67;MQRankSum=-11.58;QD=0.79;ReadPosRankSum=0.273;SOR=1.603	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:45,9:54:99:0|1:54804844_A_G:242,0,1862:54804844	4	0	3	0
chr19	54804943	54804943	G	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.G227A:p.R76K,KIR2DL4:NM_001080772:exon3:c.G227A:p.R76K	.	415	972	132	3	0	138	0.0662824	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.000742101611331	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs1258790404	0	4.105e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	3.948e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.706	0.15201	T	0.895	0.03223	T	0.0	0.02946	B	0.001	0.08700	B	0.590161	0.05587	N	1.384300	1	0.08975	N	1.445	0.36358	L	2.74	0.11730	T	-0.98	0.27259	N	0.051	0.07535	-0.9692	0.37366	T	0.025	0.10733	T	10	0.066293925	0.09070	T	7.42E-4	0.00510	T	0.022	0.04323	.	.	0.143184338766	0.13958	0.10200965388074774	0.10131	1.54987763219	0.87883	.	.	.	.	.	.	-0.328421	0.06231	T	-0.70953	0.05319	T	0.0564412906346426	0.06597	T	.	.	.	.	.	.	.	.	.	.	.	-7.075	0.54580	T	.	.	0.117	0.27968	B	.;.;.;.	.;.;.;.	-0.709399	0.01299	0.070	0.67373079492482224	0.08335	0.00141	0.00861	N	AEFBI	0.044050	0.07041	N	-1.32507690532281	0.03391	0.1513701	-1.48749976679391	0.02446	0.1125302	6.30285219020309E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-1.506000	0.02375	.	.	-0.368000	0.05462	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1859:0.238:0.3354:0.2407	0.540	0.00600	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2143	1497.72	163	chr19	54804943	.	G	A	1497.72	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-0.1;DP=1029;ExcessHet=1.1394;FS=7.39;MLEAC=3;MLEAF=0.214;MQ=58.37;MQRankSum=-12.34;QD=2.2;ReadPosRankSum=-2.799;SOR=1.363	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:50,12:62:99:0|1:54804844_A_G:353,0,2063:54804844	4	0	3	0
chr19	54804956	54804956	C	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.C240G:p.N80K,KIR2DL4:NM_001080772:exon3:c.C240G:p.N80K	.	414	957	149	2	0	153	0.0740203	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.000820155030123	.	.	3.423e-05	0.0003	0	0	0	0	0	0	.	.	.	rs762567496	6.845e-07	4.789e-06	1.362e-06	0	2.995e-05	0	0	.	.	2.995e-05	0	0	0	0	0	0	0	0	1.99e-05	0.0001	2.59e-05	1.36e-05	7.371e-05	5.29e-06	2.47e-06	1.954e-05	1.042e-05	7.371e-05	0	0	0	0	0	0	0	0	0	0.412	0.13699	T	0.845	0.05146	T	0.001	0.07471	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	-0.44	0.02835	N	5.79	0.00674	T	-1.03	0.27052	N	0.095	0.07535	-0.9430	0.42137	T	0.002	0.00556	T	9	0.044601202	0.03435	T	8.2E-4	0.00670	T	0.003	0.00094	.	.	0.128874641272	0.12493	0.10159306631719821	0.10090	1.72089044569	0.90581	.	.	.	.	.	.	-0.575811	0.00204	T	-0.864535	0.00796	T	0.016738042965368	0.00430	T	.	.	.	.	.	.	.	.	.	.	.	-3.17	0.12117	T	.	.	0.179	0.45895	B	.;.;.;.	.;.;.;.	-1.083170	0.00661	0.018	0.50719520210572711	0.04434	0.00148	0.00897	N	AEFBI	0.040604	0.06062	N	-1.66740233317036	0.00964	0.04176982	-1.76943638965084	0.00862	0.03853214	7.24329605389925E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-3.415000	0.00532	.	.	-3.993000	0.00048	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2368:0.2927:0.4706:0.0	4.378	0.10712	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2143	1753.72	167	chr19	54804956	.	C	G	1753.72	.	AC=3;AF=0.214;AN=14;BaseQRankSum=0.933;DP=1017;ExcessHet=1.1394;FS=5.393;MLEAC=3;MLEAF=0.214;MQ=58.43;MQRankSum=-12.49;QD=2.59;ReadPosRankSum=-1.75;SOR=1.116	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:49,14:63:99:0|1:54804844_A_G:440,0,2015:54804844	4	0	3	0
chr19	54804960	54804960	T	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.T244A:p.F82I,KIR2DL4:NM_001080772:exon3:c.T244A:p.F82I	.	414	959	147	2	0	151	0.0729821	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	0.00121079333076	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1369685826	0	4.105e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.131	0.27663	T	0.066	0.49942	T	0.835	0.57185	P	0.439	0.51840	B	.	.	.	.	1	0.08975	N	2.84	0.82582	M	5.26	0.01121	T	-4.07	0.74661	D	0.527	0.55626	-1.0358	0.18606	T	0.009	0.03140	T	9	0.26590294	0.44090	T	0.001211	0.01583	T	0.125	0.34456	.	.	0.184605227958	0.18053	0.26410585650973184	0.26323	2.55136621799	0.97893	.	.	.	.	.	.	-0.229695	0.16690	T	-0.567717	0.15659	T	0.301442474126816	0.25063	T	.	.	.	.	.	.	.	.	.	.	.	-10.577	0.77288	D	.	.	0.167	0.46813	B	.;.;.;.	.;.;.;.	1.636286	0.20887	14.96	0.92714287306157606	0.22209	0.01840	0.05702	N	AEFBI	0.038078	0.05336	N	-0.973329979841069	0.09176	0.4332079	-1.27610017222819	0.04756	0.2250723	8.7197982285104E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	0.236000	0.17745	.	.	-1.223000	0.01335	0.008000	0.17931	0.000000	0.08366	0.000000	0.00833	0.2444:0.1891:0.2473:0.3192	0.084	0.00031	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2143	1793.72	167	chr19	54804960	.	T	A	1793.72	.	AC=3;AF=0.214;AN=14;BaseQRankSum=0.171;DP=1019;ExcessHet=1.1394;FS=7.022;MLEAC=3;MLEAF=0.214;MQ=58.48;MQRankSum=-12.49;QD=2.62;ReadPosRankSum=-1.259;SOR=1.216	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:51,14:65:99:0|1:54804844_A_G:434,0,2099:54804844	4	0	3	0
chr19	54804968	54804968	T	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.T252G:p.I84M,KIR2DL4:NM_001080772:exon3:c.T252G:p.I84M	.	417	956	147	2	0	151	0.0731944	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.000519273134144	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1325992067	0	4.105e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.437	0.14400	T	0.374	0.18395	T	0.42	0.35330	B	0.45	0.46092	P	.	.	.	.	1	0.08975	N	-0.585	0.02270	N	5.18	0.01178	T	1.07	0.01509	N	0.251	0.28381	-0.9332	0.43665	T	0.004	0.01435	T	9	0.07691896	0.12074	T	5.19E-4	0.00174	T	0.045	0.12272	.	.	0.117191471859	0.11215	0.08007400719172995	0.07942	1.80411115478	0.91699	.	.	.	.	.	.	-0.337573	0.05559	T	-0.722677	0.04667	T	0.127119965554841	0.15113	T	.	.	.	.	.	.	.	.	.	.	.	-6.241	0.49275	T	.	.	0.117	0.24666	B	.;.;.;.	.;.;.;.	-0.141825	0.03399	0.614	0.65607078407769726	0.07820	0.00065	0.00468	N	AEFBI	0.020411	0.00803	N	-1.5866963148947	0.01332	0.0580352	-1.74726134577514	0.00943	0.042239	1.02835550443145E-4	0.05123	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-1.147000	0.03298	.	.	-3.828000	0.00057	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.1793:0.4034:0.4173	4.771	0.12528	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2143	1911.72	164	chr19	54804968	.	T	G	1911.72	.	AC=3;AF=0.214;AN=14;BaseQRankSum=1.47;DP=1029;ExcessHet=1.1394;FS=4.031;MLEAC=3;MLEAF=0.214;MQ=58.49;MQRankSum=-12.39;QD=2.77;ReadPosRankSum=-0.833;SOR=1.194	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:57,14:71:99:0|1:54804844_A_G:416,0,2311:54804844	4	0	3	0
chr19	54804969	54804969	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A253G:p.S85G,KIR2DL4:NM_001080772:exon3:c.A253G:p.S85G	.	417	954	149	2	0	153	0.0742358	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.000781134784742	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1442335978	0	4.105e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.003	0.11197	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	-1.715	0.00343	N	2.6	0.13204	T	2.66	0.00310	N	0.108	0.09349	-0.9842	0.34022	T	0.007	0.02439	T	9	0.02619794	0.00792	T	7.81E-4	0.00588	T	0.027	0.05988	.	.	0.158540857583	0.15491	0.07738362904380575	0.07674	1.4201359302	0.85604	.	.	.	.	.	.	-0.401399	0.02267	T	-0.814358	0.01570	T	0.0549007298840621	0.06341	T	.	.	.	.	.	.	.	.	.	.	.	0.541	0.00210	T	.	.	0.074	0.05274	B	.;.;.;.	.;.;.;.	-0.420405	0.02138	0.205	0.22000706786361646	0.00865	0.00040	0.00335	N	AEFBI	0.020537	0.00821	N	-2.07894454137503	0.00142	0.006092453	-2.08140116520627	0.00204	0.009005726	2.05305321022085E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-0.375000	0.07532	.	.	-1.077000	0.01579	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4285:0.0:0.5715:0.0	7.112	0.24570	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2143	1872.72	163	chr19	54804969	.	A	G	1872.72	.	AC=3;AF=0.214;AN=14;BaseQRankSum=0.657;DP=1028;ExcessHet=1.1394;FS=5.526;MLEAC=3;MLEAF=0.214;MQ=58.49;MQRankSum=-12.35;QD=2.72;ReadPosRankSum=-0.392;SOR=1.236	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:59,14:73:99:0|1:54804844_A_G:410,0,2354:54804844	4	0	3	0
chr19	54805015	54805015	T	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.T299C:p.F100S,KIR2DL4:NM_001080772:exon3:c.T299C:p.F100S	.	419	776	326	1	0	328	0.174468	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.0010106159629	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796753843	2.74e-06	0.0001	2.726e-06	2.755e-06	2.7e-06	6.4e-07	4.3e-07	7.2e-07	2e-07	0	0	0	0	1.885e-05	0	2.7e-06	0	0	5.341e-05	0.0027	7.827e-05	2.735e-05	0.0002	2.593e-05	1.856e-05	1.985e-05	1.133e-05	4.936e-05	0	6.628e-05	0	0	0	0	5.938e-05	0	0.0002	1.0	0.00964	T	0.435	0.14369	T	0.007	0.14184	B	0.008	0.13708	B	.	.	.	.	1	0.08975	N	-1.315	0.00701	N	5.92	0.00621	T	2.62	0.00266	N	0.075	0.04913	-0.9650	0.38210	T	0.001	0.00287	T	9	0.026813924	0.00840	T	0.001011	0.01096	T	0.013	0.01715	.	.	0.043077524339	0.03247	0.08146711258010714	0.08081	2.36001356848	0.96855	.	.	.	.	.	.	-0.43666	0.01353	T	-0.865008	0.00791	T	0.061946985667245	0.07471	T	.	.	.	.	.	.	.	.	.	.	.	1.914	0.00057	T	.	.	0.189	0.46085	B	.;.;.;.	.;.;.;.	-1.096354	0.00644	0.018	0.28837687520548816	0.01500	0.00083	0.00561	N	AEFDBI	0.025271	0.01704	N	-2.14306535979238	0.00103	0.00439903	-2.15844511365444	0.00139	0.006093682	1.25218217171751E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-6.340000	0.00086	.	.	-1.208000	0.01354	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.5038:0.0:0.4962	6.440	0.21047	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2143	3107.72	175	chr19	54805015	.	T	C	3107.72	.	AC=3;AF=0.214;AN=14;BaseQRankSum=1.2;DP=1077;ExcessHet=1.1394;FS=3.621;MLEAC=3;MLEAF=0.214;MQ=58.82;MQRankSum=-9.989;QD=4.19;ReadPosRankSum=1.5;SOR=1.063	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:60,22:82:99:0|1:54805010_A_G:743,0,2450:54805010	4	0	3	0
chr19	54805016	54805016	T	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.T300A:p.F100L,KIR2DL4:NM_001080772:exon3:c.T300A:p.F100L	.	420	774	327	1	0	329	0.17528	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.000772524294317	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796792356	1.37e-06	0.0001	0	2.755e-06	8.999e-07	2.3e-07	9e-08	.	.	0	0	0	0	1.887e-05	0	8.999e-07	0	0	5.338e-05	0.0027	7.825e-05	2.733e-05	0.0002	2.592e-05	1.855e-05	1.985e-05	1.133e-05	4.936e-05	0	6.625e-05	0	0	0	0	5.936e-05	0	0.0002	0.022	0.48642	D	0.648	0.06903	T	0.397	0.34783	B	0.333	0.42166	B	.	.	.	.	1	0.08975	N	1.665	0.42610	L	5.83	0.00652	T	-1.05	0.29933	N	0.118	0.11769	-0.9697	0.37262	T	0.003	0.01059	T	9	0.07033512	0.10217	T	7.73E-4	0.00568	T	0.023	0.04649	.	.	0.043077524339	0.03247	0.06693528354683899	0.06631	1.94744629028	0.93356	.	.	.	.	.	.	-0.343146	0.05173	T	-0.730682	0.04297	T	0.170065227283001	0.18584	T	.	.	.	.	.	.	.	.	.	.	.	-3.333	0.14166	T	.	.	0.864	0.81864	P	.;.;.;.	.;.;.;.	0.844460	0.12165	8.711	0.72763699724305153	0.10087	0.00466	0.02241	N	AEFDBI	0.041762	0.06392	N	-1.34932054137565	0.03132	0.1394129	-1.54047774464294	0.02042	0.09334472	7.01667449997308E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-2.7	0.05651	-1.755000	0.01913	.	.	-1.223000	0.01335	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.256:0.3803:0.0:0.3637	2.255	0.03803	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2143	3263.72	176	chr19	54805016	.	T	A	3263.72	.	AC=3;AF=0.214;AN=14;BaseQRankSum=0.338;DP=1085;ExcessHet=1.1394;FS=4.756;MLEAC=3;MLEAF=0.214;MQ=58.82;MQRankSum=-10.02;QD=4.36;ReadPosRankSum=1.41;SOR=1.044	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:61,22:83:99:0|1:54805010_A_G:740,0,2492:54805010	4	0	3	0
chr19	54805024	54805024	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A308G:p.H103R,KIR2DL4:NM_001080772:exon3:c.A308G:p.H103R	.	423	744	354	1	0	356	0.193059	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.00119188927627	.	.	.	.	.	.	.	.	.	.	0.0004226	11	26028	rs796878779	3.426e-06	0.0002	4.09e-06	2.756e-06	1.8e-06	1e-06	7.3e-07	3e-07	1.1e-07	0	0	0	0	5.683e-05	0	1.8e-06	0	0	4.7e-05	0.0029	5.246e-05	4.127e-05	0.0002	2.151e-05	1.554e-05	1.981e-05	1.049e-05	7.471e-05	0	6.676e-05	0	0	0	0	2.979e-05	0	0.0002	0.057	0.37966	T	0.101	0.38596	T	0.009	0.15093	B	0.006	0.12133	B	0.900041	0.07350	U	1.083630	1	0.08975	N	1.245	0.31408	L	5.78	0.00681	T	-5.95	0.89152	D	0.045	0.09066	-0.9256	0.44772	T	0.003	0.00994	T	10	0.102012426	0.18672	T	0.001192	0.01533	T	0.022	0.04323	.	.	0.143184338766	0.13958	0.03833865634309133	0.03779	1.81219128519	0.91816	.	.	.	.	.	.	-0.350096	0.04721	T	-0.740665	0.03863	T	0.0647783944973474	0.07899	T	.	.	.	.	.	.	.	.	.	.	.	-4.915	0.35903	T	.	.	0.097	0.17060	B	.;.;.;.	.;.;.;.	-0.151121	0.03348	0.592	0.69629908088386028	0.09034	0.00308	0.01632	N	AEFDBI	0.034642	0.04326	N	-1.13086835408799	0.06101	0.2799287	-1.26988241760385	0.04843	0.2294386	2.01186922009763E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-0.942	0.09869	-3.960000	0.00366	.	.	0.517000	0.23534	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.5371:0.0:0.4629:0.0	4.279	0.10270	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2143	3975.72	181	chr19	54805024	.	A	G	3975.72	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-0.157;DP=1098;ExcessHet=1.1394;FS=4.473;MLEAC=3;MLEAF=0.214;MQ=58.78;MQRankSum=-9.402;QD=5.22;ReadPosRankSum=0.392;SOR=0.978	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:60,25:85:99:0|1:54805010_A_G:863,0,2444:54805010	4	0	3	0
chr19	54805033	54805033	C	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.C317T:p.T106I,KIR2DL4:NM_001080772:exon3:c.C317T:p.T106I	.	424	690	407	1	0	409	0.228619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.000700822115211	.	.	.	.	.	.	.	.	.	.	0.0009605	25	26028	rs796513163	7.541e-06	0.0002	2.728e-06	1.241e-05	2.239e-05	4.05e-06	2.96e-06	8.4e-07	5.7e-07	0	2.239e-05	3.862e-05	0	7.619e-05	0	3.601e-06	0	1.166e-05	3.338e-05	0.0029	5.221e-05	1.366e-05	0.0006	1.276e-05	8.09e-06	0.0002	9.396e-05	2.468e-05	0	0	0	0	0	0	1.485e-05	0	0.0006	0.142	0.25768	T	0.321	0.19073	T	0.003	0.11197	B	0.004	0.10090	B	0.591279	0.05593	U	1.381260	1	0.08975	N	2	0.54354	M	2.55	0.13795	T	-2.95	0.63901	D	0.118	0.10769	-0.9874	0.33249	T	0.033	0.14334	T	10	0.060203582	0.07359	T	7.01E-4	0.00435	T	0.024	0.04979	.	.	0.0675242888579	0.06100	0.04331565967951002	0.04276	1.63047291344	0.89215	.	.	.	.	.	.	-0.366031	0.03800	T	-0.763555	0.02987	T	0.0524682142329862	0.05929	T	.	.	.	.	.	.	.	.	.	.	.	-9.207	0.69223	D	.	.	0.216	0.46273	B	.;.;.;.	.;.;.;.	0.032458	0.04511	1.213	0.83014543442455713	0.14496	0.00242	0.01343	N	AEFDBI	0.041998	0.06460	N	-1.24619832928253	0.04350	0.1961546	-1.41778311686848	0.03074	0.1426955	1.1506097044956E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.14	-2.28	0.06438	-1.970000	0.01595	.	.	-0.553000	0.04888	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.6794:0.3206:0.0:0.0	6.335	0.20497	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2857	4725.13	187	chr19	54805033	.	C	T	4725.13	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-0.254;DP=1154;ExcessHet=2.5225;FS=7.23;MLEAC=4;MLEAF=0.286;MQ=58.84;MQRankSum=-8.47;QD=4.5;ReadPosRankSum=-1.261;SOR=0.958	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:58,26:84:99:0|1:54805010_A_G:904,0,2357:54805010	3	0	4	0
chr19	54805068	54805068	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A352G:p.M118V,KIR2DL4:NM_001080772:exon3:c.A352G:p.M118V	.	425	605	491	1	0	493	0.289489	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.000896150500463	.	.	.	.	.	.	.	.	.	.	0.0012679	33	26028	rs377158496	7.372e-05	0.0003	4.11e-05	0.0001	0.0004	6.225e-05	5.782e-05	6.542e-05	6.1e-05	0	0	3.935e-05	7.58e-05	0.0001	0.0004	7.939e-05	8.332e-05	3.521e-05	1.994e-05	0.0009	1.3e-05	2.72e-05	0.0004	5.3e-06	2.47e-06	7.542e-05	3.122e-05	0	0	0	0	0	9.517e-05	0	0	0	0.0004	1.0	0.00964	T	1.0	0.01155	T	0.009	0.15093	B	0.004	0.10090	B	0.167963	0.03088	N	2.088310	1	0.08975	N	-0.475	0.02701	N	2.74	0.11730	T	0.19	0.06868	N	0.074	0.06587	-1.0167	0.24787	T	0.015	0.06282	T	10	0.027635008	0.00906	T	8.96E-4	0.00822	T	0.014	0.01968	.	.	0.143184338766	0.13958	0.03977817011760987	0.03923	1.56059685374	0.88033	.	.	.	.	.	.	-0.414852	0.01846	T	-0.833683	0.01198	T	0.0837077051401138	0.10455	T	.	.	.	.	.	.	.	.	.	.	.	-1.865	0.02998	T	.	.	0.077	0.08899	B	.;.;.;.	.;.;.;.	-0.512683	0.01826	0.145	0.81087781055770536	0.13513	0.00133	0.00820	N	AEFDBI	0.025271	0.01704	N	-1.41486537055219	0.02508	0.1108357	-1.45837055724275	0.02695	0.1244398	1.6772618897357E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.14	-0.275	0.12268	-1.056000	0.03600	.	.	-1.196000	0.01368	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.6062:0.0:0.3938:0.0	3.173	0.06167	976	0.04745	Immunoglobulin subtype;Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2857	5827.13	183	chr19	54805068	.	A	G	5827.13	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-0.424;DP=1107;ExcessHet=2.5225;FS=6.181;MLEAC=4;MLEAF=0.286;MQ=58.6;MQRankSum=-7.554;QD=5.86;ReadPosRankSum=-0.356;SOR=0.803	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:45,37:82:99:0|1:54805068_A_G:1365,0,1744:54805068	3	0	4	0
chr19	54805957	54805957	A	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A368T:p.Y123F,KIR2DL4:NM_001080772:exon4:c.A368T:p.Y123F	.	425	734	362	1	0	364	0.19869	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.000412457697702	.	.	.	.	.	.	.	.	.	.	0.0008452	22	26028	rs548305067	6.874e-07	4.789e-06	0	1.382e-06	9.011e-07	0	0	.	.	0	0	0	0	0	0	9.011e-07	0	0	0	2.635e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.083	0.33091	T	0.185	0.45744	T	0.029	0.25941	B	0.11	0.35187	B	.	.	.	.	1	0.08975	N	1.79	0.46772	L	5.76	0.00695	T	-2.94	0.62863	D	0.143	0.19055	-0.9456	0.41715	T	0.005	0.01651	T	9	0.09953773	0.18069	T	4.12E-4	0.00078	T	0.026	0.05648	.	.	0.0934897674506	0.08844	0.027781850178691565	0.02728	1.64456428975	0.89413	.	.	.	.	.	.	-0.296197	0.09024	T	-0.663243	0.08049	T	0.040030807459604	0.03696	T	.	.	.	.	.	.	.	.	.	.	.	-6.322	0.59734	T	.	.	0.166	0.39731	B	.;.;.;.;.;.	.;.;.;.;.;.	1.365047	0.17746	13.34	0.8690361499563457	0.16852	0.00313	0.01653	N	AEFDBI	0.037221	0.05085	N	-0.949558894302633	0.09702	0.4603585	-1.11896342680627	0.07338	0.3565461	1.17956831403963E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-0.172	0.12673	-0.279000	0.08512	.	.	-0.540000	0.04934	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5945:0.4055:0.0:0.0	3.728	0.08011	976	0.04745	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3571	4352.11	174	chr19	54805957	.	A	T	4352.11	.	AC=5;AF=0.357;AN=14;BaseQRankSum=3.43;DP=1267;ExcessHet=4.7409;FS=7.958;MLEAC=5;MLEAF=0.357;MQ=57.01;MQRankSum=-13.09;QD=4.16;ReadPosRankSum=0.61;SOR=1.411	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:54,29:83:99:0|1:54805940_TCTC_T:1055,0,2180:54805940	2	0	5	0
chr19	54805960	54805960	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A371G:p.E124G,KIR2DL4:NM_001080772:exon4:c.A371G:p.E124G	.	423	736	362	1	0	364	0.198257	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.000765021981206	.	.	.	.	.	.	.	.	.	.	0.0007684	20	26028	rs796298317	6.871e-07	4.789e-06	0	1.381e-06	9.009e-07	0	0	.	.	0	0	0	0	0	0	9.009e-07	0	0	0	2.634e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.122	0.27663	T	0.119	0.39190	T	0.007	0.14184	B	0.002	0.12133	B	.	.	.	.	1	0.08975	N	-0.045	0.04980	N	2.62	0.12988	T	-3.74	0.71042	D	0.211	0.23506	-0.9370	0.43088	T	0.002	0.00676	T	9	0.05600232	0.06209	T	7.65E-4	0.00549	T	0.010	0.01040	.	.	0.043077524339	0.03247	0.06409426405292065	0.06348	1.75526258725	0.91031	.	.	.	.	.	.	-0.331698	0.05984	T	-0.714237	0.05079	T	0.0368346457453638	0.03126	T	.	.	.	.	.	.	.	.	.	.	.	-2.952	0.34463	T	.	.	0.072	0.17103	B	.;.;.;.;.;.	.;.;.;.;.;.	0.634502	0.10029	6.781	0.88093227450565881	0.17711	0.00125	0.00780	N	AEFDBI	0.028794	0.02603	N	-1.26647521352365	0.04087	0.1837661	-1.38178856189957	0.03446	0.1607592	2.06444612407306E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-1.55	0.08105	-0.492000	0.06547	.	.	-1.507000	0.01020	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5179:0.0:0.4821:0.0	4.324	0.10473	976	0.04745	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3571	4916.11	184	chr19	54805960	.	A	G	4916.11	.	AC=5;AF=0.357;AN=14;BaseQRankSum=3.06;DP=1304;ExcessHet=4.7409;FS=6.296;MLEAC=5;MLEAF=0.357;MQ=56.94;MQRankSum=-13.44;QD=4.54;ReadPosRankSum=0.472;SOR=1.333	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:56,33:89:99:0|1:54805940_TCTC_T:1217,0,2252:54805940	2	0	5	0
chr19	54805974	54805974	A	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A385T:p.T129S,KIR2DL4:NM_001080772:exon4:c.A385T:p.T129S	.	422	677	422	1	0	424	0.23847	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.00369938800555	.	.	5.567e-05	0	0.0007	0	0	0	0	0	.	.	.	rs748394765	3.431e-06	1.3e-05	4.096e-06	2.759e-06	2.701e-06	1.01e-06	7.3e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.701e-06	3.326e-05	0	6.662e-06	6.588e-05	1.3e-05	0	6.616e-05	0	0	.	.	0	0	6.616e-05	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.07471	B	0.0	0.01387	B	0.001108	0.00740	N	7.200430	1	0.08975	N	-3.165	0.00009	N	2.73	0.11839	T	1.22	0.01712	N	0.056	0.03613	-0.8748	0.50166	T	0.006	0.01870	T	10	0.013647258	0.00289	T	0.003699	0.08558	T	0.102	0.29158	.	.	0.143184338766	0.13958	0.027044094549388754	0.02654	1.39109223815	0.85005	.	.	.	.	.	.	-0.462046	0.00955	T	-0.901474	0.00492	T	0.0748926305845455	0.09321	T	.	.	.	.	.	.	.	.	.	.	.	-0.763	0.00889	T	.	.	0.064	0.05845	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.834838	0.01040	0.044	0.53029054606884674	0.04860	0.00012	0.00170	N	AEFDBI	0.015392	0.00291	N	-2.01882774161932	0.00193	0.008257516	-1.94356271259806	0.00400	0.01770385	1.17063954684405E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-0.0469	0.13174	0.292000	0.18766	.	.	-0.624000	0.04539	0.002000	0.15269	0.000000	0.08366	0.005000	0.06747	0.3872:0.0:0.0:0.6128	3.134	0.06046	976	0.04745	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3571	7636.11	202	chr19	54805974	.	A	T	7636.11	.	AC=5;AF=0.357;AN=14;BaseQRankSum=4.08;DP=1447;ExcessHet=4.7409;FS=4.344;MLEAC=5;MLEAF=0.357;MQ=56.86;MQRankSum=-13.23;QD=6.23;ReadPosRankSum=0.044;SOR=1.089	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:57,51:108:99:0|1:54805940_TCTC_T:1970,0,2240:54805940	2	0	5	0
chr19	54805981	54805981	G	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.G392A:p.R131Q,KIR2DL4:NM_001080772:exon4:c.G392A:p.R131Q	.	421	659	441	1	0	443	0.251562	.	.	.	3452252	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.013	0.000941604155589	.	.	0.0003	0	0.0013	0	0	0.0002	0	0.0016	0.001921	50	26028	rs202246882	5.279e-05	6.294e-05	3.955e-05	6.616e-05	0.0003	4.287e-05	3.961e-05	0.0002	0.0002	0	0.0001	0	7.564e-05	0	0.0002	3.51e-05	6.642e-05	0.0003	0.0001	0.0002	0.0001	0.0001	0.0008	8.284e-05	6.82e-05	0.0005	0.0004	7.44e-05	0	0.0008	0	0	0	0	2.956e-05	0	0.0004	1.0	0.00964	T	1.0	0.03910	T	0.0	0.13644	B	0.0	0.04355	B	0.464890	0.04891	N	1.542390	1	0.08975	N	-2.565	0.00047	N	2.75	0.11622	T	2.25	0.00472	N	0.04	0.03069	-0.9519	0.40643	T	0.004	0.01295	T	10	0.015721977	0.00330	T	9.42E-4	0.00934	T	0.013	0.01715	.	.	0.174091166621	0.17034	0.021095889007445256	0.02062	1.71924122415	0.90548	.	.	.	.	.	.	-0.714436	0.00030	T	-0.905433	0.00465	T	0.0501607574657884	0.05529	T	.	.	.	.	.	.	.	.	.	.	.	-0.217	0.00435	T	.	.	0.065	0.06341	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.525354	0.01788	0.138	0.73410874544489724	0.10318	0.00030	0.00276	N	AEFDBI	0.021298	0.00932	N	-2.17374974192811	0.00088	0.003751786	-2.12833273597635	0.00161	0.007103925	2.59535722897861E-5	0.03498	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-1.94	0.07158	-1.595000	0.02196	.	.	-0.581000	0.04707	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.4314:0.0:0.2508:0.3177	1.446	0.02221	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002345	0.000000	0.004167	0.011628	0.000000	0.000000	0.000000	0.004202	0.3571	9049.11	225	chr19	54805981	.	G	A	9049.11	.	AC=5;AF=0.357;AN=14;BaseQRankSum=3.89;DP=1535;ExcessHet=4.7409;FS=3.149;MLEAC=5;MLEAF=0.357;MQ=56.95;MQRankSum=-12.62;QD=6.89;ReadPosRankSum=0;SOR=0.996	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:63,59:122:99:0|1:54805940_TCTC_T:2257,0,2455:54805940	2	0	5	0
chr19	54806034	54806034	C	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.C445A:p.Q149K,KIR2DL4:NM_001080772:exon4:c.C445A:p.Q149K	.	416	603	500	3	0	506	0.295561	.	.	.	2327274	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.027	0.000600995199084	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796139593	2.054e-06	2.189e-05	2.725e-06	1.376e-06	2.699e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.699e-06	0	0	0	6.586e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.015	0.52492	D	0.466	0.21545	T	0.028	0.19712	B	0.019	0.26717	B	0.218530	0.03437	U	2.191760	1	0.08975	N	1.17	0.29769	L	2.69	0.12268	T	-0.65	0.22944	N	0.106	0.13484	-1.0136	0.25784	T	0.041	0.17446	T	10	0.07830647	0.12465	T	6.01E-4	0.00274	T	0.027	0.05988	.	.	0.15499578495	0.15088	0.030426962936334883	0.02991	1.86795582778	0.92482	.	.	.	.	.	.	-0.327326	0.06316	T	-0.707957	0.05402	T	0.07779072841769	0.09702	T	.	.	.	.	.	.	.	.	.	.	.	-3.072	0.14113	T	.	.	0.095	0.16143	B	.;.;.;.;.;.	.;.;.;.;.;.	-1.261443	0.00472	0.010	0.57104873323543892	0.05696	0.00143	0.00871	N	AEFDBI	0.036756	0.04948	N	-1.49293136850256	0.01900	0.08334951	-1.67917428157046	0.01232	0.05552245	1.96384650934533E-4	0.05898	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.04	-2.07	0.06873	-1.932000	0.01645	.	.	-5.196000	0.00013	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4754:0.2961:0.2285	4.213	0.09977	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3571	13581.1	274	chr19	54806034	.	C	A	13581.1	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-1.398;DP=2464;ExcessHet=4.7409;FS=0;MLEAC=5;MLEAF=0.357;MQ=56.72;MQRankSum=-13.3;QD=8.23;ReadPosRankSum=1.75;SOR=0.641	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:81,71:152:99:0|1:54806034_C_A:2737,0,3168:54806034	2	0	5	0
chr19	54806035	54806035	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A446G:p.Q149R,KIR2DL4:NM_001080772:exon4:c.A446G:p.Q149R	.	417	602	500	3	0	506	0.295906	.	.	.	2338656	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.005	0.000698231574451	.	.	0	0	0	0	0	0	0	0	.	.	.	rs746343340	2.328e-05	5.747e-05	1.226e-05	3.441e-05	0.0003	1.676e-05	1.479e-05	0.0003	0.0002	0	0	0	0	0	0	2.699e-06	1.658e-05	0.0003	1.998e-05	0.0002	0	4.097e-05	0.0006	5.31e-06	2.47e-06	0.0002	9.372e-05	0	0	0	0	0	0	0	0	0	0.0006	1.0	0.00964	T	0.716	0.08505	T	0.0	0.07471	B	0.002	0.19048	B	0.218530	0.03437	N	2.191760	1	0.08975	N	-0.41	0.02942	N	2.67	0.12473	T	0.01	0.11185	N	0.051	0.02861	-0.9819	0.34561	T	0.015	0.05849	T	10	0.022258013	0.00551	T	6.98E-4	0.00435	T	0.005	0.00259	.	.	0.20808081866	0.20439	0.018312308498273373	0.01785	1.62690945155	0.89163	.	.	.	.	.	.	-0.395299	0.02485	T	-0.805596	0.01766	T	0.0361073549231356	0.02999	T	.	.	.	.	.	.	.	.	.	.	.	-0.457	0.00626	T	.	.	0.059	0.01645	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.548845	0.01717	0.126	0.1435906815429033	0.00314	0.00175	0.01031	N	AEFDBI	0.030820	0.03175	N	-2.16967246651284	0.00090	0.003831711	-2.20712287736297	0.00108	0.004744652	1.07926449648836E-4	0.05123	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-1.76	0.07574	-0.066000	0.11556	.	.	-3.284000	0.00100	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.7891:0.0:0.2109:0.0	6.415	0.20912	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.3571	13566.1	276	chr19	54806035	.	A	G	13566.1	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-0.83;DP=2458;ExcessHet=4.7409;FS=0;MLEAC=5;MLEAF=0.357;MQ=56.71;MQRankSum=-13.36;QD=8.19;ReadPosRankSum=1.88;SOR=0.64	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:81,71:152:99:0|1:54806034_C_A:2737,0,3168:54806034	2	0	5	0
chr19	54806051	54806051	C	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.C462G:p.I154M,KIR2DL4:NM_001080772:exon4:c.C462G:p.I154M	.	413	617	488	4	0	496	0.286705	.	.	.	2309998	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.009	0.000542649328314	.	.	.	.	.	.	.	.	.	.	0.0009221	24	26028	rs112266387	6.846e-07	1.916e-05	1.362e-06	0	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	6.643e-06	3.949e-05	0	1.361e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	1.0	0.00964	T	0.265	0.28300	T	0.001	0.13644	B	0.005	0.26717	B	0.021564	0.01555	N	4.036070	1	0.08975	N	-1.185	0.00856	N	2.71	0.12055	T	0.58	0.03824	N	0.052	0.04913	-0.9508	0.40833	T	0.016	0.06329	T	10	0.01567614	0.00329	T	5.43E-4	0.00196	T	0.009	0.00846	.	.	0.158540857583	0.15491	0.022625134842526706	0.02214	1.56269628182	0.88057	.	.	.	.	.	.	-0.406495	0.02098	T	-0.821678	0.01419	T	0.0491104212058717	0.05343	T	.	.	.	.	.	.	.	.	.	.	.	-3.48	0.28982	T	.	.	0.069	0.06617	B	.;.;.;.;.;.	.;.;.;.;.;.	-1.681431	0.00202	0.003	0.30573155537778873	0.01679	0.00033	0.00296	N	AEFDBI	0.022408	0.01117	N	-2.59438172759116	0.00009	0.0004174465	-2.64788836212231	0.00010	0.0004634108	0.947304446228941	0.27746	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-2.09	0.06831	-1.305000	0.02846	.	.	-0.638000	0.04459	0.000000	0.06391	0.000000	0.08366	0.022000	0.11911	0.0:0.4374:0.2279:0.3346	4.6	0.11740	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.3571	12878.1	281	chr19	54806051	.	C	G	12878.1	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-1.294;DP=2491;ExcessHet=4.7409;FS=1.314;MLEAC=5;MLEAF=0.357;MQ=56.99;MQRankSum=-13.36;QD=7.59;ReadPosRankSum=2.95;SOR=0.608	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:85,73:158:99:0|1:54806034_C_A:2809,0,3349:54806034	2	0	5	0
chr19	54806073	54806074	GA	-	exonic	KIR2DL4;LOC112268354	.	frameshift deletion	KIR2DL4:NM_001080770:exon4:c.484_485del:p.E162Sfs*3,KIR2DL4:NM_001080772:exon4:c.484_485del:p.E162Sfs*3	.	409	636	474	3	0	480	0.273973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.258e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	2.63e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	11995.1	283	chr19	54806072	.	GGA	G	11995.1	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-0.041;DP=2515;ExcessHet=4.7409;FS=3.043;MLEAC=5;MLEAF=0.357;MQ=57.23;MQRankSum=-13.27;QD=6.97;ReadPosRankSum=1.83;SOR=0.842	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:92,70:162:99:0|1:54806034_C_A:2662,0,3652:54806034	2	0	5	0
chr19	54806075	54806075	-	GG	exonic	KIR2DL4;LOC112268354	.	frameshift insertion	KIR2DL4:NM_001080770:exon4:c.486_487insGG:p.A163Gfs*78,KIR2DL4:NM_001080772:exon4:c.486_487insGG:p.A163Gfs*83	.	415	630	474	3	0	480	0.275862	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.258e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	2.633e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	11971.1	281	chr19	54806075	.	A	AGG	11971.1	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-0.193;DP=2508;ExcessHet=4.7409;FS=3.09;MLEAC=5;MLEAF=0.357;MQ=57.23;MQRankSum=-13.15;QD=6.98;ReadPosRankSum=1.46;SOR=0.896	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:90,69:159:99:0|1:54806034_C_A:2626,0,3571:54806034	2	0	5	0
chr19	54806086	54806086	T	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.T497C:p.L166P,KIR2DL4:NM_001080772:exon4:c.T497C:p.L166P	.	417	638	464	3	0	470	0.269187	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.00126561986838	.	.	.	.	.	.	.	.	.	.	0.0108345	282	26028	rs112694450	2.054e-06	2.668e-05	1.362e-06	2.752e-06	2.699e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.699e-06	0	0	0	4.606e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.176	0.28772	T	0.247	0.31026	T	0.008	0.14655	B	0.01	0.16012	B	.	.	.	.	1	0.08975	N	0.96	0.23930	L	5.72	0.00726	T	-3.32	0.68764	D	0.048	0.08088	-0.8920	0.48758	T	0.002	0.00676	T	9	0.05647248	0.06334	T	0.001266	0.01708	T	0.084	0.24469	.	.	0.043077524339	0.03247	0.029543096631376373	0.02903	2.22587521974	0.95901	.	.	.	.	.	.	-0.333176	0.05874	T	-0.71636	0.04974	T	0.06923972269659	0.08545	T	.	.	.	.	.	.	.	.	.	.	.	-6.488	0.50992	T	.	.	0.125	0.36889	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.541643	0.01739	0.130	0.30546163533684245	0.01676	0.00084	0.00566	N	AEFDBI	0.040908	0.06150	N	-1.75954112441418	0.00652	0.02811985	-1.89857749402206	0.00493	0.0218348	4.00468085139758E-4	0.06820	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.728	-1.46	0.08338	-4.522000	0.00254	.	.	-1.727000	0.00720	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2448:0.2837:0.2446:0.2269	0.244	0.00182	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3571	11759.1	287	chr19	54806086	.	T	C	11759.1	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-0.621;DP=2489;ExcessHet=4.7409;FS=5.174;MLEAC=5;MLEAF=0.357;MQ=57.31;MQRankSum=-13.31;QD=6.94;ReadPosRankSum=-0.946;SOR=1.055	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:91,69:160:99:0|1:54806034_C_A:2623,0,3613:54806034	2	0	5	0
chr19	54806109	54806109	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A520G:p.I174V,KIR2DL4:NM_001080772:exon4:c.A520G:p.I174V	.	416	679	424	3	0	430	0.240492	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.00150018900562	.	.	.	.	.	.	.	.	.	.	0.0017673	46	26028	rs200435373	4.107e-06	8.21e-06	4.086e-06	4.128e-06	8.986e-05	1.48e-06	9.7e-07	2.381e-05	1.26e-05	8.986e-05	4.474e-05	0	0	0	0	8.995e-07	0	0	3.982e-05	6.581e-05	5.185e-05	2.72e-05	9.852e-05	1.73e-05	1.139e-05	3.296e-05	1.946e-05	9.852e-05	0	0	0	0	0	0	2.95e-05	0	0	1.0	0.00964	T	0.716	0.08273	T	0.0	0.02946	B	0.0	0.04355	B	0.000015	0.00162	N	21.575300	1	0.08975	N	-1.765	0.00315	N	2.72	0.11947	T	0.4	0.04022	N	0.064	0.09349	-0.9697	0.37262	T	0.008	0.02968	T	9	0.026097596	0.00785	T	0.002	0.02318	T	0.047	0.12962	.	.	0.043077524339	0.03247	0.009202094420106284	0.00883	1.30891436969	0.83166	.	.	.	.	.	.	-0.448991	0.01145	T	-0.882721	0.00632	T	0.0586992040478046	0.06962	T	.	.	.	.	.	.	.	.	.	.	.	-0.517	0.02545	T	.	.	0.065	0.05360	B	.;.;.;.;.;.	.;.;.;.;.;.	-2.275204	0.00054	0.001	0.16757461822379344	0.00462	0.00104	0.00666	N	AEFDBI	0.027275	0.02201	N	-2.5106296527513	0.00015	0.0006516505	-2.51493381181123	0.00021	0.0009431019	0.0431614665892215	0.14558	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.427	-0.854	0.10163	-0.997000	0.03816	.	.	-2.920000	0.00157	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3571	10119.1	283	chr19	54806109	.	A	G	10119.1	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-1.304;DP=2406;ExcessHet=4.7409;FS=6.687;MLEAC=5;MLEAF=0.357;MQ=57.61;MQRankSum=-13.22;QD=6.28;ReadPosRankSum=-2.327;SOR=1.264	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:86,61:147:99:0|1:54806034_C_A:2303,0,3428:54806034	2	0	5	0
chr19	54806112	54806112	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A523G:p.N175D,KIR2DL4:NM_001080772:exon4:c.A523G:p.N175D	.	414	926	180	2	0	184	0.0903733	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.00143953544246	.	.	.	.	.	.	.	.	.	.	0.000461	12	26028	rs796888355	6.845e-07	4.105e-06	1.362e-06	0	1.164e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.164e-05	0	1.315e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.03	0.45393	D	0.337	0.18178	T	0.002	0.09854	B	0.007	0.12992	B	0.005772	0.01094	U	5.332710	1	0.08975	N	0.345	0.11182	N	2.53	0.14038	T	-2.93	0.61865	D	0.138	0.13626	-0.9903	0.32525	T	0.026	0.11220	T	9	0.087477654	0.14971	T	0.00144	0.02164	T	0.015	0.02232	.	.	0.220282294035	0.21616	0.006777662489737481	0.00644	1.71896696176	0.90540	.	.	.	.	.	.	-0.416589	0.01799	T	-0.836177	0.01158	T	0.0856821440474374	0.10698	T	.	.	.	.	.	.	.	.	.	.	.	-7.374	0.57236	T	.	.	0.120	0.29060	B	.;.;.;.;.;.	.;.;.;.;.;.	0.412746	0.07838	4.531	0.79727465880553572	0.12873	0.00046	0.00367	N	AEFDBI	0.025639	0.01789	N	-1.25407888021563	0.04246	0.1912621	-1.39176687369686	0.03339	0.1555523	1.44639492226876E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.427	-0.795	0.10364	-0.556000	0.06082	.	.	0.352000	0.19979	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	.	.	.	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2143	2882.72	285	chr19	54806112	.	A	G	2882.72	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-1;DP=2366;ExcessHet=1.1394;FS=6.205;MLEAC=3;MLEAF=0.214;MQ=57.42;MQRankSum=-13.28;QD=2.44;ReadPosRankSum=-2.219;SOR=1.336	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:120,24:144:99:.:.:309,0,4411:.	4	0	3	0
chr19	54806161	54806161	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A572G:p.E191G,KIR2DL4:NM_001080772:exon4:c.A572G:p.E191G	.	416	1062	43	1	0	45	0.0207469	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	0.00319016254727	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1482608476	1.369e-06	2.805e-05	0	2.752e-06	1.164e-05	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.996e-07	0	1.164e-05	0	4.606e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.07471	B	0.0	0.01387	B	0.197140	0.03293	U	2.244820	1	0.08975	N	-2.95	0.00016	N	6.83	0.00484	T	4.86	0.00044	N	0.172	0.19190	-0.8522	0.51816	T	0.000	0.00075	T	10	0.030806363	0.01209	T	0.00319	0.06996	T	0.125	0.34456	.	.	0.0675242888579	0.06100	0.08634734685735217	0.08568	1.74118563909	0.90866	.	.	.	.	.	.	-0.3614	0.04051	T	-0.756902	0.03225	T	0.0659469353070313	0.08069	T	.	.	.	.	.	.	.	.	.	.	.	1.576	0.00090	T	.	.	0.029	0.00020	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.208131	0.03048	0.471	0.28823449377494542	0.01499	0.00008	0.00134	N	AEFDBI	0.016221	0.00352	N	-2.10568283398864	0.00124	0.005325665	-2.01989730429939	0.00278	0.01226669	1.20238691917371E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.728	-0.418	0.11728	0.692000	0.25161	.	.	-0.573000	0.04775	0.027000	0.20232	0.000000	0.08366	0.003000	0.05239	0.3266:0.0:0.6734:0.0	3.278	0.06497	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	635.37	213	chr19	54806161	.	A	G	635.37	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.75;DP=2015;ExcessHet=0.3476;FS=25.986;MLEAC=2;MLEAF=0.143;MQ=58.43;MQRankSum=-14.55;QD=1.49;ReadPosRankSum=2.31;SOR=3.713	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:83,18:101:99:0|1:54806034_C_A:506,0,3431:54806034	5	0	2	0
chr19	54806170	54806170	G	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.G581C:p.R194T,KIR2DL4:NM_001080772:exon4:c.G581C:p.R194T	.	417	1070	33	1	1	36	0.016092	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.00167460938054	.	.	.	.	.	.	.	.	.	.	.	.	.	rs903729815	0	1.505e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	4.607e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.068	0.35726	T	0.014	0.62352	D	0.843	0.60733	P	0.609	0.61644	P	0.908863	0.07403	N	1.076150	1	0.08975	N	2.435	0.70606	M	2.92	0.09915	T	-4.66	0.79482	D	0.251	0.41656	-1.0562	0.12724	T	0.069	0.28247	T	10	0.32319447	0.49660	T	0.001675	0.02753	T	0.086	0.25016	.	.	0.341886373756	0.33793	0.0825432362972079	0.08189	3.18632837919	0.99467	.	.	.	.	.	.	-0.182359	0.23386	T	-0.499722	0.22376	T	0.762926518917084	0.44021	D	.	.	.	.	.	.	.	.	.	.	.	-7.108	0.64010	T	.	.	0.181	0.51583	B	.;.;.;.;.;.	.;.;.;.;.;.	1.917375	0.24354	16.36	0.92977417747853819	0.22558	0.01550	0.05082	N	AEFDBI	0.044415	0.07142	N	-0.40202933579575	0.25397	1.378405	-0.700629391342907	0.16944	0.8987731	1.66932649274431E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.728	0.728	0.17411	0.730000	0.25711	.	.	-1.575000	0.00928	0.003000	0.16062	0.000000	0.08366	0.001000	0.02609	0.0:0.0:1.0:0.0	4.805	0.12681	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	566.24	212	chr19	54806170	.	G	C	566.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=3.92;DP=2003;ExcessHet=0.3476;FS=23.595;MLEAC=2;MLEAF=0.143;MQ=58.62;MQRankSum=-14.51;QD=1.4;ReadPosRankSum=0.645;SOR=3.469	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:75,17:92:99:0|1:54806034_C_A:488,0,3098:54806034	5	0	2	0
chr19	54806184	54806184	T	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.T595C:p.F199L,KIR2DL4:NM_001080772:exon4:c.T595C:p.F199L	.	418	1073	30	1	0	32	0.0146924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.00128745751053	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1169726842	0	1.095e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	5.266e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.191	0.21066	T	0.247	0.26066	T	0.043	0.21573	B	0.027	0.21085	B	0.005759	0.01093	N	5.479650	1	0.08975	N	0.64	0.16041	N	5.85	0.00643	T	-3.62	0.69593	D	0.061	0.03502	-0.9217	0.45320	T	0.003	0.00929	T	10	0.099934906	0.18167	T	0.001287	0.01784	T	0.052	0.14661	.	.	0.290620346082	0.28682	0.02907533590376118	0.02856	2.04366087562	0.94286	.	.	.	.	.	.	-0.26258	0.12600	T	-0.614955	0.11585	T	0.0610753484070301	0.07336	T	.	.	.	.	.	.	.	.	.	.	.	-6.709	0.51878	T	.	.	0.675	0.82233	P	.;.;.;.;.;.	.;.;.;.;.;.	-0.166739	0.03264	0.556	0.74081094485100063	0.10563	0.00161	0.00961	N	AEFBI	0.035128	0.04469	N	-1.23634316811277	0.04483	0.2024168	-1.37910423948924	0.03475	0.1621945	1.81584576774125E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.728	-0.617	0.10999	-2.589000	0.00974	.	.	-3.015000	0.00138	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4179:0.0:0.0:0.5821	2.752	0.04959	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	444.44	199	chr19	54806184	.	T	C	444.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=4.89;DP=1643;ExcessHet=0;FS=9.92;MLEAC=1;MLEAF=0.071;MQ=56.5;MQRankSum=-9.263;QD=5.05;ReadPosRankSum=-0.922;SOR=1.955	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:72,16:88:99:0|1:54806034_C_A:455,0,2975:54806034	6	0	1	0
chr19	54806191	54806191	G	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.G602A:p.G201E,KIR2DL4:NM_001080772:exon4:c.G602A:p.G201E	.	417	1081	23	1	0	25	0.0114312	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.000933240469926	.	.	.	.	.	.	.	.	.	.	.	.	.	rs751766410	2.739e-06	1.779e-05	2.725e-06	2.753e-06	6.004e-05	6.4e-07	4.3e-07	9.94e-06	3.72e-06	6.004e-05	0	0	0	0	0	0	0	2.329e-05	0	3.949e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.149	0.24758	T	0.989	0.03205	T	0.007	0.14184	B	0.017	0.18140	B	0.000834	0.00693	N	25.857100	1	0.08975	N	0.385	0.12166	N	5.77	0.00687	T	-0.11	0.09796	N	0.067	0.12198	-0.8412	0.52567	T	0.002	0.00526	T	10	0.035131097	0.01749	T	9.33E-4	0.00911	T	0.009	0.00846	.	.	0.043077524339	0.03247	0.014322109949426428	0.01389	1.91097436102	0.92909	.	.	.	.	.	.	-0.406241	0.02106	T	-0.821313	0.01426	T	0.152467426749554	0.17299	T	.	.	.	.	.	.	.	.	.	.	.	-5.575	0.45358	T	.	.	0.110	0.31330	B	.;.;.;.;.;.	.;.;.;.;.;.	-2.356574	0.00045	0.001	0.63035751494400261	0.07118	0.00046	0.00367	N	AEFBI	0.026834	0.02083	N	-2.40257893415306	0.00027	0.001151865	-2.47848935217197	0.00026	0.001144284	0.126168324027902	0.16994	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.728	-1.46	0.08338	-5.953000	0.00107	.	.	-2.820000	0.00180	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3698:0.2864:0.3438:0.0	3.815	0.08326	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	480.44	192	chr19	54806191	.	G	A	480.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.223;DP=1639;ExcessHet=0;FS=9.648;MLEAC=1;MLEAF=0.071;MQ=56.32;MQRankSum=-9.416;QD=5.28;ReadPosRankSum=-1.36;SOR=1.904	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:74,17:91:99:0|1:54806034_C_A:491,0,3056:54806034	6	0	1	0
chr19	54808838	54808838	C	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon5:c.C661T:p.P221S,KIR2DL4:NM_001080772:exon5:c.C661T:p.P221S	.	424	736	361	1	0	363	0.19782	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.000621740094912	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.39e-06	2.737e-06	0	2.789e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	9.144e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.277	0.21968	T	0.279	0.21745	T	0.006	0.13644	B	0.003	0.08700	B	0.046212	0.01956	U	5.272780	1	0.08975	N	0.045	0.08109	N	7.05	0.00450	T	-2.36	0.55025	N	0.061	0.06587	-0.9252	0.44829	T	0.001	0.00255	T	10	0.058746576	0.06953	T	6.22E-4	0.00303	T	0.018	0.03083	.	.	0.0675242888579	0.06100	0.02819159353811284	0.02769	1.54876453167	0.87867	.	.	.	.	.	.	-0.366904	0.03753	T	-0.764809	0.02943	T	0.114286564290524	0.13862	T	.	.	.	.	.	.	.	.	.	.	.	-4.184	0.26519	T	.	.	0.104	0.18950	B	.;.;.;.	.;.;.;.	-0.289144	0.02665	0.341	0.41441202538805488	0.02990	0.00018	0.00208	N	AEFBI	0.019551	0.00689	N	-1.61870495931056	0.01174	0.05102983	-1.71290992187964	0.01081	0.04855486	3.23883740516504E-5	0.03775	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.852	-1.7	0.07721	-0.587000	0.05874	.	.	-0.888000	0.02403	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.0:0.2772:0.3273:0.3955	2.159	0.03587	982	0.03397	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2857	10056.1	276	chr19	54808838	.	C	T	10056.1	.	AC=4;AF=0.286;AN=14;BaseQRankSum=4.4;DP=1648;ExcessHet=2.5225;FS=2.262;MLEAC=4;MLEAF=0.286;MQ=57.35;MQRankSum=-15.2;QD=6.46;ReadPosRankSum=1.4;SOR=0.952	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:72,49:121:99:0|1:54808838_C_T:1841,0,2876:54808838	3	0	4	0
chr19	54808851	54808852	GG	-	exonic	KIR2DL4;LOC112268354	.	frameshift deletion	KIR2DL4:NM_001080770:exon5:c.674_675del:p.W225Sfs*5,KIR2DL4:NM_001080772:exon5:c.674_675del:p.W225Sfs*5	.	420	753	348	1	0	350	0.188578	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	11505.1	298	chr19	54808850	.	TGG	T	11505.1	.	AC=4;AF=0.286;AN=14;BaseQRankSum=3.41;DP=1741;ExcessHet=2.5225;FS=1.35;MLEAC=4;MLEAF=0.286;MQ=57.51;MQRankSum=-14.6;QD=7.01;ReadPosRankSum=-0.778;SOR=0.813	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:71,55:128:99:.:.:2087,0,2907:.	3	0	4	0
chr19	54808853	54808853	-	AT	exonic	KIR2DL4;LOC112268354	.	frameshift insertion	KIR2DL4:NM_001080770:exon5:c.676_677insAT:p.P226Hfs*15,KIR2DL4:NM_001080772:exon5:c.676_677insAT:p.P226Hfs*20	.	419	755	347	1	0	349	0.187735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	11494.1	298	chr19	54808853	.	C	CAT	11494.1	.	AC=4;AF=0.286;AN=14;BaseQRankSum=3.09;DP=1744;ExcessHet=2.5225;FS=1.357;MLEAC=4;MLEAF=0.286;MQ=57.57;MQRankSum=-14.36;QD=7.04;ReadPosRankSum=-0.862;SOR=0.808	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:74,55:129:99:0|1:54808838_C_T:2087,0,2942:54808838	3	0	4	0
chr19	54808875	54808875	T	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon5:c.T698C:p.F233S,KIR2DL4:NM_001080772:exon5:c.T698C:p.F233S	.	419	767	335	1	0	337	0.180118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.000447511138945	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1465997687	1.376e-06	1.368e-06	1.37e-06	1.382e-06	6.075e-05	2.3e-07	9e-08	1.006e-05	3.76e-06	6.075e-05	0	0	0	0	0	0	0	0	1.993e-05	1.974e-05	1.297e-05	2.724e-05	7.415e-05	5.3e-06	2.47e-06	1.966e-05	1.045e-05	7.415e-05	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	0.506	0.10967	T	0.0	0.07471	B	0.002	0.06944	B	0.491149	0.05037	U	1.930170	1	0.08975	N	-1.515	0.00494	N	7.25	0.00433	T	2.25	0.00307	N	0.14	0.13911	-0.9819	0.34561	T	0.000	0.00152	T	10	0.028942287	0.01023	T	4.48E-4	0.00107	T	0.009	0.00846	.	.	0.043077524339	0.03247	0.02708054647761313	0.02658	2.35642927456	0.96844	.	.	.	.	.	.	-0.409861	0.01992	T	-0.826513	0.01325	T	0.0655447216952588	0.08011	T	.	.	.	.	.	.	.	.	.	.	.	-0.475	0.00568	T	.	.	0.070	0.03887	B	.;.;.;.	.;.;.;.	-0.295392	0.02636	0.333	0.47455017389395787	0.03881	0.00276	0.01495	N	AEFBCI	0.026542	0.02011	N	-2.02046759288525	0.00191	0.008189703	-2.03483107511558	0.00258	0.01138985	2.16622587642089E-5	0.03498	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.852	-1.7	0.07721	-2.798000	0.00832	.	.	-2.007000	0.00444	0.000000	0.06391	0.000000	0.08366	0.019000	0.11356	0.0:0.4355:0.0:0.5645	3.991	0.09026	982	0.03397	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001862	0.000000	0.000000	0.000000	0.000000	0.000000	0.010989	0.000000	0.2857	12587.1	309	chr19	54808875	.	T	C	12587.1	.	AC=4;AF=0.286;AN=14;BaseQRankSum=2.63;DP=1789;ExcessHet=2.5225;FS=0;MLEAC=4;MLEAF=0.286;MQ=57.86;MQRankSum=-13.9;QD=7.55;ReadPosRankSum=-2.419;SOR=0.713	GT:AD:DP:GQ:PL	0/1:76,59:135:99:2250,0,1876	3	0	4	0
chr19	54818334	54818334	C	G	exonic	KIR3DL1;KIR3DS1;LOC112268355	.	nonsynonymous SNV	KIR3DS1:NM_001083539:exon3:c.C90G:p.F30L,KIR3DL1:NM_001322168:exon3:c.C90G:p.F30L,LOC112268355:NM_001368254:exon3:c.C90G:p.F30L,KIR3DL1:NM_013289:exon3:c.C90G:p.F30L	.	409	980	132	1	0	134	0.0639924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.000726772846973	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs796737833	0	9.579e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	2.072e-05	5.952e-05	1.345e-05	2.84e-05	5.367e-05	5.51e-06	2.53e-06	8.89e-06	3.33e-06	5.367e-05	0	0	0	0	0	0	1.494e-05	0	0	0.019	0.51248	D	0.179	0.31936	T	0.016	0.17332	B	0.005	0.11217	B	0.606702	0.10905	U	0.694506	1	0.08975	N	1.005	0.25186	L	2.74	0.11730	T	-1.84	0.43149	N	0.038	0.01203	-1.0448	0.15884	T	0.064	0.26597	T	10	0.17020887	0.31671	T	7.27E-4	0.00491	T	0.038	0.09825	0.41	0.44559	0.190952846119	0.18690	0.1368163841598621	0.13605	0.463344262132	0.45844	.	.	.	0.011996	0.10618	T	-0.309569	0.07786	T	-0.682451	0.06835	T	0.523284256458282	0.33486	D	.	.	.	0.40859932	0.61323	0.20662923	0.44885	0.40859932	0.61324	0.20662923	0.44884	-7.3	0.56196	T	.	.	0.630	0.70117	P	.;.	.;.	0.517664	0.08863	5.644	0.56971344393487089	0.05667	0.00654	0.02841	N	AEFDBI	0.053944	0.09766	N	-0.752497373158588	0.14565	0.7266309	-1.00589574152565	0.09655	0.4816217	1.42406525206038E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.41	-1.15	0.09211	0.012000	0.13184	.	.	-0.657000	0.04367	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3251:0.4432:0.0:0.2316	1.833	0.02945	982	0.03397	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	48.63	65	chr19	54818334	.	C	G	48.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.641;DP=851;ExcessHet=0;FS=1.943;MLEAC=1;MLEAF=0.071;MQ=58.75;MQRankSum=-7.308;QD=0.88;ReadPosRankSum=2.31;SOR=0.301	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:50,5:55:59:0|1:54818328_A_G:59,0,2038:54818328	6	0	1	0
chr19	54830166	54830166	G	C	exonic	KIR3DL1	.	nonsynonymous SNV	KIR3DL1:NM_001322168:exon9:c.G1226C:p.R409T,KIR3DL1:NM_013289:exon9:c.G1226C:p.R409T	.	489	977	43	13	0	69	0.0341078	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.00280289760826	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1402897436	0	6.612e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	4.13e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.09	0.63226	T	0.404	0.21545	T	0.008	0.14655	B	0.016	0.17743	B	.	.	.	.	1	0.08975	N	2.205	0.62170	M	7.22	0.00442	T	-2.14	0.48523	N	0.155	0.19861	-0.9566	0.39807	T	0.001	0.00438	T	8	0.05749756	0.06613	T	0.002803	0.05840	T	0.014	0.01968	0.257	0.19845	0.0611884634855	0.05136	0.14103244144494176	0.14026	0.341241828603	0.36058	.	.	.	0.005761	0.05208	T	-0.327897	0.06272	T	-0.708778	0.05358	T	0.0654255235430696	0.07993	T	.	.	.	0.077683635	0.17647	0.09936527	0.23722	0.077683635	0.17647	0.09936527	0.23722	-8.799	0.66394	D	.	.	0.112	0.22573	B	.;.;.	.;.;.	-0.127859	0.03478	0.649	0.55859222650876794	0.05430	0.00622	0.02746	N	AEFBI	0.041929	0.06440	N	-1.14611797788255	0.05843	0.2674817	-1.32606166375958	0.04096	0.1925055	3.25109135686022E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.719	-1.44	0.08391	-0.857000	0.04394	.	.	0.254000	0.18348	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	.	.	.	982	0.03397	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	3097.96	149	chr19	54830166	.	G	C	3097.96	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-3.882;DP=993;ExcessHet=1.1394;FS=0;MLEAC=3;MLEAF=0.25;MQ=57.7;MQRankSum=-15.91;QD=4.08;ReadPosRankSum=0.554;SOR=0.652	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:130,41:171:99:0|1:54830110_A_T:1330,0,5335:54830110	3	0	3	1
chr19	54830177	54830177	C	T	exonic	KIR3DL1	.	nonsynonymous SNV	KIR3DL1:NM_001322168:exon9:c.C1237T:p.R413C,KIR3DL1:NM_013289:exon9:c.C1237T:p.R413C	.	487	975	47	13	0	73	0.036085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.00205586965996	.	0.000199681	2.628e-05	0.0002	9.156e-05	0	0	0	0	0	3.84e-05	1	26028	rs573252093	1.446e-05	8.441e-05	1.723e-05	1.165e-05	0.0002	9.44e-06	7.68e-06	4.146e-05	2.416e-05	0.0001	9.576e-05	0	0	0	0.0002	7.555e-06	1.754e-05	2.641e-05	4.289e-05	0.0001	5.533e-05	2.959e-05	0.0002	1.84e-05	1.211e-05	6.588e-05	4.499e-05	0.0002	0	0	0	0	0	0	0	0	0	0.116	0.49117	T	0.123	0.35970	T	0.004	0.12183	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	1.61	0.41143	L	7.15	0.00445	T	-2.1	0.47852	N	0.103	0.14196	-0.9722	0.36734	T	0.001	0.00408	T	8	0.05926463	0.07096	T	0.002056	0.03748	T	0.019	0.03383	.	.	0.124217242631	0.12060	0.14280557230036842	0.14203	0.306309179821	0.32927	.	.	.	0.004918	0.04343	T	-0.530801	0.00380	T	-0.694259	0.06145	T	0.0218732288632759	0.00894	T	.	.	.	0.11626438	0.27425	0.10402554	0.24975	0.11626438	0.27425	0.10402554	0.24975	-8.101	0.62445	D	.	.	0.106	0.21541	B	.;.;.	.;.;.	1.217707	0.16111	12.33	0.46755602533799501	0.03769	0.01115	0.04074	N	AEFBI	0.054109	0.09809	N	-1.01848295800702	0.08221	0.384663	-1.15555151539374	0.06668	0.3217553	2.10729526415108E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.569	0.569	0.16525	0.650000	0.24544	.	.	0.228000	0.18124	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	.	.	.	982	0.03397	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	3104.05	149	chr19	54830177	.	C	T	3104.05	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-3.763;DP=1021;ExcessHet=1.1394;FS=0.732;MLEAC=3;MLEAF=0.25;MQ=57.73;MQRankSum=-16.53;QD=3.94;ReadPosRankSum=1.89;SOR=0.602	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:134,42:176:99:0|1:54830110_A_T:1360,0,5500:54830110	3	0	3	1
chr19	54830178	54830178	G	C	exonic	KIR3DL1	.	nonsynonymous SNV	KIR3DL1:NM_001322168:exon9:c.G1238C:p.R413P,KIR3DL1:NM_013289:exon9:c.G1238C:p.R413P	.	488	973	48	13	0	74	0.0366337	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.00338705456639	.	.	.	.	.	.	.	.	.	.	.	.	.	rs984592565	2.892e-06	0.0003	0	5.825e-06	1.321e-05	6.8e-07	4.6e-07	7.5e-07	2.1e-07	0	0	0	0	0	0	2.833e-06	0	1.321e-05	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.075	0.38407	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	0.215	0.09537	N	7.23	0.00430	T	-0.45	0.24676	N	0.05	0.04072	-0.9082	0.47073	T	0.001	0.00255	T	8	0.05937442	0.07126	T	0.003387	0.07603	T	0.016	0.02506	0.366	0.37361	0.0401082797425	0.02173	0.09140339593159023	0.09073	0.323214894628	0.34489	.	.	.	0.001071	0.00595	T	-0.371148	0.03536	T	-0.770905	0.02738	T	0.0905973222850487	0.11288	T	.	.	.	0.09353458	0.21971	0.14968953	0.35334	0.09353458	0.21970	0.14968953	0.35333	-5.275	0.49736	T	.	.	0.093	0.14797	B	.;.;.	.;.;.	-0.439146	0.02071	0.191	0.43628759508592302	0.03298	0.00008	0.00134	N	AEFBI	0.019406	0.00671	N	-1.59627941012569	0.01283	0.05585422	-1.71860603525739	0.01058	0.04746591	9.63160874456533E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.569	-1.14	0.09241	-0.491000	0.06555	.	.	-0.821000	0.02958	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	.	.	.	982	0.03397	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	3146.05	149	chr19	54830178	.	G	C	3146.05	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-3.047;DP=1022;ExcessHet=1.1394;FS=0.732;MLEAC=3;MLEAF=0.25;MQ=57.7;MQRankSum=-16.56;QD=3.99;ReadPosRankSum=2.09;SOR=0.62	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:133,43:176:99:0|1:54830110_A_T:1405,0,5455:54830110	3	0	3	1
chr19	54830217	54830217	T	C	exonic	KIR3DL1	.	nonsynonymous SNV	KIR3DL1:NM_001322168:exon9:c.T1277C:p.I426T,KIR3DL1:NM_013289:exon9:c.T1277C:p.I426T	.	490	959	60	13	0	86	0.0429142	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.00252436282351	.	.	.	.	.	.	.	.	.	.	.	.	.	rs199822561	1.447e-06	6.26e-05	1.437e-06	1.458e-06	1.89e-06	2.4e-07	9e-08	3.1e-07	1.2e-07	0	0	0	0	0	0	1.89e-06	0	0	0	8.482e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.053	0.38863	T	0.707	0.18732	T	0.001	0.07471	B	0.007	0.12992	B	.	.	.	.	1	0.08975	N	1.51	0.38214	L	7.01	0.00465	T	1.33	0.01107	N	0.136	0.15469	-0.9482	0.41279	T	0.001	0.00378	T	8	0.053025752	0.05429	T	0.002524	0.05037	T	0.031	0.07369	0.329	0.31357	0.0138822411134	0.00435	0.05436384389562955	0.05378	0.2842650222	0.30852	.	.	.	0.00346	0.02869	T	-0.377913	0.03211	T	-0.780622	0.02435	T	0.109476455881908	0.13368	T	.	.	.	0.060243543	0.12340	0.12511967	0.30151	0.060243543	0.12340	0.12511967	0.30150	-2.004	0.06104	T	.	.	0.127	0.34160	B	.;.;.	.;.;.	-0.422644	0.02129	0.203	0.1578796069653349	0.00399	0.00213	0.01210	N	AEFBI	0.035053	0.04446	N	-1.5374920893244	0.01609	0.07032718	-1.65054767699224	0.01373	0.06202174	1.82473746354949E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.569	-0.727	0.10603	-0.855000	0.04403	.	.	-2.187000	0.00360	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	982	0.03397	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	3260.05	149	chr19	54830217	.	T	C	3260.05	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-4.548;DP=1015;ExcessHet=1.1394;FS=0;MLEAC=3;MLEAF=0.25;MQ=57.62;MQRankSum=-16.68;QD=4.17;ReadPosRankSum=4.32;SOR=0.668	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:131,43:174:99:0|1:54830110_A_T:1411,0,5371:54830110	3	0	3	1
chr19	54830219	54830219	T	A	exonic	KIR3DL1	.	nonsynonymous SNV	KIR3DL1:NM_001322168:exon9:c.T1279A:p.L427M,KIR3DL1:NM_013289:exon9:c.T1279A:p.L427M	.	490	958	61	13	0	87	0.0434348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.00220836784564	.	.	1.752e-05	0	0	0	0	3.156e-05	0	0	1.29e-05	2	154602	rs200821495	2.17e-06	0.0009	0	4.372e-06	9.449e-07	5.8e-07	1.6e-07	.	.	0	0	0	0	0	0	9.449e-07	3.512e-05	0	7.376e-06	0.0005	1.429e-05	0	1.625e-05	0	0	.	.	0	0	0	0	0	0	0	1.625e-05	0	0	0.036	0.43708	D	0.044	0.49942	D	0.001	0.07471	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	-0.55	0.02420	N	7.15	0.00440	T	0.02	0.07155	N	0.097	0.09066	-0.9488	0.41177	T	0.001	0.00255	T	8	0.059903473	0.07273	T	0.002208	0.04178	T	0.033	0.08068	0.343	0.33626	0.0611884634855	0.05136	0.06365489919836881	0.06304	0.217370059748	0.24259	.	.	.	0.001032	0.00564	T	-0.359885	0.04136	T	-0.754727	0.03305	T	0.0475029693969738	0.05054	T	.	.	.	0.12672478	0.29674	0.09114859	0.21413	0.12672478	0.29673	0.09114859	0.21413	-2.726	0.11147	T	.	.	0.087	0.11027	B	.;.;.	.;.;.	-0.079285	0.03768	0.787	0.57251924956472933	0.05728	0.00098	0.00638	N	AEFBI	0.020111	0.00761	N	-1.48858900803104	0.01930	0.08470691	-1.56128690325375	0.01899	0.08661785	1.77709840166136E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.569	0.569	0.16525	-0.346000	0.07809	.	.	-2.056000	0.00415	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	.	.	.	982	0.03397	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	3269.05	149	chr19	54830219	.	T	A	3269.05	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-4.616;DP=1013;ExcessHet=1.1394;FS=0;MLEAC=3;MLEAF=0.25;MQ=57.62;MQRankSum=-16.78;QD=4.2;ReadPosRankSum=3.98;SOR=0.653	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:133,43:176:99:0|1:54830110_A_T:1405,0,5455:54830110	3	0	3	1
chr19	54830226	54830226	C	T	exonic	KIR3DL1	.	nonsynonymous SNV	KIR3DL1:NM_001322168:exon9:c.C1286T:p.T429M,KIR3DL1:NM_013289:exon9:c.C1286T:p.T429M	.	491	956	62	13	0	88	0.044	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.00266394809513	7.9e-05	.	4.38e-05	0.0004	0	0	0	1.578e-05	0	0	7.12e-05	11	154602	rs72629105	2.892e-06	0.0008	1.435e-06	4.369e-06	2.833e-06	6.8e-07	4.6e-07	7.5e-07	2.1e-07	0	0	0	0	0	0	2.833e-06	1.754e-05	0	2.894e-05	0.0005	4.202e-05	1.496e-05	7.701e-05	9.76e-06	5.56e-06	2.041e-05	1.066e-05	7.701e-05	0	0	0	0	0	0	1.605e-05	0	0	0.054	0.52492	T	0.299	0.22359	T	0.122	0.26746	B	0.025	0.20508	B	.	.	.	.	1	0.08975	N	0.95	0.23787	L	7.16	0.00445	T	0.53	0.04022	N	0.061	0.03726	-0.9699	0.37220	T	0.001	0.00287	T	8	0.04146093	0.02803	T	0.002664	0.05434	T	0.003	0.00094	.	.	0.0482279557977	0.04254	0.1972985884992638	0.19646	0.240531653146	0.26595	.	.	.	0.001518	0.00960	T	-0.551009	0.00288	T	-0.749827	0.03492	T	0.0218708623688418	0.00894	T	.	.	.	0.024346609	0.01257	0.069218	0.14554	0.024346609	0.01257	0.069218	0.14554	-2.712	0.13893	T	.	.	0.079	0.09385	B	.;.;.	.;.;.	-0.578230	0.01633	0.113	0.60277366403116528	0.06425	0.00031	0.00285	N	AEFBI	0.021009	0.00889	N	-1.21141140468678	0.04833	0.218967	-1.35673268790221	0.03727	0.1744511	2.06319095939035E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.569	-1.01	0.09650	-1.643000	0.02106	.	.	-2.138000	0.00378	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	982	0.03397	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	3182.05	149	chr19	54830226	.	C	T	3182.05	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-4.055;DP=1015;ExcessHet=1.1394;FS=0;MLEAC=3;MLEAF=0.25;MQ=57.66;MQRankSum=-16.75;QD=4.1;ReadPosRankSum=2.84;SOR=0.652	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:134,42:176:99:0|1:54830110_A_T:1360,0,5500:54830110	3	0	3	1
chr19	54830253	54830253	C	-	exonic	KIR3DL1	.	frameshift deletion	KIR3DL1:NM_001322168:exon9:c.1313delC:p.S438Ffs*6,KIR3DL1:NM_013289:exon9:c.1313delC:p.S438Ffs*6	.	484	969	56	13	0	82	0.0405941	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.228e-07	4.922e-05	0	1.456e-06	9.442e-07	0	0	.	.	0	0	0	0	0	0	9.442e-07	0	0	0	4.801e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	2831.68	149	chr19	54830252	.	TC	T	2831.68	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-2.8;DP=951;ExcessHet=1.1394;FS=0;MLEAC=3;MLEAF=0.214;MQ=57.76;MQRankSum=-16.38;QD=3.97;ReadPosRankSum=-2.248;SOR=0.756	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:121,37:158:99:0|1:54830110_A_T:1189,0,4969:54830110	4	0	3	0
chr19	54830256	54830258	AAG	-	exonic	KIR3DL1	.	nonframeshift deletion	KIR3DL1:NM_001322168:exon9:c.1316_1318del:p.C439_T445delinsFLPISTTVRP*,KIR3DL1:NM_013289:exon9:c.1316_1318del:p.C439_T445delinsFLPISTTVRP*	.	491	962	56	13	0	82	0.0408774	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.446e-06	4.922e-05	1.435e-06	1.456e-06	1.888e-06	2.4e-07	9e-08	3.1e-07	1.2e-07	0	0	0	0	0	0	1.888e-06	0	0	0	4.808e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	2798.01	149	chr19	54830255	.	AAAG	A	2798.01	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-1.896;DP=947;ExcessHet=1.1394;FS=0;MLEAC=3;MLEAF=0.25;MQ=57.79;MQRankSum=-16.41;QD=3.94;ReadPosRankSum=-2.077;SOR=0.742	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:119,37:156:99:0|1:54830110_A_T:1195,0,4885:54830110	3	0	3	1
chr19	54835088	54835088	T	G	exonic	KIR2DS4	.	nonsynonymous SNV	KIR2DS4:NM_001281971:exon2:c.T44G:p.L15W,KIR2DS4:NM_001281972:exon2:c.T44G:p.L15W	.	436	1020	60	6	0	72	0.0340909	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0043	.	0.0015	0.0006	0.0005	0.0002	0.0020	0.0021	0.0035	0.0009	0.0008452	22	26028	rs200101952	0.0004	0.0030	0.0003	0.0005	0.0017	0.0003	0.0003	0.0014	0.0013	9.206e-05	0.0007	0.0004	0.0004	0.0011	0.0002	0.0002	0.0002	0.0017	0.0004	0.0042	0.0004	0.0004	0.0008	0.0003	0.0003	0.0004	0.0003	0.0002	0	0.0002	0.0006	0.0002	0.0006	0	0.0005	0.0021	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.013975	0.015464	0.017857	0.020958	0.000000	0.026786	0.016234	0.012097	0.07143	87.46	82	chr19	54835088	.	T	G	87.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.255;DP=435;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=58.64;MQRankSum=-6.863;QD=1.48;ReadPosRankSum=-2.248;SOR=0.522	GT:AD:DP:GQ:PL	0/1:51,8:59:98:98,0,1401	6	0	1	0
chr19	54855625	54855625	A	T	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon5:c.A662T:p.Y221F,KIR3DL2:NM_006737:exon5:c.A662T:p.Y221F	.	417	757	348	0	0	348	0.186896	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.000464580640836	.	.	.	.	.	.	.	.	.	.	.	.	.	rs953284565	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.973e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.297	0.22084	T	0.998	0.73220	D	0.957	0.69900	D	0.987012	0.08056	U	0.989616	1	0.08975	N	1.825	0.47900	L	5.76	0.00695	T	-2.9	0.60827	D	0.098	0.12770	-0.9144	0.46298	T	0.007	0.02518	T	10	0.1624504	0.30445	T	4.65E-4	0.00116	T	0.019	0.03383	0.518	0.61915	0.336892272479	0.33291	0.018868245159557127	0.01840	1.60845377238	0.88855	0.403694212437	0.25583	T	0.067962	0.33336	T	-0.305796	0.08124	T	-0.677031	0.07167	T	0.537836849689484	0.34024	D	.	.	.	0.19793491	0.41677	0.16741675	0.38624	0.19793491	0.41677	0.16741675	0.38624	-6.639	0.51350	T	.	.	0.148	0.32589	B	.;.	.;.	0.893731	0.12673	9.197	0.95973909104232413	0.28337	0.00299	0.01594	N	AEFBI	0.032299	0.03618	N	-0.732235372597301	0.15120	0.7592366	-0.957408281364291	0.10751	0.5435199	1.67992491567851E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.993	-0.254	0.12350	-0.950000	0.03999	.	.	-0.201000	0.08892	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5937:0.4063:0.0:0.0	3.712	0.07954	982	0.03397	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3571	6949.34	221	chr19	54855625	.	A	T	6949.34	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-0.929;DP=1073;ExcessHet=4.7409;FS=7.737;MLEAC=4;MLEAF=0.286;MQ=56.93;MQRankSum=-11.32;QD=7.22;ReadPosRankSum=1.77;SOR=0.66	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:92,49:141:99:0|1:54855608_TCTC_T:1781,0,3716:54855608	2	0	5	0
chr19	54855628	54855628	A	G	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon5:c.A665G:p.E222G,KIR3DL2:NM_006737:exon5:c.A665G:p.E222G	.	417	765	340	0	0	340	0.181818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.0011106169865	.	.	.	.	.	.	.	.	.	.	.	.	.	rs985925024	6.844e-07	2.052e-06	1.362e-06	0	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	0	1.972e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.118	0.28148	T	0.271	0.22291	T	0.999	0.77913	D	0.99	0.78936	D	0.407241	0.04570	U	1.688890	1	0.08975	N	0.38	0.12130	N	5.81	0.00662	T	-1.77	0.41809	N	0.087	0.10769	-0.8640	0.50973	T	0.005	0.01833	T	10	0.0910846	0.15926	T	0.001111	0.01336	T	0.018	0.03083	0.409	0.44395	0.184867976434	0.18130	0.04741152337579393	0.04684	1.9288275753	0.93111	0.312949419022	0.12353	T	0.061579	0.31691	T	-0.358922	0.04191	T	-0.753343	0.03358	T	0.0479596368968487	0.05137	T	.	.	.	0.038775276	0.05231	0.055304885	0.09676	0.038775276	0.05230	0.055304885	0.09675	-4.68	0.36840	T	.	.	0.068	0.03552	B	.;.	.;.	0.681116	0.10498	7.211	0.93748499984386979	0.23687	0.00095	0.00623	N	AEFBI	0.022196	0.01079	N	-0.906883655702748	0.10679	0.5115434	-1.03393035090106	0.09045	0.4478514	2.60640366773723E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.993	0.993	0.18943	-0.810000	0.04612	.	.	-0.201000	0.08892	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	1.0:0.0:0.0:0.0	4.242	0.10106	982	0.03397	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2857	6738.04	224	chr19	54855628	.	A	G	6738.04	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-2.16;DP=1085;ExcessHet=2.5225;FS=9.283;MLEAC=4;MLEAF=0.286;MQ=57.09;MQRankSum=-11.7;QD=6.94;ReadPosRankSum=1.65;SOR=0.686	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:95,48:143:99:0|1:54855608_TCTC_T:1730,0,3836:54855608	3	0	4	0
chr19	54855667	54855668	AG	-	exonic	KIR3DL2	.	frameshift deletion	KIR3DL2:NM_001242867:exon5:c.704_705del:p.Q235Rfs*10,KIR3DL2:NM_006737:exon5:c.704_705del:p.Q235Rfs*10	.	415	977	130	0	0	130	0.06238	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	2402.69	212	chr19	54855666	.	CAG	C	2402.69	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-1.283;DP=875;ExcessHet=1.1394;FS=16.108;MLEAC=3;MLEAF=0.214;MQ=57.38;MQRankSum=-11.45;QD=3.59;ReadPosRankSum=-1.126;SOR=1.557	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:109,25:134:99:0|1:54855666_CAG_C:700,0,4461:54855666	4	0	3	0
chr19	54855669	54855669	-	CA	exonic	KIR3DL2	.	frameshift insertion	KIR3DL2:NM_001242867:exon5:c.706_707insCA:p.G237Qfs*5,KIR3DL2:NM_006737:exon5:c.706_707insCA:p.G237Qfs*5	.	418	973	131	0	0	131	0.0630717	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	2411.69	212	chr19	54855669	.	G	GCA	2411.69	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-1.555;DP=844;ExcessHet=1.1394;FS=17.888;MLEAC=3;MLEAF=0.214;MQ=57.64;MQRankSum=-13.41;QD=3.62;ReadPosRankSum=-1.826;SOR=1.61	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:109,25:134:99:0|1:54855666_CAG_C:700,0,4461:54855666	4	0	3	0
chr19	54855702	54855702	T	A	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon5:c.T739A:p.W247R,KIR3DL2:NM_006737:exon5:c.T739A:p.W247R	.	418	1096	7	0	1	8	0.00318327	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.000513965063079	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.844e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.23	0.25827	T	0.0	0.02946	B	0.002	0.06944	B	0.007305	0.01163	N	6.284920	1	0.08975	N	-0.905	0.01334	N	4.12	0.02891	T	2.77	0.00192	N	0.074	0.05287	-0.9554	0.40024	T	0.004	0.01159	T	10	0.0278669	0.00925	T	5.14E-4	0.00163	T	0.006	0.00375	0.383	0.40134	0.148003135375	0.14442	0.03313264070354783	0.03261	2.56269628182	0.97972	0.291219711304	0.09100	T	0.013561	0.11709	T	-0.45857	0.01003	T	-0.896481	0.00528	T	0.0652051243997332	0.07961	T	.	.	.	0.038792573	0.05237	0.03620834	0.03021	0.038792573	0.05237	0.03620834	0.03021	-1.24	0.01520	T	.	.	0.056	0.00444	B	.;.	.;.	-1.017771	0.00746	0.023	0.28703814929394555	0.01487	0.00064	0.00463	N	AEFBI	0.018163	0.00530	N	-2.08547964821295	0.00138	0.005896707	-2.12188863542438	0.00167	0.007337207	3.705165035272E-5	0.03775	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.993	-1.99	0.07047	-2.672000	0.00915	.	.	-3.099000	0.00124	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4704:0.3018:0.2278	4.218	0.09998	982	0.03397	Immunoglobulin|Immunoglobulin subtype;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	84.24	39	chr19	54855702	.	T	A	84.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=2.78;DP=628;ExcessHet=0.3476;FS=39.255;MLEAC=2;MLEAF=0.143;MQ=58.45;MQRankSum=-11.07;QD=0.2;ReadPosRankSum=-3.308;SOR=4.23	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:115,9:124:32:0|1:54855695_T_C:32,0,4781:54855695	5	0	2	0
chr19	54859084	54859084	C	T	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_006737:exon6:c.C955T:p.P319S	.	416	1029	76	1	0	78	0.0365169	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.000624441967726	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.026e-05	1.231e-05	4.085e-06	1.651e-05	1.259e-05	6.16e-06	4.89e-06	7.31e-06	5.72e-06	0	0	0	0	0	0	1.259e-05	1.656e-05	0	6.572e-06	2.625e-05	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.089	0.32141	T	0.425	0.13912	T	0.886	0.48745	P	0.383	0.43945	B	.	.	.	.	1	0.08975	N	0.41	0.12415	N	7.02	0.00454	T	-2.97	0.61865	D	0.064	0.03613	-0.8674	0.50724	T	0.001	0.00467	T	9	0.09483707	0.16894	T	6.24E-4	0.00303	T	0.064	0.18567	0.248	0.18447	0.117506650769	0.11410	0.04836548424617068	0.04779	1.71135710155	0.90445	0.356161952019	0.18825	T	0.059672	0.31178	T	-0.393334	0.02559	T	-0.802774	0.01834	T	0.34234310394307	0.26717	T	.	.	.	0.039089512	0.05330	0.078269705	0.17516	0.039089512	0.05330	0.078269705	0.17516	-2.822	0.08388	T	.	.	0.088	0.11606	B	.	.	0.788312	0.11583	8.178	0.84617625941685071	0.15397	0.00022	0.00232	N	AEFGBI	0.014378	0.00226	N	-0.746472741392689	0.14729	0.7361992	-0.985325967743381	0.10114	0.5073769	0.00905559668788433	0.11788	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.851	-0.604	0.11043	-0.027000	0.12319	.	.	-0.464000	0.05108	0.037000	0.20830	0.000000	0.08366	0.012000	0.09680	0.0:0.3552:0.0:0.6448	2.974	0.05570	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2143	2045.72	305	chr19	54859084	.	C	T	2045.72	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-1.416;DP=1054;ExcessHet=1.1394;FS=0.839;MLEAC=3;MLEAF=0.214;MQ=44.48;MQRankSum=-6.839;QD=2.27;ReadPosRankSum=-1.443;SOR=0.794	GT:AD:DP:GQ:PL	0/1:206,31:237:99:684,0,5232	4	0	3	0
chr19	54859097	54859098	GG	-	exonic	KIR3DL2	.	frameshift deletion	KIR3DL2:NM_006737:exon6:c.968_969del:p.W323Sfs*62	.	418	1027	76	1	0	78	0.0365854	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	2008.68	307	chr19	54859096	.	TGG	T	2008.68	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-1.186;DP=1064;ExcessHet=1.1394;FS=1.826;MLEAC=3;MLEAF=0.214;MQ=43.56;MQRankSum=-5.98;QD=2.2;ReadPosRankSum=1.01;SOR=0.812	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:202,31:233:99:0|1:54859096_TGG_T:694,0,8368:54859096	4	0	3	0
chr19	54859099	54859099	-	AT	exonic	KIR3DL2	.	frameshift insertion	KIR3DL2:NM_006737:exon6:c.970_971insAT:p.P324Hfs*20	.	419	1023	79	1	0	81	0.0380818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	2008.68	307	chr19	54859099	.	C	CAT	2008.68	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-1.502;DP=1063;ExcessHet=1.1394;FS=1.826;MLEAC=3;MLEAF=0.214;MQ=43.38;MQRankSum=-5.98;QD=2.2;ReadPosRankSum=1.2;SOR=0.812	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:202,31:233:99:0|1:54859096_TGG_T:694,0,8368:54859096	4	0	3	0
chr19	54859126	54859126	T	A	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_006737:exon6:c.T997A:p.S333T	.	422	1024	75	1	0	77	0.0362353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.000592853644405	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.969e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	0.952	0.02603	T	0.002	0.09854	B	0.008	0.13708	B	.	.	.	.	1	0.08975	N	-1.145	0.00921	N	7.11	0.00444	T	1.51	0.00728	N	0.047	0.01911	-0.9540	0.40274	T	0.000	0.00114	T	9	0.020475209	0.00472	T	5.93E-4	0.00260	T	0.058	0.16647	0.251	0.18912	0.0482279557977	0.04254	0.03848246725599166	0.03794	1.5778815892	0.88350	0.446997404099	0.31534	T	0.001513	0.00960	T	-0.446873	0.01178	T	-0.879678	0.00656	T	0.0579299394948747	0.06839	T	.	.	.	0.035080478	0.04062	0.03344365	0.02239	0.035080478	0.04062	0.03344365	0.02239	-2.536	0.06032	T	.	.	0.060	0.00949	B	.	.	-0.849207	0.01014	0.042	0.38981453092339813	0.02662	0.00032	0.00291	N	AEFGBI	0.016009	0.00335	N	-2.17322769998613	0.00088	0.003762631	-2.19645317612939	0.00114	0.005011955	0.249042233931105	0.18659	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.851	-1.7	0.07721	-2.450000	0.01084	.	.	-2.250000	0.00337	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2879:0.2416:0.223:0.2475	0.066	0.00016	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2143	1930.72	277	chr19	54859126	.	T	A	1930.72	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-1.72;DP=979;ExcessHet=1.1394;FS=2.94;MLEAC=3;MLEAF=0.214;MQ=42.6;MQRankSum=-4.935;QD=2.36;ReadPosRankSum=4.2;SOR=0.532	GT:AD:DP:GQ:PL	0/1:179,29:208:99:671,0,4676	4	0	3	0
chr19	54865810	54865810	T	C	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.T955C:p.C319R,KIR3DL2:NM_006737:exon7:c.T1006C:p.C336R	.	403	855	264	0	0	264	0.133739	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.00110318286967	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs796466301	7.457e-05	0.0011	7.798e-05	7.115e-05	0.0002	6.259e-05	5.845e-05	9.469e-05	7.503e-05	0.0001	0.0002	0.0002	5.078e-05	0	0	6.593e-05	3.482e-05	0.0002	0	3.285e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.134	0.26300	T	0.451	0.12920	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999999	0.08975	N	-1.04	0.01097	N	7.31	0.00423	T	0.16	0.05217	N	0.083	0.10769	-0.9760	0.35904	T	0.001	0.00188	T	8	0.04906112	0.04441	T	0.001103	0.01312	T	0.009	0.00846	0.442	0.49811	0.119812018005	0.11559	0.09452283820028774	0.09384	2.56269628182	0.97972	0.333641290665	0.15483	T	7.89E-4	0.00376	T	-0.415095	0.01840	T	-0.834032	0.01193	T	0.059155964491615	0.07034	T	.	.	.	0.106677674	0.25223	0.1821225	0.41119	0.106677674	0.25223	0.1821225	0.41119	1.528	0.00757	T	.	.	0.054	0.02639	B	.;.	.;.	-0.404554	0.02196	0.218	0.45649119719455972	0.03599	0.00039	0.00329	N	AEFBI	0.015175	0.00277	N	-1.72878488187199	0.00744	0.03215037	-1.79035493063549	0.00791	0.03527497	4.27305037267331E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.609	-0.763	0.10475	-1.665000	0.02067	.	.	-1.747000	0.00693	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3333	11033.2	173	chr19	54865810	.	T	C	11033.2	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-0.498;DP=897;ExcessHet=2.5225;FS=3.367;MLEAC=4;MLEAF=0.333;MQ=57.82;MQRankSum=-8.299;QD=13.54;ReadPosRankSum=1.77;SOR=0.478	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:103,58:161:99:0|1:54865794_T_C:2125,0,4150:54865794	2	0	4	1
chr19	54865825	54865825	G	A	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.G970A:p.V324I,KIR3DL2:NM_006737:exon7:c.G1021A:p.V341I	.	402	857	263	0	0	263	0.13303	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.00055253107299	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796782943	6.843e-07	1.368e-06	0	1.376e-06	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	6.575e-06	6.567e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.164	0.24468	T	0.419	0.14158	T	0.002	0.09854	B	0.01	0.14941	B	.	.	.	.	1	0.08975	N	1.11	0.28643	L	7.18	0.00448	T	-0.21	0.10656	N	0.072	0.04547	-0.9746	0.36213	T	0.001	0.00348	T	9	0.07256496	0.10849	T	5.53E-4	0.00208	T	0.008	0.00669	0.367	0.37524	0.241078983079	0.23725	0.04157770004610267	0.04102	0.0027843863192	0.00238	0.408555775881	0.26256	T	0.002608	0.01994	T	-0.428714	0.01509	T	-0.853595	0.00915	T	0.0821466851244207	0.10259	T	.	.	.	0.022919703	0.00990	0.029417474	0.01278	0.022919703	0.00989	0.029417474	0.01278	-3.748	0.20029	T	.	.	0.070	0.08033	B	.;.	.;.	-1.320914	0.00420	0.008	0.32275471755800766	0.01862	0.00127	0.00790	N	AEFBI	0.021088	0.00901	N	-1.46961496636215	0.02067	0.09089394	-1.60118741659373	0.01648	0.07480784	3.08807583727834E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	-1.58	0.08029	-0.835000	0.04494	.	.	-0.482000	0.05067	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.5465:0.0:0.4535:0.0	3.986	0.09005	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3333	10790.2	177	chr19	54865825	.	G	A	10790.2	.	AC=4;AF=0.333;AN=12;BaseQRankSum=0.734;DP=920;ExcessHet=2.5225;FS=2.565;MLEAC=4;MLEAF=0.333;MQ=57.94;MQRankSum=-8.33;QD=12.91;ReadPosRankSum=1.81;SOR=0.525	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:101,56:157:99:0|1:54865794_T_C:2047,0,4072:54865794	2	0	4	1
chr19	54865847	54865847	T	C	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.T992C:p.V331A,KIR3DL2:NM_006737:exon7:c.T1043C:p.V348A	.	401	853	268	0	0	268	0.135765	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.000400803919065	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1224475740	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.162	0.29823	T	0.986	0.02387	T	0.98	0.59353	D	0.966	0.71341	D	0.029014	0.01695	N	4.101880	1	0.08975	N	0.395	0.12235	N	7.27	0.00437	T	-0.92	0.24676	N	0.126	0.11912	-0.9172	0.45931	T	0.002	0.00585	T	10	0.07284033	0.10928	T	4.01E-4	0.00071	T	0.065	0.18881	0.494	0.58206	0.0297737177859	0.01360	0.06284081072503588	0.06223	0.00213134346531	0.00180	0.403696119785	0.25583	T	0.001044	0.00572	T	-0.400058	0.02313	T	-0.812432	0.01611	T	0.139050558209419	0.16193	T	.	.	.	0.031689838	0.03054	0.03537673	0.02778	0.031689838	0.03053	0.03537673	0.02778	-6.306	0.48770	T	.	.	0.101	0.17488	B	.;.	.;.	0.454312	0.08244	4.984	0.26484307624393894	0.01271	0.00052	0.00397	N	AEFBI	0.015930	0.00328	N	-1.33586624352162	0.03274	0.1459584	-1.54872497766398	0.01985	0.0906649	1.28470643324931E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	-1.58	0.08029	-0.401000	0.07293	.	.	-0.458000	0.05121	0.000000	0.06391	0.000000	0.08366	0.033000	0.13494	0.0:0.5995:0.0:0.4005	5.878	0.18089	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3333	10604.2	181	chr19	54865847	.	T	C	10604.2	.	AC=4;AF=0.333;AN=12;BaseQRankSum=3.01;DP=935;ExcessHet=2.5225;FS=2.595;MLEAC=4;MLEAF=0.333;MQ=57.92;MQRankSum=-8.505;QD=12.43;ReadPosRankSum=1.13;SOR=0.832	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:100,59:159:99:0|1:54865794_T_C:2176,0,4021:54865794	2	0	4	1
chr19	54865852	54865852	T	A	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.T997A:p.F333I,KIR3DL2:NM_006737:exon7:c.T1048A:p.F350I	.	399	856	267	0	0	267	0.134917	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.000552976428505	.	.	8.242e-06	0	0	0	0	1.5e-05	0	0	6.5e-06	1	154602	rs2915986	3.52e-06	3.467e-06	4.204e-06	2.829e-06	3.699e-06	1.03e-06	7.5e-07	8.7e-07	5.8e-07	0	0	0	0	0	0	3.699e-06	1.7e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.520826	0.11743	N	0.610798	1	0.08975	N	-2.095	0.00157	N	7.34	0.00418	T	2.41	0.00335	N	0.177	0.19055	-0.9514	0.40730	T	0.000	0.00075	T	10	0.028288513	0.00963	T	5.53E-4	0.00208	T	0.025	0.05312	0.361	0.36548	0.0401082797425	0.02173	0.037563278247634765	0.03702	0.00194719441549	0.00165	0.439581662416	0.30520	T	0.002307	0.01700	T	-0.359524	0.04156	T	-0.754208	0.03325	T	0.102266789170519	0.12604	T	.	.	.	0.029341966	0.02414	0.027775709	0.00957	0.029341966	0.02413	0.027775709	0.00957	1.774	0.00144	T	.	.	0.031	0.00001	B	.;.	.;.	-1.192069	0.00539	0.013	0.21394745277116367	0.00813	0.00027	0.00265	N	AEFBI	0.015044	0.00268	N	-2.17185589876208	0.00089	0.003788383	-2.12745077528888	0.00162	0.00713515	4.11374997373906E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	-0.556	0.11213	-3.473000	0.00511	.	.	-1.423000	0.01123	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.3789:0.3119:0.0:0.3092	1.833	0.02945	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3333	10760.2	184	chr19	54865852	.	T	A	10760.2	.	AC=4;AF=0.333;AN=12;BaseQRankSum=0.709;DP=942;ExcessHet=2.5225;FS=1.848;MLEAC=4;MLEAF=0.333;MQ=57.93;MQRankSum=-8.551;QD=12.5;ReadPosRankSum=0.389;SOR=0.847	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:99,58:157:99:0|1:54865794_T_C:2137,0,3982:54865794	2	0	4	1
chr19	54865864	54865864	C	A	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.C1009A:p.L337I,KIR3DL2:NM_006737:exon7:c.C1060A:p.L354I	.	400	855	267	0	0	267	0.135053	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.000772956067362	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1296399738	8.417e-06	0.0011	1.256e-05	4.23e-06	7.065e-05	4.49e-06	3.55e-06	1.874e-05	1.019e-05	0	7.065e-05	0	0	1.911e-05	0	3.683e-06	0	4.841e-05	0	2.628e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.509	0.07521	T	1.0	0.01155	T	0.01	0.15535	B	0.009	0.14300	B	0.025651	0.01634	N	972.142000	1	0.08975	N	-0.22	0.03977	N	6.79	0.00488	T	1.13	0.01297	N	0.193	0.21188	-0.8671	0.50746	T	0.001	0.00287	T	10	0.037043363	0.02035	T	7.73E-4	0.00568	T	0.013	0.01715	0.474	0.55020	0.0551355673512	0.04727	0.03483597995631442	0.03430	0.00231030591297	0.00198	0.440028011799	0.30580	T	0.003421	0.02829	T	-0.38056	0.03091	T	-0.784425	0.02323	T	0.24141052365303	0.22484	T	.	.	.	0.02956708	0.02474	0.027299805	0.00872	0.02956708	0.02473	0.027299805	0.00872	-2.832	0.08482	T	.	.	0.067	0.02428	B	.;.	.;.	-1.733188	0.00181	0.003	0.39800349715696198	0.02769	0.00031	0.00285	N	AEFBI	0.015044	0.00268	N	-2.51786959481438	0.00014	0.0006260781	-2.5670260733213	0.00016	0.0007120855	0.00421926217040744	0.10461	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.756	-1.51	0.08207	-0.986000	0.03857	.	.	-4.822000	0.00020	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4531:0.5469:0.0:0.0	6.404	0.20859	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3333	10694.2	180	chr19	54865864	.	C	A	10694.2	.	AC=4;AF=0.333;AN=12;BaseQRankSum=0.957;DP=920;ExcessHet=2.5225;FS=1.162;MLEAC=4;MLEAF=0.333;MQ=57.99;MQRankSum=-7.626;QD=12.76;ReadPosRankSum=-0.519;SOR=0.831	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:94,57:151:99:0|1:54865794_T_C:2110,0,3775:54865794	2	0	4	1
chr19	54865870	54865870	C	T	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.C1015T:p.L339F,KIR3DL2:NM_006737:exon7:c.C1066T:p.L356F	.	404	855	263	0	0	263	0.1333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.000653011748056	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1338748485	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.749	0.05152	T	0.137	0.33894	T	0.999	0.77913	D	0.993	0.81110	D	0.959071	0.07705	U	1.034180	1	0.08975	N	1.67	0.42885	L	6.68	0.00576	T	-0.57	0.19297	N	0.144	0.15888	-0.9404	0.42552	T	0.004	0.01470	T	10	0.067382395	0.09379	T	6.53E-4	0.00350	T	0.046	0.12618	0.447	0.50629	0.0482279557977	0.04254	0.03706772757247262	0.03653	0.00235242544378	0.00204	0.419023424387	0.27702	T	0.010928	0.09812	T	-0.282597	0.10395	T	-0.643707	0.09401	T	0.149730133327665	0.17082	T	.	.	.	0.029493352	0.02453	0.034858517	0.02630	0.029493352	0.02453	0.034858517	0.02630	-4.814	0.34754	T	.	.	0.092	0.13362	B	.;.	.;.	0.692112	0.10608	7.311	0.86832300325457512	0.16803	0.00214	0.01215	N	AEFBI	0.025492	0.01754	N	-1.08763022436649	0.06870	0.3175028	-1.36423289139558	0.03641	0.1702588	3.46547822766471E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	-1.58	0.08029	-0.403000	0.07275	.	.	-0.690000	0.04136	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.414:0.3227:0.2634	2.405	0.04140	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3333	10341.2	176	chr19	54865870	.	C	T	10341.2	.	AC=4;AF=0.333;AN=12;BaseQRankSum=1.96;DP=901;ExcessHet=2.5225;FS=1.159;MLEAC=4;MLEAF=0.333;MQ=58.11;MQRankSum=-7.569;QD=12.6;ReadPosRankSum=-1.403;SOR=0.771	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:89,56:145:99:0|1:54865794_T_C:2084,0,3569:54865794	2	0	4	1
chr19	54865885	54865885	T	C	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.T1030C:p.Y344H,KIR3DL2:NM_006737:exon7:c.T1081C:p.Y361H	.	413	843	266	0	0	266	0.13627	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.000928668473944	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs2915987	4.899e-06	0.0012	8.359e-06	1.406e-06	6.971e-05	2.04e-06	1.31e-06	1.849e-05	1.012e-05	0	6.971e-05	0	2.532e-05	0	0	1.838e-06	0	1.202e-05	6.588e-06	7.887e-05	0	1.349e-05	2.418e-05	0	0	.	.	2.418e-05	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	0.639	0.06992	T	0.001	0.07471	B	0.004	0.10090	B	0.000834	0.00693	N	964.490000	1	0.08975	N	-1.885	0.00247	N	7.23	0.00430	T	2.95	0.00151	N	0.108	0.11054	-0.9038	0.47583	T	0.000	0.00114	T	10	0.02607575	0.00783	T	9.29E-4	0.00911	T	0.052	0.14661	0.509	0.60540	0.0806252709748	0.07271	0.05856973815727529	0.05797	0.00203136714976	0.00170	0.461200088263	0.33475	T	0.002548	0.01934	T	-0.543293	0.00320	T	-0.842333	0.01064	T	0.055993546621464	0.06523	T	.	.	.	0.01972407	0.00509	0.030124722	0.01429	0.01972407	0.00508	0.030124722	0.01428	-0.36	0.01497	T	.	.	0.058	0.01810	B	.;.	.;.	-1.085193	0.00658	0.018	0.29891803236966757	0.01608	0.00013	0.00170	N	AEFBI	0.013335	0.00174	N	-2.32571740057804	0.00040	0.001704577	-2.25685884815932	0.00083	0.003659575	2.27817266838019E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	-0.356	0.11957	-0.520000	0.06338	.	.	-3.331000	0.00095	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.7076:0.0:0.2924	4.953	0.13373	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3333	8983.25	149	chr19	54865885	.	T	C	8983.25	.	AC=4;AF=0.333;AN=12;BaseQRankSum=2.89;DP=827;ExcessHet=3.1439;FS=1.174;MLEAC=4;MLEAF=0.333;MQ=57.96;MQRankSum=-7.578;QD=11.99;ReadPosRankSum=-1.451;SOR=0.807	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:84,49:133:99:0|1:54865794_T_C:1805,0,3380:54865794	2	0	4	1
chr19	54865888	54865888	C	T	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.C1033T:p.R345C,KIR3DL2:NM_006737:exon7:c.C1084T:p.R362C	.	413	854	255	0	0	255	0.129903	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.00070768877162	.	.	8.387e-06	0	0	0	0	1.53e-05	0	0	1.29e-05	2	154602	rs138402445	1.848e-05	1.847e-05	1.635e-05	2.064e-05	2.988e-05	1.266e-05	1.085e-05	1.461e-05	1.227e-05	2.988e-05	0	0	0	1.881e-05	0	2.159e-05	1.656e-05	0	6.58e-06	6.569e-06	0	1.347e-05	1.472e-05	0	0	.	.	0	0	0	0	0	0	0	1.472e-05	0	0	0.049	0.50676	D	0.045	0.49390	D	0.998	0.73220	D	0.724	0.55036	P	0.003128	0.00941	U	719.913000	1	0.08975	N	2.18	0.61292	M	7.01	0.00466	T	-3.01	0.62518	D	0.177	0.25253	-0.9256	0.44772	T	0.005	0.01506	T	10	0.2351507	0.40570	T	7.08E-4	0.00454	T	0.076	0.22200	0.608	0.74063	0.377274123778	0.37341	0.04899285126321561	0.04842	0.00201032243671	0.00170	0.345741182566	0.17292	T	0.083108	0.36978	T	-0.280145	0.10652	T	-0.57654	0.14856	T	0.0767469108104706	0.09565	T	.	.	.	0.090401374	0.21151	0.072761305	0.15734	0.090401374	0.21151	0.072761305	0.15734	-5.468	0.41568	T	.	.	0.101	0.17488	B	.;.	.;.	1.700358	0.21659	15.29	0.78131642950480018	0.12168	0.00252	0.01388	N	AEFBI	0.036619	0.04908	N	-0.596483761697517	0.19051	0.9940639	-0.847282888163348	0.13353	0.6922374	2.43691630828497E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	0.792	0.17769	-0.462000	0.06781	.	.	-0.557000	0.04870	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:1.0:0.0:0.0	4.875	0.13011	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3333	8960.25	149	chr19	54865888	.	C	T	8960.25	.	AC=4;AF=0.333;AN=12;BaseQRankSum=2.33;DP=820;ExcessHet=3.1439;FS=0.558;MLEAC=4;MLEAF=0.333;MQ=57.94;MQRankSum=-7.578;QD=12.08;ReadPosRankSum=-1.934;SOR=0.79	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:82,49:131:99:0|1:54865794_T_C:1811,0,3272:54865794	2	0	4	1
chr19	54865893	54865893	G	C	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.G1038C:p.W346C,KIR3DL2:NM_006737:exon7:c.G1089C:p.W363C	.	419	848	255	0	0	255	0.130702	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.000545132984031	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs150217832	6.846e-07	6.84e-07	1.362e-06	0	8.998e-07	0	0	.	.	0	0	0	0	0	0	8.998e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.055	0.48080	T	0.999	0.77913	D	0.995	0.83170	D	0.004823	0.01046	U	6.630260	0.999999	0.08975	N	2.65	0.77586	M	7.12	0.00449	T	-8.3	0.96976	D	0.417	0.45709	-0.9378	0.42963	T	0.005	0.01578	T	10	0.46326482	0.59415	T	5.45E-4	0.00196	T	0.087	0.25287	0.69	0.82748	0.115124310173	0.11017	0.06623851051609898	0.06562	0.0020945074082	0.00176	0.531311154366	0.43219	T	0.117344	0.43737	T	-0.156731	0.27265	T	-0.46291	0.26281	T	0.919087171554565	0.57763	D	.	.	.	0.27311128	0.50379	0.25889528	0.51629	0.27311128	0.50379	0.25889528	0.51629	-5.179	0.48189	T	.	.	0.297	0.52760	B	.;.	.;.	1.876161	0.23830	16.17	0.96792341091729295	0.31116	0.02255	0.06527	N	AEFBI	0.039311	0.05691	N	-0.326071486107245	0.28160	1.550996	-0.608238508299626	0.19282	1.03379	2.43691630828497E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	0.792	0.17769	0.848000	0.27362	.	.	0.413000	0.20698	0.222000	0.24557	0.000000	0.08366	0.017000	0.10941	0.0:0.0:1.0:0.0	4.875	0.13011	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3333	8502.25	149	chr19	54865893	.	G	C	8502.25	.	AC=4;AF=0.333;AN=12;BaseQRankSum=2.54;DP=787;ExcessHet=3.1439;FS=1.185;MLEAC=4;MLEAF=0.333;MQ=57.92;MQRankSum=-7.514;QD=12.01;ReadPosRankSum=-1.557;SOR=0.815	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:78,48:126:99:0|1:54865794_T_C:1781,0,3107:54865794	2	0	4	1
chr19	54866420	54866420	C	G	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon7:c.C1105G:p.Q369E,KIR3DL2:NM_006737:exon8:c.C1156G:p.Q386E	.	420	771	331	0	0	331	0.176722	0.0001	0.016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.000487258690266	.	.	.	.	.	.	.	.	.	.	0.0002305	6	26028	rs973541788	6.841e-07	8.893e-06	0	1.375e-06	2.519e-05	0	0	.	.	0	0	0	2.519e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-1.08	0.01032	N	7.15	0.00440	T	1.42	0.00936	N	0.047	0.01911	-0.9881	0.33077	T	0.000	0.00114	T	9	0.028343678	0.00967	T	4.87E-4	0.00143	T	0.019	0.03383	0.432	0.48171	0.139678290688	0.13603	0.030255114197267258	0.02974	0.00231557063093	0.00198	0.46007502079	0.33320	T	0.001004	0.00540	T	-0.420253	0.01704	T	-0.841441	0.01077	T	0.0475666406958597	0.05065	T	.	.	.	0.048541624	0.08476	0.04803189	0.07048	0.048541624	0.08476	0.04803189	0.07048	-3.597	0.17813	T	.	.	0.049	0.00120	B	.;.	.;.	-0.208194	0.03048	0.471	0.46700175483676853	0.03761	0.00016	0.00195	N	AEFBI	0.016061	0.00339	N	-1.82336724726666	0.00490	0.02110744	-1.81317678004361	0.00718	0.0319862	2.83414617026636E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.05	-1.86	0.07340	0.363000	0.20037	.	.	-0.318000	0.05900	0.220000	0.24536	0.000000	0.08366	0.002000	0.04165	0.0:0.5951:0.4049:0.0	6.644	0.22116	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3571	8695.11	187	chr19	54866420	.	C	G	8695.11	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-2.678;DP=1033;ExcessHet=4.7409;FS=14.973;MLEAC=5;MLEAF=0.357;MQ=57.03;MQRankSum=-12.73;QD=9.02;ReadPosRankSum=1.25;SOR=0.344	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:103,29:132:99:0|1:54866416_T_C:908,0,4238:54866416	2	0	5	0
chr19	54866533	54866533	A	T	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon8:c.A1119T:p.E373D,KIR3DL2:NM_006737:exon9:c.A1170T:p.E390D	.	420	1022	80	0	0	80	0.0376648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.000605757839165	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs372092512	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.432	0.13634	T	0.989	0.62824	D	0.977	0.73820	D	.	.	.	.	1	0.08975	N	1.455	0.36767	L	7.15	0.00448	T	-1.33	0.33197	N	0.032	0.07535	-0.8872	0.49172	T	0.003	0.00832	T	9	0.09381515	0.16631	T	6.06E-4	0.00274	T	0.049	0.13647	0.278	0.23164	0.309530620856	0.30565	0.04776419956839925	0.04719	0.00263683917289	0.00224	0.397166699171	0.24675	T	0.009012	0.08229	T	-0.310709	0.07687	T	-0.684088	0.06738	T	0.0624436335153859	0.07548	T	.	.	.	0.069478154	0.15226	0.052691333	0.08732	0.069478154	0.15226	0.052691333	0.08731	-5.991	0.46204	T	.	.	0.123	0.25914	B	.;.	.;.	1.370321	0.17801	13.38	0.9555976710174543	0.27236	0.00357	0.01833	N	AEFBI	0.023672	0.01352	N	-0.665085175571445	0.17022	0.8724157	-0.948421509682792	0.10960	0.5553993	3.55301781292242E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.4	-2.23	0.06539	0.255000	0.18102	.	.	0.660000	0.55035	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.3911:0.0:0.0:0.6089	3.962	0.08909	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2143	1975.73	295	chr19	54866533	.	A	T	1975.73	.	AC=3;AF=0.214;AN=14;BaseQRankSum=1.63;DP=1546;ExcessHet=1.1394;FS=39.764;MLEAC=3;MLEAF=0.214;MQ=57.48;MQRankSum=-14.52;QD=1.99;ReadPosRankSum=-0.107;SOR=2.966	GT:AD:DP:GQ:PL	0/1:194,28:222:99:246,0,5132	4	0	3	0
chr20	1313405	1313405	G	A	exonic	SDCBP2	.	nonsynonymous SNV	SDCBP2:NM_015685:exon1:c.C64T:p.R22C,SDCBP2:NM_001199784:exon5:c.C319T:p.R107C,SDCBP2:NM_080489:exon5:c.C319T:p.R107C	.	413	1107	2	0	0	2	0.000902527	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.808	.	0.0034	0.00359425	0.0016	0.0150	0.0011	0	0	0.0005	0	0.0002	0.0012096	187	154602	rs35578871	0.0005	0.0005	0.0005	0.0005	0.0095	0.0004	0.0004	0.0086	0.0083	0.0095	0.0013	0.0003	0	0	0.0024	0.0002	0.0012	0.0002	0.0030	0.0030	0.0032	0.0028	0.0096	0.0028	0.0027	0.0088	0.0085	0.0096	0	0.0017	0	0	0	0	0.0003	0.0033	0.0002	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.995	0.83170	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.175	0.88760	M	-0.77	0.73523	T	-7.5	0.95045	D	0.888	0.88687	0.272	0.87110	D	0.542	0.83108	D	10	0.01650852	0.00348	T	.	.	.	0.808	0.93777	.	.	0.898119543785	0.89710	0.7001828903545003	0.69959	0.758343657554	0.64120	0.545608282089	0.45238	T	0.512488	0.82792	D	0.033	0.56149	T	0.284308	0.87357	D	0.106504415603237	0.13058	T	0.891311	0.63049	D	0.82811403	0.85772	0.6405086	0.78998	0.82811403	0.85773	0.6405086	0.78999	-10.55	0.77998	D	.	.	0.422	0.69354	A	.;.;.;.	.;.;.;.	5.512783	0.91698	32	0.99929766071548276	0.99279	0.92559	0.55996	D	AEFDBCI	0.718048	0.66936	D	0.747330221356873	0.82729	7.835478	0.685632782837829	0.81289	7.491653	0.999999999999979	0.74766	0.685219	0.55550	0	0.61073	0.52368	0	0.674405	0.61402	0	0.604282	0.37693	0	.	.	5.01	5.01	0.66477	3.328000	0.51766	9.588000	0.81041	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	15.861	0.78806	887	0.27948	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005045	0.010204	0.009511	0.000000	0.000000	0.008621	0.000000	0.000000	0.07143	287.53	35	chr20	1313405	.	G	A	287.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.619;DP=208;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.91;ReadPosRankSum=0.524;SOR=0.818	GT:AD:DP:GQ:PL	0/1:14,15:29:99:298,0,283	6	0	1	0
chr20	1479846	1479846	G	A	exonic	SIRPB2	.	nonsynonymous SNV	SIRPB2:NM_001122962:exon2:c.C305T:p.T102I	.	428	1092	2	0	0	2	0.000914913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	.	0.0043	0.00359425	0.0018	0.0163	0.0015	0	0	0.0005	0.0011	0.0001	0.0016041	248	154602	rs61732303	0.0007	0.0007	0.0007	0.0006	0.0129	0.0006	0.0006	0.0119	0.0115	0.0129	0.0015	0.0005	0	0	0.0049	0.0003	0.0020	0.0002	0.0039	0.0039	0.0045	0.0033	0.0128	0.0036	0.0035	0.0119	0.0115	0.0128	0	0.0016	0.0003	0	0	0.0034	0.0004	0.0028	0	0.068	0.35726	T	0.004	0.74150	D	0.855	0.47121	P	0.441	0.45749	B	0.973997	0.08139	N	0.985596	1	0.08975	N	3.06	0.86941	M	0.91	0.44856	T	-2.88	0.60507	D	0.293	0.33140	-1.0142	0.25593	T	0.067	0.27708	T	10	0.006865412	0.00156	T	.	.	.	0.070	0.20419	.	.	0.597483089494	0.59428	0.18382480181484606	0.18301	0.27292665473	0.29804	0.458066672087	0.33045	T	0.006609	0.06037	T	-0.547348	0.00303	T	-0.547328	0.17582	T	0.0725343779887123	0.09002	T	0.386161	0.09499	T	0.05641881	0.11096	0.11047982	0.26639	0.05641881	0.11095	0.11047982	0.26639	-4.849	0.35157	T	.	.	0.101	0.17530	B	.	.	1.597101	0.20419	14.74	0.99729661604406616	0.82690	0.02505	0.06995	N	AEFBI	.	.	.	-0.279350325364999	0.29946	1.665287	-0.457306757138337	0.23341	1.272414	0.999729641475076	0.42220	0.562547	0.31514	0	0.563428	0.19063	0	0.573888	0.23631	0	0.635551	0.53088	0	.	.	3.57	1.62	0.22817	0.155000	0.16180	0.444000	0.18454	-0.123000	0.13640	0.000000	0.06391	0.000000	0.08366	0.437000	0.27605	0.2467:0.0:0.7533:0.0	5.719	0.17246	923	0.18507	Immunoglobulin V-set domain|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005035	0.025253	0.006793	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	1026.44	34	chr20	1479846	.	G	A	1026.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.567;DP=262;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=16.04;ReadPosRankSum=0.089;SOR=0.768	GT:AD:DP:GQ:PL	0/1:25,39:64:99:1037,0,631	6	0	1	0
chr20	3165904	3165904	C	T	exonic	LZTS3	.	nonsynonymous SNV	LZTS3:NM_001282533:exon4:c.G916A:p.G306S,LZTS3:NM_001365618:exon4:c.G916A:p.G306S,LZTS3:NM_001367609:exon4:c.G1006A:p.G336S	.	414	1054	49	5	0	59	0.0272266	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	.	0.0019	0.00519169	0.0067	0.0006	0.0018	0	0.0007	0.0033	0.0050	0.0314	0.0054333	840	154602	rs140477946	0.0045	0.0044	0.0036	0.0054	0.0297	0.0044	0.0043	0.0288	0.0284	0.0005	0.0014	0.0007	2.52e-05	0.0008	0.0127	0.0030	0.0054	0.0297	0.0025	0.0025	0.0021	0.0030	0.0261	0.0023	0.0022	0.0224	0.0210	0.0006	0	0.0014	0.0009	0	0.0004	0.0034	0.0029	0.0043	0.0261	0.52	0.07259	T	0.373	0.16425	T	0.689	0.44725	P	0.111	0.41090	B	0.004405	0.33773	N	0.288136	0.56611	0.31217	N	1.04	0.26193	L	0.89	0.45636	T	-0.13	0.08971	N	0.349	0.46368	-1.0386	0.17740	T	0.047	0.20156	T	10	0.004008025	0.00077	T	.	.	.	0.072	0.21020	.	.	0.171220215726	0.16700	0.5876594097079127	0.58695	0.678647379448	0.59893	0.486045897007	0.36891	T	0.006359	0.05794	T	-0.470693	0.00841	T	-0.427265	0.30247	T	0.00899952433187727	0.00113	T	0.858514	0.54939	D	0.0542011	0.10366	0.062347006	0.12184	0.0542011	0.10365	0.062347006	0.12183	-4.464	0.30414	T	.	.	0.072	0.10400	B	.;.;.;.	.;.;.;.	3.087624	0.41560	21.4	0.99841557339104448	0.92229	0.96822	0.71126	D	AEFDBI	0.413603	0.48321	N	-0.0781342619656111	0.38352	2.244978	0.0820102447336558	0.43643	2.661935	0.999937307179673	0.46732	0.695654	0.57023	0	0.550933	0.16991	0	0.723109	0.80598	0	0.505526	0.08623	0	.	.	5.44	5.44	0.79348	1.929000	0.39744	7.620000	0.62269	0.589000	0.31548	0.999000	0.42656	1.000000	0.68203	0.931000	0.46843	0.0:0.792:0.0:0.208	7.086	0.24438	670	0.60992	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.011078	0.000000	0.005435	0.011696	0.000000	0.043103	0.003049	0.034091	0.2143	2857.71	34	chr20	3165904	.	C	T	2857.71	.	AC=3;AF=0.214;AN=14;BaseQRankSum=1.24;DP=311;ExcessHet=0;FS=0.641;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=18.2;ReadPosRankSum=1.7;SOR=0.776	GT:AD:DP:GQ:PL	1/1:0,50:50:99:1428,150,0	5	1	1	0
chr20	4699380	4699380	G	A	exonic	PRNP	.	nonsynonymous SNV	PRNP:NM_000311:exon2:c.G160A:p.G54S,PRNP:NM_001080121:exon2:c.G160A:p.G54S,PRNP:NM_001080122:exon2:c.G160A:p.G54S,PRNP:NM_001080123:exon2:c.G160A:p.G54S,PRNP:NM_001271561:exon2:c.G71A:p.R24Q,PRNP:NM_183079:exon2:c.G160A:p.G54S	Cerebral amyloid angiopathy, PRNP-related, Autosomal dominant;Creutzfeldt-Jakob disease, Autosomal dominant;Gerstmann-Straussler disease, Autosomal dominant;Huntington disease-like 1, Autosomal dominant;Insomnia, fatal familial, Autosomal dominant;Prion disease with protracted course, Autosomal dominant	7	1485	22	1	7	31	0.00801603	.	.	YES	345429	not_provided|Inherited_prion_disease|Huntington_disease-like_1	MedGen:C3661900|MedGen:C5679775,Orphanet:280400|MONDO:MONDO:0011299,MedGen:C1864112,OMIM:603218,Orphanet:157941	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.578	0.276315076928	.	.	0.0007	0	8.697e-05	0	0	0.0001	0.0022	0.0041	0.0005175	80	154602	rs763524380	0.0004	0.0004	0.0003	0.0006	0.0042	0.0004	0.0004	0.0038	0.0037	0	8.973e-05	0	0	3.753e-05	0.0032	0.0002	0.0008	0.0042	0.0002	0.0002	0.0001	0.0003	0.0027	0.0001	0.0001	0.0016	0.0013	2.416e-05	0	6.581e-05	0	0.0002	0	0.0034	0.0002	0.0009	0.0027	0.002	0.72154	D	0.003	0.76473	D	0.12	0.26678	B	0.086	0.29521	B	0.000002	0.62929	D	0.000000	0.851523	0.35231	D	.	.	.	-2.66	0.91533	D	-2.39	0.52612	N	0.627	0.64137	0.864	0.95202	D	0.793	0.92973	D	10	0.015181363	0.00319	T	0.276315	0.90068	D	0.578	0.82968	.	.	0.994981216392	0.99493	0.4151728927211903	0.41433	0.506295194007	0.48840	0.59368956089	0.52014	T	0.024639	0.18578	T	-0.0232946	0.48383	T	0.193755	0.82780	D	0.0497981607129204	0.05466	T	0.887611	0.81824	D	0.30855614	0.53660	0.32669327	0.58574	0.295937	0.52538	0.33873442	0.59647	-5.95	0.45859	T	0.2822885792093093	0.37778	0.107	0.20819	B	.;.;.;.	.;.;.;.	3.568541	0.50251	22.9	0.99748844167951156	0.84077	0.77247	0.37959	D	AEFDBCI	0.350790	0.44411	N	0.160477855790113	0.49309	3.132762	0.23940818324189	0.52048	3.382491	0.999995817831404	0.74766	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.02	5.02	0.66742	2.567000	0.45619	6.955000	0.57037	0.676000	0.76740	0.746000	0.29090	1.000000	0.68203	0.784000	0.37066	0.0:0.0:1.0:0.0	14.189	0.65167	946	0.12043	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003525	0.000000	0.002717	0.002924	0.000000	0.000000	0.012195	0.000000	0.1429	2924.65	34	chr20	4699380	.	G	A	2924.65	.	AC=2;AF=0.143;AN=14;BaseQRankSum=3.67;DP=428;ExcessHet=0.3476;FS=2.505;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=15.47;ReadPosRankSum=0.088;SOR=0.892	GT:AD:DP:GQ:PL	0/1:34,29:63:99:895,0,879	5	0	2	0
chr20	25206588	25206588	C	A	exonic	ENTPD6	.	nonsynonymous SNV	ENTPD6:NM_001247:exon2:c.C52A:p.Q18K,ENTPD6:NM_001317941:exon2:c.C52A:p.Q18K,ENTPD6:NM_001322378:exon2:c.C52A:p.Q18K,ENTPD6:NM_001322387:exon2:c.C52A:p.Q18K,ENTPD6:NM_001322388:exon2:c.C52A:p.Q18K,ENTPD6:NM_001322391:exon2:c.C52A:p.Q18K,ENTPD6:NM_001322396:exon2:c.C52A:p.Q18K,ENTPD6:NM_001322397:exon2:c.C52A:p.Q18K,ENTPD6:NM_001322390:exon3:c.C52A:p.Q18K	.	434	1076	12	0	0	12	0.00554529	0.0001	0.044	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.00154518060662	0.0018	0.000998403	0.0018	0.0006	0.0016	0	0.0002	0.0025	0.0033	0.0015	0.0017335	268	154602	rs142436071	0.0024	0.0024	0.0024	0.0024	0.0113	0.0023	0.0023	0.0091	0.0083	0.0004	0.0017	0.0011	0	0.0003	0.0113	0.0028	0.0019	0.0014	0.0017	0.0017	0.0019	0.0016	0.0027	0.0015	0.0015	0.0024	0.0023	0.0005	0	0.0024	0.0006	0	9.429e-05	0.0102	0.0027	0.0033	0.0017	0.0	0.91255	D	0.0	0.92824	D	0.039	0.23653	B	0.007	0.14941	B	.	.	.	.	1	0.08975	N	0.805	0.20218	L	2.34	0.29085	T	-0.13	0.10833	N	0.138	0.19325	-1.0299	0.20487	T	0.036	0.15378	T	9	0.0042662323	0.00118	T	0.001545	0.02420	T	0.005	0.00259	.	.	0.211220785272	0.20719	0.5641229491177078	0.56339	0.315935312986	0.33867	0.221197679639	0.01380	T	0.004456	0.07043	T	-0.519268	0.00444	T	-0.522033	0.20088	T	0.00337945774278404	0.00036	T	0.329867	0.16498	T	0.10089398	0.23828	0.08641608	0.20019	0.10089398	0.23828	0.08641608	0.20018	-3.495	0.21584	T	.	.	0.098	0.19800	B	.;.;.;.;.	.;.;.;.;.	1.649775	0.21048	15.03	0.93274077507072517	0.22974	0.06979	0.13005	N	AEFBI	0.060803	0.11579	N	-1.00520981857911	0.08495	0.3985275	-1.06970966526179	0.08301	0.407564	0.787210830464035	0.23951	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	2.75	0.621	0.16817	0.195000	0.16960	0.253000	0.16451	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.082000	0.17360	0.0:0.581:0.2552:0.1638	3.672	0.07811	662	0.61715	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.009567	0.005051	0.005435	0.017544	0.000000	0.000000	0.015244	0.003788	0.07143	336.63	39	chr20	25206588	.	C	A	336.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.584;DP=226;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.02;ReadPosRankSum=0.578;SOR=0.607	GT:AD:DP:GQ:PL	0/1:27,15:42:99:347,0,733	6	0	1	0
chr20	33289971	33289971	A	G	exonic	BPIFB1	.	nonsynonymous SNV	BPIFB1:NM_033197:exon4:c.A344G:p.D115G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.191	0.00552784752353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.0	0.92824	D	1.0	0.90584	D	0.987	0.77487	D	0.000113	0.50451	D	0.085880	0.819233	0.34751	D	2.14	0.59869	M	3.44	0.05375	T	-4.31	0.76576	D	0.678	0.68516	-1.0236	0.22541	T	0.037	0.16160	T	10	0.50894964	0.61983	D	0.005528	0.14258	T	0.191	0.46948	0.593	0.72247	0.509228182784	0.50563	0.4193332324008314	0.41849	0.42942473985	0.43233	0.418913900852	0.27688	T	0.061056	0.31553	T	-0.0789287	0.39890	T	-0.351152	0.39072	T	0.991216540336609	0.81482	D	0.740526	0.36288	T	0.16028467	0.35960	0.21452612	0.46007	0.16028467	0.35959	0.21452612	0.46006	-6.406	0.49556	T	.	.	0.395	0.60942	A	.;.	.;.	4.183921	0.63012	24.5	0.9986758113404216	0.94547	0.89306	0.49691	D	AEFDBI	0.531146	0.55155	D	0.514370334283322	0.67940	5.149063	0.528242101747537	0.69900	5.426536	0.992482549378609	0.32856	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.4	5.4	0.77957	4.117000	0.57623	6.932000	0.56962	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.953000	0.50222	1.0:0.0:0.0:0.0	12.130	0.53239	60	0.97424	Lipid-binding serum glycoprotein, N-terminal;Lipid-binding serum glycoprotein, N-terminal|Lipid-binding serum glycoprotein, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	327.63	33	chr20	33289971	.	A	G	327.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3;DP=209;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.3;ReadPosRankSum=-0.932;SOR=0.892	GT:AD:DP:GQ:PL	0/1:17,12:29:99:338,0,375	6	0	1	0
chr20	34852409	34852409	G	C	exonic	GGT7	.	nonsynonymous SNV	GGT7:NM_001351702:exon11:c.C1449G:p.D483E,GGT7:NM_178026:exon11:c.C1449G:p.D483E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.296	0.0112495980913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.422e-06	6.02e-05	1.362e-06	5.502e-06	2.988e-05	1e-06	7.3e-07	8.4e-07	5.7e-07	2.988e-05	0	0	0	0	0	3.599e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.32141	T	0.012	0.63918	D	0.994	0.66517	D	0.926	0.66095	D	0.000000	0.84330	D	0.000000	0.999841	0.49770	D	2.215	0.62545	M	1.98	0.21865	T	-1.73	0.41046	N	0.499	0.53181	-1.0404	0.17192	T	0.128	0.43585	T	10	0.5826987	0.65938	D	0.01125	0.28682	T	0.296	0.61616	0.689	0.82653	0.228066490088	0.22430	0.82941257752094	0.82899	0.68760950996	0.60391	0.738000631332	0.72679	T	0.103498	0.41220	T	0.0708259	0.60949	D	-0.13604	0.60460	T	0.885277701002196	0.53559	D	0.910309	0.68205	D	0.41792053	0.61953	0.41181666	0.65402	0.41792053	0.61953	0.41181666	0.65402	-4.579	0.31907	T	.	.	0.782	0.76474	P	.	.	5.638633	0.92727	33	0.99733629509333355	0.82975	0.97405	0.74540	D	AEFDBI	0.720442	0.67100	D	0.820974805350757	0.87399	9.204616	0.835720227276759	0.92153	11.26631	0.92021159446374	0.26625	0.732398	0.92422	0	0.709663	0.81188	0	0.743671	0.96076	0	0.567892	0.33627	0	.	.	6.17	6.17	0.99707	4.488000	0.60028	9.966000	0.82830	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0685:0.0:0.9315:0.0	13.996	0.63912	522	0.74218	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	1118.32	66	chr20	34852409	.	G	C	1118.32	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-2.853;DP=740;ExcessHet=11.5949;FS=341.312;MLEAC=7;MLEAF=0.583;MQ=60;MQRankSum=0;QD=1.72;ReadPosRankSum=0.758;SOR=11.219	GT:AD:DP:GQ:PL	0/1:47,27:74:82:82,0,639	0	0	6	1
chr20	36432450	36432450	G	A	exonic	DLGAP4	.	nonsynonymous SNV	DLGAP4:NM_001365621:exon3:c.G733A:p.A245T,DLGAP4:NM_014902:exon3:c.G733A:p.A245T	.	432	1080	10	0	0	10	0.00460829	.	.	.	716943	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.226	.	0.0012	0.00459265	0.0034	0.0001	0.0008	0	0.0002	0.0011	0	0.0198	0.0029754	460	154602	rs146757517	0.0022	0.0022	0.0016	0.0027	0.0203	0.0021	0.0021	0.0195	0.0192	0.0002	0.0008	0.0021	0	0.0003	0.0019	0.0010	0.0025	0.0203	0.0014	0.0014	0.0012	0.0017	0.0188	0.0013	0.0012	0.0157	0.0146	0.0002	0	0.0018	0.0035	0	0.0002	0	0.0011	0.0005	0.0188	0.012	0.56456	D	0.039	0.51112	D	0.975	0.58077	D	0.242	0.38699	B	0.000003	0.62929	D	0.057463	0.99828	0.44722	D	1.61	0.41143	L	1.96	0.22270	T	-1.81	0.42575	N	0.559	0.58373	-1.1068	0.03359	T	0.041	0.17742	T	10	0.009884894	0.00222	T	.	.	.	0.226	0.52472	.	.	0.266724437049	0.26276	0.3645978046822784	0.36373	0.916210507732	0.71246	0.605830073357	0.53727	T	0.051083	0.28780	T	-0.407215	0.02074	T	-0.342117	0.40105	T	0.0655071708820935	0.08005	T	0.882612	0.60317	D	0.19760294	0.41630	0.23671405	0.48950	0.19760294	0.41630	0.23671405	0.48949	-2.838	0.08538	T	.	.	0.110	0.26762	B	.;.;.;.	.;.;.;.	4.323203	0.66182	24.9	0.99890862013597903	0.96513	0.99349	0.94855	D	AEFDBI	0.902671	0.85084	D	0.469863862646862	0.65338	4.809991	0.561769344006739	0.72221	5.775576	0.999998249929805	0.74766	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.24	5.24	0.72863	9.596000	0.97431	9.282000	0.79722	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	17.806	0.88512	590	0.68897	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004532	0.000000	0.000000	0.008824	0.000000	0.000000	0.000000	0.015152	0.07143	729.44	44	chr20	36432450	.	G	A	729.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.555;DP=286;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.79;ReadPosRankSum=-1.875;SOR=0.786	GT:AD:DP:GQ:PL	0/1:47,36:83:99:740,0,1063	6	0	1	0
chr20	41100210	41100210	T	C	exonic	TOP1	.	nonsynonymous SNV	TOP1:NM_003286:exon12:c.T1130C:p.I377T	DNA topoisomerase I, camptothecin-resistant (3)	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.574	0.0834407527716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	5.476e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.385	0.91502	M	0.56	0.54540	T	-3.32	0.66085	D	0.82	0.81559	-0.0985	0.80132	T	0.396	0.74836	T	10	0.9008926	0.89450	D	0.083441	0.74116	D	0.574	0.82742	0.722	0.85673	0.540554013241	0.53707	0.9560339756758913	0.95588	2.80145084336	0.98906	0.859892368317	0.91094	D	0.433276	0.78076	T	0.277652	0.81115	D	0.161051	0.80870	D	0.990620062547804	0.80840	D	0.893211	0.63049	D	0.72673106	0.79539	0.6802238	0.81211	0.72673106	0.79541	0.6802238	0.81212	-7.188	0.55395	T	0.21552924678770424	0.28978	0.700	0.72976	P	.	.	4.638435	0.73819	26.1	0.99864711876054513	0.94276	0.99367	0.95101	D	AEFDBIJ	0.901728	0.84877	D	0.864122058876594	0.89897	10.16446	0.811333328112474	0.90570	10.46782	0.99999999931251	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.27	5.27	0.73797	8.017000	0.88732	7.929000	0.74923	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.488	0.75314	921	0.19240	DNA topoisomerase I, DNA binding, eukaryotic-type|DNA topoisomerase I, eukaryotic-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	69.1	20	chr20	41100210	.	T	C	69.1	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.366;DP=212;ExcessHet=0;FS=33.986;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=2.23;ReadPosRankSum=1.32;SOR=5.159	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:24,7:31:79:0|1:41100207_G_A:79,0,422:41100207	6	0	1	0
chr20	45950261	45950261	T	C	exonic	ZNF335	.	nonsynonymous SNV	ZNF335:NM_022095:exon22:c.A3445G:p.I1149V	.	418	1089	14	1	0	16	0.00729262	.	.	.	208667	not_specified|not_provided|ZNF335-related_disorder	MedGen:CN169374|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.068	0.00899988980791	0.0002	0.00159744	0.0008	9.798e-05	0.0004	0.0001	0	0.0006	0.0013	0.0047	0.0001552	24	154602	rs143113106	0.0006	0.0006	0.0005	0.0008	0.0046	0.0006	0.0006	0.0042	0.0041	9.498e-05	0.0004	4.649e-05	2.549e-05	9.878e-05	0.0030	0.0004	0.0009	0.0046	0.0004	0.0004	0.0003	0.0005	0.0062	0.0003	0.0003	0.0045	0.0039	7.218e-05	0	0.0003	0	0	0	0.0034	0.0003	0.0005	0.0062	0.001	0.78490	D	0.025	0.56192	D	0.985	0.61118	D	0.952	0.69102	D	0.000000	0.84330	D	0.000000	0.999961	0.52935	D	1.795	0.47270	L	3.06	0.08634	T	-0.27	0.11366	N	0.434	0.47301	-1.1076	0.03284	T	0.032	0.13548	T	10	0.008857846	0.00201	T	0.009	0.23702	T	0.068	0.19811	.	.	0.479518371956	0.47582	0.18307421158142345	0.18226	0.60149478984	0.55188	0.62885928154	0.56983	T	0.091753	0.38862	T	-0.450338	0.01124	T	-0.419252	0.31162	T	0.0541689350982694	0.06218	T	0.89771	0.64209	D	0.30317298	0.53187	0.19128355	0.42579	0.30317298	0.53187	0.19128355	0.42578	-3.031	0.10519	T	0.4789466605307448	0.55797	0.151	0.33435	B	.	.	3.886972	0.56536	23.7	0.99916462444390297	0.98449	0.97138	0.72912	D	AEFDBCI	0.594822	0.58961	D	0.484195710313345	0.66168	4.915221	0.509225164700833	0.68609	5.243758	0.999999998580457	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	4.86	4.86	0.62624	7.059000	0.76386	5.089000	0.47337	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0:0.0:1.0	12.606	0.55881	757	0.50970	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.001362	0.000000	0.000000	0.000000	0.006098	0.007576	0.08333	394.27	34	chr20	45950261	.	T	C	394.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.501;DP=211;ExcessHet=0;FS=15.925;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.14;ReadPosRankSum=-1.508;SOR=0.669	GT:AD:DP:GQ:PL	0/1:13,17:30:99:404,0,361	5	0	1	1
chr20	49096393	49096393	G	T	exonic	CSE1L	.	nonsynonymous SNV	CSE1L:NM_001256135:exon24:c.G2703T:p.Q901H,CSE1L:NM_001316:exon25:c.G2871T:p.Q957H	.	437	1018	65	2	0	69	0.0327791	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.179	.	0.0024	0.024361	0.0141	0.0010	0.0257	0.0359	0.0003	0.0038	0.0176	0.0501	0.0133828	2069	154602	rs35367415	0.0069	0.0069	0.0056	0.0082	0.0507	0.0068	0.0068	0.0494	0.0489	0.0005	0.0279	0.0068	0.0239	0.0004	0.0212	0.0024	0.0094	0.0507	0.0083	0.0083	0.0067	0.0100	0.0495	0.0079	0.0078	0.0443	0.0423	0.0007	0.0340	0.0349	0.0058	0.0390	9.422e-05	0.0102	0.0029	0.0038	0.0495	0.021	0.49117	D	0.114	0.36765	T	0.983	0.60381	D	0.838	0.60045	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.16	0.60381	M	0.84	0.47477	T	-1.65	0.40468	N	0.304	0.34336	-0.9840	0.34069	T	0.052	0.22037	T	10	0.0054074824	0.00119	T	.	.	.	0.179	0.44899	0.497	0.58678	.	.	0.5978688690700446	0.59717	0.889622572193	0.70165	0.793845057487	0.81027	T	0.195593	0.55171	T	-0.266501	0.12149	T	-0.118343	0.61938	T	0.0221931226238502	0.00931	T	0.954805	0.82790	D	0.2403951	0.46943	0.22393103	0.47289	0.2403951	0.46943	0.22393103	0.47288	-7.031	0.55689	T	.	.	0.197	0.41962	B	.;.	.;.	3.222032	0.43907	21.8	0.99774940421789449	0.86260	0.99146	0.91905	D	AEFDGBI	0.834112	0.75221	D	0.725296949977188	0.81291	7.487773	0.733458112093696	0.84919	8.427885	0.999992480145087	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.723	0.93126	0	.	.	5.72	4.76	0.60189	6.490000	0.73552	3.450000	0.38440	-0.105000	0.15698	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0704:0.0:0.9296:0.0	14.495	0.67264	888	0.27761	.;Exportin-2, C-terminal	.	.	.	.	rs35367415	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.013092	0.000000	0.006793	0.005848	0.000000	0.008621	0.033537	0.015152	0.07143	524.83	33	chr20	49096393	.	G	T	524.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.15;DP=228;ExcessHet=0;FS=3.724;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.21;ReadPosRankSum=0.863;SOR=0.815	GT:AD:DP:GQ:PL	0/1:34,23:57:99:535,0,783	6	0	1	0
chr20	49257526	49257526	T	C	exonic	ZNFX1	.	nonsynonymous SNV	ZNFX1:NM_021035:exon8:c.A2555G:p.E852G	.	423	1035	61	3	0	67	0.0313524	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.317	.	0.0022	0.0117812	0.0114	0.0007	0.0254	0.0005	0.0003	0.0038	0.0187	0.0489	0.0104785	1620	154602	rs61729993	0.0060	0.0060	0.0047	0.0073	0.0492	0.0059	0.0059	0.0480	0.0475	0.0004	0.0279	0.0069	0.0003	0.0004	0.0217	0.0023	0.0064	0.0492	0.0066	0.0067	0.0053	0.0081	0.0448	0.0063	0.0062	0.0399	0.0380	0.0006	0.0341	0.0345	0.0058	0.0006	9.455e-05	0.0102	0.0027	0.0028	0.0448	0.063	0.41096	T	0.33	0.18560	T	0.551	0.38139	P	0.173	0.35463	B	0.000223	0.47286	D	0.227351	0.999843	0.49770	D	2.405	0.69568	M	-1.93	0.86963	D	-1.46	0.45587	N	0.288	0.32591	-0.3997	0.72036	T	0.298	0.66942	T	10	0.0025114417	0.00038	T	.	.	.	0.317	0.63904	.	.	.	.	0.29978031344141376	0.29891	0.632512752951	0.57180	0.327229678631	0.14515	T	0.022836	0.78826	T	-0.313275	0.07462	T	-0.186269	0.55939	T	0.0239960551402502	0.01144	T	0.794521	0.43681	T	0.09753159	0.22990	0.081096716	0.18402	0.09753159	0.22990	0.081096716	0.18402	-4.766	0.34192	T	.	.	0.082	0.11027	B	.;.;.;.;.	.;.;.;.;.	3.335037	0.45925	22.2	0.99712483391067974	0.81423	0.89728	0.50381	D	AEFBCI	0.444547	0.50139	N	0.0644076902179102	0.44808	2.748149	0.172377636213799	0.48338	3.051171	0.999993072138066	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.87	4.68	0.58319	2.780000	0.47429	3.446000	0.38414	0.665000	0.62972	0.989000	0.36753	1.000000	0.68203	0.128000	0.19490	0.1339:0.0:0.0:0.8661	12.454	0.55031	894	0.26265	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.014099	0.000000	0.004076	0.005848	0.000000	0.008621	0.033537	0.018939	0.07143	1647.44	34	chr20	49257526	.	T	C	1647.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.19;DP=317;ExcessHet=0;FS=0.717;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.84;ReadPosRankSum=0.598;SOR=0.839	GT:AD:DP:GQ:PL	0/1:48,63:111:99:1658,0,1174	6	0	1	0
chr20	49270713	49270713	T	C	exonic	ZNFX1	.	nonsynonymous SNV	ZNFX1:NM_021035:exon3:c.A1099G:p.I367V	.	428	1092	2	0	0	2	0.000914913	.	.	.	2386889	Inborn_genetic_diseases|ZNFX1-related_disorder	MeSH:D030342,MedGen:C0950123|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.177	0.0450363338624	0.0018	0.00139776	0.0018	0	0.0031	0.0001	0	0.0024	0.0011	0.0012	0.0017852	276	154602	rs147045723	0.0020	0.0020	0.0021	0.0020	0.0027	0.0020	0.0020	0.0023	0.0022	0.0002	0.0027	0.0051	0.0003	0.0001	0.0012	0.0022	0.0019	0.0013	0.0016	0.0016	0.0017	0.0014	0.0035	0.0014	0.0014	0.0028	0.0025	0.0004	0	0.0035	0.0061	0.0002	0	0	0.0021	0.0014	0.0006	1.0	0.00964	T	0.906	0.02996	T	0.0	0.02946	B	0.002	0.06944	B	0.089751	0.20411	N	0.538297	0.999966	0.18878	N	2.25	0.63811	M	-1.76	0.86010	D	-0.2	0.10136	N	0.075	0.04913	-0.9587	0.39424	T	0.288	0.65938	T	10	0.0056185126	0.00125	T	0.045036	0.61784	D	0.177	0.44549	.	.	0.399796912067	0.39594	0.23654515537348655	0.23569	0.325724220028	0.34721	0.256007313728	0.04426	T	0.012105	0.10698	T	-0.449385	0.01139	T	-0.415952	0.31539	T	0.0125154127867033	0.00207	T	0.59724	0.23503	T	0.026061611	0.01617	0.034628607	0.02563	0.026061611	0.01617	0.034628607	0.02563	-2.694	0.07253	T	.	.	0.054	0.00368	B	.;.;.;.;.	.;.;.;.;.	-1.198038	0.00532	0.012	0.45390093772023499	0.03559	0.10182	0.15759	N	AEFGBHCI	0.049540	0.08569	N	-1.76818139168855	0.00628	0.0270691	-1.79819495462947	0.00765	0.03411429	0.999999997512976	0.74766	0.722319	0.85440	0	0.672317	0.65289	0	0.608884	0.39905	0	0.735409	0.98432	0	.	.	6.06	-8.76	0.00718	-1.888000	0.01707	-5.619000	0.01654	-1.854000	0.00568	0.001000	0.13787	0.000000	0.08366	0.947000	0.49155	0.0:0.2066:0.076:0.7174	14.904	0.70349	884	0.28482	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001007	0.010101	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	408.83	42	chr20	49270713	.	T	C	408.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.49;DP=252;ExcessHet=0;FS=1.223;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.51;ReadPosRankSum=-0.729;SOR=0.889	GT:AD:DP:GQ:PL	0/1:27,16:43:99:419,0,748	6	0	1	0
chr20	51516834	51516834	C	G	exonic	NFATC2	.	nonsynonymous SNV	NFATC2:NM_001136021:exon3:c.G1222C:p.G408R,NFATC2:NM_001258292:exon3:c.G1222C:p.G408R,NFATC2:NM_001258294:exon3:c.G625C:p.G209R,NFATC2:NM_001258295:exon3:c.G625C:p.G209R,NFATC2:NM_001258296:exon3:c.G625C:p.G209R,NFATC2:NM_001258297:exon3:c.G625C:p.G209R,NFATC2:NM_012340:exon3:c.G1282C:p.G428R,NFATC2:NM_173091:exon3:c.G1282C:p.G428R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.887	0.291469148357	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.619e-05	0.0007	0.0001	7.042e-05	0.0001	8.278e-05	7.817e-05	9.981e-05	9.381e-05	6.002e-05	0	0	5.044e-05	0	0	0.0001	0.0001	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.9	0.83903	M	-0.72	0.72994	T	-7.31	0.94511	D	0.952	0.97095	0.381	0.88810	D	0.611	0.86246	D	10	0.92848086	0.92191	D	0.291469	0.90578	D	0.887	0.96725	0.754	0.88402	0.90210233382	0.90113	0.8239515636362394	0.82352	1.30562062205	0.83120	0.866135060787	0.92011	D	0.671936	0.90273	D	0.39566	0.89663	D	0.330562	0.89533	D	0.997253000736237	0.91125	D	0.999394	0.99801	D	0.9024346	0.91602	0.87273586	0.93055	0.9024346	0.91603	0.87273586	0.93056	-12.284	0.86643	D	.	.	1.0	0.99952	P	.;.;.;.;.;.	.;.;.;.;.;.	5.540515	0.91959	32	0.99941663280488358	0.99797	0.98728	0.86094	D	AEFDBHI	0.897828	0.84044	D	0.916431156634983	0.92541	11.483	0.851822094425726	0.93121	11.83822	0.999999999999247	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.635551	0.53088	0	.	.	5.25	5.25	0.73169	7.900000	0.86025	7.651000	0.63703	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.964000	0.52637	0.0:1.0:0.0:0.0	18.871	0.92287	957	0.09725	.;Rel homology domain (RHD), DNA-binding domain|Rel homology domain (RHD), DNA-binding domain;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	201.99	22	chr20	51516834	.	C	G	201.99	.	AC=2;AF=0.333;AN=6;BaseQRankSum=-0.304;DP=235;ExcessHet=0.3476;FS=136.316;MLEAC=3;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.94;ReadPosRankSum=1.34;SOR=6.868	GT:AD:DP:GQ:PL	0/1:29,14:43:99:195,0,793	1	0	2	4
chr20	62475358	62475358	G	A	exonic	GATA5	.	nonsynonymous SNV	GATA5:NM_080473:exon2:c.C164T:p.P55L	.	.	.	.	.	.	.	.	.	.	.	1457139	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.304	0.981065332207	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.499e-06	1.026e-05	3.438e-06	5.666e-06	3.743e-05	1.32e-06	9.6e-07	1e-06	6.8e-07	0	0	0	3.743e-05	0	0	4.274e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.40832	D	0.047	0.48855	D	0.086	0.24919	B	0.039	0.23607	B	0.978434	0.07824	N	1.011940	1	0.08975	N	1.845	0.48678	L	-4.72	0.98051	D	-0.82	0.22508	N	0.168	0.17828	0.394	0.89001	D	0.847	0.94905	D	10	0.44288504	0.58213	T	0.981065	0.99902	D	0.304	0.62510	0.479	0.55823	0.915442423915	0.91459	0.3105265677269252	0.30965	1.7642981659	0.91166	0.810851216316	0.83624	D	0.733907	0.92574	D	0.0240126	0.54921	T	-0.203284	0.54335	T	0.404512944411207	0.29112	T	0.556944	0.19352	T	0.051487606	0.09463	0.12766229	0.30727	0.051487606	0.09462	0.12766229	0.30726	-4.94	0.36182	T	0.41165251511817896	0.50188	0.076	0.05890	B	.	.	2.994311	0.39986	21.1	0.96758430447267818	0.30990	0.65073	0.32616	D	AEFDGBHCI	0.308199	0.41485	N	-0.424836000786836	0.24601	1.329511	-0.389304999198186	0.25314	1.391394	0.999960793346949	0.48965	0.59774	0.34471	0	0.563428	0.19063	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	3.87	2.83	0.32150	1.951000	0.39958	6.541000	0.55884	0.589000	0.31548	0.776000	0.29426	0.999000	0.35428	0.005000	0.06747	0.1073:0.334:0.5587:0.0	8.203	0.30594	839	0.37672	GATA-type transcription activator, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	675.53	34	chr20	62475358	.	G	A	675.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.76;DP=231;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.99;ReadPosRankSum=-0.623;SOR=0.688	GT:AD:DP:GQ:PL	0/1:25,27:52:99:686,0,514	6	0	1	0
chr20	63328427	63328427	C	T	exonic	COL20A1	.	nonsynonymous SNV	COL20A1:NM_020882:exon34:c.C3710T:p.S1237F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.165	0.0798401402516	.	.	2.706e-05	0	0	0	0	1.632e-05	0	0.0001	1.94e-05	3	154602	rs376331855	2.74e-06	2.736e-06	4.088e-06	1.377e-06	2.323e-05	6.4e-07	4.3e-07	3.86e-06	1.44e-06	0	0	0	0	0	0	1.799e-06	0	2.323e-05	1.313e-05	1.312e-05	1.284e-05	1.342e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.108	0.29420	T	0.083	0.48336	T	0.099	0.28304	B	0.051	0.28532	B	0.008995	0.01226	U	7.789720	1	0.08975	N	1.79	0.46772	L	-2.2	0.91134	D	-1.84	0.44284	N	0.204	0.27554	-0.5114	0.68236	T	0.448	0.78330	T	10	0.112019	0.20998	T	0.07984	0.73326	D	0.165	0.42395	0.246	0.18139	0.77866168353	0.77662	0.5957165252386017	0.59501	0.0387493771281	0.04121	0.28421330452	0.08086	T	0.01141	0.10182	T	-0.202676	0.20419	T	-0.346759	0.39576	T	0.117324806749821	0.14165	T	0.474053	0.15376	T	0.08379955	0.19368	0.15158643	0.35701	0.08379955	0.19367	0.15158643	0.35701	-4.708	0.34568	T	.	.	0.086	0.17911	B	.;.;.;.	.;.;.;.	0.526753	0.08954	5.736	0.97673718480440608	0.35270	0.01601	0.05194	N	AEFDBI	0.048567	0.08300	N	-1.13565024399029	0.06019	0.2760103	-1.16725786421713	0.06463	0.3112114	6.30313624135973E-4	0.07482	0.422189	0.06491	0	0.547309	0.14657	0	0.600433	0.31921	0	0.613276	0.41899	0	.	.	2.73	-0.843	0.10200	-0.780000	0.04759	0.564000	0.19539	0.454000	0.21428	0.000000	0.06391	0.000000	0.08366	0.032000	0.13371	0.2178:0.4852:0.0:0.297	2.915	0.05397	.	.	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	547.44	41	chr20	63328427	.	C	T	547.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.527;DP=244;ExcessHet=0;FS=4.649;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.04;ReadPosRankSum=-0.39;SOR=0.26	GT:AD:DP:GQ:PL	0/1:15,24:39:99:558,0,328	6	0	1	0
chr21	10578378	10578378	G	A	exonic	TPTE	.	nonsynonymous SNV	TPTE:NM_001290224:exon11:c.G484A:p.V162I,TPTE:NM_199260:exon14:c.G784A:p.V262I,TPTE:NM_199259:exon15:c.G844A:p.V282I,TPTE:NM_199261:exon16:c.G898A:p.V300I	.	533	985	4	0	0	4	0.00202634	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.000918950453253	.	.	1.65e-05	0	0	0.0002	0	0	0	0	3.84e-05	1	26028	rs139963428	0.0031	0.0081	0.0032	0.0031	0.0037	0.0031	0.0030	0.0036	0.0035	0.0004	0.0010	0.0027	0.0007	0.0029	0.0010	0.0037	0.0028	0.0003	0.0035	0.0066	0.0037	0.0033	0.0052	0.0033	0.0032	0.0048	0.0046	0.0009	0.0077	0.0050	0.0038	0.0006	0.0034	0	0.0052	0.0028	0	.	.	.	0.24	0.24406	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.273	0.32921	.	.	.	.	.	.	.	0.037695557	0.02140	T	.	.	.	.	.	.	.	.	.	0.8265620422422075	0.82614	.	.	.	.	.	0.133165	0.46368	T	.	.	.	.	.	.	.	.	.	0.567543	0.23442	T	.	.	.	.	.	.	.	.	-4.136	0.25819	T	.	.	0.092	0.13690	B	.;.;.;.	.;.;.;.	0.967870	0.13449	9.956	.	.	.	.	.	.	0.028242	0.02451	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.618000	0.36565	-1.560000	0.05170	-1.524000	0.01001	0.369000	0.25916	0.000000	0.08366	0.020000	0.11549	.	.	.	.	.	.;Dual specificity phosphatase, catalytic domain|Tensin-type phosphatase domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	244.44	34	chr21	10578378	.	G	A	244.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.18;DP=275;ExcessHet=0;FS=1.026;MLEAC=1;MLEAF=0.071;MQ=55.6;MQRankSum=-7.87;QD=2.63;ReadPosRankSum=-0.141;SOR=0.475	GT:AD:DP:GQ:PL	0/1:75,18:93:99:255,0,1760	6	0	1	0
chr21	13610400	13610400	A	G	exonic	POTED	.	nonsynonymous SNV	POTED:NM_174981:exon1:c.A172G:p.R58G	.	422	954	132	14	0	160	0.0773694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	0.00147797239572	.	.	.	.	.	.	.	.	.	.	0.0066851	174	26028	rs200814491	2.492e-05	8.633e-05	1.821e-05	3.157e-05	3.472e-05	1.631e-05	1.393e-05	1.38e-05	1.117e-05	0	0	0	0	5.248e-05	0	2.332e-05	5.701e-05	3.472e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.462	0.36386	P	0.152	0.34249	B	.	.	.	.	1	0.08975	N	2.175	0.60977	M	1.03	0.40469	T	-1.15	0.29525	N	0.041	0.03841	-1.0119	0.26322	T	0.093	0.35390	T	7	0.071079314	0.10429	T	0.001478	0.02267	T	0.070	0.20419	0.258	0.20002	0.043077524339	0.03247	0.05236624517845099	0.05178	.	.	0.467012226582	0.34271	T	0.021951	0.17006	T	-0.340339	0.05364	T	-0.423521	0.30672	T	0.131828456292153	0.15550	T	0.684632	0.29972	T	0.15094694	0.34338	0.18774164	0.42023	0.15094694	0.34338	0.18774164	0.42022	-8.467	0.64211	D	.	.	0.120	0.28578	B	.;.	.;.	1.858254	0.23606	16.08	0.93571275912320728	0.23413	0.00040	0.00335	N	AEFI	0.026967	0.02121	N	-0.883970604830688	0.11224	0.5404707	-1.10778252144765	0.07550	0.3677109	1.09839826763181E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	.	.	.	0.019000	0.13337	.	.	0.134000	0.17662	0.261000	0.24959	0.000000	0.08366	0.014000	0.10232	.	.	.	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2143	7219.72	39	chr21	13610400	.	A	G	7219.72	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-0.716;DP=844;ExcessHet=1.1394;FS=0;MLEAC=3;MLEAF=0.214;MQ=57.86;MQRankSum=0.599;QD=10.3;ReadPosRankSum=-0.546;SOR=0.687	GT:AD:DP:GQ:PL	0/1:70,54:124:99:1224,0,1683	4	0	3	0
chr21	13610565	13610565	G	A	exonic	POTED	.	nonsynonymous SNV	POTED:NM_174981:exon1:c.G337A:p.G113S	.	444	172	461	445	0	1351	0.79705	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.00277741158105	.	.	.	.	.	.	.	.	.	.	0.033169	5128	154602	rs6517869	1.401e-05	6.993e-05	3.992e-06	2.407e-05	6.081e-05	8.13e-06	6.36e-06	1.007e-05	3.77e-06	0	6.081e-05	0	0	5.033e-05	0	8.892e-06	2.573e-05	3.286e-05	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.153	0.24372	T	0.043	0.49942	D	1.0	0.90584	D	0.937	0.67262	D	.	.	.	.	1	0.08975	N	1.15	0.29295	L	1.66	0.27486	T	-1.24	0.31375	N	0.08	0.05542	-0.9968	0.30810	T	0.095	0.35818	T	8	0.068237185	0.09622	T	0.002777	0.05781	T	0.029	0.06676	0.202	0.11659	0.0934897674506	0.08844	0.04415967261073172	0.04359	.	.	0.431079089642	0.29356	T	0.012796	0.11182	T	-0.31698	0.07148	T	-0.693096	0.06212	T	0.036694748014754	0.03102	T	0.636336	0.25008	T	0.046982475	0.07955	0.08034204	0.18165	0.046982475	0.07954	0.08034204	0.18164	-7.591	0.58248	D	.	.	0.092	0.21163	B	.;.	.;.	1.490668	0.19177	14.13	0.9114633486319289	0.20400	0.00123	0.00769	N	AEFI	0.021764	0.01007	N	-0.750059816202474	0.14632	0.7304896	-1.05968458506513	0.08505	0.4185625	1.33632449358699E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.418	-0.732	0.10585	-1.777000	0.01877	.	.	0.323000	0.19410	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	.	.	.	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.6429	21872.1	176	chr21	13610565	.	G	A	21872.1	.	AC=9;AF=0.643;AN=14;BaseQRankSum=2.87;DP=1134;ExcessHet=0.4813;FS=0;MLEAC=9;MLEAF=0.643;MQ=53.69;MQRankSum=-9.205;QD=20.58;ReadPosRankSum=0.352;SOR=0.683	GT:AD:DP:GQ:PL	1/1:0,119:119:99:3594,357,0	1	3	3	0
chr21	13610631	13610631	A	G	exonic	POTED	.	nonsynonymous SNV	POTED:NM_174981:exon1:c.A403G:p.I135V	.	439	188	453	442	0	1337	0.780502	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00179256116657	.	.	.	.	.	.	.	.	.	.	0.175004	4555	26028	rs6517870	0.0002	0.0006	0.0002	0.0002	0.0010	0.0002	0.0002	0.0007	0.0006	0	0.0010	0	0	0.0019	0	0.0001	7.755e-05	3.326e-05	0.0002	0.0008	0.0001	0.0003	0.0011	0.0001	0.0001	0.0006	0.0005	0	0	0.0011	0	0	0.0004	0	8.695e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	P	0.955	0.23872	L	0.69	0.51714	T	0.21	0.04776	N	0.013	0.00142	-1.0463	0.15447	T	0.001	0.00408	T	8	0.01186794	0.00257	T	0.001793	0.03063	T	0.027	0.05988	.	.	0.043077524339	0.03247	0.057245171207421994	0.05665	.	.	0.60823392868	0.54066	T	0.003659	0.03070	T	-0.325257	0.06477	T	-0.704986	0.05557	T	0.0231726184936854	0.01044	T	0.405359	0.11777	T	0.018582096	0.00380	0.026746769	0.00781	0.018582096	0.00379	0.026746769	0.00780	-2.614	0.06610	T	.	.	0.071	0.06571	B	.;.	.;.	-1.090417	0.00652	0.018	0.18791234627756773	0.00606	0.00044	0.00357	N	AEFI	0.015589	0.00305	N	-2.40962434727351	0.00026	0.001112248	-2.38906535767928	0.00042	0.001829696	4.90101459551143E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.29	-2.58	0.05866	-2.318000	0.01202	.	.	-2.102000	0.00394	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5692:0.0:0.4308:0.0	5.628	0.16773	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.012405	0.000000	0.013369	0.016129	0.000000	0.046512	0.000000	0.010417	0.6429	15864.1	124	chr21	13610631	.	A	G	15864.1	.	AC=9;AF=0.643;AN=14;BaseQRankSum=-1.282;DP=916;ExcessHet=0.4813;FS=6.707;MLEAC=9;MLEAF=0.643;MQ=47.47;MQRankSum=-13.36;QD=18.64;ReadPosRankSum=0.419;SOR=1.139	GT:AD:DP:GQ:PL	1/1:0,101:101:99:2983,303,0	1	3	3	0
chr21	13641414	13641414	A	G	exonic	POTED	.	nonsynonymous SNV	POTED:NM_174981:exon11:c.A1603G:p.M535V	.	518	268	324	412	0	1148	0.68171	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.000925184405604	.	.	.	.	.	.	.	.	.	.	0.0332984	5148	154602	rs9980783	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.19293	T	0.265	0.22694	T	0.053	0.22573	B	0.007	0.12992	B	.	.	.	.	0.999995	0.08975	N	1.295	0.32453	L	2.51	0.14284	T	-0.92	0.24676	N	0.112	0.09914	-0.9460	0.41648	T	0.021	0.08870	T	9	0.058576673	0.06907	T	9.25E-4	0.00889	T	0.056	0.15993	0.204	0.11936	0.0675242888579	0.06100	0.017058676146940573	0.01660	.	.	0.862693071365	0.91508	D	0.009423	0.08576	T	-0.65755	0.00065	T	-0.573482	0.15131	T	0.0619566306163236	0.07473	T	0.571043	0.20346	T	0.060948554	0.12567	0.09257506	0.21825	0.060948554	0.12567	0.09257506	0.21824	-3.238	0.12951	T	.	.	0.097	0.15788	B	.	.	0.712273	0.10810	7.493	0.4975947206577841	0.04266	0.04450	0.10053	N	AEFI	0.042990	0.06739	N	-0.991022779855283	0.08795	0.4137322	-1.03117548479235	0.09104	0.4510756	2.3450725238948E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.1	2.1	0.26226	1.579000	0.36145	.	.	0.351000	0.19951	0.307000	0.25387	0.000000	0.08366	0.054000	0.15518	0.8091:0.0:0.1909:0.0	3.884	0.08596	.	.	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5714	10274.3	66	chr21	13641414	.	A	G	10274.3	.	AC=8;AF=0.571;AN=14;BaseQRankSum=-0.137;DP=637;ExcessHet=0.0509;FS=0.569;MLEAC=8;MLEAF=0.571;MQ=58.12;MQRankSum=-2.171;QD=17.56;ReadPosRankSum=-1.248;SOR=0.616	GT:AD:DP:GQ:PL	1/1:0,51:51:99:1443,153,0	2	3	2	0
chr21	29326553	29326553	A	T	exonic	BACH1	.	nonsynonymous SNV	BACH1:NM_001186:exon3:c.A729T:p.E243D,BACH1:NM_206866:exon3:c.A729T:p.E243D	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	.	0.0074	0.00758786	0.0022	0.0252	0.0009	0	0	1.509e-05	0.0011	6.064e-05	0.0020892	323	154602	rs34811108	0.0008	0.0008	0.0008	0.0007	0.0271	0.0007	0.0007	0.0257	0.0251	0.0271	0.0012	0	0	0	0.0007	9.892e-06	0.0022	9.275e-05	0.0067	0.0067	0.0069	0.0065	0.0235	0.0064	0.0062	0.0222	0.0217	0.0235	0	0.0025	0	0	0	0	0	0.0033	0	0.063	0.36709	T	0.648	0.06788	T	0.004	0.12183	B	0.005	0.11217	B	0.004941	0.33255	N	0.302657	0.999998	0.08975	N	1.945	0.52268	M	-0.64	0.72125	T	-1.06	0.27669	N	0.136	0.13341	-1.0834	0.06702	T	0.034	0.14464	T	10	0.003194362	0.00054	T	.	.	.	0.049	0.13647	0.249	0.18602	0.437314048365	0.43349	0.10643558173104822	0.10573	0.0840471645538	0.09481	0.342504680157	0.16813	T	0.151944	0.49212	T	-0.573907	0.00210	T	-0.577557	0.14764	T	0.00260567807047582	0.00027	T	0.626337	0.24237	T	0.0414663	0.06112	0.050882895	0.08078	0.0414663	0.06112	0.050882895	0.08077	-3.469	0.16000	T	.	.	0.071	0.05145	B	.;.	.;.	0.225972	0.06078	2.521	0.96638133294696749	0.30542	0.16647	0.19485	N	AEFBCI	0.077830	0.15690	N	-1.24872823563524	0.04317	0.1945767	-1.22825178002791	0.05460	0.2602406	0.999829478949463	0.43622	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	6.08	-2.97	0.05195	0.182000	0.16710	0.066000	0.14196	-0.653000	0.04380	0.001000	0.13787	0.000000	0.08366	0.259000	0.23493	0.1973:0.233:0.4707:0.099	5.483	0.16026	969	0.06854	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.002717	0.005848	0.000000	0.000000	0.000000	0.000000	0.07143	433.45	33	chr21	29326553	.	A	T	433.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.413;DP=220;ExcessHet=0;FS=6.803;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.57;ReadPosRankSum=2.25;SOR=1.403	GT:AD:DP:GQ:PL	0/1:23,18:41:99:444,0,641	6	0	1	0
chr21	30337413	30337413	G	A	exonic	KRTAP27-1	.	stopgain	KRTAP27-1:NM_001077711:exon1:c.C256T:p.Q86X	.	430	1072	20	0	0	20	0.00924214	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0015	0.000998403	0.0015	0.0003	0.0029	0	0.0002	0.0019	0.0022	0.0013	0.0015718	243	154602	rs144648271	0.0017	0.0017	0.0017	0.0017	0.0076	0.0016	0.0016	0.0058	0.0052	0.0002	0.0022	0.0003	0	0.0004	0.0076	0.0018	0.0016	0.0017	0.0017	0.0017	0.0017	0.0018	0.0058	0.0015	0.0015	0.0048	0.0044	0.0003	0.0121	0.0058	0	0	0.0002	0	0.0020	0.0028	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	0.631278	0.10685	N	0.752745	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.22	0.24634	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0220029	0.48567	T	0.189142	0.82521	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant	High	7.754343	0.96829	36	0.99618946326035362	0.75293	0.21730	0.21504	N	AEFBIJ	0.026725	0.02056	N	0.433101555693606	0.63252	4.555354	0.103250409020266	0.44715	2.747879	0.989846802264893	0.31953	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.12	3.22	0.36041	2.460000	0.44689	5.243000	0.48069	0.618000	0.50648	0.386000	0.26055	0.999000	0.35428	0.142000	0.20019	0.0:0.0:0.7842:0.2158	9.238	0.36640	214	0.91692	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.000000	0.002717	0.005848	0.000000	0.000000	0.012195	0.000000	0.07143	326.63	37	chr21	30337413	.	G	A	326.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.67;DP=258;ExcessHet=0;FS=1.149;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=5.63;ReadPosRankSum=0.862;SOR=0.941	GT:AD:DP:GQ:PL	0/1:43,15:58:99:337,0,1143	6	0	1	0
chr21	32467842	32467842	C	G	exonic	EVA1C	.	nonsynonymous SNV	EVA1C:NM_001320744:exon2:c.C307G:p.P103A,EVA1C:NM_001286556:exon4:c.C628G:p.P210A,EVA1C:NM_001320745:exon4:c.C343G:p.P115A,EVA1C:NM_058187:exon4:c.C628G:p.P210A	.	436	1084	2	0	0	2	0.000921659	.	.	.	2377429	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.107	0.0146199955819	.	0.000199681	0.0004	9.829e-05	0.0010	0	0.0002	0.0002	0	0.0010	0.0002781	43	154602	rs200288953	0.0002	0.0002	0.0001	0.0002	0.0019	0.0002	0.0001	0.0012	0.0012	9.068e-05	0.0008	0	0.0001	3.75e-05	0.0019	6.218e-05	0.0001	0.0015	7.24e-05	7.88e-05	9.014e-05	5.385e-05	0.0004	3.978e-05	3.132e-05	0.0002	0.0001	4.833e-05	0	0.0004	0	0.0002	0	0	0	0	0.0004	0.109	0.35537	T	0.062	0.48855	T	0.96	0.55278	D	0.622	0.51475	P	0.000047	0.53742	D	0.134502	0.995719	0.42821	D	1.715	0.44382	L	2.38	0.15843	T	-2.42	0.53096	N	0.394	0.43514	-1.1290	0.01830	T	0.063	0.26244	T	10	0.038518548	0.02275	T	0.01462	0.34856	T	0.107	0.30369	.	.	0.359357374593	0.35551	0.5502219574021693	0.54948	0.725263596407	0.62439	0.29816454649	0.10128	T	0.009285	0.18521	T	-0.466543	0.00894	T	-0.483467	0.24079	T	0.0726545004273332	0.09018	T	0.823318	0.48387	T	0.07220167	0.16044	0.1151874	0.27804	0.07220167	0.16043	0.1151874	0.27804	-4.776	0.34310	T	.	.	0.069	0.06896	B	.;.;.;.	.;.;.;.	3.384785	0.46838	22.4	0.88907341405279028	0.18352	0.97889	0.77893	D	AEFBI	0.428470	0.49198	N	0.243031310665371	0.53294	3.49903	0.271856052349206	0.53903	3.557092	0.999999999969691	0.74766	0.732398	0.92422	0	0.573888	0.26702	0	0.696353	0.63694	0	0.727631	0.95156	0	.	.	5.61	5.61	0.85347	5.343000	0.65746	5.669000	0.49248	0.596000	0.33519	0.961000	0.33663	0.786000	0.26821	0.038000	0.14061	0.0:1.0:0.0:0.0	19.702	0.96055	884	0.28482	D-galactoside/L-rhamnose binding SUEL lectin domain|D-galactoside/L-rhamnose binding SUEL lectin domain;.;.;D-galactoside/L-rhamnose binding SUEL lectin domain|D-galactoside/L-rhamnose binding SUEL lectin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	160.63	33	chr21	32467842	.	C	G	160.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.71;DP=230;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=6.18;ReadPosRankSum=0.116;SOR=0.693	GT:AD:DP:GQ:PL	0/1:19,7:26:99:171,0,472	6	0	1	0
chr21	33252732	33252732	C	G	exonic	IFNAR2	.	nonsynonymous SNV	IFNAR2:NM_000874:exon7:c.C611G:p.T204R,IFNAR2:NM_001289125:exon7:c.C611G:p.T204R,IFNAR2:NM_001289126:exon7:c.C611G:p.T204R,IFNAR2:NM_001289128:exon7:c.C611G:p.T204R,IFNAR2:NM_001385054:exon7:c.C611G:p.T204R,IFNAR2:NM_001385055:exon7:c.C611G:p.T204R,IFNAR2:NM_207584:exon7:c.C611G:p.T204R,IFNAR2:NM_207585:exon7:c.C611G:p.T204R	.	2	1414	97	9	0	115	0.0390758	.	.	.	705659	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.101	.	0.0028	0.00479233	0.0051	0.0009	0.0036	0	0.0003	0.0050	0.0110	0.0136	0.0046701	722	154602	rs147496374	0.0035	0.0035	0.0030	0.0040	0.0392	0.0034	0.0034	0.0350	0.0334	0.0010	0.0036	0.0165	0	0.0002	0.0392	0.0025	0.0057	0.0130	0.0039	0.0039	0.0037	0.0041	0.0149	0.0036	0.0035	0.0121	0.0111	0.0005	0.0482	0.0054	0.0190	0	0.0002	0.0753	0.0039	0.0085	0.0149	0.161	0.78490	T	0.003	0.76473	D	1.0	0.90584	D	0.999	0.92359	D	0.425033	0.12822	N	0.738962	0.97282	0.38976	D	2.08	0.57402	M	1.31	0.35405	T	-3.11	0.73267	D	0.477	0.53884	-0.9382	0.42900	T	0.135	0.44875	T	10	0.010730058	0.00238	T	.	.	.	0.300	0.62068	.	.	0.764019764511	0.76186	0.7268006199058705	0.72624	0.299378326129	0.32306	0.459942519665	0.33302	T	0.265189	0.63704	T	-0.383608	0.02956	T	-0.312772	0.43360	T	0.0354205092465154	0.02880	T	0.816118	0.47523	T	0.28101838	0.51146	0.3051472	0.56542	0.29832277	0.52754	0.2683962	0.52706	-5.982	0.54933	T	.	.	0.147	0.43200	B	.;.;.;.;.;.	.;.;.;.;.;.	3.085038	0.41513	21.4	0.99482664130514209	0.66959	0.67555	0.33475	D	AEFBI	0.133793	0.25357	N	0.350668498744144	0.58776	4.051906	0.277183829879017	0.54211	3.586691	0.962429835307799	0.28622	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.13	3.23	0.36150	0.371000	0.20182	2.599000	0.33511	0.599000	0.40250	0.990000	0.36992	0.991000	0.31484	0.983000	0.59808	0.0:0.7603:0.2397:0.0	9.699	0.39341	917	0.20147	.;.;Interferon/interleukin receptor domain;.;Interferon/interleukin receptor domain;Interferon/interleukin receptor domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.040282	0.015152	0.033967	0.061404	0.100000	0.094828	0.033537	0.037879	0.1429	884.24	33	chr21	33252732	.	C	G	884.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.577;DP=290;ExcessHet=0.3476;FS=2.315;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=6.85;ReadPosRankSum=0.79;SOR=0.679	GT:AD:DP:GQ:PL	0/1:21,13:34:99:267,0,502	5	0	2	0
chr21	36270020	36270020	C	G	exonic	DOP1B	.	nonsynonymous SNV	DOP1B:NM_001320714:exon27:c.C5495G:p.T1832S,DOP1B:NM_005128:exon27:c.C5495G:p.T1832S	.	421	1087	13	1	0	15	0.00685244	.	.	.	705678	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.149	0.0447626502546	0.0002	0.000998403	0.0014	0	0.0017	0.0006	0.0050	0.0006	0.0022	0.0038	0.001313	203	154602	rs138528690	0.0009	0.0009	0.0008	0.0010	0.0049	0.0009	0.0008	0.0044	0.0042	5.974e-05	0.0049	0.0004	0.0003	0.0044	0.0031	0.0004	0.0011	0.0041	0.0021	0.0021	0.0014	0.0029	0.0132	0.0019	0.0018	0.0117	0.0111	0.0003	0	0.0132	0	0.0002	0.0050	0	0.0004	0.0009	0.0050	0.149	0.24758	T	0.083	0.41405	T	0.966	0.56202	D	0.471	0.46788	P	0.000000	0.84330	D	0.000000	0.999862	0.50061	D	2.035	0.55589	M	-0.18	0.65747	T	-2.14	0.48523	N	0.589	0.60918	-0.6766	0.61529	T	0.288	0.66016	T	10	0.008863568	0.00201	T	0.044763	0.61651	D	0.149	0.39377	0.335	0.32329	0.60525595389	0.60209	0.26668270624954055	0.26581	0.517183748851	0.49591	0.702604174614	0.67520	T	0.219722	0.58281	T	-0.300677	0.08597	T	-0.204549	0.54216	T	0.0632666581784229	0.07672	T	0.79872	0.44372	T	0.2894566	0.51942	0.31221336	0.57224	0.2894566	0.51942	0.31221336	0.57223	-4.122	0.25614	T	.	.	0.197	0.41947	B	.	.	4.226269	0.63962	24.6	0.99552549758828413	0.71211	0.98616	0.84738	D	AEFDBI	0.547322	0.56107	D	0.499151384974287	0.67041	5.028983	0.537744477735815	0.70548	5.521584	0.999999994290448	0.74766	0.614807	0.35715	0	0.588066	0.40923	0	0.602189	0.34648	0	0.645948	0.59608	0	.	.	5.17	5.17	0.70848	5.666000	0.67729	7.530000	0.59902	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	19.038	0.92967	885	0.28214	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.07143	590.53	30	chr21	36270020	.	C	G	590.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.434;DP=207;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.14;ReadPosRankSum=-0.274;SOR=0.616	GT:AD:DP:GQ:PL	0/1:12,27:39:99:601,0,239	6	0	1	0
chr21	42443365	42443365	T	G	exonic	UBASH3A	.	nonsynonymous SNV	UBASH3A:NM_001001895:exon12:c.T1571G:p.M524R,UBASH3A:NM_018961:exon13:c.T1685G:p.M562R	.	405	1114	3	0	0	3	0.00134469	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.0268901201952	0.0007	0.000399361	0.0008	0.0002	0.0008	0	0.0003	0.0011	0.0023	0.0003	0.0007827	121	154602	rs148730063	0.0007	0.0007	0.0007	0.0007	0.0009	0.0006	0.0006	0.0007	0.0007	0.0001	0.0007	0.0002	0	0.0002	0.0009	0.0008	0.0008	0.0003	0.0007	0.0007	0.0009	0.0006	0.0012	0.0006	0.0006	0.0010	0.0009	7.229e-05	0	0.0011	0.0006	0	0	0	0.0012	0.0019	0.0004	0.028	0.46129	D	0.157	0.40267	T	0.001	0.14184	B	0.001	0.24394	B	0.130077	0.18672	N	0.492681	1	0.08975	N	-0.41	0.02942	N	-0.53	0.70833	T	-2.18	0.49187	N	0.282	0.31925	-1.0068	0.27912	T	0.127	0.43339	T	10	0.015376717	0.00323	T	0.02689	0.49757	D	0.186	0.46104	.	.	0.391930172978	0.38808	0.6982626435379021	0.69767	0.249182123757	0.27491	0.485067844391	0.36756	T	0.277628	0.65025	T	-0.38097	0.03072	T	-0.327277	0.41772	T	0.0188511043320546	0.00596	T	0.304969	0.05824	T	0.5523559	0.70087	0.35319978	0.60885	0.5523559	0.70088	0.35319978	0.60885	-2.319	0.04661	T	.	.	0.182	0.42097	B	.;.	.;.	1.511285	0.19414	14.25	0.76367757919272539	0.11440	0.04217	0.09732	N	AEFDGBI	0.055293	0.10127	N	-1.00914490453397	0.08413	0.3943926	-1.00356437100893	0.09706	0.484479	0.995766124229904	0.34312	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	3.54	2.4	0.28568	1.141000	0.31140	1.205000	0.24865	0.664000	0.56970	0.003000	0.16062	0.003000	0.18671	0.019000	0.11356	0.0:0.1261:0.0:0.8739	5.475	0.15984	994	0.00715	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.007576	0.07143	483.53	34	chr21	42443365	.	T	G	483.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.455;DP=214;ExcessHet=0;FS=3.22;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.22;ReadPosRankSum=-1.093;SOR=0.269	GT:AD:DP:GQ:PL	0/1:15,19:34:99:494,0,407	6	0	1	0
chr21	43676857	43676857	G	A	exonic	RRP1B	.	nonsynonymous SNV	RRP1B:NM_015056:exon8:c.G739A:p.E247K	.	418	1095	9	0	0	9	0.00409277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.00886660971492	0.0008	0.00139776	0.0006	9.61e-05	0	0	0.0003	0.0007	0.0011	0.0015	0.0006404	99	154602	rs150529292	0.0007	0.0007	0.0006	0.0007	0.0024	0.0006	0.0006	0.0016	0.0015	5.974e-05	0.0002	3.826e-05	0	0.0002	0.0024	0.0006	0.0009	0.0019	0.0005	0.0005	0.0006	0.0005	0.0027	0.0004	0.0004	0.0016	0.0013	0.0001	0	0.0004	0	0	9.407e-05	0	0.0008	0	0.0027	.	.	.	0.042	0.50226	D	0.014	0.16867	B	0.01	0.14941	B	0.460889	0.12393	N	0.785817	1	0.08975	N	2.08	0.57402	M	1.32	0.35219	T	-2.73	0.58085	D	0.391	0.43223	-0.9948	0.31352	T	0.095	0.35950	T	10	0.008585334	0.00194	T	0.008867	0.23390	T	0.091	0.26358	.	.	0.452450644169	0.44866	0.281595001422961	0.28072	0.446550992324	0.44524	0.29518276453	0.09684	T	0.208239	0.56812	T	-0.583004	0.00185	T	-0.623451	0.10916	T	0.0268143102351685	0.01518	T	0.437256	0.12012	T	0.59427935	0.72382	0.2638058	0.52192	0.59427935	0.72383	0.2638058	0.52191	-7.913	0.60476	D	.	.	0.072	0.04356	B	.	.	2.119634	0.26979	17.31	0.98529986422526283	0.42582	0.67601	0.33492	D	AEFBI	0.127706	0.24519	N	-0.471554878597124	0.23016	1.233033	-0.464581952063769	0.23136	1.260186	0.999710465902788	0.42101	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.61	4.72	0.59248	3.287000	0.51438	2.498000	0.33015	0.676000	0.76740	0.174000	0.23986	0.074000	0.22270	0.001000	0.02609	0.09:0.0:0.91:0.0	10.820	0.45801	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.002924	0.000000	0.008621	0.003049	0.000000	0.07143	995.45	33	chr21	43676857	.	G	A	995.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.304;DP=265;ExcessHet=0;FS=0.793;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.18;ReadPosRankSum=-0.566;SOR=0.657	GT:AD:DP:GQ:PL	0/1:44,45:89:99:1006,0,950	6	0	1	0
chr21	44637708	44637723	TGTCTGCTGTGTGCCC	0	exonic	KRTAP10-10	.	.	.	.	451	251	178	15	627	835	0.292958	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	6171.01	33	chr21	44637708	.	TGTCTGCTGTGTGCCC	*	6171.01	.	AC=3;AF=0.214;AN=14;BaseQRankSum=0.365;DP=1211;ExcessHet=0.0921;FS=0;MLEAC=3;MLEAF=0.214;MQ=59.97;MQRankSum=-0.972;QD=6.53;ReadPosRankSum=1.58;SOR=0.698	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:2,155:157:99:.:.:6874,464,0:.	5	1	1	0
chr22	17209580	17209580	G	A	exonic	ADA2	.	nonsynonymous SNV	ADA2:NM_001282225:exon2:c.C98T:p.T33I,ADA2:NM_001282226:exon2:c.C98T:p.T33I	Polyarteritis nodosa, childhood-onset, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	2109789	Vasculitis_due_to_ADA2_deficiency	MONDO:MONDO:0014306,MedGen:C3887654,OMIM:615688,Orphanet:404553	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.168	0.00272382088347	.	.	8.256e-06	0	0	0	0	1.501e-05	0	0	6.5e-06	1	154602	rs780192478	8.893e-06	8.893e-06	1.089e-05	6.875e-06	1.169e-05	4.96e-06	3.82e-06	6.52e-06	5.03e-06	0	0	0	0	0	0	1.169e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.164	0.23360	T	0.187	0.38742	T	0.04	0.21238	B	0.025	0.20508	B	0.381835	0.13378	N	0.727716	1	0.08975	N	.	.	.	0.9	0.45248	T	-0.9	0.34397	N	0.135	0.13198	-1.0482	0.14903	T	0.045	0.19152	T	10	0.16914842	0.31505	T	0.002724	0.05608	T	0.168	0.42943	0.432	0.48171	0.0551355673512	0.04727	0.5834641053717693	0.58275	0.0482128920578	0.05268	0.351100385189	0.18084	T	0.170318	0.67105	T	-0.278996	0.10773	T	-0.623049	0.10948	T	0.066511407363814	0.08153	T	0.418758	0.11073	T	0.085095465	0.19724	0.07478601	0.16396	0.085095465	0.19724	0.07478601	0.16396	-4.666	0.32990	T	.	.	0.113	0.22135	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.097466	0.03657	0.732	0.88280900559393383	0.17854	0.03626	0.08868	N	AEFBI	0.081732	0.16542	N	-1.40801493919315	0.02567	0.1135605	-1.52976464367831	0.02118	0.09694394	0.996260102411972	0.34630	0.706298	0.61202	0	0.709663	0.81188	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	4.66	-8.15	0.00937	-0.627000	0.05618	-1.237000	0.05943	-0.224000	0.07868	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.3308:0.201:0.1663:0.3018	0.103	0.00046	994	0.00715	Adenosine/AMP deaminase N-terminal;Adenosine/AMP deaminase N-terminal;Adenosine/AMP deaminase N-terminal;Adenosine/AMP deaminase N-terminal;Adenosine/AMP deaminase N-terminal;Adenosine/AMP deaminase N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	368.53	34	chr22	17209580	.	G	A	368.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.649;DP=241;ExcessHet=0;FS=2.87;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.96;ReadPosRankSum=1.62;SOR=0.339	GT:AD:DP:GQ:PL	0/1:20,17:37:99:379,0,532	6	0	1	0
chr22	18161890	18161890	C	T	exonic	USP18	.	nonsynonymous SNV	USP18:NM_017414:exon4:c.C355T:p.R119W	.	.	.	.	.	.	.	.	.	.	.	2271252	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.065	0.0157702579602	.	.	4.154e-05	9.75e-05	0	0	0	0	0	0.0002	9.06e-05	14	154602	rs187908474	4.173e-05	4.446e-05	3.676e-05	4.676e-05	0.0002	3.311e-05	3.001e-05	0.0001	9.451e-05	0.0002	0.0001	0	0	0	0	3.058e-05	0	0.0002	7.889e-05	8.537e-05	7.711e-05	8.075e-05	0.0003	4.499e-05	3.514e-05	0.0001	0.0001	0.0003	0	0	0	0	0	0	0	0	0.0002	0.189	0.21224	T	0.211	0.26631	T	0.005	0.12996	B	0.007	0.12992	B	0.898825	0.08635	N	0.954809	1	0.08975	N	.	.	.	1.48	0.31731	T	-1.12	0.28906	N	0.337	0.37820	-1.0461	0.15505	T	0.032	0.13898	T	10	0.21742123	0.38353	T	0.01577	0.36685	T	0.065	0.18881	.	.	0.376570364461	0.37271	0.3028083435833438	0.30193	0.469182032742	0.46230	0.256836593151	0.04521	T	0.133305	0.46391	T	-0.448349	0.01155	T	-0.58965	0.13696	T	0.0284811891615391	0.01759	T	0.383762	0.09387	T	0.054126278	0.10343	0.0546777	0.09451	0.054126278	0.10343	0.0546777	0.09450	-4.445	0.30162	T	.	.	0.083	0.09094	B	.	.	2.557631	0.33119	19.24	0.98253139130436684	0.39594	0.02008	0.06044	N	AEFDI	0.121236	0.23580	N	-0.599885815957313	0.18949	0.9878882	-0.497257929843072	0.22230	1.206377	0.00787671573927491	0.11563	0.732398	0.92422	0	0.643519	0.57511	0	0.675528	0.61593	0	0.727631	0.95156	0	.	.	5.57	3.08	0.34576	0.232000	0.17670	0.191000	0.15744	0.573000	0.29008	0.002000	0.15269	0.006000	0.19429	0.253000	0.23340	0.1968:0.6997:0.0:0.1034	6.688	0.22342	793	0.45818	Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	434.45	33	chr22	18161890	.	C	T	434.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.604;DP=216;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=57.76;MQRankSum=2.1;QD=11.43;ReadPosRankSum=-1.542;SOR=0.639	GT:AD:DP:GQ:PL	0/1:17,21:38:99:445,0,425	6	0	1	0
chr22	18925165	18925165	A	G	exonic	LOC102724788;PRODH	.	nonsynonymous SNV	PRODH:NM_001195226:exon4:c.T229C:p.W77R,LOC102724788:NM_001368249:exon4:c.T553C:p.W185R,LOC102724788:NM_001368250:exon4:c.T229C:p.W77R,PRODH:NM_016335:exon4:c.T553C:p.W185R	.	0	170	630	722	0	2074	0.859155	.	.	.	1159081	Proline_dehydrogenase_deficiency|not_provided	MONDO:MONDO:0009400,MedGen:C0268529,OMIM:239500,Orphanet:419|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.076	.	0.6739	0.78095	0.6417	0.8658	0.6056	0.9683	0.4835	0.5769	0.6024	0.6814	0.02359	614	26028	rs386819653	0.0003	0.0047	0.0004	0.0002	0.0023	0.0002	0.0001	0.0006	0.0003	0	0.0023	0	0	0	0	0.0004	0	0	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	.	0	0	0	0.503	0.07670	T	0.534	0.09965	T	0.0	0.02946	B	0.0	0.01387	B	0.094139	0.20188	N	0.520350	0.999439	0.21199	P	.	.	.	-0.92	0.75108	T	3.71	0.00075	N	0.033	0.01068	-0.9908	0.32398	T	0.000	0.00011	T	8	1.1503014e-06	0.00003	T	.	.	.	0.124	0.34239	0.323	0.30387	.	.	0.36059814543275515	0.35973	0.483945717353	0.47326	0.248760938644	0.03638	T	0.002583	0.06018	T	-0.601222	0.00143	T	-0.49257	0.23121	T	0.00184463573786778	0.00019	T	0.00685721	0.00048	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.00015	B	.;.;.;.;.	.;.;.;.;.	0.485323	0.08545	5.311	0.22177376406136032	0.00880	0.05952	0.11910	N	AEFDBI	0.024100	0.01439	N	-0.980425259653166	0.09021	0.425321	-0.911628502467974	0.11819	0.6044718	0.999452624102034	0.39788	0.722319	0.85440	0	0.627178	0.54094	0	0.698795	0.65105	0	0.613276	0.41899	0	.	.	5.03	2.88	0.32617	3.825000	0.55430	1.457000	0.26651	-2.966000	0.00148	0.770000	0.29357	0.835000	0.27248	0.022000	0.11911	0.1618:0.0:0.6925:0.1458	6.438	0.21037	929	0.16858	.;.;.;.;.	.	.	.	.	rs4819756	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	1	0	0.686304	0.752525	0.689373	0.602339	0.700000	0.612069	0.704268	0.655303	0.75	15434.7	140	chr22	18925165	.	A	G	15434.7	.	AC=9;AF=0.75;AN=12;BaseQRankSum=-0.473;DP=843;ExcessHet=1.383;FS=0;MLEAC=10;MLEAF=0.833;MQ=60;MQRankSum=0;QD=18.92;ReadPosRankSum=-0.984;SOR=0.686	GT:AD:DP:GQ:PL	1/1:0,72:72:99:2036,216,0	0	3	3	1
chr22	19180775	19180775	C	T	exonic	CLTCL1	.	nonsynonymous SNV	CLTCL1:NM_001835:exon30:c.G4688A:p.R1563H,CLTCL1:NM_007098:exon31:c.G4859A:p.R1620H	.	419	1040	61	2	0	65	0.030303	.	.	.	2821919	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.156	.	0.0055	0.0179712	0.0120	0.0017	0.0049	0.0107	0.0005	0.0072	0.0122	0.0482	0.0115328	1783	154602	rs5748024	0.0095	0.0095	0.0084	0.0107	0.0458	0.0094	0.0093	0.0446	0.0441	0.0013	0.0064	0.0203	0.0067	0.0008	0.0279	0.0072	0.0106	0.0458	0.0072	0.0072	0.0068	0.0077	0.0495	0.0069	0.0067	0.0444	0.0424	0.0016	0.0285	0.0074	0.0187	0.0106	0.0004	0.0272	0.0074	0.0090	0.0495	0.054	0.38633	T	0.056	0.46632	T	0.016	0.17332	B	0.015	0.17295	B	0.178427	0.17170	N	0.540718	1	0.08975	N	1.815	0.47718	L	1.44	0.32722	T	-1.99	0.45949	N	0.099	0.08088	-0.9915	0.32218	T	0.081	0.31913	T	10	0.0017917454	0.00023	T	.	.	.	0.156	0.40720	.	.	.	.	0.4663343100944464	0.46552	.	.	0.175947144628	0.00062	T	0.205721	0.56486	T	-0.577031	0.00201	T	-0.567333	0.15694	T	0.0139584133045565	0.00268	T	0.857914	0.54891	D	0.027700981	0.02001	0.042738877	0.05158	0.023303073	0.01059	0.042738877	0.05158	-4.509	0.33765	T	0.4150719537382289	0.50475	0.066	0.10111	B	.;.;.;.	.;.;.;.	-0.399366	0.02216	0.222	0.90121329692522201	0.19402	0.13782	0.18049	N	AEFBI	0.223044	0.34745	N	-1.48063429334403	0.01986	0.08726487	-1.65069623804797	0.01372	0.06198492	0.999999830592746	0.74766	0.718356	0.82227	0	0.59043	0.45803	0	0.570548	0.19454	0	0.655142	0.61905	0	.	.	4.81	-5.85	0.02121	0.293000	0.18785	-5.817000	0.01586	-1.541000	0.00979	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.9211:0.0:0.0789	18.122	0.89504	756	0.51065	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.019134	0.010101	0.016304	0.020468	0.100000	0.008621	0.009146	0.030303	0.07143	882.44	37	chr22	19180775	.	C	T	882.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.475;DP=246;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.48;ReadPosRankSum=-0.951;SOR=0.587	GT:AD:DP:GQ:PL	0/1:22,35:57:99:893,0,508	6	0	1	0
chr22	19880651	19880651	C	T	exonic	TXNRD2	.	unknown	UNKNOWN	.	0	1517	5	0	0	5	0.00164528	.	.	.	951343	not_provided|Primary_dilated_cardiomyopathy|Cardiovascular_phenotype	MedGen:C3661900|EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604|MedGen:CN230736	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.227	0.0340626979881	.	0.000199681	2.517e-05	0	0	0	0	0	0	0.0002	2.59e-05	4	154602	rs528059873	1.985e-05	1.984e-05	5.448e-06	3.439e-05	0.0003	1.393e-05	1.204e-05	0.0002	0.0001	2.987e-05	2.236e-05	0	2.519e-05	0	0	3.597e-06	0	0.0003	1.313e-05	1.312e-05	0	2.685e-05	0.0004	2.18e-06	8.2e-07	7.301e-05	3.033e-05	0	0	0	0	0	0	0	0	0	0.0004	0.072	0.34982	T	0.115	0.45110	T	0.009	0.15093	B	0.002	0.06944	B	0.925948	0.07505	N	1.031590	1	0.08975	N	1.06	0.26948	L	-0.51	0.70597	T	-2.87	0.60348	D	0.199	0.30233	-0.7685	0.56940	T	0.296	0.66745	T	10	0.14633414	0.27745	T	0.034063	0.55422	D	0.227	0.52620	0.497	0.58678	0.373357554552	0.36949	.	.	0.243796731124	0.26884	0.232830673456	0.02184	T	0.288649	0.66144	T	-0.263685	0.12472	T	-0.324393	0.42091	T	0.0512812799523378	0.05724	T	0.471653	0.14010	T	0.060433634	0.12401	0.089382775	0.20900	0.060433634	0.12400	0.089382775	0.20899	.	.	.	0.15536219944362495	0.18617	.	.	.	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.271002	0.06489	2.964	0.87701476828810609	0.17418	0.05754	0.11683	N	AEFDGBHCI	0.159220	0.28499	N	-1.0357727536026	0.07869	0.3670413	-1.11842764933087	0.07348	0.357078	0.999999998143983	0.74766	0.733237	0.96898	0	0.633656	0.55848	0	0.601644	0.32324	0	0.621717	0.48901	0	.	.	5.38	-1.08	0.09428	1.101000	0.30650	0.597000	0.19884	-1.084000	0.01555	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	0.0:0.4677:0.2953:0.2371	10.920	0.46369	907	0.22727	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000505	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.07143	677.83	36	chr22	19880651	.	C	T	677.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.102;DP=229;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.29;ReadPosRankSum=-0.907;SOR=0.716	GT:AD:DP:GQ:PL	0/1:24,27:51:99:688,0,627	6	0	1	0
chr22	23311788	23311788	-	CCGG	exonic	BCR	.	frameshift insertion	BCR:NM_021574:exon18:c.3142_3143insCCGG:p.V1050Rfs*17,BCR:NM_004327:exon19:c.3274_3275insCCGG:p.V1094Rfs*17	Leukemia, acute lymphocytic, somatic;Leukemia, chronic myeloid, somatic	25	583	905	9	0	923	0.441838	.	.	.	1196252	Chronic_myelogenous_leukemia,_BCR-ABL1_positive|not_provided	Human_Phenotype_Ontology:HP:0005506,Human_Phenotype_Ontology:HP:0005544,MONDO:MONDO:0011996,MeSH:D015464,MedGen:C0279543,OMIM:608232,Orphanet:521|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012679	33	26028	rs372013175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	3049.25	65	chr22	23311788	.	T	TCCGG	3049.25	.	AC=6;AF=0.429;AN=14;BaseQRankSum=1.91;DP=565;ExcessHet=8.2628;FS=21.365;MLEAC=6;MLEAF=0.429;MQ=55.55;MQRankSum=-7.119;QD=5.72;ReadPosRankSum=1.15;SOR=1.923	GT:AD:DP:GQ:PL	0/1:39,11:50:99:324,0,1596	1	0	6	0
chr22	23311830	23311830	G	A	exonic	BCR	.	nonsynonymous SNV	BCR:NM_021574:exon18:c.G3184A:p.D1062N,BCR:NM_004327:exon19:c.G3316A:p.D1106N	Leukemia, acute lymphocytic, somatic;Leukemia, chronic myeloid, somatic	59	994	464	5	0	474	0.192526	.	.	.	247185	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.231	0.0272677260962	.	.	.	.	.	.	.	.	.	.	.	.	.	rs879255379	3.426e-06	6.156e-06	5.454e-06	1.377e-06	2.994e-05	1e-06	7.3e-07	7.2e-07	2e-07	2.994e-05	2.236e-05	0	0	0	0	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.35726	T	0.018	0.59732	D	0.976	0.58310	D	0.752	0.56092	P	0.000000	0.84330	D	0.000000	1	0.81001	D	0.765	0.19305	N	2.66	0.12575	T	-3.28	0.65627	D	0.843	0.83885	-1.1463	0.01139	T	0.053	0.22423	T	10	0.81994617	0.81205	D	0.027268	0.50098	D	0.231	0.53208	.	.	0.600008996327	0.59681	0.3965005129848048	0.39565	2.73974519172	0.98685	0.815404891968	0.84322	D	0.308497	0.68058	T	-0.175721	0.24374	T	-0.490187	0.23372	T	0.916451156139374	0.57389	D	0.875712	0.89686	D	0.43747994	0.63240	0.3549618	0.61031	0.43747994	0.63240	0.3549618	0.61031	-6.831	0.53477	T	.	.	0.771	0.75988	P	.;.	.;.	5.927754	0.94089	33	0.99910446622876614	0.98022	0.98481	0.83233	D	AEFBI	0.912634	0.87354	D	0.533033419009816	0.69054	5.303049	0.562786706860508	0.72290	5.786788	0.9999990001556	0.74766	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.49	4.49	0.54177	9.664000	0.97881	6.611000	0.56088	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.953000	0.50222	0.0:0.0:1.0:0.0	16.632	0.84893	940	0.13648	Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2857	724.04	81	chr22	23311830	.	G	A	724.04	.	AC=4;AF=0.286;AN=14;BaseQRankSum=4.03;DP=501;ExcessHet=2.5225;FS=34.125;MLEAC=4;MLEAF=0.286;MQ=57.74;MQRankSum=-9.243;QD=2.4;ReadPosRankSum=-2.988;SOR=3.372	GT:AD:DP:GQ:PL	0/1:31,6:37:99:117,0,868	3	0	4	0
chr22	25185120	25185120	-	TGA	splicing	KIAA1671	NM_001145206:exon9:c.5342+1->TGA	.	.	.	430	1089	3	0	0	3	0.00137552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0	0	0	0	0	0	0.0010	3.88e-05	6	154602	rs750252990	6.811e-05	6.498e-05	3.958e-05	9.747e-05	0.0011	5.689e-05	5.284e-05	0.0009	0.0008	0	0	0	0	0	0.0002	8.362e-06	3.465e-05	0.0011	2.626e-05	2.625e-05	0	5.37e-05	0.0004	8.14e-06	5.14e-06	7.29e-05	3.029e-05	0	0	0	0	0	0	0.0034	1.47e-05	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	620.59	21	chr22	25185120	.	G	GTGA	620.59	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.919;DP=170;ExcessHet=0;FS=2.172;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=29.55;ReadPosRankSum=0.041;SOR=0.223	GT:AD:DP:GQ:PL	0/1:5,16:21:99:631,0,162	6	0	1	0
chr22	29137548	29137548	G	A	exonic	KREMEN1	.	nonsynonymous SNV	KREMEN1:NM_001039570:exon6:c.G838A:p.V280I,KREMEN1:NM_032045:exon6:c.G838A:p.V280I	Ectodermal dysplasia 13, hair/tooth type, Autosomal recessive	431	1088	3	0	0	3	0.00137678	.	.	.	2110755	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.188	0.0118421938109	0.0011	0.000798722	0.0009	0.0004	0.0014	0	0	0.0013	0.0011	0.0003	0.0009508	147	154602	rs146915661	0.0011	0.0011	0.0012	0.0011	0.0023	0.0011	0.0010	0.0013	0.0011	0.0002	0.0013	0.0029	0	0	0.0023	0.0012	0.0015	0.0003	0.0013	0.0013	0.0012	0.0013	0.0035	0.0011	0.0011	0.0028	0.0025	0.0005	0	0.0035	0.0037	0	9.425e-05	0	0.0014	0.0033	0.0006	0.29	0.33254	T	0.046	0.50514	D	0.99	0.70673	D	0.98	0.80445	D	0.000039	0.55875	D	0.000000	1	0.81001	D	1.66	0.42513	L	1.61	0.28391	T	-0.12	0.09965	N	0.599	0.65416	-0.9614	0.38916	T	0.155	0.48550	T	10	0.06846094	0.09684	T	0.011842	0.29861	T	0.188	0.46444	.	.	0.477451190609	0.47374	0.2286316304191465	0.22778	0.641525643221	0.57744	0.485863208771	0.36866	T	0.032081	0.22330	T	-0.42717	0.01542	T	-0.390992	0.34435	T	0.0818373039364815	0.10221	T	0.90091	0.65583	D	0.29543838	0.52493	0.18021925	0.40807	0.29543838	0.52492	0.18021925	0.40806	-6.661	0.51516	T	0.3559732395771543	0.45283	0.145	0.35310	B	.;.;.	.;.;.	3.734903	0.53444	23.4	0.998824833157678	0.95813	0.98501	0.83448	D	AEFBI	0.829033	0.74802	D	0.659945139408731	0.77015	6.593865	0.650413924367121	0.78640	6.91729	0.999999999998344	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.586402	0.36253	0	.	.	4.89	4.89	0.63387	7.632000	0.82419	11.776000	0.95984	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.846000	0.39970	0.0:0.0:1.0:0.0	15.932	0.79456	504	0.75712	.;.;CUB domain|CUB domain|CUB domain|CUB domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.07143	833.44	35	chr22	29137548	.	G	A	833.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.872;DP=238;ExcessHet=0;FS=3.856;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.88;ReadPosRankSum=-0.127;SOR=0.424	GT:AD:DP:GQ:PL	0/1:21,35:56:99:844,0,516	6	0	1	0
chr22	31712926	31712926	C	T	exonic	PRR14L	.	nonsynonymous SNV	PRR14L:NM_173566:exon4:c.G4913A:p.R1638Q	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.0307662681601	.	.	9.181e-05	0	0	0.0016	0	0	0	0.0001	1.29e-05	2	154602	rs745490244	5.43e-05	5.199e-05	6.062e-05	4.781e-05	0.0018	4.348e-05	4.061e-05	0.0014	0.0013	0	2.8e-05	0	0.0018	0	0	4.634e-06	3.445e-05	6.31e-05	3.287e-05	3.284e-05	1.285e-05	5.382e-05	0.0008	1.261e-05	7.98e-06	0.0003	0.0002	2.414e-05	0	0	0	0.0008	0	0	0	0	0	0.205	0.20002	T	0.354	0.17268	T	0.012	0.16265	B	0.003	0.08700	B	0.954674	0.07678	N	1.024750	1	0.08975	N	0.205	0.09354	N	3.3	0.06368	T	-0.78	0.21644	N	0.086	0.06322	-0.9143	0.46311	T	0.010	0.03537	T	9	0.009236991	0.00209	T	0.030766	0.53006	D	0.031	0.07369	.	.	0.0675242888579	0.06100	0.05202855187134174	0.05144	0.0765561558212	0.08593	0.185502782464	0.00155	T	0.005656	0.05109	T	-0.594791	0.00157	T	-0.72456	0.04578	T	0.00943921327210801	0.00121	T	0.645335	0.25688	T	0.02045813	0.00605	0.03097092	0.01622	0.02045813	0.00604	0.03097092	0.01622	-4.269	0.27740	T	.	.	0.074	0.05231	B	.	.	0.785742	0.11562	8.154	0.80617976664165958	0.13288	0.06330	0.12327	N	AEFDBI	0.036541	0.04886	N	-1.40837931060107	0.02565	0.1134145	-1.43099306026649	0.02946	0.1365312	0.910627228408119	0.26344	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.37	-5.29	0.02535	-0.195000	0.09546	-1.228000	0.05968	-0.985000	0.01878	0.284000	0.25178	0.000000	0.08366	0.854000	0.40426	0.1263:0.1933:0.1122:0.5681	3.837	0.08409	154	0.93967	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1161.63	34	chr22	31712926	.	C	T	1161.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.882;DP=243;ExcessHet=0;FS=2.599;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=20.38;ReadPosRankSum=-1.169;SOR=0.524	GT:AD:DP:GQ:PL	0/1:15,42:57:99:1172,0,389	6	0	1	0
chr22	37056380	37056380	G	A	exonic	KCTD17	.	nonsynonymous SNV	KCTD17:NM_001282684:exon3:c.G380A:p.R127Q,KCTD17:NM_001282685:exon3:c.G380A:p.R127Q,KCTD17:NM_001282686:exon3:c.G380A:p.R127Q,KCTD17:NM_024681:exon3:c.G380A:p.R127Q	Dystonia 26, myoclonic, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.200	0.0482798066926	.	.	4.198e-05	0	0	0	0	1.524e-05	0	0.0003	3.23e-05	5	154602	rs769868923	1.505e-05	1.505e-05	9.532e-06	2.063e-05	0.0001	9.86e-06	8.42e-06	7.131e-05	5.487e-05	0	0	0	0	0	0	8.995e-06	1.657e-05	0.0001	6.57e-06	6.566e-06	1.285e-05	0	.	0	0	.	.	0	0	0	0.0003	0	0	0	0	0	0	0.013	0.54683	D	0.073	0.56192	T	0.996	0.70673	D	0.902	0.64047	P	0.000735	0.42129	D	0.000000	0.99907	0.46009	D	2.495	0.72670	M	0.97	0.42502	T	-3.09	0.63438	D	0.429	0.50418	-0.4977	0.68733	T	0.257	0.62766	T	10	0.31787127	0.49192	T	0.04828	0.63300	D	0.200	0.48430	0.565	0.68633	0.610390267789	0.60725	0.738728194840748	0.73817	2.39889414524	0.97143	0.585782766342	0.50900	T	0.059093	0.44903	T	-0.260104	0.12888	T	-0.351719	0.39008	T	0.940734326839447	0.61334	D	0.907809	0.67374	D	0.34109178	0.56366	0.18759786	0.42001	0.34109178	0.56366	0.18759786	0.42000	-12.525	0.87435	D	0.4282075721454392	0.51580	0.158	0.54587	B	.;.;.	.;.;.	6.023489	0.94368	34	0.99939590809653167	0.99734	0.96966	0.71921	D	AEFDBI	0.780670	0.71249	D	0.593413720121486	0.72762	5.857126	0.570909144091216	0.72864	5.877473	0.996813576038425	0.35031	0.732398	0.92422	0	0.80507	0.99744	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.35	4.35	0.51454	6.856000	0.75250	11.722000	0.94835	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	17.069	0.86443	940	0.13648	BTB/POZ domain;.;BTB/POZ domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	511.46	34	chr22	37056380	.	G	A	511.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.17;DP=212;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.98;ReadPosRankSum=1.17;SOR=0.507	GT:AD:DP:GQ:PL	0/1:13,19:32:99:522,0,303	6	0	1	0
chr22	37824853	37824853	G	C	exonic	GALR3	.	nonsynonymous SNV	GALR3:NM_003614:exon2:c.G490C:p.V164L	.	433	1079	9	1	0	11	0.00507146	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.146	0.844423935742	0.0003	0.000998403	0.0033	0	0.0033	0	0	0.0038	0.0042	0.0040	0.0009832	152	154602	rs201220537	0.0008	0.0008	0.0007	0.0008	0.0100	0.0007	0.0007	0.0075	0.0067	0.0004	0.0017	0.0088	0	0	0.0100	0.0005	0.0019	0.0012	0.0009	0.0009	0.0009	0.0009	0.0018	0.0008	0.0008	0.0013	0.0011	0.0005	0	0.0018	0.0079	0	0	0.0241	0.0007	0.0038	0.0012	0.451	0.08969	T	0.517	0.10572	T	0.067	0.23653	B	0.013	0.16460	B	0.001388	0.39175	N	0.216529	0.567405	0.32265	D	1.005	0.25186	L	-0.59	0.71543	T	-0.81	0.22294	N	0.253	0.28616	-0.7832	0.56121	T	0.164	0.50144	T	10	0.010802358	0.00239	T	0.844424	0.98798	D	0.146	0.38789	0.501	0.59304	0.751730520737	0.74948	0.19785064172882888	0.19702	1.03962625952	0.75747	0.965840280056	0.99958	D	0.034564	0.23370	T	-0.336506	0.05634	T	-0.275159	0.47298	T	0.0344886640305371	0.02721	T	0.465653	0.13651	T	0.45275438	0.64216	0.33595946	0.59404	0.45275438	0.64216	0.33595946	0.59403	-3.212	0.12628	T	.	.	0.160	0.35435	B	.	.	3.462266	0.48258	22.6	0.95845559521342216	0.27976	0.89866	0.50614	D	ALL	0.395779	0.47251	N	-0.18601357204842	0.33717	1.916028	0.00386481695361777	0.39894	2.372386	0.999999927828875	0.74766	0.443343	0.08805	1	0.578056	0.33634	0	0.666236	0.60216	0	0.603991	0.37454	0	.	.	4.81	4.81	0.61401	4.773000	0.62025	6.009000	0.52614	0.502000	0.22824	1.000000	0.71638	1.000000	0.68203	0.857000	0.40602	0.1625:0.0:0.8375:0.0	9.770	0.39750	905	0.23532	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	292.49	30	chr22	37824853	.	G	C	292.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.699;DP=209;ExcessHet=0;FS=1.325;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.12;ReadPosRankSum=0.526;SOR=0.392	GT:AD:DP:GQ:PL	0/1:20,16:36:99:303,0,458	6	0	1	0
chr22	39512244	39512244	C	A	exonic	MIEF1	.	nonsynonymous SNV	MIEF1:NM_001304564:exon5:c.C335A:p.P112Q,MIEF1:NM_019008:exon5:c.C335A:p.P112Q	.	.	.	.	.	.	.	.	.	.	.	2205366	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.079	0.0128721597794	.	.	5.072e-05	0	0	0	0	9.234e-05	0	0	4.53e-05	7	154602	rs12158456	9.518e-05	9.508e-05	0.0001	8.671e-05	0.0003	8.21e-05	7.724e-05	0.0001	8.699e-05	0.0002	0	0	0	0	0.0003	0.0001	0.0001	0	3.941e-05	3.94e-05	3.853e-05	4.033e-05	5.878e-05	1.715e-05	1.129e-05	1.972e-05	1.124e-05	2.412e-05	0	0	0	0	9.411e-05	0	5.878e-05	0	0	0.255	0.16848	T	0.684	0.06511	T	0.834	0.46206	P	0.322	0.41795	B	0.000968	0.40836	D	0.263291	0.999654	0.48079	D	1.95	0.52479	M	2.82	0.10871	T	-0.45	0.16799	N	0.519	0.55280	-0.9845	0.33951	T	0.022	0.09284	T	10	0.17103195	0.31799	T	0.012872	0.31816	T	0.079	0.23065	.	.	0.301122078929	0.29733	0.18758882489366766	0.18676	0.379344899926	0.39330	0.358880937099	0.19223	T	0.015791	0.13179	T	-0.31354	0.07440	T	-0.483605	0.24063	T	0.0666124299168587	0.08167	T	0.777022	0.40965	T	0.06875473	0.15006	0.07182645	0.15424	0.06875473	0.15006	0.07182645	0.15423	-4.556	0.31614	T	.	.	0.069	0.06387	B	.;.;.	.;.;.	2.115494	0.26923	17.29	0.9793004297009027	0.36949	0.99064	0.90698	D	AEFBI	0.477416	0.52041	N	-0.185720887197451	0.33729	1.916866	-0.0217450365406997	0.38735	2.28638	0.999999998552032	0.74766	0.609539	0.35627	0	0.577304	0.33150	0	0.493711	0.08198	1	0.635551	0.53088	0	.	.	5.87	4.86	0.62624	2.208000	0.42436	1.832000	0.29123	-0.201000	0.08892	0.992000	0.37556	0.937000	0.28687	0.991000	0.66497	0.0:0.9327:0.0:0.0673	15.237	0.73129	900	0.24599	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001512	0.000000	0.002717	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	295.63	28	chr22	39512244	.	C	A	295.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.171;DP=193;ExcessHet=0;FS=3.981;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.08;ReadPosRankSum=-0.181;SOR=0.215	GT:AD:DP:GQ:PL	0/1:8,13:21:99:306,0,197	6	0	1	0
chr22	39649680	39649680	G	A	exonic	CACNA1I	.	nonsynonymous SNV	CACNA1I:NM_001003406:exon9:c.G1642A:p.A548T,CACNA1I:NM_021096:exon10:c.G1747A:p.A583T	.	242	1272	6	2	0	10	0.00391543	.	.	.	2476883	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.244	0.0397685095575	0.0012	0.00219649	0.0020	0	0.0046	0	0	0.0035	0	0	0.0007827	121	154602	rs56859827	0.0014	0.0014	0.0014	0.0014	0.0158	0.0014	0.0013	0.0129	0.0119	0.0030	0.0047	0.0079	0	4.283e-05	0.0158	0.0011	0.0033	0.0004	0.0024	0.0024	0.0024	0.0025	0.0082	0.0022	0.0021	0.0071	0.0066	0.0020	0	0.0082	0.0092	0	9.438e-05	0.0138	0.0016	0.0062	0	0.462	0.11120	T	0.517	0.10572	T	0.005	0.14655	B	0.001	0.06944	B	0.000001	0.00162	N	18.761200	1	0.08975	N	1.355	0.33814	L	-4.07	0.96687	D	-0.75	0.21860	N	0.157	0.16308	-0.0527	0.81149	T	0.618	0.86522	D	10	0.00591442	0.00132	T	0.039769	0.58997	D	0.244	0.55061	.	.	0.541563161504	0.53808	0.19011871540595646	0.18929	0.924713105893	0.71596	0.371823906898	0.21094	T	0.012131	0.10712	T	-0.365462	0.03831	T	-0.298018	0.44933	T	0.00373968284432066	0.00040	T	0.142186	0.01486	T	0.033974603	0.03722	0.05052342	0.07946	0.033974603	0.03722	0.05052342	0.07946	-4.395	0.29598	T	.	.	0.070	0.04080	B	.;.;.;.	.;.;.;.	0.208574	0.05926	2.364	0.97287762326005478	0.33214	0.21747	0.21510	N	AEFDBI	0.179413	0.30670	N	-1.10388642612502	0.06574	0.3029979	-1.13316298278046	0.07074	0.3427548	0.16779203473491	0.17690	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	2.44	1.34	0.21018	0.079000	0.14636	0.854000	0.22166	-0.773000	0.03420	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2946:0.7054:0.0	6.799	0.22923	878	0.29785	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.021878	0.047368	0.033528	0.014970	0.000000	0.019231	0.003205	0.008264	0.08333	48.27	21	chr22	39649680	.	G	A	48.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.168;DP=165;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=4.83;ReadPosRankSum=-1.213;SOR=0.892	GT:AD:DP:GQ:PL	0/1:7,3:10:58:58,0,156	5	0	1	1
chr22	41794400	41794400	C	T	exonic	MEI1	.	nonsynonymous SNV	MEI1:NM_152513:exon28:c.C3457T:p.R1153W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.764	0.337563690841	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1308374741	2.052e-06	2.052e-06	2.723e-06	1.375e-06	2.698e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	0	0	6.571e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.005	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.999	0.92359	D	0.000245	0.46924	D	0.143965	0.952233	0.40113	D	2.485	0.72352	M	-0.51	0.70597	T	-4.18	0.85027	D	0.81	0.80572	-0.0231	0.81775	T	0.466	0.79394	T	10	0.76890415	0.76923	D	0.337564	0.91925	D	0.764	0.92004	0.59	0.71874	0.686386198217	0.68370	0.5782385486343223	0.57752	0.522400718261	0.49966	0.661893486977	0.61680	T	0.619654	0.88060	D	0.337414	0.85663	D	0.246896	0.85475	D	0.987331926822662	0.77850	D	0.917108	0.70989	D	0.2672744	0.49799	0.18233374	0.41154	0.2672744	0.49798	0.18233374	0.41153	-10.034	0.74115	D	.	.	0.232	0.49557	B	.;.	.;.	4.689784	0.75131	26.3	0.99929169722697253	0.99279	0.75418	0.36925	D	AEFBI	0.490513	0.52797	N	0.513205764579977	0.67868	5.139687	0.481865177775384	0.66789	4.998019	0.291533022378113	0.19092	0.67177	0.52595	0	0.702456	0.74545	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	5.53	4.5	0.54382	2.559000	0.45550	3.947000	0.40646	0.544000	0.25403	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.1647:0.8353:0.0:0.0	12.741	0.56627	116	0.95299	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	474.49	33	chr22	41794400	.	C	T	474.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.677;DP=206;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.56;ReadPosRankSum=0.567;SOR=0.534	GT:AD:DP:GQ:PL	0/1:15,20:35:99:485,0,363	6	0	1	0
chr22	42140383	42140383	G	A	exonic	CYP2D7	.	unknown	UNKNOWN	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.316e-05	0	0	0	0	0	0	0.0001	2.59e-05	4	154602	rs765764978	2.769e-05	2.941e-05	1.543e-05	4.024e-05	0.0004	2.073e-05	1.82e-05	0.0003	0.0003	0	2.753e-05	0	0	0	0	2.766e-06	3.427e-05	0.0004	3.942e-05	3.936e-05	2.571e-05	5.375e-05	0.0006	1.715e-05	1.129e-05	0.0002	9.003e-05	4.815e-05	0	0	0	0	0	0	1.471e-05	0	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	395.45	41	chr22	42140383	.	G	A	395.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.52;DP=239;ExcessHet=0;FS=1.485;MLEAC=1;MLEAF=0.071;MQ=57.13;MQRankSum=-1.056;QD=13.64;ReadPosRankSum=-1.703;SOR=1.11	GT:AD:DP:GQ:PL	0/1:14,15:29:99:406,0,318	6	0	1	0
chr22	43765381	43765381	T	A	exonic	EFCAB6	.	nonsynonymous SNV	EFCAB6:NM_022785:exon5:c.A364T:p.T122S	.	423	1096	3	0	0	3	0.00136674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	.	0.0071	0.00139776	0.0070	0.0010	0.0049	0	0.0057	0.0111	0.0045	0.0002	0.0068757	1063	154602	rs34459061	0.0090	0.0090	0.0094	0.0085	0.0104	0.0088	0.0088	0.0102	0.0102	0.0015	0.0060	0.0172	2.525e-05	0.0058	0.0007	0.0104	0.0074	0.0003	0.0070	0.0071	0.0073	0.0068	0.0099	0.0067	0.0066	0.0093	0.0091	0.0017	0.0526	0.0087	0.0193	0	0.0049	0	0.0099	0.0114	0	0.848	0.02753	T	1.0	0.01155	T	0.001	0.07471	B	0.001	0.04355	B	0.424463	0.12828	N	0.708126	1	0.81001	D	-2.19	0.00126	N	1.82	0.25018	T	0.52	0.02853	N	0.086	0.07949	-0.9785	0.35345	T	0.008	0.02926	T	10	0.0036314428	0.00066	T	.	.	.	0.030	0.07022	0.335	0.32329	0.167679373172	0.16340	0.11220863348565291	0.11149	0.050289316464	0.05517	0.278401970863	0.07271	T	9.35E-4	0.00486	T	-0.667604	0.00057	T	-0.721356	0.04730	T	0.00442526136119251	0.00047	T	0.317668	0.06361	T	0.01921504	0.00448	0.026221674	0.00700	0.01921504	0.00448	0.026221674	0.00700	-2.416	0.05232	T	.	.	0.075	0.08272	B	.;.	.;.	-0.239309	0.02897	0.416	0.2138202325986811	0.00812	0.48125	0.28137	N	AEFDI	0.140390	0.26228	N	-1.3891362336203	0.02739	0.1213854	-1.1870789575731	0.06125	0.2938617	1.2972034052915E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	4.34	0.998	0.18975	0.033000	0.13642	0.002000	0.13306	-0.770000	0.03453	0.977000	0.34929	0.847000	0.27355	0.071000	0.16709	0.178:0.1013:0.1852:0.5355	1.362	0.02061	917	0.20147	DJBP, EF-hand domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.005051	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	315.46	39	chr22	43765381	.	T	A	315.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.176;DP=208;ExcessHet=0;FS=1.483;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.88;ReadPosRankSum=-1.426;SOR=0.368	GT:AD:DP:GQ:PL	0/1:13,16:29:99:326,0,340	6	0	1	0
chr22	46259709	46259709	A	G	exonic	PKDREJ	.	nonsynonymous SNV	PKDREJ:NM_006071:exon1:c.T3614C:p.L1205S	.	436	1083	3	0	0	3	0.00138313	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.199	.	.	0.00219649	0.0006	0	0.0003	0	0	1.498e-05	0	0.0042	0.0005498	85	154602	rs550972920	0.0003	0.0003	0.0002	0.0004	0.0044	0.0003	0.0003	0.0040	0.0039	0	0.0003	0	2.519e-05	0	0.0010	2.428e-05	0.0003	0.0044	0.0002	0.0002	0.0002	0.0002	0.0056	0.0002	0.0001	0.0039	0.0034	2.406e-05	0	0.0003	0	0.0002	0	0	1.47e-05	0	0.0056	0.006	0.61437	D	0.003	0.76473	D	0.997	0.70673	D	0.923	0.65830	D	0.032143	0.25069	N	0.324362	0.793639	0.34419	D	2.71	0.79292	M	1.25	0.36512	T	-2.2	0.49519	N	0.558	0.58287	-0.7587	0.57476	T	0.170	0.51117	T	10	0.008106589	0.00184	T	.	.	.	0.199	0.48268	0.544	0.65731	0.672866344077	0.67010	0.533329263533615	0.53257	.	.	0.317353665829	0.13020	T	0.302097	0.67451	T	-0.367162	0.03741	T	-0.300461	0.44676	T	0.163015880463444	0.18091	T	0.586341	0.21412	T	0.1797916	0.39068	0.25106245	0.50710	0.1797916	0.39067	0.25106245	0.50709	-4.76	0.34121	T	.	.	0.258	0.49295	B	.	.	3.593008	0.50711	23.0	0.99783313488136538	0.86955	0.54386	0.29603	D	AEFBI	0.169245	0.29607	N	0.22727749887082	0.52525	3.426064	0.142156492960734	0.46729	2.914101	0.999998689098621	0.74766	0.582742	0.33608	0	0.563428	0.19063	0	0.61531	0.40942	0	0.530356	0.10902	0	.	.	5.23	5.23	0.72570	3.013000	0.49270	6.788000	0.56599	0.756000	0.94297	0.390000	0.26087	0.990000	0.31317	0.715000	0.34611	1.0:0.0:0.0:0.0	13.152	0.58912	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1218.44	47	chr22	46259709	.	A	G	1218.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.705;DP=338;ExcessHet=0;FS=6.965;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.85;ReadPosRankSum=0.643;SOR=0.516	GT:AD:DP:GQ:PL	0/1:39,49:88:99:1229,0,925	6	0	1	0
chr22	49922304	49922304	C	0	exonic	CRELD2	.	.	.	.	445	520	288	49	220	606	0.270687	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	5658.53	33	chr22	49922304	.	C	*	5658.53	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.186;DP=333;ExcessHet=0.1336;FS=1.933;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=25.37;ReadPosRankSum=1.9;SOR=0.528	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:23,22:45:99:0|1:49922284_CG_C:708,0,870:49922284	5	0	1	1
chr22	50179140	50179140	G	A	exonic	PANX2	.	nonsynonymous SNV	PANX2:NM_052839:exon3:c.G1897A:p.E633K	.	418	1103	1	0	0	1	0.000453104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.263	0.177497522973	.	0.000599042	0.0005	0	0	0	0	1.611e-05	0	0.0032	0.0003687	57	154602	rs541947611	0.0002	0.0002	9.268e-05	0.0002	0.0022	0.0001	0.0001	0.0019	0.0018	0	2.24e-05	0	0.0001	0	0.0002	2.519e-05	0.0001	0.0022	5.91e-05	5.905e-05	2.57e-05	9.402e-05	0.0017	3.076e-05	2.209e-05	0.0008	0.0006	0	0	0	0	0.0002	0	0	0	0	0.0017	0.0	0.91255	D	0.015	0.61642	D	0.999	0.77913	D	0.959	0.70163	D	0.215755	0.03419	N	2.393050	0.999981	0.81001	D	0.805	0.20218	L	1.36	0.34452	T	-0.62	0.18248	N	0.632	0.64563	-0.9547	0.40149	T	0.180	0.52705	T	9	0.019598573	0.00440	T	0.177498	0.85292	D	0.263	0.57612	0.328	0.31196	0.42081714158	0.41701	0.8056698406055091	0.80521	0.576832783302	0.53635	0.760996580124	0.76076	T	0.035009	0.23549	T	-0.253079	0.13724	T	-0.141234	0.60012	T	0.214037181364723	0.21162	T	0.916408	0.70110	D	0.33943006	0.56234	0.33544025	0.59357	0.33943006	0.56234	0.33544025	0.59357	-4.926	0.36026	T	.	.	0.728	0.74131	P	.	.	5.718858	0.93214	33	0.99907384094260543	0.97801	0.99094	0.91137	D	AEFDBI	0.863275	0.78177	D	0.434949767373359	0.63356	4.567636	0.413247298113903	0.62389	4.453505	0.999999985531919	0.74766	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.699875	0.68795	0	.	.	3.72	3.72	0.41857	7.724000	0.83759	11.460000	0.92824	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.965000	0.52897	0.0:0.0:1.0:0.0	15.997	0.80051	697	0.58201	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.07143	325.49	39	chr22	50179140	.	G	A	325.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.732;DP=214;ExcessHet=0;FS=3.256;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.5;ReadPosRankSum=-0.381;SOR=1.071	GT:AD:DP:GQ:PL	0/1:18,13:31:99:336,0,461	6	0	1	0
chr22	50505766	50505766	T	G	exonic	LMF2	.	nonsynonymous SNV	LMF2:NM_001363816:exon6:c.A749C:p.N250T,LMF2:NM_033200:exon6:c.A824C:p.N275T	.	.	.	.	.	.	.	.	.	.	.	2711919	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.243	0.0219933194048	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.791e-06	4.788e-06	5.448e-06	4.128e-06	4.637e-05	1.99e-06	1.28e-06	1.583e-05	9.3e-06	0	0	0	0	0	0	8.993e-07	3.313e-05	4.637e-05	6.574e-06	6.568e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0	0.91255	D	0.006	0.70582	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.089528	0.999997	0.58761	D	4.12	0.97420	H	1.48	0.31731	T	-5.51	0.85921	D	0.828	0.83781	0.359	0.88476	D	0.580	0.84885	D	10	0.94170415	0.93495	D	0.021993	0.44830	T	0.510	0.78971	0.848	0.95084	0.0551355673512	0.04727	0.9652175480546444	0.96508	.	.	0.541390776634	0.44642	T	0.333749	0.70357	T	0.0811278	0.62173	D	-0.121242	0.61701	T	0.998892486095428	0.95503	D	0.923708	0.83469	D	0.86839706	0.88735	0.69519615	0.82055	0.86839706	0.88736	0.69519615	0.82056	-11.773	0.83727	D	.	.	0.718	0.75115	P	.;.	.;.	4.243650	0.64354	24.7	0.99473300807510345	0.66472	0.97502	0.75165	D	AEFBI	0.813587	0.73602	D	0.446053552895218	0.63978	4.642562	0.407781746136385	0.62047	4.41399	0.999999997623923	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.79	4.79	0.60909	3.681000	0.54382	7.770000	0.68454	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.555000	0.30293	0.0:0.0:0.0:1.0	11.035	0.47014	721	0.55360	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	521.53	36	chr22	50505766	.	T	G	521.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.429;DP=270;ExcessHet=0;FS=7.06;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.69;ReadPosRankSum=-0.053;SOR=1.168	GT:AD:DP:GQ:PL	0/1:36,24:60:99:532,0,853	6	0	1	0
chr22	50738284	50738284	G	A	exonic	ACR	.	nonsynonymous SNV	ACR:NM_001097:exon1:c.G49A:p.V17M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.318	0.191611966607	.	.	0.0001	0	0.0003	0	0	1.504e-05	0	0.0007	0.0001035	16	154602	rs779879875	6.089e-05	6.088e-05	4.356e-05	7.838e-05	0.0006	5.028e-05	4.672e-05	0.0005	0.0004	0	0.0002	0	2.519e-05	0	0	2.158e-05	4.968e-05	0.0006	6.573e-06	1.313e-05	1.285e-05	0	6.545e-05	0	0	.	.	0	0	6.545e-05	0	0	0	0	0	0	0	0.016	0.51853	D	0.015	0.61642	D	0.997	0.70673	D	0.828	0.59497	P	0.005255	0.32962	N	0.000000	0.999336	0.21346	N	0.975	0.24501	L	-2.52	0.93170	D	-0.4	0.14193	N	0.406	0.44666	0.201	0.85927	D	0.784	0.92656	D	10	0.32431144	0.49756	T	0.191612	0.86194	D	0.318	0.64008	0.488	0.57257	0.940011758961	0.93938	0.35330179692995717	0.35244	.	.	0.485118746758	0.36763	T	0.326759	0.69734	T	-0.200136	0.20785	T	-0.164464	0.57948	T	0.134987264871597	0.15835	T	.	.	.	0.08902386	0.20788	0.17738152	0.40337	0.08902386	0.20787	0.17738152	0.40336	-7.455	0.57293	T	.	.	0.139	0.41858	B	.;.	.;.	3.638303	0.51572	23.1	0.99789776173288403	0.87572	0.70159	0.34476	D	AEFBI	0.094102	0.19031	N	0.215438271292266	0.51949	3.372202	0.118800317735188	0.45510	2.812959	0.457305588341716	0.20593	0.59774	0.34471	0	0.563428	0.19063	0	0.596491	0.31596	0	0.664235	0.64389	0	.	.	3.95	3.95	0.44952	1.716000	0.37601	8.634000	0.77865	0.676000	0.76740	0.017000	0.19353	1.000000	0.68203	0.015000	0.10482	0.0:0.0:1.0:0.0	11.792	0.51347	689	0.59000	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	408.49	35	chr22	50738284	.	G	A	408.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.06;DP=208;ExcessHet=0;FS=3.269;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.77;ReadPosRankSum=1.04;SOR=0.264	GT:AD:DP:GQ:PL	0/1:13,19:32:99:419,0,281	6	0	1	0
chrX	8466096	8466155	GAACCACTGAGTCAGGAGAGCGAGGTGGAGGAACCACTGAGTCAGGAGAGCGAGGTGGAA	-	exonic	VCX3B	.	nonframeshift deletion	VCX3B:NM_001001888:exon3:c.454_513del:p.E159_S178del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008	0.0031	0.0011	4.858e-05	0.0127	0.0008	0.0007	0.0114	0.0108	0.0012	0.0016	0.0007	0.0127	0.0013	0.0016	0.0004	0.0013	0.0012	5.357e-05	0.0011	6.405e-05	0	0.0003	8.88e-06	3.32e-06	.	.	0.0003	0	0	0	0	0	0	0	0.0021	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	81.72	7	chrX	8466095	.	GGAACCACTGAGTCAGGAGAGCGAGGTGGAGGAACCACTGAGTCAGGAGAGCGAGGTGGAA	G	81.72	.	AC=2;AF=0.143;AN=14;DP=274;ExcessHet=0;FS=3.09;MLEAC=1;MLEAF=0.071;MQ=34.08;MQRankSum=0.319;QD=20.43;SOR=0.078	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:1,3:4:8:1|1:8466065_A_G:99,8,0:8466065	6	1	0	0
chrX	8466125	8466215	GGAACCACTGAGTCAGGAGAGCGAGGTGGAAGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACTGAGTCAGGAGAGCGAGGTGGAA	0	exonic	VCX3B	.	.	.	.	573	905	12	5	27	49	0.0120087	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	2198.08	4	chrX	8466125	.	GGAACCACTGAGTCAGGAGAGCGAGGTGGAAGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACTGAGTCAGGAGAGCGAGGTGGAA	*	2198.08	.	AC=4;AF=0.286;AN=14;BaseQRankSum=1.6;DP=334;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.214;MQ=40.09;MQRankSum=0.911;QD=26.17;ReadPosRankSum=0.677;SOR=0.884	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:1,3:4:8:1|1:8466065_A_G:99,8,0:8466065	5	2	0	0
chrX	9896510	9896510	C	T	exonic	SHROOM2	.	nonsynonymous SNV	SHROOM2:NM_001649:exon4:c.C2602T:p.R868W	.	434	1087	0	1	0	2	0.000919118	.	.	.	3914300	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.058	0.233088401425	9.5e-05	.	1.349e-05	0	0	0	0	2.472e-05	0	0	1.29e-05	2	154602	rs374462030	2.828e-05	2.823e-05	3.132e-05	2.212e-05	0.0017	2.027e-05	1.766e-05	0.0008	0.0006	3.79e-05	0	5.171e-05	3.314e-05	0	0.0017	2.14e-05	6.522e-05	0	2.649e-05	2.61e-05	2.568e-05	2.827e-05	0.0003	7.04e-06	2.95e-06	.	.	0	0	0	0	0.0003	0	0.0042	1.872e-05	0	0	0.001	0.78490	D	0.004	0.74150	D	0.985	0.61118	D	0.232	0.38314	B	0.051849	0.22945	N	0.468148	1	0.08975	N	0.55	0.14455	N	2.31	0.16794	T	-3.9	0.72932	D	0.12	0.11054	-1.0139	0.25688	T	0.024	0.10148	T	10	0.15007964	0.28393	T	0.233088	0.88350	D	0.058	0.16647	.	.	0.301455362545	0.29754	0.18675493367277649	0.18593	0.0886919329349	0.10031	0.241592794657	0.02935	T	0.149308	0.48825	T	-0.513136	0.00482	T	-0.784478	0.02321	T	0.330490240363309	0.26244	T	0.908009	0.67517	D	0.106937625	0.25287	0.11844237	0.28591	0.106937625	0.25287	0.11844237	0.28590	-7.444	0.57215	T	.	.	0.137	0.29860	B	.	.	1.498619	0.19271	14.18	0.99347287718905986	0.60452	0.28654	0.23613	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.999862890474209	0.44398	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.02	2.15	0.26590	0.915000	0.28260	0.721000	0.21012	0.596000	0.33519	0.155000	0.23727	0.000000	0.08366	0.001000	0.02609	0.1467:0.6428:0.1326:0.0779	5.708	0.17191	937	0.14592	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.000688	0.000000	0.000000	0.003953	0.000000	0.000000	0.000000	0.000000	0.1429	1048.23	35	chrX	9896510	.	C	T	1048.23	.	AC=2;AF=0.143;AN=14;DP=221;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=29.95;SOR=1.148	GT:AD:DP:GQ:PL	1/1:0,35:35:99:1069,105,0	6	1	0	0
chrX	40659236	40659236	C	G	exonic	MED14	.	nonsynonymous SNV	MED14:NM_004229:exon28:c.G3963C:p.K1321N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.390	0.17489678043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	9.112e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.007	0.69154	D	0.895	0.49247	P	0.452	0.46163	P	0.000000	0.84330	D	0.000000	0.999994	0.58761	D	1.495	0.37439	L	.	.	.	-2.46	0.67477	N	0.728	0.72925	-0.9858	0.33639	T	0.121	0.42079	T	9	0.45023692	0.58652	T	0.174897	0.85114	D	0.390	0.70603	0.391	0.41443	0.65440912122	0.65152	0.8579709212488796	0.85760	2.13339230401	0.95189	0.920231461525	0.98341	D	0.282649	0.65539	T	0.0206146	0.54464	T	-0.208165	0.53871	T	0.937414467334747	0.60718	D	0.971903	0.89805	D	0.74301934	0.80465	0.57960075	0.75634	0.74301934	0.80467	0.57960075	0.75635	-4.488	0.30731	T	.	.	0.939	0.91004	P	.;.;.	.;.;.	3.095469	0.41698	21.4	0.99746837329826044	0.83927	0.88740	0.48813	D	AEFBI	.	.	.	.	.	.	.	.	.	0.653678985306803	0.22192	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.35	0.625	0.16838	0.563000	0.23250	0.590000	0.19811	0.599000	0.40250	0.998000	0.41325	0.999000	0.35428	1.000000	0.97212	0.0:0.4794:0.0:0.5206	9.651	0.39059	768	0.49510	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2143	93.77	35	chrX	40659236	.	C	G	93.77	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-1.591;DP=581;ExcessHet=1.1394;FS=178.225;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=0.35;ReadPosRankSum=0.678;SOR=10.021	GT:AD:DP:GQ:PL	0/1:28,13:41:15:15,0,326	4	0	3	0
chrX	49332776	49332776	A	T	exonic	GAGE13;GAGE2D;GAGE2E;GAGE8	.	nonsynonymous SNV	GAGE2D:NM_001098407:exon2:c.A39T:p.R13S,GAGE13:NM_001098412:exon2:c.A39T:p.R13S,GAGE2E:NM_001127200:exon2:c.A39T:p.R13S,GAGE8:NM_012196:exon2:c.A39T:p.R13S	.	548	918	55	1	0	57	0.0301109	.	.	.	3977508	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.009	0.0963211805793	.	.	0.0021	0	0	0.0870	0	0	0	0.0127	.	.	.	rs782197330	0.0004	0.0024	0.0006	1.027e-05	0.0011	0.0004	0.0004	0.0008	0.0007	0.0002	0.0011	0.0007	0.0004	0.0004	0.0006	0.0004	0.0003	0.0002	0.0003	0.0033	0.0004	0	0.0005	0.0002	0.0002	0.0002	0.0002	0.0003	0	0	0	0	0.0015	0	0.0005	0	0	.	.	.	0.065	0.44702	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.179	0.19325	-1.0272	0.21363	T	0.034	0.14639	T	8	0.10150775	0.18551	T	0.096321	0.76582	D	.	.	.	.	0.0551355673512	0.04727	0.044374252869738985	0.04381	.	.	0.481666773558	0.36287	T	0.023792	0.18095	T	-0.449224	0.01141	T	-0.883056	0.00629	T	0.489776283502579	0.32256	T	0.334567	0.07109	T	0.41984916	0.62081	0.30143943	0.56176	0.41984916	0.62082	0.30143943	0.56175	-4.846	0.35123	T	.	.	0.287	0.51951	B	.	.	1.310242	0.17132	12.98	0.98174813158402829	0.38890	0.00875	0.03461	N	AEFI	.	.	.	.	.	.	.	.	.	1.42886845054689E-6	0.01202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.78	0.78	0.17701	-0.334000	0.07927	-1.097000	0.06340	-0.565000	0.04808	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	.	.	.	53	0.97589	GAGE|GAGE	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0.034783	0.047619	0.007092	0.026316	0.000000	0.000000	0.106383	0.062500	0.1667	127.29	3	chrX	49332776	.	A	T	127.29	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-1.282;DP=27;ExcessHet=0.4139;FS=11.139;MLEAC=2;MLEAF=0.167;MQ=27.58;MQRankSum=0;QD=10.61;ReadPosRankSum=2.19;SOR=0.019	GT:AD:DP:GQ:PL	0/1:1,4:5:17:84,0,17	4	0	2	1
chrX	55146104	55146104	G	A	exonic	FAM104B	.	stopgain	FAM104B:NM_001166700:exon3:c.C331T:p.R111X,FAM104B:NM_001166701:exon3:c.C328T:p.R110X,FAM104B:NM_001166702:exon3:c.C319T:p.R107X,FAM104B:NM_001166703:exon3:c.C325T:p.R109X	.	438	7	893	184	0	1261	0.98902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0.0042	0	0	0.0002	7.025e-05	0	0.0001	0.0310669	4803	154602	rs1047054	7.297e-06	9.106e-06	9.533e-06	2.762e-06	3.791e-05	3.14e-06	2.27e-06	6.14e-06	2.3e-06	3.791e-05	0	0	0	0	0	5.942e-06	0	3.701e-05	1.802e-05	1.746e-05	1.286e-05	3.013e-05	0.0004	2.99e-06	1.12e-06	.	.	3.282e-05	0	0	0	0	0	0	0	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.984587	0.24787	N	.	.	.	.	.	.	.	.	.	0.121	0.18512	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.334032	0.85436	D	0.242037	0.85245	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	4.503254	0.70449	25.5	0.92570320911590998	0.22025	0.23489	0.22092	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999986651300857	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	0.637	0.16907	1.269000	0.32677	-0.938000	0.06858	0.596000	0.33519	1.000000	0.71638	0.000000	0.08366	0.291000	0.24285	0.0:0.0:0.6198:0.3802	4.504	0.11285	314	0.87270	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.069015	0.068027	0.074212	0.055556	0.000000	0.094118	0.048673	0.068421	0.6429	77347.4	456	chrX	55146104	.	G	A	77347.4	.	AC=9;AF=0.643;AN=14;BaseQRankSum=1.09;DP=3383;ExcessHet=4.7409;FS=0.72;MLEAC=9;MLEAF=0.643;MQ=60;MQRankSum=0;QD=23.53;ReadPosRankSum=0.916;SOR=0.605	GT:AD:DP:GQ:PL	0/1:35,249:284:99:7168,0,125	0	2	5	0
chrX	55146139	55146139	G	A	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166700:exon3:c.C296T:p.T99I,FAM104B:NM_001166701:exon3:c.C293T:p.T98I,FAM104B:NM_001166702:exon3:c.C284T:p.T95I,FAM104B:NM_001166703:exon3:c.C290T:p.T97I	.	392	597	530	3	0	536	0.309827	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00183666452811	.	.	1.173e-05	0	0	0	0	2.144e-05	0	0	0.0003842	10	26028	rs111573608	0	2.735e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	8.719e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	1.2	0.37405	T	1.24	0.01024	N	0.218	0.30461	-0.9951	0.31272	T	0.031	0.13330	T	9	0.02422443	0.00659	T	0.001837	0.03193	T	0.027	0.05988	.	.	0.107399877778	0.10242	0.2636019881297539	0.26273	0.0855686498455	0.09666	.	.	.	.	.	.	-0.525263	0.00410	T	-0.99228	0.00154	T	0.0269564041948217	0.01537	T	0.618838	0.26722	T	.	.	.	.	.	.	.	.	-2.987	0.10042	T	.	.	0.077	0.10159	B	.;.;.	.;.;.	-0.509590	0.01836	0.146	0.55558757236298129	0.05367	0.01261	0.04425	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999998720991634	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	-3.2	0.04838	0.118000	0.15436	-7.508000	0.01142	-0.947000	0.02050	0.987000	0.36337	0.000000	0.08366	0.919000	0.45453	0.5556:0.0:0.4444:0.0	6.324	0.20437	314	0.87270	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.018776	0.006803	0.014842	0.027668	0.000000	0.023529	0.022124	0.021053	0.2143	7311.37	432	chrX	55146139	.	G	A	7311.37	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-1.007;DP=3394;ExcessHet=1.1394;FS=0.599;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=4.84;ReadPosRankSum=1.14;SOR=0.581	GT:AD:DP:GQ:PL	0/1:263,51:314:99:550,0,7114	4	0	3	0
chrX	55146173	55146173	G	A	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166700:exon3:c.C262T:p.P88S,FAM104B:NM_001166701:exon3:c.C259T:p.P87S,FAM104B:NM_001166702:exon3:c.C250T:p.P84S,FAM104B:NM_001166703:exon3:c.C256T:p.P86S	.	395	510	614	3	0	620	0.378049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.00397070644289	.	.	0	0	0	0	0	0	0	0	0.0018057	47	26028	rs113745415	0	9.135e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	8.72e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.1	0.44029	T	0.019	0.59159	D	0.137	0.27402	B	0.013	0.16460	B	.	.	.	.	1	0.08975	N	.	.	.	1.03	0.40469	T	-0.15	0.09297	N	0.133	0.30461	-1.0449	0.15854	T	0.046	0.19680	T	9	0.10664967	0.19773	T	0.003971	0.09400	T	0.021	0.04004	.	.	0.0986583533028	0.09354	0.17703511721202211	0.17622	0.085900391515	0.09707	.	.	.	.	.	.	-0.47977	0.00741	T	-0.926933	0.00345	T	0.15306082367897	0.17345	T	0.714029	0.35027	T	.	.	.	.	.	.	.	.	-2.918	0.09324	T	.	.	0.099	0.18247	B	.;.;.	.;.;.	1.416818	0.18331	13.68	0.99268186498303135	0.57457	0.22113	0.21636	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999986653019121	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	0.635	0.16895	0.918000	0.28299	0.017000	0.13531	0.596000	0.33519	0.999000	0.42656	0.000000	0.08366	0.033000	0.13494	0.0:0.0:0.6213:0.3787	4.527	0.11390	314	0.87270	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.011073	0.020408	0.009276	0.003953	0.000000	0.035294	0.013274	0.005263	0.2857	7932.13	432	chrX	55146173	.	G	A	7932.13	.	AC=4;AF=0.286;AN=14;BaseQRankSum=1.6;DP=3372;ExcessHet=2.5225;FS=1.254;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=5.16;ReadPosRankSum=0.486;SOR=0.613	GT:AD:DP:GQ:PL	0/1:261,49:310:99:552,0,7163	3	0	4	0
chrX	55146197	55146197	G	A	exonic	FAM104B	.	stopgain	FAM104B:NM_001166699:exon3:c.C238T:p.Q80X,FAM104B:NM_001166700:exon3:c.C238T:p.Q80X,FAM104B:NM_001166701:exon3:c.C235T:p.Q79X,FAM104B:NM_001166702:exon3:c.C226T:p.Q76X,FAM104B:NM_001166703:exon3:c.C232T:p.Q78X,FAM104B:NM_138362:exon3:c.C235T:p.Q79X	.	397	483	637	5	0	647	0.401116	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0009	0.0037	0.0002	0.0034	0.0004	0.0003	0	0.0012	0.0033426	87	26028	rs113263757	2.052e-05	0.0007	3.012e-05	0	0.0002	1.343e-05	1.147e-05	5.37e-05	3.17e-05	0.0002	0	0	0.0001	0	0	1.458e-05	4.432e-05	1.939e-05	0	5.238e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.066869	0.21780	U	0.325359	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.281	0.36359	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.166988	0.70845	D	0.00208969	0.70471	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant;.;Tolerant;.;.	High;.;High;.;.	5.479427	0.91365	32	0.96222129513840093	0.29091	0.25851	0.22822	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999994922950989	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	1.6	0.22686	1.881000	0.39273	1.530000	0.27153	0.596000	0.33519	0.820000	0.29989	0.004000	0.18990	0.022000	0.11911	0.0:0.0:1.0:0.0	6.091	0.19219	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.038244	0.034014	0.051948	0.011858	0.000000	0.058824	0.026549	0.036842	0.2857	6567.13	367	chrX	55146197	.	G	A	6567.13	.	AC=4;AF=0.286;AN=14;BaseQRankSum=2.82;DP=3136;ExcessHet=2.5225;FS=1.3;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=4.89;ReadPosRankSum=1.02;SOR=0.703	GT:AD:DP:GQ:PL	0/1:234,51:285:99:754,0,6669	3	0	4	0
chrX	55146212	55146212	C	T	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.G223A:p.D75N,FAM104B:NM_001166700:exon3:c.G223A:p.D75N,FAM104B:NM_001166701:exon3:c.G220A:p.D74N,FAM104B:NM_001166702:exon3:c.G211A:p.D71N,FAM104B:NM_001166703:exon3:c.G217A:p.D73N,FAM104B:NM_138362:exon3:c.G220A:p.D74N	.	432	10	1015	52	13	1132	0.982441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.00302221843962	.	0.0013245	0.0001	0.0014	0	0	0	2.118e-05	0	0	0.0081067	211	26028	rs1047042	4.61e-06	4.563e-06	5.457e-06	2.843e-06	3.873e-05	1.35e-06	9.8e-07	6.25e-06	2.34e-06	3.873e-05	0	5.196e-05	0	0	0	1.202e-06	0	3.766e-05	9.039e-06	8.741e-06	1.287e-05	0	9.612e-05	0	0	.	.	0	0	9.612e-05	0	0	0	0	0	0	0	0.675	0.04495	T	1.0	0.06345	T	0.003	0.11197	B	0.0	0.04355	B	0.171170	0.17370	N	0.505297	1	0.08975	P	-0.49	0.02651	N	1.04	0.40218	T	0.87	0.01688	N	0.132	0.13626	-1.0454	0.15709	T	0.035	0.15160	T	9	0.0060353875	0.00136	T	0.003022	0.06487	T	0.012	0.01476	0.247	0.18293	0.0806252709748	0.07271	0.0651596601341745	0.06454	0.0775316632676	0.08717	0.25642067194	0.04473	T	0.008956	0.08187	T	-0.596363	0.00153	T	-1.09441	0.00031	T	0.0048729239977625	0.00052	T	0.519848	0.16911	T	0.03745953	0.04805	0.041539483	0.04745	0.03745953	0.04805	0.041539483	0.04745	-3.393	0.14963	T	.	.	0.058	0.00614	B	.;.;.;.;.	.;.;.;.;.	-0.711233	0.01295	0.069	0.1342819324597182	0.00264	0.00118	0.00744	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999988775956904	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	-1.04	0.09555	0.059000	0.14199	-2.996000	0.03156	-0.242000	0.07441	0.003000	0.16062	0.000000	0.08366	0.015000	0.10482	0.0:0.4679:0.0:0.5321	4.225	0.10030	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	71907.1	363	chrX	55146212	.	C	T	71907.1	.	AC=7;AF=0.5;AN=14;BaseQRankSum=1.54;DP=3046;ExcessHet=14.2834;FS=0;MLEAC=7;MLEAF=0.5;MQ=60;MQRankSum=0;QD=24.81;ReadPosRankSum=0.683;SOR=0.621	GT:AD:DP:GQ:PL	0/1:46,206:260:99:5901,0,507	0	0	7	0
chrX	55146242	55146242	C	T	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.G193A:p.G65S,FAM104B:NM_001166700:exon3:c.G193A:p.G65S,FAM104B:NM_001166701:exon3:c.G190A:p.G64S,FAM104B:NM_001166702:exon3:c.G181A:p.G61S,FAM104B:NM_001166703:exon3:c.G187A:p.G63S,FAM104B:NM_138362:exon3:c.G190A:p.G64S	.	381	695	446	0	0	446	0.242919	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.00575512673883	.	.	1.14e-05	0	0	0	0	0	0	9.881e-05	0.0002199	34	154602	rs751109928	9.107e-07	9.105e-07	1.361e-06	0	1.847e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.847e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.496	0.08685	T	0.847	0.04029	T	0.988	0.62325	D	0.931	0.76916	D	0.181380	0.17093	N	0.523101	1	0.08975	N	-0.405	0.02972	N	1.06	0.39781	T	0.88	0.01688	N	0.111	0.10340	-1.0096	0.27043	T	0.074	0.29897	T	10	0.024912208	0.00703	T	0.005755	0.14922	T	0.094	0.27141	0.117	0.02508	0.124217242631	0.12060	0.06545832632961472	0.06484	0.113139730866	0.12771	0.240586742759	0.02843	T	0.003551	0.02960	T	-0.539992	0.00335	T	-0.863145	0.00810	T	0.0237543456519899	0.01114	T	0.722728	0.37993	T	0.05084061	0.09248	0.06469397	0.13002	0.05084061	0.09248	0.06469397	0.13002	-2.72	0.09386	T	.	.	0.081	0.08176	B	.;.;.;.;.	.;.;.;.;.	0.646134	0.10147	6.889	0.73921017372164155	0.10504	0.01488	0.04944	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999986279423699	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	0.436	0.15762	0.673000	0.24883	0.315000	0.17124	-0.343000	0.05659	0.980000	0.35271	0.000000	0.08366	0.977000	0.56843	0.0:0.3059:0.0:0.6941	2.954	0.05513	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2857	6361.13	283	chrX	55146242	.	C	T	6361.13	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-0.016;DP=2488;ExcessHet=2.5225;FS=0;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=4.22;ReadPosRankSum=0.945;SOR=0.691	GT:AD:DP:GQ:PL	0/1:159,50:209:99:883,0,5236	3	0	4	0
chrX	55146247	55146247	G	C	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.C188G:p.P63R,FAM104B:NM_001166700:exon3:c.C188G:p.P63R,FAM104B:NM_001166701:exon3:c.C185G:p.P62R,FAM104B:NM_001166702:exon3:c.C176G:p.P59R,FAM104B:NM_001166703:exon3:c.C182G:p.P61R,FAM104B:NM_138362:exon3:c.C185G:p.P62R	.	398	590	530	4	0	538	0.313155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.0130273709953	.	.	.	.	.	.	.	.	.	.	0.0032657	85	26028	rs111638770	9.115e-07	9.107e-07	1.361e-06	0	1.848e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.848e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.006	0.72224	D	0.752	0.77913	P	0.071	0.79672	B	0.181519	0.17089	U	0.482281	1	0.18198	N	1.79	0.46772	L	0.49	0.55775	T	-6.46	0.91956	D	0.329	0.36989	-0.9561	0.39898	T	0.213	0.57334	T	10	0.25765532	0.43183	T	0.013027	0.32109	T	0.133	0.36157	0.439	0.49321	0.176091768786	0.17195	0.15725273701375614	0.15646	0.462644719079	0.45794	0.299729704857	0.10360	T	0.09323	0.39168	T	-0.104812	0.35627	T	-0.388332	0.34746	T	0.953682541847229	0.64085	D	0.80372	0.51656	T	0.38991144	0.60026	0.48550862	0.70220	0.38991144	0.60026	0.48550862	0.70221	-3.385	0.15177	T	.	.	0.146	0.32275	B	.;.;.;.;.	.;.;.;.;.	2.836954	0.37416	20.5	0.99573153193770736	0.72501	0.41324	0.26632	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999994922950989	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	1.6	0.22686	2.239000	0.42728	2.405000	0.32612	0.596000	0.33519	0.999000	0.42656	0.987000	0.30940	0.973000	0.55318	0.0:0.0:1.0:0.0	6.091	0.19219	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.013879	0.020408	0.018553	0.003953	0.000000	0.023529	0.013274	0.005263	0.2857	5365.13	241	chrX	55146247	.	G	C	5365.13	.	AC=4;AF=0.286;AN=14;BaseQRankSum=0.165;DP=2350;ExcessHet=2.5225;FS=0.657;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=5.83;ReadPosRankSum=-0.657;SOR=0.768	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:174,25:199:99:0|1:55146247_G_C:463,0,7094:55146247	3	0	4	0
chrX	55146252	55146252	-	T	exonic	FAM104B	.	frameshift insertion	FAM104B:NM_001166699:exon3:c.182_183insA:p.S61Rfs*13,FAM104B:NM_001166700:exon3:c.182_183insA:p.S61Rfs*13,FAM104B:NM_001166701:exon3:c.179_180insA:p.S60Rfs*13,FAM104B:NM_001166702:exon3:c.170_171insA:p.S57Rfs*13,FAM104B:NM_001166703:exon3:c.176_177insA:p.S59Rfs*13,FAM104B:NM_138362:exon3:c.179_180insA:p.S60Rfs*13	.	390	569	526	3	34	566	0.318563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	5298.09	241	chrX	55146252	.	A	AT	5298.09	.	AC=4;AF=0.286;AN=14;BaseQRankSum=1.55;DP=2302;ExcessHet=2.5225;FS=0.655;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=5.98;ReadPosRankSum=-1.221;SOR=0.794	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:162,24:187:99:.:.:478,0,6864:.	3	0	4	0
chrX	55146254	55146254	T	C	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.A181G:p.S61G,FAM104B:NM_001166700:exon3:c.A181G:p.S61G,FAM104B:NM_001166701:exon3:c.A178G:p.S60G,FAM104B:NM_001166702:exon3:c.A169G:p.S57G,FAM104B:NM_001166703:exon3:c.A175G:p.S59G,FAM104B:NM_138362:exon3:c.A178G:p.S60G	.	431	15	1050	26	0	1102	0.973498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.0041360361776	.	.	0	0	0	0	0	0	0	0	0.0095666	249	26028	rs1047037	9.142e-07	4.651e-05	1.362e-06	0	1.191e-06	0	0	.	.	0	0	0	0	0	0	1.191e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.115	0.36630	T	0.18	0.29046	B	0.013	0.26930	B	0.022656	0.26593	N	0.266251	1	0.08975	N	1.125	0.28843	L	0.62	0.53302	T	-3.25	0.65972	D	0.165	0.17691	-1.0460	0.15534	T	0.083	0.32556	T	10	0.08577216	0.14513	T	0.004136	0.09900	T	0.075	0.21907	0.066	0.00312	0.141422826196	0.13715	0.08695167493373998	0.08629	0.0811463258042	0.09130	0.299347400665	0.10303	T	0.051814	0.28986	T	-0.403148	0.02207	T	-0.816871	0.01517	T	0.062755441338216	0.07595	T	0.529347	0.19916	T	0.15294263	0.34692	0.18436645	0.41484	0.15294263	0.34692	0.18436645	0.41484	-4.147	0.26024	T	.	.	0.074	0.04932	B	.;.;.;.;.	.;.;.;.;.	0.505601	0.08746	5.521	0.88816084291515585	0.18278	0.01111	0.04064	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999988486351367	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	-0.917	0.09952	0.342000	0.19669	0.018000	0.13546	0.587000	0.30956	0.001000	0.13787	0.000000	0.08366	0.925000	0.46118	0.0:0.4736:0.0:0.5264	4.198	0.09911	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	46390.1	239	chrX	55146254	.	T	C	46390.1	.	AC=7;AF=0.5;AN=14;BaseQRankSum=0.127;DP=2318;ExcessHet=14.2834;FS=2.658;MLEAC=7;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.82;ReadPosRankSum=-0.102;SOR=0.514	GT:AD:DP:GQ:PL	0/1:65,117:182:99:3049,0,2149	0	0	7	0
chrX	55146256	55146256	G	-	exonic	FAM104B	.	frameshift deletion	FAM104B:NM_001166699:exon3:c.179delC:p.A60Efs*8,FAM104B:NM_001166700:exon3:c.179delC:p.A60Efs*8,FAM104B:NM_001166701:exon3:c.176delC:p.A59Efs*8,FAM104B:NM_001166702:exon3:c.167delC:p.A56Efs*8,FAM104B:NM_001166703:exon3:c.173delC:p.A58Efs*8,FAM104B:NM_138362:exon3:c.176delC:p.A59Efs*8	.	387	620	513	2	0	517	0.294252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	5246.09	181	chrX	55146255	.	TG	T	5246.09	.	AC=4;AF=0.286;AN=14;BaseQRankSum=0.588;DP=2026;ExcessHet=2.5225;FS=0.657;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=6.16;ReadPosRankSum=-1.383;SOR=0.761	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:159,24:183:99:0|1:55146247_G_C:502,0,6599:55146247	3	0	4	0
chrX	55146275	55146275	T	G	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.A160C:p.I54L,FAM104B:NM_001166700:exon3:c.A160C:p.I54L,FAM104B:NM_001166701:exon3:c.A157C:p.I53L,FAM104B:NM_001166702:exon3:c.A148C:p.I50L,FAM104B:NM_001166703:exon3:c.A154C:p.I52L,FAM104B:NM_138362:exon3:c.A157C:p.I53L	.	427	21	1052	22	0	1096	0.963093	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.0118030854457	.	.	1.142e-05	0	0	0	0	2.088e-05	0	0	0.0196828	3043	154602	rs1047034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.051	0.47828	T	0.105	0.26966	B	0.068	0.39904	B	0.152569	0.17919	U	0.451659	1	0.08975	N	1.955	0.52871	M	0.27	0.59176	T	-1.83	0.45042	N	0.551	0.57690	-0.8632	0.51032	T	0.155	0.48687	T	10	0.1871016	0.34206	T	0.011803	0.29782	T	0.098	0.28162	0.189	0.09907	0.0884992946249	0.08302	0.12338101866159702	0.12264	0.0928677804986	0.10486	0.449103206396	0.31821	T	0.163737	0.50891	T	-0.214808	0.18708	T	-0.546333	0.17678	T	0.224603921175003	0.21691	T	0.758424	0.38228	T	0.50850886	0.67592	0.29124478	0.55149	0.50850886	0.67593	0.29124478	0.55148	-2.996	0.10138	T	.	.	0.123	0.25689	B	.;.;.;.;.	.;.;.;.;.	1.130701	0.15173	11.64	0.8192711395344332	0.13930	0.34538	0.25091	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999989777015944	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	-1.26	0.08892	0.742000	0.25884	-6.329000	0.01429	-0.214000	0.08267	1.000000	0.71638	0.000000	0.08366	0.065000	0.16320	0.0:0.5197:0.0:0.4803	4.529	0.11402	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.000688	0.000000	0.000000	0.000000	0.000000	0.000000	0.004425	0.000000	0.5	45507.1	184	chrX	55146275	.	T	G	45507.1	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-0.077;DP=1901;ExcessHet=14.2834;FS=7.332;MLEAC=7;MLEAF=0.5;MQ=60;MQRankSum=0;QD=25.06;ReadPosRankSum=-2.887;SOR=0.338	GT:AD:DP:GQ:PL	0/1:33,103:136:99:2996,0,597	0	0	7	0
chrX	64268644	64268644	A	T	exonic	MTMR8	.	nonsynonymous SNV	MTMR8:NM_017677:exon14:c.T2008A:p.L670M	.	432	1074	10	6	0	22	0.0101382	.	.	.	3199517	MTMR8-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.062	.	0.0027	0.00317881	0.0073	0.0008	0.0016	0	0.0450	0.0081	0.0223	0.0007	0.0063841	987	154602	rs73227152	0.0066	0.0066	0.0067	0.0064	0.0092	0.0065	0.0064	0.0069	0.0061	0.0006	0.0022	0.0255	0	0.0416	0.0092	0.0054	0.0073	0.0010	0.0067	0.0070	0.0060	0.0082	0.0064	0.0063	0.0061	0.0058	0.0056	0.0008	0	0.0038	0.0336	0	0.0402	0	0.0064	0.0053	0.0008	0.539	0.06824	T	0.929	0.02786	T	0.002	0.09854	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	-0.345	0.03330	N	-3.41	0.94306	D	-0.31	0.12099	N	0.027	0.00571	-0.5969	0.64943	T	0.401	0.75230	T	9	0.0030497313	0.00050	T	.	.	.	0.184	0.45763	.	.	0.42805410278	0.42423	0.05561331739455443	0.05502	0.00312709985745	0.00269	0.215447798371	0.01064	T	0.053429	0.29440	T	-0.456827	0.01028	T	-0.426087	0.30380	T	0.00159509457154765	0.00016	T	0.184382	0.01906	T	0.0832997	0.19229	0.07752548	0.17277	0.0832997	0.19229	0.07752548	0.17277	-0.701	0.00722	T	.	.	0.069	0.03093	B	.	.	-0.326677	0.02501	0.295	0.063746761523627196	0.00023	0.00019	0.00214	N	AEFI	.	.	.	.	.	.	.	.	.	3.12205640842283E-5	0.03775	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.23	-0.975	0.09764	-0.295000	0.08335	0.384000	0.17813	-0.106000	0.15538	0.000000	0.06391	0.002000	0.18203	0.639000	0.32395	0.1779:0.0:0.3545:0.4676	4.818	0.12742	15	0.98792	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0.004129	0.000000	0.007421	0.000000	0.000000	0.011765	0.000000	0.005263	0.1429	834.23	35	chrX	64268644	.	A	T	834.23	.	AC=2;AF=0.143;AN=14;DP=197;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=32.64;SOR=1.292	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,19:19:57:1|1:64268644_A_T:855,57,0:64268644	6	1	0	0
chrX	64268645	64268645	G	T	exonic	MTMR8	.	nonsynonymous SNV	MTMR8:NM_017677:exon14:c.C2007A:p.N669K	.	431	1075	10	6	0	22	0.0101289	.	.	.	3191609	MTMR8-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.024	.	0.0028	0.00317881	0.0073	0.0008	0.0016	0	0.0450	0.0082	0.0223	0.0007	0.0063971	989	154602	rs73227155	0.0066	0.0066	0.0067	0.0064	0.0092	0.0065	0.0064	0.0069	0.0061	0.0006	0.0022	0.0255	0	0.0416	0.0092	0.0054	0.0073	0.0010	0.0066	0.0070	0.0060	0.0082	0.0064	0.0063	0.0061	0.0058	0.0056	0.0007	0	0.0038	0.0335	0	0.0402	0	0.0064	0.0053	0.0008	0.011	0.55530	D	0.025	0.56192	D	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0	0.06538	N	-3.6	0.95009	D	-0.59	0.17624	N	0.017	0.00226	-0.4904	0.68994	T	0.439	0.77815	T	9	0.0031017065	0.00051	T	.	.	.	0.208	0.49714	0.347	0.34274	0.571172631058	0.56784	0.1427735271031723	0.14200	0.00286345005824	0.00246	0.254795908928	0.04290	T	0.054971	0.29876	T	-0.468898	0.00863	T	-0.443427	0.28424	T	0.0132812019967288	0.00238	T	0.335566	0.07155	T	0.14016235	0.32348	0.14091943	0.33575	0.14016235	0.32348	0.14091943	0.33574	-6.315	0.48840	T	.	.	0.126	0.26638	B	.	.	0.501650	0.08709	5.480	0.94663742180030275	0.25282	0.04650	0.10322	N	AEFI	.	.	.	.	.	.	.	.	.	3.37615442342576E-5	0.03775	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.23	-0.974	0.09767	0.154000	0.16160	0.343000	0.17400	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.573000	0.30723	0.3616:0.1786:0.2757:0.1841	0.470	0.00494	15	0.98792	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0.004129	0.000000	0.007421	0.000000	0.000000	0.011765	0.000000	0.005263	0.1429	834.23	35	chrX	64268645	.	G	T	834.23	.	AC=2;AF=0.143;AN=14;DP=197;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=31.05;SOR=1.292	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,19:19:57:1|1:64268644_A_T:855,57,0:64268644	6	1	0	0
chrX	67546495	67546497	GTG	-	exonic	AR	.	nonframeshift deletion	AR:NM_000044:exon1:c.1349_1351del:p.G473del,AR:NM_001348061:exon1:c.1349_1351del:p.G473del,AR:NM_001348063:exon1:c.1349_1351del:p.G473del,AR:NM_001348064:exon1:c.1349_1351del:p.G473del	Androgen insensitivity, X-linked recessive;Androgen insensitivity, partial, with or without breast cancer, X-linked recessive;Hypospadias 1, X-linked, X-linked recessive;Spinal and bulbar muscular atrophy of Kennedy, X-linked recessive	.	.	.	.	.	.	.	.	.	.	3211094	AR-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0035	.	9.791e-05	0	0	0	0	0.0003	0	0	3.84e-05	1	26028	rs752570661	7.257e-06	0.0003	1.02e-05	0	4.884e-05	2.61e-06	1.71e-06	5.3e-07	2e-07	4.884e-05	0	6.268e-05	0	3.114e-05	0	3.158e-06	0	2.717e-05	0	9.776e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	43.45	38	chrX	67546494	.	TGTG	T	43.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.384;DP=165;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=3.62;ReadPosRankSum=0.975;SOR=0.223	GT:AD:DP:GQ:PL	0/1:10,2:12:54:54,0,414	6	0	1	0
chrX	130037469	130037469	G	C	exonic	BCORL1	.	nonsynonymous SNV	BCORL1:NM_021946:exon9:c.G4408C:p.D1470H,BCORL1:NM_001379450:exon10:c.G4630C:p.D1544H,BCORL1:NM_001379451:exon10:c.G4630C:p.D1544H,BCORL1:NM_001184772:exon11:c.G4630C:p.D1544H	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.473	0.811831089979	.	.	1.143e-05	0	0.0001	0	0	0	0	0	6.5e-06	1	154602	rs200861335	2.732e-06	2.732e-06	0	8.253e-06	5.682e-05	7.3e-07	2e-07	9.41e-06	3.52e-06	0	5.682e-05	0	0	0	0	1.188e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.39097	T	0.008	0.67890	D	.	.	.	.	.	.	0.064969	0.21914	N	0.232716	0.990929	0.47592	D	.	.	.	-0.71	0.72889	T	-2.2	0.52128	N	0.543	0.57006	0.113	0.84418	D	0.568	0.84354	D	10	0.61804783	0.67819	D	0.811831	0.98533	D	0.473	0.76619	0.504	0.59770	0.961402668993	0.96098	0.7922897795816486	0.79180	1.21637778066	0.80984	0.603613257408	0.53414	T	0.039065	0.25061	T	0.247767	0.78393	D	0.230614	0.84700	D	0.71886321966779	0.41642	D	0.443756	0.12347	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.620	0.69698	P	.;.;.	.;.;.	4.238093	0.64232	24.7	0.99046394905376423	0.51140	0.95717	0.65855	D	AEFI	.	.	.	.	.	.	.	.	.	0.998846081317334	0.37800	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.69	5.69	0.88346	4.926000	0.63134	7.578000	0.60885	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.920000	0.45560	0.0:0.0:1.0:0.0	18.829	0.92098	428	0.80967	.;.;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	1255.24	39	chrX	130037469	.	G	C	1255.24	.	AC=2;AF=0.143;AN=14;DP=233;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=32.19;SOR=1.236	GT:AD:DP:GQ:PL	1/1:0,39:39:99:1276,117,0	6	1	0	0
chrX	135580144	135580144	G	C	exonic	INTS6L	.	nonsynonymous SNV	INTS6L:NM_001351603:exon15:c.G2365C:p.V789L,INTS6L:NM_001351604:exon15:c.G2233C:p.V745L,INTS6L:NM_001351605:exon15:c.G2233C:p.V745L,INTS6L:NM_001351606:exon15:c.G1639C:p.V547L,INTS6L:NM_182540:exon15:c.G2365C:p.V789L,INTS6L:NM_001351601:exon16:c.G2476C:p.V826L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.320721839563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	9.106e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.33254	T	0.144	0.33109	T	0.054	0.22658	B	0.016	0.17743	B	0.000000	0.84330	D	0.000000	0.998439	0.44913	D	.	.	.	1.12	0.38718	T	-1.47	0.35991	N	0.585	0.60579	-0.8446	0.52338	T	0.185	0.53376	T	10	0.3336386	0.50551	T	0.320722	0.91466	D	0.116	0.32463	0.358	0.36060	0.707954595072	0.70541	0.7275652152813423	0.72700	1.18866698664	0.80215	0.648726463318	0.59806	T	0.054	0.29627	T	0.00945918	0.52950	T	-0.224189	0.52332	T	0.882806301116943	0.53294	D	0.539346	0.18229	T	0.6511502	0.75426	0.50532985	0.71408	0.6511502	0.75427	0.50532985	0.71409	-8.677	0.65596	D	.	.	0.978	0.90664	P	.;.	.;.	3.376911	0.46690	22.3	0.98498159316290479	0.42180	0.97707	0.76556	D	AEFGBI	.	.	.	.	.	.	.	.	.	0.999999042486774	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.88	4.88	0.63131	4.677000	0.61324	5.234000	0.48040	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	16.741	0.85319	91	0.96221	INTS6/SAGE1/DDX26B/CT45, C-terminal;INTS6/SAGE1/DDX26B/CT45, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	221.61	46	chrX	135580144	.	G	C	221.61	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-1.167;DP=355;ExcessHet=3.1439;FS=347.102;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=0.93;ReadPosRankSum=0.164;SOR=9.383	GT:AD:DP:GQ:PL	0/1:11,11:22:48:48,0,78	2	0	4	1
chrX	153910330	153910330	G	A	exonic	ARHGAP4	.	nonsynonymous SNV	ARHGAP4:NM_001666:exon17:c.C1997T:p.P666L,ARHGAP4:NM_001164741:exon18:c.C2117T:p.P706L	.	430	1091	0	1	0	2	0.000915751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	0.384608861847	0.0027	0.0010596	0.0018	0.0003	0.0015	0	0.0008	0.0027	0	0.0004	0.0016365	253	154602	rs142533512	0.0024	0.0024	0.0024	0.0025	0.0028	0.0023	0.0023	0.0027	0.0027	0.0005	0.0022	0.0014	3.317e-05	0.0009	0.0007	0.0028	0.0020	0.0002	0.0022	0.0023	0.0023	0.0020	0.0036	0.0020	0.0019	0.0031	0.0030	0.0003	0	0.0033	0.0026	0.0003	0.0010	0	0.0036	0.0020	0	0.006	0.61437	D	0.031	0.56640	D	0.496	0.37079	P	0.129	0.32841	B	0.102423	0.19794	N	0.370648	0.999994	0.18198	N	2.475	0.71894	M	2.16	0.19166	T	-4.68	0.79659	D	0.301	0.45426	-0.8996	0.48034	T	0.195	0.54942	T	10	0.013324112	0.00283	T	0.384609	0.93050	D	0.136	0.36778	.	.	0.357212565759	0.35331	0.6269777925268617	0.62630	0.0758446681367	0.08513	0.626922905445	0.56708	T	0.199623	0.55696	T	-0.534002	0.00364	T	-0.543198	0.17983	T	0.04067512130172	0.03812	T	0.975469	0.91883	D	0.2244044	0.45081	0.24149224	0.49548	0.2244044	0.45081	0.24149224	0.49547	-9.689	0.72029	D	.	.	0.196	0.41798	B	.;.;.;.	.;.;.;.	3.211754	0.43726	21.8	0.97866191383501755	0.36499	0.40065	0.26353	N	AEFBHCI	.	.	.	.	.	.	.	.	.	0.992297926035714	0.32788	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.68	3.66	0.41111	0.897000	0.28022	.	.	0.658000	0.54486	0.906000	0.31575	1.000000	0.68203	0.736000	0.35301	0.1709:0.0:0.8291:0.0	9.017	0.35337	180	0.92993	Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein domain;.;Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein domain;Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	1030.23	36	chrX	153910330	.	G	A	1030.23	.	AC=2;AF=0.143;AN=14;DP=229;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=28.62;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,36:36:99:1051,108,0	6	1	0	0
chrX	155077215	155077215	C	T	exonic	BRCC3	.	stopgain	BRCC3:NM_001018055:exon4:c.C241T:p.R81X,BRCC3:NM_001242640:exon4:c.C244T:p.R82X,BRCC3:NM_024332:exon4:c.C241T:p.R81X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.299e-05	0	0	0	0.0002	2.086e-05	0	0	1.94e-05	3	154602	rs782376891	1.856e-06	7.285e-06	2.74e-06	0	2.413e-06	3.1e-07	1.2e-07	4e-07	1.5e-07	0	0	0	0	0	0	2.413e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.786	0.91852	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.58478	0.97200	D	0.60222	0.97155	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.;Dominant;.;.;.	.;.;.;.;.;High;.;.;.	7.567281	0.96647	36	0.99760285010060668	0.85011	0.94695	0.62013	D	AEFBI	.	.	.	.	.	.	.	.	.	0.999992446882869	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.15	3.27	0.36580	4.537000	0.60354	1.715000	0.28221	-0.184000	0.09925	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.3103:0.6897:0.0:0.0	11.833	0.51579	446	0.79659	.;.;.;JAB1/MPN/MOV34 metalloenzyme domain|MPN domain|JAB1/MPN/MOV34 metalloenzyme domain;JAB1/MPN/MOV34 metalloenzyme domain|MPN domain|JAB1/MPN/MOV34 metalloenzyme domain;JAB1/MPN/MOV34 metalloenzyme domain|MPN domain|JAB1/MPN/MOV34 metalloenzyme domain;JAB1/MPN/MOV34 metalloenzyme domain|MPN domain|JAB1/MPN/MOV34 metalloenzyme domain;JAB1/MPN/MOV34 metalloenzyme domain|MPN domain|JAB1/MPN/MOV34 metalloenzyme domain;JAB1/MPN/MOV34 metalloenzyme domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	77.49	35	chrX	155077215	.	C	T	77.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.317;DP=199;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=4.56;ReadPosRankSum=1.85;SOR=0.693	GT:AD:DP:GQ:PL	0/1:12,5:17:88:88,0,275	6	0	1	0
chrY	9340076	9340076	C	T	exonic	TSPY1;TSPY10;TSPY3;TSPY4;TSPY8	.	stopgain	TSPY4:NM_001164471:exon6:c.C931T:p.Q311X,TSPY3:NM_001077697:exon7:c.C913T:p.Q305X,TSPY8:NM_001243721:exon7:c.C913T:p.Q305X,TSPY10:NM_001282469:exon7:c.C913T:p.Q305X,TSPY1:NM_001320964:exon7:c.C652T:p.Q218X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0004	.	0.0002	0.0023	0.0002	0.0001	0.0018	0.0016	0	0	0	0	0	0	0	0	0.0023	0	0.0006	.	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.02	0.00308	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.276756	0.81037	D	0.159764	0.80792	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	4.006042	0.59058	24.1	0.83028600620527626	0.14503	0.02000	0.06028	N	AEF	.	.	.	.	.	.	.	.	.	0.643805545670661	0.22079	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.658000	0.24662	.	.	0.147000	0.17684	0.989000	0.36753	0.000000	0.08366	0.005000	0.06747	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	40.7	.	chrY	9340076	.	C	T	40.7	.	AC=2;AF=0.5;AN=4;DP=5;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.5;MQ=20;QD=20.35;SOR=2.303	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	1	1	0	5
chrY	9467014	9467014	G	A	exonic	TSPY1	.	nonsynonymous SNV	TSPY1:NM_001197242:exon1:c.G14A:p.G5D,TSPY1:NM_001320964:exon1:c.G14A:p.G5D,TSPY1:NM_003308:exon1:c.G14A:p.G5D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.910826697063	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.985	0.61118	D	0.336	0.44119	B	.	.	.	.	.	.	.	1.245	0.31408	L	1.02	0.40749	T	-1.54	0.37375	N	0.059	0.03069	.	.	.	.	.	.	.	0.19815892	0.35775	T	0.910827	0.99335	D	.	.	.	.	0.104622674875	0.10061	0.09278249617791824	0.09210	.	.	.	.	.	0.018577	0.14954	T	-0.332223	0.05945	T	-0.714992	0.05041	T	.	.	.	0.438556	0.12074	T	0.32452494	0.55018	0.29407626	0.55437	0.32452494	0.55018	0.29407626	0.55436	-4.596	0.32121	T	.	.	0.089	0.15966	B	.;.	.;.	1.039675	0.14203	10.78	0.96303815831251716	0.29357	0.01257	0.04415	N	AEF	.	.	.	.	.	.	.	.	.	1.19561883460848E-6	0.01202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.094000	0.11060	.	.	0.217000	0.18040	0.001000	0.13787	0.000000	0.08366	0.004000	0.06068	.	.	.	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	59.78	.	chrY	9467014	.	G	A	59.78	.	AC=1;AF=0.167;AN=6;BaseQRankSum=-0.473;DP=38;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.333;MQ=28.46;MQRankSum=1.09;QD=5.43;ReadPosRankSum=-0.357;SOR=0.495	GT:AD:DP:GQ:PL	0/1:7,4:11:66:66,0,156	2	0	1	4