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	NSWES984	WT	HH	HZ	NC
chr1	1179704	1179704	G	A	exonic	TTLL10	.	nonsynonymous SNV	TTLL10:NM_001130045:exon5:c.G166A:p.G56S,TTLL10:NM_001371649:exon5:c.G166A:p.G56S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.00397820462067	0.0011	0.000199681	0.0002	0.0016	0	0	0	0	0	0.0001	3.88e-05	6	154602	rs369896253	7.581e-05	7.32e-05	9.597e-05	5.509e-05	0.0026	6.392e-05	5.958e-05	0.0021	0.0020	0.0026	2.803e-05	0	0	0	0	1.02e-05	0.0001	7.574e-05	0.0004	0.0004	0.0003	0.0005	0.0015	0.0003	0.0003	0.0012	0.0011	0.0015	0	0	0.0009	0	0	0	0	0.0005	0	0.538	0.06847	T	0.583	0.08419	T	0.0	0.02946	B	0.0	0.01387	B	0.000055	0.00387	N	12.716500	1	0.08975	N	-0.895	0.01383	N	3.36	0.05918	T	0.15	0.05310	N	0.101	0.08366	-0.9638	0.38448	T	0.007	0.02360	T	10	0.0051733553	0.00112	T	0.003978	0.09431	T	0.010	0.01040	.	.	0.0297737177859	0.01360	0.130174628009243	0.12942	0.0271233603935	0.02770	0.36552080512	0.20187	T	0.002424	0.01816	T	-0.737891	0.00021	T	-0.839182	0.01111	T	0.00753282480113474	0.00087	T	0.321768	0.06536	T	0.031469267	0.02992	0.039788425	0.04154	0.031469267	0.02992	0.039788425	0.04154	-3.548	0.17110	T	.	.	0.082	0.10111	B	.;.	.;.	0.364494	0.07370	3.992	0.47886091647084794	0.03951	0.00253	0.01392	N	AEFDBCI	0.017451	0.00458	N	-1.97271994884126	0.00242	0.0103694	-2.00130673950801	0.00304	0.01343975	0.999933654158922	0.46732	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	2.37	-3.77	0.04062	-1.459000	0.02476	-1.383000	0.05568	-1.505000	0.01024	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5477:0.1835:0.2688:0.0	4.040	0.09228	789	0.46346	.;.	.	.	.	.	.	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	551.63	33	chr1	1179704	.	G	A	551.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.45;DP=232;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.49;ReadPosRankSum=0.453;SOR=0.575	GT:AD:DP:GQ:PL	0/1:42,23:65:99:562,0,969	6	0	1	0
chr1	2800593	2800593	C	A	exonic	TTC34	.	nonsynonymous SNV	TTC34:NM_001242672:exon1:c.G235T:p.G79C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	7.952e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.30820864	0.48318	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.525947	0.17303	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.473	0.63348	A	.	.	4.640932	0.73888	26.1	0.75360822946684525	0.11045	0.90541	0.51802	D	AEFDBI	.	.	.	.	.	.	.	.	.	0.0116002463434557	0.12208	0.056701	0.00814	0	0.063388	0.01293	0	0.074216	0.02223	0	0.062806	0.01542	0	0.900214	0.56720	4.6	4.6	0.56512	2.008000	0.40513	3.814000	0.39922	0.597000	0.34315	0.958000	0.33488	0.999000	0.35428	0.967000	0.53440	0.0:0.8964:0.0:0.1036	10.000	0.41094	957	0.09725	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1	30.01	1	chr1	2800593	.	C	A	30.01	.	AC=1;AF=0.1;AN=10;BaseQRankSum=0;DP=10;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=7.5;ReadPosRankSum=-0.431;SOR=0.693	GT:AD:DP:GQ:PL	0/1:2,2:4:37:37,0,37	4	0	1	2
chr1	5874879	5874879	C	G	exonic	NPHP4	.	nonsynonymous SNV	NPHP4:NM_001291594:exon17:c.G1503C:p.E501D,NPHP4:NM_001291593:exon18:c.G1500C:p.E500D,NPHP4:NM_015102:exon21:c.G3039C:p.E1013D	Nephronophthisis 4, Autosomal recessive;Senior-Loken syndrome 4, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	.	824267	Nephronophthisis_4|Senior-Loken_syndrome_4|Nephronophthisis	MONDO:MONDO:0011752,MedGen:C1847013,OMIM:606966,Orphanet:655|MONDO:MONDO:0011756,MedGen:C1846979,OMIM:606996,Orphanet:3156|Human_Phenotype_Ontology:HP:0000090,Human_Phenotype_Ontology:HP:0004748,MONDO:MONDO:0019005,MedGen:C0687120,OMIM:PS256100,Orphanet:655	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.308	0.059211062367	.	.	4.172e-05	0	0	0	0	1.511e-05	0.0011	0.0002	3.23e-05	5	154602	rs747091960	4.653e-05	4.652e-05	1.906e-05	7.428e-05	0.0009	3.729e-05	3.413e-05	0.0004	0.0004	0	2.236e-05	0	0	0	0.0009	1.799e-06	0.0002	0.0005	3.287e-05	3.284e-05	0	6.729e-05	0.0008	1.261e-05	7.98e-06	0.0003	0.0002	0	0	6.544e-05	0	0	0	0	0	0	0.0008	0.1	0.30515	T	0.291	0.20944	T	0.999	0.77913	D	0.957	0.69900	D	0.000002	0.62929	D	0.000000	0.986612	0.40459	D	2.26	0.64354	M	-0.9	0.74896	T	-1.6	0.38540	N	0.327	0.36779	-0.2887	0.75301	T	0.425	0.76863	T	10	0.22529969	0.39355	T	0.059211	0.67586	D	0.308	0.62947	0.345	0.33950	0.805776217543	0.80396	0.7124220349441102	0.71184	0.288680927645	0.31276	0.518929004669	0.41476	T	0.220112	0.58331	T	-0.286859	0.09953	T	-0.321869	0.42369	T	0.225108474493027	0.21716	T	0.766023	0.39401	T	0.22301376	0.44913	0.11327788	0.27337	0.22301376	0.44913	0.11327788	0.27336	-8.64	0.65352	D	0.6204327482001281	0.68876	0.243	0.47708	B	.	.	2.644294	0.34418	19.62	0.99663434606880952	0.78074	0.93257	0.57736	D	AEFDBI	0.496326	0.53132	N	0.282345499253141	0.55252	3.68952	0.222826941195298	0.51117	3.297005	0.996837048628025	0.35047	0.695654	0.57023	0	0.546412	0.12157	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.95	4.04	0.46262	1.546000	0.35787	1.654000	0.27862	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.857000	0.40602	0.1641:0.7517:0.0:0.0843	7.495	0.26654	952	0.10565	.	.	.	.	.	.	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	0.003049	0.000000	0.07143	849.53	34	chr1	5874879	.	C	G	849.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.262;DP=268;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.88;ReadPosRankSum=1.65;SOR=0.756	GT:AD:DP:GQ:PL	0/1:49,37:86:99:860,0,1205	6	0	1	0
chr1	7933282	7933282	T	C	exonic	TNFRSF9	.	nonsynonymous SNV	TNFRSF9:NM_001561:exon7:c.A559G:p.I187V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.00270495129526	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.06147	T	0.002	0.09854	B	0.001	0.04355	B	0.030551	0.01722	N	2.226600	1	0.08975	N	0.22	0.09567	N	3.34	0.38883	T	-0.08	0.08187	N	0.064	0.03613	-0.9649	0.38230	T	0.008	0.02926	T	10	0.039113462	0.02377	T	0.002705	0.05550	T	0.009	0.00846	0.276	0.22845	0.0954503805726	0.09146	0.14244755294639133	0.14167	0.0755766024316	0.08479	0.303215026855	0.10881	T	0.091535	0.38816	T	-0.396887	0.02426	T	-0.807877	0.01713	T	0.0528059709509316	0.05985	T	0.343166	0.08297	T	0.014398486	0.00092	0.024658427	0.00489	0.014398486	0.00092	0.024658427	0.00489	-3.107	0.11376	T	.	.	0.082	0.20117	B	.;.;.	.;.;.	-2.656894	0.00022	0.001	0.31864493878579497	0.01817	0.00640	0.02800	N	AEFBI	0.053752	0.09712	N	-1.55403076293908	0.01511	0.06599016	-1.62642963533454	0.01502	0.06801238	0.1723792661722	0.17755	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.43	-6.6	0.01657	-4.246000	0.00304	-7.248000	0.01198	-0.123000	0.13640	0.000000	0.06391	0.000000	0.08366	0.131000	0.19607	0.269:0.3775:0.1367:0.2167	1.562	0.02441	804	0.43891	.;.;.	.	.	.	.	.	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	78.9	22	chr1	7933282	.	T	C	78.9	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.728;DP=153;ExcessHet=0.3476;FS=37.363;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=1.46;ReadPosRankSum=1.9;SOR=5.281	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:25,10:35:19:.:.:19,0,395:.	4	0	2	1
chr1	7938763	7938763	C	T	exonic	TNFRSF9	.	nonsynonymous SNV	TNFRSF9:NM_001561:exon3:c.G166A:p.A56T	.	431	1047	43	1	0	45	0.0210379	.	.	YES	246892	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.070	0.00393022335699	0.0030	0.00159744	0.0036	0.0005	0.0032	0	0.0008	0.0048	0.0044	0.0039	0.0035316	546	154602	rs9657963	0.0037	0.0038	0.0036	0.0039	0.0248	0.0036	0.0036	0.0215	0.0203	0.0007	0.0043	0.0115	2.519e-05	0.0011	0.0248	0.0037	0.0049	0.0042	0.0033	0.0033	0.0033	0.0033	0.0074	0.0031	0.0030	0.0063	0.0059	0.0006	0	0.0074	0.0130	0.0002	0.0005	0.0204	0.0040	0.0071	0.0035	1.0	0.00964	T	0.941	0.02685	T	0.001	0.07471	B	0.001	0.04355	B	0.320357	0.04070	N	1.492440	1	0.08975	N	-1.08	0.01032	N	3.34	0.06063	T	1.3	0.00948	N	0.032	0.00825	-0.9451	0.41797	T	0.009	0.03096	T	10	0.0033856928	0.00059	T	0.00393	0.09274	T	0.070	0.20419	.	.	0.12205267543	0.11705	0.49123176202066027	0.49044	0.0877038788788	0.09897	0.234466671944	0.02315	T	0.238459	0.60636	T	-0.763029	0.00014	T	-0.866481	0.00776	T	0.00133808490448402	0.00013	T	0.410359	0.10588	T	0.084032446	0.19431	0.08841771	0.20615	0.084032446	0.19431	0.08841771	0.20615	-2.519	0.05912	T	.	.	0.058	0.00705	B	.;.	.;.	0.541472	0.09098	5.884	0.1384294636572114	0.00286	0.00405	0.02019	N	AEFBI	0.033166	0.03882	N	-1.18175397809927	0.05276	0.2401307	-1.07042647388821	0.08287	0.4067902	0.631043940166331	0.21968	0.549168	0.22868	0	0.588066	0.40923	0	0.59043	0.30614	0	0.616125	0.45549	0	.	.	5.39	3.06	0.34374	1.348000	0.33592	-0.949000	0.06820	-0.835000	0.02838	0.445000	0.26527	0.000000	0.08366	0.005000	0.06747	0.0:0.2271:0.0:0.7729	6.163	0.19590	809	0.43032	TNFR/NGFR cysteine-rich region|TNFR/NGFR cysteine-rich region|TNFR/NGFR cysteine-rich region|Tumour necrosis factor receptor 9, N-terminal;TNFR/NGFR cysteine-rich region|TNFR/NGFR cysteine-rich region|TNFR/NGFR cysteine-rich region|Tumour necrosis factor receptor 9, 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	0	0	1	0	0.016113	0.005051	0.019022	0.032164	0.000000	0.017241	0.021341	0.003788	0.08333	709.27	26	chr1	7938763	.	C	T	709.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.189;DP=235;ExcessHet=0;FS=2.045;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.59;ReadPosRankSum=0.954;SOR=1.041	GT:AD:DP:GQ:PL	0/1:35,32:67:99:719,0,768	5	0	1	1
chr1	10326244	10326244	G	C	exonic	KIF1B	.	nonsynonymous SNV	KIF1B:NM_015074:exon25:c.G2671C:p.E891Q,KIF1B:NM_001365951:exon27:c.G2809C:p.E937Q,KIF1B:NM_001365952:exon27:c.G2809C:p.E937Q	Pheochromocytoma, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.290	0.0482880192528	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.841e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.37326	T	0.212	0.26549	T	0.989	0.62824	D	0.969	0.72001	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.765	0.45800	L	-0.82	0.75001	T	-1.39	0.36787	N	0.734	0.75009	-0.1696	0.78438	T	0.498	0.81014	T	10	0.6018709	0.66958	D	0.048288	0.63305	D	0.290	0.60924	0.219	0.14078	0.749556767029	0.74729	0.6982153262634863	0.69762	1.23630627734	0.81476	0.814065039158	0.84115	D	0.345935	0.71426	T	0.119299	0.66301	D	-0.0664114	0.65882	T	0.84802782535553	0.49996	D	0.984102	0.94582	D	0.2858203	0.51601	0.27822828	0.53781	0.2858203	0.51601	0.27822828	0.53780	-10.724	0.78968	D	.	.	0.374	0.62311	A	.;.;.;.;.	.;.;.;.;.	5.279577	0.88650	29.7	0.99699751426161221	0.80522	0.99370	0.95141	D	AEFGBI	0.891753	0.82802	D	0.588017507858634	0.72425	5.803883	0.669916851634812	0.80102	7.224664	0.999999999999494	0.74766	0.562547	0.31514	0	0.546412	0.12157	0	0.608884	0.39905	0	0.491896	0.07777	0	.	.	5.6	5.6	0.84997	9.602000	0.97623	11.794000	0.96459	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.620	0.95646	229	0.91079	.;.;.;.;.	.	.	.	.	.	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	4345.04	146	chr1	10326244	.	G	C	4345.04	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-6.673;DP=888;ExcessHet=2.5225;FS=260.179;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=6.37;ReadPosRankSum=1.09;SOR=10.607	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:145,49:212:99:.:.:1809,0,5088:.	3	0	4	0
chr1	11922898	11922898	G	A	exonic	KIAA2013	.	nonsynonymous SNV	KIAA2013:NM_138346:exon2:c.C1625T:p.T542I	.	426	1088	8	0	0	8	0.003663	.	.	.	2805719	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.070	0.00285916216767	0.0042	0.00179712	0.0041	0.0019	0.0035	0	0.0005	0.0055	0.0014	0.0033	0.0006274	97	154602	rs35073764	0.0062	0.0062	0.0063	0.0061	0.0073	0.0061	0.0060	0.0072	0.0071	0.0010	0.0024	0.0032	2.522e-05	0.0014	0.0016	0.0073	0.0052	0.0033	0.0041	0.0041	0.0042	0.0039	0.0068	0.0038	0.0037	0.0063	0.0061	0.0017	0	0.0033	0.0020	0	0.0008	0	0.0068	0.0038	0.0027	0.348	0.13971	T	0.121	0.36901	T	0.195	0.29512	B	0.065	0.27321	B	0.001268	0.39594	N	0.249272	0.992258	0.41596	D	1.67	0.42885	L	.	.	.	-2.32	0.51478	N	0.182	0.19728	-1.0817	0.07022	T	0.066	0.27364	T	9	0.010512382	0.00233	T	0.002859	0.06015	T	0.070	0.20419	.	.	0.110078149338	0.10416	0.7210633728408705	0.72049	.	.	0.547558784485	0.45513	T	0.010214	0.09245	T	-0.500474	0.00568	T	-0.479996	0.24445	T	0.00781692220711704	0.00092	T	0.863014	0.55864	D	0.04122817	0.06034	0.07634458	0.16900	0.04122817	0.06033	0.07634458	0.16900	-5.409	0.41006	T	.	.	0.075	0.07793	B	.;.;.	.;.;.	2.009693	0.25536	16.80	0.98284403757157512	0.39889	0.94406	0.61064	D	AEFDGBI	0.308772	0.41526	N	-0.245005774461428	0.31302	1.753889	-0.0923052406574394	0.35707	2.069022	0.999998753566587	0.74766	0.706548	0.73137	0	0.685571	0.66316	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.79	2.94	0.33188	2.892000	0.48323	2.544000	0.33230	0.676000	0.76740	0.999000	0.42656	0.999000	0.35428	0.974000	0.55675	0.2907:0.0:0.7093:0.0	8.609	0.32955	764	0.49969	.;.;.	.	.	.	.	.	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	0.001656	0.000000	0.001366	0.000000	0.000000	0.000000	0.003268	0.003968	0.07143	908.63	23	chr1	11922898	.	G	A	908.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.225;DP=235;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=38.86;MQRankSum=-1.887;QD=11.65;ReadPosRankSum=-0.315;SOR=0.61	GT:AD:DP:GQ:PL	0/1:40,38:78:99:919,0,1118	6	0	1	0
chr1	12277610	12277610	C	T	exonic	VPS13D	.	nonsynonymous SNV	VPS13D:NM_015378:exon19:c.C4022T:p.S1341L,VPS13D:NM_018156:exon19:c.C4022T:p.S1341L	.	436	1073	13	0	0	13	0.00602131	.	.	.	984048	VPS13D-related_disorder|not_provided|Autosomal_recessive_cerebellar_ataxia-saccadic_intrusion_syndrome	.|MedGen:C3661900|MONDO:MONDO:0011811,MedGen:C1846492,OMIM:607317,Orphanet:95434	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.169	0.00288129989674	0.0039	0.00119808	0.0027	0.0008	0.0006	0	0	0.0043	0.0033	0.0014	0.0027361	423	154602	rs12407578	0.0040	0.0040	0.0039	0.0041	0.0055	0.0039	0.0039	0.0047	0.0046	0.0006	0.0016	0.0009	0	9.403e-05	0.0055	0.0048	0.0037	0.0017	0.0027	0.0027	0.0031	0.0023	0.0048	0.0025	0.0024	0.0043	0.0042	0.0010	0	0.0021	0.0009	0	0.0002	0.0034	0.0048	0.0028	0.0015	.	.	.	0.014	0.62352	D	0.964	0.90584	D	0.306	0.84481	B	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	1.79	0.46772	L	.	.	.	.	.	.	0.827	0.82257	-0.7437	0.58262	T	0.207	0.56567	T	10	0.011992276	0.00260	T	0.002881	0.06074	T	.	.	.	.	0.117191471859	0.11215	0.6071695365548392	0.60648	.	.	0.706907629967	0.68145	T	0.584668	0.86453	D	-0.0181384	0.49119	T	0.20226	0.83253	D	0.0223151866866301	0.00944	T	0.944006	0.80662	D	0.43740696	0.63234	0.34600848	0.60275	0.475272	0.65613	0.49095947	0.70552	-6.199	0.47915	T	0.2813359230021587	0.37670	0.183	0.39731	B	.;.	.;.	4.567031	0.72027	25.8	0.99906592428517771	0.97726	0.98747	0.86334	D	AEFBI	0.623041	0.60713	D	0.534153202795129	0.69124	5.312616	0.59383377871949	0.74495	6.147002	0.999999999989951	0.74766	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.91	5.91	0.95240	5.787000	0.68662	6.020000	0.52779	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.846000	0.39970	0.0:1.0:0.0:0.0	20.299	0.98594	697	0.58201	.;.	.	.	.	.	.	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	0.005539	0.000000	0.002717	0.014620	0.000000	0.000000	0.012195	0.000000	0.07143	1709.44	39	chr1	12277610	.	C	T	1709.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.75;DP=327;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.04;ReadPosRankSum=-1.243;SOR=0.665	GT:AD:DP:GQ:PL	0/1:77,65:142:99:1720,0,1838	6	0	1	0
chr1	12794855	12794855	C	T	exonic	PRAMEF1	.	nonsynonymous SNV	PRAMEF1:NM_001294139:exon1:c.C17T:p.A6V	.	583	936	3	0	0	3	0.0016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.000192598857912	.	.	0.0008	0	0	0	0	0.0009	0	0.0027	0.0009989	26	26028	rs200225858	0.0004	0.0012	0.0004	0.0005	0.0032	0.0004	0.0004	0.0025	0.0022	7.644e-05	0.0008	0.0001	0.0032	0.0005	0.0020	0.0003	0.0007	0.0010	0.0004	0.0007	0.0004	0.0004	0.0015	0.0003	0.0003	0.0007	0.0005	0.0001	0	0.0007	0	0.0006	0.0004	0.0069	0.0004	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	99.53	27	chr1	12794855	.	C	T	99.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.11;DP=211;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=42.06;MQRankSum=-0.926;QD=2.76;ReadPosRankSum=0.234;SOR=0.833	GT:AD:DP:GQ:PL	0/1:30,6:36:99:110,0,842	6	0	1	0
chr1	12795956	12795956	C	G	exonic	PRAMEF1	.	stopgain	PRAMEF1:NM_001294139:exon2:c.C650G:p.S217X,PRAMEF1:NM_023013:exon4:c.C1385G:p.S462X	.	498	1004	20	0	0	20	0.00986193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0741	0.1441	0.0446	0.0608	0.0460	0.0744	0.0531	0.0748	0.0596887	9228	154602	rs146835774	9.623e-06	0.0009	1.094e-05	8.291e-06	0.0001	5.58e-06	4.37e-06	4.132e-05	2.406e-05	0.0001	0	3.866e-05	5.083e-05	0	0	2.704e-06	0	4.68e-05	2.678e-05	0.0006	3.924e-05	1.371e-05	9.956e-05	8.26e-06	5.22e-06	3.32e-05	1.962e-05	9.956e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.00162	N	24.303600	0.999992	0.18878	N	.	.	.	.	.	.	.	.	.	0.041	0.01421	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.210551	0.74881	D	0.0646661	0.74555	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant	High	5.501798	0.91592	32	0.73367442354752288	0.10302	0.00217	0.01229	N	AEFBI	0.023606	0.01340	N	-0.126384344249431	0.36245	2.092528	-0.597625226207845	0.19555	1.049693	8.12789459538178E-6	0.01202	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.682	-0.482	0.11476	-0.019000	0.12487	-3.480000	0.02754	-1.024000	0.01719	0.077000	0.22263	0.000000	0.08366	0.000000	0.00833	.	.	.	888	0.27761	.	.	.	.	.	.	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	0.134703	0.180000	0.168033	0.118644	0.125000	0.129310	0.087413	0.088000	0.07143	30.44	44	chr1	12795956	.	C	G	30.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.745;DP=340;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=42.1;MQRankSum=-4.023;QD=0.35;ReadPosRankSum=-2.035;SOR=0.676	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:79,8:87:41:0|1:12795956_C_G:41,0,3180:12795956	6	0	1	0
chr1	12894881	12894881	G	T	exonic	PRAMEF10	.	nonsynonymous SNV	PRAMEF10:NM_001039361:exon3:c.C571A:p.P191T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.000967886536308	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.854e-07	4.144e-06	1.793e-06	0	2.634e-05	0	0	.	.	0	0	0	2.634e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.009	0.66756	D	0.878	0.48285	P	0.546	0.49068	P	0.564230	0.11305	N	0.794271	1	0.08975	N	2.03	0.55503	M	5.54	0.00885	T	-4.46	0.77798	D	0.204	0.22614	-0.9189	0.45702	T	0.005	0.01761	T	10	0.18503779	0.33907	T	9.68E-4	0.01003	T	0.031	0.07369	0.503	0.59615	0.043077524339	0.03247	0.17729716622682443	0.17648	.	.	0.630800366402	0.57258	T	0.107474	0.41971	T	-0.239668	0.15392	T	-0.582043	0.14363	T	0.775861978530884	0.44795	D	.	.	.	0.027398432	0.01926	0.03103668	0.01638	0.027398432	0.01925	0.03103668	0.01638	-4.606	0.32247	T	.	.	0.147	0.32469	B	.	.	1.074782	0.14573	11.14	0.92999796800243373	0.22589	0.00777	0.03195	N	AEFI	0.020692	0.00842	N	-0.832687795582111	0.12480	0.6085982	-1.06909324971105	0.08314	0.4082409	1.0969610631889E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.07	0.122	0.14005	-0.179000	0.09761	-20.000000	0.00162	0.322000	0.19397	0.000000	0.06391	0.000000	0.08366	0.035000	0.13729	0.357:0.0:0.643:0.0	4.422	0.10912	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	634.53	37	chr1	12894881	.	G	T	634.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-5.482;DP=203;ExcessHet=0;FS=3.074;MLEAC=1;MLEAF=0.071;MQ=29.46;MQRankSum=-0.835;QD=13.79;ReadPosRankSum=-0.949;SOR=0.124	GT:AD:DP:GQ:PL	0/1:21,25:46:99:645,0,551	6	0	1	0
chr1	13178969	13178969	A	T	exonic	PRAMEF27;PRAMEF9	.	nonsynonymous SNV	PRAMEF9:NM_001010890:exon3:c.A1274T:p.D425V,PRAMEF27:NM_001300891:exon4:c.A1274T:p.D425V	.	477	1037	8	0	0	8	0.00384246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs192695001	0.0019	0.0021	0.0021	0.0018	0.0024	0.0019	0.0019	0.0023	0.0023	0.0004	0.0009	4.014e-05	0	9.763e-05	0.0016	0.0024	0.0021	0.0003	0.0013	0.0013	0.0015	0.0010	0.0024	0.0011	0.0011	0.0021	0.0020	0.0004	0	0.0007	0.0003	0	0.0001	0.0038	0.0024	0	0	.	.	.	0.519	0.10501	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.148	0.15046	.	.	.	.	.	.	.	0.048883855	0.04401	T	.	.	.	.	.	.	.	.	.	0.2976366178196139	0.29676	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.163	0.35951	B	.	.	-0.399091	0.02216	0.223	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.954000	0.03983	-20.000000	0.00162	-0.497000	0.05030	0.000000	0.06391	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	.	.	.	.	.	.	.	.	0.08333	2300.27	40	chr1	13178969	.	A	T	2300.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.759;DP=768;ExcessHet=0;FS=0.602;MLEAC=1;MLEAF=0.083;MQ=48.87;MQRankSum=-0.18;QD=4.15;ReadPosRankSum=1.39;SOR=0.636	GT:AD:DP:GQ:PL	0/1:412,142:554:99:2310,0,10233	5	0	1	1
chr1	13318598	13318598	G	A	exonic	PRAMEF15	.	nonsynonymous SNV	PRAMEF15:NM_001098376:exon2:c.G191A:p.R64H	.	405	1091	26	0	0	26	0.0117754	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.0369774697323	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1472959485	0.0003	0.0067	0.0003	0.0003	0.0013	0.0003	0.0003	0.0007	0.0006	0.0005	0.0002	0.0002	0.0009	9.573e-05	0.0013	0.0003	0.0003	0.0005	0.0003	0.0025	0.0002	0.0003	0.0006	0.0002	0.0002	0.0002	0.0002	0.0004	0.0035	6.657e-05	0	0.0006	0.0002	0	0.0002	0.0005	0.0004	0.525	0.07140	T	0.575	0.08654	T	.	.	.	.	.	.	0.074092	0.02283	N	1.881130	1	0.08975	N	.	.	.	2.79	0.11189	T	-0.55	0.16799	N	0.044	0.01658	-1.0293	0.20681	T	0.015	0.05946	T	8	0.023069829	0.00593	T	0.001222	0.01608	T	.	.	.	.	0.0297737177859	0.01360	0.23243132047722803	0.23158	.	.	0.456076145172	0.32774	T	.	.	.	-0.42041	0.01700	T	-0.841667	0.01074	T	0.0221624638565028	0.00927	T	0.152485	0.01303	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.16973	B	.	.	-0.306877	0.02587	0.318	0.3247514774469345	0.01884	0.00112	0.00708	N	AEFI	0.021848	0.01021	N	-1.54749839839041	0.01549	0.06767291	-1.73690248014379	0.00983	0.04406507	1.1847666085279E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.15	-2.29	0.06419	-0.600000	0.05789	-8.133000	0.01022	-3.802000	0.00059	0.003000	0.16062	0.000000	0.08366	0.001000	0.02609	0.2401:0.3173:0.2441:0.1984	0.434	0.00444	.	.	.	.	.	.	.	.	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	327.63	38	chr1	13318598	.	G	A	327.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.38;DP=717;ExcessHet=0;FS=14.84;MLEAC=1;MLEAF=0.071;MQ=37.98;MQRankSum=-3.539;QD=1.26;ReadPosRankSum=-0.818;SOR=2.031	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:234,25:259:99:0|1:13318598_G_A:338,0,9513:13318598	6	0	1	0
chr1	13318601	13318601	G	A	exonic	PRAMEF15	.	nonsynonymous SNV	PRAMEF15:NM_001098376:exon2:c.G194A:p.R65H	.	406	1103	13	0	0	13	0.00585849	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.0336539354214	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1416469108	5.572e-05	0.0019	5.475e-05	5.67e-05	0.0009	4.569e-05	4.179e-05	0.0003	0.0002	8.969e-05	2.244e-05	0.0004	2.52e-05	1.877e-05	0.0009	3.437e-05	8.326e-05	0.0002	0.0001	0.0007	0.0002	0.0001	0.0006	9.796e-05	8.303e-05	0.0002	9.119e-05	9.639e-05	0	6.588e-05	0.0003	0	9.445e-05	0	0.0002	0.0005	0.0006	0.204	0.20078	T	0.542	0.09690	T	.	.	.	.	.	.	0.212854	0.03399	N	1.582610	1	0.08975	N	.	.	.	2.79	0.11189	T	-2.67	0.57110	D	0.089	0.06720	-0.9832	0.34258	T	0.043	0.18576	T	8	0.088977695	0.15370	T	0.001103	0.01312	T	.	.	.	.	0.0297737177859	0.01360	0.23248738235852817	0.23163	.	.	0.376942545176	0.21821	T	.	.	.	-0.398143	0.02381	T	-0.809682	0.01672	T	0.115081892617503	0.13942	T	0.555844	0.19272	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.16973	B	.	.	0.481113	0.08503	5.267	0.62407952715295867	0.06955	0.00427	0.02100	N	AEFI	0.022775	0.01181	N	-1.00019295008573	0.08600	0.4038423	-1.23786836837196	0.05313	0.2528468	1.09865888659562E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.15	0.144	0.14120	-0.846000	0.04444	-10.921000	0.00652	-0.668000	0.04312	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.2396:0.0:0.7604:0.0	4.502	0.11278	.	.	.	.	.	.	.	.	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	327.63	38	chr1	13318601	.	G	A	327.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.61;DP=525;ExcessHet=0;FS=14.84;MLEAC=1;MLEAF=0.071;MQ=37.93;MQRankSum=-3.539;QD=1.26;ReadPosRankSum=-1.426;SOR=2.031	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:234,25:259:99:0|1:13318598_G_A:338,0,9513:13318598	6	0	1	0
chr1	15467497	15467497	G	A	exonic	CELA2A	.	nonsynonymous SNV	CELA2A:NM_033440:exon7:c.G751A:p.V251I	.	.	.	.	.	.	.	.	.	.	.	3303800	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.525	0.0177263533856	0.0002	.	0.0001	0	0.0003	0.0001	0	0.0001	0	6.058e-05	8.41e-05	13	154602	rs376888050	0.0001	0.0001	0.0001	9.901e-05	0.0003	9.115e-05	8.645e-05	0.0002	0.0001	8.961e-05	0.0003	0	7.557e-05	0	0	0.0001	0.0002	3.478e-05	5.257e-05	5.253e-05	1.285e-05	9.416e-05	0.0002	2.557e-05	1.83e-05	5.285e-05	2.835e-05	0	0	0.0002	0	0	0	0	7.35e-05	0	0	0.046	0.40573	D	0.047	0.48855	D	0.578	0.38765	P	0.226	0.38054	B	0.000106	0.50451	U	0.000000	0.993682	0.42019	D	1.565	0.39561	L	-2.72	0.90622	D	-0.81	0.22294	N	0.647	0.65844	0.203	0.85954	D	0.589	0.85285	D	10	0.6296252	0.68441	D	0.017726	0.39542	T	0.525	0.79886	.	.	0.675404156814	0.67265	0.5120069098644205	0.51122	0.334029153294	0.35426	0.51552438736	0.40996	T	0.269022	0.64119	T	-0.0967974	0.36955	T	-0.0750978	0.65261	T	0.203400717516798	0.20602	T	0.636336	0.25008	T	0.17164148	0.37809	0.18535025	0.41642	0.17164148	0.37809	0.18535025	0.41641	-6.099	0.47100	T	0.3416487187396274	0.43937	0.191	0.41047	B	.	.	4.160095	0.62465	24.5	0.99269603870068224	0.57491	0.99027	0.90159	D	AEFDGI	0.909447	0.86609	D	0.0270020980629302	0.43085	2.60845	0.0220085936265131	0.40738	2.436101	0.999991417898029	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.08	3.08	0.34576	9.662000	0.97877	7.253000	0.57936	0.509000	0.23192	1.000000	0.71638	1.000000	0.68203	0.022000	0.11911	0.0:0.0:1.0:0.0	12.796	0.56940	917	0.20147	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	.	.	.	.	.	.	.	.	0.07143	2750.46	33	chr1	15467497	.	G	A	2750.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.845;DP=425;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.65;ReadPosRankSum=0.017;SOR=0.725	GT:AD:DP:GQ:PL	0/1:117,119:236:99:2761,0,2571	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	0/1:397,206:603:99:4847,0,11104	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	0/1:625,259:884:99:5186,0,17272	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	0/1:316,301:617:99:7546,0,9294	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	0/1:488,99:587:99:1345,0,17221	0	0	7	0
chr1	16564186	16564186	C	G	exonic	NBPF1	.	unknown	UNKNOWN	.	373	1100	49	0	0	49	0.0217875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0087	0.0025	0.0043	0	0.0106	0.0127	0.01	0.0034	0.0072444	1120	154602	rs200760413	0	2.379e-05	0	0	.	0	0	.	.	0	0	0	.	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.69154	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.334	0.37509	.	.	.	.	.	.	.	0.007929355	0.00180	T	.	.	.	.	.	.	.	0.0884992946249	0.08302	0.07312084663879208	0.07249	.	.	0.449560642242	0.31884	T	.	.	.	-0.456395	0.01035	T	-0.535872	0.18705	T	.	.	.	0.973753	0.92190	D	.	.	.	.	.	.	.	.	-6.486	0.50178	T	.	.	0.619	0.69641	P	.;.	.;.	1.785020	0.22693	15.72	0.44714069370902609	0.03458	0.00541	0.02492	N	AEFBCI	0.039570	0.05765	N	.	.	.	.	.	.	2.85478778828593E-4	0.06355	0.071217	0.01513	1	0.046471	0.00084	3	0.066767	0.01867	0	0.123	0.03924	1	.	.	0.566	-1.13	0.09274	-0.422000	0.07110	-7.525000	0.01138	0.312000	0.19173	0.005000	0.17040	0.000000	0.08366	0.015000	0.10482	.	.	.	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	0.036976	0.054945	0.042120	0.024793	0.000000	0.025862	0.026846	0.015873	0.1429	757.24	189	chr1	16564186	.	C	G	757.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.05;DP=1221;ExcessHet=0.3476;FS=0;MLEAC=2;MLEAF=0.143;MQ=52.46;MQRankSum=2.65;QD=1;ReadPosRankSum=-0.236;SOR=0.674	GT:AD:DP:GQ:PL	0/1:323,35:358:99:147,0,10618	5	0	2	0
chr1	16577387	16577387	T	C	exonic	NBPF1	.	unknown	UNKNOWN	.	356	799	367	0	0	367	0.186768	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0434	.	0.2397	0.1662	0.2034	0.4259	0.2658	0.2330	0.2715	0.2199	0.0002523	39	154602	rs672812	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.293	0.20811	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.327	0.36779	.	.	.	.	.	.	.	0.0049095154	0.00105	T	.	.	.	.	.	.	.	.	.	0.02503941752049605	0.02454	.	.	0.530892848969	0.43161	T	.	.	.	-0.607731	0.00131	T	-1.11074	0.00022	T	.	.	.	0.820118	0.47860	T	.	.	.	.	.	.	.	.	-10.2	0.75100	D	.	.	0.175	0.38263	B	.;.	.;.	-0.632514	0.01485	0.092	0.32524367853212488	0.01889	0.00033	0.00296	N	AEFI	0.015988	0.00334	N	.	.	.	.	.	.	7.48439775225963E-5	0.04552	0.163922	0.03765	0	0.096583	0.02683	0	0.083675	0.02720	0	0.24341	0.04801	0	.	.	.	.	.	-0.192000	0.09585	-8.658000	0.00933	-0.551000	0.04898	0.005000	0.17040	0.000000	0.08366	0.005000	0.06747	.	.	.	444	0.79803	.;.	.	.	.	.	.	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	0.224339	0.196970	0.248641	0.200820	0.150000	0.232759	0.243902	0.206107	0.1429	197.24	155	chr1	16577387	.	T	C	197.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=3.51;DP=1504;ExcessHet=0.3476;FS=3.264;MLEAC=2;MLEAF=0.143;MQ=44.03;MQRankSum=-3.813;QD=0.25;ReadPosRankSum=-1.508;SOR=1.225	GT:AD:DP:GQ:PL	0/1:383,45:428:99:164,0,10428	5	0	2	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|1:55,9:64:99:0|1:16579293_A_G:212,0,2279:16579293	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|1:55,9:64:99:0|1:16579293_A_G:212,0,2279:16579293	2	0	5	0
chr1	16579305	16579305	G	A	exonic	NBPF1	.	unknown	UNKNOWN	.	547	597	363	15	0	393	0.247637	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4396	0.4635	0.4334	0.4429	0.4244	0.4403	0.4359	0.4340	0.0011142	29	26028	rs10907245	0.0016	0.0023	0.0015	0.0017	0.0061	0.0015	0.0015	0.0053	0.0050	0.0061	0.0009	0.0028	0.0005	0.0002	0.0027	0.0016	0.0013	0.0019	0.0040	0.0094	0.0041	0.0039	0.0113	0.0037	0.0036	0.0105	0.0101	0.0113	0	0.0013	0.0026	0.0004	9.697e-05	0	0.0016	0.0049	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	0.062183	0.039216	0.051247	0.070000	0.000000	0.098214	0.070866	0.060345	0.1429	239.07	36	chr1	16579305	.	G	A	239.07	.	AC=2;AF=0.143;AN=14;BaseQRankSum=2.98;DP=250;ExcessHet=0.3476;FS=77.097;MLEAC=2;MLEAF=0.143;MQ=35.88;MQRankSum=-0.133;QD=2.28;ReadPosRankSum=-0.772;SOR=5.667	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:61,8:69:99:0|1:16579305_G_A:152,0,2512:16579305	5	0	2	0
chr1	16579308	16579308	G	C	exonic	NBPF1	.	unknown	UNKNOWN	.	536	678	298	10	0	318	0.189964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4169	0.4635	0.4098	0.4442	0.3977	0.4141	0.4226	0.4033	0.0009605	25	26028	rs10796417	2.988e-06	0.0001	2.05e-06	3.875e-06	1.313e-05	8e-07	2.2e-07	.	.	0	0	4.366e-05	0	0	0	1.416e-06	0	1.313e-05	4.685e-05	0.0005	7.844e-05	1.371e-05	7.453e-05	2.144e-05	1.549e-05	2.876e-05	1.88e-05	0	0	6.652e-05	0.0003	0	0	0	7.453e-05	0	0	.	.	.	0.114	0.36765	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.06190	.	.	.	.	.	.	.	0.0018868446	0.00026	T	.	.	.	.	.	.	.	.	.	0.03536828552245914	0.03483	.	.	0.579951882362	0.50079	T	.	.	.	-0.382433	0.03007	T	-0.787115	0.02245	T	.	.	.	0.920308	0.71149	D	.	.	.	.	.	.	.	.	-9.586	0.71394	D	.	.	0.175	0.38372	B	.;.	.;.	1.521589	0.19533	14.31	0.3543343570932736	0.02223	0.00520	0.02423	N	AEFI	0.030698	0.03141	N	.	.	.	.	.	.	6.38433801032419E-4	0.07505	0.183328	0.03972	0	0.096583	0.02683	0	0.083675	0.02720	0	0.185264	0.04187	1	.	.	.	.	.	0.649000	0.24529	-0.171000	0.11226	0.423000	0.20817	0.003000	0.16062	0.000000	0.08366	0.001000	0.02609	.	.	.	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	0.063613	0.029412	0.062500	0.055000	0.000000	0.098214	0.070866	0.068376	0.1429	239.07	36	chr1	16579308	.	G	C	239.07	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.425;DP=252;ExcessHet=0.3476;FS=77.097;MLEAC=2;MLEAF=0.143;MQ=35.98;MQRankSum=-0.133;QD=2.28;ReadPosRankSum=-0.438;SOR=5.667	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:61,8:69:99:0|1:16579305_G_A:152,0,2518:16579305	5	0	2	0
chr1	16591991	16591991	C	T	exonic	NBPF1	.	unknown	UNKNOWN	.	383	1060	79	0	0	79	0.0359254	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0043	0.0129792	0.0297	0.0079	0.0171	0.0005	0.0368	0.0429	0.0268	0.0118	0.0239389	3701	154602	rs199564458	0.0002	0.0002	0.0002	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	0.0002	2.238e-05	3.831e-05	0	0	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	0.0001	0.0002	0.0002	0.0004	0	0	0	0	0	0	0.0002	0	0	.	.	.	0.197	0.27855	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.258	0.29197	.	.	.	.	.	.	.	0.003590405	0.00065	T	.	.	.	.	.	.	.	.	.	0.05074882340970097	0.05016	.	.	0.617227673531	0.55337	T	.	.	.	-0.342333	0.05228	T	-0.729514	0.04349	T	.	.	.	0.806819	0.45619	T	.	.	.	.	.	.	.	.	-7.512	0.57695	D	.	.	0.081	0.08465	B	.;.	.;.	-0.110497	0.03581	0.696	0.68576904222900414	0.08701	0.00301	0.01603	N	AEFDBHCIJ	0.037390	0.05136	N	.	.	.	.	.	.	0.99999989870109	0.74766	0.205481	0.04072	1	0.188433	0.04229	0	0.216804	0.04610	0	0.364879	0.05822	1	.	.	0.566	-1.13	0.09274	-3.599000	0.00468	-6.832000	0.01295	-4.637000	0.00024	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	452	0.79239	.;.	.	.	.	.	.	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	0.044824	0.040816	0.053134	0.066116	0.050000	0.051724	0.040625	0.027344	0.07143	1476.44	35	chr1	16591991	.	C	T	1476.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.44;DP=2812;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=57.21;MQRankSum=-1.792;QD=1.83;ReadPosRankSum=2.79;SOR=0.636	GT:AD:DP:GQ:PL	0/1:674,132:806:99:1487,0,17095	6	0	1	0
chr1	16757526	16757526	C	G	exonic	MST1L	.	nonsynonymous SNV	MST1L:NM_001271733:exon14:c.G1900C:p.A634P	.	384	766	370	1	1	373	0.195378	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.404	.	.	.	0.1053	0.0655	0.1365	0.0133	0.1064	0.1147	0.0930	0.1251	0.0830326	12837	154602	rs2446543	6.846e-06	7.593e-05	8.174e-06	5.505e-06	3.482e-05	3.46e-06	2.52e-06	9.25e-06	4.56e-06	2.99e-05	0	0	0	0	0	5.4e-06	0	3.482e-05	2.629e-05	0.0002	3.858e-05	1.344e-05	6.547e-05	8.14e-06	5.14e-06	1.172e-05	6.25e-06	0	0	6.547e-05	0	0	0	0	4.416e-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	2417.24	171	chr1	16757526	.	C	G	2417.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.181;DP=1351;ExcessHet=0.3476;FS=0.68;MLEAC=2;MLEAF=0.143;MQ=41.34;MQRankSum=-0.211;QD=3.78;ReadPosRankSum=1.08;SOR=0.596	GT:AD:DP:GQ:PL	0/1:222,87:309:99:1771,0,5937	5	0	2	0
chr1	16758952	16758952	G	A	exonic	MST1L	.	nonsynonymous SNV	MST1L:NM_001271733:exon10:c.C1244T:p.P415L	.	333	1136	53	0	0	53	0.0227957	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	.	.	.	0.0252	0.0141	0.0169	0	0.0352	0.0336	0.0278	0.0134	0.0211511	3270	154602	rs202225848	0.0008	0.0071	0.0008	0.0008	0.0009	0.0008	0.0007	0.0009	0.0009	0.0003	0.0003	0.0004	0	0.0003	0.0005	0.0009	0.0006	0.0007	0.0021	0.0095	0.0020	0.0022	0.0031	0.0019	0.0018	0.0024	0.0021	0.0006	0.0023	0.0031	0.0024	0	0.0047	0	0.0025	0.0025	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	625.24	272	chr1	16758952	.	G	A	625.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-1.862;DP=2162;ExcessHet=0.3476;FS=4.016;MLEAC=2;MLEAF=0.143;MQ=50.19;MQRankSum=-3.129;QD=0.62;ReadPosRankSum=1.02;SOR=1.162	GT:AD:DP:GQ:PL	0/1:538,71:609:99:104,0,17360	5	0	2	0
chr1	16759590	16759590	-	C	exonic	MST1L	.	frameshift insertion	MST1L:NM_001271733:exon7:c.811dupG:p.A271Gfs*26	.	687	520	144	171	0	486	0.31848	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0.0027	0.0007	0.0003	0	0.0010	0	0.0007	0.0097587	254	26028	rs200532237	0.0004	0.0070	0.0004	0.0004	0.0030	0.0003	0.0003	0.0023	0.0021	0.0030	0.0007	0.0005	0.0006	9.298e-05	0.0004	0.0002	0.0007	0.0008	0.0020	0.0100	0.0019	0.0021	0.0059	0.0016	0.0015	0.0045	0.0039	0.0059	0.0022	0.0010	0.0037	0.0009	0.0016	0	0.0008	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	2070.98	13	chr1	16759590	.	G	GC	2070.98	.	AC=8;AF=0.571;AN=14;BaseQRankSum=5.81;DP=263;ExcessHet=0.0509;FS=7.311;MLEAC=8;MLEAF=0.571;MQ=43.96;MQRankSum=-0.716;QD=10.57;ReadPosRankSum=-3.26;SOR=0.626	GT:AD:DP:GQ:PL	0/1:65,25:90:99:612,0,2037	2	3	2	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	0/1:181,65:246:99:1238,0,4733	1	0	6	0
chr1	16760848	16760848	G	C	exonic	MST1L	.	nonsynonymous SNV	MST1L:NM_001271733:exon3:c.C241G:p.H81D	.	321	1179	22	0	0	22	0.0092437	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	.	.	.	0.0022	0.0031	0.0012	0	0.0029	0.0027	0.0011	0.0013	0.0023609	365	154602	rs186420363	6.955e-05	0.0005	6.712e-05	7.2e-05	0.0007	5.818e-05	5.427e-05	0.0005	0.0004	0.0007	2.291e-05	0	0	1.894e-05	0	4.791e-05	5.004e-05	0.0002	0.0002	0.0014	0.0002	0.0002	0.0006	0.0002	0.0001	0.0004	0.0004	0.0006	0	6.575e-05	0.0006	0	0.0002	0	2.955e-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	937.24	262	chr1	16760848	.	G	C	937.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-1.747;DP=1967;ExcessHet=0.3476;FS=4.031;MLEAC=2;MLEAF=0.143;MQ=57.75;MQRankSum=-6.867;QD=1.11;ReadPosRankSum=2.16;SOR=1.132	GT:AD:DP:GQ:PL	0/1:494,70:564:99:445,0,14634	5	0	2	0
chr1	17363711	17363711	C	A	exonic	PADI4	.	nonsynonymous SNV	PADI4:NM_012387:exon16:c.C1948A:p.R650S	.	397	1116	8	1	0	10	0.0044603	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.0641725735064	0.0011	0.000998403	0.0009	0.0002	0.0002	0	0	0.0014	0.0011	0.0005	0.0008667	134	154602	rs147723249	0.0011	0.0011	0.0011	0.0011	0.0071	0.0010	0.0010	0.0054	0.0048	0.0003	0.0004	0.0058	0	1.872e-05	0.0071	0.0011	0.0020	0.0005	0.0009	0.0009	0.0009	0.0009	0.0014	0.0008	0.0007	0.0009	0.0008	0.0003	0	0.0014	0.0066	0	0	0.0034	0.0011	0.0038	0.0002	0.003	0.68238	D	0.005	0.72224	D	0.911	0.50336	P	0.488	0.47288	P	0.000086	0.51296	D	0.135856	0.71375	0.33545	D	3.35	0.91085	M	1.39	0.33842	T	-5.07	0.82830	D	0.664	0.67304	-0.6742	0.61638	T	0.117	0.41320	T	10	0.030071408	0.01133	T	0.064173	0.69195	D	0.186	0.46104	.	.	0.475034548194	0.47131	0.790082007336491	0.78960	0.544487186864	0.51500	0.446297347546	0.31439	T	0.266909	0.63889	T	-0.346734	0.04935	T	-0.311369	0.43511	T	0.117445082606305	0.14177	T	.	.	.	0.8206069	0.85261	0.58577144	0.75978	0.8206069	0.85262	0.58577144	0.75978	-9.608	0.71529	D	.	.	0.540	0.66364	A	.	.	4.455739	0.69304	25.4	0.99623209956037773	0.75533	0.95497	0.64956	D	AEFGBI	0.711918	0.66521	D	0.388192528819323	0.60782	4.270988	0.299905922207495	0.55533	3.716378	0.998152924204491	0.36500	0.549168	0.22868	0	0.627178	0.54094	0	0.573078	0.19857	0	0.564101	0.26826	0	.	.	4.68	2.8	0.31881	3.842000	0.55567	2.673000	0.33962	0.599000	0.40250	1.000000	0.71638	0.994000	0.32194	0.895000	0.43227	0.1505:0.7432:0.0:0.1063	7.274	0.25449	668	0.61153	Protein-arginine deiminase, 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	0.008056	0.005051	0.010870	0.005848	0.000000	0.034483	0.000000	0.000000	0.07143	1449.44	34	chr1	17363711	.	C	A	1449.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.23;DP=314;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.15;ReadPosRankSum=-0.736;SOR=0.648	GT:AD:DP:GQ:PL	0/1:72,58:130:99:1460,0,1641	6	0	1	0
chr1	18227930	18227930	C	T	exonic	IGSF21	.	nonsynonymous SNV	IGSF21:NM_032880:exon2:c.C103T:p.P35S	.	.	.	.	.	.	.	.	.	.	.	2385366	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.284	0.0379712958007	.	.	5.766e-05	0	8.637e-05	0	0	7.492e-05	0	6.056e-05	5.17e-05	8	154602	rs150336992	6.43e-05	6.43e-05	6.671e-05	6.188e-05	0.0002	5.361e-05	4.976e-05	6.234e-05	5.739e-05	2.987e-05	6.708e-05	0	0	0	0.0002	7.554e-05	6.624e-05	1.16e-05	3.286e-05	3.283e-05	1.285e-05	5.382e-05	5.879e-05	1.261e-05	7.98e-06	1.972e-05	1.124e-05	2.413e-05	0	0	0	0	0	0	5.879e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000001	0.62929	D	0.000000	0.999999	0.58761	D	2.365	0.68172	M	0.49	0.55775	T	-1.05	0.27463	N	0.748	0.74735	-0.6637	0.62113	T	0.289	0.66084	T	10	0.82294214	0.81488	D	0.037971	0.57939	D	0.284	0.60219	0.512	0.61000	0.694970612564	0.69234	0.6783252565757172	0.67771	0.884775936026	0.69930	0.671310186386	0.63025	T	0.038423	0.24835	T	-0.0447645	0.45241	T	-0.0763758	0.65167	T	0.330641955137253	0.26250	T	0.912209	0.68770	D	0.320655	0.54696	0.29962823	0.55997	0.320655	0.54696	0.29962823	0.55996	-6.873	0.53100	T	.	.	0.228	0.46013	B	.	.	4.752699	0.76759	26.6	0.99926133650025362	0.99103	0.95659	0.65613	D	AEFDBI	0.684789	0.64702	D	0.480470928606266	0.65951	4.887501	0.430495518153291	0.63474	4.581775	0.999999963337661	0.74766	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.28	5.28	0.74118	7.025000	0.76187	7.630000	0.62690	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.092000	0.17891	0.0:1.0:0.0:0.0	14.452	0.66969	973	0.05605	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	2679.44	50	chr1	18227930	.	C	T	2679.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.83;DP=427;ExcessHet=0;FS=0.493;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.23;ReadPosRankSum=-0.417;SOR=0.641	GT:AD:DP:GQ:PL	0/1:109,110:219:99:2690,0,2461	6	0	1	0
chr1	18877457	18877457	C	T	exonic	ALDH4A1	.	nonsynonymous SNV	ALDH4A1:NM_001161504:exon10:c.G916A:p.G306R,ALDH4A1:NM_001319218:exon10:c.G1096A:p.G366R,ALDH4A1:NM_003748:exon10:c.G1096A:p.G366R,ALDH4A1:NM_170726:exon10:c.G1096A:p.G366R	Hyperprolinemia, type II, Autosomal recessive	0	1453	65	4	0	73	0.0245049	.	.	.	690430	not_provided|Hyperprolinemia_type_2	MedGen:C3661900|MONDO:MONDO:0009401,MedGen:C2931835,OMIM:239510,Orphanet:79101	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.038	.	0.001	0.00179712	0.0075	0.0005	0.0055	0	0.0012	0.0062	0.0065	0.0170	0.0027813	430	154602	rs41306567	0.0022	0.0022	0.0018	0.0026	0.0133	0.0021	0.0021	0.0127	0.0124	0.0004	0.0016	0.0032	2.573e-05	0.0001	0.0094	0.0015	0.0027	0.0133	0.0017	0.0017	0.0014	0.0020	0.0110	0.0015	0.0015	0.0086	0.0078	0.0004	0	0.0029	0.0014	0	0	0.0102	0.0020	0.0028	0.0110	0.133	0.26409	T	0.135	0.36901	T	0.001	0.07471	B	0.009	0.14300	B	0.663870	0.10403	N	0.849423	0.791045	0.34620	D	0.155	0.08919	N	1.59	0.28836	T	0.42	0.05503	N	0.32	0.38027	-1.0269	0.21462	T	0.044	0.18742	T	10	0.007830828	0.00178	T	.	.	.	0.038	0.09825	0.412	0.44887	0.262662153117	0.25859	0.688120731099813	0.68752	0.164871079818	0.18598	0.291973412037	0.09209	T	0.055247	0.29952	T	-0.505176	0.00534	T	-0.487396	0.23664	T	0.0081906171203606	0.00098	T	0.831217	0.49813	T	0.22828704	0.45545	0.15461615	0.36279	0.23813418	0.46687	0.12986113	0.31215	-3.624	0.35202	T	.	.	0.141	0.30971	B	.;.;.;.	.;.;.;.	2.596631	0.33695	19.42	0.98291500001102539	0.39954	0.80761	0.40317	D	AEFBI	0.355282	0.44707	N	-0.584069613298834	0.19427	1.016747	-0.409398648436248	0.24722	1.355339	0.17949397804824	0.17851	0.706298	0.61202	0	0.709663	0.81188	0	0.723109	0.80598	0	0.683762	0.67416	0	.	.	4.52	2.65	0.30588	1.723000	0.37675	2.747000	0.34506	-0.193000	0.09282	0.999000	0.42656	0.998000	0.33993	0.915000	0.45038	0.0:0.8248:0.0:0.1752	9.567	0.38570	952	0.10565	Aldehyde dehydrogenase domain;.;Aldehyde dehydrogenase 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	0.014691	0.010417	0.010899	0.020468	0.000000	0.008621	0.012270	0.026515	0.07143	2332.44	35	chr1	18877457	.	C	T	2332.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.868;DP=405;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.72;ReadPosRankSum=2.47;SOR=0.708	GT:AD:DP:GQ:PL	0/1:98,101:199:99:2343,0,2221	6	0	1	0
chr1	20744913	20744913	T	G	exonic	HP1BP3	.	nonsynonymous SNV	HP1BP3:NM_001376792:exon12:c.A1432C:p.I478L,HP1BP3:NM_001376793:exon12:c.A1432C:p.I478L,HP1BP3:NM_001376794:exon12:c.A1432C:p.I478L,HP1BP3:NM_001372052:exon13:c.A1546C:p.I516L,HP1BP3:NM_001376787:exon13:c.A1546C:p.I516L,HP1BP3:NM_001376788:exon13:c.A1546C:p.I516L,HP1BP3:NM_001376789:exon13:c.A1546C:p.I516L,HP1BP3:NM_001376790:exon13:c.A1546C:p.I516L,HP1BP3:NM_001376791:exon13:c.A1432C:p.I478L,HP1BP3:NM_016287:exon13:c.A1546C:p.I516L	.	432	1039	48	3	0	54	0.0253283	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	.	0.0062	0.0061901	0.0088	0.0006	0.0046	0	0.0080	0.0092	0.0143	0.0203	0.0082276	1272	154602	rs143662289	0.0073	0.0073	0.0066	0.0080	0.0376	0.0072	0.0072	0.0335	0.0319	0.0008	0.0043	0.0202	5.038e-05	0.0072	0.0376	0.0063	0.0082	0.0211	0.0062	0.0062	0.0058	0.0065	0.0199	0.0058	0.0057	0.0167	0.0155	0.0007	0	0.0077	0.0207	0.0002	0.0066	0.0238	0.0079	0.0061	0.0199	0.032	0.50132	D	0.275	0.26549	T	0.009	0.15093	B	0.004	0.10090	B	0.069032	0.21632	N	0.564340	0.687198	0.37141	D	1.445	0.36358	L	0.94	0.43672	T	-0.12	0.08809	N	0.325	0.36569	-1.0901	0.05515	T	0.052	0.22192	T	10	0.0046370924	0.00097	T	.	.	.	0.084	0.24469	.	.	0.374666004776	0.37081	0.10056419101934105	0.09987	0.412663807226	0.42000	0.467990338802	0.34404	T	0.110325	0.42492	T	-0.493097	0.00625	T	-0.46482	0.26076	T	0.0173872481172747	0.00476	T	0.848015	0.52922	T	0.07862429	0.17917	0.06862366	0.14354	0.07862429	0.17916	0.06862366	0.14353	-2.562	0.06220	T	.	.	0.074	0.08417	B	.;.	.;.	2.015459	0.25613	16.82	0.97495809088178342	0.34267	0.93837	0.59334	D	AEFBI	0.271324	0.38720	N	-0.220604252172807	0.32289	1.819389	-0.0400367515107408	0.37925	2.227194	0.99949691020627	0.40007	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.53	4.37	0.51830	2.547000	0.45446	3.359000	0.37844	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.1515:0.0:0.8485	8.529	0.32485	861	0.33516	.;.	.	.	.	.	.	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	0.020141	0.010101	0.014946	0.035088	0.000000	0.025862	0.024390	0.011364	0.07143	1154.53	33	chr1	20744913	.	T	G	1154.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.54;DP=293;ExcessHet=0;FS=1.559;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.59;ReadPosRankSum=1.59;SOR=0.507	GT:AD:DP:GQ:PL	0/1:60,49:109:99:1165,0,1399	6	0	1	0
chr1	24605622	24605622	C	T	exonic	NCMAP	.	nonsynonymous SNV	NCMAP:NM_001010980:exon4:c.C184T:p.R62W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.267	0.0396422574951	.	.	2.479e-05	0	0	0	0	1.504e-05	0	0.0001	1.94e-05	3	154602	rs763527893	1.231e-05	1.231e-05	8.167e-06	1.65e-05	5.797e-05	7.7e-06	6.35e-06	2.194e-05	1.43e-05	0	2.236e-05	0	0	0	0	8.093e-06	4.967e-05	5.797e-05	2.629e-05	2.627e-05	1.285e-05	4.035e-05	0.0002	8.14e-06	5.14e-06	.	.	2.414e-05	0	0	0	0.0002	0	0	1.47e-05	0	0.0002	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.96	0.70309	D	0.000000	0.84330	D	0.000000	0.939888	0.37277	D	2.42	0.70002	M	.	.	.	-7.89	0.96166	D	0.892	0.89131	-0.4754	0.69534	T	0.265	0.63577	T	9	0.70283616	0.72552	D	0.039642	0.58928	D	0.267	0.58126	0.499	0.58991	0.184867976434	0.18130	0.38543112137561175	0.38458	1.10029828392	0.77706	0.623813390732	0.56267	T	0.31848	0.68985	T	0.181298	0.72161	D	0.204174	0.83357	D	0.997920334339142	0.92772	D	0.925407	0.72589	D	0.8730168	0.89102	0.69332236	0.81948	0.8730168	0.89104	0.69332236	0.81949	-6.711	0.51893	T	.	.	0.406	0.59931	A	.	.	4.467060	0.69576	25.4	0.99903172937617346	0.97426	0.65805	0.32861	D	AEFDBHCI	0.355681	0.44733	N	0.398744597995159	0.61355	4.335353	0.396150784899807	0.61329	4.331282	0.999979695083638	0.50053	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.71	4.77	0.60425	0.506000	0.22367	0.307000	0.17042	0.599000	0.40250	0.953000	0.33222	0.291000	0.24165	0.934000	0.47231	0.3181:0.6819:0.0:0.0	11.799	0.51386	825	0.40060	.	.	.	.	.	.	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	1533.27	34	chr1	24605622	.	C	T	1533.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.238;DP=340;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.5;ReadPosRankSum=1.37;SOR=0.658	GT:AD:DP:GQ:PL	0/1:79,67:146:99:1543,0,1952	5	0	1	1
chr1	25392026	25392026	C	G	exonic	RHCE	.	nonsynonymous SNV	RHCE:NM_001330430:exon4:c.G602C:p.R201T,RHCE:NM_020485:exon4:c.G602C:p.R201T,RHCE:NM_138618:exon4:c.G602C:p.R201T	Rh-null disease, amorph type (3)	422	1071	27	2	0	31	0.014266	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.00149342305908	0.0003	0.000599042	0.0002	0.0003	0	0	0	0.0002	0.0011	0.0003	0.000194	30	154602	rs141398055	0.0001	0.0002	0.0001	0.0002	0.0038	0.0001	0.0001	0.0026	0.0022	0.0005	8.945e-05	3.826e-05	2.519e-05	1.872e-05	0.0038	6.925e-05	0.0004	0.0008	0.0004	0.0006	0.0004	0.0003	0.0010	0.0003	0.0003	0.0008	0.0007	0.0010	0	0.0001	0	0.0002	0	0	0.0001	0.0005	0.0004	1.0	0.09236	T	0.511	0.11479	T	0.0	0.02946	B	0.002	0.06944	B	0.355312	0.04271	N	1.419120	1	0.08975	N	.	.	.	2.01	0.21291	T	1.28	0.01064	N	0.09	0.08366	-0.9463	0.41599	T	0.009	0.03403	T	10	0.011372298	0.00249	T	0.001493	0.02292	T	0.017	0.02790	.	.	0.0675242888579	0.06100	0.16438441148644187	0.16358	0.435991438937	0.43702	0.259397000074	0.04819	T	.	.	.	-0.53759	0.00346	T	-0.693831	0.06170	T	0.00728348726458671	0.00083	T	0.625137	0.24143	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.01367	B	.;.;.;.	.;.;.;.	-0.997177	0.00775	0.025	0.14596752121476211	0.00327	0.00226	0.01270	N	AEFBI	0.059444	0.11227	N	-1.99068234749651	0.00221	0.009494172	-1.98396137076601	0.00331	0.01461554	0.00356972976400403	0.10179	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	3.99	-7.76	0.01094	-0.843000	0.04457	-0.427000	0.09246	-0.729000	0.03740	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5986:0.2519:0.1494:0.0	6.936	0.23646	881	0.29269	Ammonium transporter AmtB-like domain;Ammonium transporter AmtB-like domain;Ammonium transporter AmtB-like domain;Ammonium transporter AmtB-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	1	0	0	1	0	0	0	0.005035	0.000000	0.002717	0.008772	0.000000	0.000000	0.006098	0.011364	0.2143	7063.72	197	chr1	25392026	.	C	G	7063.72	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-0.824;DP=657;ExcessHet=1.1394;FS=1.116;MLEAC=3;MLEAF=0.214;MQ=59.54;MQRankSum=-1.64;QD=14.1;ReadPosRankSum=0.75;SOR=0.772	GT:AD:DP:GQ:PL	0/1:132,158:290:99:4066,0,3365	4	0	3	0
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|0:0,11:30:99:0|1:26282270_C_T:1213,795,762:26282270	1	2	3	1
chr1	26282374	26282376	ACC	0	exonic	UBXN11	.	.	.	.	400	608	276	45	193	559	0.231353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	3694.53	26	chr1	26282374	.	ACC	*	3694.53	.	AC=2;AF=0.2;AN=10;BaseQRankSum=0.23;DP=209;ExcessHet=0.7136;FS=6.668;MLEAC=2;MLEAF=0.2;MQ=60;MQRankSum=0;QD=21.23;ReadPosRankSum=0.296;SOR=0.34	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:14,19:33:99:0|1:26282270_C_T:756,0,528:26282270	3	0	2	2
chr1	33021406	33021406	C	T	exonic	AK2	.	nonsynonymous SNV	AK2:NM_001319142:exon3:c.G260A:p.S87N,AK2:NM_001199199:exon4:c.G386A:p.S129N,AK2:NM_001319141:exon4:c.G386A:p.S129N,AK2:NM_001625:exon4:c.G386A:p.S129N,AK2:NM_013411:exon4:c.G386A:p.S129N,AK2:NM_001319139:exon5:c.G242A:p.S81N,AK2:NM_001319140:exon5:c.G242A:p.S81N	Reticular dysgenesis, Autosomal recessive	0	1493	28	1	0	30	0.00994695	.	.	.	498579	not_provided|Reticular_dysgenesis|not_specified|AK2-related_disorder	MedGen:C3661900|MONDO:MONDO:0009973,MedGen:C0272167,OMIM:267500,Orphanet:33355|MedGen:CN169374|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.128	0.0168867353057	0.0041	0.00219649	0.0042	0.0012	0.0006	0.0001	0.0006	0.0055	0.0011	0.0073	0.0043402	671	154602	rs61750965	0.0058	0.0058	0.0058	0.0058	0.0066	0.0057	0.0056	0.0065	0.0065	0.0010	0.0008	0.0062	2.519e-05	0.0004	0.0054	0.0066	0.0052	0.0056	0.0037	0.0037	0.0039	0.0036	0.0065	0.0035	0.0034	0.0060	0.0058	0.0014	0	0.0011	0.0081	0	0.0005	0	0.0065	0.0005	0.0035	0.464	0.09776	T	0.511	0.13832	T	0.0	0.33195	B	0.0	0.33146	B	0.063043	0.22053	N	0.591019	0.903657	0.81001	D	-0.69	0.01958	N	-0.99	0.76300	T	-0.2	0.13226	N	0.491	0.55886	-0.7014	0.60371	T	0.151	0.47962	T	10	0.013360918	0.00284	T	0.016887	0.38356	T	0.128	0.35103	.	.	0.648273525633	0.64535	0.4614190285344923	0.46059	0.175094801446	0.19712	0.410182654858	0.26482	T	0.162272	0.55157	T	-0.41274	0.01907	T	-0.360522	0.37994	T	0.0178057090999815	0.00509	T	0.940106	0.77361	D	0.11311202	0.26716	0.08396349	0.19281	0.12688412	0.29707	0.080425434	0.18192	-2.657	0.07379	T	.	.	0.151	0.39339	B	.;.;.;.;.	.;.;.;.;.	2.348688	0.30108	18.33	0.91303506057907224	0.20564	0.90869	0.52415	D	AEFGBI	0.216083	0.34136	N	-0.229406234226005	0.31931	1.795564	-0.0138875495912115	0.39088	2.312276	0.922964593518304	0.26726	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.35	4.43	0.52967	2.399000	0.44148	1.764000	0.28577	0.599000	0.40250	1.000000	0.71638	0.990000	0.31317	1.000000	0.97212	0.0:0.8531:0.0:0.1469	10.866	0.46063	542	0.72843	.;.;.;.;.	.	.	.	.	.	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	0.005045	0.000000	0.001362	0.000000	0.000000	0.000000	0.006135	0.022727	0.08333	568.27	19	chr1	33021406	.	C	T	568.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.098;DP=205;ExcessHet=0;FS=1.143;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.93;ReadPosRankSum=-0.781;SOR=0.992	GT:AD:DP:GQ:PL	0/1:28,24:52:99:578,0,675	5	0	1	1
chr1	33864536	33864536	C	A	exonic	HMGB4	.	nonsynonymous SNV	HMGB4:NM_001379301:exon1:c.C345A:p.N115K,HMGB4:NM_001352984:exon2:c.C123A:p.N41K,HMGB4:NM_145205:exon2:c.C345A:p.N115K	.	427	1076	19	0	0	19	0.00875173	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.621	.	0.0078	0.00698882	0.0094	0.0023	0.0032	0	0.0127	0.0119	0.0044	0.0122	0.0091137	1409	154602	rs61769874	0.0098	0.0098	0.0096	0.0099	0.0106	0.0096	0.0096	0.0104	0.0103	0.0015	0.0046	0.0092	2.519e-05	0.0093	0.0097	0.0105	0.0097	0.0106	0.0079	0.0079	0.0079	0.0080	0.0117	0.0076	0.0074	0.0110	0.0108	0.0020	0.0011	0.0071	0.0092	0	0.0116	0.0170	0.0117	0.0090	0.0087	0.027	0.46513	D	0.029	0.54541	D	.	.	.	.	.	.	0.000049	0.53742	D	0.118681	1	0.81001	D	3.01	0.86067	M	-4.9	0.98333	D	-3.41	0.67129	D	0.392	0.43320	0.818	0.94637	D	0.915	0.97197	D	10	0.0122460425	0.00264	T	.	.	.	0.621	0.85301	0.651	0.78858	0.909459114912	0.90855	0.22794373970563533	0.22709	0.0582104493871	0.06448	0.61914151907	0.55608	T	0.625388	0.88318	D	-0.302978	0.08382	T	-0.19566	0.55057	T	0.0551873799059558	0.06388	T	0.546045	0.18695	T	0.32978013	0.55453	0.29031798	0.55054	0.32978013	0.55453	0.29031798	0.55053	-4.847	0.35134	T	.	.	0.513	0.65167	A	.;.	.;.	1.936107	0.24588	16.45	0.99433507769984386	0.64374	0.30851	0.24188	N	AEFBI	0.152684	0.27740	N	-0.164568584820478	0.34616	1.978042	-0.339843534843139	0.26825	1.484254	0.304339413000223	0.19222	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.43	-1.44	0.08391	-1.080000	0.03517	-2.560000	0.03608	-0.204000	0.08590	0.013000	0.18845	0.000000	0.08366	0.904000	0.43992	0.0:0.481:0.0:0.519	9.033	0.35431	334	0.86273	High mobility group box domain|High mobility group box domain|High mobility group box domain;High mobility group box domain|High mobility group box domain|High mobility group 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	0.010574	0.005051	0.014946	0.000000	0.000000	0.017241	0.009146	0.015152	0.07143	1977.44	46	chr1	33864536	.	C	A	1977.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.102;DP=397;ExcessHet=0;FS=4.513;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.06;ReadPosRankSum=-0.706;SOR=0.837	GT:AD:DP:GQ:PL	0/1:84,80:164:99:1988,0,2087	6	0	1	0
chr1	37969440	37969440	G	C	exonic	SF3A3	.	nonsynonymous SNV	SF3A3:NM_001320830:exon12:c.C1036G:p.L346V,SF3A3:NM_006802:exon14:c.C1195G:p.L399V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.695	0.0404402354651	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.005	0.72224	D	0.999	0.77913	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.48	0.92553	M	.	.	.	-2.62	0.56301	D	0.735	0.73555	0.330	0.88030	D	0.601	0.85821	D	9	0.8010634	0.79507	D	0.04044	0.59376	D	0.695	0.88960	0.666	0.80401	0.502157479645	0.49853	0.9475430450175392	0.94737	2.2311931778	0.95933	0.866872191429	0.92117	D	0.474386	0.80585	T	0.382666	0.88879	D	0.311897	0.88739	D	0.968859957868249	0.68386	D	0.985781	0.95172	D	0.83350277	0.86148	0.68840945	0.81671	0.83350277	0.86150	0.68840945	0.81671	-10.738	0.78201	D	.	.	0.999	0.98631	P	.	.	5.166724	0.86585	29.0	0.99865253356157146	0.94366	0.98916	0.88583	D	AEFBI	0.696538	0.65485	D	0.88846885093404	0.91182	10.756	0.81904994074954	0.91085	10.71129	0.999999998534391	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.5	5.5	0.81386	4.656000	0.61178	11.718000	0.94767	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.0:0.0:1.0:0.0	19.786	0.96436	458	0.78890	Domain of unknown function DUF3449	.	.	.	.	.	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	31.25	53	chr1	37969440	.	G	C	31.25	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.381;DP=401;ExcessHet=0;FS=413.658;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=0.52;ReadPosRankSum=-1.129;SOR=9.269	GT:AD:DP:GQ:PL	0/1:41,19:73:41:41,0,670	5	0	1	1
chr1	40237683	40237683	T	C	exonic	RLF	.	nonsynonymous SNV	RLF:NM_012421:exon8:c.T2981C:p.F994S	.	428	1090	4	0	0	4	0.0018315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.00664735501012	0.0005	0.000199681	0.0004	0.0003	0	0	0.0003	0.0006	0	0.0002	0.0003816	59	154602	rs147019277	0.0006	0.0006	0.0006	0.0006	0.0007	0.0006	0.0006	0.0007	0.0007	5.974e-05	8.944e-05	0	0	0.0004	0.0005	0.0007	0.0008	0.0003	0.0004	0.0004	0.0004	0.0003	0.0008	0.0003	0.0003	0.0005	0.0004	4.81e-05	0	0.0003	0	0	0.0004	0	0.0006	0.0005	0.0008	0.226	0.18562	T	0.507	0.10930	T	0.006	0.13644	B	0.01	0.14941	B	0.041599	0.23933	N	0.472859	1	0.08975	N	1.1	0.28011	L	2.59	0.13317	T	-1.3	0.32590	N	0.167	0.17691	-1.0193	0.23943	T	0.027	0.11707	T	10	0.023788124	0.00633	T	0.006647	0.17557	T	0.084	0.24469	.	.	0.231005064126	0.22704	0.3144841013820252	0.31361	0.758103566617	0.64108	0.436444729567	0.30092	T	0.013034	0.11349	T	-0.462222	0.00952	T	-0.477259	0.24738	T	0.0100472527472527	0.00134	T	0.528347	0.17454	T	0.12935859	0.30215	0.12099004	0.29195	0.12935859	0.30215	0.12099004	0.29195	-2.147	0.03791	T	.	.	0.093	0.13969	B	.	.	1.314946	0.17185	13.01	0.80573174261084302	0.13267	0.47710	0.28044	N	AEFGBI	0.097100	0.19591	N	-0.444119267222908	0.23940	1.289148	-0.332319207715271	0.27061	1.499013	0.999913276624352	0.45857	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.43	5.43	0.79006	1.926000	0.39715	4.083000	0.41752	0.665000	0.62972	0.154000	0.23713	1.000000	0.68203	0.589000	0.31115	0.0:0.0734:0.0:0.9266	10.766	0.45494	764	0.49969	.	.	.	.	.	.	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	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.07143	1750.44	37	chr1	40237683	.	T	C	1750.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.812;DP=348;ExcessHet=0;FS=5.887;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.44;ReadPosRankSum=-1.023;SOR=0.678	GT:AD:DP:GQ:PL	0/1:86,67:153:99:1761,0,2393	6	0	1	0
chr1	41382209	41382209	-	GGGACGCCCGCCTACTT	exonic	FOXO6	.	frameshift insertion	FOXO6:NM_001291281:exon3:c.1008_1009insGGGACGCCCGCCTACTT:p.Q337Gfs*163	.	632	828	31	5	26	67	0.0241603	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.473e-06	2.806e-05	6.751e-06	1.048e-05	9.272e-06	3.52e-06	2.27e-06	3.86e-06	2.48e-06	0	0	0	0	0	0	9.272e-06	0	0	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	176.55	8	chr1	41382209	.	C	CGGGACGCCCGCCTACTT	176.55	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.15;DP=66;ExcessHet=0.4139;FS=2.671;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.81;ReadPosRankSum=-0.189;SOR=2.11	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:8,2:10:60:.:.:60,0,310:.	5	0	1	1
chr1	43222837	43222837	-	CAC	exonic	CFAP57	.	nonframeshift insertion	CFAP57:NM_001195831:exon16:c.2546_2547insCAC:p.V849_R850insT,CFAP57:NM_001378189:exon16:c.2546_2547insCAC:p.V849_R850insT	.	2	1507	12	1	0	14	0.00462351	.	.	.	3197253	CFAP57-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	.	.	.	0.00638978	0.0160	0.0016	0.0055	0.0047	0	0	0	0.0431	0.0003842	10	26028	rs549638533	0.0022	0.0021	0.0015	0.0028	0.0248	0.0021	0.0021	0.0239	0.0235	0.0002	0.0005	0	0.0030	2.084e-05	0.0039	0.0007	0.0029	0.0248	0.0013	0.0013	0.0008	0.0019	0.0237	0.0012	0.0011	0.0202	0.0189	0.0003	0	0.0003	0	0.0056	0	0.0102	0.0006	0.0005	0.0237	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1150.79	19	chr1	43222837	.	T	TCAC	1150.79	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.994;DP=197;ExcessHet=0;FS=4.314;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=23.97;ReadPosRankSum=0.359;SOR=0.25	GT:AD:DP:GQ:PL	0/1:19,29:48:99:1161,0,705	6	0	1	0
chr1	43317671	43317671	C	G	exonic	TIE1	.	nonsynonymous SNV	TIE1:NM_001253357:exon16:c.C2593G:p.R865G,TIE1:NM_005424:exon16:c.C2728G:p.R910G	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.252	0.0226794295719	.	.	8.885e-06	0	0	0	0	1.55e-05	0	0	6.5e-06	1	154602	rs767096356	1.336e-05	1.3e-05	1.111e-05	1.565e-05	1.467e-05	8.54e-06	6.88e-06	8.68e-06	7.03e-06	0	0	0	0	0	0	1.467e-05	5.125e-05	0	1.972e-05	1.97e-05	2.57e-05	1.346e-05	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	0.075	0.34444	T	0.086	0.40909	T	0.311	0.32818	B	0.079	0.28749	B	0.005451	0.32788	N	0.000000	1	0.81001	D	0.055	0.08163	N	-0.31	0.68030	T	-3.9	0.72932	D	0.628	0.64223	-0.9391	0.42759	T	0.130	0.43927	T	10	0.42453164	0.57085	T	0.022679	0.45590	T	0.252	0.56159	0.518	0.61915	0.797057192974	0.79517	0.6472616862582125	0.64661	1.01917520793	0.75045	0.787860453129	0.80117	T	0.587789	0.86600	D	0.0673356	0.60524	T	-0.115873	0.62140	T	0.644649353959447	0.38234	D	0.831217	0.49813	T	0.40080827	0.60788	0.34614545	0.60287	0.40080827	0.60789	0.34614545	0.60286	-7.872	0.60194	D	.	.	0.155	0.34383	B	.	.	4.024626	0.59468	24.1	0.99587081787087228	0.73395	0.96599	0.69949	D	AEFDBI	0.901801	0.84892	D	-0.0927595659874389	0.37709	2.197827	0.12497176450314	0.45830	2.839252	0.999932457783152	0.46732	0.706298	0.61202	0	0.709663	0.81188	0	0.602189	0.34648	0	0.711	0.71501	0	.	.	5.66	5.66	0.87293	2.306000	0.43333	1.730000	0.28322	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.2731:0.7269:0.0:0.0	12.777	0.56834	640	0.64132	Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, 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	965.49	33	chr1	43317671	.	C	G	965.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.06;DP=279;ExcessHet=0;FS=2.78;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.49;ReadPosRankSum=-0.298;SOR=0.454	GT:AD:DP:GQ:PL	0/1:50,42:92:99:976,0,1162	6	0	1	0
chr1	46285538	46285538	A	G	exonic	LRRC41	.	nonsynonymous SNV	LRRC41:NM_006369:exon4:c.T1319C:p.L440S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.0123077673918	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1412277909	6.842e-07	6.84e-07	1.361e-06	0	2.519e-05	0	0	.	.	0	0	0	2.519e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.52	0.07259	T	0.73	0.07468	T	0.962	0.55554	D	0.528	0.48482	P	0.197068	0.16696	N	0.537266	0.972336	0.25606	N	0	0.06538	N	0.89	0.45636	T	0.49	0.02993	N	0.325	0.59648	-1.0929	0.05066	T	0.082	0.32382	T	10	0.15626138	0.29432	T	0.012308	0.30768	T	0.059	0.16972	0.384	0.40298	0.239312915715	0.23560	0.3347807057781856	0.33391	1.63047291344	0.89215	0.537700176239	0.44120	T	0.00131	0.01528	T	-0.180267	0.23697	T	-0.496718	0.22688	T	0.321783341970189	0.25894	T	0.756924	0.38041	T	0.051166013	0.09357	0.05172133	0.08379	0.051166013	0.09357	0.05172133	0.08378	-2.855	0.08701	T	.	.	0.112	0.36275	B	.;.;.;.	.;.;.;.	2.669429	0.34795	19.73	0.83858660867530666	0.14959	0.77123	0.37886	D	AEFDBCI	0.140376	0.26226	N	-0.0121775801791171	0.41305	2.468189	0.00515322625413577	0.39955	2.376857	0.999993516551014	0.74766	0.722319	0.85440	0	0.702456	0.74545	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	4.86	2.44	0.28875	0.948000	0.28694	6.007000	0.52582	0.756000	0.94297	0.974000	0.34632	1.000000	0.68203	0.997000	0.79791	0.6544:0.2626:0.083:0.0	6.744	0.22638	101	0.95833	.;.;.;.	.	.	.	.	.	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	2324.44	33	chr1	46285538	.	A	G	2324.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.728;DP=414;ExcessHet=0;FS=1.025;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.29;ReadPosRankSum=-1.151;SOR=0.615	GT:AD:DP:GQ:PL	0/1:121,105:226:99:2335,0,2923	6	0	1	0
chr1	46568486	46568486	C	T	exonic	MKNK1	.	nonsynonymous SNV	MKNK1:NM_001377343:exon7:c.G341A:p.R114H,MKNK1:NM_001135553:exon8:c.G470A:p.R157H,MKNK1:NM_001377373:exon8:c.G470A:p.R157H,MKNK1:NM_001377374:exon8:c.G470A:p.R157H,MKNK1:NM_001377375:exon8:c.G470A:p.R157H,MKNK1:NM_198973:exon8:c.G470A:p.R157H,MKNK1:NM_001377337:exon9:c.G488A:p.R163H,MKNK1:NM_001377338:exon9:c.G488A:p.R163H,MKNK1:NM_001377341:exon9:c.G488A:p.R163H,MKNK1:NM_001377342:exon9:c.G488A:p.R163H,MKNK1:NM_003684:exon9:c.G593A:p.R198H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.538	0.148458487313	.	.	1.651e-05	0	8.663e-05	0	0	0	0	6.066e-05	1.29e-05	2	154602	rs771500308	5.473e-06	5.472e-06	2.723e-06	8.251e-06	4.473e-05	2.35e-06	1.7e-06	7.41e-06	2.77e-06	2.987e-05	4.473e-05	0	0	0	0	3.597e-06	0	1.16e-05	6.573e-06	6.568e-06	0	1.346e-05	6.548e-05	0	0	.	.	0	0	6.548e-05	0	0	0	0	0	0	0	.	.	.	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	2.545	0.74286	M	.	.	.	.	.	.	0.975	0.98563	0.299	0.87544	D	0.558	0.83873	D	10	0.97530854	0.97275	D	0.148458	0.83038	D	0.538	0.80664	0.959	0.99568	0.880332836429	0.87915	0.5300985237643849	0.52933	1.0531444316	0.76231	0.905078530312	0.96984	D	0.59722	0.87038	D	0.116785	0.66048	D	0.0306069	0.72317	D	0.99152946472168	0.81831	D	0.994161	0.99003	D	0.9130752	0.92583	0.87043995	0.92896	0.9130752	0.92584	0.87043995	0.92896	-10.881	0.81658	D	.	.	0.977	0.93663	P	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	5.767762	0.93463	33	0.99926602018630173	0.99103	0.99703	0.98807	D	AEFDBIJ	0.931076	0.91935	D	1.08640517986412	0.97873	16.93911	1.02585705407354	0.99067	20.51844	0.999999999999997	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	6.17	6.17	0.99707	7.514000	0.80644	7.658000	0.64072	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	19.868	0.96822	106	0.95650	Protein kinase domain|Protein kinase domain|Protein kinase domain;.;.;Protein kinase domain|Protein kinase domain|Protein kinase 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	1658.45	34	chr1	46568486	.	C	T	1658.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.18;DP=291;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.55;ReadPosRankSum=0.017;SOR=0.676	GT:AD:DP:GQ:PL	0/1:45,69:114:99:1669,0,874	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|1:127,32:159:18:0|1:46613214_G_C:18,0,3057:46613214	0	0	4	3
chr1	46673263	46673263	C	T	exonic	TEX38	.	nonsynonymous SNV	TEX38:NM_001145474:exon2:c.C428T:p.S143F,TEX38:NM_001300863:exon2:c.C266T:p.S89F,TEX38:NM_001300864:exon2:c.C200T:p.S67F	.	428	1023	66	5	0	76	0.0358153	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0050	0.00798722	0.0150	0.0014	0.0130	0	0.0185	0.0115	0.0122	0.0235	0.0030271	468	154602	rs139847766	0.0068	0.0065	0.0061	0.0074	0.0228	0.0066	0.0066	0.0219	0.0215	0.0009	0.0025	0.0170	8.394e-05	0.0214	0.0183	0.0051	0.0075	0.0228	0.0069	0.0069	0.0058	0.0081	0.0251	0.0065	0.0064	0.0214	0.0201	0.0010	0	0.0025	0.0159	0	0.0263	0.0204	0.0073	0.0052	0.0251	0.002	0.91255	D	0.004	0.74150	D	0.019	0.17989	B	0.022	0.19653	B	.	.	.	.	0.999999	0.08975	N	1.7	0.43825	L	-1.05	0.76690	T	-3.38	0.78135	D	0.059	0.08646	.	.	.	.	.	.	.	0.003181696	0.00053	T	.	.	.	.	.	.	.	.	.	0.3266098415028297	0.32573	.	.	0.371366500854	0.21029	T	0.049521	0.32485	T	-0.408703	0.02028	T	-0.341597	0.40164	T	.	.	.	0.553645	0.19140	T	0.24107373	0.47018	0.2824542	0.54233	0.24107373	0.47018	0.2824542	0.54232	-4.009	0.23938	T	.	.	0.137	0.30211	B	.;.;.	.;.;.	2.704225	0.35333	19.87	0.99672898469081317	0.78717	0.08995	0.14837	N	AEFDBCI	0.084133	0.17050	N	.	.	.	.	.	.	0.984711121805387	0.30763	0.498214	0.20090	0	0.379588	0.06130	0	0.514364	0.09456	0	0.711	0.71501	0	.	.	4.87	2.91	0.32903	0.783000	0.26463	1.811000	0.28962	0.524000	0.24156	0.003000	0.16062	0.092000	0.22550	0.618000	0.31844	0.1893:0.7116:0.0:0.0992	5.869	0.18039	186	0.92733	.;.;.	.	.	.	.	rs139847766	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	0.017717	0.005263	0.021552	0.028689	0.000000	0.000000	0.010101	0.028302	0.07143	2664.44	34	chr1	46673263	.	C	T	2664.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.273;DP=427;ExcessHet=0;FS=3.939;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.69;ReadPosRankSum=0.408;SOR=0.982	GT:AD:DP:GQ:PL	0/1:103,107:210:99:2675,0,2702	6	0	1	0
chr1	52359041	52359041	C	A	exonic	CC2D1B	.	stopgain	CC2D1B:NM_001330585:exon11:c.G1243T:p.E415X,CC2D1B:NM_032449:exon11:c.G1243T:p.E415X	.	409	1112	1	0	0	1	0.000449438	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.159	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.5e-06	6.156e-06	9.581e-06	1.381e-06	7.195e-06	2.37e-06	1.71e-06	3.1e-06	2.24e-06	0	0	0	0	0	0	7.195e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011228	0.29610	N	0.342571	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.084	0.08227	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.518762	0.94859	D	0.507389	0.94782	D	0.99469405412674	0.86141	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.	High;.	8.586824	0.97753	38	0.99408674424010046	0.63169	0.96247	0.68213	D	AEFDBCI	0.056507	0.10453	N	0.949392333479898	0.93961	12.400	0.760621015944731	0.86949	9.056041	0.810274790696877	0.24342	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	4.56	4.56	0.55644	4.284000	0.58776	5.959000	0.51789	0.587000	0.30956	0.999000	0.42656	1.000000	0.68203	0.908000	0.44358	0.0:1.0:0.0:0.0	16.256	0.82344	355	0.85216	Domain of unknown function DM14;.	.	.	.	.	.	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	550.53	19	chr1	52359041	.	C	A	550.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.805;DP=202;ExcessHet=0;FS=1.109;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.24;ReadPosRankSum=-0.261;SOR=0.527	GT:AD:DP:GQ:PL	0/1:26,23:49:99:561,0,728	6	0	1	0
chr1	53327839	53327839	T	0	exonic	LRP8	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	2609.59	12	chr1	53327839	.	T	*	2609.59	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1;DP=148;ExcessHet=0.4139;FS=3.485;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=21.22;ReadPosRankSum=-0.091;SOR=1.168	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,2:25:9:1|0:53327838_CTG_C:933,699,951:53327838	4	0	2	1
chr1	56912580	56912580	C	T	exonic	C8A	.	nonsynonymous SNV	C8A:NM_000562:exon10:c.C1558T:p.R520C	C8 deficiency, type I, Autosomal recessive	2	1517	3	0	0	3	0.000987817	.	.	.	1040231	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.292	0.0918032573933	0.0002	.	0.0003	0.0002	0	0.0001	0	0.0003	0	0.0007	0.0003169	49	154602	rs202001060	0.0004	0.0004	0.0004	0.0004	0.0014	0.0003	0.0003	0.0007	0.0007	2.987e-05	0.0002	0.0001	0.0001	0	0.0014	0.0004	0.0005	0.0009	0.0002	0.0002	0.0003	0.0002	0.0006	0.0002	0.0001	0.0003	0.0002	0.0001	0	0	0.0003	0	0	0	0.0004	0.0005	0.0006	0.032	0.44694	D	0.028	0.54934	D	0.959	0.55135	D	0.443	0.45803	B	0.028892	0.25534	N	0.468807	0.999012	0.21709	N	1.65	0.42232	L	-2.28	0.87512	D	-2.17	0.49018	N	0.304	0.34336	-0.4635	0.69951	T	0.430	0.77225	T	10	0.14361897	0.27265	T	0.091803	0.75773	D	0.292	0.61157	.	.	0.852914925006	0.85150	0.637094173467056	0.63643	0.141135838757	0.15921	0.2456253618	0.03321	T	0.230048	0.59602	T	-0.323334	0.06629	T	-0.319007	0.42685	T	0.0860010012984276	0.10736	T	0.858314	0.54891	D	0.13217187	0.30785	0.06880824	0.14417	0.13217187	0.30785	0.06880824	0.14417	-10.871	0.78945	D	.	.	0.281	0.51385	B	.	.	2.378760	0.30534	18.47	0.99751133009494886	0.84305	0.10569	0.16039	N	AEFBI	0.748261	0.69007	D	-0.376941126084998	0.26292	1.433857	-0.484835093812651	0.22571	1.226573	0.991454394231716	0.32494	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.51	1.19	0.20120	1.332000	0.33410	0.894000	0.22496	0.599000	0.40250	0.011000	0.18532	0.016000	0.20520	0.605000	0.31514	0.4286:0.4186:0.1528:0.0	8.641	0.33138	880	0.29376	.	.	.	.	.	.	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	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	1125.45	33	chr1	56912580	.	C	T	1125.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.28;DP=300;ExcessHet=0;FS=4.685;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.54;ReadPosRankSum=-2.526;SOR=1.149	GT:AD:DP:GQ:PL	0/1:70,48:118:99:1136,0,1558	6	0	1	0
chr1	64267089	64267089	G	A	exonic	UBE2U	.	nonsynonymous SNV	UBE2U:NM_001366234:exon8:c.G697A:p.E233K,UBE2U:NM_001366232:exon10:c.G835A:p.E279K,UBE2U:NM_001366233:exon10:c.G832A:p.E278K	.	430	1088	4	0	0	4	0.00183486	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	.	.	.	6.016e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs758699141	4.935e-05	4.72e-05	4.516e-05	5.366e-05	0.0003	3.966e-05	3.634e-05	0.0002	0.0001	0	0	0.0011	0	0	0	1.483e-05	0.0001	0.0003	5.26e-05	5.254e-05	1.285e-05	9.422e-05	0.0002	2.558e-05	1.831e-05	.	.	0	0	0	0.0012	0.0002	0	0.0032	1.47e-05	0	0.0002	.	.	.	0.344	0.18903	T	.	.	.	.	.	.	0.696775	0.06179	U	1.243120	1	0.08975	N	0.805	0.20218	L	.	.	.	.	.	.	0.128	0.12198	-0.8548	0.51634	T	0.172	0.51405	T	7	0.053989112	0.05677	T	.	.	.	.	.	.	.	0.486209434461	0.48252	.	.	.	.	.	.	.	0.023067	0.17673	T	-0.418801	0.01741	T	-0.570056	0.15444	T	0.0341078842913104	0.02657	T	0.579642	0.20943	T	0.040731356	0.05870	0.04677277	0.06594	0.040731356	0.05869	0.04677277	0.06594	-5.97	0.46028	T	.	.	0.074	0.11317	B	.;.	.;.	0.958007	0.13342	9.848	0.11503673480002354	0.00175	0.11122	0.16422	N	AEFBHCI	0.101821	0.20440	N	-0.379073118717719	0.26215	1.42908	-0.505210659665269	0.22010	1.193483	1.93766004231453E-4	0.05898	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.52	3.58	0.40133	1.529000	0.35602	-0.200000	0.10954	0.676000	0.76740	0.038000	0.20882	0.000000	0.08366	0.004000	0.06068	0.1218:0.0:0.8782:0.0	7.950	0.29172	951	0.11083	.;.	.	.	.	.	.	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	477.27	20	chr1	64267089	.	G	A	477.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.47;DP=182;ExcessHet=0;FS=1.061;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.68;ReadPosRankSum=-1.904;SOR=0.454	GT:AD:DP:GQ:PL	0/1:32,23:55:99:487,0,765	5	0	1	1
chr1	77935995	77935995	G	A	exonic	NEXN	.	nonsynonymous SNV	NEXN:NM_001172309:exon10:c.G1232A:p.R411K,NEXN:NM_144573:exon11:c.G1424A:p.R475K	Cardiomyopathy, dilated, 1CC, Autosomal dominant;Cardiomyopathy, hypertrophic, 20, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.00665660799398	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.368e-06	1.362e-06	1.376e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.538	0.06847	T	0.764	0.04571	T	0.091	0.25247	B	0.016	0.17743	B	0.000023	0.55875	D	0.000000	0.606987	0.32587	D	0.975	0.24501	L	0.33	0.58323	T	0.77	0.02558	N	0.142	0.18103	-1.0525	0.13709	T	0.041	0.17488	T	10	0.12635311	0.24020	T	0.006657	0.17585	T	0.094	0.27141	0.272	0.22210	0.520586239559	0.51704	0.08362847643912337	0.08296	0.0483182337376	0.05281	0.503688514233	0.39341	T	0.007706	0.07099	T	-0.128727	0.31703	T	-0.422684	0.30769	T	0.675288915634155	0.39574	D	0.80142	0.44736	T	0.070407756	0.15505	0.08730277	0.20284	0.070407756	0.15505	0.08730277	0.20284	-3.317	0.14523	T	0.06871425045942398	0.02517	0.166	0.36554	B	.;.	.;.	2.462804	0.31732	18.83	0.92583887767275952	0.22042	0.94464	0.61249	D	AEFBI	0.704557	0.66024	D	-0.142333935333806	0.35562	2.044219	0.133413881396926	0.46268	2.875634	0.998533369466999	0.37148	0.706298	0.61202	0	0.709663	0.81188	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	6.03	6.03	0.97798	6.641000	0.74179	8.621000	0.77811	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0699:0.0:0.9301:0.0	13.716	0.62178	725	0.54935	.;.	.	.	.	.	.	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	55.48	11	chr1	77935995	.	G	A	55.48	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.368;DP=108;ExcessHet=0;FS=22.368;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=2.05;ReadPosRankSum=0;SOR=4.164	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:20,7:27:65:0|1:77935995_G_A:65,0,638:77935995	5	0	1	1
chr1	85158757	85158757	C	G	exonic	SYDE2	.	nonsynonymous SNV	SYDE2:NM_032184:exon7:c.G3578C:p.S1193T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.00707251258688	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.064	0.44905	T	0.132	0.27209	B	0.031	0.21939	B	0.000003	0.62929	D	0.141141	0.856995	0.28413	N	2.89	0.83701	M	3.03	0.08898	T	-1.07	0.27876	N	0.197	0.21710	-1.0013	0.29545	T	0.008	0.02926	T	10	0.10845104	0.20189	T	0.007073	0.18731	T	0.060	0.17295	0.133	0.03747	0.115124310173	0.11017	0.1666088604543345	0.16580	0.261245587848	0.28675	0.516227483749	0.41095	T	0.015102	0.12732	T	-0.18471	0.23038	T	-0.503099	0.22027	T	0.930839061737061	0.59580	D	0.288071	0.05188	T	0.4173487	0.61915	0.2945027	0.55481	0.4173487	0.61916	0.2945027	0.55480	-4.469	0.30481	T	.	.	0.083	0.09094	B	.	.	1.981754	0.25175	16.67	0.98157459387076473	0.38747	0.94396	0.61032	D	AEFGBI	0.405519	0.47837	N	-0.0772867669948402	0.38391	2.247741	0.106188889006462	0.44865	2.760029	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	.	.	.	.	.	.	.	.	0.4167	580.22	31	chr1	85158757	.	C	G	580.22	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-0.575;DP=313;ExcessHet=11.5949;FS=185.984;MLEAC=5;MLEAF=0.417;MQ=60;MQRankSum=0;QD=2.13;ReadPosRankSum=0.994;SOR=8.739	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:37,11:50:99:.:.:132,0,1066:.	1	0	5	1
chr1	89384167	89384167	C	T	exonic	GBP6	.	stopgain	GBP6:NM_001320257:exon8:c.C1153T:p.Q385X,GBP6:NM_198460:exon10:c.C1543T:p.Q515X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.278e-06	0	0	0	0	1.504e-05	0	0	6.5e-06	1	154602	rs758923564	6.841e-07	6.841e-07	0	1.375e-06	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008936	0.01224	N	2.991740	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.065	0.03726	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0806481	0.62116	D	-0.106445	0.62893	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant	High	4.435583	0.68827	25.3	0.92633165792846084	0.22105	0.00976	0.03727	N	AEFBI	0.026896	0.02103	N	-0.710951026115001	0.15713	0.7943107	-1.16613655634035	0.06483	0.3122076	0.999774283534833	0.42865	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.19	-10.4	0.00257	-2.125000	0.01404	-20.000000	0.00162	-0.947000	0.02050	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.4041:0.2379:0.358:0.0	10.245	0.42512	669	0.61081	Guanylate-binding protein/Atlastin, C-terminal|Guanylate-binding protein, C-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	1433.45	35	chr1	89384167	.	C	T	1433.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.72;DP=325;ExcessHet=0;FS=1.567;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.65;ReadPosRankSum=0.144;SOR=0.883	GT:AD:DP:GQ:PL	0/1:51,54:105:99:1444,0,1143	6	0	1	0
chr1	94077833	94077833	C	T	exonic	ABCA4	.	nonsynonymous SNV	ABCA4:NM_000350:exon11:c.G1411A:p.E471K	Cone-rod dystrophy 3;Fundus flavimaculatus, Autosomal recessive;Retinal dystrophy, early-onset severe, Autosomal recessive;Retinitis pigmentosa 19;Stargardt disease 1, Autosomal recessive	1	1517	4	0	0	4	0.00131666	.	.	YES	104942	not_provided|not_specified|Stargardt_disease|Age_related_macular_degeneration_2|Retinal_dystrophy|Inborn_genetic_diseases|ABCA4-related_disorder|Severe_early-childhood-onset_retinal_dystrophy	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0019353,MedGen:C0271093,Orphanet:827|MONDO:MONDO:0007932,MedGen:C3495438,OMIM:153800|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|MeSH:D030342,MedGen:C0950123|MedGen:CN239167|MONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200,Orphanet:364055,Orphanet:827	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.491	0.217220130875	0.0008	.	0.0009	0	0	0	0.0006	0.0015	0	0.0006	0.000815	126	154602	rs1800548	0.0007	0.0007	0.0007	0.0007	0.0009	0.0007	0.0007	0.0007	0.0006	8.961e-05	6.708e-05	0.0060	0	0.0007	0.0003	0.0006	0.0010	0.0009	0.0009	0.0009	0.0010	0.0008	0.0014	0.0008	0.0007	0.0011	0.0011	2.412e-05	0	0.0003	0.0084	0	0.0003	0	0.0014	0.0005	0.0006	0.917	0.02327	T	0.761	0.04619	T	0.004	0.12183	B	0.007	0.12992	B	0.001067	0.40389	N	0.252125	0.999798	0.49177	D	2.08	0.57402	M	-1.96	0.85091	D	-0.58	0.17417	N	0.796	0.79214	-0.4371	0.70827	T	0.340	0.70592	T	10	0.008672595	0.00196	T	0.21722	0.87598	D	0.491	0.77783	.	.	0.856801206669	0.85542	0.8102918542155326	0.80984	0.104981071389	0.11866	0.287962198257	0.08626	T	0.316653	0.68817	T	-0.127296	0.31933	T	0.0403804	0.72953	D	0.0361554449678289	0.03007	T	0.835916	0.50694	T	0.23064275	0.45823	0.15203673	0.35788	0.2182309	0.44326	0.14346135	0.34092	-5.969	0.46019	T	.	.	0.082	0.08560	B	.;.	.;.	2.746163	0.35986	20.1	0.88396806040854004	0.17944	0.94064	0.60003	D	AEFBI	0.419695	0.48682	N	-0.158588918330669	0.34870	1.995898	0.00268211559618181	0.39840	2.36836	0.999999277561146	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	4.94	4.94	0.64645	0.741000	0.25870	3.842000	0.40046	0.599000	0.40250	0.026000	0.20160	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	18.716	0.91639	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	.	.	.	.	.	.	.	.	0.07143	3353.44	34	chr1	94077833	.	C	T	3353.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.852;DP=428;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.71;ReadPosRankSum=-0.385;SOR=0.714	GT:AD:DP:GQ:PL	0/1:93,135:228:99:3364,0,2176	6	0	1	0
chr1	100168491	100168491	C	T	exonic	LRRC39	.	nonsynonymous SNV	LRRC39:NM_001256387:exon2:c.G26A:p.G9E,LRRC39:NM_001256385:exon3:c.G26A:p.G9E,LRRC39:NM_001256386:exon3:c.G26A:p.G9E,LRRC39:NM_144620:exon3:c.G26A:p.G9E	.	441	1080	1	0	0	1	0.000462749	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.198	0.0195110341708	.	.	3.3e-05	0	0	0	0	0	0	0.0002	2.59e-05	4	154602	rs762205610	1.235e-05	1.231e-05	8.187e-06	1.655e-05	0.0002	7.72e-06	6.37e-06	0.0001	8.759e-05	0	0	0	0	0	0.0002	0	3.318e-05	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.51248	D	0.0	0.92824	D	0.994	0.90584	D	0.817	0.92359	P	0.003355	0.35069	N	0.131286	0.999996	0.58761	D	2.455	0.71248	M	8.17	0.00282	T	-1.62	0.41618	N	0.586	0.64223	0.794	0.94341	D	0.001	0.00287	T	10	0.68269247	0.71375	D	0.019511	0.41891	T	0.198	0.48105	0.577	0.70217	0.675998447366	0.67325	0.6097565768601507	0.60907	0.343176379673	0.36250	0.704313158989	0.67767	T	0.131997	0.46182	T	-0.233907	0.16135	T	-0.294333	0.45320	T	0.609702527523041	0.36788	D	0.80142	0.44736	T	0.23111828	0.45878	0.29924244	0.55958	0.23111828	0.45878	0.29924244	0.55957	-2.261	0.04522	T	.	.	0.307	0.54754	B	.;.;.;.	.;.;.;.	4.279300	0.65178	24.8	0.99774086589227418	0.86174	0.93594	0.58645	D	AEFI	0.637603	0.61632	D	0.589100506216965	0.72493	5.814574	0.622652228840572	0.76589	6.518853	0.995733115446836	0.34294	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	5.74	5.74	0.90070	5.351000	0.65790	5.948000	0.51598	0.599000	0.40250	0.983000	0.35670	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	17.707	0.88217	582	0.69555	.;.;.;.	.	.	.	.	.	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	1129.44	33	chr1	100168491	.	C	T	1129.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.692;DP=288;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.66;ReadPosRankSum=1.34;SOR=0.693	GT:AD:DP:GQ:PL	0/1:50,56:106:99:1140,0,1074	6	0	1	0
chr1	109194458	109194458	G	A	exonic	ELAPOR1	.	nonsynonymous SNV	ELAPOR1:NM_001284353:exon8:c.G971A:p.R324H,ELAPOR1:NM_001267048:exon13:c.G1724A:p.R575H,ELAPOR1:NM_001284352:exon14:c.G1679A:p.R560H,ELAPOR1:NM_020775:exon15:c.G1985A:p.R662H	.	408	1111	3	0	0	3	0.00134831	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.0102094717447	.	.	2.471e-05	0	0	0	0	0	0	0.0002	3.23e-05	5	154602	rs768245171	5.474e-05	5.473e-05	3.676e-05	7.289e-05	0.0004	4.478e-05	4.148e-05	0.0003	0.0002	0	8.944e-05	0	0	1.873e-05	0	3.688e-05	4.968e-05	0.0004	6.575e-05	6.568e-05	6.426e-05	6.731e-05	0.0006	3.519e-05	2.618e-05	0.0002	8.985e-05	2.415e-05	0	6.547e-05	0	0	0	0	7.351e-05	0	0.0006	0.58	0.06223	T	0.59	0.08217	T	0.584	0.45366	P	0.241	0.41006	B	0.022178	0.26687	N	0.403992	1	0.08975	N	0.06	0.08197	N	2.77	0.13795	T	1.03	0.01350	N	0.1	0.08227	-0.9997	0.30002	T	0.004	0.01159	T	10	0.03201759	0.01346	T	0.010209	0.26478	T	0.061	0.17616	0.438	0.49157	0.173771789658	0.16945	0.3252068622827423	0.32433	0.361551916718	0.37809	0.212208271027	0.00909	T	0.009828	0.08919	T	-0.491432	0.00638	T	-0.627529	0.10602	T	0.0377370507034824	0.03285	T	0.738026	0.36682	T	0.02104744	0.00688	0.028921967	0.01176	0.02104744	0.00688	0.028921967	0.01176	-2.979	0.09956	T	.	.	0.073	0.06341	B	.;.;.	.;.;.	0.992446	0.13703	10.25	0.61125385923847242	0.06631	0.14425	0.18396	N	AEFDGBIJ	0.278885	0.39306	N	-0.698663239571345	0.16059	0.8149162	-0.650058393326532	0.18215	0.9720795	0.999999168739863	0.74766	0.656854	0.48797	0	0.547309	0.14657	0	0.67347	0.61138	0	0.600164	0.37192	1	.	.	5.68	3.58	0.40133	0.805000	0.26772	1.331000	0.25669	0.618000	0.50648	0.000000	0.06391	0.002000	0.18203	0.699000	0.34110	0.0:0.108:0.3138:0.5782	6.194	0.19752	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	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	1356.44	82	chr1	109194458	.	G	A	1356.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.06;DP=680;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.87;ReadPosRankSum=0.063;SOR=0.703	GT:AD:DP:GQ:PL	0/1:92,61:153:99:1367,0,2036	6	0	1	0
chr1	109508616	109508616	G	C	exonic	AMIGO1	.	nonsynonymous SNV	AMIGO1:NM_020703:exon2:c.C297G:p.N99K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.00471979587979	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.402e-05	0.0008	2.459e-05	2.345e-05	0.0002	1.744e-05	1.544e-05	2.006e-05	1.747e-05	5.989e-05	0	0	0	0	0.0002	2.799e-05	1.66e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.50676	D	0.096	0.39340	T	0.375	0.34209	B	0.25	0.39011	B	0.023848	0.26367	N	0.283710	0.989351	0.40936	D	-0.805	0.01590	N	4.38	0.02255	T	-0.42	0.14193	N	0.251	0.32481	-0.9074	0.47168	T	0.002	0.00526	T	10	0.13895068	0.26423	T	0.00472	0.11753	T	0.048	0.13305	0.424	0.46857	0.303871581278	0.30001	0.3848348631254194	0.38398	1.20472787136	0.80666	0.608450233936	0.54097	T	0.010575	0.09538	T	-0.290714	0.09565	T	-0.655367	0.08582	T	0.544324159622192	0.34265	D	0.79742	0.44137	T	0.08433104	0.19514	0.09508742	0.22536	0.08433104	0.19513	0.09508742	0.22536	-4.691	0.33295	T	.	.	0.266	0.50527	B	.;.	.;.	1.875938	0.23830	16.17	0.98865697297219557	0.47545	0.82763	0.41947	D	AEFBCI	0.391245	0.46976	N	-0.506877925592794	0.21857	1.163021	-0.39326206815582	0.25196	1.384239	0.905472008325259	0.26205	0.676563	0.55306	0	0.610034	0.51514	0	0.673471	0.61138	0	0.579976	0.35079	0	.	.	4.99	1.09	0.19517	1.118000	0.30860	3.404000	0.38147	0.676000	0.76740	0.809000	0.29839	1.000000	0.68203	1.000000	0.97212	0.304:0.0:0.696:0.0	9.065	0.35621	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	.	.	.	.	.	.	.	.	0.3	930.75	58	chr1	109508616	.	G	C	930.75	.	AC=3;AF=0.3;AN=10;BaseQRankSum=-1.655;DP=441;ExcessHet=1.383;FS=300.261;MLEAC=3;MLEAF=0.3;MQ=60;MQRankSum=0;QD=3.62;ReadPosRankSum=-0.012;SOR=8.497	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:68,48:116:99:0|1:109508616_G_C:652,0,1525:109508616	2	0	3	2
chr1	109508617	109508617	T	C	exonic	AMIGO1	.	nonsynonymous SNV	AMIGO1:NM_020703:exon2:c.A296G:p.N99S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.152	0.00377047473703	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.055e-06	0.0002	2.726e-06	1.377e-06	2.702e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.702e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.798	0.03134	T	1.0	0.01155	T	0.001	0.07471	B	0.005	0.11217	B	0.023848	0.26367	N	0.283710	0.744098	0.29705	N	-1.225	0.00812	N	4.52	0.01997	T	0.92	0.01573	N	0.044	0.04072	-0.9142	0.46325	T	0.001	0.00318	T	10	0.027937263	0.00931	T	0.00377	0.08775	T	0.152	0.39956	0.237	0.16760	0.21174354426	0.20776	0.18114392568070153	0.18033	0.765883629124	0.64500	0.483428955078	0.36529	T	0.005866	0.05316	T	-0.395562	0.02475	T	-0.805974	0.01758	T	0.0602567331267085	0.07209	T	0.826617	0.49005	T	0.038544018	0.05153	0.047732275	0.06941	0.038544018	0.05153	0.047732275	0.06940	-0.373	0.00511	T	.	.	0.064	0.01884	B	.;.	.;.	1.840698	0.23383	16.00	0.57174240635056761	0.05711	0.18455	0.20267	N	AEFBCI	0.212306	0.33801	N	-0.740697034335553	0.14888	0.7454824	-0.519573181039383	0.21622	1.170563	0.989457814758624	0.31831	0.676563	0.55306	0	0.610034	0.51514	0	0.673471	0.61138	0	0.579976	0.35079	0	.	.	4.99	4.99	0.65942	-0.133000	0.10430	2.868000	0.35247	0.665000	0.62972	0.001000	0.13787	1.000000	0.68203	1.000000	0.97212	0.0:0.0899:0.1832:0.7269	5.179	0.14477	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	.	.	.	.	.	.	.	.	0.25	284.78	59	chr1	109508617	.	T	C	284.78	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-2.04;DP=370;ExcessHet=1.383;FS=185.939;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=1.08;ReadPosRankSum=0.414;SOR=7.824	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:94,28:122:12:0|1:109508616_G_C:12,0,2535:109508616	3	0	3	1
chr1	110341408	110341408	C	T	exonic	RBM15	.	nonsynonymous SNV	RBM15:NM_001201545:exon1:c.C2003T:p.A668V,RBM15:NM_022768:exon1:c.C2003T:p.A668V	Megakaryoblastic leukemia, acute	422	1039	57	4	0	65	0.0303313	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	.	0.0048	0.00559105	0.0061	0.0010	0.0040	0	0.0030	0.0067	0.0077	0.0129	0.0059572	921	154602	rs150900331	0.0060	0.0060	0.0056	0.0064	0.0229	0.0059	0.0058	0.0197	0.0185	0.0011	0.0042	0.0147	0	0.0034	0.0229	0.0056	0.0073	0.0127	0.0051	0.0051	0.0049	0.0052	0.0137	0.0048	0.0046	0.0110	0.0101	0.0009	0.0033	0.0054	0.0124	0.0002	0.0031	0.0238	0.0071	0.0076	0.0137	0.117	0.28271	T	0.312	0.19599	T	0.0	0.02946	B	0.0	0.01387	B	0.494839	0.12016	N	0.710757	1	0.08975	N	0.345	0.11182	N	2.2	0.18570	T	-1.7	0.40468	N	0.055	0.03175	-0.9287	0.44328	T	0.009	0.03227	T	10	0.0030899048	0.00051	T	.	.	.	0.027	0.05988	.	.	0.117191471859	0.11215	0.2182879860972043	0.21744	0.713490700197	0.61819	0.405892670155	0.25888	T	0.297953	0.67053	T	-0.665341	0.00058	T	-0.717462	0.04919	T	0.00200101687308719	0.00021	T	0.679332	0.28809	T	0.04694136	0.07941	0.08194425	0.18665	0.04694136	0.07941	0.08194425	0.18664	-4.584	0.32322	T	.	.	0.073	0.08272	B	.;.;.;.;.	.;.;.;.;.	1.796698	0.22840	15.78	0.95988238114539981	0.28380	0.33658	0.24881	N	ALL	0.181846	0.30916	N	-1.0320615013265	0.07945	0.3707962	-0.968512324056755	0.10497	0.529055	0.999999987827702	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.685571	0.62057	0	0.662433	0.64102	0	.	.	4.87	0.956	0.18731	0.682000	0.25015	0.428000	0.18294	-0.182000	0.10109	0.001000	0.13787	0.031000	0.21272	0.986000	0.61781	0.0:0.6211:0.0:0.3789	8.347	0.31441	872	0.31118	.;.;.;.;.	LAMTOR5	Skin_Not_Sun_Exposed_Suprapubic	.	.	.	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	0.022155	0.015152	0.021739	0.008772	0.150000	0.025862	0.024390	0.026515	0.2143	4546.05	106	chr1	110341408	.	C	T	4546.05	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-0.583;DP=526;ExcessHet=1.1394;FS=0;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=11.75;ReadPosRankSum=-0.839;SOR=0.704	GT:AD:DP:GQ:PL	0/1:65,62:127:99:1655,0,1703	4	0	3	0
chr1	112913901	112913901	C	G	exonic	SLC16A1	.	nonsynonymous SNV	SLC16A1:NM_001166496:exon5:c.G1493C:p.S498T,SLC16A1:NM_003051:exon5:c.G1493C:p.S498T	Erythrocyte lactate transporter defect, Autosomal dominant;Hyperinsulinemic hypoglycemia, familial, 7, Autosomal dominant;Monocarboxylate transporter 1 deficiency, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	0.00694427549183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.514e-05	0.0014	1.781e-05	1.244e-05	1.721e-05	9.91e-06	8.47e-06	1.101e-05	8.87e-06	0	0	0	0	0	0	1.721e-05	3.328e-05	1.162e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.406	0.10278	T	0.345	0.17750	T	0.019	0.17989	B	0.006	0.12133	B	0.000194	0.00507	N	3.613670	0.514651	0.31619	N	0.55	0.14455	N	1.89	0.23688	T	0.05	0.06369	N	0.31	0.34981	-0.9605	0.39087	T	0.016	0.06377	T	10	0.06500685	0.08706	T	0.006944	0.18374	T	0.050	0.13987	0.136	0.04008	0.206203607746	0.20212	0.25754088764728017	0.25668	0.358157990037	0.37530	0.395360171795	0.24422	T	0.083635	0.37098	T	-0.185342	0.22944	T	-0.504008	0.21933	T	0.148207157850266	0.16960	T	.	.	.	0.09177888	0.21514	0.055201277	0.09640	0.09177888	0.21514	0.055201277	0.09639	-2.577	0.06330	T	.	.	0.073	0.04558	B	.;.	.;.	1.617359	0.20662	14.85	0.80462772014093309	0.13214	0.95587	0.65318	D	AEFBI	0.400058	0.47510	N	-0.522399086346691	0.21356	1.132814	-0.357056128764837	0.26292	1.451256	0.85627841051563	0.25139	0.722319	0.85440	0	0.724815	0.89359	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	5.94	2.7	0.31007	1.588000	0.36242	0.013000	0.13471	0.599000	0.40250	1.000000	0.71638	0.000000	0.08366	0.972000	0.54974	0.1496:0.6559:0.0:0.1945	6.367	0.20666	822	0.40702	.;.	.	.	.	.	.	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	365.04	53	chr1	112913901	.	C	G	365.04	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-2.662;DP=436;ExcessHet=1.383;FS=118.285;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=1.47;ReadPosRankSum=1.47;SOR=7.522	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:78,16:94:99:0|1:112913900_A_G:161,0,2765:112913900	3	0	3	1
chr1	113590585	113590585	G	A	exonic	MAGI3	.	nonsynonymous SNV	MAGI3:NM_001142782:exon5:c.G865A:p.D289N,MAGI3:NM_152900:exon5:c.G865A:p.D289N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.0151603214366	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.154	0.27783	T	0.104	0.41573	T	0.002	0.60036	B	0.011	0.54779	B	0.000000	0.84330	N	0.090924	0.999986	0.54805	D	1.9	0.50570	L	2.56	0.15261	T	-1.32	0.32991	N	0.181	0.20262	-1.1289	0.01836	T	0.030	0.13111	T	10	0.22006467	0.38693	T	0.01516	0.35730	T	0.118	0.32913	0.223	0.14665	0.263709349026	0.25991	0.43561538745645495	0.43478	0.210437242792	0.23534	0.577588796616	0.49746	T	0.099054	0.40348	T	-0.310918	0.07667	T	-0.684388	0.06720	T	0.807889938354492	0.46898	D	0.831217	0.49813	T	0.20614052	0.42778	0.11951168	0.28846	0.20614052	0.42778	0.11951168	0.28845	-8.674	0.69551	D	.	.	0.190	0.40794	B	.;.;.;.	.;.;.;.	4.061134	0.60272	24.2	0.95624117114733098	0.27396	0.98484	0.83265	D	AEFDI	0.878165	0.80325	D	0.0130293127792656	0.42447	2.55771	0.0819163579536462	0.43640	2.661558	0.788624192413497	0.23975	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.9	4.04	0.46262	6.343000	0.72935	9.883000	0.82214	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.1354:0.0:0.8646:0.0	12.408	0.54785	538	0.73119	.;Guanylate kinase/L-type calcium channel beta subunit;.;.	.	.	.	.	.	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	1267.28	37	chr1	113590585	.	G	A	1267.28	.	AC=2;AF=0.2;AN=10;BaseQRankSum=-3.549;DP=415;ExcessHet=1.1394;FS=333.805;MLEAC=2;MLEAF=0.2;MQ=60;MQRankSum=0;QD=4.14;ReadPosRankSum=2.06;SOR=8.635	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:74,29:103:99:0|1:113590585_G_A:765,0,2935:113590585	3	0	2	2
chr1	113590588	113590588	G	A	exonic	MAGI3	.	nonsynonymous SNV	MAGI3:NM_001142782:exon5:c.G868A:p.E290K,MAGI3:NM_152900:exon5:c.G868A:p.E290K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.413	0.00846044021037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.40319	T	0.293	0.43721	T	0.982	0.60036	D	0.918	0.65394	D	0.000007	0.62929	N	0.142947	0.999997	0.58761	D	2.51	0.73131	M	2.51	0.16794	T	-2.65	0.56787	D	0.433	0.47208	-1.0942	0.04869	T	0.064	0.26597	T	10	0.22067726	0.38771	T	0.00846	0.22382	T	0.413	0.72404	0.48	0.55983	0.244449712813	0.24043	0.47696213348357347	0.47616	0.638098247504	0.57551	0.653341531754	0.60460	T	0.133462	0.46416	T	0.0773476	0.61730	D	-0.126672	0.61251	T	0.983229577541351	0.74971	D	0.952605	0.81930	D	0.3622676	0.58009	0.24027264	0.49397	0.3622676	0.58009	0.24027264	0.49396	-10.586	0.77340	D	.	.	0.310	0.53747	B	.;.;.;.	.;.;.;.	4.747328	0.76619	26.5	0.99690218298802658	0.79909	0.99231	0.93164	D	AEFDI	0.898106	0.84102	D	0.382962876515898	0.60497	4.239429	0.358229968975361	0.59003	4.074818	0.999345317012579	0.39222	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.9	4.98	0.65679	9.560000	0.97249	11.799000	0.96598	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:0.0:0.8675:0.1325	16.441	0.83741	538	0.73119	.;Guanylate kinase/L-type calcium channel beta subunit;.;.	.	.	.	.	.	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	1264.88	35	chr1	113590588	.	G	A	1264.88	.	AC=3;AF=0.3;AN=10;BaseQRankSum=-3.679;DP=424;ExcessHet=1.1394;FS=333.935;MLEAC=4;MLEAF=0.4;MQ=60;MQRankSum=0;QD=4.24;ReadPosRankSum=2.07;SOR=8.635	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:80,29:109:99:0|1:113590585_G_A:747,0,3187:113590585	2	0	3	2
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|1:80,29:109:99:0|1:113590585_G_A:747,0,3187:113590585	1	0	4	2
chr1	113590597	113590597	G	A	exonic	MAGI3	.	nonsynonymous SNV	MAGI3:NM_001142782:exon5:c.G877A:p.E293K,MAGI3:NM_152900:exon5:c.G877A:p.E293K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.344	0.00424447028335	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	0.44358	T	0.033	0.53072	D	0.936	0.55554	P	0.81	0.58608	P	0.000001	0.84330	D	0.098174	0.999979	0.53665	D	1.225	0.30651	L	2.54	0.15843	T	-0.98	0.25986	N	0.582	0.63713	-1.0871	0.06030	T	0.041	0.17615	T	10	0.34597075	0.51560	T	0.004244	0.10247	T	0.344	0.66582	0.499	0.58991	0.0934897674506	0.08844	0.7044464026243406	0.70386	0.614339336528	0.55958	0.594983875751	0.52196	T	0.117834	0.43822	T	-0.074423	0.40618	T	-0.34468	0.39814	T	0.936187207698822	0.60499	D	0.942906	0.81072	D	0.28822857	0.51827	0.23320168	0.48503	0.28822857	0.51827	0.23320168	0.48502	-14.977	0.95798	D	.	.	0.708	0.73276	P	.;.;.;.	.;.;.;.	4.472077	0.69692	25.4	0.9981885909623377	0.90150	0.99231	0.93164	D	AEFDI	0.898106	0.84102	D	0.2454207515239	0.53412	3.510231	0.265188684991688	0.53517	3.520339	0.999345317012579	0.39222	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.9	4.98	0.65679	9.560000	0.97249	11.799000	0.96598	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.8675:0.1325	16.441	0.83741	538	0.73119	.;WW 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	960.06	35	chr1	113590597	.	G	A	960.06	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-3.176;DP=426;ExcessHet=1.1394;FS=288.527;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=3.1;ReadPosRankSum=1.67;SOR=8.379	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:78,29:107:99:0|1:113590585_G_A:753,0,3066:113590585	4	0	3	0
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	0/1:108,45:180:99:.:.:289,0,1319:.	2	0	5	0
chr1	116579647	116579647	-	GTC	exonic	IGSF3	.	nonframeshift insertion	IGSF3:NM_001007237:exon10:c.3078_3079insGAC:p.D1026_P1027insD,IGSF3:NM_001542:exon11:c.3138_3139insGAC:p.D1046_P1047insD	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00139776	0.0006	0.0023	0.0010	0.0008	0	0.0002	0	0.0006	0.0003074	8	26028	rs531457319	0.0004	0.0004	0.0004	0.0003	0.0027	0.0003	0.0003	0.0022	0.0021	0.0027	0.0010	0	0.0004	3.834e-05	0.0014	0.0002	0.0011	0.0008	0.0012	0.0012	0.0012	0.0012	0.0031	0.0011	0.0010	0.0027	0.0025	0.0031	0	0.0015	0	0.0004	0	0	0.0002	0.0014	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1933.41	34	chr1	116579647	.	G	GGTC	1933.41	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.688;DP=309;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=21.72;ReadPosRankSum=0.264;SOR=0.722	GT:AD:DP:GQ:PL	0/1:39,50:89:99:1944,0,1582	6	0	1	0
chr1	117984742	117984742	T	G	exonic	SPAG17	.	nonsynonymous SNV	SPAG17:NM_206996:exon41:c.A5710C:p.K1904Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.0122374072761	.	.	.	.	.	.	.	.	.	.	.	.	.	rs950491933	2.056e-06	2.052e-06	1.364e-06	2.754e-06	5.983e-05	5.5e-07	1.5e-07	9.91e-06	3.71e-06	5.983e-05	0	0	0	0	0	9.008e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.50676	D	0.008	0.67890	D	0.493	0.37004	P	0.155	0.34417	B	0.012698	0.29088	N	0.376195	1	0.08975	N	1.245	0.31408	L	2.06	0.20523	T	-1.82	0.47008	N	0.186	0.20262	-1.0480	0.14960	T	0.016	0.06425	T	10	0.092344046	0.16253	T	0.012237	0.30635	T	0.021	0.04004	0.333	0.32005	0.295623431141	0.29171	0.38269660706223263	0.38184	0.0721561855387	0.08090	0.37390729785	0.21391	T	0.011415	0.10189	T	-0.251471	0.13919	T	-0.598997	0.12895	T	0.203695101384294	0.20618	T	0.428957	0.12198	T	0.17158386	0.37800	0.093175344	0.21994	0.17158386	0.37799	0.093175344	0.21993	-4.005	0.23878	T	0.2552983870255792	0.34520	0.126	0.27463	B	.;.	.;.	1.483728	0.19096	14.09	0.90140675703210604	0.19420	0.11212	0.16483	N	AEFBI	0.065180	0.12699	N	-0.547319808157966	0.20566	1.085199	-0.577686645103664	0.20075	1.079991	8.53896272504599E-5	0.04703	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	6.02	3.53	0.39533	0.905000	0.28127	2.782000	0.34741	0.665000	0.62972	0.040000	0.20979	0.214000	0.23665	0.009000	0.08673	0.0:0.0:0.3047:0.6953	10.733	0.45308	642	0.63909	.;.	.	.	.	.	.	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	557.63	33	chr1	117984742	.	T	G	557.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.93;DP=238;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.71;ReadPosRankSum=0.944;SOR=0.602	GT:AD:DP:GQ:PL	0/1:40,24:64:99:568,0,927	6	0	1	0
chr1	120005380	120005380	G	A	exonic	NOTCH2	.	nonsynonymous SNV	NOTCH2:NM_001200001:exon3:c.C364T:p.H122Y,NOTCH2:NM_024408:exon3:c.C364T:p.H122Y	Alagille syndrome 2, Autosomal dominant;Hajdu-Cheney syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.012667475546	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.45756	D	0.12	0.52389	T	0.86	0.47373	P	0.89	0.63157	P	0.170097	0.17400	U	0.419676	0.850072	0.28509	N	0.7	0.18542	N	0.14	0.60854	T	-1.68	0.40082	N	0.274	0.38335	-0.9200	0.45554	T	0.137	0.45413	T	10	0.27765077	0.45332	T	0.012667	0.31446	T	0.081	0.23632	0.439	0.49321	0.621472958635	0.61840	0.5770514854635852	0.57634	0.943520176759	0.72310	0.398763120174	0.24896	T	0.628008	0.88434	D	-0.0656917	0.42013	T	-0.332138	0.41232	T	0.525653302669525	0.33573	D	0.70223	0.33447	T	0.11151486	0.26353	0.14777727	0.34958	0.11151486	0.26353	0.14777727	0.34957	-7.441	0.57194	T	.	.	0.098	0.38569	B	.;.;.	.;.;.	4.166407	0.62610	24.5	0.99397679118447824	0.62656	0.83165	0.42306	D	AEFBI	0.162128	0.28826	N	0.189161300505492	0.50679	3.25563	0.282105661419061	0.54494	3.614282	0.00134608013175856	0.08462	0.706298	0.61202	0	0.60822	0.50512	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.25	4.3	0.50540	1.307000	0.33121	8.639000	0.77885	0.485000	0.22221	0.945000	0.32849	1.000000	0.68203	0.795000	0.37519	0.0:0.0:0.8362:0.1638	12.710	0.56451	889	0.27310	EGF-like domain|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like domain|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like 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	.	.	.	.	.	.	.	.	0.07143	1771.44	33	chr1	120005380	.	G	A	1771.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.646;DP=346;ExcessHet=0;FS=1.24;MLEAC=1;MLEAF=0.071;MQ=57.68;MQRankSum=-0.679;QD=11.14;ReadPosRankSum=-1.255;SOR=0.596	GT:AD:DP:GQ:PL	0/1:83,76:159:99:1782,0,2238	6	0	1	0
chr1	144437999	144437999	C	T	exonic	NBPF15	.	nonsynonymous SNV	NBPF15:NM_001385417:exon4:c.G224A:p.R75Q,NBPF15:NM_001385448:exon4:c.G224A:p.R75Q,NBPF15:NM_001385405:exon5:c.G224A:p.R75Q,NBPF15:NM_001385447:exon5:c.G224A:p.R75Q,NBPF15:NM_001385410:exon6:c.G224A:p.R75Q,NBPF15:NM_001385413:exon6:c.G224A:p.R75Q,NBPF15:NM_001385416:exon6:c.G224A:p.R75Q,NBPF15:NM_001385432:exon6:c.G224A:p.R75Q,NBPF15:NM_001385438:exon6:c.G224A:p.R75Q,NBPF15:NM_001385446:exon6:c.G224A:p.R75Q,NBPF15:NM_001385407:exon7:c.G224A:p.R75Q,NBPF15:NM_001385418:exon7:c.G224A:p.R75Q,NBPF15:NM_001385424:exon7:c.G224A:p.R75Q,NBPF15:NM_001385427:exon7:c.G224A:p.R75Q,NBPF15:NM_001385439:exon7:c.G224A:p.R75Q,NBPF15:NM_001385440:exon7:c.G224A:p.R75Q,NBPF15:NM_001385443:exon7:c.G224A:p.R75Q,NBPF15:NM_001385445:exon7:c.G224A:p.R75Q,NBPF15:NM_001385376:exon8:c.G224A:p.R75Q,NBPF15:NM_001385377:exon8:c.G224A:p.R75Q,NBPF15:NM_001385403:exon8:c.G224A:p.R75Q,NBPF15:NM_001385404:exon8:c.G224A:p.R75Q,NBPF15:NM_001385409:exon8:c.G224A:p.R75Q,NBPF15:NM_001385411:exon8:c.G224A:p.R75Q,NBPF15:NM_001385414:exon8:c.G224A:p.R75Q,NBPF15:NM_001385441:exon8:c.G224A:p.R75Q,NBPF15:NM_173638:exon8:c.G224A:p.R75Q,NBPF15:NM_001385373:exon9:c.G224A:p.R75Q,NBPF15:NM_001385374:exon9:c.G224A:p.R75Q,NBPF15:NM_001385375:exon9:c.G224A:p.R75Q,NBPF15:NM_001385408:exon9:c.G224A:p.R75Q,NBPF15:NM_001385412:exon9:c.G224A:p.R75Q,NBPF15:NM_001385415:exon9:c.G224A:p.R75Q,NBPF15:NM_001385420:exon9:c.G224A:p.R75Q,NBPF15:NM_001385423:exon9:c.G224A:p.R75Q,NBPF15:NM_001385430:exon9:c.G224A:p.R75Q,NBPF15:NM_001385431:exon9:c.G224A:p.R75Q,NBPF15:NM_001385433:exon9:c.G224A:p.R75Q,NBPF15:NM_001385434:exon9:c.G224A:p.R75Q,NBPF15:NM_001385436:exon9:c.G224A:p.R75Q,NBPF15:NM_001385442:exon9:c.G224A:p.R75Q,NBPF15:NM_001385444:exon9:c.G224A:p.R75Q,NBPF15:NM_001385378:exon10:c.G224A:p.R75Q,NBPF15:NM_001385406:exon10:c.G224A:p.R75Q,NBPF15:NM_001385419:exon10:c.G224A:p.R75Q,NBPF15:NM_001385421:exon10:c.G224A:p.R75Q,NBPF15:NM_001385422:exon10:c.G224A:p.R75Q,NBPF15:NM_001385425:exon10:c.G224A:p.R75Q,NBPF15:NM_001385428:exon10:c.G224A:p.R75Q,NBPF15:NM_001385429:exon10:c.G224A:p.R75Q,NBPF15:NM_001385435:exon10:c.G224A:p.R75Q,NBPF15:NM_001385437:exon10:c.G224A:p.R75Q,NBPF15:NM_001170755:exon11:c.G224A:p.R75Q,NBPF15:NM_001385426:exon11:c.G224A:p.R75Q	.	386	1112	21	0	3	24	0.00935412	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs200795677	0.0042	0.0042	0.0040	0.0044	0.0120	0.0041	0.0041	0.0114	0.0112	0.0006	0.0020	0.0041	7.557e-05	0.0006	0.0076	0.0041	0.0047	0.0120	0.0030	0.0031	0.0031	0.0030	0.0131	0.0028	0.0027	0.0105	0.0096	0.0010	0	0.0023	0.0023	0.0004	0.0006	0.0136	0.0043	0.0057	0.0131	.	.	.	0.432	0.13634	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.15	0.02815	T	.	.	.	0.164	0.17278	.	.	.	.	.	.	.	0.007454425	0.00169	T	.	.	.	.	.	.	.	.	.	0.00852235615899739	0.00816	.	.	.	.	.	0.025104	0.18839	T	.	.	.	.	.	.	.	.	.	0.649135	0.25986	T	.	.	.	.	.	.	.	.	-3.62	0.18147	T	.	.	0.116	0.26576	B	.;.;.	.;.;.	0.374033	0.07463	4.099	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.361000	0.07664	-4.080000	0.02354	-0.973000	0.01932	0.001000	0.13787	0.000000	0.08366	0.002000	0.04165	.	.	.	.	.	.;.;.	.	.	.	.	.	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	2905.44	41	chr1	144437999	.	C	T	2905.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.894;DP=466;ExcessHet=0;FS=0.459;MLEAC=1;MLEAF=0.071;MQ=43.42;MQRankSum=-0.602;QD=11.53;ReadPosRankSum=1.54;SOR=0.751	GT:AD:DP:GQ:PL	0/1:121,131:252:99:2916,0,2586	6	0	1	0
chr1	145673685	145673685	C	T	exonic	PDZK1	.	nonsynonymous SNV	PDZK1:NM_001201326:exon5:c.G854A:p.R285Q,PDZK1:NM_001371361:exon6:c.G566A:p.R189Q,PDZK1:NM_001201325:exon7:c.G1187A:p.R396Q,PDZK1:NM_001371359:exon7:c.G1187A:p.R396Q,PDZK1:NM_002614:exon8:c.G1187A:p.R396Q	.	.	.	.	.	.	.	.	.	.	.	3579315	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.030	0.00386346435616	.	.	.	.	.	.	.	.	.	.	.	.	.	rs587733119	2.406e-05	2.394e-05	2.326e-05	2.487e-05	0.0004	1.747e-05	1.546e-05	0.0003	0.0002	0.0004	0	0	0	0	0	1.354e-05	3.333e-05	4.672e-05	0.0001	0.0001	0.0001	8.305e-05	0.0003	6.659e-05	5.442e-05	0.0002	0.0002	0.0003	0	0	0	0	0	0	2.976e-05	0	0	0.352	0.12226	T	0.276	0.21947	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.76	0.25996	T	-0.1	0.08495	N	0.078	0.05287	.	.	.	.	.	.	.	0.04596281	0.03730	T	.	.	.	.	.	.	.	.	.	0.2650578343511459	0.26418	.	.	.	.	.	0.053473	0.29454	T	.	.	.	.	.	.	.	.	.	0.720928	0.33404	T	.	.	.	.	.	.	.	.	-4.261	0.27627	T	.	.	0.066	0.02458	B	.;.;.	.;.;.	0.861451	0.12337	8.878	.	.	.	.	.	.	0.097336	0.19635	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.124000	0.10571	-7.907000	0.01064	0.304000	0.19002	0.814000	0.29906	0.000000	0.08366	0.989000	0.64315	.	.	.	272	0.89337	.;PDZ domain|PDZ domain|PDZ domain;PDZ domain|PDZ domain|PDZ 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	310.53	20	chr1	145673685	.	C	T	310.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.12;DP=177;ExcessHet=0;FS=1.346;MLEAC=1;MLEAF=0.071;MQ=40.2;MQRankSum=-1.182;QD=7.96;ReadPosRankSum=0.601;SOR=0.984	GT:AD:DP:GQ:PL	0/1:25,14:39:99:321,0,607	6	0	1	0
chr1	148536236	148536236	C	G	exonic	NBPF14	.	nonsynonymous SNV	NBPF14:NM_015383:exon62:c.G7870C:p.V2624L	.	768	752	2	0	0	2	0.00132802	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.000202918164534	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1326015124	7.289e-06	5.884e-05	0	1.39e-05	8.832e-05	1.94e-06	5.4e-07	1.35e-06	5e-07	8.832e-05	0	0	0	0	0	8.091e-06	0	0	5.839e-05	0.0007	6.364e-05	5.26e-05	8.593e-05	2.723e-05	1.857e-05	1.422e-05	6.94e-06	6.14e-05	0	8.593e-05	0.0004	0	0	0	5.359e-05	0	0	.	.	.	0.145	0.33000	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.06454	.	.	.	.	.	.	.	0.07608476	0.11842	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.665133	0.27420	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.342	0.56038	A	.;.	.;.	-0.083278	0.03741	0.775	.	.	.	.	.	.	0.020561	0.00824	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.445000	0.06918	-11.249000	0.00621	0.078000	0.17572	0.982000	0.35529	0.000000	0.08366	0.462000	0.28163	.	.	.	929	0.16858	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	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	54.16	10	chr1	148536236	.	C	G	54.16	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-2.2;DP=77;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.1;MQ=24;MQRankSum=0.862;QD=6.02;ReadPosRankSum=-2.2;SOR=0.132	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:7,2:9:63:0|1:148536236_C_G:63,0,288:148536236	4	0	1	2
chr1	148536239	148536239	C	T	exonic	NBPF14	.	nonsynonymous SNV	NBPF14:NM_015383:exon62:c.G7867A:p.A2623T	.	766	754	2	0	0	2	0.0013245	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.000115807786078	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.089e-06	6.839e-05	0	1.352e-05	8.483e-05	1.89e-06	5.2e-07	1.32e-06	5e-07	8.483e-05	0	0	0	0	0	7.945e-06	0	0	4.78e-05	0.0007	4.566e-05	5.014e-05	8.065e-05	2.016e-05	1.326e-05	1.388e-05	6.85e-06	5.788e-05	0	8.065e-05	0	0	0	0	5.228e-05	0	0	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.187	0.20395	.	.	.	.	.	.	.	0.1079652	0.20077	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.524848	0.17228	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.686	0.72392	P	.;.	.;.	2.158191	0.27497	17.48	.	.	.	.	.	.	0.021844	0.01021	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.524000	0.06309	-5.185000	0.01815	0.078000	0.17572	0.977000	0.34929	0.000000	0.08366	0.451000	0.27917	.	.	.	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	.	.	.	.	.	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	54.16	10	chr1	148536239	.	C	T	54.16	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-2.2;DP=76;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.1;MQ=24;MQRankSum=0.862;QD=6.02;ReadPosRankSum=-2.2;SOR=0.132	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:7,2:9:63:0|1:148536236_C_G:63,0,288:148536236	4	0	1	2
chr1	148559936	148559936	C	A	exonic	NBPF14	.	nonsynonymous SNV	NBPF14:NM_015383:exon32:c.G4079T:p.G1360V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1198993033	7.255e-06	2.03e-05	6.512e-06	7.984e-06	1.315e-05	3.41e-06	2.47e-06	3.68e-06	2.66e-06	0	0	0	0	0	0	8.555e-06	0	1.315e-05	7.279e-06	1.374e-05	1.422e-05	0	1.484e-05	0	0	.	.	0	0	0	0	0	0	0	1.484e-05	0	0	.	.	.	0.121	0.58089	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122	0.11340	.	.	.	.	.	.	.	0.080146044	0.12975	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.950005	0.81652	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.514	0.65207	A	.;.	.;.	-0.176812	0.03212	0.534	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.744000	0.01931	-1.884000	0.04555	-1.283000	0.01266	0.002000	0.15269	0.000000	0.08366	0.001000	0.02609	.	.	.	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	.	.	.	.	.	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	1135.83	32	chr1	148559936	.	C	A	1135.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.981;DP=287;ExcessHet=0;FS=0.714;MLEAC=1;MLEAF=0.071;MQ=59.17;MQRankSum=0.172;QD=10.42;ReadPosRankSum=-0.238;SOR=0.779	GT:AD:DP:GQ:PL	0/1:60,49:109:99:1146,0,1358	6	0	1	0
chr1	148953687	148953687	A	C	exonic	PDE4DIP	.	nonsynonymous SNV	PDE4DIP:NM_001002811:exon1:c.A907C:p.I303L,PDE4DIP:NM_001350520:exon1:c.A907C:p.I303L	.	439	1059	23	0	1	24	0.0107426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.0017778262587	.	.	8.237e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs146001390	0.0078	0.0080	0.0080	0.0077	0.0086	0.0077	0.0077	0.0084	0.0083	0.0012	0.0029	0.0231	2.587e-05	0.0095	0.0085	0.0086	0.0085	0.0022	0.0065	0.0066	0.0068	0.0063	0.0093	0.0062	0.0061	0.0087	0.0084	0.0016	0.0208	0.0038	0.0262	0	0.0106	0.0102	0.0093	0.0071	0.0004	0.53	0.07025	T	0.334	0.18340	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.75	0.11730	T	-0.53	0.16393	N	0.14	0.15609	.	.	.	.	.	.	.	0.008189917	0.00186	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.70293	0.31835	T	.	.	.	.	.	.	.	.	-2.368	0.04940	T	.	.	0.110	0.21877	B	.;.	.;.	1.611311	0.20591	14.82	.	.	.	.	.	.	0.093440	0.18906	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.856000	0.27473	1.536000	0.27193	-0.222000	0.07959	0.482000	0.26816	0.763000	0.26639	0.974000	0.55675	.	.	.	906	0.23090	.;.	.	.	.	.	.	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	375.53	21	chr1	148953687	.	A	C	375.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.85;DP=210;ExcessHet=0;FS=3.1;MLEAC=1;MLEAF=0.071;MQ=32.48;MQRankSum=-0.205;QD=9.39;ReadPosRankSum=-0.525;SOR=0.289	GT:AD:DP:GQ:PL	0/1:24,16:40:99:386,0,681	6	0	1	0
chr1	149075685	149075685	C	A	exonic	NBPF9	.	nonsynonymous SNV	NBPF9:NM_001037675:exon7:c.G958T:p.G320C,NBPF9:NM_001277444:exon7:c.G958T:p.G320C	.	409	361	749	3	0	755	0.511171	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	.	.	.	5.909e-05	0	0	0	0	0	0	0.0004	3.84e-05	1	26028	rs1385733241	9.61e-06	5.749e-05	1.23e-05	6.897e-06	2.519e-05	5.58e-06	4.36e-06	4.56e-06	3.33e-06	0	0	3.836e-05	2.519e-05	0	0	9.021e-06	3.323e-05	0	1.317e-05	3.942e-05	2.575e-05	0	2.946e-05	2.19e-06	8.2e-07	4.89e-06	1.83e-06	0	0	0	0	0	0	0	2.946e-05	0	0	.	.	.	0.365	0.36765	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.196	0.21580	.	.	.	.	.	.	.	0.12383446	0.23512	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.811819	0.46320	T	.	.	.	.	.	.	.	.	-4.7	0.44930	T	.	.	0.071	0.39220	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	0.560151	0.09286	6.069	.	.	.	.	.	.	0.017031	0.00420	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.056000	0.11744	0.032000	0.13746	-1.437000	0.01108	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	.	.	.	889	0.27310	.;.;.;.;.;.;.;.	.	.	.	.	.	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	3098.05	225	chr1	149075685	.	C	A	3098.05	.	AC=3;AF=0.25;AN=12;BaseQRankSum=2.32;DP=2080;ExcessHet=1.1394;FS=6.999;MLEAC=3;MLEAF=0.25;MQ=47.18;MQRankSum=-6.663;QD=2.54;ReadPosRankSum=-2.949;SOR=1.315	GT:AD:DP:GQ:PL	0/1:380,88:468:99:1159,0,9653	3	0	3	1
chr1	149584007	149584007	G	A	exonic	PPIAL4C	.	nonsynonymous SNV	PPIAL4C:NM_001135789:exon1:c.G110A:p.R37H	.	488	1001	29	4	0	37	0.0181462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1209392785	0.0086	0.0090	0.0085	0.0087	0.0145	0.0084	0.0083	0.0106	0.0099	0.0018	0.0070	0.0169	9.422e-05	0.0039	0.0145	0.0103	0.0087	0.0070	0.0070	0.0071	0.0073	0.0067	0.0107	0.0066	0.0065	0.0100	0.0097	0.0014	0.0024	0.0074	0.0143	0.0002	0.0018	0.0231	0.0107	0.0120	0.0050	.	.	.	0.354	0.17268	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.9	0.23486	T	.	.	.	0.218	0.24385	.	.	.	.	.	.	.	0.018166542	0.00393	T	.	.	.	.	.	.	.	0.219573609325	0.21563	0.32605712726361036	0.32518	.	.	0.53084218502	0.43153	T	0.092793	0.39078	T	0.0686114	0.60679	T	-0.139221	0.60185	T	.	.	.	0.234777	0.03226	T	0.046832833	0.07904	0.11937177	0.28813	0.046832833	0.07904	0.11937177	0.28812	-5.919	0.45596	T	.	.	0.111	0.21466	B	.	.	1.028578	0.14083	10.66	0.67423224367540469	0.08350	0.67005	0.33277	D	AEFI	.	.	.	.	.	.	.	.	.	0.00176460587516392	0.08861	0.074636	0.01641	0	0.084543	0.02171	0	0.063197	0.01477	0	0.057018	0.00518	0	0.619667	0.41142	0.386	0.386	0.15477	4.040000	0.57044	-2.912000	0.03237	0.408000	0.20627	1.000000	0.71638	0.000000	0.08366	0.839000	0.39591	2.0E-4:0.0:0.9998:0.0	6.584	0.21804	784	0.47045	Cyclophilin-type peptidyl-prolyl cis-trans isomerase domain|Cyclophilin-type peptidyl-prolyl cis-trans isomerase domain|Cyclophilin-type peptidyl-prolyl cis-trans isomerase 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	839.27	20	chr1	149584007	.	G	A	839.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.63;DP=188;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=26.01;MQRankSum=-2.058;QD=15.84;ReadPosRankSum=1.42;SOR=0.808	GT:AD:DP:GQ:PL	0/1:16,37:53:99:849,0,292	5	0	1	1
chr1	150557014	150557014	C	T	exonic	ADAMTSL4	.	nonsynonymous SNV	ADAMTSL4:NM_001378596:exon11:c.C1825T:p.P609S,ADAMTSL4:NM_019032:exon11:c.C1825T:p.P609S,ADAMTSL4:NM_025008:exon11:c.C1825T:p.P609S,ADAMTSL4:NM_001288608:exon12:c.C1894T:p.P632S	Ectopia lentis et pupillae, Autosomal recessive;Ectopia lentis, isolated, autosomal recessive, Autosomal recessive	1	1520	1	0	0	1	0.000328839	.	.	.	2003772	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.014	0.0127074327568	.	.	8.309e-06	0	0	0	0	1.505e-05	0	0	6.5e-06	1	154602	rs766204338	6.841e-07	6.84e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.78	0.05584	T	0.503	0.28032	T	0.22	0.39849	B	0.039	0.35748	B	.	.	.	.	0.782983	0.34290	D	2.52	0.73523	M	0.12	0.61089	T	-1.09	0.28290	N	0.267	0.38232	-1.0963	0.04569	T	0.054	0.22770	T	9	0.096479505	0.17309	T	0.012707	0.31519	T	0.014	0.01968	0.249	0.18602	0.667668966213	0.66487	0.3686724747565233	0.36781	0.327345842699	0.34869	0.294766128063	0.09623	T	0.014772	0.12515	T	-0.158514	0.26989	T	-0.465471	0.26006	T	0.0847300551072728	0.10581	T	0.791221	0.43226	T	0.025130497	0.01417	0.03477175	0.02605	0.025130497	0.01417	0.03477175	0.02604	-5.439	0.41293	T	0.4089193663638698	0.49954	0.076	0.09385	B	.;.;.;.	.;.;.;.	0.854158	0.12265	8.806	0.76070624548109789	0.11322	0.16776	0.19544	N	AEFDBCI	0.049013	0.08423	N	-0.626190272624711	0.18160	0.9406188	-0.653064122168886	0.18139	0.9676866	0.999999590664772	0.74766	0.651	0.46895	0	0.588066	0.40923	0	0.645312	0.48771	0	0.683762	0.67416	0	.	.	5.05	3.16	0.35406	-0.028000	0.12299	0.497000	0.18957	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.085000	0.17524	0.1924:0.6253:0.0:0.1823	4.368	0.10668	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	.	.	.	.	.	.	.	.	0.08333	1083.27	32	chr1	150557014	.	C	T	1083.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.142;DP=234;ExcessHet=0;FS=0.939;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.7;ReadPosRankSum=1.09;SOR=0.541	GT:AD:DP:GQ:PL	0/1:27,42:69:99:1093,0,643	5	0	1	1
chr1	152221104	152221104	C	G	exonic	HRNR	.	nonsynonymous SNV	HRNR:NM_001009931:exon3:c.G525C:p.Q175H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	0.00309534671196	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.40068	D	0.131	0.34596	T	0.001	0.07471	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	2.165	0.60562	M	4.62	0.01834	T	0.41	0.03407	N	0.098	0.07949	-0.9346	0.43455	T	0.002	0.00497	T	9	0.05947599	0.07156	T	0.003095	0.06696	T	0.083	0.24192	0.271	0.22052	0.203808441222	0.19973	0.050862021312989364	0.05028	.	.	0.385734915733	0.23066	T	0.012941	0.11287	T	-0.383995	0.02939	T	-0.789358	0.02182	T	0.104226213195958	0.12815	T	0.243776	0.03556	T	0.048060205	0.08317	0.07811758	0.17466	0.048060205	0.08317	0.07811758	0.17466	-5.014	0.36992	T	.	.	0.181	0.39391	B	.	.	-0.989858	0.00786	0.025	0.60748097816726221	0.06539	0.00194	0.01121	N	AEFDBI	0.017337	0.00448	N	-1.60927514468013	0.01219	0.05300084	-1.72870184902784	0.01016	0.04556057	0.33400486024781	0.19515	0.553676	0.25195	0	0.547309	0.14657	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	3.85	-7.69	0.01124	-6.411000	0.00083	.	.	-0.418000	0.05239	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.0:0.7176:0.1703:0.1121	14.646	0.68363	570	0.70478	.	.	.	.	.	.	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	2280.44	42	chr1	152221104	.	C	G	2280.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.954;DP=562;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.69;ReadPosRankSum=-1.139;SOR=0.679	GT:AD:DP:GQ:PL	0/1:105,90:195:99:2291,0,2833	6	0	1	0
chr1	152221346	152221346	G	A	exonic	HRNR	.	stopgain	HRNR:NM_001009931:exon3:c.C283T:p.Q95X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1312893145	2.737e-06	2.736e-06	0	5.501e-06	3.597e-06	6.4e-07	4.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.597e-06	0	0	1.315e-05	1.314e-05	2.57e-05	0	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	0.81001	D	.	.	.	.	.	.	.	.	.	0.046	0.01825	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.509519	0.94562	D	0.509598	0.94832	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	7.081245	0.96118	35	0.99625037712986786	0.75655	0.69152	0.34075	D	AEFBI	0.158643	0.28433	N	0.344080271227703	0.58426	4.014952	0.150557455992175	0.47170	2.951391	6.62764350173963E-5	0.04366	0.594549	0.33734	0	0.547309	0.14657	0	0.573888	0.23631	0	0.836244	0.99985	0	.	.	5.11	3.19	0.35720	1.430000	0.34522	.	.	-0.136000	0.12710	1.000000	0.71638	1.000000	0.68203	0.717000	0.34675	0.0:0.0:0.6555:0.3445	10.746	0.45378	570	0.70478	.	.	.	.	.	.	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	1344.46	42	chr1	152221346	.	G	A	1344.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.298;DP=446;ExcessHet=0;FS=0.69;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.3;ReadPosRankSum=1.97;SOR=0.572	GT:AD:DP:GQ:PL	0/1:64,55:119:99:1355,0,1787	6	0	1	0
chr1	152306286	152306286	A	C	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.T8600G:p.I2867S	Ichthyosis vulgaris, Autosomal dominant	1	1398	122	1	0	124	0.0424658	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	.	.	0.0139776	1.664e-05	0	0.0002	0	0	0	0	0	0.0026894	70	26028	rs562496957	0.0004	0.0017	0.0004	0.0004	0.0182	0.0004	0.0004	0.0169	0.0164	0.0182	0.0001	0	5.157e-05	0	0	4.499e-06	0.0002	4.649e-05	0.0001	0.0087	0.0001	0.0001	0.0007	8.399e-05	6.959e-05	0.0002	0.0001	0.0003	0	0.0003	0	0.0007	9.781e-05	0	1.508e-05	0	0	1.0	0.00964	T	.	.	.	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-2.695	0.00033	N	4.44	0.02139	T	1.22	0.01051	N	0.108	0.09349	-0.9320	0.43844	T	0.000	0.00114	T	9	0.005701959	0.00127	T	.	.	.	0.028	0.06331	.	.	0.0666544352282	0.05500	0.03254880392644141	0.03202	.	.	0.232478544116	0.02157	T	0.011277	0.10082	T	-0.338118	0.05519	T	-0.72346	0.04630	T	0.0612642933428966	0.07366	T	0.29767	0.05533	T	0.03513105	0.04077	0.070264496	0.14906	0.03513105	0.04077	0.070264496	0.14905	0.608	0.00192	T	.	.	0.072	0.04316	B	.	.	-0.356046	0.02382	0.263	0.50286818611689099	0.04358	0.00033	0.00296	N	AEFI	0.012106	0.00124	N	-1.93142500550348	0.00296	0.01268816	-1.86376335753537	0.00576	0.0255669	2.65845221984093E-5	0.03498	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	3.09	-2.54	0.05941	-0.796000	0.04680	.	.	-0.434000	0.05191	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.3682:0.2705:0.3613:0.0	5.099	0.14083	561	0.71236	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1429	2784.24	1120	chr1	152306286	.	A	C	2784.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-2.362;DP=6170;ExcessHet=0.3476;FS=0.964;MLEAC=2;MLEAF=0.143;MQ=53.01;MQRankSum=-7.782;QD=1.05;ReadPosRankSum=7.35;SOR=0.681	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1416,125:1541:99:0|1:152306286_A_C:851,0,58257:152306286	5	0	2	0
chr1	152306292	152306292	-	CC	exonic	FLG	.	frameshift insertion	FLG:NM_002016:exon3:c.8593_8594insGG:p.A2865Gfs*28	Ichthyosis vulgaris, Autosomal dominant	0	1397	124	1	0	126	0.0431507	.	.	.	1019162	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1205280854	0.0003	0.0016	0.0004	0.0003	0.0150	0.0003	0.0003	0.0139	0.0134	0.0150	8.971e-05	0	5.141e-05	0	0	0	0.0001	3.488e-05	9.776e-05	0.0079	0.0001	8.565e-05	0.0006	5.861e-05	4.725e-05	0.0002	8.916e-05	0.0002	0	0.0002	0	0.0006	9.509e-05	0	1.482e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	2514.2	1145	chr1	152306292	.	G	GCC	2514.2	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-3.079;DP=6199;ExcessHet=0.3476;FS=0.966;MLEAC=2;MLEAF=0.143;MQ=53.41;MQRankSum=-7.949;QD=0.93;ReadPosRankSum=7.51;SOR=0.723	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1440,124:1564:99:0|1:152306286_A_C:756,0,59666:152306286	5	0	2	0
chr1	152306295	152306296	TG	-	exonic	FLG	.	frameshift deletion	FLG:NM_002016:exon3:c.8590_8591del:p.H2864Cfs*5	Ichthyosis vulgaris, Autosomal dominant	1	1401	119	1	0	121	0.0413958	.	.	.	1019163	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1407703398	0.0003	0.0015	0.0003	0.0002	0.0132	0.0003	0.0003	0.0121	0.0117	0.0132	8.971e-05	0	2.574e-05	0	0	0	8.32e-05	3.487e-05	7.227e-05	0.0080	7.064e-05	7.397e-05	0.0005	3.847e-05	2.957e-05	8.069e-05	3.381e-05	0.0001	0	0.0001	0	0.0005	9.714e-05	0	1.499e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	2326.2	1170	chr1	152306294	.	ATG	A	2326.2	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-1.943;DP=6237;ExcessHet=0.3476;FS=0.964;MLEAC=2;MLEAF=0.143;MQ=53.66;MQRankSum=-8.345;QD=0.85;ReadPosRankSum=6.52;SOR=0.766	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1456,121:1577:99:0|1:152306286_A_C:643,0,60626:152306286	5	0	2	0
chr1	152306299	152306299	T	A	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.A8587T:p.T2863S	Ichthyosis vulgaris, Autosomal dominant	1	1406	114	1	0	116	0.0396175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.00815051428836	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1271569013	0.0003	0.0015	0.0003	0.0002	0.0126	0.0003	0.0002	0.0116	0.0112	0.0126	8.971e-05	0	2.571e-05	0	0	4.498e-06	9.984e-05	1.162e-05	0.0002	0.0082	0.0002	0.0002	0.0005	0.0001	0.0001	0.0003	0.0003	0.0005	0	0.0001	0	0.0005	9.694e-05	0	4.498e-05	0.0005	0	0.75	0.03587	T	.	.	.	0.477	0.36687	P	0.241	0.38645	B	.	.	.	.	1	0.08975	N	1.105	0.28596	L	4.7	0.01673	T	0.28	0.04233	N	0.048	0.01999	-0.9323	0.43799	T	0.002	0.00526	T	9	0.06755382	0.09427	T	0.008151	0.21598	T	0.011	0.01250	0.317	0.29419	0.162503812791	0.15892	0.035396750250694796	0.03486	.	.	0.270178943872	0.06164	T	0.009579	0.08713	T	-0.5121	0.00488	T	-0.68323	0.06789	T	0.0273883762299825	0.01600	T	0.216078	0.02692	T	0.025629967	0.01522	0.028810205	0.01152	0.025629967	0.01522	0.028810205	0.01152	-3.074	0.11000	T	.	.	0.090	0.12655	B	.	.	-0.112232	0.03568	0.691	0.56914044250386053	0.05655	0.01371	0.04680	N	AEFI	0.036336	0.04825	N	-0.963681291731912	0.09387	0.4441023	-1.1154303731441	0.07405	0.3600705	1.18193506777854E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	1.59	0.398	0.15542	-0.081000	0.11285	.	.	-1.396000	0.01145	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2327:0.0:0.7673	3.431	0.06999	561	0.71236	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1429	2180.24	1175	chr1	152306299	.	T	A	2180.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.617;DP=6229;ExcessHet=0.3476;FS=2.188;MLEAC=2;MLEAF=0.143;MQ=53.99;MQRankSum=-8.701;QD=0.8;ReadPosRankSum=5.97;SOR=0.823	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1447,117:1564:99:0|1:152306286_A_C:557,0,60407:152306286	5	0	2	0
chr1	152307499	152307499	G	C	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.C7387G:p.H2463D	Ichthyosis vulgaris, Autosomal dominant	0	1494	28	0	0	28	0.00928382	.	.	.	1182784	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.030	.	0.0064	0.00399361	0.0085	0.0013	0.0031	0	0.0080	0.0113	0.0088	0.0099	0.0079559	1230	154602	rs113188294	0.0088	0.0088	0.0086	0.0090	0.0106	0.0087	0.0086	0.0101	0.0098	0.0012	0.0035	0.0090	2.52e-05	0.0099	0.0087	0.0094	0.0074	0.0106	0.0065	0.0065	0.0067	0.0062	0.0112	0.0061	0.0060	0.0094	0.0091	0.0011	0	0.0039	0.0084	0.0002	0.0088	0.0068	0.0100	0.0086	0.0112	0.04	0.42199	D	.	.	.	0.047	0.21998	B	0.023	0.19966	B	.	.	.	.	1	0.08975	N	2.005	0.54552	M	3.74	0.03951	T	-0.83	0.22727	N	0.136	0.13341	-0.9070	0.47215	T	0.003	0.00994	T	9	0.0056994855	0.00127	T	.	.	.	0.030	0.07022	.	.	0.0920862733494	0.08535	0.12276210705971255	0.12202	.	.	0.219760090113	0.01296	T	0.038544	0.24878	T	-0.627004	0.00100	T	-0.6611	0.08192	T	0.000184961975245628	0.00001	T	0.368563	0.08641	T	0.056045715	0.10974	0.06929913	0.14584	0.056045715	0.10974	0.06929913	0.14584	-8.594	0.65049	D	.	.	0.149	0.32922	B	.	.	0.177181	0.05651	2.102	0.59006915097301893	0.06123	0.01522	0.05020	N	AEFBI	0.026568	0.02019	N	-1.36666663012012	0.02956	0.1313167	-1.41553963925011	0.03096	0.1437654	1.25906150936836E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	2.85	0.755	0.17563	-1.078000	0.03524	.	.	-1.024000	0.01719	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2201:0.5539:0.226	5.540	0.16319	562	0.71143	.	.	.	.	.	.	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	0.007962	0.005102	0.000000	0.000000	0.000000	0.017241	0.021472	0.011364	0.07143	6214.44	317	chr1	152307499	.	G	C	6214.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.276;DP=2290;ExcessHet=0;FS=1.741;MLEAC=1;MLEAF=0.071;MQ=59.86;MQRankSum=2.22;QD=13.9;ReadPosRankSum=-1.428;SOR=0.766	GT:AD:DP:GQ:PL	0/1:226,221:447:99:6225,0,6362	6	0	1	0
chr1	152314011	152314011	C	T	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.G875A:p.R292H	Ichthyosis vulgaris, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.0018094517613	7.7e-05	0.000199681	0.0001	0	0	0.0002	0	0.0001	0	0.0002	0.0001035	16	154602	rs200504242	0.0001	0.0001	0.0001	0.0001	0.0009	0.0001	0.0001	0.0003	0.0002	2.987e-05	0.0002	0	5.038e-05	0	0.0009	0.0001	8.279e-05	0.0002	5.909e-05	5.906e-05	6.423e-05	5.37e-05	0.0002	3.075e-05	2.208e-05	3.243e-05	1.91e-05	9.623e-05	0	6.535e-05	0	0.0002	0	0	4.409e-05	0	0	0.104	0.29959	T	.	.	.	0.685	0.41537	P	0.084	0.29270	B	.	.	.	.	1	0.08975	N	0.695	0.17993	N	5.0	0.01319	T	-0.07	0.08033	N	0.091	0.06990	-0.8932	0.48650	T	0.001	0.00287	T	9	0.030632883	0.01191	T	0.001809	0.03115	T	0.066	0.19193	.	.	0.107399877778	0.10242	0.014747042759860728	0.01431	.	.	0.206758081913	0.00681	T	0.00954	0.08679	T	-0.603975	0.00138	T	-0.811857	0.01624	T	0.0170514483235193	0.00453	T	0.419858	0.11135	T	0.020021552	0.00547	0.032129373	0.01901	0.020021552	0.00546	0.032129373	0.01901	-2.986	0.10031	T	.	.	0.107	0.19958	B	.	.	-0.261949	0.02790	0.380	0.43654348169950119	0.03301	0.00013	0.00170	N	AEFBI	0.015484	0.00297	N	-1.25920684573531	0.04179	0.1881492	-1.40850801187193	0.03167	0.1471621	8.25397902592121E-5	0.04703	0.553676	0.25195	0	0.624306	0.53593	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	2.56	-3.55	0.04343	-1.006000	0.03781	.	.	-1.127000	0.01463	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.5946:0.0:0.4054	8.024	0.29586	584	0.69381	.	.	.	.	.	.	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	4586.44	38	chr1	152314011	.	C	T	4586.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.44;DP=673;ExcessHet=0;FS=4.629;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.74;ReadPosRankSum=-0.066;SOR=0.513	GT:AD:DP:GQ:PL	0/1:179,181:360:99:4597,0,4073	6	0	1	0
chr1	152358862	152358862	A	C	exonic	FLG2	.	nonsynonymous SNV	FLG2:NM_001014342:exon2:c.T23G:p.V8G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.274	0.0209128610664	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.986	0.76916	D	.	.	.	.	0.999941	0.51968	D	2.645	0.77386	M	2.82	0.10871	T	-6.57	0.91912	D	0.581	0.60241	-1.1642	0.00659	T	0.047	0.20275	T	9	0.75173163	0.75687	D	0.020913	0.43593	T	0.274	0.59007	0.741	0.87317	0.361958692863	0.35806	0.42381781108691113	0.42298	0.029538132252	0.03033	0.397414088249	0.24709	T	0.013707	0.11803	T	0.0347009	0.56349	T	-0.187931	0.55784	T	0.978758931159973	0.72484	D	0.544146	0.18565	T	0.9109156	0.92380	0.8573952	0.92002	0.9109156	0.92381	0.8573952	0.92003	-9.55	0.71170	D	.	.	0.909	0.83374	P	.	.	3.758648	0.53913	23.4	0.99007570366533371	0.50293	0.92898	0.56818	D	AEFBI	0.614017	0.60149	D	0.636802482619251	0.75517	6.320027	0.607298814103239	0.75470	6.315981	0.608422360232043	0.21784	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.26	5.26	0.73479	3.134000	0.50233	.	.	0.756000	0.94297	0.575000	0.27546	0.909000	0.28100	0.979000	0.57723	1.0:0.0:0.0:0.0	11.859	0.51732	561	0.71236	S100/CaBP-9k-type, calcium binding, subdomain|S100/CaBP-9k-type, calcium binding, subdomain|S-100	.	.	.	.	.	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	1219.53	37	chr1	152358862	.	A	C	1219.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.43;DP=315;ExcessHet=0;FS=0.688;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.91;ReadPosRankSum=-0.69;SOR=0.827	GT:AD:DP:GQ:PL	0/1:70,53:123:99:1230,0,1610	6	0	1	0
chr1	152910506	152910506	C	0	exonic	IVL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	49.09	13	chr1	152910506	.	C	*	49.09	.	AC=2;AF=0.2;AN=10;BaseQRankSum=-0.038;DP=182;ExcessHet=1.383;FS=0;MLEAC=2;MLEAF=0.2;MQ=60;MQRankSum=0;QD=0.62;ReadPosRankSum=-1.413;SOR=0.611	GT:AD:DP:GQ:PL	0/1:27,16:43:99:406,0,867	3	0	2	2
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	0/1:101,62:163:99:352,0,1251	3	0	3	1
chr1	155288248	155288248	C	T	exonic	HCN3	.	nonsynonymous SNV	HCN3:NM_020897:exon8:c.C2110T:p.R704W	.	402	1119	1	0	0	1	0.000446628	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.293	0.0422139682867	.	.	6.023e-05	0	0	0	0	7.564e-05	0	8.646e-05	2.59e-05	4	154602	rs753181610	5.495e-05	5.541e-05	5.807e-05	5.179e-05	0.0003	4.485e-05	4.151e-05	6.339e-05	4.336e-05	0	0.0001	0	5.167e-05	0	0.0003	5.074e-05	6.706e-05	0.0001	5.918e-05	5.911e-05	6.427e-05	5.385e-05	0.0003	3.079e-05	2.211e-05	8.88e-05	5.388e-05	4.829e-05	0	0.0003	0	0	0	0	4.412e-05	0	0	0.034	0.44029	D	0.017	0.60337	D	0.035	0.20614	B	0.004	0.10090	B	0.000349	0.45440	D	0.000000	0.999825	0.20203	N	1.65	0.42232	L	-4.74	0.98081	D	-1.83	0.42957	N	0.142	0.14196	-0.0456	0.81299	T	0.615	0.86401	D	10	0.09215662	0.16204	T	0.042214	0.60346	D	0.293	0.61272	.	.	0.757921988993	0.75572	0.5067270263960159	0.50594	0.851800166923	0.68574	0.718704998493	0.69858	T	0.069731	0.33783	T	-0.0927845	0.37617	T	-0.165549	0.57849	T	0.06868476364411	0.08465	T	.	.	.	0.0698521	0.15337	0.071309045	0.15254	0.0698521	0.15337	0.071309045	0.15254	-4.785	0.34416	T	.	.	0.154	0.34004	B	.	.	2.557227	0.33111	19.24	0.9983555610134609	0.91628	0.29961	0.23959	N	AEFDGBCI	0.137176	0.25807	N	-0.876128527510028	0.11413	0.5505942	-0.868624009131649	0.12840	0.6628578	0.994463035258766	0.33649	0.646311	0.45356	0	0.670034	0.63936	0	0.645312	0.48771	0	0.586402	0.36253	0	.	.	4.91	-0.938	0.09882	-1.899000	0.01691	-0.062000	0.12412	-0.182000	0.10109	0.000000	0.06391	0.004000	0.18990	0.988000	0.63387	0.5253:0.3978:0.0:0.0769	8.176	0.30444	42	0.97857	.	.	.	.	.	.	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	458.27	33	chr1	155288248	.	C	T	458.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.968;DP=223;ExcessHet=0;FS=0.981;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.27;ReadPosRankSum=0.281;SOR=0.563	GT:AD:DP:GQ:PL	0/1:41,22:63:99:468,0,953	5	0	1	1
chr1	155776454	155776454	G	C	exonic	GON4L	.	nonsynonymous SNV	GON4L:NM_001282856:exon16:c.C2119G:p.L707V,GON4L:NM_001282858:exon16:c.C2119G:p.L707V,GON4L:NM_001282860:exon16:c.C2119G:p.L707V,GON4L:NM_001282861:exon16:c.C2119G:p.L707V,GON4L:NM_032292:exon16:c.C2119G:p.L707V	.	0	1510	10	2	0	14	0.00461437	.	.	.	2806045	GON4L-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.244	0.0100874149664	0.0028	0.00119808	0.0040	9.612e-05	0.0027	0.0001	0.0039	0.0058	0.0055	0.0021	0.0037839	585	154602	rs146504521	0.0034	0.0035	0.0033	0.0034	0.0035	0.0033	0.0033	0.0032	0.0032	0.0006	0.0034	0.0158	2.519e-05	0.0040	0.0035	0.0033	0.0045	0.0020	0.0028	0.0028	0.0027	0.0028	0.0037	0.0026	0.0025	0.0033	0.0032	0.0004	0	0.0036	0.0107	0	0.0035	0.0102	0.0037	0.0052	0.0017	0.115	0.29688	T	0.002	0.79402	D	0.998	0.77913	D	0.996	0.88582	D	0.000031	0.55875	D	0.074299	0.999017	0.45878	D	2.32	0.66415	M	2.15	0.21666	T	-1.82	0.42763	N	0.606	0.70351	-1.1423	0.01275	T	0.070	0.28740	T	10	0.008015126	0.00182	T	0.010087	0.26213	T	0.244	0.55061	.	.	0.443848435703	0.44006	0.7792985712579287	0.77880	1.72089044569	0.90581	0.521779358387	0.41876	T	0.155469	0.49722	T	-0.383467	0.02962	T	-0.323197	0.42224	T	0.00843386213030176	0.00102	T	0.943306	0.79528	D	0.22679141	0.45367	0.1800077	0.40773	0.22679141	0.45367	0.1800077	0.40772	-10.733	0.78173	D	.	.	0.230	0.50054	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.615462	0.73231	26.0	0.99792468392683908	0.87839	0.97131	0.72871	D	AEFDBHCI	0.520786	0.54550	D	0.581408086996683	0.72016	5.739631	0.581827532717415	0.73636	6.003262	0.999999839549231	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.82	4.82	0.61641	6.534000	0.73741	9.722000	0.81369	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.972000	0.54974	0.0:0.0:1.0:0.0	17.772	0.88404	67	0.97183	.;.;.;.;.;.;.	.	.	.	.	.	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	0.003528	0.005051	0.004076	0.005848	0.000000	0.000000	0.003049	0.000000	0.2143	1584.97	43	chr1	155776454	.	G	C	1584.97	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-0.512;DP=275;ExcessHet=1.1394;FS=0;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=9.27;ReadPosRankSum=0.649;SOR=0.695	GT:AD:DP:GQ:PL	0/1:38,45:83:99:990,0,843	4	0	3	0
chr1	156266023	156266023	G	A	exonic	SMG5	.	nonsynonymous SNV	SMG5:NM_001323615:exon11:c.C1475T:p.T492I,SMG5:NM_001323614:exon12:c.C1613T:p.T538I,SMG5:NM_015327:exon12:c.C1613T:p.T538I,SMG5:NM_001323616:exon13:c.C1415T:p.T472I,SMG5:NM_001323617:exon13:c.C1415T:p.T472I	.	426	1082	13	1	0	15	0.00688389	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.00448310815964	.	0.000798722	0.0007	9.621e-05	0.0002	0.0001	0	0.0001	0.0011	0.0041	0.0005821	90	154602	rs199926708	0.0004	0.0004	0.0002	0.0006	0.0046	0.0004	0.0004	0.0042	0.0041	0	2.236e-05	0	0	0	0.0021	0.0001	0.0004	0.0046	0.0003	0.0003	0.0002	0.0003	0.0052	0.0002	0.0002	0.0036	0.0031	0	0	0	0	0.0004	0	0	0.0002	0	0.0052	0.11	0.29158	T	0.152	0.32249	T	0.0	0.02946	B	0.0	0.01387	B	0.024058	0.26331	N	0.412877	1	0.81001	D	0	0.06538	N	1.51	0.30937	T	-0.55	0.16799	N	0.132	0.12770	-1.0878	0.05908	T	0.024	0.10148	T	10	0.002447158	0.00037	T	0.004483	0.11000	T	0.100	0.28662	.	.	0.24933006939	0.24537	0.13302939099555572	0.13226	0.30959749131	0.33265	0.335560500622	0.15773	T	0.019821	0.15719	T	-0.604954	0.00136	T	-0.641347	0.09571	T	0.025584432604545	0.01350	T	0.642936	0.25461	T	0.06652615	0.14321	0.06867833	0.14374	0.06652615	0.14321	0.06867833	0.14374	-5.204	0.38982	T	.	.	0.080	0.07602	B	.	.	1.122900	0.15086	11.58	0.95060026002545306	0.26087	0.58794	0.30738	D	AEFGBCI	0.345821	0.44084	N	-0.501987002992586	0.22015	1.172604	-0.365006010001851	0.26050	1.436355	0.999999922507454	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.99	4.99	0.65942	2.628000	0.46143	2.551000	0.33264	0.676000	0.76740	0.112000	0.23030	0.090000	0.22521	0.951000	0.49849	0.0:0.0:1.0:0.0	17.010	0.86277	290	0.88477	.	.	.	.	.	.	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	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.2857	8841.84	33	chr1	156266023	.	G	A	8841.84	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-0.592;DP=575;ExcessHet=0.0921;FS=1.195;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=19.01;ReadPosRankSum=-0.785;SOR=0.583	GT:AD:DP:GQ:PL	0/1:84,93:177:99:2285,0,2191	4	1	2	0
chr1	156530193	156530193	C	T	exonic	IQGAP3	.	nonsynonymous SNV	IQGAP3:NM_178229:exon34:c.G4316A:p.R1439H	.	420	1099	3	0	0	3	0.00136302	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.291	0.0396552663372	.	0.000199681	5.493e-05	0	0	0	0	3.282e-05	0	0.0003	4.53e-05	7	154602	rs201439773	6.847e-05	6.977e-05	4.768e-05	8.948e-05	0.0005	5.718e-05	5.331e-05	0.0004	0.0003	0	0	0	2.521e-05	0	0.0002	4.228e-05	0.0001	0.0005	5.909e-05	5.905e-05	3.855e-05	8.055e-05	0.0004	3.075e-05	2.208e-05	7.29e-05	3.029e-05	2.405e-05	0	0	0	0.0004	0	0	5.88e-05	0	0.0004	0.002	0.72154	D	0.003	0.76473	D	1.0	0.90584	D	0.986	0.76916	D	0.000506	0.43753	D	0.180937	0.929592	0.36931	D	2.65	0.77586	M	0.89	0.45636	T	-2.94	0.61435	D	0.357	0.39861	-0.7712	0.56792	T	0.172	0.51325	T	10	0.2638523	0.43867	T	0.039655	0.58934	D	0.291	0.61040	.	.	0.735594876934	0.73323	0.3049500561761809	0.30408	0.690861133062	0.60560	0.496938049793	0.38401	T	0.23355	0.60038	T	-0.343355	0.05159	T	-0.407039	0.32567	T	0.610886752605438	0.36836	D	0.914708	0.69569	D	0.20485762	0.42609	0.1754461	0.40011	0.20485762	0.42609	0.1754461	0.40010	-5.467	0.41559	T	.	.	0.098	0.16099	B	.	.	3.871675	0.56212	23.7	0.99935227491344891	0.99579	0.74768	0.36584	D	AEFDGBI	0.127245	0.24453	N	0.386034027732741	0.60663	4.257906	0.246918450097902	0.52473	3.422021	0.999947808557936	0.47345	0.706548	0.73137	0	0.708844	0.79440	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	4.5	4.5	0.54382	2.977000	0.48988	3.215000	0.36822	0.581000	0.30040	0.997000	0.40164	0.997000	0.33255	0.789000	0.37270	0.0:0.9049:0.0:0.0951	10.471	0.43822	567	0.70732	RasGAP protein, 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	0.001009	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.2143	11280.7	76	chr1	156530193	.	C	T	11280.7	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-1.856;DP=630;ExcessHet=0;FS=0.456;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=31.51;ReadPosRankSum=-0.891;SOR=0.636	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:84,75:159:99:0|1:156530177_T_C:2757,0,3117:156530177	5	1	1	0
chr1	156743839	156743839	C	T	exonic	HDGF	.	nonsynonymous SNV	HDGF:NM_001126050:exon5:c.G577A:p.G193R,HDGF:NM_001126051:exon5:c.G508A:p.G170R,HDGF:NM_001319186:exon5:c.G598A:p.G200R,HDGF:NM_001319187:exon5:c.G433A:p.G145R,HDGF:NM_004494:exon5:c.G529A:p.G177R,HDGF:NM_001319188:exon6:c.G433A:p.G145R	.	399	1109	13	1	0	15	0.00671742	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	.	0.0004	0.00938498	0.0060	0.0017	0.0005	0.0012	0	3.014e-05	0.0034	0.0423	0.0051616	798	154602	rs73002716	0.0027	0.0027	0.0014	0.0039	0.0418	0.0026	0.0026	0.0407	0.0402	0.0015	0.0001	0	0.0011	0	0.0028	2.069e-05	0.0025	0.0418	0.0018	0.0018	0.0010	0.0027	0.0433	0.0016	0.0016	0.0385	0.0367	0.0014	0	0.0001	0	0.0006	0	0	2.94e-05	0.0005	0.0433	0.484	0.20154	T	0.152	0.40110	T	0.0	0.02946	B	0.001	0.04355	B	0.183759	0.17032	U	0.488989	0.994512	0.24711	N	0.755	0.19153	N	1.92	0.32722	T	-0.15	0.15578	N	0.143	0.15609	-1.0353	0.18762	T	0.018	0.07612	T	10	0.0023260415	0.00034	T	.	.	.	0.024	0.04979	0.186	0.09517	0.376570364461	0.37271	0.15704871913818222	0.15625	1.07742525153	0.77023	0.39216697216	0.23974	T	0.080118	0.36288	T	-0.599948	0.00146	T	-0.604573	0.12429	T	0.0205574199020793	0.00755	T	0.727127	0.34152	T	0.020746972	0.00644	0.03842232	0.03707	0.020746972	0.00644	0.03842232	0.03706	-4.71	0.33525	T	.	.	0.112	0.29670	B	.;.;.;.	.;.;.;.	3.304976	0.45390	22.1	0.85570904600086095	0.15976	0.87681	0.47302	D	AEFDBCI	0.333795	0.43277	N	-0.355671148130692	0.27065	1.481947	-0.231264511611906	0.30423	1.712775	0.999998540497223	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.48	3.56	0.39892	2.510000	0.45129	4.755000	0.44682	0.596000	0.33519	0.902000	0.31475	1.000000	0.68203	0.991000	0.66497	0.0:0.8919:0.0:0.1081	8.405	0.31773	511	0.75131	.;.;.;.	.	.	.	.	.	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	0.018939	0.08333	577.27	34	chr1	156743839	.	C	T	577.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.56;DP=202;ExcessHet=0;FS=2.709;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.74;ReadPosRankSum=-0.654;SOR=1.182	GT:AD:DP:GQ:PL	0/1:21,21:42:99:587,0,525	5	0	1	1
chr1	158652571	158652571	C	G	exonic	SPTA1	.	nonsynonymous SNV	SPTA1:NM_003126:exon23:c.G3271C:p.A1091P	Elliptocytosis-2, Autosomal dominant;Pyropoikilocytosis, Autosomal recessive;Spherocytosis, type 3, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.543	0.189188174775	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.01	0.65728	D	1.0	0.90584	D	0.999	0.92359	D	0.006559	0.31955	N	0.000000	1	0.81001	D	3.005	0.85968	M	0.21	0.59983	T	-4.21	0.75776	D	0.867	0.86404	-0.3168	0.74511	T	0.356	0.71881	T	10	0.9235935	0.91710	D	0.189188	0.86047	D	0.543	0.80960	0.752	0.88237	0.847815033353	0.84635	0.8614089977129892	0.86104	0.243668225337	0.26869	0.683357298374	0.64751	T	0.692392	0.91068	D	0.299143	0.82899	D	0.191922	0.82678	D	0.995458364486694	0.87455	D	0.752925	0.37500	T	0.9427935	0.95532	0.9255177	0.96783	0.9427935	0.95532	0.9255177	0.96784	-11.24	0.80958	D	0.7227345628681306	0.80392	0.977	0.90609	P	.;.	.;.	4.288278	0.65375	24.8	0.99780095318702455	0.86693	0.98107	0.79657	D	AEFGBI	0.853602	0.77057	D	0.775340336010476	0.84542	8.31683	0.739224692975231	0.85351	8.554286	0.999999987283579	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.21	5.21	0.72005	5.242000	0.65211	4.861000	0.45471	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.0:1.0:0.0:0.0	17.501	0.87628	602	0.67834	.;.	.	.	.	.	.	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	43.78	34	chr1	158652571	.	C	G	43.78	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-4.135;DP=432;ExcessHet=0;FS=219.121;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=0.27;ReadPosRankSum=0.805;SOR=7.222	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:128,36:164:53:0|1:158652571_C_G:53,0,3672:158652571	5	0	1	1
chr1	160357099	160357099	C	G	exonic	NCSTN	.	nonsynonymous SNV	NCSTN:NM_001290186:exon13:c.C1439G:p.P480R,NCSTN:NM_015331:exon16:c.C1853G:p.P618R,NCSTN:NM_001290184:exon17:c.C1793G:p.P598R	Acne inversa, familial, 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.292	0.0576689649956	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	0.49613	D	0.115	0.36630	T	0.788	0.44546	P	0.291	0.40706	B	0.000155	0.49130	D	0.219840	0.999843	0.49770	D	2.35	0.67516	M	-1.0	0.76037	T	-1.86	0.43524	N	0.7	0.70439	-0.1422	0.79111	T	0.451	0.78526	T	10	0.6695975	0.70632	D	0.057669	0.67049	D	0.292	0.61157	0.316	0.29258	0.654205460657	0.65131	0.9332265674212082	0.93301	0.371353621194	0.38636	0.430800437927	0.29318	T	0.389617	0.75000	T	0.164177	0.70587	D	-0.00194783	0.70209	D	0.849040687084198	0.50082	D	0.90061	0.65471	D	0.14509284	0.33275	0.1041981	0.25019	0.14509284	0.33275	0.1041981	0.25019	-8.78	0.66270	D	0.6906319644848096	0.76829	0.298	0.52809	B	.	.	3.995584	0.58836	24.0	0.99356296992499116	0.60820	0.91362	0.53381	D	AEFDBI	0.679657	0.64361	D	0.47659074319693	0.65726	4.858862	0.514044553791494	0.68935	5.289106	0.999999966706643	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.55	5.55	0.83298	4.348000	0.59158	7.661000	0.64234	0.599000	0.40250	0.823000	0.30032	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	18.058	0.89294	698	0.58074	.	.	.	.	.	.	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	808.44	33	chr1	160357099	.	C	G	808.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.953;DP=291;ExcessHet=0;FS=1.58;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.28;ReadPosRankSum=0.301;SOR=0.722	GT:AD:DP:GQ:PL	0/1:71,40:111:99:819,0,1858	6	0	1	0
chr1	160824180	160824180	G	A	splicing	LY9	NM_002348:exon9:c.1831-1G>A;NM_001261457:exon8:c.1561-1G>A;NM_001261456:exon9:c.1789-1G>A	.	.	.	.	.	.	.	.	.	.	0.9999	0.884	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999993	0.23214	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.278787	0.10797	T	-0.638235	0.09799	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	3.217191	0.43821	21.8	0.95079811824871407	0.26130	0.04676	0.10356	N	AEFDBI	.	.	.	0.341381910044106	0.58285	3.999959	-0.0154552960697631	0.39017	2.307079	0.0101780682389024	0.11979	0.201396	0.04071	1	0.150672	0.03543	2	0.060301	0.00762	0	0.058706	0.01089	0	0.132529	0.26021	3.57	2.63	0.30420	1.059000	0.30127	3.296000	0.37344	0.575000	0.29119	0.216000	0.24491	0.999000	0.35428	0.744000	0.35576	0.0:0.0:0.7637:0.2363	8.258	0.30925	789	0.46346	.;.;.	.	.	.	.	.	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	1248.63	41	chr1	160824180	.	G	A	1248.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.49;DP=318;ExcessHet=0;FS=6.002;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.86;ReadPosRankSum=-0.959;SOR=1.294	GT:AD:DP:GQ:PL	0/1:65,50:115:99:1259,0,1516	6	0	1	0
chr1	161048864	161048864	C	G	exonic	ARHGAP30	.	nonsynonymous SNV	ARHGAP30:NM_001287602:exon8:c.G1626C:p.K542N,ARHGAP30:NM_001287600:exon11:c.G1713C:p.K571N,ARHGAP30:NM_001025598:exon12:c.G2157C:p.K719N	.	371	1150	1	0	0	1	0.000434594	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.00594878585391	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.237e-05	0.0009	1.505e-05	9.664e-06	2.999e-05	7.73e-06	6.38e-06	9.36e-06	7.65e-06	2.999e-05	0	0	0	0	0	1.537e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.563	0.06691	T	0.539	0.12037	T	0.0	0.02946	B	0.001	0.04355	B	0.167583	0.17472	N	0.469196	1	0.19238	N	0.55	0.14455	N	3.07	0.30133	T	0.59	0.02558	N	0.032	0.00825	-0.9399	0.42632	T	0.010	0.03673	T	10	0.032844096	0.01445	T	0.005949	0.15520	T	0.026	0.05648	0.085	0.00830	0.082315109003	0.07666	0.020223521516263606	0.01975	0.0321919343221	0.03346	0.227677255869	0.01800	T	0.007284	0.06695	T	-0.397532	0.02403	T	-0.808803	0.01692	T	0.0349868424236774	0.02805	T	0.608539	0.22995	T	0.041750744	0.06205	0.033273403	0.02195	0.041750744	0.06205	0.033273403	0.02195	-4.588	0.32020	T	.	.	0.104	0.29560	B	.;.	.;.	0.272084	0.06499	2.975	0.87093396735068451	0.16984	0.17351	0.19799	N	AEFDBCI	0.077101	0.15528	N	-1.02014869570935	0.08186	0.382952	-0.959379613406779	0.10706	0.5409345	0.999970802198825	0.50053	0.67177	0.52595	0	0.702456	0.74545	0	0.590023	0.30420	0	0.567892	0.33627	0	.	.	4.64	2.21	0.27042	0.214000	0.17331	0.493000	0.18920	0.587000	0.30956	0.000000	0.06391	0.004000	0.18990	0.038000	0.14061	0.2667:0.4814:0.1544:0.0974	2.806	0.05095	531	0.73574	.;.	.	.	.	.	.	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	988.67	156	chr1	161048864	.	C	G	988.67	.	AC=3;AF=0.3;AN=10;BaseQRankSum=-5.131;DP=1126;ExcessHet=1.1394;FS=231.764;MLEAC=4;MLEAF=0.4;MQ=60;MQRankSum=0;QD=1.68;ReadPosRankSum=1.96;SOR=9.18	GT:AD:DP:GQ:PL	0/1:159,69:241:99:531,0,3099	2	0	3	2
chr1	175098538	175098538	G	T	exonic	TNN	.	nonsynonymous SNV	TNN:NM_022093:exon9:c.G2062T:p.V688L	.	409	1099	11	3	0	17	0.00767494	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.330	.	0.0002	0.0129792	0.0069	9.612e-05	0.0003	0.0013	0	0.0002	0.0022	0.0487	0.0060478	935	154602	rs149504279	0.0029	0.0029	0.0016	0.0042	0.0452	0.0028	0.0028	0.0441	0.0436	0.0001	8.944e-05	0	0.0014	0	0.0024	7.824e-05	0.0033	0.0452	0.0017	0.0017	0.0011	0.0024	0.0508	0.0016	0.0015	0.0456	0.0436	7.219e-05	0	0	0	0.0015	0	0	0.0001	0	0.0508	0.175	0.22400	T	0.207	0.26969	T	0.975	0.58077	D	0.942	0.67772	D	0.000327	0.45700	D	0.199290	0.990747	0.41226	D	1.41	0.35535	L	-0.64	0.72125	T	-0.54	0.16598	N	0.537	0.56489	-0.5629	0.66293	T	0.357	0.71975	T	10	0.008049369	0.00183	T	.	.	.	0.330	0.65226	0.743	0.87486	0.862604737212	0.86127	0.31124368057556756	0.31037	0.260701197531	0.28632	0.43714928627	0.30187	T	0.003354	0.02758	T	-0.385104	0.02892	T	-0.291644	0.45600	T	0.0292466898942131	0.01874	T	0.845715	0.52486	T	0.07294253	0.16263	0.102985725	0.24697	0.07294253	0.16263	0.102985725	0.24697	-8.221	0.62566	D	.	.	0.382	0.58540	A	.	.	3.700298	0.52769	23.3	0.99735804925074412	0.83119	0.58488	0.30655	D	AEFDBI	0.187410	0.31470	N	0.0911687269453933	0.46052	2.851595	0.0926605778240921	0.44179	2.704688	0.0327117578301848	0.14068	0.554377	0.28877	0	0.563428	0.19063	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.15	4.17	0.48303	1.006000	0.29449	11.688000	0.94314	0.618000	0.50648	0.672000	0.28366	1.000000	0.68203	0.914000	0.44937	0.0:0.2162:0.6316:0.1522	8.431	0.31919	665	0.61472	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	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	0.005814	0.000000	0.002717	0.004098	0.000000	0.000000	0.000000	0.015152	0.07143	3676.44	33	chr1	175098538	.	G	T	3676.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.8;DP=501;ExcessHet=0;FS=5.262;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.3;ReadPosRankSum=0.5;SOR=0.829	GT:AD:DP:GQ:PL	0/1:156,143:299:99:3687,0,3543	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|1:30,43:73:99:1|0:175160788_C_CCTT:1482,0,1064:175160788	4	0	3	0
chr1	196745966	196745966	A	G	exonic	CFH	.	nonsynonymous SNV	CFH:NM_000186:exon21:c.A3460G:p.N1154D	Basal laminar drusen, Autosomal dominant;Complement factor H deficiency, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.0468563940927	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	0.35349	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	0.999992	0.08975	N	.	.	.	-0.09	0.64086	T	-4.19	0.75615	D	0.225	0.25253	-0.9980	0.30479	T	0.141	0.46128	T	9	0.40126646	0.55584	T	0.046856	0.62653	D	0.142	0.37995	0.718	0.85319	0.883643174789	0.88250	0.8738693464291831	0.87352	2.10248083902	0.94861	0.441660583019	0.30804	T	.	.	.	-0.110221	0.34730	T	-0.396102	0.33837	T	0.489118246152688	0.32232	T	0.666133	0.27528	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.23500	B	.	.	1.299189	0.17006	12.90	0.993687937241446	0.61326	0.06424	0.12429	N	AEFGI	0.527457	0.54939	D	-0.723644635361548	0.15358	0.7733086	-0.759120574233883	0.15498	0.815391	4.83533103475109E-5	0.03989	0.693126	0.56070	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.97	1.26	0.20534	0.056000	0.14136	0.079000	0.14366	0.748000	0.86766	0.001000	0.13787	0.000000	0.08366	0.985000	0.61073	0.6781:0.0:0.1701:0.1518	4.041	0.09234	534	0.73357	.	.	.	.	.	.	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	3900.44	34	chr1	196745966	.	A	G	3900.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.261;DP=551;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=52.21;MQRankSum=-0.846;QD=11.11;ReadPosRankSum=-0.563;SOR=0.691	GT:AD:DP:GQ:PL	0/1:187,164:351:99:3911,0,4849	6	0	1	0
chr1	201209798	201209798	-	GCAGGTTATAGGAAGGATTTGGGGGCTCCTAAGGGAATGGGTTCAGGGAGTAAGGCAAGTTTTAGGGATGGTTTAGGGGGTTCTGGAGAAATGGGGTCAGTGAATGAA	exonic	IGFN1	.	nonframeshift insertion	IGFN1:NM_001164586:exon12:c.4905_4906insGCAGGTTATAGGAAGGATTTGGGGGCTCCTAAGGGAATGGGTTCAGGGAGTAAGGCAAGTTTTAGGGATGGTTTAGGGGGTTCTGGAGAAATGGGGTCAGTGAATGAA:p.G1647_I1648insMGSGSKASFRDGLGGSGEMGSVNEAGYRKDLGAPKG	.	682	662	104	2	72	180	0.075419	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008	0	0	0	0	0.0021	0	0	.	.	.	.	0.0018	0.0016	0.0018	0.0018	0.0119	0.0017	0.0016	0.0084	0.0073	0.0119	0.0021	0.0016	0.0109	0.0043	0	0.0013	0.0023	0.0021	0.0006	0.0094	0.0010	0.0002	0.0037	0.0003	0.0002	0.0001	7.467e-05	0.0004	0	0.0007	0	0.0037	0.0015	0	0.0005	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	8971.27	183	chr1	201209798	.	G	GGCAGGTTATAGGAAGGATTTGGGGGCTCCTAAGGGAATGGGTTCAGGGAGTAAGGCAAGTTTTAGGGATGGTTTAGGGGGTTCTGGAGAAATGGGGTCAGTGAATGAA	8971.27	.	AC=2;AF=0.5;AN=4;BaseQRankSum=1.38;DP=1569;ExcessHet=0;FS=1.947;MLEAC=3;MLEAF=0.75;MQ=51.25;MQRankSum=-9.053;QD=26.16;ReadPosRankSum=-9.008;SOR=0.826	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:94,227:321:99:.:.:8981,430,0:.	1	1	0	5
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	0/1:131,42:173:99:.:.:173,0,2889:.	3	0	4	0
chr1	205915106	205915106	G	T	exonic	SLC26A9	.	nonsynonymous SNV	SLC26A9:NM_134325:exon22:c.C2450A:p.A817D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.06703353179	.	.	.	.	.	.	.	.	.	.	.	.	.	rs767516646	6.841e-07	6.84e-07	1.361e-06	0	2.236e-05	0	0	.	.	0	2.236e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.0	0.92824	D	.	.	.	.	.	.	0.023702	0.01597	N	2.812080	1	0.08975	N	.	.	.	-3.27	0.93640	D	-0.05	0.07736	N	0.075	0.04913	-0.2645	0.75965	T	0.500	0.81110	D	10	0.065490484	0.08844	T	0.067034	0.70049	D	0.116	0.32463	0.307	0.27806	0.184867976434	0.18130	0.1276473953066056	0.12690	0.207801268621	0.23247	0.279533684254	0.07427	T	.	.	.	-0.163113	0.26282	T	-0.389212	0.34643	T	0.106747478246689	0.13084	T	0.317468	0.06331	T	.	.	.	.	.	.	.	.	-3.935	0.22828	T	.	.	0.097	0.15609	B	.;.	.;.	-0.068611	0.03831	0.821	0.96740248719998934	0.30920	0.03635	0.08881	N	AEFDBI	0.101767	0.20432	N	-1.15214546705448	0.05745	0.2627018	-1.20071764211014	0.05899	0.2823963	0.942781054298541	0.27538	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.04	-2.01	0.07003	-1.058000	0.03593	0.199000	0.15831	-0.699000	0.04065	0.000000	0.06391	0.000000	0.08366	0.021000	0.11733	0.1581:0.2537:0.3288:0.2594	1.374	0.02082	820	0.40914	.;.	.	.	.	.	.	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	1681.44	33	chr1	205915106	.	G	T	1681.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.472;DP=336;ExcessHet=0;FS=0.623;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.21;ReadPosRankSum=-1.202;SOR=0.756	GT:AD:DP:GQ:PL	0/1:83,67:150:99:1692,0,2303	6	0	1	0
chr1	205931898	205931898	C	T	exonic	SLC26A9	.	nonsynonymous SNV	SLC26A9:NM_052934:exon5:c.G514A:p.V172M,SLC26A9:NM_134325:exon5:c.G514A:p.V172M	.	419	1083	17	2	1	22	0.00960219	.	.	.	2816003	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.397	.	0.0085	0.00359425	0.0058	0.0017	0.0068	0	0.0011	0.0083	0.0089	0.0025	0.0058473	904	154602	rs146704092	0.0094	0.0094	0.0095	0.0093	0.0114	0.0092	0.0092	0.0106	0.0105	0.0014	0.0072	0.0110	0	0.0019	0.0114	0.0107	0.0097	0.0040	0.0065	0.0065	0.0072	0.0059	0.0104	0.0062	0.0060	0.0098	0.0095	0.0019	0	0.0075	0.0115	0	0.0008	0.0102	0.0104	0.0099	0.0037	0.001	0.78490	D	0.007	0.69154	D	0.96	0.55278	D	0.539	0.48797	P	0.000588	0.43095	D	0.076895	0.511617	0.31824	D	1.975	0.53506	M	-3.33	0.93928	D	-2.49	0.54217	N	0.552	0.59901	0.324	0.87936	D	0.578	0.84805	D	10	0.01134181	0.00248	T	.	.	.	0.397	0.71163	.	.	0.617109349803	0.61401	0.6109526738294958	0.61027	0.225470184611	0.25090	0.561065077782	0.47418	T	0.761479	0.93542	D	-0.208106	0.19646	T	-0.0623108	0.66171	T	0.0326912113772021	0.02420	T	0.946405	0.79487	D	0.4974332	0.66944	0.4550023	0.68314	0.4974332	0.66945	0.4550023	0.68314	-6.052	0.47898	T	.	.	0.292	0.52301	B	.;.;.	.;.;.	4.745993	0.76591	26.5	0.99883720873449444	0.95970	0.65647	0.32807	D	AEFDBI	0.124916	0.24119	N	0.3329950590282	0.57849	3.954021	0.401380995396917	0.61652	4.368212	0.999973006693569	0.50053	0.446893	0.09132	0	0.563428	0.19063	0	0.573078	0.19857	0	0.613276	0.41899	0	.	.	5.24	5.24	0.72863	2.706000	0.46803	4.814000	0.45064	0.599000	0.40250	0.993000	0.37899	1.000000	0.68203	0.984000	0.60418	0.0:0.787:0.0:0.213	7.217	0.25139	.	.	.;SLC26A/SulP transporter 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	0.010574	0.025253	0.010870	0.005848	0.000000	0.000000	0.003049	0.007576	0.07143	1466.44	34	chr1	205931898	.	C	T	1466.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.58;DP=341;ExcessHet=0;FS=0.619;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.91;ReadPosRankSum=0.626;SOR=0.61	GT:AD:DP:GQ:PL	0/1:83,65:148:99:1477,0,1894	6	0	1	0
chr1	206932498	206932498	C	G	exonic	PIGR	.	nonsynonymous SNV	PIGR:NM_002644:exon8:c.G1966C:p.V656L	.	413	1087	18	4	0	26	0.0118182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.00592024340116	0.0004	0.000599042	0.0011	9.636e-05	0.0013	0	0	0.0014	0.0066	0.0011	0.0010931	169	154602	rs148554144	0.0008	0.0008	0.0007	0.0009	0.0188	0.0008	0.0008	0.0158	0.0146	0.0008	0.0015	0.0037	0	0.0001	0.0188	0.0006	0.0019	0.0009	0.0008	0.0008	0.0008	0.0008	0.0014	0.0007	0.0006	0.0010	0.0008	0.0002	0.0044	0.0014	0.0032	0	9.418e-05	0.0170	0.0010	0.0014	0.0004	0.154	0.24277	T	0.36	0.16964	T	0.046	0.21875	B	0.014	0.16862	B	0.810141	0.06822	N	1.097150	1	0.08975	N	1.495	0.37439	L	2.25	0.17761	T	-1.15	0.29525	N	0.122	0.11340	-0.9914	0.32244	T	0.023	0.09741	T	10	0.004830539	0.00103	T	0.00592	0.15430	T	0.011	0.01250	0.321	0.30064	0.102598925029	0.09809	0.20488236603337995	0.20405	0.312803264204	0.33579	0.355740189552	0.18764	T	0.167494	0.51414	T	-0.667726	0.00057	T	-0.772452	0.02688	T	0.0034461482675879	0.00036	T	0.573743	0.20563	T	0.068330966	0.14877	0.053129427	0.08890	0.068330966	0.14877	0.053129427	0.08889	-4.186	0.26548	T	.	.	0.131	0.28203	B	.	.	0.427079	0.07975	4.689	0.84855032075228121	0.15537	0.04391	0.09973	N	AEFDBCI	0.116659	0.22887	N	-1.20128013277353	0.04982	0.2260639	-1.31522828661296	0.04233	0.1992294	0.999999979320682	0.74766	0.600919	0.35232	0	0.596877	0.49441	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.51	-8.4	0.00843	-1.046000	0.03635	-2.899000	0.03249	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.516000	0.29383	0.1818:0.2237:0.0898:0.5047	3.302	0.06576	798	0.45050	.	.	.	.	.	.	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	0.017641	0.005051	0.024457	0.020468	0.050000	0.025862	0.009146	0.003817	0.07143	515.53	31	chr1	206932498	.	C	G	515.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.43;DP=225;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.37;ReadPosRankSum=-1.911;SOR=0.665	GT:AD:DP:GQ:PL	0/1:31,24:55:99:526,0,644	6	0	1	0
chr1	211967967	211967967	C	G	exonic	INTS7	.	nonsynonymous SNV	INTS7:NM_001199809:exon14:c.G1878C:p.M626I,INTS7:NM_001199811:exon15:c.G2025C:p.M675I,INTS7:NM_001199812:exon15:c.G2025C:p.M675I,INTS7:NM_015434:exon15:c.G2025C:p.M675I	.	439	1080	3	0	0	3	0.00138696	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197	.	.	0.00179712	0.0016	9.831e-05	8.72e-05	0	0	0	0	0.0115	0.0013454	208	154602	rs372551719	0.0006	0.0006	0.0003	0.0009	0.0096	0.0006	0.0006	0.0091	0.0088	3.07e-05	2.373e-05	0	0	0	0.0005	1.466e-05	0.0006	0.0096	0.0003	0.0003	0.0002	0.0005	0.0100	0.0002	0.0002	0.0077	0.0069	0	0	0	0	0	0	0	1.471e-05	0	0.0100	0.298	0.15201	T	0.544	0.12491	T	0.908	0.50127	P	0.922	0.65739	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.265	0.31966	L	0.97	0.42502	T	-0.06	0.08340	N	0.889	0.90704	-0.9461	0.41632	T	0.191	0.54242	T	10	0.0077798367	0.00177	T	.	.	.	0.197	0.47942	0.276	0.22845	0.360112713275	0.35619	0.5940818070505658	0.59338	0.291448477359	0.31552	0.646333456039	0.59465	T	0.014836	0.12555	T	-0.259948	0.12906	T	-0.138212	0.60274	T	0.0509165299388495	0.05659	T	0.953605	0.82243	D	0.26965144	0.50037	0.15193167	0.35768	0.26965144	0.50037	0.15193167	0.35768	-2.608	0.07062	T	.	.	0.513	0.67631	A	.;.;.;.	.;.;.;.	3.402716	0.47165	22.4	0.99684782110287684	0.79507	0.96610	0.70005	D	AEFDBHCI	0.768471	0.70402	D	0.293575706255489	0.55822	3.746341	0.405038622952016	0.61878	4.394239	0.999999999999242	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.37	5.37	0.76949	5.901000	0.69600	5.950000	0.51632	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	19.107	0.93285	675	0.60470	.;.;.;.	.	.	.	.	.	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	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	307.27	33	chr1	211967967	.	C	G	307.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.259;DP=177;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.78;ReadPosRankSum=1.4;SOR=0.61	GT:AD:DP:GQ:PL	0/1:21,14:35:99:317,0,517	5	0	1	1
chr1	212797191	212797191	C	A	exonic	TATDN3	.	nonsynonymous SNV	TATDN3:NM_001042552:exon4:c.C253A:p.L85I,TATDN3:NM_001042553:exon4:c.C253A:p.L85I,TATDN3:NM_001146169:exon4:c.C253A:p.L85I,TATDN3:NM_001146170:exon4:c.C253A:p.L85I,TATDN3:NM_001146171:exon4:c.C253A:p.L85I,TATDN3:NM_001363589:exon4:c.C253A:p.L85I,TATDN3:NM_001363590:exon4:c.C253A:p.L85I	.	433	1067	22	0	0	22	0.0102041	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.00326930800444	0.0007	0.000798722	0.0018	0	0.0007	0	0	0.0017	0.0011	0.0058	0.0015459	239	154602	rs148528899	0.0010	0.0010	0.0009	0.0011	0.0069	0.0010	0.0009	0.0052	0.0046	2.99e-05	0.0011	0.0201	0	0	0.0069	0.0003	0.0022	0.0043	0.0011	0.0011	0.0012	0.0011	0.0041	0.0010	0.0009	0.0027	0.0023	7.22e-05	0	0.0006	0.0204	0	0	0.0170	0.0008	0.0033	0.0041	0.141	0.27663	T	0.347	0.38160	T	0.009	0.15093	B	0.048	0.24975	B	0.020455	0.27037	N	0.295883	0.996626	0.81001	D	1.795	0.47270	L	.	.	.	-0.81	0.23808	N	0.394	0.50958	-1.0238	0.22476	T	0.152	0.48014	T	9	0.006371498	0.00144	T	0.003269	0.07237	T	0.082	0.23913	.	.	0.0954503805726	0.09146	0.623218878501826	0.62254	0.174648314704	0.19666	0.499033182859	0.38693	T	0.008201	0.16921	T	-0.350873	0.04673	T	-0.275553	0.47257	T	0.0114096309289719	0.00170	T	0.809319	0.48487	T	0.07326356	0.16360	0.0474131	0.06822	0.07326356	0.16359	0.0474131	0.06822	-5.271	0.39933	T	.	.	0.124	0.39562	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.979270	0.25141	16.66	0.97411810932922427	0.33830	0.68581	0.33856	D	AEFBI	0.187202	0.31449	N	-0.214285823766396	0.32546	1.836683	-0.165880246943213	0.32802	1.869798	0.988914815572001	0.31667	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.66	1.81	0.24139	1.819000	0.38660	1.802000	0.28890	-0.177000	0.10537	0.987000	0.36337	0.989000	0.31174	0.995000	0.73285	0.0:0.1646:0.1562:0.6793	4.966	0.13438	844	0.36711	.;.;.;.;.;.;.	.	.	.	.	.	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	0.010101	0.006793	0.005848	0.000000	0.000000	0.000000	0.018939	0.07143	1110.53	33	chr1	212797191	.	C	A	1110.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.203;DP=286;ExcessHet=0;FS=3.865;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.45;ReadPosRankSum=-1.239;SOR=0.373	GT:AD:DP:GQ:PL	0/1:46,51:97:99:1121,0,1058	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	0/1:152,31:183:13:13,0,3293	3	0	3	1
chr1	223112550	223112550	T	G	exonic	TLR5	.	nonsynonymous SNV	TLR5:NM_003268:exon6:c.A482C:p.Y161S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.00640976719799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.127	0.27080	T	0.334	0.18340	T	.	.	.	.	.	.	0.434613	0.04724	N	1.291250	1	0.08975	N	.	.	.	0.67	0.52187	T	0.22	0.04694	N	0.036	0.01577	-0.9750	0.36125	T	0.037	0.15856	T	10	0.06606588	0.09006	T	0.00641	0.16870	T	0.044	0.11924	0.366	0.37361	0.158396225186	0.15383	0.23073472903134848	0.22988	0.0729793403314	0.08176	0.269599676132	0.06089	T	.	.	.	-0.345031	0.05047	T	-0.73339	0.04175	T	0.138979956507683	0.16187	T	0.732627	0.34815	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.00254	B	.;.;.;.	.;.;.;.	0.551406	0.09200	5.982	0.86053432104675953	0.16283	0.06196	0.12181	N	AEFGBI	0.092987	0.18818	N	-1.38130947171505	0.02813	0.1247724	-1.36316290925927	0.03653	0.1708542	0.965331866392023	0.28824	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.03	-8.29	0.00884	-0.397000	0.07329	-0.334000	0.09867	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.951000	0.49849	0.0:0.1845:0.6295:0.186	12.454	0.55031	760	0.50470	.;.;.;.	.	.	.	.	.	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	2051.49	38	chr1	223112550	.	T	G	2051.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.442;DP=363;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.82;ReadPosRankSum=0.231;SOR=0.678	GT:AD:DP:GQ:PL	0/1:75,85:160:99:2062,0,1907	6	0	1	0
chr1	225085608	225085608	A	-	exonic	DNAH14	.	frameshift deletion	DNAH14:NM_001367479:exon21:c.3392delA:p.M1133Cfs*16	.	455	1039	27	1	0	29	0.0137636	.	.	.	2816092	not_provided|DNAH14-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	0.0028	0.00319489	0.0060	0	0.0049	0	0.0018	0.0070	0.0083	0.0078	0.0003074	8	26028	rs555051718	0.0024	0.0023	0.0021	0.0027	0.0130	0.0023	0.0023	0.0106	0.0097	0.0003	0.0028	0.0133	0	0.0010	0.0130	0.0018	0.0035	0.0076	0.0023	0.0023	0.0023	0.0023	0.0079	0.0021	0.0020	0.0059	0.0052	0.0003	0	0.0048	0.0124	0	0.0013	0.0170	0.0022	0.0066	0.0079	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1594.5	33	chr1	225085607	.	GA	G	1594.5	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.749;DP=317;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.18;ReadPosRankSum=-1.589;SOR=0.722	GT:AD:DP:GQ:PL	0/1:60,61:121:99:1605,0,1541	6	0	1	0
chr1	240207756	240207821	CCCGGAGCGGGCATACCCCCTCCTCCCCCACTTCCCGGAGCGGGCATACCCCCTCCGCCCCCACTT	-	exonic	FMN2	.	nonframeshift deletion	FMN2:NM_020066:exon5:c.2944_3009del:p.A1083_G1104del,FMN2:NM_001305424:exon6:c.2956_3021del:p.A1087_G1108del	Mental retardation, autosomal recessive 47, Autosomal recessive	612	898	2	0	10	12	0.00111235	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0171	0.0155	0.0051	0.0004	0.0179	0.0181	0.0172	0.0336	0.0004995	13	26028	.	0.0033	0.0039	0.0033	0.0034	0.0057	0.0033	0.0032	0.0052	0.0050	0.0025	0.0018	0.0026	0.0002	0.0037	0.0041	0.0034	0.0034	0.0057	0.0009	0.0052	0.0008	0.0010	0.0020	0.0007	0.0006	0.0007	0.0006	0.0011	0.0025	0.0007	0.0006	0	0.0003	0	0.0009	0.0012	0.0020	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	259.18	31	chr1	240207755	.	ACCCGGAGCGGGCATACCCCCTCCTCCCCCACTTCCCGGAGCGGGCATACCCCCTCCGCCCCCACTT	A	259.18	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.756;DP=294;ExcessHet=0;FS=1.344;MLEAC=1;MLEAF=0.083;MQ=54.19;MQRankSum=2.16;QD=5.51;ReadPosRankSum=2.66;SOR=0.468	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:37,10:47:99:0|1:240207755_ACCCGGAGCGGGCATACCCCCTCCTCCCCCACTTCCCGGAGCGGGCATACCCCCTCCGCCCCCACTT_A:269,0,1113:240207755	5	0	1	1
chr1	240207775	240207775	C	0	exonic	FMN2	.	.	.	Mental retardation, autosomal recessive 47, Autosomal recessive	746	721	41	8	6	63	0.0380254	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	725.64	31	chr1	240207775	.	C	*	725.64	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.539;DP=243;ExcessHet=0;FS=1.224;MLEAC=1;MLEAF=0.083;MQ=54.17;MQRankSum=2.9;QD=14.51;ReadPosRankSum=2.67;SOR=0.982	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:3,10:21:99:1|0:240207755_ACCCGGAGCGGGCATACCCCCTCCTCCCCCACTTCCCGGAGCGGGCATACCCCCTCCGCCCCCACTT_A:548,166,1031:240207755	5	0	1	1
chr1	240207785	240207785	A	0	exonic	FMN2	.	.	.	Mental retardation, autosomal recessive 47, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	156.39	30	chr1	240207785	.	A	*	156.39	.	AC=1;AF=0.125;AN=8;BaseQRankSum=-0.568;DP=212;ExcessHet=0;FS=2.318;MLEAC=1;MLEAF=0.125;MQ=52.19;MQRankSum=2.18;QD=7.45;ReadPosRankSum=2.67;SOR=0.662	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:3,10:21:99:1|0:240207755_ACCCGGAGCGGGCATACCCCCTCCTCCCCCACTTCCCGGAGCGGGCATACCCCCTCCGCCCCCACTT_A:569,167,903:240207755	3	0	1	3
chr1	240207797	240207797	G	0	exonic	FMN2	.	.	.	Mental retardation, autosomal recessive 47, Autosomal recessive	935	562	18	1	6	26	0.0174825	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	505.09	28	chr1	240207797	.	G	*	505.09	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.01;DP=203;ExcessHet=0;FS=1.253;MLEAC=1;MLEAF=0.083;MQ=51.73;MQRankSum=2.45;QD=11.48;ReadPosRankSum=2.77;SOR=1.068	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:3,10:21:99:1|0:240207755_ACCCGGAGCGGGCATACCCCCTCCTCCCCCACTTCCCGGAGCGGGCATACCCCCTCCGCCCCCACTT_A:613,165,767:240207755	5	0	1	1
chr1	240207800	240207800	C	0	exonic	FMN2	.	.	.	Mental retardation, autosomal recessive 47, Autosomal recessive	888	615	12	1	6	20	0.011254	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	441.09	28	chr1	240207800	.	C	*	441.09	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.13;DP=199;ExcessHet=0;FS=1.237;MLEAC=1;MLEAF=0.083;MQ=50.87;MQRankSum=2.36;QD=10.26;ReadPosRankSum=2.77;SOR=0.998	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:3,10:21:99:1|0:240207755_ACCCGGAGCGGGCATACCCCCTCCTCCCCCACTTCCCGGAGCGGGCATACCCCCTCCGCCCCCACTT_A:616,163,724:240207755	5	0	1	1
chr1	240207806	240207806	C	0	exonic	FMN2	.	.	.	Mental retardation, autosomal recessive 47, Autosomal recessive	1124	331	37	24	6	91	0.113788	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	1153.38	29	chr1	240207806	.	C	*	1153.38	.	AC=1;AF=0.125;AN=8;BaseQRankSum=1.67;DP=188;ExcessHet=0.2119;FS=2.291;MLEAC=1;MLEAF=0.125;MQ=50.53;MQRankSum=2.18;QD=16.02;ReadPosRankSum=-0.788;SOR=1.175	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:3,10:21:99:1|0:240207755_ACCCGGAGCGGGCATACCCCCTCCTCCCCCACTTCCCGGAGCGGGCATACCCCCTCCGCCCCCACTT_A:664,163,657:240207755	3	0	1	3
chr1	240207812	240207812	G	0	exonic	FMN2	.	.	.	Mental retardation, autosomal recessive 47, Autosomal recessive	1181	328	2	3	8	16	0.0120482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	1304.91	25	chr1	240207812	.	G	*	1304.91	.	AC=1;AF=0.1;AN=10;BaseQRankSum=1.27;DP=161;ExcessHet=1.181;FS=0;MLEAC=1;MLEAF=0.1;MQ=53.13;MQRankSum=2.06;QD=16.11;ReadPosRankSum=0.763;SOR=0.793	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:2,10:20:99:1|0:240207755_ACCCGGAGCGGGCATACCCCCTCCTCCCCCACTTCCCGGAGCGGGCATACCCCCTCCGCCCCCACTT_A:677,167,574:240207755	4	0	1	2
chr1	240207818	240207818	A	0	exonic	FMN2	.	.	.	Mental retardation, autosomal recessive 47, Autosomal recessive	1172	344	5	0	1	6	0.00721501	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	365.38	25	chr1	240207818	.	A	*	365.38	.	AC=1;AF=0.125;AN=8;BaseQRankSum=3.15;DP=164;ExcessHet=0;FS=1.226;MLEAC=1;MLEAF=0.125;MQ=50.07;MQRankSum=2.1;QD=8.7;ReadPosRankSum=1.7;SOR=0.95	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:2,10:20:99:1|0:240207755_ACCCGGAGCGGGCATACCCCCTCCTCCCCCACTTCCCGGAGCGGGCATACCCCCTCCGCCCCCACTT_A:762,173,530:240207755	3	0	1	3
chr1	240207821	240207821	T	0	exonic	FMN2	.	.	.	Mental retardation, autosomal recessive 47, Autosomal recessive	1088	429	4	0	1	5	0.00464037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	369.38	25	chr1	240207821	.	T	*	369.38	.	AC=1;AF=0.125;AN=8;BaseQRankSum=-0.773;DP=165;ExcessHet=0;FS=1.151;MLEAC=1;MLEAF=0.125;MQ=50.6;MQRankSum=2.73;QD=7.86;ReadPosRankSum=1.33;SOR=0.499	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:2,10:20:99:1|0:240207755_ACCCGGAGCGGGCATACCCCCTCCTCCCCCACTTCCCGGAGCGGGCATACCCCCTCCGCCCCCACTT_A:762,173,530:240207755	3	0	1	3
chr2	15942167	15942167	T	C	exonic	MYCN	.	nonsynonymous SNV	MYCN:NM_001293228:exon2:c.T103C:p.F35L,MYCN:NM_005378:exon2:c.T103C:p.F35L	Feingold syndrome 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.286	0.044373811311	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.33418	T	0.06	0.45744	T	0.677	0.41330	P	0.518	0.48133	P	0.233754	0.03535	U	3.755950	1	0.81001	D	2.93	0.84523	M	1.49	0.31470	T	-4.1	0.74900	D	0.67	0.67822	-0.9421	0.42282	T	0.176	0.51974	T	10	0.64660263	0.69362	D	0.044374	0.61457	D	0.286	0.60456	0.684	0.82175	0.41089407703	0.40707	0.4334101353106042	0.43258	1.96884443498	0.93542	0.8407330513	0.88206	D	0.437509	0.78351	T	-0.0442364	0.45319	T	-0.301319	0.44585	T	0.985664367675781	0.76591	D	0.693531	0.30321	T	0.50143874	0.67179	0.5116405	0.71780	0.50143874	0.67180	0.5116405	0.71780	-9.153	0.68676	D	0.3311317344439049	0.42914	0.986	0.92555	P	.	.	5.096607	0.85133	28.5	0.99534555378436029	0.70087	0.94185	0.60371	D	AEFDBHCIJ	0.906427	0.85918	D	0.426405536680661	0.62880	4.51126	0.387417004661317	0.60788	4.270449	0.999999999989656	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.52208	0.10781	0	0.618803	0.45993	0	.	.	3.41	3.41	0.38145	7.806000	0.84575	5.954000	0.51702	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	12.154	0.53373	961	0.08552	Transcription regulator Myc, 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	56.44	33	chr2	15942167	.	T	C	56.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-7.841;DP=410;ExcessHet=0;FS=145.313;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=0.26;ReadPosRankSum=2.51;SOR=7.523	GT:AD:DP:GQ:PL	0/1:171,42:213:67:67,0,3760	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	0/1:44,17:61:25:25,0,437	2	0	4	1
chr2	27497574	27497574	G	A	exonic	GCKR	.	nonsynonymous SNV	GCKR:NM_001486:exon3:c.G229A:p.E77K	.	.	.	.	.	.	.	.	.	.	.	2349284	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.197	0.038039092514	.	.	7.414e-05	9.614e-05	0	0.0002	0	7.492e-05	0	6.056e-05	7.76e-05	12	154602	rs771795298	3.835e-05	3.899e-05	4.089e-05	3.579e-05	7.558e-05	3.029e-05	2.722e-05	2.832e-05	2.511e-05	5.981e-05	2.236e-05	0	7.558e-05	0	0	3.782e-05	8.287e-05	3.48e-05	5.917e-05	5.912e-05	6.426e-05	5.383e-05	8.82e-05	3.079e-05	2.211e-05	3.762e-05	2.575e-05	4.831e-05	0	6.546e-05	0	0	0	0	8.82e-05	0	0	0.122	0.27663	T	0.447	0.13066	T	.	.	.	.	.	.	0.049948	0.23115	N	0.384912	1	0.30112	N	.	.	.	-1.19	0.78427	T	-1.3	0.32991	N	0.457	0.49420	-0.6653	0.62041	T	0.255	0.62530	T	10	0.12969956	0.24679	T	0.038039	0.57982	D	0.197	0.47942	.	.	0.711850230672	0.70933	0.337240735832642	0.33637	0.0818096554689	0.09213	0.439296364784	0.30480	T	0.256495	0.62741	T	-0.176857	0.24204	T	-0.266117	0.48211	T	0.0196400757108767	0.00667	T	0.777122	0.41012	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.07937	B	.;.	.;.	2.754873	0.36121	20.2	0.96752305113362547	0.30965	0.48607	0.28245	N	AEFDBI	0.225101	0.34924	N	-0.595036056173321	0.19094	0.996675	-0.553664089679678	0.20709	1.116965	0.999998007997821	0.74766	0.554377	0.28877	0	0.563428	0.19063	0	0.491513	0.07944	0	0.567892	0.33627	0	.	.	4.28	3.4	0.38031	1.808000	0.38550	2.190000	0.31200	-0.128000	0.13240	0.754000	0.29177	0.978000	0.30204	0.369000	0.26088	0.0997:0.0:0.9003:0.0	10.178	0.42126	74	0.96871	.;.	.	.	.	.	.	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	1048.63	33	chr2	27497574	.	G	A	1048.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.677;DP=269;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.34;ReadPosRankSum=0.29;SOR=0.636	GT:AD:DP:GQ:PL	0/1:41,44:85:99:1059,0,910	6	0	1	0
chr2	30787235	30787235	T	C	exonic	CAPN13	.	nonsynonymous SNV	CAPN13:NM_144575:exon2:c.A91G:p.M31V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.00257303341295	.	.	1.07e-05	0	0	0.0001	0	0	0	0	6.5e-06	1	154602	rs756367275	4.794e-06	4.788e-06	5.449e-06	4.131e-06	7.56e-05	1.99e-06	1.28e-06	2.004e-05	1.055e-05	0	0	0	7.56e-05	0	0	2.699e-06	0	1.169e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.207	0.19854	T	0.213	0.26467	T	0.0	0.02946	B	0.0	0.01387	B	0.482788	0.12146	N	0.776377	1	0.08975	N	0	0.06538	N	2.47	0.14783	T	-1.17	0.29933	N	0.08	0.05542	-0.9686	0.37489	T	0.015	0.06042	T	10	0.037073255	0.02040	T	0.002573	0.05178	T	0.014	0.01968	0.23	0.15705	0.0954503805726	0.09146	0.11309105383199278	0.11237	0.0611906365499	0.06815	0.22857286036	0.01864	T	0.012159	0.10734	T	-0.549871	0.00292	T	-0.801926	0.01854	T	0.0405409216770903	0.03789	T	0.205479	0.02425	T	0.076382734	0.17271	0.08091699	0.18347	0.076382734	0.17271	0.08091699	0.18346	-3.453	0.15780	T	.	.	0.069	0.03162	B	.	.	0.071787	0.04800	1.410	0.33980224504605178	0.02054	0.07341	0.13362	N	AEFBI	0.117624	0.23034	N	-1.51095122113582	0.01777	0.07786362	-1.45974774981112	0.02683	0.1238597	0.301330053488955	0.19192	0.638212	0.43195	0	0.59043	0.45803	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.91	-1.42	0.08446	0.051000	0.14025	0.630000	0.20219	-2.600000	0.00235	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.0773:0.5587:0.364	8.751	0.33776	814	0.42100	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	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1144.44	39	chr2	30787235	.	T	C	1144.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.621;DP=300;ExcessHet=0;FS=2.478;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.22;ReadPosRankSum=0.23;SOR=0.477	GT:AD:DP:GQ:PL	0/1:59,53:112:99:1155,0,1523	6	0	1	0
chr2	31344696	31344696	G	A	exonic	XDH	.	nonsynonymous SNV	XDH:NM_000379:exon31:c.C3392T:p.T1131I	Xanthinuria, type I, Autosomal recessive	1	1517	4	0	0	4	0.00131666	.	.	.	1041445	Xanthinuria_type_II	MONDO:MONDO:0011346,MedGen:C1863688,OMIM:603592,Orphanet:3467,Orphanet:93602	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.247	0.0451964212307	.	0.000199681	1.649e-05	0	0	0	0	2.998e-05	0	0	3.88e-05	6	154602	rs550042471	1.642e-05	1.642e-05	1.497e-05	1.788e-05	0.0003	1.111e-05	9.33e-06	6.105e-05	2.662e-05	0	0	0	0	0	0.0003	1.169e-05	3.312e-05	8.116e-05	1.313e-05	1.312e-05	2.569e-05	0	6.539e-05	2.18e-06	8.2e-07	.	.	0	0	6.539e-05	0	0	0	0	1.47e-05	0	0	0.043	0.41364	D	0.064	0.44905	T	0.934	0.52202	P	0.829	0.59562	P	0.000000	0.84330	D	0.047568	0.99997	0.53665	D	2.8	0.81625	M	1.12	0.38718	T	-5.14	0.83292	D	0.563	0.58713	-0.5409	0.67129	T	0.251	0.62073	T	10	0.5834513	0.65978	D	0.045196	0.61862	D	0.247	0.55478	0.653	0.79068	0.822480460658	0.82080	0.667944637026241	0.66732	0.246457987376	0.27182	0.521888971329	0.41892	T	0.169978	0.51756	T	-0.14581	0.28969	T	-0.316772	0.42927	T	0.971083641052246	0.69185	D	0.965103	0.87078	D	0.75230724	0.81002	0.69646376	0.82126	0.75230724	0.81004	0.69646376	0.82127	-8.492	0.64376	D	.	.	0.385	0.58715	A	.	.	4.878643	0.79994	27.2	0.99884984404738897	0.96049	0.96818	0.71104	D	AEFGBI	0.695988	0.65448	D	0.684857509919837	0.78641	6.912493	0.656326261579261	0.79082	7.007906	0.999985617668727	0.51787	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.11	5.11	0.69188	4.577000	0.60633	11.631000	0.93702	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.858000	0.40661	0.0:0.0:1.0:0.0	16.698	0.85200	940	0.13648	Aldehyde oxidase/xanthine dehydrogenase, molybdopterin binding	.	.	.	.	.	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	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	1038.63	34	chr2	31344696	.	G	A	1038.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.942;DP=244;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.22;ReadPosRankSum=-0.371;SOR=0.646	GT:AD:DP:GQ:PL	0/1:39,46:85:99:1049,0,896	6	0	1	0
chr2	54916808	54916808	G	A	exonic	EML6	.	nonsynonymous SNV	EML6:NM_001039753:exon25:c.G3548A:p.C1183Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.534	0.0125066060056	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.152e-06	2.052e-06	0	4.368e-06	2.791e-06	5.7e-07	1.6e-07	7.4e-07	2.1e-07	0	0	0	0	0	0	2.791e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.79402	D	0.996	0.68779	D	0.905	0.64260	P	.	.	.	.	1	0.81001	D	1.905	0.50856	L	1.37	0.34253	T	-6.44	0.91353	D	0.912	0.91391	-0.6722	0.61729	T	0.233	0.59965	T	9	0.8008499	0.79489	D	0.012507	0.31146	T	0.534	0.80426	0.571	0.69431	0.574808824563	0.57149	0.7641115852600686	0.76359	0.753685659022	0.63907	0.879516839981	0.93896	D	0.231045	0.59727	T	0.257612	0.79308	D	0.132265	0.79040	D	0.992529690265656	0.83025	D	0.938306	0.76795	D	0.82800514	0.85764	0.9098664	0.95679	0.82800514	0.85766	0.9098664	0.95679	-10.447	0.76542	D	.	.	0.859	0.80249	P	.	.	5.021973	0.83472	28.1	0.9981633117539559	0.89973	0.99133	0.91711	D	AEFBI	0.840764	0.75802	D	0.845272685856394	0.88838	9.731158	0.834262163412849	0.92065	11.217	0.99999999999799	0.74766	0.549168	0.22868	0	0.55458	0.17659	0	0.618467	0.43123	0	0.616125	0.45549	0	.	.	5.68	5.68	0.88021	8.148000	0.89561	11.785000	0.96215	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:1.0:0.0	20.159	0.98130	467	0.78285	.	.	.	.	.	.	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	1114.46	33	chr2	54916808	.	G	A	1114.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.215;DP=283;ExcessHet=0;FS=4.855;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.13;ReadPosRankSum=0.009;SOR=1.179	GT:AD:DP:GQ:PL	0/1:61,49:110:99:1125,0,1464	6	0	1	0
chr2	64552133	64552133	A	G	exonic	AFTPH	.	nonsynonymous SNV	AFTPH:NM_001002243:exon2:c.A659G:p.N220S,AFTPH:NM_001375969:exon2:c.A659G:p.N220S,AFTPH:NM_001375970:exon2:c.A659G:p.N220S,AFTPH:NM_001375971:exon2:c.A659G:p.N220S,AFTPH:NM_001375972:exon2:c.A659G:p.N220S,AFTPH:NM_001375973:exon2:c.A659G:p.N220S,AFTPH:NM_017657:exon2:c.A659G:p.N220S,AFTPH:NM_203437:exon2:c.A659G:p.N220S	.	433	1088	1	0	0	1	0.000459348	.	.	.	2393610	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.060	0.00417972860493	.	.	8.284e-06	0	0	0	0	0	0	6.078e-05	6.5e-06	1	154602	rs781685888	2.394e-05	2.394e-05	1.361e-05	3.438e-05	0.0026	1.739e-05	1.539e-05	0.0016	0.0013	2.987e-05	0	0	0	0	0.0026	1.799e-06	4.967e-05	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.461	0.08710	T	0.508	0.10893	T	0.005	0.12996	B	0.004	0.10090	B	0.419782	0.12886	N	0.745082	0.99931	0.21372	N	1.95	0.52479	M	1.88	0.23884	T	-0.75	0.21003	N	0.015	0.03283	-0.9745	0.36235	T	0.025	0.10866	T	10	0.04491043	0.03501	T	0.00418	0.10058	T	0.060	0.17295	.	.	0.311241185304	0.30733	0.03543934406028981	0.03490	0.0736240990023	0.08253	0.282308340073	0.07816	T	0.001158	0.00660	T	-0.479459	0.00745	T	-0.722886	0.04658	T	0.0259577319711268	0.01399	T	0.830117	0.49576	T	0.0294156	0.02432	0.018658053	0.00062	0.0294156	0.02431	0.018658053	0.00062	-2.398	0.05120	T	.	.	0.062	0.04396	B	.;.;.	.;.;.	0.682422	0.10509	7.223	0.5879814744387144	0.06075	0.56339	0.30092	D	AEBI	0.048108	0.08173	N	-0.594257779808397	0.19117	0.9980887	-0.383325997088739	0.25494	1.402333	0.93040819823986	0.27007	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.613276	0.41899	0	.	.	5.78	3.37	0.37692	0.431000	0.21163	1.801000	0.28882	0.691000	0.84096	0.991000	0.37257	0.682000	0.26126	0.993000	0.69303	0.6637:0.0:0.2055:0.1308	4.890	0.13080	788	0.46569	.;.;.	.	.	.	.	.	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	1459.53	35	chr2	64552133	.	A	G	1459.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.298;DP=300;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.26;ReadPosRankSum=-0.736;SOR=0.664	GT:AD:DP:GQ:PL	0/1:60,59:119:99:1470,0,1456	6	0	1	0
chr2	73081095	73081095	-	TCC	exonic	RAB11FIP5	.	nonframeshift insertion	RAB11FIP5:NM_001371272:exon4:c.2136_2137insGGA:p.G712_R713insG	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003842	10	26028	rs551578436	0.0032	0.0026	0.0031	0.0032	0.0179	0.0031	0.0031	0.0141	0.0127	0.0037	0.0026	0.0020	0.0042	0.0013	0.0179	0.0029	0.0041	0.0114	0.0033	0.0032	0.0034	0.0031	0.0087	0.0030	0.0029	0.0066	0.0058	0.0035	0	0.0026	0.0023	0.0040	0.0017	0.0069	0.0031	0.0039	0.0087	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	248.12	8	chr2	73081095	.	T	TTCC	248.12	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.319;DP=54;ExcessHet=0.4139;FS=2.276;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=19.09;ReadPosRankSum=1.65;SOR=0.654	GT:AD:DP:GQ:PL	0/1:3,5:8:99:192,0,108	5	0	1	1
chr2	73448563	73448563	A	G	exonic	ALMS1	.	nonsynonymous SNV	ALMS1:NM_001378454:exon8:c.A2036G:p.Y679C,ALMS1:NM_015120:exon8:c.A2036G:p.Y679C	Alstrom syndrome, Autosomal recessive	1	1512	7	2	0	11	0.00362438	.	.	YES	207019	Cardiovascular_phenotype|not_specified|Monogenic_diabetes|Alstrom_syndrome|not_provided	MedGen:CN230736|MedGen:CN169374|MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625|MONDO:MONDO:0008763,MedGen:C0268425,OMIM:203800,Orphanet:64|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.191	0.00472583065026	0.0019	0.000798722	0.0016	0.0004	0.0005	0	0.0008	0.0021	0.0011	0.0023	0.0016753	259	154602	rs199573929	0.0025	0.0025	0.0025	0.0025	0.0029	0.0024	0.0024	0.0028	0.0028	0.0004	0.0004	3.828e-05	2.52e-05	0.0006	0.0007	0.0029	0.0017	0.0028	0.0015	0.0015	0.0016	0.0014	0.0027	0.0013	0.0013	0.0022	0.0021	0.0006	0.0033	0.0007	0	0	0.0004	0	0.0025	0.0009	0.0027	.	.	.	0.109	0.37589	T	.	.	.	.	.	.	0.664740	0.10396	N	0.821953	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.573	0.59648	-1.0407	0.17101	T	0.064	0.26491	T	10	0.015712231	0.00330	T	0.004726	0.11753	T	.	.	.	.	0.214338557667	0.21045	0.19394353760193353	0.19312	.	.	0.383184611797	0.22708	T	0.037831	0.24619	T	-0.218648	0.18177	T	-0.0845151	0.64573	T	0.0355078923168753	0.02896	T	0.507849	0.16117	T	0.058439568	0.11757	0.049581744	0.07607	0.058439568	0.11756	0.049581744	0.07607	-6.795	0.52522	T	.	.	0.113	0.22171	B	.;.;.	.;.;.	1.267483	0.16661	12.68	0.97187471934253267	0.32749	0.07874	0.13865	N	AEFBI	0.042849	0.06699	N	-0.517791218083216	0.21505	1.141729	-0.793688910764403	0.14650	0.7665409	0.899721521882538	0.26058	0.562547	0.31514	0	0.546412	0.12157	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	4.11	-3.56	0.04330	-0.105000	0.10876	-4.647000	0.02052	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.3048:0.2808:0.0:0.4145	5.059	0.13883	491	0.76657	.;.;.	.	.	.	.	.	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	1201.44	77	chr2	73448563	.	A	G	1201.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.06;DP=588;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.69;ReadPosRankSum=0.499;SOR=0.659	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:78,46:124:99:0|1:73448542_T_G:1212,0,2044:73448542	6	0	1	0
chr2	74428306	74428306	T	C	exonic	RTKN	.	nonsynonymous SNV	RTKN:NM_001015055:exon9:c.A1048G:p.T350A,RTKN:NM_001015056:exon9:c.A898G:p.T300A,RTKN:NM_033046:exon10:c.A1009G:p.T337A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	0.0123381833161	.	0.000599042	3.295e-05	9.61e-05	0	0	0	4.495e-05	0	0	5.17e-05	8	154602	rs184760564	1.847e-05	1.847e-05	2.178e-05	1.513e-05	0.0005	1.265e-05	1.084e-05	0.0001	0.0001	0.0003	0	0	2.519e-05	0	0.0005	6.295e-06	9.934e-05	1.159e-05	1.97e-05	1.968e-05	0	4.027e-05	7.216e-05	5.24e-06	2.45e-06	1.913e-05	1.03e-05	7.216e-05	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.027981	0.25672	N	0.418688	0.999999	0.08975	N	0.05	0.08135	N	-0.93	0.75215	T	1.56	0.00702	N	0.094	0.07535	-0.9332	0.43665	T	0.089	0.34408	T	10	0.010817587	0.00239	T	0.012338	0.30825	T	0.079	0.23065	.	.	0.52186301387	0.51830	0.2336192512231364	0.23276	0.238704075767	0.26421	0.291917800903	0.09201	T	0.159479	0.50293	T	-0.425464	0.01579	T	-0.612257	0.11802	T	0.00778980757270366	0.00091	T	0.637136	0.25071	T	0.033584792	0.03606	0.028284088	0.01050	0.033584792	0.03606	0.028284088	0.01050	-3.42	0.17929	T	.	.	0.059	0.00780	B	.;.;.	.;.;.	-0.922184	0.00889	0.032	0.79788329297198801	0.12901	0.03880	0.09249	N	AEFBCI	0.063894	0.12375	N	-1.27169572396529	0.04020	0.1806893	-1.26702566955901	0.04883	0.2314524	0.99999833563159	0.74766	0.67177	0.52595	0	0.708844	0.79440	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	4.84	-4.23	0.03530	-0.442000	0.06943	-1.499000	0.05301	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.912000	0.44740	0.292:0.38:0.0:0.3281	3.990	0.09024	523	0.74147	.;Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology 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	1741.49	33	chr2	74428306	.	T	C	1741.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.396;DP=344;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.75;ReadPosRankSum=-0.649;SOR=0.7	GT:AD:DP:GQ:PL	0/1:85,77:162:99:1752,0,2004	6	0	1	0
chr2	84624296	84624296	G	A	exonic	DNAH6	.	nonsynonymous SNV	DNAH6:NM_001370:exon27:c.G4103A:p.G1368D	.	438	1080	4	0	0	4	0.00184843	.	.	.	3244185	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.341	0.0499356089134	.	.	4.639e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs756700279	5.077e-05	4.857e-05	2.963e-05	7.249e-05	0.0005	4.104e-05	3.767e-05	0.0003	0.0003	0	2.808e-05	0	2.802e-05	0	0.0004	2.503e-05	5.171e-05	0.0005	0.0001	0.0001	0.0001	0.0002	0.0004	9.155e-05	7.709e-05	7.299e-05	3.032e-05	0	0.0164	6.558e-05	0	0	0	0	2.94e-05	0.0005	0.0004	0.063	0.36709	T	.	.	.	0.781	0.44300	P	0.334	0.42203	B	.	.	.	.	0.999949	0.51968	D	3.155	0.88459	M	-0.08	0.63911	T	-3.52	0.68412	D	0.529	0.56833	-0.3635	0.73159	T	0.295	0.66650	T	9	0.016208142	0.00341	T	0.049936	0.64027	D	0.341	0.66297	0.414	0.45216	0.622847267328	0.61978	0.5950417445498997	0.59434	0.238441029153	0.26390	0.573921978474	0.49231	T	0.050848	0.28712	T	-0.153431	0.27775	T	-0.0928702	0.63945	T	0.24354260529077	0.22581	T	0.788921	0.42853	T	0.4749162	0.65591	0.5644087	0.74790	0.4749162	0.65591	0.5644087	0.74791	-6.889	0.53218	T	.	.	0.146	0.32251	B	.;.	.;.	3.968976	0.58269	24.0	0.99746989670124009	0.83927	0.99734	0.99061	D	AEFI	0.929478	0.91530	D	0.630768609464418	0.75129	6.251795	0.672811647332521	0.80320	7.272708	0.999994629617168	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.38	5.38	0.77279	3.802000	0.55256	11.804000	0.96737	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	17.891	0.88790	700	0.57880	.;.	.	.	.	.	.	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	1283.46	33	chr2	84624296	.	G	A	1283.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.042;DP=259;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.65;ReadPosRankSum=-0.621;SOR=0.688	GT:AD:DP:GQ:PL	0/1:30,52:82:99:1294,0,667	6	0	1	0
chr2	85401608	85401608	C	T	exonic	CAPG	.	nonsynonymous SNV	CAPG:NM_001256139:exon4:c.G272A:p.R91Q,CAPG:NM_001256140:exon4:c.G272A:p.R91Q,CAPG:NM_001320732:exon4:c.G272A:p.R91Q,CAPG:NM_001320733:exon4:c.G272A:p.R91Q,CAPG:NM_001320734:exon4:c.G272A:p.R91Q,CAPG:NM_001747:exon4:c.G272A:p.R91Q	.	345	1175	2	0	0	2	0.00085034	.	.	.	2350946	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.097	0.00675875808644	7.7e-05	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs371246622	2.736e-05	2.736e-05	2.723e-05	2.75e-05	0.0003	2.063e-05	1.816e-05	0.0002	0.0001	0.0003	0	0	0	7.493e-05	0.0003	1.529e-05	9.935e-05	1.159e-05	3.285e-05	3.283e-05	3.853e-05	2.69e-05	0.0001	1.261e-05	7.98e-06	4.739e-05	3.053e-05	0.0001	0	0	0	0	0	0	0	0	0	0.327	0.22400	T	0.511	0.13953	T	0.609	0.39586	P	0.025	0.20508	B	0.000147	0.49130	D	0.184247	0.765684	0.34698	D	0.865	0.21413	L	0.49	0.55775	T	-0.6	0.18042	N	0.121	0.21188	-0.8756	0.50105	T	0.127	0.43339	T	10	0.18697086	0.34186	T	0.006759	0.17868	T	0.097	0.27909	.	.	0.367425347029	0.36354	0.3648453252557219	0.36398	0.199365988557	0.22332	0.447899281979	0.31656	T	0.094619	0.39453	T	-0.165507	0.25917	T	-0.392651	0.34241	T	0.214567628026853	0.21189	T	0.912709	0.75551	D	0.121604174	0.28593	0.06777021	0.14065	0.121604174	0.28593	0.06777021	0.14065	-5.346	0.43291	T	.	.	0.082	0.10739	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.340935	0.66595	25.0	0.99788561818573818	0.87484	0.49277	0.28396	N	AEFBI	0.463377	0.51232	N	0.117743417711327	0.47292	2.956862	0.216178300910761	0.50743	3.263306	0.999999974528301	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.80507	0.99327	0	0.714379	0.83352	0	.	.	5.87	5.87	0.94266	1.531000	0.35624	5.922000	0.51181	0.599000	0.40250	0.182000	0.24089	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	15.703	0.77318	879	0.29470	Gelsolin-like domain;.;Gelsolin-like domain;Gelsolin-like domain;Gelsolin-like domain;Gelsolin-like domain;Gelsolin-like domain;Gelsolin-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	.	.	.	.	.	.	.	.	0.07143	1527.45	35	chr2	85401608	.	C	T	1527.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.514;DP=320;ExcessHet=0;FS=2.416;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.06;ReadPosRankSum=1.52;SOR=0.488	GT:AD:DP:GQ:PL	0/1:54,63:117:99:1538,0,1328	6	0	1	0
chr2	88087998	88087998	G	A	exonic	SMYD1	.	nonsynonymous SNV	SMYD1:NM_001330364:exon3:c.G451A:p.V151M,SMYD1:NM_198274:exon3:c.G451A:p.V151M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.380	0.114665158942	7.7e-05	0.000399361	0.0002	0.0006	0.0010	0	0	1.504e-05	0	0.0003	0.0001682	26	154602	rs144495632	6.43e-05	6.43e-05	6.942e-05	5.913e-05	0.0005	5.361e-05	4.976e-05	0.0004	0.0003	0.0004	0.0004	0	2.519e-05	0	0	8.093e-06	9.935e-05	0.0005	9.192e-05	9.185e-05	6.423e-05	0.0001	0.0006	5.523e-05	4.361e-05	0.0002	8.989e-05	0.0001	0	0.0003	0	0.0002	0	0	0	0	0.0006	0.008	0.58626	D	0.004	0.74150	D	1.0	0.90584	D	0.94	0.67560	D	0.000026	0.55875	D	0.121235	0.999997	0.81001	D	1.44	0.36004	L	-1.5	0.81318	D	-1.51	0.36787	N	0.259	0.31478	0.048	0.83208	D	0.570	0.84440	D	10	0.13631558	0.25936	T	0.114665	0.79359	D	0.380	0.69780	.	.	0.869781384212	0.86851	0.6220589442689816	0.62138	0.290956997048	0.31498	0.518037080765	0.41350	T	0.163478	0.50854	T	-0.183527	0.23212	T	-0.171399	0.57315	T	0.038173712261251	0.03362	T	0.781022	0.41604	T	0.27001575	0.50073	0.35635233	0.61147	0.27001575	0.50073	0.35635233	0.61147	-5.555	0.42379	T	.	.	0.261	0.49654	B	.;.	.;.	4.194546	0.63243	24.6	0.99899131202473845	0.97124	0.87940	0.47658	D	AEFDBHCI	0.643799	0.62028	D	0.543956925970662	0.69715	5.396483	0.540638366213474	0.70747	5.551061	0.996625742756846	0.34876	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.82	4.82	0.61641	3.037000	0.49465	.	.	-0.108000	0.15293	1.000000	0.71638	1.000000	0.68203	0.972000	0.54974	0.0:0.0:1.0:0.0	17.235	0.86880	970	0.06235	SET domain|SET domain|SET domain;SET domain|SET domain|SET 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	1971.44	39	chr2	88087998	.	G	A	1971.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.05;DP=443;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.32;ReadPosRankSum=-0.204;SOR=0.66	GT:AD:DP:GQ:PL	0/1:68,80:148:99:1982,0,1574	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|1:259,34:293:99:0|1:94876587_C_A:648,0,10649:94876587	1	0	6	0
chr2	94876599	94876599	C	T	exonic	TEKT4	.	stopgain	TEKT4:NM_001286559:exon6:c.C592T:p.R198X,TEKT4:NM_144705:exon6:c.C1138T:p.R380X	.	433	945	144	0	0	144	0.0707965	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000199681	1.007e-05	0	0	0	0	0	0	7.452e-05	1.29e-05	2	154602	rs545808608	1.37e-05	1.573e-05	1.227e-05	1.515e-05	0.0002	8.95e-06	7.27e-06	1.586e-05	9.32e-06	2.988e-05	2.241e-05	0	0	0	0.0002	8.097e-06	6.627e-05	4.654e-05	1.971e-05	1.969e-05	0	4.03e-05	0.0002	5.24e-06	2.45e-06	.	.	2.406e-05	0	0	0	0	0	0	1.47e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	0.450852	0.12509	N	0.736301	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.036	0.01068	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.471834	0.93405	D	0.439981	0.93322	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	7.228656	0.96291	35	0.97017541695677512	0.32010	0.24513	0.22417	N	AEFDGBI	0.102425	0.20547	N	0.0223710035112601	0.42872	2.591521	-0.371233761802137	0.25859	1.424696	0.00857241372916873	0.11701	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.562822	0.20929	0	.	.	2.43	-4.85	0.02911	0.076000	0.14570	1.506000	0.26990	0.302000	0.18967	0.898000	0.31380	0.817000	0.27092	0.256000	0.23417	0.7115:0.2885:0.0:0.0	8.126	0.30157	.	.	.	.	.	.	.	.	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	595.24	167	chr2	94876599	.	C	T	595.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.64;DP=1477;ExcessHet=0.3476;FS=6.91;MLEAC=2;MLEAF=0.143;MQ=56.66;MQRankSum=-13.35;QD=0.98;ReadPosRankSum=-2.5;SOR=1.337	GT:AD:DP:GQ:PL	0/1:289,40:329:99:214,0,11895	5	0	2	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|1:310,76:386:99:0|1:94876587_C_A:2258,0,12788:94876587	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|1:327,96:423:99:0|1:94876587_C_A:3006,0,13440:94876587	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	0/1:373,110:483:99:.:.:3434,0,15178:.	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	0/1:362,124:486:99:.:.:4055,0,14677:.	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	0/1:348,88:436:99:2038,0,8827	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|1:374,56:430:99:0|1:94876737_C_A:1165,0,15361:94876737	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|1:365,53:418:99:0|1:94876737_C_A:1121,0,15113:94876737	2	0	5	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	0/1:183,72:255:99:1676,0,4923	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	0/1:178,272:450:99:6133,0,4216	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	0/1:176,155:331:99:4829,0,4414	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	0/1:229,78:307:99:1607,0,8797	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	0/1:182,122:304:99:3916,0,4806	1	0	6	0
chr2	95855996	95855996	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5363G:p.E1788G	.	423	1084	14	1	0	16	0.00732601	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	.	.	.	0.0017	0.0001	0.0002	0	0	0.0002	0.0012	0.0107	0.0001921	5	26028	rs2696787	0.0007	0.0007	0.0003	0.0011	0.0110	0.0007	0.0007	0.0104	0.0101	8.965e-05	2.251e-05	0	2.521e-05	0	0.0021	3.78e-05	0.0005	0.0110	0.0004	0.0004	0.0002	0.0006	0.0097	0.0003	0.0003	0.0075	0.0067	0.0002	0	0	0	0	0	0	7.35e-05	0.0005	0.0097	0.112	0.28900	T	0.408	0.14633	T	.	.	.	.	.	.	.	.	.	.	0.995364	0.23308	N	.	.	.	2.09	0.20122	T	-4.86	0.81187	D	0.181	0.19593	-0.9967	0.30838	T	0.058	0.24428	T	7	0.006890267	0.00156	T	.	.	.	0.104	0.29647	0.253	0.19223	0.151104730317	0.14643	0.021129201139812	0.02065	.	.	.	.	.	0.035255	0.23648	T	-0.295655	0.09077	T	-0.662465	0.08101	T	0.080917304577518	0.10104	T	0.457154	0.13128	T	0.08334489	0.19243	0.12760116	0.30714	0.08334489	0.19242	0.12760116	0.30713	-4.849	0.35157	T	.	.	0.048	0.00092	B	.	.	-0.441265	0.02063	0.189	0.69784133236065948	0.09083	0.42437	0.26877	N	AEFI	0.058147	0.10887	N	-1.0493760508998	0.07599	0.3535858	-1.22677742986635	0.05483	0.2613858	2.23717983239869E-5	0.03498	0.562547	0.31514	0	0.653731	0.59785	0	0.565031	0.19037	0	0.636168	0.56350	0	.	.	1.87	-2.64	0.05757	1.295000	0.32983	-0.329000	0.09904	-3.365000	0.00092	1.000000	0.71638	0.000000	0.08366	0.001000	0.02609	0.1817:0.1381:0.0:0.6802	4.150	0.09698	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	.	.	.	.	.	.	.	.	0.07143	2574.44	35	chr2	95855996	.	T	C	2574.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.613;DP=440;ExcessHet=0;FS=6.564;MLEAC=1;MLEAF=0.071;MQ=56.51;MQRankSum=-3.888;QD=11.05;ReadPosRankSum=0.528;SOR=1.107	GT:AD:DP:GQ:PL	0/1:129,104:233:99:2585,0,3361	6	0	1	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	0/1:61,9:70:99:154,0,2485	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|1:82,28:110:99:0|1:95859969_A_AT:909,0,3359:95859969	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|1:83,28:111:99:0|1:95859969_A_AT:906,0,3381:95859969	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|1:83,28:111:99:0|1:95859969_A_AT:906,0,3381:95859969	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	0/1:81,25:106:99:806,0,1994	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|1:82,22:104:99:0|1:95860002_T_A:677,0,3341:95860002	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|1:81,19:100:99:0|1:95860002_T_A:554,0,3315:95860002	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|1:70,18:88:99:0|1:95860020_G_A:545,0,2864:95860020	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|1:70,14:84:99:0|1:95860020_G_A:377,0,2876:95860020	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	0/1:60,8:68:99:156,0,1687	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|1:120,31:151:99:0|1:95927222_G_GAT:940,0,4945:95927222	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|1:127,42:169:99:0|1:95927222_G_GAT:1381,0,5206:95927222	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|1:140,54:194:99:0|1:95927222_G_GAT:1846,0,5716:95927222	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|1:166,102:268:99:0|1:95927222_G_GAT:3783,0,6663:95927222	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|1:187,142:329:99:0|1:95927222_G_GAT:5298,0,7380:95927222	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|1:197,148:345:99:0|1:95927222_G_GAT:5399,0,7561:95927222	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|1:135,61:196:99:0|1:95929092_T_C:1991,0,5423:95929092	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|1:148,68:216:99:0|1:95929092_T_C:2410,0,6010:95929092	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|1:161,92:253:99:0|1:95929092_T_C:3378,0,6483:95929092	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|1:166,96:262:99:0|1:95929092_T_C:3531,0,6681:95929092	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|1:167,98:265:99:0|1:95929092_T_C:3599,0,6694:95929092	0	0	7	0
chr2	97185337	97185337	C	-	exonic	ANKRD36	.	frameshift deletion	ANKRD36:NM_001354587:exon29:c.1961delC:p.S655Qfs*12	.	498	735	288	1	0	290	0.164773	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1402796432	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	1449.44	53	chr2	97185336	.	GC	G	1449.44	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-0.298;DP=592;ExcessHet=8.2628;FS=4.126;MLEAC=6;MLEAF=0.429;MQ=47.3;MQRankSum=-4.911;QD=2.72;ReadPosRankSum=-0.416;SOR=0.472	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:100,16:116:99:0|1:97185336_GC_G:371,0,4151:97185336	1	0	6	0
chr2	97185340	97185340	C	G	exonic	ANKRD36	.	stopgain	ANKRD36:NM_001354587:exon29:c.C1964G:p.S655X	.	497	736	288	1	0	290	0.164586	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs961387199	6.861e-07	2.052e-06	1.365e-06	0	2.527e-05	0	0	.	.	0	0	0	2.527e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.055	0.02658	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.289078	0.09729	T	-0.653017	0.08744	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant;Tolerant	High;High	2.985359	0.39833	21.0	0.68029575050880731	0.08533	0.00253	0.01392	N	AEFI	0.017170	0.00433	N	-0.957463532196475	0.09526	0.4512341	-1.36962598911469	0.03580	0.1672776	1.88742451027402E-5	0.02871	0.651	0.46895	0	0.633656	0.55848	0	0.670488	0.60580	0	0.683762	0.67416	0	.	.	1.06	-2.12	0.06766	-0.027000	0.12319	-1.673000	0.04942	-4.347000	0.00032	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.3106:0.2305:0.0:0.4589	1.483	0.02294	216	0.91608	.;.	.	.	.	.	.	Uncertain significance	1	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	1427.48	54	chr2	97185340	.	C	G	1427.48	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-0.163;DP=596;ExcessHet=8.2628;FS=2.936;MLEAC=6;MLEAF=0.429;MQ=47.07;MQRankSum=-4.73;QD=2.65;ReadPosRankSum=0.212;SOR=0.473	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:101,16:117:99:0|1:97185336_GC_G:368,0,4193:97185336	1	0	6	0
chr2	97185341	97185341	-	G	exonic	ANKRD36	.	frameshift insertion	ANKRD36:NM_001354587:exon29:c.1965_1966insG:p.K656Efs*5	.	498	735	288	1	0	290	0.164773	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1297719451	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	1421.44	55	chr2	97185341	.	A	AG	1421.44	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-0.101;DP=598;ExcessHet=8.2628;FS=2.924;MLEAC=6;MLEAF=0.429;MQ=46.99;MQRankSum=-4.73;QD=2.63;ReadPosRankSum=0.2;SOR=0.479	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:101,16:117:99:0|1:97185336_GC_G:368,0,4193:97185336	1	0	6	0
chr2	97185346	97185349	TAAT	-	splicing	ANKRD36	.	.	.	.	500	739	281	2	0	285	0.161656	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1368364794	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	1417.44	57	chr2	97185345	.	GTAAT	G	1417.44	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-0.295;DP=624;ExcessHet=8.2628;FS=5.664;MLEAC=6;MLEAF=0.429;MQ=46.33;MQRankSum=-4.278;QD=2.5;ReadPosRankSum=0.674;SOR=0.586	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:108,18:126:99:0|1:97185336_GC_G:390,0,4436:97185336	1	0	6	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|1:101,85:186:99:0|1:97513219_T_C:3265,0,3985:97513219	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|1:107,90:197:99:0|1:97513219_T_C:3457,0,4222:97513219	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|1:127,108:235:99:0|1:97513244_G_T:4152,0,4987:97513244	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|1:131,114:245:99:0|1:97513244_G_T:4392,0,5158:97513244	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|1:131,114:245:99:0|1:97513244_G_T:4392,0,5158:97513244	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|1:136,120:256:99:0|1:97513268_C_T:4609,0,5329:97513268	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	0/1:150,106:256:99:.:.:2129,0,5687:.	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|1:136,123:259:99:0|1:97513268_C_T:4711,0,5320:97513268	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|1:137,121:258:99:0|1:97513268_C_T:4584,0,5327:97513268	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	0/1:86,48:134:99:979,0,2095	0	0	7	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	1|0:0,83:185:99:1|0:108259008_AAAACTTGGTCAGGTGATGTTAT_A:6396,3157,4117:108259008	0	3	4	0
chr2	108767182	108767182	C	G	exonic	RANBP2	.	nonsynonymous SNV	RANBP2:NM_006267:exon20:c.C6643G:p.P2215A	.	.	.	.	.	.	.	.	.	.	.	365493	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.040	0.00394964116308	.	.	4.202e-05	0.0001	8.688e-05	0	0	4.583e-05	0	0	3.84e-05	1	26028	rs775798185	2.535e-05	4.309e-05	3.136e-05	1.928e-05	8.984e-05	1.87e-05	1.633e-05	2.381e-05	1.431e-05	8.984e-05	6.709e-05	0	0	3.744e-05	0	1.889e-05	4.983e-05	5.803e-05	2.628e-05	2.626e-05	2.569e-05	2.69e-05	4.826e-05	8.14e-06	5.14e-06	8e-06	2.99e-06	4.826e-05	0	0	0	0	0	0	2.94e-05	0	0	0.416	0.09958	T	0.459	0.12632	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999965	0.18878	N	0.345	0.11182	N	1.83	0.24841	T	-1.64	0.39314	N	0.09	0.06854	-0.9694	0.37324	T	0.022	0.09147	T	9	0.043234944	0.03151	T	0.00395	0.09337	T	0.040	0.10527	0.196	0.10839	0.193917141947	0.19028	0.2309071010697257	0.23005	0.339808001112	0.35931	0.293872952461	0.09491	T	0.269668	0.64188	T	-0.430367	0.01475	T	-0.619301	0.11239	T	0.0125494816398467	0.00208	T	0.672333	0.28093	T	0.0260625	0.01617	0.03246135	0.01986	0.0260625	0.01617	0.03246135	0.01985	-2.608	0.06564	T	0.051310640584313776	0.00932	0.057	0.00583	B	.	.	0.462742	0.08323	5.073	0.55394647819266307	0.05333	0.16177	0.19267	N	AEFBI	0.053811	0.09728	N	-1.08972081876837	0.06831	0.3156088	-1.00846424590017	0.09598	0.4784522	0.986469892709175	0.31068	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.4	1.21	0.20240	0.986000	0.29190	0.644000	0.20348	0.599000	0.40250	0.383000	0.26031	0.006000	0.19429	0.325000	0.25087	0.1018:0.4937:0.2322:0.1723	3.675	0.07824	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	349.44	46	chr2	108767182	.	C	G	349.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=10.3;DP=706;ExcessHet=0;FS=41.954;MLEAC=1;MLEAF=0.071;MQ=43.9;MQRankSum=-5.881;QD=0.73;ReadPosRankSum=-1.492;SOR=5.022	GT:AD:DP:GQ:PL	0/1:432,47:479:99:360,0,10958	6	0	1	0
chr2	120346189	120346189	A	G	exonic	INHBB	.	startloss	INHBB:NM_002193:exon1:c.A1G:p.M1?	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.427	0.996940963317	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.115	0.26429	B	0.013	0.16460	B	0.018453	0.27480	U	0.205916	1	0.81001	D	.	.	.	-1.25	0.79072	T	-0.45	0.14782	N	0.628	0.64223	-0.6637	0.62113	T	0.266	0.63727	T	9	0.9828981	0.98395	D	0.996941	0.99994	D	0.427	0.73445	0.999	0.99990	0.97087608739	0.97056	0.3328121226306212	0.33194	.	.	.	.	.	0.279428	0.65211	T	0.17812	0.71870	D	0.0180802	0.71506	D	0.891197085380554	0.54211	D	0.9	0.65058	D	0.78114855	0.82725	0.62484825	0.78134	0.78114855	0.82726	0.62484825	0.78135	-9.279	0.69475	D	.	.	.	.	.	.	.	2.947104	0.39199	20.9	0.91610639985195386	0.20894	0.03590	0.08812	N	AEFDBCIJ	0.010969	0.00088	N	-0.640443545543785	0.17739	0.9153591	-0.673966179264197	0.17612	0.9373236	0.9999983217983	0.74766	0.495885	0.18260	0	0.491552	0.07993	0	0.616487	0.41570	0	0.526665	0.08891	0	.	.	2.37	2.37	0.28337	0.502000	0.22302	.	.	0.517000	0.23534	0.999000	0.42656	1.000000	0.68203	0.488000	0.28746	0.7525:0.0:0.0:0.2475	5.514	0.16185	706	0.57215	.	.	.	.	.	.	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	30.39	2	chr2	120346189	.	A	G	30.39	.	AC=1;AF=0.125;AN=8;BaseQRankSum=-1.383;DP=14;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.125;MQ=60;MQRankSum=0;QD=7.6;ReadPosRankSum=0;SOR=0.105	GT:AD:DP:GQ:PL	0/1:2,2:4:37:37,0,70	3	0	1	3
chr2	121285070	121285070	G	T	exonic	TFCP2L1	.	nonsynonymous SNV	TFCP2L1:NM_014553:exon1:c.C40A:p.H14N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	0.42230635562	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.458e-06	2.736e-06	2.89e-06	0	3.237e-05	2.4e-07	9e-08	.	.	0	0	0	3.237e-05	0	0	9.341e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.529	0.07048	T	0.507	0.10930	T	0.204	0.29802	B	0.046	0.24676	B	0.005741	0.32555	N	0.250541	0.693839	0.33353	D	1.245	0.31408	L	2.32	0.16640	T	-0.18	0.09796	N	0.433	0.47208	-1.0143	0.25561	T	0.028	0.12058	T	10	0.1782785	0.32905	T	0.422306	0.93818	D	0.070	0.20419	0.154	0.05752	0.27064940482	0.26676	0.385706514522809	0.38485	0.56917265543	0.53102	0.916976451874	0.98084	D	0.028424	0.20594	T	-0.233673	0.16167	T	-0.573432	0.15137	T	0.197452560067177	0.20274	T	0.572243	0.20426	T	0.084016	0.19426	0.12683268	0.30540	0.084016	0.19426	0.12683268	0.30539	-3.031	0.10519	T	.	.	0.061	0.01109	B	.	.	4.369120	0.67248	25.1	0.70988446390185245	0.09478	0.80499	0.40120	D	AEFDBHCI	0.515665	0.54253	D	-0.817317078866463	0.12868	0.6300559	-0.712725505931687	0.16644	0.8814599	0.999999981324131	0.74766	0.59774	0.34471	0	0.541168	0.11318	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	4.36	2.55	0.29757	4.772000	0.62019	9.491000	0.80895	0.578000	0.29377	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.1486:0.0:0.8514:0.0	10.948	0.46525	967	0.07127	.	.	.	.	.	.	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	759.46	18	chr2	121285070	.	G	T	759.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.592;DP=190;ExcessHet=0;FS=2.481;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.5;ReadPosRankSum=0.643;SOR=0.407	GT:AD:DP:GQ:PL	0/1:18,31:49:99:770,0,353	6	0	1	0
chr2	121736754	121736754	T	C	exonic	NIFK	.	nonsynonymous SNV	NIFK:NM_032390:exon1:c.A97G:p.I33V	.	419	1071	32	0	0	32	0.0147194	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.00365381184315	0.0005	0.00219649	0.0011	0	0.0011	0	0	0.0012	0.0022	0.0024	0.0010543	163	154602	rs150674424	0.0008	0.0008	0.0006	0.0009	0.0127	0.0007	0.0007	0.0103	0.0095	0.0003	0.0019	0.0003	0	3.744e-05	0.0127	0.0006	0.0016	0.0021	0.0006	0.0006	0.0005	0.0007	0.0021	0.0005	0.0005	0.0012	0.0011	0.0002	0	0.0018	0	0.0002	0	0.0068	0.0005	0.0028	0.0021	0.78	0.22920	T	0.72	0.35082	T	0.001	0.07471	B	0.001	0.04355	B	0.919597	0.08496	N	0.962951	1	0.08975	N	0	0.06538	N	2.38	0.15843	T	0.0	0.12661	N	0.05	0.02179	-0.9671	0.37794	T	0.021	0.09009	T	10	0.00405547	0.00079	T	0.003654	0.08402	T	0.015	0.02232	.	.	0.340510301474	0.33666	0.21560032084306935	0.21476	0.0938221672316	0.10595	0.281098932028	0.07646	T	0.012792	0.11182	T	-0.701879	0.00036	T	-0.787144	0.02244	T	0.0225315469418144	0.00969	T	0.318868	0.10241	T	0.032420773	0.03264	0.033643756	0.02295	0.032420773	0.03264	0.033643756	0.02294	-3.715	0.19540	T	.	.	0.073	0.33179	B	.;.	.;.	0.992886	0.13709	10.25	0.76246405758181179	0.11391	0.00590	0.02647	N	ALL	0.019555	0.00689	N	-1.20663186720539	0.04901	0.2222544	-1.28291433113126	0.04661	0.2203831	0.99999999999498	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	3.3	-0.361	0.11939	0.123000	0.15536	0.233000	0.16214	0.490000	0.22344	0.006000	0.17386	0.000000	0.08366	0.041000	0.14368	0.0:0.4952:0.2008:0.304	3.592	0.07540	818	0.41518	.;RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif 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	0.013171	0.030612	0.005450	0.032164	0.000000	0.008621	0.009317	0.003817	0.07143	809.83	33	chr2	121736754	.	T	C	809.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.045;DP=245;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.94;ReadPosRankSum=-0.601;SOR=0.614	GT:AD:DP:GQ:PL	0/1:39,35:74:99:820,0,928	6	0	1	0
chr2	127057480	127057480	G	C	exonic	BIN1	.	nonsynonymous SNV	BIN1:NM_001320641:exon11:c.C1031G:p.P344R,BIN1:NM_139347:exon11:c.C1031G:p.P344R,BIN1:NM_139348:exon11:c.C1031G:p.P344R,BIN1:NM_001320640:exon12:c.C1124G:p.P375R,BIN1:NM_001320642:exon12:c.C1043G:p.P348R,BIN1:NM_139343:exon12:c.C1124G:p.P375R,BIN1:NM_139346:exon12:c.C1076G:p.P359R	Myopathy, centronuclear, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1326370	Myopathy,_centronuclear,_2|not_provided	MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200,Orphanet:169186|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.343	0.133611964768	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.78490	D	0.052	0.63918	T	0.993	0.90584	D	0.937	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.895	0.83812	M	1.17	0.55608	T	-6.95	0.93475	D	0.58	0.78546	-0.4310	0.71034	T	0.323	0.69212	T	10	0.6239728	0.68137	D	0.133612	0.81600	D	0.343	0.66488	0.291	0.25241	0.817751426059	0.81603	0.6317577599021794	0.63109	0.940450297406	0.72188	0.787007808685	0.79988	T	0.65375	0.89525	D	0.171912	0.71299	D	0.00916363	0.70929	D	0.993876159191132	0.84863	D	0.948405	0.83523	D	0.70922375	0.78565	0.70377296	0.82540	0.70922375	0.78566	0.70377296	0.82541	-16.225	0.98078	D	0.6776583254216104	0.75360	0.501	0.80861	A	.;.;.;.	.;.;.;.	4.738564	0.76397	26.5	0.99865648199799839	0.94366	0.99765	0.99303	D	AEFDBI	0.884570	0.81437	D	0.812070727867823	0.86855	9.021382	0.812633446474509	0.90658	10.50839	0.999999999992452	0.74766	0.706548	0.73137	0	0.633656	0.55848	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.47	5.47	0.80345	8.991000	0.93075	11.750000	0.95386	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	18.102	0.89436	968	0.07033	.;.;.;.	.	.	.	.	.	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	1731.45	37	chr2	127057480	.	G	C	1731.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.599;DP=404;ExcessHet=0;FS=1.098;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.49;ReadPosRankSum=-0.241;SOR=0.639	GT:AD:DP:GQ:PL	0/1:119,85:204:99:1742,0,2774	6	0	1	0
chr2	130463126	130463126	C	T	exonic	POTEI	.	nonsynonymous SNV	POTEI:NM_001277406:exon15:c.G2918A:p.G973D,POTEI:NM_001371926:exon17:c.G2984A:p.G995D	.	17	1462	43	0	0	43	0.0144928	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.429	.	.	0.00599042	0.0862	0	0.25	.	.	0.2	.	0.5	0.0005304	82	154602	rs199773105	0.0061	0.0069	0.0059	0.0063	0.0137	0.0060	0.0059	0.0109	0.0100	0.0009	0.0043	0.0036	0.0002	0.0011	0.0137	0.0065	0.0055	0.0104	0.0055	0.0039	0.0059	0.0049	0.0149	0.0050	0.0048	0.0098	0.0081	0.0007	0.0294	0.0060	0.0051	0.0005	0.0017	0.0105	0.0082	0.0079	0.0149	0.0	0.91255	D	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	0.841103	0.28629	N	4.35	0.98464	H	-4.35	0.97292	D	-5.12	0.83157	D	0.345	0.38643	0.818	0.94632	D	0.966	0.98910	D	6	0.004136771	0.00081	T	.	.	.	0.429	0.73590	.	.	0.314716216878	0.31082	0.08182548998098027	0.08117	.	.	0.573933362961	0.49232	T	0.758635	0.93444	D	-0.104878	0.35615	T	0.0765659	0.75348	D	0.190866874594274	0.19896	T	0.966903	0.87955	D	0.7161771	0.78949	0.6736337	0.80842	0.7161771	0.78951	0.6736337	0.80843	-11.571	0.82699	D	.	.	0.459	0.62665	A	.	.	2.451597	0.31569	18.78	0.99168820127336643	0.54326	0.81478	0.40873	D	AEFI	0.302231	0.41053	N	-0.00528454834388875	0.41614	2.492382	-0.324298975982863	0.27316	1.514877	9.32829367166945E-4	0.08027	0.693126	0.56070	0	0.659464	0.62310	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	.	.	.	5.533000	0.66873	.	.	0.171000	0.17763	1.000000	0.71638	0.987000	0.30940	0.194000	0.21720	0.0:0.9992:0.0:8.0E-4	5.905	0.18235	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	.	.	.	.	.	.	.	.	0.08333	351.27	24	chr2	130463126	.	C	T	351.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.1;DP=213;ExcessHet=0;FS=5.056;MLEAC=1;MLEAF=0.083;MQ=33.9;MQRankSum=-0.94;QD=4.81;ReadPosRankSum=-1.521;SOR=1.426	GT:AD:DP:GQ:PL	0/1:50,23:73:99:361,0,1015	5	0	1	1
chr2	131480177	131480177	G	A	exonic	TUBA3D	.	nonsynonymous SNV	TUBA3D:NM_080386:exon4:c.G484A:p.G162S	.	31	1432	57	2	0	61	0.0208547	.	.	.	4008681	Keratoconus_9	MONDO:MONDO:0054771,MedGen:C4693660,OMIM:617928	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.372	0.013739532995	.	.	2.472e-05	9.612e-05	0	0	0	1.499e-05	0	6.058e-05	0.0001153	3	26028	rs773370954	5.424e-05	0.0007	4.779e-05	6.076e-05	0.0002	4.426e-05	4.097e-05	6.541e-05	4.469e-05	2.995e-05	4.502e-05	0	0.0002	3.8e-05	0	5.229e-05	4.987e-05	8.182e-05	0.0008	0.0088	0.0007	0.0009	0.0015	0.0007	0.0006	0.0007	0.0006	0.0010	0	0.0008	0	0.0015	0.0008	0	0.0007	0	0.0012	.	.	.	0.091	0.40110	T	.	.	.	.	.	.	0.000245	0.46924	U	0.000000	0.999796	0.49177	D	.	.	.	-0.38	0.69027	T	-4.18	0.75537	D	0.746	0.74553	-0.2061	0.77514	T	0.388	0.74253	T	10	0.7384015	0.74784	D	0.01374	0.33370	T	0.372	0.69102	.	.	0.623070239186	0.62000	0.5752379090799399	0.57452	.	.	0.8098269701	0.83465	D	.	.	.	0.0175173	0.54047	T	-0.212614	0.53445	T	0.334729466173626	0.26414	T	.	.	.	0.075779326	0.17095	0.19444855	0.43068	0.075779326	0.17095	0.19444855	0.43067	-9.435	0.70454	D	.	.	0.400	0.59555	A	.	.	5.110224	0.85422	28.6	0.99004400112898183	0.50231	0.94335	0.60838	D	AEFI	0.783927	0.71476	D	0.195489865158393	0.50981	3.283248	0.123047658734254	0.45732	2.831043	0.895999281917701	0.25967	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	2.24	2.24	0.27264	8.479000	0.90273	.	.	0.318000	0.19305	1.000000	0.71638	1.000000	0.68203	0.970000	0.54328	0.0:0.0:1.0:0.0	10.151	0.41966	940	0.13648	Tubulin/FtsZ, GTPase domain|Tubulin/FtsZ, GTPase 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	0.010053	0.035354	0.000000	0.004098	0.000000	0.000000	0.015244	0.003788	0.1429	526.26	37	chr2	131480177	.	G	A	526.26	.	AC=2;AF=0.143;AN=14;BaseQRankSum=7.29;DP=827;ExcessHet=0.3476;FS=50.593;MLEAC=2;MLEAF=0.143;MQ=52.55;MQRankSum=-8.364;QD=1.16;ReadPosRankSum=-0.64;SOR=6.121	GT:AD:DP:GQ:PL	0/1:219,25:244:61:61,0,5726	5	0	2	0
chr2	151363987	151363987	T	C	exonic	TNFAIP6	.	nonsynonymous SNV	TNFAIP6:NM_007115:exon2:c.T139C:p.Y47H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.611	0.0900216906981	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	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	3.34	0.90961	M	2.48	0.14657	T	-4.57	0.78721	D	0.858	0.85449	-0.5289	0.67583	T	0.174	0.51753	T	10	0.9293065	0.92272	D	0.090022	0.75438	D	0.611	0.84773	0.788	0.91068	0.276482976112	0.27267	0.964103209716908	0.96397	1.02953252697	0.75381	0.709608197212	0.68536	T	0.18826	0.54211	T	0.248905	0.78500	D	0.119758	0.78220	D	0.997978746891022	0.92901	D	0.849215	0.53152	T	0.8802075	0.89684	0.8683413	0.92751	0.8802075	0.89685	0.8683413	0.92752	-9.291	0.69551	D	.	.	0.775	0.76152	P	.	.	4.818817	0.78469	26.9	0.99828046148392202	0.91026	0.95498	0.64960	D	ALL	0.886700	0.81831	D	0.898162527442995	0.91668	11.00231	0.79909335759734	0.89730	10.09701	1.0	0.98316	0.615465	0.37627	0	0.552344	0.17405	0	0.658983	0.55881	0	0.526803	0.08958	0	.	.	5.85	5.85	0.93663	7.380000	0.78983	.	.	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.968000	0.53726	0.0:0.0:0.0:1.0	16.228	0.82137	788	0.46569	Link domain|Link domain|Link domain|Link 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	1317.63	34	chr2	151363987	.	T	C	1317.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.375;DP=309;ExcessHet=0;FS=2.199;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.83;ReadPosRankSum=2.24;SOR=0.914	GT:AD:DP:GQ:PL	0/1:76,58:134:99:1328,0,1801	6	0	1	0
chr2	157300796	157300796	G	C	exonic	GALNT5	.	nonsynonymous SNV	GALNT5:NM_014568:exon7:c.G2236C:p.V746L,GALNT5:NM_001329868:exon8:c.G826C:p.V276L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.108	0.0226965696406	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	0.25355	T	0.379	0.16037	T	0.007	0.14184	B	0.004	0.10090	B	0.363794	0.13630	N	0.683467	0.881673	0.35764	D	-0.235	0.03917	N	-0.6	0.71662	T	-0.94	0.25118	N	0.191	0.20925	-0.8605	0.51227	T	0.165	0.50225	T	10	0.29929036	0.47482	T	0.022697	0.45612	T	0.108	0.30607	0.437	0.48993	0.690687513823	0.68803	0.8156125274880176	0.81517	0.112406469208	0.12689	0.460697472095	0.33406	T	0.004956	0.04374	T	-0.0992707	0.36546	T	-0.380372	0.35679	T	0.884763658046722	0.53503	D	0.881012	0.60027	D	0.1555269	0.35145	0.16437683	0.38081	0.1555269	0.35145	0.16437683	0.38080	-8.495	0.64396	D	.	.	0.290	0.52194	B	.	.	4.042985	0.59869	24.2	0.99122729470190019	0.53037	0.94066	0.60009	D	AEFBI	0.597577	0.59131	D	-0.155404768038086	0.35004	2.005231	0.0661507289367439	0.42860	2.599872	0.999957938740973	0.48110	0.516011	0.20929	0	0.610034	0.51514	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.39	4.31	0.50718	6.717000	0.74524	7.474000	0.59184	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0836:0.0:0.9164:0.0	14.688	0.68676	571	0.70397	.	.	.	.	.	.	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	1750.44	33	chr2	157300796	.	G	C	1750.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.04;DP=352;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.61;ReadPosRankSum=1.02;SOR=0.733	GT:AD:DP:GQ:PL	0/1:92,73:165:99:1761,0,2306	6	0	1	0
chr2	159350063	159350063	C	T	exonic	BAZ2B	.	nonsynonymous SNV	BAZ2B:NM_001289975:exon27:c.G4400A:p.S1467N,BAZ2B:NM_001329857:exon28:c.G4346A:p.S1449N,BAZ2B:NM_001329858:exon28:c.G4433A:p.S1478N,BAZ2B:NM_013450:exon28:c.G4508A:p.S1503N	.	431	977	111	3	0	117	0.0564944	.	.	.	719335	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.084	.	0.0019	0.00738818	0.0080	0.0003	0.0025	0.0002	0	0.0028	0.0167	0.0440	0.0069145	1069	154602	rs143966878	0.0045	0.0045	0.0029	0.0060	0.0460	0.0044	0.0043	0.0448	0.0443	0.0002	0.0023	0.0039	0.0001	7.488e-05	0.0279	0.0017	0.0054	0.0460	0.0030	0.0030	0.0023	0.0037	0.0456	0.0028	0.0027	0.0407	0.0388	0.0004	0	0.0031	0.0046	0.0002	9.418e-05	0.0136	0.0021	0.0052	0.0456	0.327	0.13262	T	0.439	0.13365	T	0.0	0.12183	B	0.001	0.06944	B	0.114738	0.19263	U	0.365080	0.994617	0.23480	N	1.01	0.25309	L	3.27	0.06602	T	-0.06	0.07882	N	0.109	0.09490	-0.9856	0.33687	T	0.010	0.03765	T	10	0.0018053651	0.00024	T	.	.	.	0.084	0.24469	.	.	0.15499578495	0.15088	0.2681369963440382	0.26726	0.0366816850506	0.03882	0.305863142014	0.11283	T	0.01094	0.09820	T	-0.687278	0.00043	T	-0.726423	0.04491	T	0.00321575579987019	0.00034	T	0.846915	0.52723	T	0.039753538	0.05547	0.044830933	0.05896	0.039753538	0.05546	0.044830933	0.05896	-3.934	0.22948	T	.	.	0.076	0.05890	B	.;.	.;.	2.952919	0.39297	20.9	0.91316774009537693	0.20578	0.71095	0.34867	D	AEFDGBCI	0.086729	0.17585	N	-0.306285464823662	0.28908	1.598527	-0.0733311059405021	0.36497	2.124746	0.999999826993591	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.87	4.99	0.65942	1.077000	0.30353	2.750000	0.34528	0.599000	0.40250	0.972000	0.34453	0.782000	0.26788	0.944000	0.48669	0.0:0.6678:0.1496:0.1827	6.597	0.21871	550	0.72197	.;.	.	.	.	.	.	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	0.016616	0.000000	0.016304	0.014620	0.000000	0.008621	0.009146	0.049242	0.1429	5598.24	41	chr2	159350063	.	C	T	5598.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.861;DP=623;ExcessHet=0.3476;FS=0.529;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=12.12;ReadPosRankSum=0.271;SOR=0.764	GT:AD:DP:GQ:PL	0/1:139,115:254:99:2869,0,3620	5	0	2	0
chr2	159885282	159885282	C	A	exonic	LY75;LY75-CD302	.	nonsynonymous SNV	LY75-CD302:NM_001198759:exon6:c.G925T:p.A309S,LY75-CD302:NM_001198760:exon6:c.G925T:p.A309S,LY75:NM_002349:exon6:c.G925T:p.A309S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.0251764340781	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.369	0.13971	T	0.876	0.04168	T	0.075	0.24198	B	0.047	0.24832	B	0.084076	0.20717	N	0.252121	1	0.08975	N	-0.14	0.04484	N	0.63	0.53088	T	0.51	0.02945	N	0.166	0.18103	-1.0198	0.23780	T	0.034	0.14726	T	10	0.03737825	0.02089	T	0.025176	0.48158	D	0.041	0.10877	0.326	0.30873	0.0986583533028	0.09354	0.3361491059307356	0.34719	0.0478853256955	0.05220	.	.	.	0.018554	0.14935	T	-0.225243	0.17283	T	-0.561323	0.16252	T	0.163926362991333	0.18157	T	0.608739	0.23025	T	0.16355187	0.36505	0.0704292	0.14962	0.16355187	0.36505	0.0704292	0.14962	-2.533	0.06011	T	.	.	0.067	0.04159	B	.;.;.	.;.;.	0.464993	0.08349	5.097	0.73431280546152633	0.10325	0.02963	0.07801	N	AEFBI	0.038244	0.05383	N	-1.23102653126506	0.04556	0.2058557	-1.21887398515519	0.05606	0.2676236	6.04285500241317E-4	0.07437	0.706548	0.73137	0	0.724815	0.89359	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.77	-3.57	0.04316	-0.642000	0.05524	-1.519000	0.05257	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.962000	0.52141	0.2596:0.214:0.093:0.4335	1.606	0.02523	621	0.65931	.;.;C-type lectin-like|C-type lectin-like|C-type lectin-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	475.83	33	chr2	159885282	.	C	A	475.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.534;DP=203;ExcessHet=0;FS=2.544;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.81;ReadPosRankSum=-1.011;SOR=0.395	GT:AD:DP:GQ:PL	0/1:21,23:44:99:486,0,499	6	0	1	0
chr2	162288184	162288184	T	C	exonic	IFIH1	.	nonsynonymous SNV	IFIH1:NM_022168:exon5:c.A1046G:p.K349R	Aicardi-Goutieres syndrome 7, Autosomal dominant;Singleton-Merten syndrome 1, Autosomal dominant	423	1081	17	1	0	19	0.0087116	.	.	.	516633	Aicardi-Goutieres_syndrome_7|Singleton-Merten_syndrome_1|not_specified|Immunodeficiency_95|not_provided|IFIH1-related_disorder	MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846,Orphanet:51|MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250,Orphanet:85191|MedGen:CN169374|MONDO:MONDO:0030692,MedGen:C5676929,OMIM:619773|MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.039	.	0.0014	0.00319489	0.0035	0.0002	0.0012	0.0002	0	0.0013	0.0011	0.0197	0.0030918	478	154602	rs72650664	0.0026	0.0026	0.0021	0.0032	0.0198	0.0026	0.0025	0.0190	0.0187	0.0002	0.0010	0	0.0001	0	0.0056	0.0017	0.0026	0.0198	0.0018	0.0018	0.0016	0.0019	0.0213	0.0016	0.0015	0.0180	0.0167	0.0004	0	0.0025	0	0	9.42e-05	0.0068	0.0016	0.0005	0.0213	0.318	0.13654	T	0.442	0.13252	T	0.345	0.33546	B	0.195	0.36592	B	0.000439	0.44522	D	0.283615	0.862363	0.35411	D	0.435	0.12660	N	0.59	0.53943	T	-0.88	0.23808	N	0.187	0.20395	-0.8860	0.49273	T	0.117	0.41275	T	10	0.0059061646	0.00132	T	.	.	.	0.039	0.10176	.	.	0.713835922619	0.71132	0.2978720611958331	0.29700	0.0240516948503	0.02442	0.348664283752	0.17725	T	0.07048	0.33971	T	-0.463956	0.00928	T	-0.424281	0.30586	T	0.019399027718068	0.00645	T	0.740726	0.36032	T	0.15416744	0.34909	0.24077097	0.49458	0.21934694	0.44464	0.27207413	0.53114	-5.922	0.45622	T	0.1792702559365503	0.23016	0.070	0.04932	B	.;.;.	.;.;.	2.599599	0.33743	19.43	0.99713461923194302	0.81493	0.87483	0.47037	D	AEFBI	0.340597	0.43736	N	0.0140602945220666	0.42495	2.561443	0.202967507889714	0.50013	3.197745	0.999781443330021	0.43007	0.706548	0.73137	0	0.724815	0.89359	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	5.96	5.96	0.96695	2.325000	0.43499	1.945000	0.29852	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	16.445	0.83760	594	0.68584	Helicase/UvrB, N-terminal|Helicase superfamily 1/2, ATP-binding domain|Helicase superfamily 1/2, ATP-binding domain;Helicase/UvrB, N-terminal|Helicase superfamily 1/2, ATP-binding domain|Helicase superfamily 1/2, ATP-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	0	0	1	0	0.007049	0.000000	0.002717	0.005848	0.000000	0.000000	0.003049	0.018939	0.07143	1355.46	36	chr2	162288184	.	T	C	1355.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.786;DP=289;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.59;ReadPosRankSum=-1.012;SOR=0.65	GT:AD:DP:GQ:PL	0/1:57,60:117:99:1366,0,1315	6	0	1	0
chr2	162318079	162318079	G	A	exonic	IFIH1	.	nonsynonymous SNV	IFIH1:NM_022168:exon1:c.C229T:p.R77W	Aicardi-Goutieres syndrome 7, Autosomal dominant;Singleton-Merten syndrome 1, Autosomal dominant	425	1088	9	0	0	9	0.00411899	.	.	.	690840	IFIH1-related_disorder|Aicardi-Goutieres_syndrome_7|Singleton-Merten_syndrome_1|Basal_ganglia_calcification,_idiopathic,_childhood-onset|not_provided	.|MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846,Orphanet:51|MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250,Orphanet:85191|MONDO:MONDO:0007247,MedGen:C1861967,OMIM:114100,Orphanet:51|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.064	0.0202241411949	0.0004	0.000998403	0.0008	0	0	0.0030	0	0.0008	0	0.0013	0.0007438	115	154602	rs147278787	0.0007	0.0007	0.0006	0.0007	0.0028	0.0006	0.0006	0.0024	0.0023	5.974e-05	4.472e-05	0	0.0028	5.618e-05	0.0014	0.0006	0.0007	0.0012	0.0004	0.0004	0.0004	0.0004	0.0021	0.0003	0.0003	0.0012	0.0009	4.811e-05	0	0	0	0.0021	0	0	0.0006	0	0.0010	0.002	0.72154	D	0.002	0.79402	D	0.998	0.73220	D	0.72	0.55529	P	0.106257	0.19623	N	0.527045	1	0.08975	N	2.74	0.80084	M	3.41	0.05574	T	-2.2	0.76496	N	0.318	0.35832	-1.0852	0.06371	T	0.031	0.13242	T	10	0.0058715343	0.00131	T	0.020224	0.42769	T	0.064	0.18567	.	.	0.610390267789	0.60725	0.5014091761855959	0.50062	0.140614320253	0.15858	0.290052473545	0.08930	T	0.245722	0.61507	T	-0.490527	0.00645	T	-0.47949	0.24501	T	0.10718718500282	0.13129	T	0.858314	0.58582	D	0.11100291	0.26234	0.09653028	0.22940	0.11100291	0.26233	0.09653028	0.22939	-7.691	0.58945	D	0.2342744088711641	0.31715	0.139	0.35056	B	.;.;.;.	.;.;.;.	2.152980	0.27425	17.46	0.99858909068011814	0.93729	0.08574	0.14484	N	AEFDGBHCI	0.155917	0.28119	N	-0.209086342422667	0.32760	1.851202	-0.409202670556046	0.24727	1.355694	0.999999969020962	0.74766	0.652421	0.48094	0	0.52208	0.09955	0	0.64067	0.45733	0	0.71	0.69187	0	.	.	5.43	0.562	0.16476	-0.060000	0.11669	0.359000	0.17556	-0.111000	0.15049	0.000000	0.06391	0.000000	0.08366	0.310000	0.24737	0.0721:0.0802:0.6214:0.2263	8.820	0.34182	547	0.72440	Caspase recruitment domain;Caspase recruitment 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	0.000000	0.002924	0.000000	0.000000	0.003049	0.003788	0.07143	2681.46	34	chr2	162318079	.	G	A	2681.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.027;DP=361;ExcessHet=0;FS=8.385;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.19;ReadPosRankSum=1.18;SOR=0.538	GT:AD:DP:GQ:PL	0/1:82,107:189:99:2692,0,1913	6	0	1	0
chr2	177552492	177552492	T	G	exonic	TTC30B	.	nonsynonymous SNV	TTC30B:NM_152517:exon1:c.A272C:p.K91T	.	423	1090	9	0	0	9	0.00411147	.	.	.	2232176	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.617	0.175424827557	0.0006	0.000399361	0.0007	0.0001	0.0003	0	0	0.0010	0.0011	0.0011	0.0006209	96	154602	rs200432024	0.0006	0.0006	0.0006	0.0007	0.0070	0.0006	0.0006	0.0053	0.0047	5.984e-05	0.0007	0.0061	0	3.777e-05	0.0070	0.0005	0.0010	0.0009	0.0005	0.0005	0.0006	0.0005	0.0012	0.0004	0.0004	0.0005	0.0005	7.213e-05	0	0.0003	0.0052	0	0	0.0034	0.0007	0.0014	0.0012	0.005	0.63226	D	0.024	0.56640	D	0.952	0.54136	P	0.703	0.54270	P	0.000000	0.84330	D	0.086462	0.999973	0.53665	D	2.98	0.85499	M	-1.18	0.78314	T	-4.43	0.77554	D	0.494	0.52740	-0.1432	0.79086	T	0.481	0.80165	T	10	0.0171265	0.00364	T	0.175425	0.85151	D	0.617	0.85091	.	.	0.832929549343	0.83133	0.5255672061873368	0.52480	0.759124871029	0.64150	0.805206000805	0.82757	D	0.104277	0.41370	T	-0.0276229	0.47760	T	0.147012	0.79994	D	0.11528528894566	0.13963	T	0.969603	0.89085	D	0.683055	0.77134	0.5904931	0.76239	0.683055	0.77136	0.5904931	0.76240	-11.676	0.83237	D	.	.	0.655	0.71120	P	.	.	4.679510	0.74868	26.2	0.99698062928155939	0.80453	0.86202	0.45438	D	ALL	0.511593	0.54016	D	0.398867258693785	0.61362	4.336133	0.354479298320251	0.58779	4.050538	0.999999999984976	0.74766	0.266657	0.04791	1	0.218748	0.04544	0	0.519653	0.09787	0	0.621717	0.48901	0	.	.	4.56	3.4	0.38031	4.315000	0.58963	7.241000	0.57901	0.656000	0.54149	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0787:0.0:0.9213	10.267	0.42642	821	0.40814	.	.	.	.	.	.	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	0.002518	0.000000	0.006793	0.002924	0.000000	0.000000	0.003049	0.000000	0.07143	1483.83	46	chr2	177552492	.	T	G	1483.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.22;DP=480;ExcessHet=0;FS=0.707;MLEAC=1;MLEAF=0.071;MQ=57.75;MQRankSum=-0.113;QD=13.25;ReadPosRankSum=-0.105;SOR=0.829	GT:AD:DP:GQ:PL	0/1:53,59:112:99:1494,0,1353	6	0	1	0
chr2	178450414	178450414	-	AAGGTCCCACTGTCCTCGCGCTCCAGCGGCGGGGCCTCGGCGGTGCCTGCTCTGGGACAGGGCGAGAAGGGACGGCT	exonic	PRKRA	.	stopgain	PRKRA:NM_001139517:exon1:c.29_30insAGCCGTCCCTTCTCGCCCTGTCCCAGAGCAGGCACCGCCGAGGCCCCGCCGCTGGAGCGCGAGGACAGTGGGACCTT:p.C10*	Dystonia 16, Autosomal recessive	1	1390	34	0	97	131	0.0120824	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.942e-05	4.241e-05	3.131e-05	2.751e-05	5.397e-06	2.217e-05	1.97e-05	1.94e-06	1.28e-06	0	0	3.826e-05	0	0.0007	0	5.397e-06	1.656e-05	0	0.0020	0.0032	0.0019	0.0020	0.0029	0.0018	0.0017	0.0018	0.0015	0.0019	0.0044	0.0024	0.0020	0.0015	0.0023	0	0.0018	0.0033	0.0029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	3979.4	34	chr2	178450414	.	G	GAAGGTCCCACTGTCCTCGCGCTCCAGCGGCGGGGCCTCGGCGGTGCCTGCTCTGGGACAGGGCGAGAAGGGACGGCT	3979.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=5.55;DP=540;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.88;ReadPosRankSum=-5.103;SOR=0.676	GT:AD:DP:GQ:PL	0/1:198,111:309:99:3990,0,7926	6	0	1	0
chr2	178610171	178610171	A	C	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon99:c.T24160G:p.F8054V,TTN:NM_133432:exon100:c.T24535G:p.F8179V,TTN:NM_133437:exon100:c.T24736G:p.F8246V,TTN:NM_133378:exon220:c.T43651G:p.F14551V,TTN:NM_001256850:exon221:c.T46432G:p.F15478V,TTN:NM_001267550:exon271:c.T51355G:p.F17119V	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	1	1519	2	0	0	2	0.000657895	.	.	.	238471	Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|not_specified|Tibial_muscular_dystrophy|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Early-onset_myopathy_with_fatal_cardiomyopathy|Hypertrophic_cardiomyopathy_9|Cardiovascular_phenotype|not_provided	MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MedGen:CN169374|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MONDO:MONDO:0013412,MedGen:C1861065,OMIM:613765|MedGen:CN230736|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.522	0.0378997002766	8.3e-05	.	0.0001	0	0	0	0	7.499e-05	0	0.0007	0.0001035	16	154602	rs370696020	3.696e-05	3.694e-05	3.269e-05	4.128e-05	0.0004	2.896e-05	2.594e-05	0.0003	0.0002	0	0	0	0	0	0.0002	1.98e-05	0	0.0004	1.972e-05	1.969e-05	0	4.034e-05	0.0002	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.944e-05	0	0.0002	0.005	0.65419	D	.	.	.	1.0	0.90584	D	0.998	0.88582	D	.	.	.	.	1	0.81001	D	2.23	0.63091	M	0.43	0.56772	T	-5.57	0.86608	D	0.55	0.74826	-0.2913	0.75229	T	0.349	0.71297	T	9	0.25526506	0.42917	T	0.038	0.57897	D	0.522	0.79704	.	.	0.608970947243	0.60582	.	.	0.527804686519	0.50380	0.731197714806	0.71682	T	.	.	.	-0.111839	0.34466	T	-0.0704647	0.65593	T	0.243913738824623	0.22598	T	0.925008	0.72455	D	.	.	.	.	.	.	.	.	-8.454	0.69121	D	.	.	0.977	0.90519	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.526836	0.49461	22.8	0.8694200803040395	0.16878	0.98928	0.88751	D	AEFGBI	0.935260	0.92985	D	0.850765963865775	0.89152	9.855246	0.82528976348416	0.91495	10.91523	0.999999916551783	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	5.48	5.48	0.80675	9.268000	0.94851	.	.	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	15.578	0.76153	414	0.81871	.;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.;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	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	2350.53	33	chr2	178610171	.	A	C	2350.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.484;DP=397;ExcessHet=0;FS=1.678;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.14;ReadPosRankSum=-1.819;SOR=0.57	GT:AD:DP:GQ:PL	0/1:105,106:211:99:2361,0,2602	6	0	1	0
chr2	181678582	181678582	C	G	exonic	NEUROD1	.	nonsynonymous SNV	NEUROD1:NM_002500:exon2:c.G279C:p.K93N	Maturity-onset diabetes of the young 6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.582	0.26666140162	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.008	0.67890	D	0.992	0.64738	D	0.917	0.65306	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.36	0.67893	M	-3.89	0.95984	D	-3.93	0.73267	D	0.133	0.12913	0.970	0.96706	D	0.899	0.96635	D	10	0.46495566	0.59513	T	0.266661	0.89719	D	0.582	0.83193	0.204	0.11936	0.981752576465	0.98155	0.3507142746384394	0.34985	1.39719179774	0.85110	0.736429929733	0.72447	T	0.82509	0.95764	D	0.0536061	0.58806	T	-0.160775	0.58282	T	0.984899401664734	0.76055	D	0.852015	0.53695	D	0.75474715	0.81145	0.70367765	0.82535	0.75474715	0.81146	0.70367765	0.82536	-11.457	0.82105	D	0.5535140685958624	0.62186	0.985	0.92305	P	.	.	5.011938	0.83234	28.0	0.99857391532379614	0.93639	0.00500	0.02358	N	AEFBHCI	0.756727	0.69590	D	0.604673102786654	0.73471	5.971292	0.580451642377621	0.73538	5.987081	0.999966982596455	0.48965	0.59774	0.34471	0	0.563428	0.19063	0	0.616487	0.41570	0	0.63947	0.58350	0	.	.	6.16	5.28	0.74118	1.359000	0.33717	5.999000	0.52457	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.7863:0.1412:0.0725	9.838	0.40151	854	0.34840	.	.	.	.	.	.	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	283.23	61	chr2	181678582	.	C	G	283.23	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.888;DP=490;ExcessHet=0;FS=282.361;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=2.16;ReadPosRankSum=2.39;SOR=7.784	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:96,35:131:99:.:.:293,0,2838:.	5	0	1	1
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	0/1:35,23:58:99:150,0,428	0	0	6	1
chr2	203489634	203489634	T	C	exonic	RAPH1	.	nonsynonymous SNV	RAPH1:NM_001329728:exon4:c.A682G:p.T228A,RAPH1:NM_203365:exon4:c.A682G:p.T228A,RAPH1:NM_213589:exon4:c.A682G:p.T228A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.096	0.00788056028626	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.154	0.51853	T	0.22	0.26066	T	0.0	0.02946	B	0.001	0.08700	B	0.303161	0.14562	N	0.610679	1	0.08975	N	1.355	0.33814	L	0.96	0.44856	T	-1.76	0.45587	N	0.053	0.13198	-1.0291	0.20746	T	0.077	0.30859	T	10	0.05994624	0.07287	T	0.007881	0.20903	T	0.096	0.27654	0.128	0.03331	0.300371490279	0.29641	0.2674244279367688	0.26655	0.222689188516	0.24806	0.302903115749	0.10835	T	0.290483	0.66325	T	-0.287064	0.09932	T	-0.650124	0.08945	T	0.0429314263164997	0.04225	T	0.635836	0.25103	T	0.060910147	0.12554	0.06240599	0.12205	0.060910147	0.12554	0.06240599	0.12205	-3.65	0.21059	T	.	.	0.071	0.07036	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	1.547523	0.19836	14.46	0.96414788638314131	0.29737	0.67097	0.33309	D	AEFBI	0.154944	0.28006	N	-0.591629990298605	0.19197	1.002863	-0.518845938930486	0.21642	1.171712	0.793037790096778	0.24048	0.67177	0.52595	0	0.573888	0.26702	0	0.608884	0.39905	0	0.711	0.71501	0	.	.	5.78	0.732	0.17433	1.018000	0.29604	0.960000	0.22984	0.665000	0.62972	0.655000	0.28216	0.921000	0.28324	0.998000	0.85391	0.0:0.259:0.0:0.741	9.722	0.39474	362	0.84826	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	922.49	28	chr2	203489634	.	T	C	922.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.88;DP=217;ExcessHet=0;FS=2.132;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.98;ReadPosRankSum=1.58;SOR=0.99	GT:AD:DP:GQ:PL	0/1:30,36:66:99:933,0,664	6	0	1	0
chr2	205176532	205176532	A	G	exonic	PARD3B	.	nonsynonymous SNV	PARD3B:NM_152526:exon12:c.A1693G:p.I565V,PARD3B:NM_001302769:exon13:c.A1879G:p.I627V,PARD3B:NM_057177:exon13:c.A1879G:p.I627V,PARD3B:NM_205863:exon13:c.A1879G:p.I627V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.00138797596905	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.06944	B	0.375088	0.04386	N	1.375020	1	0.08975	N	0.235	0.09667	N	3.12	0.09728	T	0.01	0.06868	N	0.021	0.04790	-0.9972	0.30701	T	0.011	0.04088	T	10	0.034350485	0.01639	T	0.001388	0.02037	T	0.010	0.01040	0.21	0.12781	0.190952846119	0.18690	0.20569266747223547	0.20486	0.021007098256	0.02077	0.242679297924	0.03036	T	8.42E-4	0.02535	T	-0.423556	0.01624	T	-0.846185	0.01010	T	0.0431225457715316	0.04260	T	0.194181	0.02102	T	0.023502624	0.01096	0.021783553	0.00219	0.023502624	0.01096	0.021783553	0.00219	-3.016	0.11342	T	.	.	0.068	0.03588	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	-1.031164	0.00728	0.022	0.15179478847219136	0.00362	0.02076	0.06179	N	AEFBI	0.034073	0.04156	N	-1.60542362540297	0.01238	0.05383408	-1.7265110357808	0.01025	0.04597314	0.999999627889841	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.36	-10.7	0.00191	-2.014000	0.01537	-1.808000	0.04688	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.612000	0.31691	0.1276:0.3937:0.2087:0.2701	2.317	0.03943	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	.	.	.	.	.	.	.	.	0.07143	789.53	33	chr2	205176532	.	A	G	789.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.297;DP=270;ExcessHet=0;FS=0.793;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.58;ReadPosRankSum=-0.893;SOR=0.838	GT:AD:DP:GQ:PL	0/1:53,39:92:99:800,0,1206	6	0	1	0
chr2	206958367	206958367	T	C	exonic	CPO	.	nonsynonymous SNV	CPO:NM_173077:exon4:c.T334C:p.W112R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.522	0.0220376108331	.	.	.	.	.	.	.	.	.	.	.	.	.	rs141746067	6.896e-07	1.368e-06	1.372e-06	0	1.191e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.191e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.999211	0.46353	D	4.625	0.99315	H	2.57	0.13552	T	-13.44	0.99936	D	0.938	0.94432	-0.6655	0.62031	T	0.151	0.47874	T	10	0.9799401	0.97942	D	0.022038	0.44885	T	0.522	0.79704	0.898	0.97685	0.355450299083	0.35149	0.9647613687670129	0.96463	0.647322018576	0.58114	0.726120710373	0.70940	T	0.092753	0.39070	T	0.250205	0.78621	D	0.121626	0.78343	D	0.996542394161224	0.89565	D	0.910709	0.68343	D	0.95120174	0.96388	0.933755	0.97352	0.95120174	0.96388	0.933755	0.97352	-12.862	0.88786	D	.	.	0.987	0.92844	P	.	.	4.919156	0.81005	27.4	0.9963423509881576	0.76264	0.97704	0.76535	D	AEFDIJ	0.836364	0.75413	D	0.898565004188186	0.91689	11.01271	0.800676274404131	0.89839	10.14363	0.998783523313341	0.37667	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.01	5.01	0.66477	7.635000	0.82446	4.714000	0.44471	0.580000	0.29708	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:0.0:0.0:1.0	12.708	0.56440	272	0.89337	Peptidase M14, carboxypeptidase A|Peptidase M14, carboxypeptidase A|Peptidase M14, carboxypeptidase A|Peptidase M14, carboxypeptidase A|Carboxypeptidase O	.	.	.	.	.	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	2152.44	33	chr2	206958367	.	T	C	2152.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.742;DP=368;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.57;ReadPosRankSum=1.45;SOR=0.693	GT:AD:DP:GQ:PL	0/1:90,96:186:99:2163,0,2080	6	0	1	0
chr2	214781125	214781125	G	T	exonic	BARD1	.	nonsynonymous SNV	BARD1:NM_001282543:exon3:c.C692A:p.S231Y,BARD1:NM_000465:exon4:c.C749A:p.S250Y	.	.	.	.	.	.	.	.	.	.	YES	1024117	Familial_cancer_of_breast	MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.064	0.0338457612474	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.23905	T	0.726	0.05327	T	0.003	0.11197	B	0.001	0.04355	B	0.416541	0.04622	N	1.323060	1	0.08975	N	0	0.06538	N	-0.72	0.72994	T	-0.93	0.24898	N	0.126	0.17691	-0.9830	0.34305	T	0.146	0.47021	T	10	0.085078746	0.14328	T	0.033846	0.55269	D	0.064	0.18567	0.408	0.44230	0.626257759281	0.62321	0.08705939196531197	0.08639	0.1002850897	0.11338	0.255554139614	0.04375	T	0.078713	0.35958	T	-0.162956	0.26305	T	-0.471852	0.25316	T	0.0268054372179205	0.01516	T	0.658834	0.26791	T	0.03484109	0.03989	0.032462772	0.01986	0.03484109	0.03988	0.032462772	0.01985	-6.63	0.51282	T	.	.	0.096	0.23952	B	.;.	.;.	0.523831	0.08927	5.706	0.6623200468618865	0.07999	0.04099	0.09565	N	AEFBI	0.027985	0.02383	N	-1.1775560594367	0.05340	0.2432128	-1.16148281130089	0.06564	0.3163698	0.00160912212136725	0.08694	0.719381	0.83141	0	0.723133	0.82719	0	0.608884	0.39905	0	0.567892	0.33627	0	.	.	5.75	-0.273	0.12276	0.102000	0.15108	1.281000	0.25351	-0.106000	0.15538	0.000000	0.06391	0.001000	0.17328	0.000000	0.00833	0.1496:0.4267:0.2112:0.2125	2.843	0.05195	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	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	2030.49	38	chr2	214781125	.	G	T	2030.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.329;DP=407;ExcessHet=0;FS=5.214;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.1;ReadPosRankSum=-1.434;SOR=0.826	GT:AD:DP:GQ:PL	0/1:96,87:183:99:2041,0,2254	6	0	1	0
chr2	217847726	217847726	T	G	exonic	TNS1	.	nonsynonymous SNV	TNS1:NM_001308022:exon16:c.A2416C:p.N806H,TNS1:NM_001308023:exon17:c.A2416C:p.N806H,TNS1:NM_022648:exon17:c.A2416C:p.N806H	.	398	1105	18	1	0	20	0.00896861	.	.	.	697315	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.104	0.0429944531494	0.0012	0.000599042	0.0018	0.0003	0.0012	0	0.0006	0.0020	0.0033	0.0038	0.0017141	265	154602	rs141901890	0.0022	0.0022	0.0021	0.0023	0.0070	0.0022	0.0021	0.0052	0.0047	0.0002	0.0010	0.0008	0	0.0010	0.0070	0.0023	0.0023	0.0042	0.0015	0.0015	0.0015	0.0015	0.0041	0.0013	0.0012	0.0027	0.0023	0.0003	0	0.0007	0.0014	0	0.0010	0	0.0024	0.0005	0.0041	0.217	0.19157	T	0.139	0.33780	T	0.162	0.28404	B	0.121	0.32300	B	0.986698	0.08058	N	0.994171	1	0.08975	N	1.1	0.28011	L	-2.76	0.90904	D	-0.33	0.14390	N	0.238	0.30687	-0.4985	0.68704	T	0.474	0.79784	T	10	0.0075338185	0.00171	T	0.042994	0.60755	D	0.104	0.29647	.	.	0.631036566339	0.62802	0.35266923823291957	0.35180	0.222514327128	0.24783	0.335076749325	0.15699	T	0.045347	0.27096	T	-0.437887	0.01331	T	-0.399437	0.33450	T	0.00503909717186177	0.00054	T	0.737426	0.35417	T	0.05296016	0.09952	0.05846371	0.10808	0.05296016	0.09952	0.05846371	0.10807	-2.723	0.07498	T	.	.	0.069	0.03093	B	.;.;.;.;.;.	.;.;.;.;.;.	2.406268	0.30922	18.58	0.8255103183594763	0.14251	0.75342	0.36884	D	AEFDBCI	0.334560	0.43328	N	-0.71279601441514	0.15661	0.791244	-0.666106537991906	0.17811	0.9486976	0.99997784324916	0.50053	0.653281	0.48532	0	0.59043	0.45803	0	0.602189	0.34648	0	0.669	0.65921	0	.	.	4.11	2.9	0.32809	1.378000	0.33935	3.369000	0.37918	0.665000	0.62972	0.859000	0.30595	0.997000	0.33255	0.580000	0.30894	0.0:0.2965:0.0:0.7035	6.640	0.22096	957	0.09725	.;.;.;.;.;.	.	.	.	.	.	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	0.005539	0.000000	0.005435	0.005848	0.000000	0.000000	0.012195	0.007576	0.07143	961.46	38	chr2	217847726	.	T	G	961.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-3.102;DP=290;ExcessHet=0;FS=9.607;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.51;ReadPosRankSum=1.13;SOR=0.157	GT:AD:DP:GQ:PL	0/1:22,40:62:99:972,0,621	6	0	1	0
chr2	218164782	218164782	G	A	exonic	CXCR1	.	nonsynonymous SNV	CXCR1:NM_000634:exon2:c.C430T:p.R144C	.	394	1095	32	1	0	34	0.0152878	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.235	.	0.0002	0.0071885	0.0033	9.61e-05	0.0003	0	0	0.0001	0.0055	0.0231	0.0029819	461	154602	rs111741549	0.0014	0.0014	0.0008	0.0020	0.0213	0.0014	0.0013	0.0205	0.0202	8.961e-05	0.0002	0	2.519e-05	0	0.0050	8.453e-05	0.0017	0.0213	0.0009	0.0009	0.0006	0.0012	0.0253	0.0008	0.0008	0.0216	0.0202	0.0002	0	0	0	0	0	0.0034	0.0001	0.0005	0.0253	0.0	0.91255	D	0.039	0.51112	D	0.571	0.38591	P	0.189	0.36295	B	0.000622	0.42799	D	0.195160	0.976278	0.39261	D	3.225	0.89467	M	0.95	0.43279	T	-4.32	0.76655	D	0.218	0.24385	-0.6961	0.60624	T	0.160	0.49413	T	10	0.005643517	0.00125	T	.	.	.	0.235	0.53788	.	.	0.733002149173	0.73062	0.38357733357133356	0.38272	0.116461663123	0.13138	0.333392649889	0.15446	T	0.412919	0.76693	T	-0.304049	0.08282	T	-0.191936	0.55407	T	0.13430649001899	0.15774	T	0.79842	0.44325	T	0.3759007	0.59018	0.39109933	0.63889	0.3759007	0.59018	0.39109933	0.63889	-10.154	0.74829	D	.	.	0.259	0.49402	B	.	.	3.625763	0.51336	23.1	0.99851729412726908	0.93102	0.39393	0.26203	N	AEFDGBI	0.299338	0.40842	N	0.188144503605216	0.50629	3.251149	0.175859659243105	0.48527	3.067516	0.996075153280669	0.34508	0.446893	0.09132	0	0.563428	0.19063	0	0.563428	0.18855	0	0.530356	0.10902	0	.	.	5.35	5.35	0.76297	2.189000	0.42253	2.346000	0.32284	0.676000	0.76740	0.209000	0.24412	0.052000	0.21854	0.885000	0.42453	0.0:0.0:0.837:0.163	12.880	0.57400	929	0.16858	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	0.002518	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.003788	0.07143	3645.44	88	chr2	218164782	.	G	A	3645.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.75;DP=504;ExcessHet=0;FS=3.501;MLEAC=1;MLEAF=0.071;MQ=59.88;MQRankSum=-1.363;QD=14.18;ReadPosRankSum=-1.764;SOR=0.928	GT:AD:DP:GQ:PL	0/1:124,133:257:99:3656,0,3005	6	0	1	0
chr2	219231956	219231956	A	C	exonic	ANKZF1	.	nonsynonymous SNV	ANKZF1:NM_001042410:exon3:c.A177C:p.R59S,ANKZF1:NM_018089:exon3:c.A177C:p.R59S	.	416	1079	25	2	0	29	0.0132602	.	.	.	697336	not_provided|ANKZF1-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.081	.	0.0060	0.00778754	0.0089	0.0012	0.0037	0.0001	0.0194	0.0080	0.0122	0.0211	0.0085316	1319	154602	rs13007650	0.0088	0.0088	0.0083	0.0093	0.0220	0.0087	0.0086	0.0211	0.0208	0.0012	0.0045	0.0032	7.557e-05	0.0160	0.0090	0.0083	0.0081	0.0220	0.0068	0.0068	0.0065	0.0072	0.0214	0.0065	0.0064	0.0180	0.0168	0.0015	0	0.0031	0.0032	0.0002	0.0172	0.0068	0.0092	0.0043	0.0214	0.746	0.38633	T	0.731	0.30631	T	0.003	0.11197	B	0.004	0.10090	B	0.271230	0.15123	N	0.699077	0.999995	0.31419	N	1.765	0.45800	L	1.75	0.26152	T	0.59	0.27463	N	0.16	0.16725	-1.0159	0.25045	T	0.032	0.13679	T	10	0.0038906932	0.00074	T	.	.	.	0.081	0.23632	0.291	0.25241	0.579527763308	0.57622	0.22850347717243094	0.22765	0.127213946032	0.14337	0.334729135036	0.15648	T	0.002178	0.12713	T	-0.655606	0.00067	T	-0.697589	0.05958	T	0.00644846666458732	0.00072	T	0.724828	0.35940	T	0.084070094	0.19442	0.05383886	0.09147	0.084070094	0.19442	0.05383886	0.09146	-3.037	0.10585	T	.	.	0.186	0.50536	B	.;.;.;.	.;.;.;.	1.900432	0.24136	16.28	0.92565790712357521	0.22018	0.66865	0.33228	D	AEFDBI	0.111853	0.22131	N	-0.438466859247574	0.24132	1.300918	-0.301788123306998	0.28042	1.560396	0.999954060419991	0.48110	0.732398	0.92422	0	0.662677	0.63036	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.12	3.91	0.44383	0.657000	0.24647	2.695000	0.34117	0.684000	0.82519	0.851000	0.30461	1.000000	0.68203	0.955000	0.50612	0.8146:0.1854:0.0:0.0	9.009	0.35291	550	0.72197	.;.;.;.	.	.	.	.	.	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	0.005035	0.000000	0.002717	0.000000	0.000000	0.000000	0.012195	0.003788	0.07143	860.49	33	chr2	219231956	.	A	C	860.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.449;DP=272;ExcessHet=0;FS=2.786;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.25;ReadPosRankSum=-0.883;SOR=1.016	GT:AD:DP:GQ:PL	0/1:55,38:93:99:871,0,1370	6	0	1	0
chr2	219246069	219246069	C	T	exonic	STK16	.	stopgain	STK16:NM_001330214:exon1:c.C70T:p.Q24X,STK16:NM_001008910:exon2:c.C70T:p.Q24X,STK16:NM_001330213:exon2:c.C70T:p.Q24X,STK16:NM_001330215:exon2:c.C70T:p.Q24X	.	424	1095	3	0	0	3	0.00136799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	2.723e-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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000004	0.62929	D	0.108139	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.394	0.46555	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.549544	0.95746	D	0.551606	0.95683	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;Dominant;.	.;.;.;High;.	9.223452	0.98638	40	0.9974014661708327	0.83409	0.96096	0.67515	D	AEFDGBCI	0.108738	0.21622	N	1.07625584245915	0.97669	16.53912	0.969571596852084	0.97947	17.090	0.999999999999396	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.685571	0.62057	0	0.621717	0.48901	0	.	.	6.17	6.17	0.99707	5.279000	0.65406	7.700000	0.66237	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	20.879	0.99870	520	0.74355	Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain;.;Protein kinase domain|Protein kinase domain|Protein kinase 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	625.44	33	chr2	219246069	.	C	T	625.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.559;DP=250;ExcessHet=0;FS=0.886;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.57;ReadPosRankSum=0.959;SOR=0.818	GT:AD:DP:GQ:PL	0/1:43,30:73:99:636,0,1061	6	0	1	0
chr2	219247684	219247684	C	T	exonic	STK16	.	nonsynonymous SNV	STK16:NM_001330215:exon4:c.C230T:p.T77I,STK16:NM_001008910:exon6:c.C584T:p.T195I,STK16:NM_001330213:exon6:c.C584T:p.T195I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.843	0.290918253154	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1386510163	2.057e-06	2.052e-06	1.364e-06	2.759e-06	1.162e-05	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	0	0	0	1.803e-06	0	1.162e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.78490	D	0.005	0.76473	D	1.0	0.90584	D	0.968	0.82059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.79	0.95329	H	-1.05	0.76690	T	-4.28	0.78135	D	0.95	0.95841	0.776	0.94118	D	0.761	0.91855	D	10	0.949894	0.94323	D	0.290918	0.90560	D	0.843	0.95101	0.804	0.92230	0.982719490344	0.98253	0.762211774658614	0.76169	1.10741529894	0.77938	0.787778377533	0.80104	T	0.174378	0.52358	T	0.414237	0.90714	D	0.357247	0.90598	D	0.991418838500977	0.81707	D	0.942806	0.91674	D	0.9106924	0.92359	0.8237167	0.89777	0.9106924	0.92360	0.8237167	0.89778	-12.49	0.87155	D	.	.	0.999	0.98268	P	.;.;.;.	.;.;.;.	5.241400	0.87993	29.4	0.99902691144769962	0.97426	0.97440	0.74764	D	AEFDBHCI	0.936641	0.93327	D	1.03057299763663	0.96609	14.90942	0.939246997609903	0.97066	15.54121	1.0	0.98316	0.706548	0.73137	0	0.672317	0.65289	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.28	5.28	0.74118	7.420000	0.79394	7.710000	0.66754	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	19.105	0.93276	512	0.75040	Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase 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	1231.46	32	chr2	219247684	.	C	T	1231.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.881;DP=263;ExcessHet=0;FS=5.658;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.84;ReadPosRankSum=1.4;SOR=0.318	GT:AD:DP:GQ:PL	0/1:38,45:83:99:1242,0,1044	6	0	1	0
chr2	227363746	227363746	T	G	exonic	TM4SF20	.	nonsynonymous SNV	TM4SF20:NM_024795:exon4:c.A668C:p.K223T	.	433	1043	44	2	0	48	0.022493	.	.	.	1602291	not_provided|TM4SF20-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.120	.	0.0035	0.00539137	0.0076	0.0010	0.0016	0	0.0003	0.0062	0.0088	0.0281	0.0068757	1063	154602	rs137891000	0.0063	0.0063	0.0057	0.0070	0.0280	0.0062	0.0062	0.0271	0.0267	0.0011	0.0029	0.0329	2.519e-05	0.0006	0.0245	0.0046	0.0083	0.0280	0.0046	0.0046	0.0040	0.0052	0.0246	0.0043	0.0042	0.0210	0.0197	0.0007	0	0.0065	0.0354	0	0.0003	0.0136	0.0045	0.0057	0.0246	0.075	0.34444	T	0.032	0.53426	D	0.954	0.54400	P	0.812	0.58704	P	0.180637	0.17112	N	0.601254	1	0.08975	N	2.11	0.58565	M	1.53	0.30401	T	-2.04	0.46842	N	0.177	0.19055	-1.0304	0.20325	T	0.085	0.33269	T	10	0.0039727986	0.00077	T	.	.	.	0.120	0.33359	.	.	0.379881503574	0.37595	0.1257288560982809	0.12498	0.0415005756908	0.04460	0.282254904509	0.07809	T	0.007505	0.06912	T	-0.525279	0.00410	T	-0.506354	0.21690	T	0.0176095059824936	0.00494	T	0.588241	0.21547	T	0.086876065	0.20208	0.092055134	0.21675	0.08487282	0.19664	0.092055134	0.21674	-4.551	0.31550	T	.	.	0.184	0.39865	B	.	.	1.267217	0.16655	12.68	0.99460746838078851	0.65788	0.08078	0.14050	N	AEFBHCI	0.099348	0.20000	N	-0.236041235446511	0.31664	1.777796	-0.409087295706952	0.24730	1.355901	0.999957532355736	0.48110	0.525926	0.21836	0	0.615948	0.52940	0	0.615948	0.41167	0	0.584449	0.35598	0	.	.	5.62	1.98	0.25351	-0.109000	0.10810	0.259000	0.16521	0.665000	0.62972	0.001000	0.13787	0.000000	0.08366	0.836000	0.39433	0.0:0.2599:0.0:0.7401	7.081	0.24410	925	0.17918	.	.	.	.	.	.	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	0.017623	0.010101	0.012228	0.032164	0.050000	0.000000	0.003049	0.030303	0.08333	1388.27	33	chr2	227363746	.	T	G	1388.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.41;DP=284;ExcessHet=0;FS=2.46;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.97;ReadPosRankSum=-0.144;SOR=0.973	GT:AD:DP:GQ:PL	0/1:56,60:116:99:1398,0,1251	5	0	1	1
chr2	227687447	227687447	C	T	exonic	SLC19A3	.	nonsynonymous SNV	SLC19A3:NM_001371411:exon6:c.G1441A:p.V481M,SLC19A3:NM_001371412:exon6:c.G1441A:p.V481M,SLC19A3:NM_025243:exon6:c.G1441A:p.V481M,SLC19A3:NM_001371413:exon7:c.G1429A:p.V477M,SLC19A3:NM_001371414:exon7:c.G1429A:p.V477M	Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2), Autosomal recessive	.	.	.	.	.	.	.	.	.	.	825813	Biotin-responsive_basal_ganglia_disease|not_provided	MONDO:MONDO:0011841,MedGen:C1843807,OMIM:607483,Orphanet:199348,Orphanet:65284|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.213	0.0695557502369	0.0002	.	4.944e-05	0.0005	0	0	0	0	0	6.06e-05	3.88e-05	6	154602	rs368717276	2.189e-05	2.189e-05	2.314e-05	2.063e-05	0.0006	1.584e-05	1.356e-05	0.0004	0.0003	0.0006	0	0	0	0	0.0002	5.396e-06	8.28e-05	0	7.227e-05	7.224e-05	7.706e-05	6.725e-05	0.0003	3.971e-05	3.127e-05	0.0001	0.0001	0.0003	0	0	0	0	0	0	0	0	0	0.108	0.29420	T	0.099	0.38891	T	0.022	0.18677	B	0.004	0.10090	B	0.028272	0.01682	N	2.121240	1	0.08975	N	0	0.06538	N	-2.05	0.85799	D	-0.25	0.11008	N	0.07	0.04307	-0.5468	0.66907	T	0.481	0.80180	T	10	0.052578896	0.05314	T	0.069556	0.70760	D	0.213	0.50496	.	.	0.431150418975	0.42736	0.12242099853605641	0.12169	0.0745184249875	0.08358	0.182141929865	0.00115	T	0.047482	0.27735	T	-0.421034	0.01685	T	-0.512561	0.21052	T	0.031740362757778	0.02265	T	0.433757	0.11839	T	0.026295377	0.01669	0.035618242	0.02847	0.026295377	0.01668	0.035618242	0.02846	-4.775	0.34298	T	.	.	0.080	0.08224	B	.;.;.	.;.;.	0.589602	0.09582	6.355	0.79849812376572493	0.12929	0.05068	0.10861	N	AEFDBHCIJ	0.097816	0.19722	N	-1.23651169007932	0.04481	0.2023089	-1.22375154153162	0.05530	0.2637502	0.00125810974625766	0.08381	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	5.65	1.88	0.24630	0.741000	0.25870	0.844000	0.22071	-0.172000	0.11096	0.001000	0.13787	0.000000	0.08366	0.003000	0.05239	0.0:0.6327:0.0:0.3673	10.224	0.42391	600	0.68026	.;.;.	.	.	.	.	.	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	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	1163.63	34	chr2	227687447	.	C	T	1163.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.099;DP=254;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.69;ReadPosRankSum=0.64;SOR=0.71	GT:AD:DP:GQ:PL	0/1:33,52:85:99:1174,0,661	6	0	1	0
chr2	231037813	231037813	-	GAGGGCGGC	exonic	C2orf72	.	nonframeshift insertion	C2orf72:NM_001144994:exon1:c.248_249insGAGGGCGGC:p.A89_G90insRAA	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0009989	26	26028	rs1466699151	0.0064	0.0037	0.0064	0.0065	0.0098	0.0063	0.0062	0.0065	0.0065	0.0008	0.0019	0.0017	0	0.0026	0.0098	0.0067	0.0056	0.0035	0.0047	0.0046	0.0049	0.0044	0.0082	0.0044	0.0043	0.0076	0.0074	0.0012	0	0.0032	0.0015	0	0.0006	0.0074	0.0082	0.0030	0.0047	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	66.79	1	chr2	231037813	.	A	AGAGGGCGGC	66.79	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.524;DP=17;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.36;ReadPosRankSum=-0.524;SOR=0.368	GT:AD:DP:GQ:PL	0/1:3,2:5:75:75,0,120	6	0	1	0
chr2	231801165	231801165	G	A	exonic	COPS7B	.	nonsynonymous SNV	COPS7B:NM_001282950:exon7:c.G647A:p.R216H,COPS7B:NM_001308381:exon7:c.G662A:p.R221H	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.00392519995092	.	.	6.06e-05	0.0011	0	0	0	0	0	0	6.5e-06	1	154602	rs758206981	5.936e-05	5.678e-05	5.081e-05	6.815e-05	0.0009	4.889e-05	4.497e-05	0.0003	0.0002	0.0002	0.0001	0	0	0	0.0009	5.283e-05	0.0002	0	5.259e-05	5.255e-05	8.993e-05	1.346e-05	0.0001	2.558e-05	1.831e-05	2.265e-05	9.09e-06	4.826e-05	0	0.0001	0	0	0	0	4.41e-05	0.0005	0	0.224	0.26629	T	0.006	0.70582	D	0.0	0.02946	B	0.0	0.01387	B	0.503015	0.05103	N	1.309610	1	0.08975	N	.	.	.	0.85	0.47477	T	-1.05	0.27463	N	0.063	0.05162	-1.0212	0.23324	T	0.080	0.31795	T	9	0.029213995	0.01048	T	0.003925	0.09242	T	0.022	0.04323	0.241	0.17371	0.0954503805726	0.09146	0.13512184459811755	0.13436	.	.	.	.	.	.	.	.	-0.543957	0.00317	T	-0.782465	0.02379	T	0.0259346589446068	0.01397	T	0.40486	0.10377	T	.	.	.	.	.	.	.	.	-3.849	0.21538	T	.	.	0.101	0.22024	B	.;.	.;.	-0.045213	0.03982	0.899	0.78126796978182289	0.12166	0.05095	0.10894	N	AEFBCI	0.031545	0.03397	N	-1.75687439393346	0.00659	0.02844899	-1.89196887231299	0.00508	0.02250025	0.472966630396795	0.20722	0.562547	0.31514	0	0.546412	0.12157	0	0.463624	0.06942	0	0.635551	0.53088	0	.	.	1.91	-3.83	0.03988	-0.281000	0.08489	-0.410000	0.09352	-1.934000	0.00496	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5456:0.0:0.1941:0.2603	3.895	0.08640	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	.	.	.	.	.	.	.	.	0.07143	677.49	34	chr2	231801165	.	G	A	677.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.753;DP=234;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.59;ReadPosRankSum=-0.403;SOR=0.704	GT:AD:DP:GQ:PL	0/1:33,31:64:99:688,0,779	6	0	1	0
chr2	232524098	232524098	G	C	exonic	PRSS56	.	nonsynonymous SNV	PRSS56:NM_001195129:exon10:c.G1246C:p.G416R,PRSS56:NM_001369848:exon10:c.G1249C:p.G417R	Microphthalmia, isolated 6, Autosomal recessive	7	1514	1	0	0	1	0.000330142	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.708032614631	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1256235784	2.92e-06	2.736e-06	0	5.924e-06	2.921e-05	6.8e-07	4.6e-07	7.4e-07	2.1e-07	0	0	0	2.921e-05	0	0	2.795e-06	0	0	6.57e-06	6.567e-06	1.284e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.345	0.11182	N	.	.	.	.	.	.	0.128	0.14763	.	.	.	.	.	.	.	0.20186162	0.36284	T	0.708033	0.97621	D	.	.	.	.	0.683950608512	0.68125	0.5858252318567103	0.58512	.	.	0.855292677879	0.90411	D	0.009338	0.08507	T	0.0156502	0.53793	T	-0.215296	0.53188	T	.	.	.	0.690331	0.29972	T	0.038924344	0.05279	0.13622004	0.32593	0.038924344	0.05279	0.13622004	0.32592	-3.813	0.20999	T	.	.	0.148	0.34227	B	.;.	.;.	2.827702	0.37270	20.5	0.88832688899803758	0.18292	0.08148	0.14113	N	AEFDBCIJ	0.189209	0.31647	N	.	.	.	.	.	.	0.999708988499182	0.41986	0.199473	0.04044	0	0.166317	0.03975	0	0.215285	0.04585	0	0.109499	0.03221	0	.	.	3.81	1.95	0.25130	0.717000	0.25523	2.349000	0.32302	0.588000	0.31329	0.031000	0.20493	0.994000	0.32194	0.900000	0.43643	0.241:0.2167:0.5423:0.0	3.503	0.07242	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	.	.	.	.	.	.	.	.	0.07143	609.63	17	chr2	232524098	.	G	C	609.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.347;DP=197;ExcessHet=0;FS=3.918;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.72;ReadPosRankSum=1.39;SOR=0.85	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:26,26:52:99:0|1:232524098_G_C:620,0,636:232524098	6	0	1	0
chr2	232847517	232847517	A	0	exonic	GIGYF2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	1679.91	78	chr2	232847517	.	A	*	1679.91	.	AC=5;AF=0.357;AN=14;DP=634;ExcessHet=1.4958;FS=1.793;MLEAC=5;MLEAF=0.357;MQ=60;QD=3.26;SOR=0.857	GT:AD:DP:GQ:PGT:PID:PL:PS	1/0:0,53:96:99:.:.:5390,1722,1491:.	2	0	5	0
chr2	233511743	233511743	C	T	exonic	USP40	.	nonsynonymous SNV	USP40:NM_001382298:exon18:c.G2219A:p.G740E,USP40:NM_001365479:exon20:c.G2492A:p.G831E,USP40:NM_001382295:exon20:c.G2492A:p.G831E,USP40:NM_001382296:exon20:c.G2492A:p.G831E,USP40:NM_001382297:exon20:c.G2492A:p.G831E,USP40:NM_001382299:exon20:c.G2336A:p.G779E,USP40:NM_001382300:exon20:c.G2492A:p.G831E,USP40:NM_001382301:exon20:c.G2492A:p.G831E,USP40:NM_018218:exon20:c.G2489A:p.G830E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.0148281787015	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1255976391	6.849e-07	2.052e-06	1.362e-06	0	8.998e-07	0	0	.	.	0	0	0	0	0	0	8.998e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.303	0.25255	T	0.122	0.92824	T	0.998	0.90584	D	0.962	0.97372	D	0.150093	0.02956	N	1.907940	0.983822	0.41596	D	2.74	0.80084	M	0.86	0.46777	T	-1.87	0.64593	N	0.786	0.92200	-0.8310	0.53237	T	0.344	0.70956	T	10	0.58366495	0.65989	D	0.014828	0.35199	T	0.277	0.59375	0.399	0.42753	0.791860417249	0.78993	0.6908155710629033	0.69021	0.29233043963	0.31646	0.623587012291	0.56236	T	0.029397	0.21072	T	0.212617	0.75077	D	0.0676328	0.74751	D	0.945433020591736	0.62263	D	0.810019	0.47234	T	0.16401173	0.36580	0.18307668	0.41274	0.16401173	0.36580	0.18307668	0.41273	-10.331	0.75870	D	.	.	0.747	0.74905	P	.;.;.;.	.;.;.;.	4.077672	0.60628	24.2	0.99758507439014965	0.84851	0.90139	0.51084	D	AEFDBI	0.452284	0.50590	N	0.629058587960734	0.75020	6.232705	0.585576046853223	0.73903	6.047534	0.999977921248042	0.50053	0.706298	0.61202	0	0.633656	0.55848	0	0.653264	0.51672	0	0.613276	0.41899	0	.	.	4.85	4.85	0.62375	4.583000	0.60675	4.738000	0.44591	0.549000	0.26987	0.967000	0.34061	1.000000	0.68203	0.960000	0.51673	0.0:1.0:0.0:0.0	15.284	0.73518	929	0.16858	.;.;.;.	.	.	.	.	.	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	497.49	33	chr2	233511743	.	C	T	497.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.424;DP=239;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.43;ReadPosRankSum=0.882;SOR=0.648	GT:AD:DP:GQ:PL	0/1:41,26:67:99:508,0,889	6	0	1	0
chr2	237372138	237372138	A	C	exonic	COL6A3	.	nonsynonymous SNV	COL6A3:NM_057166:exon6:c.T2058G:p.D686E,COL6A3:NM_057164:exon7:c.T2658G:p.D886E,COL6A3:NM_057165:exon8:c.T3261G:p.D1087E,COL6A3:NM_057167:exon8:c.T3261G:p.D1087E,COL6A3:NM_004369:exon9:c.T3879G:p.D1293E	Bethlem myopathy 1, Autosomal recessive, Autosomal dominant;Dystonia 27, Autosomal recessive;Ullrich congenital muscular dystrophy 1, Autosomal recessive, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	.	196249	Collagen_6-related_myopathy|Bethlem_myopathy_1A|not_specified|COL6A3-related_disorder	MONDO:MONDO:0100225,MedGen:CN117976|MONDO:MONDO:0024530,MedGen:CN029274,OMIM:158810,Orphanet:610|MedGen:CN169374|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.028	.	.	0.00439297	0.0020	0	0	0.0265	0.0006	0.0001	0	0.0002	0.0017917	277	154602	rs74425496	0.0014	0.0014	0.0015	0.0014	0.0491	0.0014	0.0013	0.0473	0.0465	0	4.472e-05	3.826e-05	0.0491	0.0003	0.0002	5.575e-05	0.0006	0.0001	0.0009	0.0009	0.0008	0.0011	0.0234	0.0008	0.0008	0.0200	0.0187	0	0	6.539e-05	0.0003	0.0234	0.0008	0	0.0001	0.0009	0.0002	0.409	0.13088	T	0.365	0.60972	T	0.808	0.45299	P	0.389	0.44119	B	0.000881	0.41231	N	0.105297	0.674056	0.30338	N	0.135	0.08676	N	1.2	0.37405	T	-0.7	0.21003	N	0.194	0.23125	-0.9096	0.46904	T	0.017	0.07092	T	10	0.004172057	0.00083	T	.	.	.	0.028	0.06331	0.388	0.40951	0.398872588132	0.39498	0.4363830400015776	0.43555	0.235026846186	0.26031	0.363456785679	0.19888	T	0.155471	0.49722	T	-0.617092	0.00115	T	-0.591513	0.13536	T	0.0403805451048511	0.03760	T	0.751225	0.39401	T	0.09658577	0.22752	0.036303595	0.03051	0.09476124	0.22285	0.04233072	0.05017	-2.375	0.04982	T	0.17041098780709374	0.21425	0.101	0.24733	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	-0.714850	0.01286	0.068	0.82786037788934885	0.14374	0.06786	0.12809	N	AEFDBI	0.259305	0.37767	N	-1.62996737584999	0.01122	0.04874013	-1.76196722187599	0.00889	0.03973182	0.999999997147536	0.74766	0.638212	0.43195	0	0.59043	0.45803	0	0.653264	0.51672	0	0.613276	0.41899	0	.	.	5.73	-11.0	0.00133	-3.445000	0.00521	-12.290000	0.00536	-0.752000	0.03574	0.000000	0.06391	0.000000	0.08366	0.223000	0.22544	0.5957:0.2416:0.0825:0.0802	6.795	0.22907	940	0.13648	.;von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A;.;von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A;.;.;.	.	.	.	.	.	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	1871.45	34	chr2	237372138	.	A	C	1871.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.66;DP=341;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.64;ReadPosRankSum=0.459;SOR=0.643	GT:AD:DP:GQ:PL	0/1:76,72:148:99:1882,0,1931	6	0	1	0
chr2	237381337	237381337	G	C	exonic	COL6A3	.	nonsynonymous SNV	COL6A3:NM_057164:exon3:c.C254G:p.T85S,COL6A3:NM_057166:exon3:c.C254G:p.T85S,COL6A3:NM_057165:exon4:c.C857G:p.T286S,COL6A3:NM_057167:exon4:c.C857G:p.T286S,COL6A3:NM_004369:exon5:c.C1475G:p.T492S	Bethlem myopathy 1, Autosomal recessive, Autosomal dominant;Dystonia 27, Autosomal recessive;Ullrich congenital muscular dystrophy 1, Autosomal recessive, Autosomal dominant	0	1468	50	4	0	58	0.0193721	.	.	.	100808	Collagen_6-related_myopathy|not_specified|not_provided|Bethlem_myopathy_1A	MONDO:MONDO:0100225,MedGen:CN117976|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0024530,MedGen:CN029274,OMIM:158810,Orphanet:610	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.115	.	0.0020	0.00359425	0.0075	0.0012	0.0022	0	0.0123	0.0088	0.0099	0.0116	0.007128	1102	154602	rs113897824	0.0059	0.0060	0.0056	0.0063	0.0140	0.0058	0.0058	0.0116	0.0113	0.0007	0.0020	0.0342	0	0.0100	0.0140	0.0050	0.0071	0.0122	0.0053	0.0053	0.0049	0.0057	0.0133	0.0050	0.0049	0.0107	0.0097	0.0008	0	0.0016	0.0429	0	0.0118	0.0204	0.0058	0.0043	0.0133	0.385	0.35349	T	0.142	0.36233	T	0.542	0.37927	P	0.279	0.40265	B	0.015240	0.28305	N	0.245514	0.801403	0.34516	D	0.935	0.23595	L	-1.68	0.82897	D	-0.89	0.31981	N	0.197	0.25130	-0.5242	0.67759	T	0.304	0.67464	T	10	0.0041661263	0.00082	T	.	.	.	0.115	0.32236	0.356	0.35734	0.582638149471	0.57935	0.28273255772480255	0.28186	0.244890568272	0.27008	0.279157876968	0.07375	T	0.199684	0.55704	T	-0.400147	0.02310	T	-0.337172	0.40666	T	0.00407187472035348	0.00043	T	0.612239	0.30590	T	0.09517698	0.22393	0.07853483	0.17598	0.079272114	0.18101	0.076297514	0.16884	-3.885	0.30283	T	.	.	0.097	0.18122	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	1.459944	0.18824	13.94	0.95807155714322945	0.27873	0.42820	0.26962	N	AEFBI	0.260702	0.37880	N	-0.69545567415975	0.16151	0.820323	-0.645389732327595	0.18333	0.9788823	0.999450295830064	0.39788	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.5	3.64	0.40864	0.728000	0.25682	4.383000	0.43188	0.676000	0.76740	0.007000	0.17678	1.000000	0.68203	0.934000	0.47231	0.0:0.2658:0.5963:0.1378	10.912	0.46327	931	0.16308	.;von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A;.;von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A;.;.;.;von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A	.	.	.	.	.	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	0.009567	0.000000	0.004076	0.017544	0.000000	0.008621	0.021341	0.018939	0.1429	4170.24	33	chr2	237381337	.	G	C	4170.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.278;DP=385;ExcessHet=0.3476;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=18.21;ReadPosRankSum=0.388;SOR=0.695	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:59,71:130:99:0|1:237381337_G_C:2752,0,2231:237381337	5	0	2	0
chr2	237381341	237381341	C	G	exonic	COL6A3	.	nonsynonymous SNV	COL6A3:NM_057164:exon3:c.G250C:p.D84H,COL6A3:NM_057166:exon3:c.G250C:p.D84H,COL6A3:NM_057165:exon4:c.G853C:p.D285H,COL6A3:NM_057167:exon4:c.G853C:p.D285H,COL6A3:NM_004369:exon5:c.G1471C:p.D491H	Bethlem myopathy 1, Autosomal recessive, Autosomal dominant;Dystonia 27, Autosomal recessive;Ullrich congenital muscular dystrophy 1, Autosomal recessive, Autosomal dominant	0	1468	50	4	0	58	0.0193721	.	.	.	100807	not_provided|not_specified|Bethlem_myopathy_1A|Collagen_6-related_myopathy	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0024530,MedGen:CN029274,OMIM:158810,Orphanet:610|MONDO:MONDO:0100225,MedGen:CN117976	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.521	.	0.0018	0.00359425	0.0075	0.0012	0.0022	0	0.0123	0.0088	0.0099	0.0116	0.007128	1102	154602	rs112010940	0.0059	0.0060	0.0056	0.0063	0.0140	0.0058	0.0058	0.0116	0.0113	0.0006	0.0020	0.0342	0	0.0100	0.0140	0.0050	0.0071	0.0122	0.0053	0.0053	0.0049	0.0057	0.0133	0.0050	0.0049	0.0107	0.0097	0.0008	0	0.0016	0.0429	0	0.0118	0.0204	0.0058	0.0043	0.0133	0.004	0.65419	D	0.002	0.92824	D	0.503	0.37206	P	0.464	0.46572	P	0.000032	0.55875	D	0.000000	0.998002	0.58761	D	1.85	0.49092	L	-1.8	0.83893	D	-2.34	0.80595	N	0.408	0.49420	-0.2252	0.77013	T	0.445	0.78136	T	10	0.004274875	0.00086	T	.	.	.	0.521	0.79643	.	.	0.784802411588	0.78281	0.6835498080276483	0.68293	0.447034461529	0.44568	0.377826780081	0.21948	T	0.278705	0.76907	T	-0.214431	0.18760	T	-0.0704044	0.65597	T	0.0245525690017757	0.01215	T	0.836716	0.57527	T	0.35974628	0.57816	0.34155858	0.59894	0.38446113	0.59638	0.3216856	0.58114	-8.526	0.64641	D	.	.	0.380	0.62162	A	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.134648	0.42367	21.5	0.98249625934338536	0.39558	0.68644	0.33880	D	AEFBI	0.566125	0.57223	D	-0.210755514957118	0.32693	1.846463	-0.18538953988746	0.32072	1.821115	0.999997813254138	0.74766	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.31	4.4	0.52402	3.131000	0.50210	1.849000	0.29243	0.599000	0.40250	0.769000	0.29345	0.941000	0.28781	0.945000	0.48827	0.0:0.7252:0.2748:0.0	14.505	0.67332	931	0.16308	.;von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A;.;von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A;.;.;.;von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A	.	.	.	.	.	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	0.009567	0.000000	0.004076	0.017544	0.000000	0.008621	0.021341	0.018939	0.1429	4229.24	33	chr2	237381341	.	C	G	4229.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.54;DP=389;ExcessHet=0.3476;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=18.31;ReadPosRankSum=-0.273;SOR=0.691	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:59,70:129:99:0|1:237381337_G_C:2731,0,2224:237381337	5	0	2	0
chr2	240869010	240869010	A	C	exonic	AGXT	.	nonsynonymous SNV	AGXT:NM_000030:exon1:c.A145C:p.M49L	Hyperoxaluria, primary, type 1, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	542045	Primary_hyperoxaluria,_type_I|not_specified|not_provided	MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.314	0.0865107457001	.	0.00199681	0.0004	0	0	0.0056	0	3.081e-05	0.0022	6.087e-05	0.0004592	71	154602	rs74205173	0.0001	0.0001	0.0001	0.0002	0.0042	0.0001	0.0001	0.0037	0.0035	0	4.504e-05	0	0.0042	0	0.0002	1.8e-05	0.0004	0.0002	0.0003	0.0003	0.0003	0.0003	0.0080	0.0002	0.0002	0.0059	0.0052	2.748e-05	0	6.621e-05	0	0.0080	0	0	5.889e-05	0	0.0002	1.0	0.00964	T	1.0	0.01155	T	0.006	0.13644	B	0.012	0.16012	B	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	0.14	0.08730	N	-3.07	0.92508	D	-0.77	0.21429	N	0.187	0.20395	-0.5519	0.66715	T	0.373	0.73205	T	10	0.008694053	0.00197	T	0.086511	0.74751	D	0.314	0.63588	0.707	0.84327	0.633221168995	0.63021	0.7699165858146282	0.76940	0.031904406079	0.03313	0.420078903437	0.27847	T	0.374541	0.73832	T	-0.27959	0.10712	T	-0.166426	0.57769	T	0.0172202937535903	0.00465	T	0.586341	0.21412	T	0.54840595	0.69867	0.33782086	0.59567	0.54840595	0.69868	0.33782086	0.59566	-3.01	0.10289	T	0.10987284786682286	0.09223	0.115	0.22897	B	.	.	1.323175	0.17275	13.07	0.49863223087304998	0.04284	0.82394	0.41628	D	AEFDBCI	0.794242	0.72200	D	-0.936225864443296	0.10003	0.476044	-0.840310118443605	0.13521	0.701833	0.999994564678696	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.42	3.23	0.36150	1.478000	0.35050	3.649000	0.39371	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.057000	0.15750	0.8428:0.1572:0.0:0.0	10.963	0.46611	982	0.03397	Aminotransferase class V 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	.	.	.	.	.	.	.	.	0.07143	1533.44	33	chr2	240869010	.	A	C	1533.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.693;DP=548;ExcessHet=0;FS=0.647;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.44;ReadPosRankSum=-1.024;SOR=0.757	GT:AD:DP:GQ:PL	0/1:72,62:134:99:1544,0,1884	6	0	1	0
chr3	5203090	5203090	T	-	exonic	EDEM1	.	frameshift deletion	EDEM1:NM_014674:exon5:c.983delT:p.V328Gfs*6	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	2384.4	34	chr3	5203089	.	GT	G	2384.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.57;DP=341;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.81;ReadPosRankSum=-0.289;SOR=0.72	GT:AD:DP:GQ:PL	0/1:88,73:161:99:2395,0,3042	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	0/1:176,70:246:99:.:.:566,0,4728:.	1	0	5	1
chr3	17308108	17308108	C	T	exonic	TBC1D5	.	nonsynonymous SNV	TBC1D5:NM_001349086:exon12:c.G614A:p.R205Q,TBC1D5:NM_001349091:exon12:c.G614A:p.R205Q,TBC1D5:NM_001349073:exon13:c.G1022A:p.R341Q,TBC1D5:NM_001349080:exon13:c.G1022A:p.R341Q,TBC1D5:NM_001349083:exon13:c.G614A:p.R205Q,TBC1D5:NM_001349087:exon13:c.G614A:p.R205Q,TBC1D5:NM_001349089:exon13:c.G614A:p.R205Q,TBC1D5:NM_001349074:exon14:c.G1022A:p.R341Q,TBC1D5:NM_001349075:exon14:c.G1022A:p.R341Q,TBC1D5:NM_001349077:exon14:c.G1022A:p.R341Q,TBC1D5:NM_001349078:exon14:c.G1022A:p.R341Q,TBC1D5:NM_001349081:exon14:c.G1043A:p.R348Q,TBC1D5:NM_001349082:exon14:c.G614A:p.R205Q,TBC1D5:NM_001349084:exon14:c.G614A:p.R205Q,TBC1D5:NM_001349085:exon14:c.G614A:p.R205Q,TBC1D5:NM_001349088:exon14:c.G614A:p.R205Q,TBC1D5:NM_001349090:exon14:c.G614A:p.R205Q,TBC1D5:NM_014744:exon14:c.G1022A:p.R341Q,TBC1D5:NM_001134381:exon15:c.G1022A:p.R341Q,TBC1D5:NM_001349076:exon15:c.G1022A:p.R341Q,TBC1D5:NM_001349079:exon15:c.G1022A:p.R341Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.561	0.0330445370444	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1254660421	6.928e-06	7.524e-06	8.272e-06	5.57e-06	2.583e-05	3.5e-06	2.55e-06	3.82e-06	2.77e-06	0	0	0	2.583e-05	0	0	8.128e-06	0	0	6.576e-06	6.568e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.003	0.68238	D	0.0	0.92824	D	1.0	0.90584	D	0.992	0.80445	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.305	0.32671	L	1.46	0.32238	T	-3.34	0.66325	D	0.977	0.98750	-0.9291	0.44270	T	0.168	0.50794	T	10	0.9004142	0.89402	D	0.033045	0.54705	D	0.561	0.82003	0.788	0.91068	0.70747093814	0.70492	0.7432164503930294	0.74267	0.660060915691	0.58845	0.793730676174	0.81010	T	0.231735	0.59813	T	0.241028	0.77758	D	0.108443	0.77469	D	0.996667921543121	0.89818	D	0.983402	0.95926	D	0.6604973	0.75926	0.73237336	0.84184	0.6604973	0.75927	0.73237336	0.84185	-11.827	0.83998	D	.	.	0.957	0.87636	P	.;.;.;.	.;.;.;.	5.513616	0.91708	32	0.99961477680916511	0.99998	0.94438	0.61166	D	AEFDGBHCI	0.893238	0.83099	D	0.760983617528322	0.83620	8.064941	0.775059396066988	0.88010	9.424956	0.999999999999992	0.74766	0.758104	0.99027	0	0.709663	0.81188	0	0.691618	0.62860	0	0.613276	0.41899	0	.	.	5.65	5.65	0.86881	7.821000	0.84782	7.622000	0.62351	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:1.0:0.0:0.0	19.718	0.96126	634	0.64659	Rab-GTPase-TBC domain|Rab-GTPase-TBC domain|Rab-GTPase-TBC domain;Rab-GTPase-TBC domain|Rab-GTPase-TBC domain|Rab-GTPase-TBC domain;.;Rab-GTPase-TBC domain|Rab-GTPase-TBC domain|Rab-GTPase-TBC 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	217.53	33	chr3	17308108	.	C	T	217.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.485;DP=196;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.02;ReadPosRankSum=0.207;SOR=0.608	GT:AD:DP:GQ:PL	0/1:20,11:31:99:228,0,490	6	0	1	0
chr3	39129135	39129135	C	T	exonic	TTC21A	.	nonsynonymous SNV	TTC21A:NM_001105513:exon14:c.C1837T:p.R613C,TTC21A:NM_001366899:exon15:c.C1984T:p.R662C,TTC21A:NM_001366900:exon15:c.C1960T:p.R654C,TTC21A:NM_145755:exon15:c.C1981T:p.R661C	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.557	0.0671804096706	7.8e-05	0.000998403	0.0013	0.0001	0.0003	0	0	0	0.0011	0.0091	0.0010802	167	154602	rs372202475	0.0005	0.0005	0.0003	0.0008	0.0082	0.0005	0.0005	0.0077	0.0075	0.0001	0.0002	0	5.038e-05	0	0.0002	3.058e-05	0.0007	0.0082	0.0003	0.0003	0.0002	0.0004	0.0054	0.0003	0.0002	0.0038	0.0032	0.0004	0	0.0001	0	0.0002	0	0	8.819e-05	0.0005	0.0054	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.877	0.70482	P	0.000699	0.42383	D	0.168035	0.999992	0.58761	D	3.34	0.90961	M	-0.22	0.77078	T	-7.53	0.95131	D	0.388	0.50056	0.351	0.88350	D	0.638	0.87332	D	10	0.012371153	0.00266	T	0.06718	0.70092	D	0.557	0.81774	.	.	0.890942997141	0.88986	0.7064300925967112	0.70585	0.19554568739	0.21894	0.346404850483	0.17391	T	0.245668	0.61500	T	-0.122845	0.32661	T	0.0575875	0.74084	D	0.14899817979578	0.17023	T	0.946705	0.80130	D	0.5254341	0.68571	0.3700217	0.62260	0.5254341	0.68572	0.3700217	0.62260	-8.913	0.69475	D	.	.	0.124	0.34049	B	.;.	.;.	3.889231	0.56581	23.8	0.99935406575128494	0.99579	0.90005	0.50852	D	AEFBI	0.559389	0.56822	D	0.519537342973635	0.68245	5.190799	0.426414833007792	0.63217	4.55103	0.99999851061257	0.74766	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.85	4.96	0.65153	2.518000	0.45198	2.190000	0.31200	0.599000	0.40250	1.000000	0.71638	0.978000	0.30204	0.302000	0.24547	0.296:0.704:0.0:0.0	12.879	0.57393	363	0.84772	.;.	.	.	.	.	.	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	0.000000	0.007576	0.07143	2326.63	38	chr3	39129135	.	C	T	2326.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.37;DP=368;ExcessHet=0;FS=4.252;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.64;ReadPosRankSum=-0.796;SOR=0.753	GT:AD:DP:GQ:PL	0/1:97,87:184:99:2337,0,2399	6	0	1	0
chr3	40532065	40532065	A	G	exonic	ZNF621	.	nonsynonymous SNV	ZNF621:NM_001098414:exon5:c.A295G:p.I99V,ZNF621:NM_001287245:exon5:c.A295G:p.I99V,ZNF621:NM_198484:exon5:c.A295G:p.I99V	.	431	1087	4	0	0	4	0.00183655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	.	7.7e-05	0.0111821	0.0047	0.0003	0.0008	0.0399	0	0.0003	0.0044	0.0115	0.0044695	691	154602	rs117655885	0.0019	0.0019	0.0016	0.0022	0.0307	0.0019	0.0018	0.0293	0.0287	0.0003	0.0006	0.0010	0.0307	0	0.0028	0.0002	0.0048	0.0120	0.0024	0.0024	0.0019	0.0029	0.0403	0.0022	0.0021	0.0358	0.0341	0.0003	0	0.0028	0.0006	0.0403	0	0.0170	0.0001	0.0038	0.0149	0.791	0.03192	T	0.891	0.17064	T	0.0	0.02946	B	0.0	0.01387	B	0.746740	0.06460	N	1.172110	1	0.08975	N	-0.805	0.01590	N	3.39	0.05710	T	0.06	0.06253	N	0.012	0.01825	-0.9631	0.38586	T	0.001	0.00222	T	10	0.0025477111	0.00039	T	.	.	.	0.041	0.10877	.	.	0.137902524267	0.13322	0.03507344767459971	0.03454	0.148275166982	0.16716	0.276525080204	0.07013	T	0.023225	0.17768	T	-0.731706	0.00023	T	-0.791687	0.02118	T	0.00514330044169587	0.00056	T	0.340966	0.07383	T	0.014015514	0.00078	0.020477906	0.00138	0.014015514	0.00078	0.020477906	0.00138	-4.008	0.23923	T	.	.	0.086	0.10931	B	.;.;.;.	.;.;.;.	-0.627658	0.01498	0.094	0.4971753606364423	0.04258	0.03639	0.08887	N	AEBCI	0.019721	0.00711	N	-1.53709919426345	0.01611	0.07043569	-1.55740513545423	0.01925	0.08784739	0.760337092203796	0.23500	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	3.75	-6.82	0.01537	-1.871000	0.01732	-0.361000	0.09674	0.750000	0.87069	0.000000	0.06391	0.000000	0.08366	0.942000	0.48361	0.2831:0.1295:0.3306:0.2568	0.863	0.01121	744	0.52588	.;.;.;.	.	.	.	.	rs117655885	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	0.008056	0.020202	0.006793	0.002924	0.000000	0.000000	0.003049	0.007576	0.07143	982.83	34	chr3	40532065	.	A	G	982.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.764;DP=261;ExcessHet=0;FS=3.141;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.99;ReadPosRankSum=-2.134;SOR=0.364	GT:AD:DP:GQ:PL	0/1:41,41:82:99:993,0,1090	6	0	1	0
chr3	41819493	41819493	T	-	exonic	ULK4	.	frameshift deletion	ULK4:NM_001322501:exon18:c.872delA:p.K291Rfs*17,ULK4:NM_001322500:exon19:c.1778delA:p.K593Rfs*17,ULK4:NM_017886:exon19:c.1778delA:p.K593Rfs*17	.	441	1045	36	0	0	36	0.0169332	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0073	0.0049	0.0045	0.0059	0.0010	0.0096	0.0085	0.0049	0.0004226	11	26028	rs752712052	0.0006	0.0094	0.0006	0.0006	0.0034	0.0006	0.0006	0.0030	0.0028	0.0016	0.0034	0.0010	0.0002	0.0017	0.0012	0.0003	0.0006	0.0025	4.174e-05	0.0002	2.707e-05	5.726e-05	4.501e-05	1.799e-05	1.184e-05	1.195e-05	6.31e-06	2.745e-05	0	0	0	0	0.0002	0	4.501e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	32.23	27	chr3	41819492	.	CT	C	32.23	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.859;DP=211;ExcessHet=0;FS=1.524;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=0.61;ReadPosRankSum=-0.105;SOR=0.879	GT:AD:DP:GQ:PL	0/1:46,7:53:42:42,0,1136	5	0	1	1
chr3	43576874	43576874	T	C	exonic	ANO10	.	nonsynonymous SNV	ANO10:NM_001204833:exon4:c.A647G:p.Y216C,ANO10:NM_001204832:exon5:c.A782G:p.Y261C,ANO10:NM_001346466:exon5:c.A782G:p.Y261C,ANO10:NM_001346469:exon5:c.A782G:p.Y261C,ANO10:NM_001204831:exon6:c.A980G:p.Y327C,ANO10:NM_001346463:exon6:c.A980G:p.Y327C,ANO10:NM_001346464:exon6:c.A980G:p.Y327C,ANO10:NM_001346465:exon6:c.A980G:p.Y327C,ANO10:NM_001346467:exon6:c.A980G:p.Y327C,ANO10:NM_001346468:exon6:c.A980G:p.Y327C,ANO10:NM_018075:exon6:c.A980G:p.Y327C	Spinocerebellar ataxia, autosomal recessive 10, Autosomal recessive	0	1513	9	0	0	9	0.0029654	.	.	.	294876	Inborn_genetic_diseases|Autosomal_recessive_spinocerebellar_ataxia_10|not_provided	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0013392,MedGen:C3150998,OMIM:613728,Orphanet:284289|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.308	0.0251139182337	0.0052	0.00119808	0.0033	0.0010	0.0029	0	0.0006	0.0048	0.0033	0.0019	0.0036222	560	154602	rs146569520	0.0048	0.0048	0.0049	0.0047	0.0068	0.0047	0.0047	0.0055	0.0055	0.0011	0.0030	0.0036	0	0.0003	0.0068	0.0056	0.0042	0.0018	0.0035	0.0035	0.0039	0.0031	0.0058	0.0033	0.0032	0.0053	0.0052	0.0009	0	0.0048	0.0029	0	0.0002	0.0034	0.0058	0.0047	0.0006	0.185	0.23450	T	0.174	0.31125	T	0.003	0.11197	B	0.008	0.13708	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.485	0.37223	L	0.13	0.60973	T	-1.96	0.45404	N	0.521	0.57006	-0.9985	0.30339	T	0.109	0.39462	T	10	0.009207547	0.00208	T	0.025114	0.48100	D	0.308	0.62947	.	.	0.585747170787	0.58248	0.8071596737399566	0.80670	0.13326417044	0.15006	0.766194939613	0.76853	T	0.060622	0.31436	T	-0.0842941	0.39013	T	0.11268	0.77751	D	0.0220382673705165	0.00914	T	0.940306	0.77472	D	0.55774677	0.70385	0.4430752	0.67536	0.55774677	0.70386	0.4430752	0.67536	-6.737	0.52088	T	0.1813730826545785	0.23384	0.082	0.08948	B	.;.;.;.	.;.;.;.	2.562669	0.33191	19.27	0.98754908936297137	0.45724	0.96661	0.70270	D	AEFDBI	0.681186	0.64462	D	-0.0672540045936526	0.38835	2.280714	0.139732704223985	0.46600	2.903425	0.999999992618184	0.74766	0.706298	0.61202	0	0.546412	0.12157	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.65	5.65	0.86881	4.214000	0.58324	3.429000	0.38303	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	15.885	0.79020	612	0.66786	.;.;.;.	.	.	.	.	.	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	0.006793	0.002924	0.000000	0.000000	0.003049	0.011364	0.07143	1766.44	34	chr3	43576874	.	T	C	1766.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.722;DP=338;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.78;ReadPosRankSum=0.104;SOR=0.659	GT:AD:DP:GQ:PL	0/1:84,66:150:99:1777,0,2378	6	0	1	0
chr3	44794410	44794410	A	C	exonic	KIF15	.	nonsynonymous SNV	KIF15:NM_020242:exon8:c.A833C:p.E278A	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.499	0.0509232695494	.	.	5.214e-05	0	0	0	0	0	0	0.0005	3.88e-05	6	154602	rs769754468	1.379e-05	1.368e-05	5.48e-06	2.221e-05	0.0002	9.01e-06	7.32e-06	0.0001	0.0001	0	0	0	0	0	0	0	3.34e-05	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	0.41637	T	0.416	0.22084	T	0.127	0.26966	B	0.444	0.45865	B	0.000066	0.52346	D	0.000000	0.999998	0.58761	D	0.325	0.10370	N	-0.95	0.75438	T	-3.9	0.72932	D	0.418	0.45803	-0.6555	0.62473	T	0.313	0.68273	T	10	0.3370994	0.50838	T	0.050923	0.64446	D	0.499	0.78288	0.457	0.52265	0.613844073566	0.61072	0.46756908989959894	0.46675	0.723819464558	0.62352	0.585985302925	0.50929	T	0.301296	0.83301	T	-0.0571905	0.43344	T	-0.0167975	0.69240	D	0.30358691721906	0.25152	T	.	.	.	0.24669933	0.47641	0.27542034	0.53478	0.24669933	0.47641	0.27542034	0.53477	-8.399	0.63758	D	.	.	0.155	0.36574	B	.;.	.;.	4.547765	0.71547	25.7	0.99205206150438963	0.55412	0.97294	0.73849	D	AEFGBI	0.676337	0.64141	D	-0.0310884279817736	0.40451	2.402464	0.121501392772827	0.45650	2.824472	0.999999668494415	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.67	4.67	0.58089	7.028000	0.76204	11.088000	0.85875	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	14.402	0.66626	323	0.86843	Kinesin motor domain|Kinesin motor domain|Kinesin motor domain|Kinesin motor domain;Kinesin motor domain|Kinesin motor domain|Kinesin motor domain|Kinesin motor 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	1315.53	33	chr3	44794410	.	A	C	1315.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.157;DP=296;ExcessHet=0;FS=0.704;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.54;ReadPosRankSum=1.15;SOR=0.589	GT:AD:DP:GQ:PL	0/1:60,54:114:99:1326,0,1539	6	0	1	0
chr3	46357985	46357985	C	T	exonic	CCR2	.	nonsynonymous SNV	CCR2:NM_001123041:exon2:c.C458T:p.T153M,CCR2:NM_001123396:exon2:c.C458T:p.T153M	.	422	1097	2	1	0	4	0.00181984	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.438	0.0557900529154	0.0003	.	9.9e-05	0.0003	8.639e-05	0.0001	0	9.012e-05	0	6.056e-05	8.41e-05	13	154602	rs370278890	1.915e-05	1.915e-05	2.178e-05	1.65e-05	8.961e-05	1.328e-05	1.144e-05	2.374e-05	1.258e-05	8.961e-05	4.472e-05	0	2.519e-05	0	0	1.619e-05	4.967e-05	1.159e-05	4.6e-05	4.597e-05	2.569e-05	6.726e-05	0.0001	2.109e-05	1.527e-05	4.739e-05	3.053e-05	0.0001	0	0	0	0	0	0	2.94e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000001	0.84330	D	0.000000	1	0.81001	D	3.535	0.93119	H	0.89	0.45636	T	-5.49	0.87223	D	0.599	0.74644	-0.0345	0.81536	T	0.368	0.72811	T	10	0.6933706	0.71993	D	0.05579	0.66366	D	0.438	0.74235	.	.	0.762446115887	0.76028	0.6722488289318858	0.67162	0.774241338114	0.64942	0.580577433109	0.50166	T	0.540468	0.84257	D	-0.0895979	0.38142	T	-0.0870426	0.64385	T	0.964640259742737	0.67018	D	0.994181	0.98066	D	0.8015482	0.84004	0.8031097	0.88465	0.8015482	0.84006	0.8031097	0.88466	-10.71	0.78044	D	.	.	0.245	0.47986	B	.;.;.	.;.;.	5.152725	0.86305	28.9	0.99911173820561483	0.98022	0.98341	0.81803	D	AEFGBI	0.757274	0.69628	D	0.811922129832665	0.86848	9.018328	0.713527173392581	0.83404	8.013185	1.0	0.98316	0.554377	0.28877	0	0.588066	0.40923	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.77	4.77	0.60425	6.106000	0.71175	4.886000	0.45715	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:1.0:0.0:0.0	18.165	0.89654	426	0.81110	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	.	.	.	.	.	.	.	.	0.07143	2898.44	90	chr3	46357985	.	C	T	2898.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.904;DP=522;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.46;ReadPosRankSum=-1.913;SOR=0.695	GT:AD:DP:GQ:PL	0/1:151,126:277:99:2909,0,3539	6	0	1	0
chr3	48174283	48174283	C	G	splicing	CDC25A	NM_201567:exon8:c.810+1G>C;NM_001789:exon9:c.930+1G>C	.	.	.	.	.	.	.	.	.	.	1.0000	0.93	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.872e-07	1.71e-05	0	1.381e-06	3.025e-05	0	0	.	.	3.025e-05	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.392481	0.89476	D	0.325996	0.89343	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	5.000131	0.82956	27.9	0.98231250675388404	0.39396	0.95833	0.66349	D	AEFBI	.	.	.	1.00404451880619	0.95868	14.04926	0.84618449324408	0.92792	11.63411	0.999998650712667	0.74766	0.156188	0.03335	0	0.156173	0.03658	0	0.082826	0.02530	0	0.117559	0.03655	0	0.957114	0.64042	5.6	4.72	0.59248	2.505000	0.45084	6.999000	0.57189	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.844000	0.39860	0.0:0.9136:0.0:0.0864	11.513	0.49752	22	0.98466	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.3333	269.47	40	chr3	48174283	.	C	G	269.47	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-2.343;DP=419;ExcessHet=3.1439;FS=328.398;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=0.98;ReadPosRankSum=0.838;SOR=9.507	GT:AD:DP:GQ:PL	0/1:61,45:113:99:222,0,621	2	0	4	1
chr3	49117734	49117734	C	T	exonic	USP19	.	nonsynonymous SNV	USP19:NM_001199160:exon4:c.G395A:p.R132H,USP19:NM_001199161:exon4:c.G395A:p.R132H,USP19:NM_001199162:exon4:c.G395A:p.R132H,USP19:NM_001351098:exon4:c.G350A:p.R117H,USP19:NM_001351099:exon4:c.G395A:p.R132H,USP19:NM_001351100:exon4:c.G395A:p.R132H,USP19:NM_001351101:exon4:c.G395A:p.R132H,USP19:NM_001351102:exon4:c.G350A:p.R117H,USP19:NM_001351103:exon4:c.G395A:p.R132H,USP19:NM_001351104:exon4:c.G395A:p.R132H,USP19:NM_001351105:exon4:c.G395A:p.R132H,USP19:NM_001351106:exon4:c.G395A:p.R132H,USP19:NM_001351107:exon4:c.G350A:p.R117H,USP19:NM_001351108:exon4:c.G350A:p.R117H,USP19:NM_006677:exon4:c.G395A:p.R132H	.	.	.	.	.	.	.	.	.	.	.	4083777	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.046	0.0029998859942	.	.	3.312e-05	0.0002	0	0	0	2.997e-05	0	0	2.59e-05	4	154602	rs745611822	4.788e-06	4.788e-06	8.167e-06	1.375e-06	0.0003	1.99e-06	1.28e-06	6.092e-05	2.521e-05	2.987e-05	0	0	2.519e-05	0	0.0003	1.799e-06	1.656e-05	0	1.972e-05	1.97e-05	2.57e-05	1.345e-05	7.239e-05	5.24e-06	2.45e-06	1.919e-05	1.032e-05	7.239e-05	0	0	0	0	0	0	0	0	0	0.157	0.25664	T	0.392	0.19188	T	0.004	0.12183	B	0.003	0.08700	B	0.099710	0.19920	N	0.559420	1	0.81001	D	0.97	0.24054	L	2.55	0.13795	T	-0.41	0.14000	N	0.138	0.16447	-0.9994	0.30087	T	0.018	0.07234	T	10	0.070097625	0.10152	T	0.003	0.06427	T	0.046	0.12618	.	.	0.285775778912	0.28195	0.25763063347887755	0.25677	0.189500635464	0.21270	0.25401455164	0.04203	T	0.008218	0.15700	T	-0.416655	0.01797	T	-0.599604	0.12845	T	0.0114066433161497	0.00170	T	0.846215	0.55187	T	0.023264658	0.01052	0.02530914	0.00572	0.023264658	0.01052	0.02530914	0.00571	-6.735	0.52937	T	.	.	0.073	0.12037	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.403515	0.30884	18.57	0.8603088495607969	0.16268	0.39679	0.26267	N	AEFDBI	0.061739	0.11823	N	-1.13484924338859	0.06033	0.2766598	-1.01330829746241	0.09492	0.4725466	0.899759303257718	0.26059	0.719381	0.83141	0	0.697927	0.68747	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	5.07	1.02	0.19102	0.433000	0.21196	0.995000	0.23219	-0.813000	0.03045	0.858000	0.30578	0.485000	0.25122	0.709000	0.34421	0.0:0.5361:0.0:0.4639	8.443	0.31985	0	0.99858	CS domain|CS domain;.;.;CS domain|CS domain;CS domain|CS domain;.;CS domain|CS 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	.	.	.	.	.	.	.	.	0.07143	2162.44	36	chr3	49117734	.	C	T	2162.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2;DP=392;ExcessHet=0;FS=1.789;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.38;ReadPosRankSum=-0.411;SOR=0.678	GT:AD:DP:GQ:PL	0/1:103,87:190:99:2173,0,2528	6	0	1	0
chr3	49685734	49685734	T	G	splicing	MST1	NM_020998:exon11:c.1251-2A>C	.	.	.	396	1048	78	0	0	78	0.0358786	0.9999	0.908	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0033	0.0022	0.0048	0.0020	0.0040	0.0032	0.0022	0.0038	0.0011902	184	154602	rs9714011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0312953	0.47230	T	-0.28273	0.46524	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.318552	0.66070	24.9	0.82760893892845555	0.14361	0.84942	0.44038	D	AEFDBCI	.	.	.	0.550271141106862	0.70098	5.451985	0.329790380301468	0.57298	3.894969	0.999999223157914	0.74766	0.199473	0.04044	0	0.09434	0.02614	0	0.215285	0.04585	0	0.109499	0.03221	0	0.244363	0.32384	5.22	4.06	0.46572	2.893000	0.48331	7.791000	0.68894	-0.114000	0.14653	0.998000	0.41325	1.000000	0.68203	0.017000	0.10941	0.1492:0.0819:0.0:0.7689	5.690	0.17097	1	0.99630	.	.	.	.	.	.	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	61.44	36	chr3	49685734	.	T	G	61.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.754;DP=477;ExcessHet=0;FS=30.688;MLEAC=1;MLEAF=0.071;MQ=58.58;MQRankSum=-15.82;QD=0.22;ReadPosRankSum=-2.5;SOR=3.519	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:255,20:275:72:0|1:49685734_T_G:72,0,10406:49685734	6	0	1	0
chr3	50295070	50295070	C	T	exonic	HYAL3	.	nonsynonymous SNV	HYAL3:NM_001200029:exon2:c.G533A:p.R178H,HYAL3:NM_001200030:exon2:c.G533A:p.R178H,HYAL3:NM_003549:exon2:c.G533A:p.R178H	.	417	1041	59	5	0	69	0.0320781	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.250	.	0.0035	0.00539137	0.0053	0.0006	0.0045	0	0	0.0045	0.01	0.0171	0.004877	754	154602	rs139756596	0.0039	0.0039	0.0034	0.0044	0.0178	0.0038	0.0038	0.0170	0.0167	0.0007	0.0040	0.0331	0	7.569e-05	0.0168	0.0024	0.0061	0.0178	0.0032	0.0032	0.0030	0.0034	0.0170	0.0029	0.0028	0.0140	0.0129	0.0006	0	0.0041	0.0331	0	0.0002	0.0102	0.0027	0.0028	0.0170	0.004	0.65419	D	0.029	0.65728	D	1.0	0.90584	D	0.999	0.97372	D	0.000042	0.53742	U	0.069612	0.990805	0.81001	D	3.48	0.92553	M	1.72	0.26588	T	-3.56	0.68880	D	0.299	0.33796	-0.7459	0.58149	T	0.140	0.45922	T	10	0.006772101	0.00154	T	.	.	.	0.250	0.55888	.	.	0.104622674875	0.10061	0.7554816360088094	0.75495	0.737908363262	0.63085	0.288535296917	0.08710	T	0.446394	0.78906	T	-0.423238	0.01632	T	-0.367103	0.37227	T	0.0763690686936043	0.09517	T	0.819918	0.47811	T	0.22886135	0.45613	0.2439974	0.49856	0.22886135	0.45613	0.2439974	0.49855	-7.173	0.55288	T	.	.	0.107	0.22098	B	.;.;.;.	.;.;.;.	3.297172	0.45244	22.1	0.99949030492686874	0.99931	0.33740	0.24901	N	AEFBCI	.	.	.	0.351077098192796	0.58796	4.054184	0.17647269697279	0.48562	3.07037	0.999997892522706	0.74766	0.615465	0.37627	0	0.550933	0.16991	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	4.74	2.89	0.32713	0.397000	0.20608	1.098000	0.24042	-0.186000	0.09761	0.024000	0.20007	0.869000	0.27571	0.945000	0.48827	0.0:0.8124:0.0:0.1876	9.003	0.35256	3	0.99430	.;.;.;.	.	.	.	.	.	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	0.005051	0.012228	0.029240	0.000000	0.017241	0.018293	0.015152	0.1429	2154.29	34	chr3	50295070	.	C	T	2154.29	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.03;DP=316;ExcessHet=0.3476;FS=1.876;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=12.31;ReadPosRankSum=-0.52;SOR=0.581	GT:AD:DP:GQ:PL	0/1:40,57:97:99:1268,0,835	5	0	2	0
chr3	56669732	56669732	T	C	exonic	TASOR	.	nonsynonymous SNV	TASOR:NM_001112736:exon5:c.A703G:p.M235V,TASOR:NM_001363940:exon5:c.A703G:p.M235V,TASOR:NM_001365635:exon5:c.A703G:p.M235V,TASOR:NM_001365636:exon5:c.A703G:p.M235V,TASOR:NM_001365637:exon5:c.A703G:p.M235V,TASOR:NM_001365638:exon5:c.A703G:p.M235V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.00441227951324	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1331223491	2.505e-05	2.599e-05	2.542e-05	2.467e-05	2.817e-05	1.819e-05	1.61e-05	1.974e-05	1.714e-05	0	2.817e-05	0	0	0	0	2.784e-05	6.906e-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	0.706	0.04094	T	1.0	0.02325	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999935	0.19363	N	.	.	.	1.08	0.39401	T	0.49	0.04533	N	0.136	0.13341	-0.9970	0.30755	T	0.031	0.13242	T	9	0.0308581	0.01215	T	0.004412	0.10781	T	0.037	0.09474	0.288	0.24761	0.043077524339	0.03247	0.17376557066767456	0.17296	0.264892400789	0.29045	0.223408922553	0.01516	T	.	.	.	-0.43647	0.01356	T	-0.742191	0.03799	T	0.016320198488769	0.00402	T	0.534247	0.17838	T	.	.	.	.	.	.	.	.	-3.454	0.16125	T	.	.	0.055	0.00390	B	.;.	.;.	0.385168	0.07567	4.224	0.30795351770771778	0.01703	0.68410	0.33792	D	AEFGBI	0.070176	0.13920	N	-0.787351807842733	0.13639	0.6733461	-0.571883973617169	0.20227	1.088822	0.00201957983988832	0.09087	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.51	2.98	0.33575	0.465000	0.21715	1.014000	0.23354	-0.109000	0.15193	1.000000	0.71638	0.999000	0.35428	0.137000	0.19835	0.0:0.2031:0.0:0.7969	6.871	0.23303	241	0.90582	.;.	.	.	.	.	.	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	0.001484	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	983.27	34	chr3	56669732	.	T	C	983.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.012;DP=266;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.14;ReadPosRankSum=0.213;SOR=0.625	GT:AD:DP:GQ:PL	0/1:39,42:81:99:993,0,900	5	0	1	1
chr3	58653691	58653691	C	T	exonic	FAM3D	.	nonsynonymous SNV	FAM3D:NM_138805:exon3:c.G104A:p.R35H	.	415	1089	18	0	0	18	0.00819672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	.	0.0068	0.00259585	0.0071	0.0018	0.0030	0.0001	0.0057	0.0107	0.0033	0.0032	0.0067981	1051	154602	rs13097314	0.0071	0.0071	0.0071	0.0071	0.0081	0.0070	0.0069	0.0080	0.0079	0.0010	0.0047	0.0005	0.0004	0.0069	0.0042	0.0081	0.0065	0.0030	0.0054	0.0054	0.0056	0.0051	0.0085	0.0051	0.0049	0.0079	0.0077	0.0015	0	0.0062	0.0006	0.0002	0.0057	0	0.0085	0.0052	0.0027	0.105	0.47320	T	0.292	0.20877	T	0.992	0.64738	D	0.599	0.50715	P	0.008602	0.30756	N	0.262588	0.619856	0.32695	D	2.005	0.54552	M	0.6	0.53731	T	-1.2	0.40082	N	0.289	0.32701	-0.8114	0.54466	T	0.115	0.40763	T	10	0.0070091486	0.00159	T	.	.	.	0.063	0.18251	.	.	0.607205898885	0.60405	0.42217253051544185	0.42134	0.130150782498	0.14680	0.343895494938	0.17019	T	0.02659	0.20767	T	-0.42537	0.01582	T	-0.375829	0.36210	T	0.0180318163346801	0.00527	T	0.755524	0.37862	T	0.0651721	0.13902	0.05647457	0.10099	0.0651721	0.13901	0.05647457	0.10098	-3.607	0.17958	T	.	.	0.118	0.28807	B	.;.;.	.;.;.	3.421100	0.47502	22.5	0.99870505638251272	0.94815	0.76413	0.37474	D	AEFBI	0.170758	0.29769	N	0.0978670330124511	0.46363	2.877822	0.0763986621505273	0.43364	2.639726	0.00330133000668038	0.10046	0.516011	0.20929	0	0.563428	0.19063	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	4.26	3.38	0.37806	1.425000	0.34467	0.981000	0.23125	0.589000	0.31548	0.968000	0.34134	0.448000	0.24938	0.640000	0.32422	0.2049:0.795:0.0:0.0	9.779	0.39804	872	0.31118	.;.;.	.	.	.	.	.	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	0.030303	0.002717	0.002924	0.000000	0.000000	0.000000	0.003788	0.07143	974.46	37	chr3	58653691	.	C	T	974.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.383;DP=267;ExcessHet=0;FS=0.799;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.83;ReadPosRankSum=-0.453;SOR=0.563	GT:AD:DP:GQ:PL	0/1:48,42:90:99:985,0,1151	6	0	1	0
chr3	58831882	58831882	T	C	exonic	CFAP20DC	.	nonsynonymous SNV	CFAP20DC:NM_001351530:exon13:c.A1814G:p.D605G,CFAP20DC:NM_001351531:exon13:c.A1364G:p.D455G,CFAP20DC:NM_198463:exon13:c.A1226G:p.D409G,CFAP20DC:NM_001351532:exon14:c.A1049G:p.D350G	.	428	1091	3	0	0	3	0.001373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	0.0181610996355	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.40068	D	0.045	0.49390	D	0.775	0.44108	P	0.273	0.40007	B	0.001997	0.37503	N	0.265449	0.673373	0.33164	D	.	.	.	1.94	0.22678	T	-3.01	0.62518	D	0.447	0.48504	-0.5557	0.66569	T	0.313	0.68326	T	9	0.31014958	0.48495	T	0.018161	0.40130	T	0.115	0.32236	.	.	0.354610295913	0.35065	0.26740883912575636	0.26653	0.342841823336	0.36211	.	.	.	.	.	.	-0.0888978	0.38259	T	-0.365472	0.37417	T	0.935152649879456	0.60316	D	0.79692	0.52334	T	.	.	.	.	.	.	.	.	-6.627	0.51259	T	.	.	0.206	0.59296	B	.;.	.;.	4.330616	0.66357	25.0	0.99802784178528658	0.88728	0.98666	0.85331	D	AEFBI	0.778108	0.71071	D	0.288535272949903	0.55566	3.720732	0.349767466909849	0.58493	4.020149	0.611020928911014	0.21804	0.581397	0.33459	0	0.573888	0.26702	0	0.565031	0.19037	0	0.567892	0.33627	0	.	.	6.04	4.87	0.62877	5.831000	0.69032	5.027000	0.46794	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.970000	0.54328	0.0:0.0:0.1307:0.8693	13.469	0.60726	403	0.82567	.;.	.	.	.	.	.	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	830.53	35	chr3	58831882	.	T	C	830.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.91;DP=261;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.89;ReadPosRankSum=1.1;SOR=0.749	GT:AD:DP:GQ:PL	0/1:53,31:84:99:841,0,1444	6	0	1	0
chr3	63278716	63278716	C	T	exonic	SYNPR	.	nonsynonymous SNV	SYNPR:NM_001130003:exon2:c.C58T:p.L20F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.466	0.323057979674	.	0.00119808	0.0017	0	0	0	0	0.0028	0	0.0013	0.0007891	122	154602	rs201880233	0.0034	0.0032	0.0035	0.0033	0.0039	0.0033	0.0033	0.0038	0.0038	0.0005	0.0011	0.0019	2.798e-05	0.0033	0.0007	0.0039	0.0023	0.0014	0.0021	0.0021	0.0019	0.0025	0.0032	0.0020	0.0019	0.0029	0.0027	0.0005	0	0.0017	0.0009	0	0.0044	0	0.0032	0.0019	0.0014	0.002	0.72154	D	0.012	0.92824	D	.	.	.	.	.	.	.	.	.	.	0.999469	0.47157	D	.	.	.	-0.28	0.67543	T	-2.79	0.74051	D	0.606	0.71587	-0.1649	0.78551	T	0.421	0.76596	T	9	0.02597788	0.00776	T	0.323058	0.91531	D	0.466	0.76156	.	.	0.760164211979	0.75798	0.7131394782975795	0.71255	0.394572771458	0.40613	0.59412997961	0.52076	T	.	.	.	-0.278435	0.10833	T	-0.169003	0.57534	T	0.0367988349799495	0.03121	T	0.913209	0.69058	D	.	.	.	.	.	.	.	.	-10.082	0.74401	D	.	.	0.811	0.77793	P	.;.	.;.	4.607178	0.73027	25.9	0.99900456168318552	0.97275	0.45189	0.27483	N	AEFDBCI	0.093457	0.18910	N	0.602520443262177	0.73333	5.949148	0.551686303537286	0.71512	5.666524	0.999984504260951	0.51787	0.446893	0.09132	0	0.563428	0.19063	0	0.503968	0.08637	0	0.530356	0.10902	0	.	.	5.19	4.3	0.50540	2.149000	0.41869	5.780000	0.49798	0.549000	0.26987	0.992000	0.37556	1.000000	0.68203	0.979000	0.57723	0.0:0.8983:0.0:0.1017	8.727	0.33639	926	0.17793	.;.	.	.	.	.	.	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	0.001062	0.000000	0.000000	0.004132	0.000000	0.000000	0.000000	0.000000	0.07143	929.44	34	chr3	63278716	.	C	T	929.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.601;DP=306;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.2;ReadPosRankSum=0.082;SOR=0.738	GT:AD:DP:GQ:PL	0/1:57,44:101:99:940,0,1346	6	0	1	0
chr3	63912714	63912714	-	GCC	exonic	ATXN7	.	nonframeshift insertion	ATXN7:NM_001177387:exon2:c.116_117insGCC:p.P43_Q44insP,ATXN7:NM_001377406:exon2:c.116_117insGCC:p.P43_Q44insP,ATXN7:NM_000333:exon3:c.116_117insGCC:p.P43_Q44insP,ATXN7:NM_001377405:exon3:c.116_117insGCC:p.P43_Q44insP	Spinocerebellar ataxia 7, Autosomal dominant	30	1415	44	2	31	79	0.0166782	.	.	.	2827531	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	.	0.0151	0	0	0	0.0049	0.0169	0.125	0.0165	0.0008085	125	154602	rs770364745	0.0074	0.0063	0.0073	0.0075	0.0273	0.0072	0.0072	0.0223	0.0205	0.0021	0.0049	0.0091	0.0008	0.0031	0.0273	0.0077	0.0079	0.0069	0.0079	0.0079	0.0079	0.0079	0.0167	0.0075	0.0074	0.0150	0.0143	0.0022	0.0176	0.0167	0.0091	0.0006	0.0026	0.0350	0.0104	0.0132	0.0063	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059524	0.064103	0.051282	0.044776	0.000000	0.214286	0.049296	0.042857	0.08333	519.62	13	chr3	63912714	.	A	AGCC	519.62	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.333;DP=91;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=27.35;ReadPosRankSum=-0.881;SOR=0.42	GT:AD:DP:GQ:PL	0/1:5,14:19:99:529,0,168	5	0	1	1
chr3	78633959	78633959	A	G	exonic	ROBO1	.	nonsynonymous SNV	ROBO1:NM_001145845:exon22:c.T3157C:p.S1053P,ROBO1:NM_133631:exon22:c.T3322C:p.S1108P,ROBO1:NM_002941:exon24:c.T3457C:p.S1153P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.645	0.434206632802	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.151	0.24564	T	0.287	0.21545	T	0.052	0.22494	B	0.035	0.22741	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.275	0.64647	M	-2.75	0.90792	D	-1.04	0.27259	N	0.768	0.86191	0.508	0.90660	D	0.749	0.91426	D	9	0.82341623	0.81532	D	0.434207	0.94040	D	0.645	0.86536	0.391	0.41443	0.92919962095	0.92847	0.31101731231105967	0.31014	0.682588122201	0.60118	0.777273893356	0.78517	T	0.101646	0.40861	T	0.332038	0.85304	D	0.239173	0.85111	D	0.888903379440308	0.53955	D	0.968003	0.88371	D	0.39386642	0.60305	0.32212308	0.58155	0.39386642	0.60305	0.32212308	0.58154	-4.128	0.32867	T	.	.	0.523	0.65894	A	.;.;.;.;.;.	.;.;.;.;.;.	4.242426	0.64330	24.7	0.99815091459211036	0.89885	0.97928	0.78194	D	ALL	0.959048	0.97917	D	0.396331031713412	0.61221	4.320517	0.4731038290936	0.66213	4.922938	0.999999999999998	0.74766	0.661447	0.50134	0	0.623229	0.53319	0	0.644132	0.48003	0	0.668105	0.65232	0	.	.	5.82	5.82	0.92740	8.920000	0.92358	9.349000	0.80281	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.854000	0.40426	1.0:0.0:0.0:0.0	16.183	0.81741	732	0.54084	.;.;.;.;.;.	.	.	.	.	.	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	1400.45	34	chr3	78633959	.	A	G	1400.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.03;DP=349;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.29;ReadPosRankSum=-1.155;SOR=0.737	GT:AD:DP:GQ:PL	0/1:106,63:169:99:1411,0,2631	6	0	1	0
chr3	97876101	97876101	T	A	exonic	CRYBG3	.	nonsynonymous SNV	CRYBG3:NM_153605:exon4:c.T4907A:p.V1636E	.	550	963	7	2	0	11	0.00567888	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000199681	.	.	.	.	.	.	.	.	0.0015368	40	26028	rs563227058	0.0019	0.0014	0.0020	0.0019	0.0058	0.0019	0.0019	0.0037	0.0031	0.0003	0.0010	0.0025	0	4.646e-05	0.0058	0.0021	0.0026	0.0008	0.0014	0.0014	0.0015	0.0013	0.0023	0.0012	0.0012	0.0020	0.0018	0.0005	0	0.0010	0.0032	0	0	0.0136	0.0023	0.0014	0.0006	.	.	.	0.518	0.10536	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.436	0.47487	.	.	.	.	.	.	.	0.082324326	0.13574	T	.	.	.	.	.	.	.	0.511390160789	0.50780	0.018251165105256286	0.01779	.	.	.	.	.	0.006785	0.06218	T	-0.352112	0.04595	T	-0.283488	0.46446	T	.	.	.	0.283372	0.04986	T	0.2454906	0.47508	0.42236373	0.66140	0.2454906	0.47508	0.42236373	0.66140	-6.021	0.46455	T	.	.	0.155	0.34361	B	.	.	0.785365	0.11556	8.151	0.69355214578720015	0.08946	0.05428	0.11301	N	AEFBI	.	.	.	.	.	.	.	.	.	6.40570740953169E-5	0.04366	0.162113	0.03585	0	0.195528	0.04277	0	0.183335	0.04453	0	0.24566	0.04862	0	0.173009	0.29061	4.69	-0.601	0.11054	0.026000	0.13490	-0.205000	0.10907	0.665000	0.62972	0.001000	0.13787	0.000000	0.08366	0.082000	0.17360	0.0:0.3364:0.0:0.6636	8.498	0.32299	798	0.45050	.	.	.	.	.	.	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	2099.44	62	chr3	97876101	.	T	A	2099.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.24;DP=652;ExcessHet=0;FS=1.123;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.93;ReadPosRankSum=-1.147;SOR=0.783	GT:AD:DP:GQ:PL	0/1:109,83:192:99:2110,0,2953	6	0	1	0
chr3	100655097	100655097	G	A	exonic	ADGRG7	.	nonsynonymous SNV	ADGRG7:NM_001308362:exon6:c.G757A:p.A253T,ADGRG7:NM_032787:exon12:c.G1642A:p.A548T	.	.	.	.	.	.	.	.	.	.	.	2469727	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.267	0.0294338348968	7.7e-05	.	1.649e-05	0.0002	0	0	0	0	0	0	1.29e-05	2	154602	rs368926208	1.368e-05	1.368e-05	1.225e-05	1.513e-05	2.987e-05	8.94e-06	7.26e-06	8.52e-06	6.89e-06	2.987e-05	0	0	0	0	0	1.439e-05	1.656e-05	2.319e-05	4.597e-05	4.594e-05	3.855e-05	5.373e-05	0.0001	2.108e-05	1.526e-05	4.729e-05	3.046e-05	0.0001	0	0	0	0	0	0	1.47e-05	0.0005	0	0.007	0.65419	D	0.012	0.63918	D	0.941	0.61523	P	0.233	0.58704	B	0.011076	0.29673	N	0.289256	0.754213	0.29606	N	.	.	.	0.59	0.53943	T	-2.93	0.61284	D	0.541	0.56833	-0.4055	0.71853	T	0.323	0.69177	T	10	0.6052943	0.67140	D	0.029434	0.51946	D	0.267	0.58126	.	.	0.6813124193	0.67860	0.565391247620744	0.56466	0.195825087434	0.21939	0.380387425423	0.22311	T	0.099801	0.40497	T	-0.141956	0.29581	T	-0.205018	0.54171	T	0.880056023597717	0.53005	D	0.779722	0.45238	T	0.14652902	0.33538	0.21818419	0.46512	0.14652902	0.33538	0.21818419	0.46511	-9.195	0.68943	D	.	.	0.326	0.54926	B	.;.	.;.	2.838712	0.37442	20.5	0.99621589468348171	0.75473	0.76548	0.37551	D	AEFBI	0.404592	0.47781	N	0.317745998972681	0.57060	3.871969	0.225467575687849	0.51264	3.310515	0.309882239880683	0.19276	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.59	4.69	0.58546	2.403000	0.44184	6.394000	0.55564	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.013000	0.09966	0.0:0.0:0.6272:0.3728	11.208	0.48008	694	0.58444	GPCR, family 2-like;GPCR, family 2-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	2786.44	33	chr3	100655097	.	G	A	2786.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.179;DP=390;ExcessHet=0;FS=1.749;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.73;ReadPosRankSum=-2.043;SOR=0.854	GT:AD:DP:GQ:PL	0/1:87,116:203:99:2797,0,2089	6	0	1	0
chr3	101849792	101849792	T	C	exonic	NFKBIZ	.	nonsynonymous SNV	NFKBIZ:NM_031419:exon1:c.T164C:p.L55S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.0860264527855	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.516e-06	4.788e-06	0	3.074e-06	1.904e-06	2.5e-07	9e-08	3.2e-07	1.2e-07	0	0	0	0	0	0	1.904e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.894	0.05844	T	0.0	0.02946	B	0.0	0.01387	B	0.159257	0.17715	N	0.457817	1	0.20249	N	-1.61	0.00416	N	0.72	0.50976	T	3.02	0.05035	N	0.065	0.04072	-1.0159	0.25045	T	0.043	0.18326	T	10	0.02606985	0.00783	T	0.086026	0.74653	D	0.081	0.23632	0.143	0.04650	0.0934897674506	0.08844	0.10532647638640785	0.10462	0.319986332736	0.34200	0.839098572731	0.87957	D	0.006717	0.43796	T	-0.099167	0.36562	T	-0.380223	0.35697	T	0.0766983691931172	0.09560	T	0.243776	0.04045	T	0.02863422	0.02232	0.06805178	0.14159	0.02863422	0.02232	0.06805178	0.14159	-2.851	0.08663	T	.	.	0.037	0.00478	B	.;.;.	.;.;.	1.483955	0.19096	14.09	0.49423993077283257	0.04208	0.01056	0.03928	N	ALL	0.013350	0.00174	N	-1.28292530581562	0.03880	0.1741689	-1.17225931950209	0.06376	0.306745	0.99999999999457	0.74766	0.266657	0.04791	1	0.484254	0.07192	0	0.239995	0.05000	1	0.249971	0.05119	0	.	.	4.33	2.49	0.29274	1.244000	0.32381	2.864000	0.35221	-0.387000	0.05364	0.027000	0.20232	0.042000	0.21616	0.347000	0.25591	0.0:0.8049:0.0:0.1951	7.961	0.29234	875	0.30485	.;.;.	.	.	.	.	.	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	1077.27	33	chr3	101849792	.	T	C	1077.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.196;DP=199;ExcessHet=0;FS=1.294;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=27.62;ReadPosRankSum=0.411;SOR=0.498	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:12,27:39:99:0|1:101849791_T_C:1087,0,423:101849791	5	0	1	1
chr3	119866608	119866608	A	T	exonic	GSK3B	.	nonsynonymous SNV	GSK3B:NM_002093:exon9:c.T930A:p.H310Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	0.0251810024445	0.0002	.	0.0002	0	8.651e-05	0	0	0.0003	0	0.0002	0.000194	30	154602	rs34009575	0.0003	0.0003	0.0003	0.0003	0.0004	0.0003	0.0003	0.0003	0.0003	0.0002	9.085e-05	0	0	0.0001	0	0.0004	8.326e-05	0.0001	0.0002	0.0002	0.0003	0.0002	0.0003	0.0002	0.0001	0.0002	0.0002	0.0002	0	6.548e-05	0	0	0	0	0.0003	0	0	0.308	0.14111	T	0.368	0.16570	T	0.29	0.32311	B	0.092	0.30031	B	0.084092	0.20716	N	0.346048	0.644862	0.81001	D	.	.	.	0.32	0.58468	T	-0.2	0.10136	N	0.458	0.49511	-0.7997	0.55162	T	0.130	0.44069	T	9	0.2024383	0.36363	T	0.025181	0.48158	D	0.083	0.24192	0.414	0.45216	0.787797334156	0.78583	0.06801153120324992	0.06739	0.804511610767	0.66400	0.809181451797	0.83367	D	.	.	.	-0.297637	0.08884	T	-0.371824	0.36675	T	0.106899030506611	0.13099	T	0.718628	0.33152	T	.	.	.	.	.	.	.	.	-3.371	0.14669	T	.	.	0.101	0.17615	B	.	.	3.345945	0.46131	22.2	0.9363880845653062	0.23516	0.92637	0.56182	D	AEFBI	0.535147	0.55390	D	0.0350529545015221	0.43456	2.638129	0.15035119897614	0.47159	2.950485	0.732124897314355	0.23065	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	4.37	4.37	0.51830	5.531000	0.66860	9.150000	0.78945	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	1.0:0.0:0.0:0.0	12.368	0.54567	642	0.63909	.	.	.	.	.	.	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	936.83	35	chr3	119866608	.	A	T	936.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.064;DP=264;ExcessHet=0;FS=2.698;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.97;ReadPosRankSum=0.951;SOR=1.005	GT:AD:DP:GQ:PL	0/1:52,42:94:99:947,0,1306	6	0	1	0
chr3	121697608	121697608	C	T	exonic	GOLGB1	.	nonsynonymous SNV	GOLGB1:NM_001256488:exon12:c.G2675A:p.S892N,GOLGB1:NM_001366283:exon12:c.G2792A:p.S931N,GOLGB1:NM_001366284:exon12:c.G2675A:p.S892N,GOLGB1:NM_001256486:exon13:c.G2915A:p.S972N,GOLGB1:NM_001256487:exon13:c.G2798A:p.S933N,GOLGB1:NM_001366282:exon13:c.G2915A:p.S972N,GOLGB1:NM_004487:exon13:c.G2900A:p.S967N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.0055666730905	.	.	0.0002	0	0	0	0	0.0004	0	0	0.0001746	27	154602	rs778004960	6.574e-05	6.636e-05	7.359e-05	5.78e-05	8.457e-05	5.5e-05	5.112e-05	7.05e-05	6.543e-05	2.998e-05	0	0	0	0	0	8.457e-05	1.657e-05	0	1.316e-05	1.314e-05	1.286e-05	1.347e-05	2.942e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.942e-05	0	0	0.261	0.16738	T	0.371	0.16425	T	0.001	0.07471	B	0.003	0.08700	B	0.408103	0.13033	N	0.739273	1	0.08975	N	1.2	0.30300	L	2.45	0.24472	T	-0.05	0.13418	N	0.083	0.05929	-1.0015	0.29488	T	0.036	0.15334	T	10	0.038387537	0.02253	T	0.005567	0.14379	T	0.010	0.01040	.	.	0.170165803431	0.16609	0.037615456697216235	0.03707	0.0975493673825	0.11016	0.338142246008	0.16160	T	0.011343	0.10136	T	-0.518972	0.00446	T	-0.687051	0.06562	T	0.355778306722641	0.27244	T	0.69713	0.36376	T	0.025965443	0.01596	0.04456666	0.05802	0.025965443	0.01595	0.04456666	0.05802	-3.888	0.22948	T	.	.	0.068	0.03372	B	.;.;.;.	.;.;.;.	-0.165862	0.03270	0.558	0.56106229042003131	0.05481	0.03532	0.08721	N	AEFBI	0.039459	0.05734	N	-1.19125646828008	0.05132	0.2332122	-1.23530746019028	0.05352	0.2547985	0.0878450262559025	0.16045	0.706548	0.73137	0	0.724815	0.89359	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.35	-1.89	0.07271	-2.009000	0.01544	-0.178000	0.11160	-0.176000	0.10722	0.000000	0.06391	0.020000	0.20764	0.881000	0.42162	0.1378:0.2768:0.1232:0.4621	2.032	0.03317	398	0.82839	.;.;.;.	.	.	.	.	.	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	131.31	80	chr3	121697608	.	C	T	131.31	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-2.544;DP=478;ExcessHet=2.5225;FS=222.92;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=0.41;ReadPosRankSum=-0.07;SOR=10.1	GT:AD:DP:GQ:PL	0/1:64,28:104:58:58,0,1033	2	0	4	1
chr3	126621836	126621836	C	T	exonic	TXNRD3	.	unknown	UNKNOWN	.	437	1081	3	1	0	5	0.00230734	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.819	.	.	0.000199681	0.0017	0	0	0	0	0.0059	0	0.0001	0.0001811	28	154602	rs199721803	0.0004	0.0004	0.0004	0.0004	0.0007	0.0004	0.0004	0.0004	0.0004	3.169e-05	0.0002	0.0126	0	0	0.0007	0.0001	0.0013	0.0005	0.0005	0.0005	0.0005	0.0004	0.0010	0.0004	0.0003	0.0004	0.0003	4.813e-05	0	6.535e-05	0.0144	0	9.427e-05	0	0.0002	0	0.0010	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	.	.	.	4.69	0.99455	H	.	.	.	.	.	.	0.987	0.99548	1.099	0.99632	D	0.939	0.97999	D	10	0.0356794	0.01828	T	.	.	.	0.819	0.94200	.	.	0.253205268125	0.24938	.	.	.	.	0.660247087479	0.61445	T	0.440711	0.78552	T	0.258143	0.79358	D	0.469287	0.93989	D	0.502362906932831	0.32716	D	0.999049	0.99552	D	0.5987522	0.72624	0.52048945	0.72296	0.5987522	0.72626	0.52048945	0.72296	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	4.653575	0.74205	26.1	0.99767812127005739	0.85666	0.98051	0.79185	D	AEFGBI	0.923895	0.90108	D	0.887130088639511	0.91115	10.72293	0.693737031999722	0.81904	7.636739	0.999999999999794	0.74766	0.740787	0.97801	0	0.573888	0.26702	0	0.658983	0.55881	0	0.673998	0.66042	0	.	.	5.52	5.52	0.82153	7.665000	0.82824	7.544000	0.60141	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.060000	0.15972	0.0:1.0:0.0:0.0	16.941	0.86088	854	0.34840	.;.;.;FAD/NAD(P)-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	.	.	.	.	.	.	.	.	0.07143	989.63	34	chr3	126621836	.	C	T	989.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.431;DP=277;ExcessHet=0;FS=4.876;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.52;ReadPosRankSum=-1.836;SOR=0.824	GT:AD:DP:GQ:PL	0/1:56,48:104:99:1000,0,1184	6	0	1	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	0/1:30,22:52:99:.:.:195,0,561:.	1	0	6	0
chr3	130421335	130421335	G	A	exonic	COL6A5	.	nonsynonymous SNV	COL6A5:NM_001278298:exon27:c.G5012A:p.G1671E,COL6A5:NM_153264:exon27:c.G5012A:p.G1671E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.794	0.167130559847	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	0.723514	0.33642	D	.	.	.	-6.28	0.99614	D	-5.87	0.88630	D	0.94	0.94668	1.094	0.99395	D	0.984	0.99521	D	9	0.985523	0.98809	D	0.167131	0.84557	D	0.794	0.93227	0.951	0.99428	0.644124591191	0.64118	0.9735298133118696	0.97341	0.262336419958	0.28795	0.683480918407	0.64769	T	0.416298	0.76929	T	0.521063	0.94919	D	0.510694	0.94844	D	0.997076034545898	0.90711	D	0.920008	0.71084	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.836	0.79050	P	.	.	5.173918	0.86733	29.0	0.99152888611040157	0.53875	0.94007	0.59833	D	AEFBI	0.669031	0.63661	D	0.704442869841399	0.79923	7.181635	0.635508156860711	0.77535	6.698256	0.245493615527667	0.18621	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.29	5.29	0.74430	4.437000	0.59698	11.608000	0.93525	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.960000	0.51673	0.0:0.0:1.0:0.0	14.806	0.69579	369	0.84396	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.5	1108.37	12	chr3	130421335	.	G	A	1108.37	.	AC=4;AF=0.5;AN=8;BaseQRankSum=-1.486;DP=262;ExcessHet=4.1913;FS=286.714;MLEAC=5;MLEAF=0.625;MQ=60;MQRankSum=0;QD=5.46;ReadPosRankSum=0.879;SOR=8.439	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:38,10:56:99:.:.:202,0,1076:.	0	0	4	3
chr3	130421337	130421337	T	C	exonic	COL6A5	.	nonsynonymous SNV	COL6A5:NM_001278298:exon27:c.T5014C:p.F1672L,COL6A5:NM_153264:exon27:c.T5014C:p.F1672L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.345	0.0596216124172	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0065	0.0007	0.0006	0.0008	0.0006	0.0006	0.0008	0.0007	0.0006	0	0.0001	0.0002	0	0	0.0008	0.0005	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.36709	T	0.041	0.50514	D	.	.	.	.	.	.	.	.	.	.	0.994102	0.23586	N	.	.	.	-3.21	0.93291	D	-4.25	0.76094	D	0.346	0.38746	-0.0234	0.81768	T	0.759	0.91798	D	9	0.33778954	0.50895	T	0.059622	0.67727	D	0.345	0.66676	0.293	0.25560	0.772553812157	0.77047	0.6545526502865353	0.65391	0.0445941632002	0.04821	0.518319308758	0.41390	T	0.066183	0.32881	T	0.0586812	0.59446	T	-0.153485	0.58935	T	0.887333691120148	0.53783	D	0.69513	0.30474	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.712	0.73446	P	.	.	3.513518	0.49220	22.7	0.9944396451167653	0.64921	0.69566	0.34238	D	AEFBI	0.198693	0.32554	N	0.0829394031833179	0.45667	2.819489	0.0156810835164205	0.40442	2.413623	1.72206950552093E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.29	1.49	0.21966	0.820000	0.26979	1.068000	0.23780	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.1594:0.1801:0.0:0.6605	3.899	0.08653	369	0.84396	.	.	.	.	.	.	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	1150.39	14	chr3	130421337	.	T	C	1150.39	.	AC=4;AF=0.5;AN=8;BaseQRankSum=0.181;DP=257;ExcessHet=4.1913;FS=293.182;MLEAC=5;MLEAF=0.625;MQ=60;MQRankSum=0;QD=5.28;ReadPosRankSum=0.977;SOR=8.525	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:38,20:58:99:.:.:280,0,1059:.	0	0	4	3
chr3	130567185	130567185	G	A	exonic	COL6A6	.	nonsynonymous SNV	COL6A6:NM_001102608:exon4:c.G1766A:p.R589K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.395	0.0101411813742	.	0.000199681	1.699e-05	0.0002	0	0	0	0	0	0	1.94e-05	3	154602	rs545500523	4.106e-06	4.104e-06	5.447e-06	2.751e-06	0.0002	1.48e-06	9.7e-07	7.712e-05	5.305e-05	0.0002	0	0	0	0	0	0	0	0	2.626e-05	2.625e-05	2.57e-05	2.685e-05	9.624e-05	8.14e-06	5.14e-06	3.243e-05	1.91e-05	9.624e-05	0	0	0	0	0	0	0	0	0	0.11	0.29158	T	0.002	0.79402	D	0.374	0.34192	B	0.119	0.32162	B	0.000336	0.45700	D	0.097898	1	0.08975	N	1.535	0.38868	L	-1.72	0.83241	D	-1.91	0.44471	N	0.406	0.44666	-0.6988	0.60495	T	0.380	0.73684	T	10	0.122849554	0.23312	T	0.010141	0.26324	T	0.395	0.71004	.	.	0.33340067248	0.32956	0.6413208069066034	0.64067	0.162093636695	0.18288	0.422310441732	0.28154	T	0.051316	0.28845	T	-0.173488	0.24710	T	-0.207545	0.53930	T	0.140787301227498	0.16344	T	0.670533	0.27914	T	0.3079094	0.53604	0.28061116	0.54038	0.3079094	0.53604	0.28061116	0.54037	-4.564	0.31716	T	.	.	0.090	0.12702	B	.	.	2.617839	0.34010	19.51	0.98342632529413943	0.40457	0.62981	0.31948	D	AEFBI	0.221255	0.34590	N	-0.398672853726351	0.25517	1.385699	-0.344420472098544	0.26682	1.475386	2.22281323331178E-4	0.06048	0.603402	0.35316	0	0.548873	0.16688	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.5	3.72	0.41857	3.550000	0.53438	4.003000	0.41092	-0.113000	0.14837	1.000000	0.71638	1.000000	0.68203	0.304000	0.24594	0.2392:0.0:0.7608:0.0	8.466	0.32115	634	0.64659	von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A	.	.	.	.	.	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	121.27	62	chr3	130567185	.	G	A	121.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-4.039;DP=376;ExcessHet=0;FS=30;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=1.21;ReadPosRankSum=1.59;SOR=5.047	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:88,12:100:99:0|1:130567183_G_A:131,0,3565:130567183	5	0	1	1
chr3	130567187	130567187	G	C	exonic	COL6A6	.	nonsynonymous SNV	COL6A6:NM_001102608:exon4:c.G1768C:p.V590L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.391	0.0189373461549	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.232e-05	0.0012	4.868e-05	5.596e-05	6.371e-05	4.252e-05	3.912e-05	5.089e-05	4.677e-05	3.097e-05	0	0	0	0	0	6.371e-05	6.872e-05	1.178e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.002	0.79402	D	0.08	0.24543	B	0.046	0.24676	B	0.001451	0.38980	N	0.114240	0.999999	0.08975	N	2.165	0.60562	M	-1.26	0.79176	T	-2.08	0.47514	N	0.347	0.38848	-0.5426	0.67065	T	0.392	0.74597	T	10	0.2660099	0.44102	T	0.018937	0.41162	T	0.391	0.70684	0.61	0.74300	0.418095516054	0.41424	0.5657853470850149	0.56506	0.080742506992	0.09089	0.404221683741	0.25655	T	0.113633	0.43082	T	0.0139342	0.53561	T	-0.217761	0.52952	T	0.248262226581573	0.22795	T	0.767723	0.39623	T	0.33217052	0.55648	0.36591178	0.61931	0.33217052	0.55648	0.36591178	0.61930	-4.882	0.35532	T	.	.	0.193	0.41249	B	.	.	2.506353	0.32366	19.02	0.98697456208970824	0.44852	0.84425	0.43507	D	AEFBI	0.281125	0.39478	N	-0.172467142888867	0.34285	1.955039	-0.115595093862224	0.34761	2.003213	4.60474207476358E-4	0.07036	0.603402	0.35316	0	0.548873	0.16688	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.5	4.63	0.57175	1.195000	0.31795	5.827000	0.50131	0.676000	0.76740	0.770000	0.29357	1.000000	0.68203	0.366000	0.26021	0.2276:0.0:0.7724:0.0	8.935	0.34853	634	0.64659	von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A	.	.	.	.	.	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	133.43	53	chr3	130567187	.	G	C	133.43	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-4.064;DP=400;ExcessHet=0;FS=30.283;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=1.39;ReadPosRankSum=1.65;SOR=5.136	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:84,12:96:99:0|1:130567183_G_A:143,0,3453:130567183	5	0	1	1
chr3	130567188	130567188	T	C	exonic	COL6A6	.	nonsynonymous SNV	COL6A6:NM_001102608:exon4:c.T1769C:p.V590A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.286	0.0142214762606	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1159023458	1.374e-06	5.959e-05	1.367e-06	1.38e-06	1.807e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.807e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.40319	D	0.098	0.39040	T	0.004	0.12183	B	0.011	0.15521	B	0.001451	0.38980	N	0.114240	0.999999	0.08975	N	1.875	0.49914	L	-1.28	0.79376	T	-2.82	0.59545	D	0.146	0.14763	-0.5915	0.65161	T	0.437	0.77663	T	10	0.19625989	0.35511	T	0.014221	0.34189	T	0.286	0.60456	0.685	0.82271	0.387529464389	0.38369	0.5496375422416154	0.54889	0.0697944257895	0.07817	0.416908562183	0.27412	T	0.059197	0.31052	T	-0.0570473	0.43367	T	-0.319721	0.42606	T	0.157308384776115	0.17670	T	0.553245	0.19112	T	0.23264664	0.46055	0.25741926	0.51458	0.23264664	0.46055	0.25741926	0.51457	-5.899	0.45427	T	.	.	0.118	0.24020	B	.	.	1.491384	0.19183	14.13	0.97905060155362733	0.36773	0.16878	0.19590	N	AEFBI	0.104465	0.20901	N	-0.469991560646056	0.23067	1.23618	-0.443091986715802	0.23745	1.296543	1.92770655783223E-4	0.05898	0.603402	0.35316	0	0.548873	0.16688	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.5	4.34	0.51267	0.298000	0.18874	1.185000	0.24724	0.665000	0.62972	0.053000	0.21524	0.914000	0.28189	0.389000	0.26536	0.0:0.0737:0.0:0.9263	11.008	0.46862	634	0.64659	von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1	137.17	56	chr3	130567188	.	T	C	137.17	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-4.866;DP=383;ExcessHet=0;FS=30.346;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=1.44;ReadPosRankSum=1.54;SOR=5.136	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:83,12:95:99:0|1:130567183_G_A:146,0,3442:130567183	4	0	1	2
chr3	133947398	133947398	T	C	exonic	SLCO2A1	.	nonsynonymous SNV	SLCO2A1:NM_005630:exon9:c.A1153G:p.I385V	Hypertrophic osteoarthropathy, primary, autosomal recessive 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.0135174260585	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.287e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.06992	T	0.278	0.32022	B	0.214	0.37471	B	0.000082	0.51296	D	0.172856	0.998569	0.45092	D	1.025	0.25523	L	0.34	0.58176	T	-0.08	0.09297	N	0.286	0.32370	-1.0337	0.19268	T	0.088	0.33913	T	10	0.1741527	0.32279	T	0.013517	0.32986	T	0.103	0.29403	0.552	0.66856	0.456368778954	0.45261	0.17417772395812692	0.17336	0.180607798138	0.20310	0.483463734388	0.36534	T	0.058665	0.30903	T	-0.178178	0.24006	T	-0.493717	0.23001	T	0.238408386707306	0.22346	T	0.763624	0.39028	T	0.072592154	0.16160	0.090469114	0.21215	0.072592154	0.16159	0.090469114	0.21214	-2.945	0.09600	T	0.1471760560640755	0.17034	0.085	0.18122	B	.;.	.;.	1.737092	0.22105	15.48	0.72376456997053173	0.09952	0.69810	0.34336	D	AEFDBI	0.285429	0.39806	N	-0.239153582156905	0.31538	1.769466	-0.054687819197049	0.37289	2.181248	0.999827058612655	0.43622	0.740787	0.97801	0	0.59043	0.45803	0	0.658983	0.55881	0	0.673998	0.66042	0	.	.	5.58	5.58	0.84361	1.446000	0.34701	2.941000	0.35666	-0.715000	0.03906	0.917000	0.31872	0.999000	0.35428	0.795000	0.37519	0.0:0.0:0.1413:0.8587	12.297	0.54172	713	0.56348	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	.	.	.	.	.	.	.	.	0.2857	316.78	52	chr3	133947398	.	T	C	316.78	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-2.623;DP=432;ExcessHet=2.5225;FS=306.077;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=1.1;ReadPosRankSum=0.518;SOR=8.862	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:61,29:90:99:.:.:232,0,1112:.	3	0	4	0
chr3	142555928	142555928	T	C	exonic	ATR	.	nonsynonymous SNV	ATR:NM_001354579:exon9:c.A2098G:p.K700E,ATR:NM_001184:exon10:c.A2290G:p.K764E	Seckel syndrome 1, Autosomal recessive	0	1511	11	0	0	11	0.00362677	.	.	.	167817	not_provided|Seckel_syndrome_1	MedGen:C3661900|MONDO:MONDO:0008869,MedGen:C4551474,OMIM:210600,Orphanet:808	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.215	.	0.0045	0.00199681	0.0033	0.0004	0.0018	0	0.0017	0.0050	0.0066	0.0011	0.0032535	503	154602	rs77208665	0.0047	0.0047	0.0050	0.0044	0.0054	0.0046	0.0046	0.0053	0.0053	0.0006	0.0023	0.0067	0	0.0021	0.0031	0.0054	0.0062	0.0008	0.0034	0.0034	0.0033	0.0034	0.0061	0.0031	0.0030	0.0051	0.0047	0.0007	0	0.0061	0.0052	0	0.0014	0.0034	0.0051	0.0028	0.0015	0.042	0.41637	D	0.021	0.58089	D	0.919	0.50927	P	0.395	0.44317	B	0.009862	0.30165	N	0.311222	0.998222	0.44650	D	1.59	0.40313	L	-0.14	0.65006	T	-1.11	0.28703	N	0.623	0.63798	-1.0098	0.26981	T	0.111	0.39935	T	10	0.009344518	0.00211	T	.	.	.	0.215	0.50805	.	.	0.792939480828	0.79101	0.3362146147416776	0.33534	0.526905215403	0.50308	0.490908294916	0.37565	T	0.076738	0.35490	T	-0.252799	0.13758	T	-0.133709	0.60658	T	0.0107096127492219	0.00151	T	0.887811	0.61653	D	0.36434728	0.58164	0.20110196	0.44074	0.31333968	0.54073	0.18879761	0.42189	-4.008	0.23923	T	.	.	0.164	0.36254	B	.	.	2.711622	0.35441	19.90	0.99745305523242089	0.83852	0.95189	0.63766	D	AEFBI	0.510940	0.53978	D	-0.0307360539605847	0.40468	2.40367	0.00525670510493034	0.39957	2.377221	0.920366960681741	0.26629	0.651	0.46895	0	0.653731	0.59785	0	0.463624	0.06942	0	0.683762	0.67416	0	.	.	5.35	4.16	0.48138	4.137000	0.57773	7.886000	0.72778	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.800000	0.37734	0.0:0.0:0.1399:0.8601	12.490	0.55234	616	0.66398	.	.	.	.	.	.	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	0.002520	0.000000	0.001359	0.002924	0.000000	0.008621	0.006135	0.000000	0.07143	791.63	42	chr3	142555928	.	T	C	791.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.93;DP=268;ExcessHet=0;FS=1.918;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.65;ReadPosRankSum=-0.086;SOR=1.032	GT:AD:DP:GQ:PL	0/1:50,32:82:99:802,0,1218	6	0	1	0
chr3	142963229	142963229	G	C	exonic	PAQR9	.	nonsynonymous SNV	PAQR9:NM_198504:exon1:c.C108G:p.D36E,PAQR9:NM_001375300:exon2:c.C108G:p.D36E,PAQR9:NM_001375301:exon2:c.C108G:p.D36E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.00515372560201	.	.	.	.	.	.	.	.	.	.	.	.	.	rs941046772	1.43e-06	1.368e-06	0	2.899e-06	0.0004	2.4e-07	9e-08	6.196e-05	2.56e-05	0	0	0	0	0	0.0004	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.791	0.04181	T	0.0	0.02946	B	0.0	0.01387	B	0.071067	0.02251	N	2.180360	1	0.08975	N	0	0.06538	N	2.11	0.19860	T	0.17	0.05125	N	0.044	0.01658	-0.9876	0.33200	T	0.016	0.06664	T	10	0.047370315	0.04046	T	0.005154	0.13094	T	0.011	0.01250	0.235	0.16457	0.147330786459	0.14319	0.28999020962075867	0.28912	1.0664861996	0.76637	0.75339114666	0.74947	T	0.011433	0.10204	T	-0.376227	0.03290	T	-0.762715	0.03016	T	0.0218611865744941	0.00893	T	0.30387	0.05776	T	0.04118691	0.06020	0.02974732	0.01347	0.04118691	0.06020	0.02974732	0.01347	-2.566	0.06249	T	.	.	0.085	0.10062	B	.	.	0.407841	0.07786	4.477	0.81385274906856653	0.13659	0.04068	0.09521	N	AEFDBHCI	0.066295	0.12975	N	-1.48405691132467	0.01962	0.08616476	-1.48065814440583	0.02503	0.115229	0.999990536658328	0.74766	0.652421	0.48094	0	0.596491	0.49125	0	0.64067	0.45733	0	0.554799	0.18163	0	.	.	3.75	-3.88	0.03927	-1.356000	0.02716	0.533000	0.19265	0.650000	0.52971	0.000000	0.06391	0.000000	0.08366	0.137000	0.19835	0.2932:0.4035:0.3032:0.0	5.812	0.17734	917	0.20147	.	.	.	.	.	.	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	730.63	32	chr3	142963229	.	G	C	730.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.867;DP=243;ExcessHet=0;FS=0.954;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.61;ReadPosRankSum=-0.608;SOR=0.542	GT:AD:DP:GQ:PL	0/1:45,31:76:99:741,0,1181	6	0	1	0
chr3	146196750	146196750	G	A	exonic	PLSCR4	.	nonsynonymous SNV	PLSCR4:NM_001177304:exon4:c.C353T:p.A118V,PLSCR4:NM_001128306:exon5:c.C398T:p.A133V,PLSCR4:NM_001128305:exon7:c.C668T:p.A223V,PLSCR4:NM_020353:exon7:c.C668T:p.A223V,PLSCR4:NM_001128304:exon9:c.C668T:p.A223V	.	.	.	.	.	.	.	.	.	.	.	2765509	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.120	0.00635104339828	.	0.000399361	0.0003	0.0002	0.0002	0	0	7.546e-05	0	0.0014	0.0002199	34	154602	rs530088310	0.0001	0.0001	6.127e-05	0.0002	0.0014	9.874e-05	9.283e-05	0.0012	0.0011	0.0001	2.239e-05	0	7.557e-05	0	0.0002	2.069e-05	0.0002	0.0014	8.545e-05	8.534e-05	0.0001	6.722e-05	0.0008	4.959e-05	3.964e-05	0.0003	0.0002	9.639e-05	0	0	0	0.0002	0	0	4.412e-05	0.0005	0.0008	0.382	0.30943	T	0.326	0.19660	T	0.835	0.46254	P	0.202	0.36942	B	0.728036	0.09879	N	0.872632	1	0.08975	N	0.55	0.14455	N	1.53	0.30401	T	-0.41	0.41428	N	0.184	0.25130	-1.0722	0.08936	T	0.026	0.10998	T	10	0.017791122	0.00382	T	0.006351	0.16696	T	0.120	0.33359	.	.	0.171388866994	0.16791	0.2040212907904582	0.20319	0.117339012164	0.13225	0.341113090515	0.16605	T	0.001271	0.02014	T	-0.459381	0.00992	T	-0.468023	0.25730	T	0.0238315457891075	0.01124	T	0.381662	0.27241	T	0.067221455	0.14536	0.050460473	0.07925	0.067221455	0.14535	0.050460473	0.07925	-3.148	0.23968	T	.	.	0.104	0.32128	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.333980	0.17395	13.14	0.99584070951639803	0.73218	0.02857	0.07619	N	AEFGBI	0.100446	0.20196	N	-0.683395399569293	0.16495	0.8409094	-0.68270981100655	0.17394	0.9246437	0.999755201675674	0.42595	0.722319	0.85440	0	0.573888	0.26702	0	0.602189	0.34648	0	0.735409	0.98432	0	.	.	5.17	0.867	0.18222	-0.098000	0.10993	-0.157000	0.11360	0.672000	0.70159	0.000000	0.06391	0.000000	0.08366	0.962000	0.52141	0.2638:0.1487:0.2823:0.3053	0.257	0.00198	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	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.003788	0.07143	1371.53	34	chr3	146196750	.	G	A	1371.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.031;DP=342;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.31;ReadPosRankSum=-0.475;SOR=0.683	GT:AD:DP:GQ:PL	0/1:101,64:165:99:1382,0,2430	6	0	1	0
chr3	148741765	148741765	G	T	exonic	AGTR1	.	nonsynonymous SNV	AGTR1:NM_001382736:exon2:c.G730T:p.A244S,AGTR1:NM_009585:exon2:c.G730T:p.A244S,AGTR1:NM_000685:exon3:c.G730T:p.A244S,AGTR1:NM_001382737:exon3:c.G730T:p.A244S,AGTR1:NM_004835:exon3:c.G835T:p.A279S,AGTR1:NM_032049:exon3:c.G817T:p.A273S,AGTR1:NM_031850:exon4:c.G835T:p.A279S	Renal tubular dysgenesis, Autosomal recessive	0	1495	27	0	0	27	0.00894929	.	.	.	697877	Renal_tubular_dysgenesis|Renal_tubular_dysgenesis_of_genetic_origin|not_provided	Human_Phenotype_Ontology:HP:0008660,MONDO:MONDO:0017609,MedGen:C0266313,Orphanet:3033|MONDO:MONDO:0009970,MedGen:C5681536,OMIM:267430,Orphanet:97369|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.203	.	0.0035	0.00259585	0.0041	0.0006	0.0009	0	0.0005	0.0045	0.0067	0.0099	0.0037386	578	154602	rs12721225	0.0039	0.0039	0.0036	0.0042	0.0095	0.0038	0.0038	0.0089	0.0087	0.0004	0.0009	0.0121	0	0.0011	0.0068	0.0037	0.0041	0.0095	0.0026	0.0026	0.0027	0.0025	0.0088	0.0024	0.0023	0.0067	0.0059	0.0007	0	0.0008	0.0135	0	0.0004	0.0136	0.0037	0.0033	0.0088	0.0	0.91255	D	0.028	0.58089	D	0.995	0.67487	D	0.971	0.72444	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.25	0.63811	M	1.35	0.34648	T	-2.45	0.53577	N	0.335	0.39558	-0.7182	0.59551	T	0.179	0.52536	T	10	0.008590668	0.00195	T	.	.	.	0.203	0.48915	.	.	0.76893090584	0.76681	0.41110278085935276	0.41026	.	.	0.634834647179	0.57830	T	0.616481	0.87918	D	-0.258494	0.13077	T	-0.137263	0.60356	T	0.0268276710647454	0.01519	T	0.840916	0.51656	T	0.78755105	0.83120	0.6933731	0.81951	0.86457974	0.88438	0.6971618	0.82167	-4.317	0.28414	T	.	.	0.197	0.43734	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.336420	0.66495	25.0	0.99690017490504323	0.79842	0.99212	0.92884	D	AEFI	0.951920	0.96692	D	0.816296992742933	0.87116	9.107697	0.796776669456628	0.89570	10.02896	0.999999999890723	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.48	5.48	0.80675	6.859000	0.75265	8.655000	0.77949	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	19.387	0.94551	489	0.76795	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;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	0	0	1	0	0.006546	0.000000	0.001359	0.002924	0.000000	0.008621	0.018293	0.011364	0.07143	1182.45	33	chr3	148741765	.	G	T	1182.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.122;DP=298;ExcessHet=0;FS=2.505;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.05;ReadPosRankSum=-0.953;SOR=0.926	GT:AD:DP:GQ:PL	0/1:57,50:107:99:1193,0,1437	6	0	1	0
chr3	155763665	155763665	G	T	exonic	C3orf33	.	nonsynonymous SNV	C3orf33:NM_001308229:exon5:c.C737A:p.T246K,C3orf33:NM_173657:exon6:c.C608A:p.T203K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	0.00481951629936	0.0002	.	0.0002	0.0002	0.0003	0	0	0.0003	0	0	0.0001746	27	154602	rs201584610	0.0002	0.0002	0.0002	0.0002	0.0040	0.0002	0.0002	0.0028	0.0023	0.0002	0.0007	3.929e-05	0	0	0.0040	0.0002	0.0002	4.965e-05	0.0003	0.0003	0.0003	0.0004	0.0017	0.0002	0.0002	0.0012	0.0010	0.0001	0	0.0017	0	0	0	0.0032	0.0002	0.0005	0	0.045	0.41637	D	0.534	0.10354	T	0.034	0.20480	B	0.04	0.23831	B	0.295847	0.03924	N	1.498850	1	0.08975	N	1.525	0.38595	L	1.03	0.40469	T	-0.84	0.22944	N	0.122	0.11340	-0.9937	0.31643	T	0.073	0.29707	T	10	0.026310086	0.00800	T	0.00482	0.12066	T	0.055	0.15663	.	.	0.188950314367	0.18478	0.13022107770848776	0.12947	0.176979797183	0.19917	.	.	.	0.001129	0.00635	T	-0.60717	0.00132	T	-0.6426	0.09482	T	0.00968865749001455	0.00127	T	0.623338	0.24021	T	0.08261384	0.19039	0.086538844	0.20057	0.08261384	0.19039	0.086538844	0.20057	-2.538	0.06046	T	.	.	0.087	0.11414	B	.;.	.;.	0.163220	0.05536	1.995	0.71641786794433948	0.09698	0.03076	0.07990	N	AEFI	0.057922	0.10829	N	-1.09961387046809	0.06651	0.30676	-1.2090080964536	0.05764	0.275574	0.159634607634042	0.17572	0.615465	0.37627	0	0.633656	0.55848	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	4.6	-5.06	0.02725	-0.409000	0.07223	-0.422000	0.09278	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.850000	0.40195	0.1455:0.1292:0.5962:0.129	4.925	0.13239	850	0.35610	.;.	.	.	.	.	.	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	0.005435	0.008772	0.000000	0.000000	0.000000	0.003788	0.08333	333.23	33	chr3	155763665	.	G	T	333.23	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.794;DP=231;ExcessHet=0;FS=1.076;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=5.85;ReadPosRankSum=-0.507;SOR=0.866	GT:AD:DP:GQ:PL	0/1:39,18:57:99:343,0,1113	5	0	1	1
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|1:107,29:136:99:0|1:155853644_G_C:228,0,3777:155853644	3	0	4	0
chr3	155853646	155853646	G	A	exonic	SLC33A1	.	nonsynonymous SNV	SLC33A1:NM_001190992:exon1:c.C352T:p.P118S,SLC33A1:NM_001363883:exon1:c.C352T:p.P118S,SLC33A1:NM_004733:exon1:c.C352T:p.P118S	Congenital cataracts, hearing loss, and neurodegeneration, Autosomal recessive;Spastic paraplegia 42, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.884	0.26441884066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	3.19	0.88972	M	-1.38	0.80301	T	-7.83	0.96005	D	0.908	0.90932	0.736	0.93619	D	0.747	0.91359	D	10	0.9726635	0.96917	D	0.264419	0.89636	D	0.884	0.96614	0.878	0.96734	0.965889320013	0.96552	0.9090685925036052	0.90880	2.253141148	0.96121	0.804085373878	0.82587	D	0.791811	0.94599	D	0.429981	0.91531	D	0.379861	0.91426	D	0.999662041664124	0.98390	D	0.999705	0.99908	D	0.9068161	0.92000	0.9047807	0.95316	0.9068161	0.92001	0.9047807	0.95317	-12.527	0.87323	D	0.973445658806593	0.99205	0.989	0.94165	P	.;.;.;.	.;.;.;.	5.407850	0.90534	31	0.99921391491893274	0.98787	0.94332	0.60828	D	AEFDBCI	.	.	.	0.924929507467059	0.92926	11.71334	0.845487219852171	0.92750	11.60935	0.999999999962498	0.74766	0.542737	0.22433	0	0.52208	0.09955	0	0.685571	0.62057	0	0.56214	0.19341	0	.	.	5.57	4.67	0.58089	9.628000	0.97812	11.860000	0.98299	0.675000	0.71128	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.1307:0.8693:0.0	16.551	0.84321	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	.	.	.	.	.	.	.	.	0.07143	217.53	42	chr3	155853646	.	G	A	217.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-5.443;DP=379;ExcessHet=0;FS=91.536;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=1.6;ReadPosRankSum=0.157;SOR=6.803	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:107,29:136:99:0|1:155853644_G_C:228,0,3777:155853644	6	0	1	0
chr3	179210561	179210561	G	T	exonic	PIK3CA	.	nonsynonymous SNV	PIK3CA:NM_006218:exon9:c.G1535T:p.G512V	Breast cancer, somatic;CLOVE syndrome, somatic;Colorectal cancer, somatic;Cowden syndrome 5;Gastric cancer, somatic;Hepatocellular carcinoma, somatic;Keratosis, seborrheic, somatic;Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic;Nevus, epidermal, somatic;Nonsmall cell lung cancer, somatic;Ovarian cancer, somatic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.346	0.0253827483572	.	.	1.662e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs200031978	1.369e-06	1.368e-06	1.362e-06	1.376e-06	1.162e-05	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.995e-07	0	1.162e-05	6.576e-06	6.568e-06	0	1.346e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.058	0.37750	T	0.014	0.62352	D	0.0	0.02946	B	0.001	0.04355	B	0.000019	0.62929	D	0.116409	1	0.81001	D	0.55	0.14455	N	-0.7	0.72785	T	-1.01	0.26639	N	0.491	0.52475	-0.8521	0.51823	T	0.221	0.58434	T	10	0.33564585	0.50718	T	0.025383	0.48351	D	0.346	0.66769	0.376	0.38994	0.95303604743	0.95253	0.7787790038986625	0.77828	1.02087520744	0.75113	0.648184418678	0.59728	T	0.430733	0.77910	T	0.15521	0.69755	D	0.167	0.81212	D	0.452835619449615	0.30901	T	0.894511	0.63379	D	0.4613256	0.64753	0.36927372	0.62201	0.4613256	0.64754	0.36927372	0.62200	-3.879	0.21988	T	.	.	0.156	0.34427	B	.;.	.;.	3.257501	0.44530	22.0	0.99077139813533555	0.51882	0.98471	0.83126	D	AEFBI	0.585501	0.58390	D	-0.0396023400152727	0.40068	2.37329	0.179306350400847	0.48715	3.083662	0.999998914642976	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.43	5.43	0.79006	5.488000	0.66589	7.458000	0.59026	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	19.240	0.93864	797	0.45241	.;.	.	.	.	.	.	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	1112.53	34	chr3	179210561	.	G	T	1112.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.572;DP=283;ExcessHet=0;FS=4.949;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.02;ReadPosRankSum=0.912;SOR=0.997	GT:AD:DP:GQ:PL	0/1:53,48:101:99:1123,0,1281	6	0	1	0
chr3	179875393	179875393	T	C	exonic	PEX5L	.	nonsynonymous SNV	PEX5L:NM_001349404:exon2:c.A14G:p.K5R,PEX5L:NM_001349401:exon3:c.A14G:p.K5R,PEX5L:NM_001256753:exon4:c.A413G:p.K138R,PEX5L:NM_001349397:exon4:c.A362G:p.K121R,PEX5L:NM_001349398:exon4:c.A323G:p.K108R,PEX5L:NM_001349399:exon4:c.A14G:p.K5R,PEX5L:NM_001349410:exon4:c.A14G:p.K5R,PEX5L:NM_001256751:exon5:c.A518G:p.K173R,PEX5L:NM_001256752:exon5:c.A485G:p.K162R,PEX5L:NM_001256755:exon5:c.A266G:p.K89R,PEX5L:NM_001256756:exon5:c.A14G:p.K5R,PEX5L:NM_001349392:exon5:c.A557G:p.K186R,PEX5L:NM_001349396:exon5:c.A389G:p.K130R,PEX5L:NM_001349406:exon5:c.A14G:p.K5R,PEX5L:NM_001349409:exon5:c.A14G:p.K5R,PEX5L:NM_001256750:exon6:c.A584G:p.K195R,PEX5L:NM_001256754:exon6:c.A461G:p.K154R,PEX5L:NM_001349388:exon6:c.A662G:p.K221R,PEX5L:NM_001349390:exon6:c.A650G:p.K217R,PEX5L:NM_001349391:exon6:c.A560G:p.K187R,PEX5L:NM_001349393:exon6:c.A557G:p.K186R,PEX5L:NM_001349394:exon6:c.A467G:p.K156R,PEX5L:NM_001349395:exon6:c.A461G:p.K154R,PEX5L:NM_001349408:exon6:c.A14G:p.K5R,PEX5L:NM_016559:exon6:c.A590G:p.K197R,PEX5L:NM_001349386:exon7:c.A755G:p.K252R,PEX5L:NM_001349387:exon7:c.A662G:p.K221R,PEX5L:NM_001349389:exon7:c.A656G:p.K219R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.243	0.0495455773261	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1168289704	6.843e-07	6.841e-07	1.362e-06	0	1.16e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.16e-05	6.573e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.159	0.54683	T	0.5	0.17014	T	0.001	0.09854	B	0.001	0.10090	B	0.000131	0.49741	D	0.208224	0.833021	0.34947	D	-0.285	0.03692	N	-2.41	0.88533	D	-0.58	0.62151	N	0.149	0.28028	-0.0705	0.80769	T	0.405	0.75480	T	10	0.17771786	0.32821	T	0.049546	0.63858	D	0.243	0.54921	0.177	0.08379	0.850612038419	0.84917	0.052743420041366534	0.05216	0.332146085643	0.35272	0.558086872101	0.46998	T	0.14757	0.48571	T	-0.0127884	0.49874	T	-0.159292	0.58416	T	0.355630586668074	0.27238	T	0.924308	0.87805	D	0.09883906	0.23318	0.102368966	0.24533	0.09883906	0.23318	0.102368966	0.24533	-2.884	0.13290	T	.	.	0.068	0.15832	B	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	2.443452	0.31453	18.75	0.98374719373518138	0.40791	0.83854	0.42947	D	AEFI	0.526466	0.54881	D	-0.115640796306405	0.36710	2.125712	0.10890525433459	0.45004	2.771324	0.74846796713477	0.23321	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.88	5.88	0.94564	2.924000	0.48572	5.082000	0.47276	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.971000	0.54645	0.0:0.0:0.1434:0.8566	12.983	0.57974	794	0.45591	.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	95.53	42	chr3	179875393	.	T	C	95.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-6.858;DP=432;ExcessHet=0;FS=146.866;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=0.45;ReadPosRankSum=1.82;SOR=7.275	GT:AD:DP:GQ:PL	0/1:175,38:213:99:106,0,3756	6	0	1	0
chr3	195779059	195779059	C	0	exonic	MUC4	.	.	.	.	665	654	51	57	95	260	0.112016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	265.06	181	chr3	195779059	.	C	*	265.06	.	AC=3;AF=0.5;AN=6;DP=1688;ExcessHet=0;FS=0;MLEAC=4;MLEAF=0.667;MQ=52.07;QD=0.59;SOR=0.978	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,261:273:99:1|1:195779059_C_*:9549,679,0:195779059	1	1	1	4
chr3	195780034	195780034	A	0	exonic;splicing	MUC4;MUC4	NM_001322468:exon15:c.10105+1T>0	.	.	.	487	564	422	42	7	513	0.30967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	6283.65	148	chr3	195780034	.	A	*	6283.65	.	AC=5;AF=0.357;AN=14;DP=1829;ExcessHet=0.3696;FS=0;MLEAC=5;MLEAF=0.357;MQ=53.76;QD=5.53;SOR=0.7	GT:AD:DP:GQ:PL	0/1:65,183:248:99:5046,0,2193	3	1	3	0
chr3	195780371	195780371	-	TGAGGAAGTGCTGGTGACAGGAAGAGGGGTGGCCTGACCTGTGGATGA	exonic;splicing	MUC4;MUC4	NM_001322468:exon15:c.9770-1->TCATCCACAGGTCAGGCCACCCCTCTTCCTGTCACCAGCACTTCCTCA	nonframeshift insertion	MUC4:NM_018406:exon2:c.11208_11209insTCATCCACAGGTCAGGCCACCCCTCTTCCTGTCACCAGCACTTCCTCA:p.S3736_A3737insSSTGQATPLPVTSTSS	.	1	82	100	38	5	181	0.517647	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0025	0.0077	0	0	0	0.0041	0	0.0003	0.0001488	23	154602	.	0.0070	0.0048	0.0071	0.0070	0.0084	0.0069	0.0068	0.0073	0.0069	0.0045	0.0084	0.0061	4.682e-05	0.0248	0.0074	0.0066	0.0096	0.0022	0.0055	0.0036	0.0050	0.0059	0.0068	0.0049	0.0047	0.0059	0.0055	0.0022	0	0.0068	0.0038	0.0008	0.0134	0	0.0068	0.0088	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	25007.5	76	chr3	195780371	.	C	CTGAGGAAGTGCTGGTGACAGGAAGAGGGGTGGCCTGACCTGTGGATGA	25007.5	.	AC=1;AF=0.1;AN=10;BaseQRankSum=0.771;DP=2727;ExcessHet=0.4813;FS=2.564;MLEAC=1;MLEAF=0.1;MQ=57.3;MQRankSum=-1.72;QD=32.52;ReadPosRankSum=2.44;SOR=0.532	GT:AD:DP:GQ:PL	0/1:9,158:265:99:14720,4257,9641	4	0	1	2
chr3	195780499	195780499	G	0	exonic	MUC4	.	.	.	.	0	114	53	2	57	114	0.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	5427.33	274	chr3	195780499	.	G	*	5427.33	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.61;DP=2105;ExcessHet=0.3696;FS=0.662;MLEAC=2;MLEAF=0.143;MQ=54.04;MQRankSum=-0.232;QD=3.65;ReadPosRankSum=-2.018;SOR=0.627	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:10,467:505:99:0|1:195780452_T_C:20159,1843,737:195780452	5	0	2	0
chr3	195780501	195780501	C	0	exonic	MUC4	.	.	.	.	741	294	218	40	229	527	0.336343	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	7710.94	269	chr3	195780501	.	C	*	7710.94	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.08;DP=2073;ExcessHet=0.3696;FS=1.437;MLEAC=2;MLEAF=0.167;MQ=53.96;MQRankSum=-0.18;QD=5.05;ReadPosRankSum=-1.407;SOR=0.549	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:4,467:503:99:1|0:195780492_AGGGGTGGCCT_A:20981,2107,924:195780492	4	0	2	1
chr3	195780510	195780510	G	0	exonic	MUC4	.	.	.	.	1	126	41	1	57	100	0.145763	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	3056.3	257	chr3	195780510	.	G	*	3056.3	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.071;DP=2003;ExcessHet=0.3696;FS=1.441;MLEAC=2;MLEAF=0.143;MQ=53.49;MQRankSum=-0.124;QD=2.16;ReadPosRankSum=-2.632;SOR=0.569	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:8,472:492:38:0|1:195780452_T_C:19950,1187,38:195780452	5	0	2	0
chr3	195780514	195780514	G	0	exonic	MUC4	.	.	.	.	30	98	40	1	57	99	0.176471	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	2607.68	322	chr3	195780514	.	G	*	2607.68	.	AC=3;AF=0.25;AN=12;BaseQRankSum=1.45;DP=2310;ExcessHet=0.0509;FS=1.623;MLEAC=3;MLEAF=0.25;MQ=53.75;MQRankSum=2.85;QD=1.88;ReadPosRankSum=0.076;SOR=0.496	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:10,472:487:99:1|1:195780452_T_C:20094,1184,0:195780452	4	1	1	1
chr3	195780526	195780529	TCCG	0	exonic	MUC4	.	.	.	.	603	642	21	1	255	278	0.0175976	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	1635.4	204	chr3	195780526	.	TCCG	*	1635.4	.	AC=4;AF=0.333;AN=12;DP=2183;ExcessHet=0;FS=8.544;MLEAC=4;MLEAF=0.333;MQ=53.95;QD=1.39;SOR=0.211	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:14,472:488:99:1|1:195780452_T_C:19874,979,0:195780452	4	2	0	1
chr3	195781237	195781237	-	AGGAAGGGCTGGTGACAGGAAGAGGGGTGGTGTGACCTGTGCATGCTA	exonic	MUC4	.	nonframeshift insertion	MUC4:NM_018406:exon2:c.10342_10343insTAGCATGCACAGGTCACACCACCCCTCTTCCTGTCACCAGCCCTTCCT:p.S3447_S3448insLACTGHTTPLPVTSPS,MUC4:NM_001322468:exon12:c.9142_9143insTAGCATGCACAGGTCACACCACCCCTCTTCCTGTCACCAGCCCTTCCT:p.T3048_A4615delinsIACTGHTTPLPVTSPSSSLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSRGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLPVTSTSSASTGHATSLPVTDTSSVSTGHATSLPVTDTSSVSTGHATPLPVTDASSVSTGHATPLPVTDASSASTGDTTPLPVTNTSSASTGQATPLPVTSLSSVSTGDTMPLPVTSPSSASTGHATPLPVTGLSSASTGDTTPLPVTDTSSASTGHVTPLPVTSLSSASTGDSTPLPVTDTSSASTGHVTPLPVTSLSSASTGDTTPLPVTDTSSASTGHATPLHVTDASSASTGQATLLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDTSSASTGHATPLPVTDASSVSTGHATSLPVTIRSSGSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTMPLPVTSPSSASTGDTTPLPVTDASSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTTSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHATPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATSLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTNVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLHVTDASSVSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTDTSSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGHTTSLPVTDASSVSTGHATSLPVTIPSSASSGHTTPLPVTDASSVPTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPVTDTSSVSTGQATPLPVTSLSSASSTGDTTPLPVTDTSSASTGQDTPLPVTSLFSVSTGDTTPLPVTSPSSASTGHATHLLVTDASSVSTGHATSLLVTDASSVSTGHATALHVTDASSLSTGDTTPLPVTSPSSASTGDTTPLPVTDTSSVSTGHATSLPVTDTSSASTGHATSLPVTDTSSASTGQATPLPVTSPSSASTGHAIPLLVTDTSSASTGQATPLPVTSLSSASTGDTTPLPVTDASSVSTGHATSLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTSPSSASTGHATPLHVTDASSVSTGDTTPLPVTSPSSASSGHTTPLPVTDASSASTGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTDVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLPVTDTPSASTGDTTPLPVTNASSLSTRHATSLHVTSPSSASTGHATPLPVTDTSAASTGHATPLPVTSTSSASTGDTTPLPVTDTSSASTGHATPLPVTNTSSVSTGHATPLHVTSPSSASTGHTTPLPVTDASSVSTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPLTSLSSVSTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTDTSSASTGHATSLPVTDTSSASTGHATPLPVTDTSSISTGHATPLHVTSPSSASTGHATPLPVTDTSSASTGHATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATSLPVTDTSSASTGDTTSLPVTDTSSAYTGDTTSLPVTDTSSSSTGDTTPLLVTETSSASTGDTTPVPVTDTSSVSTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSVSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSLASTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSASTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVSDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSTGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLHVTSPSSSSTGQATPLPVTSTSSVSTGHVTPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTDASSVSTGHATPLPVTDTSSASTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGHATPLAVSSATSASTVSSDSPLKMETSGMTTPSLKTDGGRRTATSPPPTTSQTIISTIPSTAMHTRSTAAPIPILPERGVSLFPYGADAGDLEFVRRTVDFTSPLFKPATGFPLGSSLRDSLYFTDNGQIIFPESDYQIFSYPNPLPTGFTGRDPVALVAPFWDDADFSTGRGTTFYQEYETFYGEHSLLVQQAESWIRKMTNNGGYKARWALKVTWVNAHAYPAQWTLGSNTYQAILSTDGSRSYALFLYQSGGMQWDVAQRSGNPVLMGFSSGDGYFENSPLMSQPVWERYRPDRFLNSNSGLQGLQFYRLHREERPNYRLECLQWLKSQPRWPSWGWNQVSCPCSWQQGRRDLRFQPVSIGRWGLGSRQLCSFTSWRGGVCCSYGPWGEFREGWHVQRPWQLAQELEPQSWCCRWNDKPYLCALYQQRRPHVGCATYRPPQPAWMFGDPHITTLDGVSYTFNGLGDFLLVGAQDGNSSFLLQGRTAQTGSAQATNFIAFAAQYRSSSLGPVTVQWLLEPHDAIRVLLDNQTVTFQPDHEDGGGQETFNATGVLLSRNGSEVSASFDGWATVSVIALSNILHASASLPPEYQNRTEGLLGVWNNNPEDDFRMPNGSTIPPGSPEEMLFHFGMTWQINGTGLLGKRNDQLPSNFTPVFYSQLQKNSSWAEHLISNCDGDSSCIYDTLALRNASIGLHTREVSKNYEQANATLNQYPPSINGGRVIEAYKGQTTLIQYTSNAEDANFTLRDSCTDLELFENGTLLWTPKSLEPFTLEILARSAKIGLASALQPRTVVCHCNAESQCLYNQTSRVGNSSLEVAGCKCDGGTFGRYCEGSEDACEEPCFPSVHCVPGKGCEACPPNLTGDGRHCAALGSSFLCQNQSCPVNYCYNQGHCYISQTLGCQPMCTCPPAFTDSRCFLAGNNFSPTVNLELPLRVIQLLLSEEENASMAEVNASVAYRLGTLDMRAFLRNSQVERIDSAAPASGSPIQHWMVISEFQYRPRGPVIDFLNNQLLAAVVEAFLYHVPRRSEEPRNDVVFQPISGEDVRDVTALNVSTLKAYFRCDGYKGYDLVYSPQSGFTCVSPCSRGYCDHGGQCQHLPSGPRCSCVSFSIYTAWGEHCEHLSMKLDAFFGIFFGALGGLLLLGVGTFVVLRFWGCSGARFSYFLNSAEALP*	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.209e-05	3.762e-05	9.214e-06	1.502e-05	0.0002	6.75e-06	5.2e-06	8.847e-05	6.704e-05	0	0	0	0	0	0	2.444e-06	2.201e-05	0.0002	0	9.352e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	18647.3	293	chr3	195781237	.	G	GAGGAAGGGCTGGTGACAGGAAGAGGGGTGGTGTGACCTGTGCATGCTA	18647.3	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.952;DP=2601;ExcessHet=2.5225;FS=3.383;MLEAC=1;MLEAF=0.083;MQ=56.52;MQRankSum=-7.934;QD=11.63;ReadPosRankSum=-8.785;SOR=0.987	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:396,167:563:99:.:.:4705,0,15646:.	5	0	1	1
chr3	195781535	195781582	CGGTGACAGGCACAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGGGC	-	exonic	MUC4	.	nonframeshift deletion	MUC4:NM_018406:exon2:c.9998_10045del:p.S3333_D3349delinsN,MUC4:NM_001322468:exon12:c.8819_8845del:p.V2940_A4615delinsGDTTPLPVTDASSASTGHATPLPVTDTSSVSTGHATPLPVTSLSSVSTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSRGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLPVTSTSSASTGHATSLPVTDTSSVSTGHATSLPVTDTSSVSTGHATPLPVTDASSVSTGHATPLPVTDASSASTGDTTPLPVTNTSSASTGQATPLPVTSLSSVSTGDTMPLPVTSPSSASTGHATPLPVTGLSSASTGDTTPLPVTDTSSASTGHVTPLPVTSLSSASTGDSTPLPVTDTSSASTGHVTPLPVTSLSSASTGDTTPLPVTDTSSASTGHATPLHVTDASSASTGQATLLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDTSSASTGHATPLPVTDASSVSTGHATSLPVTIRSSGSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTMPLPVTSPSSASTGDTTPLPVTDASSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTTSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHATPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATSLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTNVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLHVTDASSVSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTDTSSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGHTTSLPVTDASSVSTGHATSLPVTIPSSASSGHTTPLPVTDASSVPTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPVTDTSSVSTGQATPLPVTSLSSASSTGDTTPLPVTDTSSASTGQDTPLPVTSLFSVSTGDTTPLPVTSPSSASTGHATHLLVTDASSVSTGHATSLLVTDASSVSTGHATALHVTDASSLSTGDTTPLPVTSPSSASTGDTTPLPVTDTSSVSTGHATSLPVTDTSSASTGHATSLPVTDTSSASTGQATPLPVTSPSSASTGHAIPLLVTDTSSASTGQATPLPVTSLSSASTGDTTPLPVTDASSVSTGHATSLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTSPSSASTGHATPLHVTDASSVSTGDTTPLPVTSPSSASSGHTTPLPVTDASSASTGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTDVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLPVTDTPSASTGDTTPLPVTNASSLSTRHATSLHVTSPSSASTGHATPLPVTDTSAASTGHATPLPVTSTSSASTGDTTPLPVTDTSSASTGHATPLPVTNTSSVSTGHATPLHVTSPSSASTGHTTPLPVTDASSVSTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPLTSLSSVSTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTDTSSASTGHATSLPVTDTSSASTGHATPLPVTDTSSISTGHATPLHVTSPSSASTGHATPLPVTDTSSASTGHATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATSLPVTDTSSASTGDTTSLPVTDTSSAYTGDTTSLPVTDTSSSSTGDTTPLLVTETSSASTGDTTPVPVTDTSSVSTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSVSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSLASTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSASTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVSDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSTGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLHVTSPSSSSTGQATPLPVTSTSSVSTGHVTPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTDASSVSTGHATPLPVTDTSSASTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGHATPLAVSSATSASTVSSDSPLKMETSGMTTPSLKTDGGRRTATSPPPTTSQTIISTIPSTAMHTRSTAAPIPILPERGVSLFPYGADAGDLEFVRRTVDFTSPLFKPATGFPLGSSLRDSLYFTDNGQIIFPESDYQIFSYPNPLPTGFTGRDPVALVAPFWDDADFSTGRGTTFYQEYETFYGEHSLLVQQAESWIRKMTNNGGYKARWALKVTWVNAHAYPAQWTLGSNTYQAILSTDGSRSYALFLYQSGGMQWDVAQRSGNPVLMGFSSGDGYFENSPLMSQPVWERYRPDRFLNSNSGLQGLQFYRLHREERPNYRLECLQWLKSQPRWPSWGWNQVSCPCSWQQGRRDLRFQPVSIGRWGLGSRQLCSFTSWRGGVCCSYGPWGEFREGWHVQRPWQLAQELEPQSWCCRWNDKPYLCALYQQRRPHVGCATYRPPQPAWMFGDPHITTLDGVSYTFNGLGDFLLVGAQDGNSSFLLQGRTAQTGSAQATNFIAFAAQYRSSSLGPVTVQWLLEPHDAIRVLLDNQTVTFQPDHEDGGGQETFNATGVLLSRNGSEVSASFDGWATVSVIALSNILHASASLPPEYQNRTEGLLGVWNNNPEDDFRMPNGSTIPPGSPEEMLFHFGMTWQINGTGLLGKRNDQLPSNFTPVFYSQLQKNSSWAEHLISNCDGDSSCIYDTLALRNASIGLHTREVSKNYEQANATLNQYPPSINGGRVIEAYKGQTTLIQYTSNAEDANFTLRDSCTDLELFENGTLLWTPKSLEPFTLEILARSAKIGLASALQPRTVVCHCNAESQCLYNQTSRVGNSSLEVAGCKCDGGTFGRYCEGSEDACEEPCFPSVHCVPGKGCEACPPNLTGDGRHCAALGSSFLCQNQSCPVNYCYNQGHCYISQTLGCQPMCTCPPAFTDSRCFLAGNNFSPTVNLELPLRVIQLLLSEEENASMAEVNASVAYRLGTLDMRAFLRNSQVERIDSAAPASGSPIQHWMVISEFQYRPRGPVIDFLNNQLLAAVVEAFLYHVPRRSEEPRNDVVFQPISGEDVRDVTALNVSTLKAYFRCDGYKGYDLVYSPQSGFTCVSPCSRGYCDHGGQCQHLPSGPRCSCVSFSIYTAWGEHCEHLSMKLDAFFGIFFGALGGLLLLGVGTFVVLRFWGCSGARFSYFLNSAEALP*	.	432	1084	3	0	3	6	0.00138185	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0.0005	0	0.0037	0	0.0017	0	0.0003	.	.	.	rs773375978	4.072e-05	0.0059	4.243e-05	3.896e-05	0.0003	3.176e-05	2.88e-05	2.611e-05	2.317e-05	0	3.061e-05	0.0002	9.239e-05	0.0001	0.0003	3.566e-05	5.609e-05	0	0.0005	0.0035	0.0005	0.0005	0.0015	0.0004	0.0004	0.0007	0.0005	0.0002	0	0.0008	0.0009	0.0015	0.0006	0	0.0005	0.0016	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	1063.2	204	chr3	195781534	.	TCGGTGACAGGCACAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGGGC	T	1063.2	.	AC=2;AF=0.143;AN=14;BaseQRankSum=4.84;DP=2822;ExcessHet=0.3476;FS=3.565;MLEAC=2;MLEAF=0.143;MQ=55.75;MQRankSum=-8.472;QD=0.64;ReadPosRankSum=-3.335;SOR=1.197	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:576,53:629:99:0|1:195781522_A_G:291,0,23593:195781522	5	0	2	0
chr3	195781535	195781535	C	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	91.83	204	chr3	195781535	.	C	*	91.83	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.538;DP=2823;ExcessHet=1.1394;FS=3.565;MLEAC=2;MLEAF=0.143;MQ=56.99;MQRankSum=-4.922;QD=0.05;ReadPosRankSum=0.223;SOR=1.219	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:576,53:629:99:0|1:195781522_A_G:291,0,23593:195781522	5	0	2	0
chr3	195781545	195781545	C	0	exonic	MUC4	.	.	.	.	447	984	72	8	11	99	0.0428016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	99.24	204	chr3	195781545	.	C	*	99.24	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-0.122;DP=2670;ExcessHet=0.3476;FS=3.494;MLEAC=1;MLEAF=0.1;MQ=56.48;MQRankSum=-4.308;QD=0.15;ReadPosRankSum=-0.465;SOR=1.198	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:576,53:629:99:0|1:195781522_A_G:291,0,23593:195781522	4	0	1	2
chr3	195781547	195781547	C	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	98.58	204	chr3	195781547	.	C	*	98.58	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.03;DP=2701;ExcessHet=1.1394;FS=3.146;MLEAC=2;MLEAF=0.167;MQ=57.2;MQRankSum=-4.308;QD=0.07;ReadPosRankSum=-0.772;SOR=1.096	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:576,53:629:99:0|1:195781522_A_G:291,0,23593:195781522	4	0	2	1
chr3	195781555	195781555	G	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	59.35	204	chr3	195781555	.	G	*	59.35	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.681;DP=2530;ExcessHet=0.3476;FS=2.198;MLEAC=1;MLEAF=0.083;MQ=56.78;MQRankSum=-3.981;QD=0.09;ReadPosRankSum=-0.672;SOR=1.155	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:576,53:629:99:0|1:195781522_A_G:291,0,23593:195781522	5	0	1	1
chr3	195781557	195781559	GTC	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	59.35	204	chr3	195781557	.	GTC	*	59.35	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.15;DP=2535;ExcessHet=0.3476;FS=2.198;MLEAC=1;MLEAF=0.083;MQ=56.46;MQRankSum=-3.981;QD=0.09;ReadPosRankSum=-1.64;SOR=1.155	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:576,53:629:99:0|1:195781522_A_G:291,0,23593:195781522	5	0	1	1
chr3	195781618	195781666	GCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA	0	exonic	MUC4	.	.	.	.	469	535	446	20	52	538	0.312339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	19114.9	194	chr3	195781618	.	GCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA	*	19114.9	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-0.667;DP=2134;ExcessHet=0.0509;FS=0;MLEAC=3;MLEAF=0.25;MQ=51.82;MQRankSum=5.48;QD=14.16;ReadPosRankSum=5.37;SOR=0.648	GT:AD:DP:GQ:PGT:PID:PL:PS	1/0:18,116:305:99:.:.:11125,6168,7405:.	3	0	3	1
chr3	195781628	195781628	C	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	13811.8	197	chr3	195781628	.	C	*	13811.8	.	AC=7;AF=0.5;AN=14;BaseQRankSum=2.55;DP=2021;ExcessHet=1.1394;FS=1.351;MLEAC=7;MLEAF=0.5;MQ=55.87;MQRankSum=-2.156;QD=7.01;ReadPosRankSum=0.308;SOR=0.838	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,294:303:99:1|1:195781522_A_G:12824,885,0:195781522	2	2	3	0
chr3	195782548	195782644	ACAGGAAGAGAGGTGGCGTGACCTATGGATGCTGAGGAAGTGTCGGTGACAGGAAGAAGGGTGGCGTGACCTGTGGATGCTGAGGAAGTGTCGGTGT	0	exonic	MUC4	.	.	.	.	0	198	26	0	2	28	0.0616114	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	3835.59	370	chr3	195782548	.	ACAGGAAGAGAGGTGGCGTGACCTATGGATGCTGAGGAAGTGTCGGTGACAGGAAGAAGGGTGGCGTGACCTGTGGATGCTGAGGAAGTGTCGGTGT	*	3835.59	.	AC=1;AF=0.071;AN=14;BaseQRankSum=5.62;DP=2734;ExcessHet=0.3476;FS=1.893;MLEAC=1;MLEAF=0.071;MQ=53.32;MQRankSum=-1.453;QD=3.77;ReadPosRankSum=2.3;SOR=0.872	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:445,110:647:99:.:.:2484,0,27056:.	6	0	1	0
chr3	195782558	195782558	A	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	11022.0	370	chr3	195782558	.	A	*	11022.0	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.92;DP=2625;ExcessHet=0.7136;FS=0;MLEAC=2;MLEAF=0.167;MQ=56.37;MQRankSum=-1.44;QD=9.15;ReadPosRankSum=1.42;SOR=0.701	GT:AD:DP:GQ:PGT:PID:PL:PS	1/0:1,211:402:99:.:.:18130,5695,6314:.	4	0	2	1
chr3	195782605	195782605	A	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	3148.91	370	chr3	195782605	.	A	*	3148.91	.	AC=2;AF=0.2;AN=10;BaseQRankSum=0.799;DP=2779;ExcessHet=0.4813;FS=0;MLEAC=2;MLEAF=0.2;MQ=53.76;MQRankSum=-2.044;QD=4.87;ReadPosRankSum=-2.394;SOR=0.703	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:6,249:263:99:.:.:9740,1379,8119:.	3	0	2	2
chr3	195783019	195783020	GC	-	exonic	MUC4	.	frameshift deletion	MUC4:NM_018406:exon2:c.8560_8561del:p.A2854Ffs*55,MUC4:NM_001322468:exon8:c.7888_7889del:p.Q2630Gfs*32	.	441	1022	49	0	10	59	0.0234114	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0036	0.0005	0	0	0.0102	0.0045	0	0.0025	0.0001537	4	26028	rs1454491239	0.0052	0.0051	0.0051	0.0053	0.0058	0.0051	0.0051	0.0047	0.0046	0.0010	0.0054	0.0039	0.0042	0.0203	0.0058	0.0047	0.0060	0.0047	0.0045	0.0053	0.0041	0.0050	0.0067	0.0042	0.0041	0.0055	0.0051	0.0009	0	0.0067	0.0031	0.0018	0.0082	0	0.0058	0.0050	0.0048	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	2542.0	293	chr3	195783018	.	AGC	A	2542.0	.	AC=1;AF=0.071;AN=14;BaseQRankSum=5.32;DP=2301;ExcessHet=0.3476;FS=0.523;MLEAC=1;MLEAF=0.071;MQ=55.3;MQRankSum=0.999;QD=2.74;ReadPosRankSum=1.31;SOR=0.686	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:317,197:636:99:0|1:195783018_AGC_*:5543,0,12710:195783018	6	0	1	0
chr3	195783023	195783116	CGGTGACAGGAAGAGGGGTGGTGTGACCTGAGGATGCTGAGGAAGGGATGGTGACAGGAAGAGAGGTGGCATGACCTGTGAACACTGAGGAAGC	-	exonic	MUC4	.	frameshift deletion	MUC4:NM_018406:exon2:c.8464_8557del:p.A2822Tfs*151	.	440	1025	47	0	10	57	0.022413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0039	0.0005	0	0	0.0102	0.0050	0	0.0026	0.0001537	4	26028	.	0.0035	0.0047	0.0034	0.0035	0.0043	0.0034	0.0033	0.0034	0.0032	0.0007	0.0040	0.0026	0.0026	0.0139	0.0043	0.0031	0.0044	0.0027	0.0040	0.0049	0.0036	0.0045	0.0060	0.0037	0.0036	0.0049	0.0045	0.0009	0	0.0060	0.0028	0.0010	0.0086	0	0.0049	0.0047	0.0038	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	2349.0	293	chr3	195783022	.	TCGGTGACAGGAAGAGGGGTGGTGTGACCTGAGGATGCTGAGGAAGGGATGGTGACAGGAAGAGAGGTGGCATGACCTGTGAACACTGAGGAAGC	T	2349.0	.	AC=1;AF=0.071;AN=14;BaseQRankSum=4.85;DP=2590;ExcessHet=0.3476;FS=0.52;MLEAC=1;MLEAF=0.071;MQ=56.46;MQRankSum=-1.873;QD=1.95;ReadPosRankSum=0.91;SOR=0.65	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:551,197:914:99:0|1:195783018_AGC_*:4734,0,23432:195783018	6	0	1	0
chr3	195783068	195783068	G	0	exonic	MUC4	.	.	.	.	442	900	103	29	48	209	0.082101	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	2969.16	238	chr3	195783068	.	G	*	2969.16	.	AC=2;AF=0.2;AN=10;BaseQRankSum=0.931;DP=2619;ExcessHet=0;FS=1.123;MLEAC=2;MLEAF=0.2;MQ=54.92;MQRankSum=0.902;QD=2.3;ReadPosRankSum=0.72;SOR=0.572	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:536,490:1036:99:0|1:195783020_C_*:10598,0,19824:195783020	3	0	2	2
chr3	195783070	195783070	A	0	exonic	MUC4	.	.	.	.	2	173	30	8	13	59	0.117347	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	2843.16	238	chr3	195783070	.	A	*	2843.16	.	AC=2;AF=0.2;AN=10;BaseQRankSum=0.931;DP=2266;ExcessHet=0;FS=1.796;MLEAC=2;MLEAF=0.2;MQ=55.79;MQRankSum=0.902;QD=2.96;ReadPosRankSum=1.1;SOR=0.601	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:364,327:695:99:.:.:10885,0,14455:.	3	0	2	2
chr3	195783084	195783084	A	0	exonic	MUC4	.	.	.	.	29	112	61	14	10	99	0.284345	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	28034.9	223	chr3	195783084	.	A	*	28034.9	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.59;DP=2348;ExcessHet=0.7136;FS=0;MLEAC=1;MLEAF=0.083;MQ=57.77;MQRankSum=0.747;QD=17.04;ReadPosRankSum=1.09;SOR=0.668	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,412:716:99:0|1:195783084_A_*:27636,11951,10950:195783084	5	0	1	1
chr3	195783093	195783093	A	0	exonic	MUC4	.	.	.	.	83	60	55	21	7	104	0.447005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	37419.1	210	chr3	195783093	.	A	*	37419.1	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.476;DP=2383;ExcessHet=0.095;FS=0;MLEAC=1;MLEAF=0.083;MQ=57.8;MQRankSum=-1.979;QD=21.68;ReadPosRankSum=1.7;SOR=0.701	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,412:727:99:0|1:195783084_A_*:27923,12252,11478:195783084	5	0	1	1
chr3	195783259	195783259	G	A	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C8321T:p.T2774I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.000888857033759	.	.	0	0	0	0	0	0	0	0	.	.	.	rs761265033	2.354e-05	7.33e-05	2.098e-05	2.616e-05	0.0003	1.687e-05	1.47e-05	7.4e-05	4.788e-05	0.0002	2.927e-05	4.154e-05	2.848e-05	0	0.0003	1.871e-05	3.677e-05	1.319e-05	0.0001	0.0003	0.0001	8.868e-05	0.0004	7.218e-05	5.813e-05	0.0002	0.0002	0.0004	0	0	0	0	0	0	3.224e-05	0	0.0002	0.007	0.59928	D	0.028	0.54934	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.55	0.29866	T	-0.68	0.23156	N	0.095	0.08227	-1.0302	0.20390	T	0.026	0.11131	T	8	0.041856647	0.02879	T	8.89E-4	0.00822	T	0.036	0.09122	.	.	0.0138822411134	0.00435	2.827193375317178E-5	0.00002	.	.	0.561154603958	0.47431	T	.	.	.	-0.340345	0.05364	T	-0.726658	0.04480	T	0.0329061001002379	0.02455	T	0.806719	0.45571	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.154	0.34004	B	.;.	.;.	1.797980	0.22853	15.79	0.76545587819915528	0.11511	0.00642	0.02806	N	AEFBI	0.084096	0.17041	N	-1.69380860135521	0.00864	0.03737985	-1.80511505348026	0.00743	0.03311221	1.55826883379754E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	1.02	-1.52	0.08181	1.018000	0.29604	1.180000	0.24688	0.221000	0.18078	0.002000	0.15269	0.004000	0.18990	0.001000	0.02609	0.2868:0.0:0.7132:0.0	4.236	0.10076	601	0.67921	.;.	.	.	.	.	.	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	5129.45	60	chr3	195783259	.	G	A	5129.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.346;DP=1225;ExcessHet=0;FS=0.624;MLEAC=1;MLEAF=0.071;MQ=57.02;MQRankSum=-2.937;QD=7.01;ReadPosRankSum=0.611;SOR=0.775	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:567,165:732:99:0|1:195783259_G_A:5140,0,23051:195783259	6	0	1	0
chr3	195783260	195783260	T	G	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.A8320C:p.T2774P	.	426	1068	13	1	14	29	0.0069735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.000887783013412	.	.	0.0025	0.0005	0	0	0	0.0018	0	0.0053	0.0003946	61	154602	rs765190977	0.0003	0.0010	0.0002	0.0004	0.0023	0.0003	0.0003	0.0020	0.0019	0.0011	0.0005	0.0004	9.469e-05	6.78e-05	0.0009	0.0001	0.0002	0.0023	0.0019	0.0051	0.0021	0.0018	0.0126	0.0017	0.0016	0.0090	0.0077	0.0039	0	0.0013	0.0010	0.0004	0.0007	0	0.0011	0	0.0126	0.014	0.53172	D	0.302	0.20293	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.44	0.32722	T	-0.1	0.08495	N	0.067	0.07535	-1.0285	0.20940	T	0.026	0.11131	T	8	0.0073918104	0.00168	T	8.88E-4	0.00822	T	0.081	0.23632	.	.	0.0138822411134	0.00435	9.957835020418175E-5	0.00008	.	.	0.543016791344	0.44873	T	.	.	.	-0.359371	0.04166	T	-0.753988	0.03333	T	0.0110828574076099	0.00161	T	0.40156	0.10241	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	0.07365	B	.;.	.;.	-0.021407	0.04137	0.986	0.40130626491651172	0.02813	0.00206	0.01180	N	AEFBI	0.084477	0.17121	N	-1.54466372398719	0.01566	0.06842004	-1.72622564668846	0.01026	0.04602849	1.73675996703415E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	1.02	-1.7	0.07721	-0.841000	0.04467	-3.435000	0.02789	-1.084000	0.01555	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2236:0.0:0.7764	4.854	0.12910	601	0.67921	.;.	.	.	.	.	.	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	5147.45	60	chr3	195783260	.	T	G	5147.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.333;DP=1216;ExcessHet=0;FS=0.621;MLEAC=1;MLEAF=0.071;MQ=57.01;MQRankSum=-2.87;QD=7.09;ReadPosRankSum=0.664;SOR=0.767	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:561,165:726:99:0|1:195783259_G_A:5158,0,22890:195783259	6	0	1	0
chr3	195783262	195783262	T	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.A8318G:p.N2773S	.	435	1048	24	4	11	43	0.0150376	.	.	.	2825231	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.009	0.000934584827122	.	.	0.0062	0.0032	0.0036	0	0	0.0079	0.0038	0.0074	0.0003458	9	26028	rs200430309	0.0004	0.0018	0.0004	0.0005	0.0030	0.0004	0.0004	0.0025	0.0022	0.0030	0.0019	0.0005	0.0001	0.0002	0.0011	0.0002	0.0006	0.0020	0.0023	0.0063	0.0020	0.0026	0.0081	0.0020	0.0019	0.0065	0.0061	0.0076	0	0.0025	0	0.0003	0.0007	0.0068	0.0006	0.0008	0.0081	0.026	0.46910	D	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.5	0.32722	T	0.18	0.05310	N	0.02	0.00770	-0.9888	0.32903	T	0.026	0.10954	T	8	0.00425151	0.00085	T	9.35E-4	0.00911	T	0.009	0.00846	.	.	0.0138822411134	0.00435	6.802891024874262E-6	0.00000	.	.	0.536698877811	0.43980	T	.	.	.	-0.429523	0.01492	T	-0.854757	0.00902	T	0.00071340223075822	0.00006	T	0.639136	0.25234	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.06387	B	.;.	.;.	-0.268405	0.02760	0.371	0.26748890116254831	0.01296	0.00041	0.00340	N	AEFBI	0.037893	0.05280	N	-1.53609845538159	0.01617	0.07070451	-1.620494646848	0.01535	0.06955711	1.70211933778159E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	1.02	-1.52	0.08181	-2.470000	0.01067	-6.862000	0.01287	-2.418000	0.00289	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4779:0.0:0.5221	4.376	0.10704	601	0.67921	.;.	.	.	.	.	.	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	0.095606	0.152632	0.057377	0.178571	0.111111	0.052083	0.101307	0.056911	0.1	2457.11	187	chr3	195783262	.	T	C	2457.11	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-1.188;DP=1326;ExcessHet=0;FS=0.633;MLEAC=1;MLEAF=0.1;MQ=57.06;MQRankSum=-3.259;QD=3.46;ReadPosRankSum=0.305;SOR=0.751	GT:AD:DP:GQ:PL	0/1:553,158:711:99:2466,0,22665	4	0	1	2
chr3	195783283	195783283	G	A	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C8297T:p.A2766V	.	420	1095	5	1	1	8	0.00318616	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.000735843050521	.	.	0.0015	0	0	0	0	0	0	0.0046	3.84e-05	1	26028	rs766130984	3.818e-05	0.0001	1.739e-05	5.954e-05	0.0006	2.965e-05	2.685e-05	0.0004	0.0004	3.359e-05	0	0	0	0	0.0002	4.759e-06	3.548e-05	0.0006	0.0002	0.0003	0.0001	0.0003	0.0047	0.0001	0.0001	0.0031	0.0026	2.518e-05	0	6.918e-05	0	0.0002	0	0.0036	4.73e-05	0	0.0047	0.014	0.53172	D	0.246	0.24477	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.57	0.29342	T	0.33	0.05503	N	0.052	0.02366	-1.0335	0.19332	T	0.037	0.15813	T	8	0.008687943	0.00197	T	7.36E-4	0.00491	T	0.019	0.03383	.	.	0.0138822411134	0.00435	1.2875917223193188E-5	0.00001	.	.	0.508125066757	0.39960	T	.	.	.	-0.314077	0.07393	T	-0.688926	0.06451	T	0.0497739532765785	0.05461	T	0.687031	0.29593	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	0.24396	B	.;.	.;.	1.168030	0.15574	11.95	0.96341220887953671	0.29483	0.00124	0.00775	N	AEFBI	0.051599	0.09133	N	-1.04013683424469	0.07782	0.3626985	-1.14674703774489	0.06826	0.3299231	1.68298022610984E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	1.02	1.02	0.19102	2.166000	0.42032	-2.558000	0.03610	0.202000	0.17929	0.025000	0.20085	0.000000	0.08366	0.001000	0.02609	0.0:0.0:1.0:0.0	7.573	0.27087	601	0.67921	.;.	.	.	.	.	.	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	3977.44	194	chr3	195783283	.	G	A	3977.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-5.755;DP=1186;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=56.5;MQRankSum=-3.631;QD=7;ReadPosRankSum=-0.791;SOR=0.65	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:441,127:568:99:0|1:195783259_G_A:3988,0,18117:195783259	6	0	1	0
chr3	195784222	195784222	C	A	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.G7358T:p.S2453I,MUC4:NM_001322468:exon7:c.G7310T:p.S2437I	.	425	1095	2	0	0	2	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.00123067916613	.	.	0.0008	0.0005	0	0	0.0005	0.0015	0	0.0003	0.0001488	23	154602	rs778868605	7.232e-05	0.0009	7.612e-05	6.842e-05	7.09e-05	5.984e-05	5.538e-05	5.165e-05	4.688e-05	7.09e-05	0	0.0001	0	0.0004	0	6.49e-05	0.0001	0	0.0006	0.0033	0.0007	0.0006	0.0008	0.0005	0.0005	0.0006	0.0005	0.0003	0	0.0007	0	0	0.0012	0	0.0008	0.0033	0.0003	0.167	0.27783	T	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	1	0.20909	N	.	.	.	1.47	0.31987	T	-0.5	0.18459	N	0.091	0.06990	-0.9912	0.32295	T	0.028	0.11882	T	8	0.024404973	0.00670	T	0.001231	0.01633	T	0.019	0.03383	0.296	0.26041	0.0611884634855	0.05136	1.8125435560606282E-4	0.00016	.	.	0.579718947411	0.50047	T	.	.	.	-0.345844	0.04993	T	-0.734557	0.04123	T	0.0165328343169427	0.00416	T	0.518148	0.16784	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.266	0.50044	B	.;.	.;.	1.229455	0.16240	12.41	0.92940184326513287	0.22508	0.00376	0.01908	N	AEFDBCI	0.029546	0.02808	N	-1.30213955474078	0.03651	0.1634745	-1.38485414412822	0.03412	0.1591326	1.4555076539631E-5	0.02871	0.713056	0.82018	0	0.546412	0.12157	0	0.608524	0.38960	0	0.613276	0.41899	0	.	.	1.04	-1.45	0.08365	-0.904000	0.04188	-7.951000	0.01055	-1.299000	0.01246	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3013:0.3987:0.3:0.0	2.814	0.05117	601	0.67921	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1	602.11	502	chr3	195784222	.	C	A	602.11	.	AC=1;AF=0.1;AN=10;BaseQRankSum=0.393;DP=3613;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.1;MQ=59.2;MQRankSum=-8.938;QD=0.59;ReadPosRankSum=-3.803;SOR=0.808	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:931,83:1014:99:0|1:195784220_T_G:611,0,38674:195784220	4	0	1	2
chr3	195785644	195785644	G	T	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C5936A:p.T1979K,MUC4:NM_001322468:exon6:c.C5936A:p.T1979K	.	408	1094	20	0	0	20	0.00905797	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	.	.	.	0.0091	0.0008	0.0049	0	0.0021	0.0074	0	0.0182	0.0018823	291	154602	rs779935183	0.0013	0.0040	0.0012	0.0015	0.0052	0.0013	0.0012	0.0048	0.0046	0.0004	0.0010	0.0066	0	0.0009	0.0030	0.0010	0.0019	0.0052	0.0008	0.0023	0.0008	0.0009	0.0057	0.0007	0.0007	0.0040	0.0035	0.0002	0	0.0014	0.0062	0	0.0006	0	0.0006	0.0014	0.0057	0.018	0.58626	D	0.012	0.63918	D	.	.	.	.	.	.	.	.	.	.	1	0.23544	N	.	.	.	1.13	0.39223	T	-0.67	0.19297	N	0.058	0.06454	-1.0684	0.09768	T	0.044	0.18948	T	7	0.0054897964	0.00121	T	.	.	.	0.034	0.08419	.	.	0.0297737177859	0.01360	5.07063259973472E-4	0.00046	.	.	0.537125587463	0.44040	T	.	.	.	-0.288849	0.09752	T	-0.652688	0.08767	T	0.006023847504792	0.00066	T	0.814619	0.46840	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.420	0.60693	A	.;.	.;.	2.172754	0.27693	17.55	0.82402364439529996	0.14173	0.14268	0.18312	N	AEFDBCI	0.115834	0.22758	N	-0.747718446310766	0.14695	0.7342156	-0.910381681897858	0.11849	0.6061497	8.41618344391763E-5	0.04703	0.615465	0.37627	0	0.550933	0.16991	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	.	.	.	0.526000	0.22680	0.049000	0.13974	0.177000	0.17786	0.004000	0.16614	0.000000	0.08366	0.028000	0.12845	2.0E-4:0.0:0.9998:0.0	6.707	0.22443	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	0.008762	0.005102	0.002882	0.012500	0.000000	0.009091	0.018750	0.011719	0.07143	3633.44	299	chr3	195785644	.	G	T	3633.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.424;DP=3208;ExcessHet=0;FS=0.615;MLEAC=1;MLEAF=0.071;MQ=59.09;MQRankSum=2.97;QD=3.99;ReadPosRankSum=-0.821;SOR=0.648	GT:AD:DP:GQ:PL	0/1:692,219:911:99:3644,0,19113	6	0	1	0
chr3	195786274	195786274	A	G	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.T5306C:p.V1769A,MUC4:NM_001322468:exon6:c.T5306C:p.V1769A	.	409	1089	24	0	0	24	0.0108992	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	.	.	.	0.0064	0	0.0055	0	0	0.0051	0	0.0129	0.0006916	18	26028	rs879139073	0.0018	0.0021	0.0014	0.0021	0.0124	0.0017	0.0017	0.0118	0.0115	0.0004	0.0009	0.0172	2.922e-05	2.098e-05	0.0065	0.0008	0.0027	0.0124	0.0021	0.0046	0.0020	0.0021	0.0106	0.0019	0.0018	0.0079	0.0070	0.0019	0.0015	0.0013	0.0174	0.0013	0.0001	0.0132	0.0014	0.0018	0.0106	0.195	0.20759	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	0.999999	0.28312	N	.	.	.	1.33	0.35031	T	-0.03	0.07444	N	0.022	0.00372	-1.0107	0.26698	T	0.048	0.20474	T	7	0.005569011	0.00123	T	.	.	.	0.008	0.00669	.	.	0.0138822411134	0.00435	3.782903167070768E-5	0.00003	.	.	0.530063509941	0.43043	T	.	.	.	-0.311356	0.07629	T	-0.685018	0.06682	T	0.127299104398749	0.15130	T	0.518348	0.16810	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.24157	B	.;.	.;.	-0.181578	0.03186	0.524	0.2965543671164817	0.01583	0.01113	0.04069	N	AEFDBCI	0.043870	0.06990	N	-1.17845442257488	0.05326	0.2425453	-1.32986469411063	0.04049	0.1901829	1.20127648571057E-5	0.02871	0.554377	0.28877	0	0.446627	0.06534	0	0.602189	0.34648	0	0.567339	0.31927	0	.	.	.	.	.	-0.453000	0.06853	-7.541000	0.01135	-1.124000	0.01467	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.9993:0.0:7.0E-4:0.0	4.518	0.11349	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	0.017119	0.011494	0.010937	0.017241	0.150000	0.009615	0.016892	0.016807	0.07143	6562.44	200	chr3	195786274	.	A	G	6562.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.89;DP=2666;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=59.54;MQRankSum=-0.596;QD=11.93;ReadPosRankSum=0.778;SOR=0.731	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:347,203:550:99:0|1:195786231_A_G:6573,0,12569:195786231	6	0	1	0
chr4	295462	295462	G	A	exonic	ZNF732	.	nonsynonymous SNV	ZNF732:NM_001137608:exon3:c.C202T:p.H68Y	.	480	1013	25	4	0	33	0.0160272	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	.	0.0015	0.00239617	0.0050	0.0007	0.0024	0.0002	0.0009	0.0031	0.0063	0.0196	0.0030983	479	154602	rs138314261	0.0027	0.0027	0.0023	0.0031	0.0147	0.0026	0.0026	0.0140	0.0137	0.0004	0.0021	0.0018	2.525e-05	0.0004	0.0109	0.0020	0.0032	0.0147	0.0019	0.0019	0.0018	0.0020	0.0137	0.0017	0.0016	0.0110	0.0101	0.0004	0	0.0020	0.0012	0.0002	0.0003	0.0068	0.0023	0.0024	0.0137	0.019	0.50132	D	0.259	0.23097	T	0.867	0.47667	P	0.337	0.42281	B	.	.	.	.	1	0.08975	N	1.595	0.40691	L	3.41	0.05574	T	-4.3	0.76496	D	0.283	0.32037	-0.9661	0.37994	T	0.015	0.05946	T	8	0.004892677	0.00104	T	.	.	.	0.037	0.09474	.	.	0.0297737177859	0.01360	0.008887082006758107	0.00851	0.00617594443748	0.00540	0.462571084499	0.33664	T	0.028374	0.20569	T	-0.583913	0.00182	T	-0.598554	0.12934	T	0.0382727865918116	0.03381	T	0.00488285	0.00016	T	0.18124768	0.39286	0.25665975	0.51369	0.18124768	0.39286	0.25665975	0.51368	-7.339	0.56473	T	.	.	0.083	0.11701	B	.;.	.;.	0.778245	0.11484	8.086	0.83627085447851301	0.14830	0.00662	0.02865	N	AEFBI	0.037922	0.05288	N	-0.641975677530967	0.17694	0.9126882	-0.849602537774039	0.13297	0.6890182	0.0801743627968419	0.15838	0.706548	0.73137	0	0.547309	0.14657	0	0.724815	0.87919	0	0.613276	0.41899	0	.	.	0.225	0.225	0.14598	0.919000	0.28312	.	.	0.373000	0.20310	0.005000	0.17040	0.000000	0.08366	0.031000	0.13245	.	.	.	958	0.09170	Krueppel-associated box;Krueppel-associated box	.	.	.	.	.	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	0.005550	0.000000	0.002717	0.005848	0.000000	0.000000	0.012270	0.011364	0.07143	1081.44	33	chr4	295462	.	G	A	1081.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.378;DP=278;ExcessHet=0;FS=3.772;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.27;ReadPosRankSum=-1.448;SOR=1.08	GT:AD:DP:GQ:PL	0/1:49,47:96:99:1092,0,1242	6	0	1	0
chr4	625646	625646	A	G	exonic	PDE6B	.	nonsynonymous SNV	PDE6B:NM_000283:exon1:c.A20G:p.Q7R,PDE6B:NM_001145291:exon1:c.A20G:p.Q7R	Night blindness, congenital stationary, autosomal dominant 2, Autosomal dominant;Retinitis pigmentosa-40, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	3847595	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.045	0.0250003578226	.	.	3.307e-05	0	0	0	0	0	0	0.0002	2.59e-05	4	154602	rs769821115	4.106e-06	4.788e-06	2.724e-06	5.503e-06	5.797e-05	1.48e-06	9.7e-07	2.194e-05	1.43e-05	0	0	0	0	0	0	0	1.656e-05	5.797e-05	6.563e-06	6.561e-06	0	1.342e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.103	0.30097	T	0.306	0.20037	T	0.074	0.24142	B	0.038	0.23361	B	0.000623	0.42799	D	0.225700	0.97964	0.25168	N	1.61	0.41143	L	-0.03	0.63077	T	-1.14	0.29323	N	0.093	0.08925	-0.9095	0.46916	T	0.183	0.53087	T	10	0.10207817	0.18688	T	0.025	0.47983	T	0.045	0.12272	0.267	0.21418	0.791855098359	0.78992	0.2206732256634905	0.21982	0.139551493921	0.15728	0.382511287928	0.22613	T	0.322053	0.69310	T	-0.314159	0.07387	T	-0.452376	0.27434	T	0.0624396017934975	0.07548	T	0.632737	0.24712	T	0.11033516	0.26081	0.13393152	0.32105	0.11033516	0.26081	0.13393152	0.32104	-3.86	0.21824	T	.	.	0.087	0.11220	B	.;.	.;.	1.812463	0.23033	15.86	0.94262455389023836	0.24543	0.80751	0.40309	D	AEFDBCI	0.210428	0.33631	N	-0.34444386892297	0.27477	1.507813	-0.271050883973279	0.29057	1.624927	0.999731450758134	0.42341	0.495158	0.18159	0	0.573888	0.26702	0	0.535252	0.11790	0	0.613276	0.41899	0	.	.	4.98	3.78	0.42629	3.701000	0.54525	.	.	0.756000	0.94297	0.936000	0.32490	0.971000	0.29754	0.865000	0.41091	0.9093:0.0:0.0907:0.0	8.979	0.35114	803	0.44167	.;.	.	.	.	.	.	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	555.46	33	chr4	625646	.	A	G	555.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.739;DP=245;ExcessHet=0;FS=4.882;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.51;ReadPosRankSum=0.961;SOR=1.329	GT:AD:DP:GQ:PL	0/1:47,27:74:99:566,0,1157	6	0	1	0
chr4	991630	991630	C	T	exonic	SLC26A1	.	nonsynonymous SNV	SLC26A1:NM_022042:exon2:c.G74A:p.R25Q,SLC26A1:NM_134425:exon2:c.G74A:p.R25Q,SLC26A1:NM_213613:exon3:c.G74A:p.R25Q	.	234	1269	19	0	0	19	0.00743058	.	.	.	1646966	SLC26A1-related_disorder|Inborn_genetic_diseases|not_provided	.|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.262	0.143261176074	0.0009	0.000798722	0.0010	0.0003	0.0005	0	0	0.0012	0	0.0024	0.0008279	128	154602	rs35719765	0.0010	0.0010	0.0009	0.0012	0.0156	0.0010	0.0010	0.0129	0.0120	0.0005	0.0007	4.101e-05	0	5.308e-05	0.0156	0.0009	0.0018	0.0025	0.0009	0.0009	0.0008	0.0009	0.0017	0.0007	0.0007	0.0010	0.0010	0.0002	0	0.0012	0	0.0002	0	0.0136	0.0012	0.0033	0.0017	0.737	0.04864	T	0.608	0.07842	T	0.0	0.02946	B	0.0	0.01387	B	0.021946	0.01563	N	3.198590	0.999999	0.08975	N	-1.32	0.00691	N	-3.0	0.93054	D	0.1	0.05810	N	0.078	0.05929	-0.4471	0.70496	T	0.391	0.74524	T	10	0.0065609515	0.00149	T	0.143261	0.82560	D	0.262	0.57482	.	.	0.347659731818	0.34379	0.14615171333840088	0.14537	0.128866554687	0.14530	0.388208150864	0.23417	T	0.050409	0.28586	T	-0.471187	0.00836	T	-0.454842	0.27163	T	0.00322538279905694	0.00034	T	0.378562	0.09103	T	0.017236993	0.00257	0.022291442	0.00257	0.020795481	0.00651	0.023041084	0.00320	-4.073	0.24891	T	.	.	0.077	0.06250	B	.;.;.;.	.;.;.;.	-0.825641	0.01058	0.046	0.74783645981953928	0.10825	0.01482	0.04930	N	AEFBCI	0.024178	0.01456	N	-2.33826053942339	0.00037	0.001602423	-2.39964868108738	0.00039	0.001727806	0.999999999999847	0.74766	0.562547	0.31514	0	0.550933	0.16991	0	0.578056	0.29568	0	0.635551	0.53088	0	.	.	5.3	-10.6	0.00212	-2.664000	0.00921	.	.	-1.645000	0.00834	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1519:0.385:0.1872:0.2758	3.081	0.05885	804	0.43891	.;.;.;.	.	.	.	.	.	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	0.017137	0.000000	0.014946	0.032164	0.100000	0.008621	0.018293	0.000000	0.07143	1961.44	33	chr4	991630	.	C	T	1961.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.26;DP=324;ExcessHet=0;FS=2.199;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.75;ReadPosRankSum=0.214;SOR=0.523	GT:AD:DP:GQ:PL	0/1:62,71:133:99:1972,0,1403	6	0	1	0
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	0/1:76,31:107:99:294,0,1685	0	0	6	1
chr4	8227652	8227652	G	A	exonic	SH3TC1	.	nonsynonymous SNV	SH3TC1:NM_001318480:exon12:c.G1730A:p.R577Q,SH3TC1:NM_018986:exon12:c.G1958A:p.R653Q	.	.	.	.	.	.	.	.	.	.	.	4070862	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.402	0.58427422585	.	.	3.171e-05	0	0.0002	0	0	1.856e-05	0	0	1.94e-05	3	154602	rs372583178	1.6e-05	1.642e-05	1.428e-05	1.778e-05	0.0001	1.048e-05	8.95e-06	4.264e-05	2.595e-05	0	0.0001	0	0	0	0	1.027e-05	3.541e-05	6.988e-05	4.6e-05	4.597e-05	7.708e-05	1.345e-05	8.819e-05	2.109e-05	1.527e-05	3.761e-05	2.575e-05	2.413e-05	0	0	0	0	0	0	8.819e-05	0	0	0.007	0.59928	D	0.021	0.58089	D	1.0	0.90584	D	0.979	0.74454	D	0.000235	0.47286	D	0.138388	0.898075	0.28266	N	2.67	0.78151	M	-0.62	0.71895	T	-2.84	0.59873	D	0.19	0.20793	-0.4223	0.71316	T	0.456	0.78784	T	10	0.6383041	0.68909	D	0.584274	0.96285	D	0.402	0.71558	.	.	0.732658207706	0.73027	0.29427374497470854	0.29340	0.0453608421685	0.04917	0.441378027201	0.30764	T	0.043848	0.26632	T	-0.220085	0.17981	T	-0.317245	0.42876	T	0.640078783035278	0.38041	D	0.790821	0.43180	T	0.15252525	0.34619	0.090294905	0.21166	0.15252525	0.34619	0.090294905	0.21166	-7.363	0.56643	T	.	.	0.083	0.09433	B	.	.	2.439007	0.31391	18.73	0.99898446360496063	0.97048	0.46993	0.27883	N	AEFDBCI	0.176925	0.30415	N	0.241793332271646	0.53235	3.493279	0.0690114002615695	0.42999	2.610943	0.999999990924872	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.578056	0.29568	0	0.636168	0.56350	0	.	.	4.16	3.14	0.35196	3.353000	0.51962	1.695000	0.28095	-0.194000	0.09177	0.999000	0.42656	0.481000	0.25102	0.003000	0.05239	0.507:0.0:0.493:0.0	3.011	0.05678	988	0.01987	.	.	.	.	.	.	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	0.001009	0.000000	0.000000	0.000000	0.000000	0.008772	0.000000	0.000000	0.07143	907.49	41	chr4	8227652	.	G	A	907.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=4.14;DP=281;ExcessHet=0;FS=4.853;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.54;ReadPosRankSum=-0.889;SOR=1.055	GT:AD:DP:GQ:PL	0/1:37,30:67:99:918,0,919	6	0	1	0
chr4	8612035	8612035	G	T	exonic	CPZ	.	nonsynonymous SNV	CPZ:NM_003652:exon7:c.G1203T:p.K401N,CPZ:NM_001014447:exon8:c.G1236T:p.K412N,CPZ:NM_001014448:exon8:c.G825T:p.K275N	.	429	1031	57	5	0	67	0.0314702	.	.	.	3210197	CPZ-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.167	.	0.0018	0.00938498	0.0060	0.0002	0.0016	0	0.0002	0.0025	0.0113	0.0326	0.0054333	840	154602	rs147588134	0.0037	0.0037	0.0027	0.0047	0.0326	0.0036	0.0036	0.0316	0.0312	0.0003	0.0022	0.0050	7.557e-05	0.0003	0.0170	0.0017	0.0049	0.0326	0.0027	0.0027	0.0024	0.0031	0.0328	0.0025	0.0024	0.0286	0.0270	0.0004	0.0011	0.0035	0.0049	0.0002	0.0002	0.0272	0.0021	0.0062	0.0328	0.002	0.72154	D	0.007	0.70582	D	0.988	0.64738	D	0.932	0.66722	D	0.000094	0.51296	U	0.169417	0.874553	0.35628	D	3.36	0.91202	M	2.71	0.12055	T	-3.04	0.64826	D	0.739	0.73916	-1.0183	0.24269	T	0.061	0.25563	T	10	0.006847203	0.00156	T	.	.	.	0.167	0.42761	0.538	0.64874	0.221019684889	0.21715	0.8342579297678895	0.83384	0.0121608488562	0.01158	0.535313785076	0.43783	T	0.163735	0.50891	T	-0.449663	0.01134	T	-0.394311	0.34046	T	0.0589441289532621	0.07000	T	0.791621	0.43272	T	0.79185885	0.83389	0.6615037	0.80165	0.7905499	0.83309	0.6615037	0.80165	-9.596	0.71455	D	0.5773041222848564	0.64423	0.643	0.71505	P	.;.;.	.;.;.	3.735368	0.53455	23.4	0.99758725900344469	0.84851	0.88154	0.47958	D	AEFBCI	0.492857	0.52932	N	0.224873122376152	0.52407	3.415049	0.122245908937183	0.45689	2.827621	0.461819498697238	0.20630	0.650006	0.45971	0	0.573888	0.26702	0	0.606735	0.37207	0	0.604944	0.38103	0	.	.	4.1	2.36	0.28258	1.955000	0.39997	6.090000	0.53436	-0.169000	0.11342	0.999000	0.42656	1.000000	0.68203	0.990000	0.65344	0.2816:0.0:0.7184:0.0	8.690	0.33424	982	0.03397	Peptidase M14, carboxypeptidase A|Peptidase M14, carboxypeptidase A|Metallocarboxypeptidase Z, carboxypeptidase domain;.;.	.	.	.	.	.	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	0.017120	0.005051	0.010870	0.011696	0.000000	0.025862	0.036585	0.034091	0.07143	4336.44	35	chr4	8612035	.	G	T	4336.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.687;DP=842;ExcessHet=0;FS=0.522;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.23;ReadPosRankSum=1.29;SOR=0.63	GT:AD:DP:GQ:PL	0/1:219,205:424:99:4347,0,4799	6	0	1	0
chr4	17708963	17708963	C	G	exonic	FAM184B	.	nonsynonymous SNV	FAM184B:NM_015688:exon2:c.G823C:p.D275H	.	428	1090	4	0	0	4	0.0018315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.444	0.0619822722143	0.0028	0.00119808	0.0020	0	0	0	0.0006	0.0031	0	0.0019	0.0011578	179	154602	rs61746992	0.0055	0.0052	0.0056	0.0053	0.0065	0.0054	0.0053	0.0064	0.0064	0.0006	0.0032	7.972e-05	2.798e-05	0.0006	0.0012	0.0065	0.0046	0.0021	0.0032	0.0032	0.0035	0.0029	0.0057	0.0030	0.0029	0.0053	0.0051	0.0009	0	0.0030	0	0	0.0008	0	0.0057	0.0014	0.0015	0.003	0.68238	D	0.012	0.63918	D	0.997	0.70673	D	0.988	0.77976	D	0.000283	0.46274	D	0.185429	0.999872	0.50225	D	2.535	0.73915	M	-1.12	0.77593	T	-4.07	0.74661	D	0.306	0.34552	0.231	0.86428	D	0.595	0.85534	D	10	0.010471642	0.00233	T	0.061982	0.68507	D	0.444	0.74657	.	.	0.349204839081	0.34528	0.32636864183420483	0.32549	.	.	0.579917430878	0.50074	T	0.273387	0.64582	T	-0.135875	0.30548	T	0.0414429	0.73022	D	0.0224460868422943	0.00959	T	0.805019	0.45286	T	0.67204344	0.76542	0.6060884	0.77100	0.67204344	0.76544	0.6060884	0.77101	-10.566	0.77225	D	.	.	0.626	0.69950	P	.	.	4.753106	0.76773	26.6	0.99523501741129838	0.69407	0.91498	0.53657	D	AEFDBI	0.388497	0.46808	N	0.685597694460493	0.78688	6.922407	0.664920780895457	0.79727	7.143662	0.997885199441137	0.36150	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.14	5.14	0.70008	6.775000	0.74812	7.654000	0.63860	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	18.791	0.91939	790	0.46189	.	.	.	.	.	.	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	0.001852	0.000000	0.000000	0.000000	0.000000	0.000000	0.010000	0.007812	0.07143	1222.53	33	chr4	17708963	.	C	G	1222.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.32;DP=262;ExcessHet=0;FS=2.873;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.22;ReadPosRankSum=-0.549;SOR=1.105	GT:AD:DP:GQ:PL	0/1:42,44:86:99:1233,0,999	6	0	1	0
chr4	42549031	42549031	T	C	exonic	ATP8A1	.	nonsynonymous SNV	ATP8A1:NM_001105529:exon18:c.A1589G:p.N530S,ATP8A1:NM_006095:exon19:c.A1634G:p.N545S	.	442	1074	6	0	0	6	0.00278552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.249	0.0332841137291	0.0045	0.00219649	0.0038	0.0011	0.0019	0	0.0029	0.0058	0.0033	0.0011	0.0038163	590	154602	rs34999127	0.0045	0.0046	0.0046	0.0045	0.0053	0.0044	0.0044	0.0052	0.0051	0.0008	0.0022	0.0039	0	0.0036	0.0033	0.0053	0.0037	0.0010	0.0033	0.0033	0.0037	0.0029	0.0056	0.0031	0.0030	0.0051	0.0050	0.0011	0	0.0022	0.0040	0	0.0018	0	0.0056	0.0038	0.0008	0.046	0.40573	D	0.051	0.48080	T	0.4	0.34852	B	0.305	0.41207	B	0.000001	0.62929	D	0.057093	0.999193	0.46300	D	2.055	0.56616	M	0.02	0.62318	T	-3.77	0.71397	D	0.606	0.62357	-0.6613	0.62219	T	0.220	0.58266	T	10	0.013582081	0.00288	T	0.033284	0.54875	D	0.249	0.55752	.	.	0.623952222724	0.62088	0.38185751039031435	0.38100	0.49660854432	0.48164	0.678872168064	0.64106	T	0.54653	0.84568	D	-0.513991	0.00476	T	-0.50455	0.21877	T	0.088663059494386	0.11058	T	0.975502	0.91380	D	0.26401547	0.49467	0.17372759	0.39720	0.26401547	0.49467	0.17372759	0.39719	-6.044	0.46646	T	.	.	0.068	0.02927	B	.;.	.;.	3.318688	0.45634	22.2	0.99444608305675963	0.64971	0.97542	0.75430	D	AEFBI	0.791075	0.71977	D	0.144517723449044	0.48554	3.066147	0.225482375466553	0.51264	3.310593	0.0699294393298245	0.15506	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.32	4.14	0.47821	6.548000	0.73797	4.232000	0.42657	-0.162000	0.11565	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.0:0.0806:0.0:0.9194	9.999	0.41087	704	0.57414	.;.	.	.	.	.	.	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	0.000505	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.07143	477.46	31	chr4	42549031	.	T	C	477.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.777;DP=217;ExcessHet=0;FS=3.794;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.68;ReadPosRankSum=1.47;SOR=1.246	GT:AD:DP:GQ:PL	0/1:33,22:55:99:488,0,747	6	0	1	0
chr4	44688026	44688026	T	C	exonic	GUF1	.	nonsynonymous SNV	GUF1:NM_001345868:exon9:c.T958C:p.Y320H,GUF1:NM_021927:exon9:c.T958C:p.Y320H	.	.	.	.	.	.	.	.	.	.	.	2228844	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.635	0.0688955163547	.	.	8.255e-06	0	0	0	0	1.502e-05	0	0	6.5e-06	1	154602	rs749034939	6.85e-06	6.84e-06	4.089e-06	9.638e-06	2.239e-05	3.46e-06	2.53e-06	3.81e-06	2.76e-06	0	2.239e-05	0	0	0	0	8.104e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.0	0.92824	D	0.997	0.70673	D	0.948	0.68536	D	0.000001	0.62929	D	0.059384	0.999999	0.58761	D	4.375	0.98560	H	-0.05	0.63403	T	-3.85	0.72353	D	0.748	0.74735	0.352	0.88370	D	0.545	0.83256	D	10	0.8813354	0.87445	D	0.068896	0.70578	D	0.635	0.86027	0.653	0.79068	0.630240563733	0.62722	0.7400599778126601	0.73950	0.406224518913	0.41498	0.809667289257	0.83441	D	0.500173	0.82088	D	0.243287	0.77971	D	0.111688	0.77684	D	0.997653305530548	0.92088	D	0.982502	0.94093	D	0.9617003	0.97451	0.9220057	0.96539	0.9617003	0.97451	0.9220057	0.96539	-12.357	0.86546	D	0.7262545445240607	0.80768	0.724	0.73971	P	.	.	5.085082	0.84888	28.4	0.99824726359155314	0.90677	0.98671	0.85391	D	AEFBI	0.868756	0.78901	D	0.929081174654271	0.93110	11.82751	0.857684582155401	0.93457	12.05524	0.999999999987952	0.74766	0.732398	0.92422	0	0.708844	0.79440	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.58	5.58	0.84361	7.663000	0.82798	7.883000	0.72619	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	14.936	0.70608	612	0.66786	Translation elongation factor EFTu-like, domain 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	.	.	.	.	.	.	.	.	0.07143	706.83	27	chr4	44688026	.	T	C	706.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.753;DP=208;ExcessHet=0;FS=1.116;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.14;ReadPosRankSum=-0.03;SOR=0.48	GT:AD:DP:GQ:PL	0/1:20,30:50:99:717,0,486	6	0	1	0
chr4	54273707	54273707	G	A	exonic	PDGFRA	.	nonsynonymous SNV	PDGFRA:NM_001347827:exon10:c.G1535A:p.R512Q,PDGFRA:NM_001347829:exon10:c.G1535A:p.R512Q,PDGFRA:NM_001347830:exon10:c.G1574A:p.R525Q,PDGFRA:NM_006206:exon10:c.G1535A:p.R512Q,PDGFRA:NM_001347828:exon11:c.G1610A:p.R537Q	Gastrointestinal stromal tumor, somatic;Hypereosinophilic syndrome, idiopathic, resistant to imatinib, Isolated cases, Somatic mutation	.	.	.	.	.	.	.	.	.	.	632310	not_provided|Hereditary_cancer-predisposing_syndrome|Gastrointestinal_stromal_tumor	MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Human_Phenotype_Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764,Orphanet:44890	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.363	0.0262489266991	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1174017872	2.737e-06	2.736e-06	1.362e-06	4.127e-06	3.597e-06	6.4e-07	4.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.597e-06	0	0	6.572e-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	0.432	0.09486	T	0.21	0.26714	T	1.0	0.90584	D	0.997	0.86255	D	0.019672	0.27206	U	0.000000	1	0.81001	D	1.57	0.39626	L	-0.92	0.75108	T	-1.22	0.30964	N	0.83	0.82559	-0.3580	0.73322	T	0.503	0.81242	D	10	0.750056	0.75570	D	0.026249	0.49171	D	0.363	0.68319	0.462	0.53079	0.850040274385	0.84859	0.8632161154814713	0.86285	1.15290462371	0.79275	0.525706887245	0.42430	T	0.113067	0.42983	T	0.138922	0.68223	D	-0.0382248	0.67821	D	0.984750747680664	0.75960	D	0.89611	0.63771	D	0.09509913	0.22375	0.10753294	0.25889	0.09509913	0.22375	0.10753294	0.25889	-6.197	0.47898	T	.	.	0.115	0.23041	B	.	.	4.648335	0.74066	26.1	0.99929089474907162	0.99279	0.99274	0.93794	D	AEFBI	0.935730	0.93103	D	0.585147377980617	0.72247	5.775789	0.618766619478623	0.76301	6.466231	0.999999999999971	0.74766	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	5.9	5.9	0.94952	8.783000	0.91453	8.549000	0.77521	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.711000	0.34484	0.0:0.0:1.0:0.0	20.279	0.98503	441	0.80015	.	.	.	.	.	.	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	593.83	25	chr4	54273707	.	G	A	593.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.24;DP=188;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.85;ReadPosRankSum=0.438;SOR=0.73	GT:AD:DP:GQ:PL	0/1:17,23:40:99:604,0,381	6	0	1	0
chr4	55105862	55105862	C	T	exonic	KDR	.	nonsynonymous SNV	KDR:NM_002253:exon12:c.G1615A:p.G539R	Hemangioma, capillary infantile, somatic	0	1517	5	0	0	5	0.00164528	.	.	.	138344	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.027	0.0102342181194	0.0016	0.000399361	0.0016	0.0003	0.0006	0	0.0002	0.0027	0.0011	0.0002	0.0015977	247	154602	rs55716939	0.0026	0.0027	0.0027	0.0026	0.0035	0.0026	0.0025	0.0031	0.0031	0.0005	0.0008	0.0003	0	0.0004	0.0035	0.0032	0.0030	0.0004	0.0015	0.0015	0.0017	0.0014	0.0029	0.0014	0.0013	0.0025	0.0024	0.0005	0	0.0009	0.0006	0	9.413e-05	0.0034	0.0029	0	0.0006	0.071	0.35165	T	0.19	0.28482	T	0.001	0.07471	B	0.021	0.19346	B	0.000157	0.49130	D	0.177064	0.65807	0.33026	D	2.25	0.63811	M	2.33	0.16492	T	-1.45	0.35597	N	0.325	0.36569	-1.0681	0.09836	T	0.035	0.14857	T	10	0.013275832	0.00282	T	0.010234	0.26522	T	0.027	0.05988	0.402	0.43245	0.0675242888579	0.06100	0.634589841994731	0.63392	0.213140638837	0.23823	0.394965738058	0.24367	T	0.097027	0.39943	T	-0.46025	0.00980	T	-0.435049	0.29363	T	0.0200182546383785	0.00703	T	0.876612	0.58915	D	0.3399509	0.56276	0.17928475	0.40652	0.29138824	0.52121	0.17396028	0.39757	-4.263	0.27655	T	.	.	0.276	0.50916	B	.;.	.;.	3.396920	0.47056	22.4	0.99696147715270844	0.80316	0.90752	0.52194	D	AEFBI	0.451862	0.50566	N	-0.100729818941264	0.37361	2.172521	0.0730026163629834	0.43198	2.626442	0.997466136739452	0.35646	0.722319	0.85440	0	0.573888	0.26702	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.52	4.49	0.54177	3.160000	0.50438	2.725000	0.34343	0.599000	0.40250	0.994000	0.38300	0.996000	0.32793	0.964000	0.52637	0.0:0.8751:0.0:0.1249	12.998	0.58061	715	0.56137	Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin-like domain|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	0	0	1	0	0.002518	0.000000	0.005435	0.005848	0.000000	0.000000	0.003049	0.000000	0.1429	3166.24	40	chr4	55105862	.	C	T	3166.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=2.04;DP=475;ExcessHet=0.3476;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=10.05;ReadPosRankSum=0.915;SOR=0.718	GT:AD:DP:GQ:PL	0/1:89,63:152:99:1496,0,2149	5	0	2	0
chr4	67946524	67946524	A	G	exonic	TMPRSS11A	.	nonsynonymous SNV	TMPRSS11A:NM_001114387:exon2:c.T59C:p.I20T,TMPRSS11A:NM_182606:exon2:c.T59C:p.I20T	.	424	1096	2	0	0	2	0.000911577	.	.	.	4085437	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.123	0.0241926162488	.	.	3.3e-05	0	8.675e-05	0	0	0	0	0.0002	2.59e-05	4	154602	rs756138747	2.465e-05	2.463e-05	1.771e-05	3.166e-05	0.0001	1.805e-05	1.602e-05	7.143e-05	5.496e-05	0	6.745e-05	0	0.0001	0	0	1.44e-05	3.315e-05	0.0001	1.313e-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	0.067	0.35918	T	0.169	0.31125	T	.	.	.	.	.	.	0.150002	0.17999	N	0.499327	1	0.08975	N	.	.	.	-2.74	0.91192	D	-3.51	0.72120	D	0.198	0.22998	-0.3644	0.73132	T	0.564	0.84161	D	10	0.10396984	0.19143	T	0.024193	0.47175	T	0.123	0.34020	0.376	0.38994	0.564243864375	0.56087	0.6790529180367584	0.67844	0.133513353763	0.15033	0.431710988283	0.29442	T	.	.	.	-0.150127	0.28291	T	-0.249824	0.49833	T	0.0547907027426142	0.06323	T	0.49745	0.17034	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.03552	B	.;.;.	.;.;.	0.782334	0.11523	8.123	0.61207096154077445	0.06651	0.14762	0.18572	N	AEFI	0.051622	0.09138	N	-0.847683905494326	0.12106	0.5881527	-0.861358791928399	0.13014	0.6728044	1.38592646467133E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.59	3.4	0.38031	1.671000	0.37129	-0.395000	0.09449	-0.552000	0.04894	0.060000	0.21767	0.000000	0.08366	0.002000	0.04165	0.8959:0.0:0.1041:0.0	6.932	0.23625	789	0.46346	.;.;.	.	.	.	.	.	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	0.000000	0.000000	0.008621	0.003049	0.000000	0.07143	865.83	35	chr4	67946524	.	A	G	865.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.552;DP=245;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.86;ReadPosRankSum=-0.414;SOR=0.633	GT:AD:DP:GQ:PL	0/1:35,38:73:99:876,0,815	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	0/1:53,58:111:99:1216,0,1299	5	0	2	0
chr4	70158818	70158818	C	A	exonic	PRR27	.	nonsynonymous SNV	PRR27:NM_214711:exon3:c.C566A:p.A189D	.	.	.	.	.	.	.	.	.	.	.	3901478	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.035	0.00371771076542	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1000902576	1.915e-05	1.915e-05	2.178e-05	1.65e-05	0.0002	1.328e-05	1.144e-05	1.543e-05	1.304e-05	0	0	0	0	0	0.0002	2.248e-05	1.656e-05	1.159e-05	2.63e-05	2.627e-05	1.285e-05	4.037e-05	6.541e-05	8.15e-06	5.14e-06	4.88e-06	1.83e-06	2.415e-05	0	6.541e-05	0	0	0	0	2.941e-05	0	0	0.08	0.33585	T	0.108	0.37589	T	0.343	0.33512	B	0.225	0.38015	B	.	.	.	.	1	0.08975	N	1.525	0.38595	L	1.4	0.33630	T	-1.89	0.44094	N	0.096	0.07673	-1.0098	0.26981	T	0.053	0.22539	T	9	0.084640324	0.14208	T	0.003718	0.08620	T	0.035	0.08770	0.301	0.26843	0.0401082797425	0.02173	0.12720746583964077	0.12646	0.0377085887375	0.04003	.	.	.	0.022443	0.17299	T	-0.201245	0.20626	T	-0.526851	0.19602	T	0.164807216078978	0.18220	T	.	.	.	0.096032895	0.22614	0.09191721	0.21635	0.096032895	0.22613	0.09191721	0.21635	-8.675	0.65583	D	.	.	0.174	0.38676	B	.;.	.;.	1.111664	0.14971	11.48	0.57509140013611237	0.05785	0.04924	0.10679	N	AEFDIJ	0.041536	0.06327	N	-0.901408065144344	0.10809	0.5183894	-0.972287178084202	0.10410	0.5241459	1.40791612554835E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.32	0.859	0.18173	-0.084000	0.11233	-4.048000	0.02373	0.542000	0.25261	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.5958:0.0:0.4042	7.227	0.25197	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	.	.	.	.	.	.	.	.	0.07143	983.49	37	chr4	70158818	.	C	A	983.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.607;DP=292;ExcessHet=0;FS=1.801;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.85;ReadPosRankSum=-0.082;SOR=0.491	GT:AD:DP:GQ:PL	0/1:42,41:83:99:994,0,1032	6	0	1	0
chr4	70642375	70642375	C	T	exonic	ENAM	.	nonsynonymous SNV	ENAM:NM_001368133:exon2:c.C295T:p.R99C,ENAM:NM_031889:exon9:c.C949T:p.R317C	Amelogenesis imperfecta, type IB, Autosomal dominant;Amelogenesis imperfecta, type IC, Autosomal recessive	0	1519	2	1	0	4	0.00131492	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.0162735152782	.	0.000199681	3.304e-05	0	0	0	0	0	0	0.0002	3.23e-05	5	154602	rs564877872	1.163e-05	1.163e-05	6.806e-06	1.65e-05	0.0002	7.08e-06	5.79e-06	0.0001	8.646e-05	0	0	0	0	0	0	1.799e-06	0	0.0002	6.567e-06	6.562e-06	0	1.343e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.051	0.39334	T	0.165	0.30926	T	0.999	0.77913	D	0.886	0.62898	P	0.881834	0.07240	N	1.056630	0.999174	0.21543	N	2.125	0.59049	M	1.47	0.31987	T	-1.37	0.33998	N	0.149	0.15187	-0.9389	0.42790	T	0.107	0.38832	T	10	0.05851236	0.06890	T	0.016274	0.37444	T	0.054	0.15330	0.205	0.12076	0.513226221338	0.50963	0.2336898415457953	0.23283	0.166635259758	0.18802	0.201683551073	0.00507	T	0.221651	0.58528	T	-0.441139	0.01273	T	-0.597143	0.13052	T	0.558170258998871	0.34786	D	0.946705	0.82942	D	0.057897292	0.11579	0.0632726	0.12510	0.057897292	0.11579	0.0632726	0.12510	-9.481	0.70741	D	.	.	0.176	0.38498	B	.;.	.;.	1.764613	0.22442	15.62	0.99597925915395646	0.74042	0.01664	0.05329	N	AEFBI	0.061352	0.11722	N	-0.286042685627231	0.29686	1.648512	-0.443836850908407	0.23725	1.295272	0.117653379184328	0.16806	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.93	-1.07	0.09459	-0.948000	0.04007	-0.213000	0.10835	0.599000	0.40250	0.001000	0.13787	0.000000	0.08366	0.007000	0.07825	0.0:0.4079:0.0:0.5921	10.023	0.41229	863	0.32847	.;.	.	.	.	.	.	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	1356.46	33	chr4	70642375	.	C	T	1356.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.965;DP=319;ExcessHet=0;FS=0.646;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.97;ReadPosRankSum=-1.568;SOR=0.72	GT:AD:DP:GQ:PL	0/1:80,56:136:99:1367,0,1954	6	0	1	0
chr4	73442372	73442372	A	C	exonic	AFP	.	nonsynonymous SNV	AFP:NM_001134:exon5:c.A559C:p.K187Q,AFP:NM_001354717:exon5:c.A85C:p.K29Q	Alpha-fetoprotein deficiency, Autosomal recessive	0	1434	86	2	0	90	0.030426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	.	0.0085	0.00579073	0.0107	0.0015	0.0046	0	0.0056	0.0148	0.0111	0.0120	0.0102198	1580	154602	rs35765619	0.0100	0.0100	0.0099	0.0101	0.0473	0.0098	0.0098	0.0427	0.0409	0.0021	0.0061	0.0598	0.0001	0.0062	0.0473	0.0092	0.0150	0.0114	0.0086	0.0086	0.0084	0.0089	0.0122	0.0082	0.0081	0.0108	0.0102	0.0018	0.0351	0.0122	0.0614	0	0.0041	0.0340	0.0095	0.0208	0.0122	0.205	0.20078	T	0.33	0.19721	T	0.79	0.44599	P	0.49	0.47330	P	0.000023	0.55875	D	0.114545	0.645196	0.32912	D	1.83	0.48079	L	0.85	0.47130	T	-0.26	0.11185	N	0.149	0.15187	-0.7760	0.56526	T	0.090	0.34683	T	10	0.0028496683	0.00045	T	.	.	.	0.090	0.26093	.	.	.	.	0.10880772504355984	0.10809	0.243530582748	0.26857	0.423839718103	0.28365	T	0.111791	0.42756	T	-0.543176	0.00321	T	-0.542623	0.18039	T	0.0308828407571469	0.02127	T	0.712529	0.32403	T	0.2085064	0.43089	0.17459998	0.39867	0.18125178	0.39286	0.17459998	0.39866	-3.377	0.14748	T	.	.	0.099	0.18828	B	.;.	.;.	2.461662	0.31716	18.82	0.98290296841271174	0.39945	0.67771	0.33554	D	AEFDBHCI	0.226950	0.35082	N	0.188298087251018	0.50637	3.251831	0.186493612588919	0.49107	3.117882	0.999999999849649	0.74766	0.516011	0.20929	0	0.59043	0.45803	0	0.573888	0.23631	0	0.586402	0.36253	0	.	.	5.33	4.11	0.47350	0.459000	0.21619	3.047000	0.36105	0.691000	0.84096	0.075000	0.22209	0.992000	0.31684	0.953000	0.50222	0.9082:0.0:0.0918:0.0	8.108	0.30059	783	0.47268	Serum albumin, N-terminal|Serum albumin, conserved site|Serum albumin, N-terminal|Serum albumin, N-terminal|Serum albumin, N-terminal;Serum albumin, N-terminal|Serum albumin, conserved site|Serum albumin, N-terminal|Serum albumin, N-terminal|Serum albumin, N-terminal	.	.	.	.	rs35765619	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	0.040785	0.050505	0.052989	0.014620	0.000000	0.077586	0.051829	0.022727	0.1429	1859.34	34	chr4	73442372	.	A	C	1859.34	.	AC=2;AF=0.143;AN=14;BaseQRankSum=2.06;DP=289;ExcessHet=0.3476;FS=0.615;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=12.74;ReadPosRankSum=0.831;SOR=0.796	GT:AD:DP:GQ:PL	0/1:42,43:85:99:1094,0,942	5	0	2	0
chr4	75597100	75597100	T	C	exonic	CDKL2	.	nonsynonymous SNV	CDKL2:NM_001330724:exon9:c.A1157G:p.N386S,CDKL2:NM_003948:exon9:c.A1157G:p.N386S	.	436	1085	1	0	0	1	0.000460617	.	.	.	3940297	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.042	0.0261170655178	.	0.000199681	9.884e-05	0	0	0	0	0	0	0.0007	8.41e-05	13	154602	rs563758976	4.583e-05	4.583e-05	2.995e-05	6.188e-05	0.0007	3.661e-05	3.347e-05	0.0005	0.0005	0	0	0	0	0	0	1.799e-06	0.0001	0.0007	6.565e-06	6.561e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.463	0.08660	T	0.459	0.12632	T	0.102	0.25827	B	0.024	0.20255	B	.	.	.	.	1	0.08975	N	0.69	0.16971	N	0.93	0.70014	T	-0.98	0.25986	N	0.151	0.16168	-1.0168	0.24755	T	0.129	0.43787	T	9	0.024222136	0.00659	T	0.026117	0.49051	D	0.042	0.11227	0.143	0.04650	0.427139414373	0.42328	0.03843915735260456	0.03789	0.0171929848995	0.01662	0.234485089779	0.02316	T	0.071684	0.34268	T	-0.520498	0.00437	T	-0.617843	0.11355	T	0.0244953238648933	0.01207	T	0.686731	0.29555	T	0.0342947	0.03822	0.043190863	0.05317	0.0342947	0.03822	0.043190863	0.05317	-2.364	0.04917	T	.	.	0.058	0.00636	B	.;.	.;.	0.064105	0.04743	1.369	0.30628482100941018	0.01685	0.04987	0.10759	N	AEFI	0.071432	0.14220	N	-1.17550993488669	0.05371	0.2447312	-1.15817185978397	0.06622	0.3193794	2.40096953448954E-5	0.03498	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	4.35	1.83	0.24279	1.285000	0.32866	2.789000	0.34784	-0.111000	0.15049	0.310000	0.25414	0.961000	0.29326	0.054000	0.15518	0.6581:0.0:0.0:0.3419	7.700	0.27783	914	0.21048	.;.	.	.	.	.	.	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	1264.49	37	chr4	75597100	.	T	C	1264.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.029;DP=299;ExcessHet=0;FS=2.644;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.29;ReadPosRankSum=0.928;SOR=0.982	GT:AD:DP:GQ:PL	0/1:62,50:112:99:1275,0,1660	6	0	1	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|1:69,40:109:99:0|1:87615952_GCGA_G:1045,0,2756:87615952	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|1:73,40:113:99:0|1:87615952_GCGA_G:1032,0,2904:87615952	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|1:73,40:113:99:0|1:87615952_GCGA_G:1032,0,2904:87615952	2	0	2	3
chr4	88094610	88094610	T	C	exonic	ABCG2	.	nonsynonymous SNV	ABCG2:NM_001257386:exon15:c.A1777G:p.M593V,ABCG2:NM_001348986:exon15:c.A1787G:p.N596S,ABCG2:NM_001348987:exon15:c.A1781G:p.N594S,ABCG2:NM_001348989:exon15:c.A1787G:p.N596S,ABCG2:NM_004827:exon15:c.A1787G:p.N596S,ABCG2:NM_001348985:exon16:c.A1787G:p.N596S,ABCG2:NM_001348988:exon16:c.A1787G:p.N596S	.	418	1101	3	0	0	3	0.00136054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.147	0.0518643486553	7.7e-05	0.000199681	0.0005	9.615e-05	8.646e-05	0.0005	0	4.497e-05	0	0.0034	0.0004786	74	154602	rs147547385	0.0003	0.0003	0.0002	0.0004	0.0039	0.0003	0.0003	0.0035	0.0034	5.974e-05	6.708e-05	0	0.0003	0	0.0005	6.655e-05	0.0003	0.0039	0.0002	0.0002	0.0001	0.0003	0.0039	0.0002	0.0001	0.0026	0.0021	2.406e-05	0	0.0002	0	0.0004	0	0	0.0001	0.0005	0.0039	0.159	0.23813	T	0.144	0.33109	T	0.021	0.18474	B	0.059	0.26602	B	0.000789	0.41772	D	0.262816	0.89663	0.36073	D	.	.	.	-1.97	0.85173	D	-2.19	0.49352	N	0.538	0.56576	-0.4360	0.70863	T	0.425	0.76863	T	10	0.0076381564	0.00173	T	0.051864	0.64837	D	0.162	0.41843	.	.	0.648914522055	0.64600	.	.	0.0277202138358	0.02835	0.437941759825	0.30296	T	0.134439	0.46568	T	-0.152873	0.27863	T	0.00584209	0.70714	D	0.0255781330640464	0.01350	T	0.710329	0.32115	T	0.35053357	0.57108	0.24949972	0.50523	0.35053357	0.57109	0.24949972	0.50522	-6.837	0.52834	T	.	.	0.071	0.03811	B	.	.	1.616046	0.20643	14.85	0.90459334535290736	0.19717	0.35101	0.25223	N	AEFBI	0.367276	0.45479	N	-0.587757812939553	0.19315	1.009951	-0.533891636186449	0.21234	1.147791	0.997786925265109	0.36027	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.58	4.4	0.52402	3.054000	0.49600	0.593000	0.19842	0.663000	0.56723	0.985000	0.35982	0.216000	0.23679	0.405000	0.26894	0.0:0.0824:0.0:0.9176	9.631	0.38947	563	0.71062	.	.	.	.	.	.	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	0.001359	0.000000	0.000000	0.000000	0.000000	0.007576	0.07143	1086.44	37	chr4	88094610	.	T	C	1086.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.21;DP=300;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.29;ReadPosRankSum=-1.713;SOR=0.723	GT:AD:DP:GQ:PL	0/1:66,51:117:99:1097,0,1532	6	0	1	0
chr4	99318097	99318097	C	G	exonic	ADH1B	.	nonsynonymous SNV	ADH1B:NM_000668:exon3:c.G208C:p.A70P,ADH1B:NM_001286650:exon4:c.G88C:p.A30P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.203	0.00535122917252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.83351	D	.	.	.	.	.	.	0.274284	0.15067	N	0.646799	0.986388	0.24621	N	.	.	.	3.67	0.04188	T	-2.9	0.60827	D	0.403	0.44379	-1.0901	0.05515	T	0.040	0.17404	T	10	0.78878886	0.78477	D	0.005351	0.13710	T	0.203	0.48915	0.793	0.91438	0.298403945805	0.29456	0.868512317625715	0.86816	0.674296566844	0.59635	0.391434371471	0.23871	T	0.010873	0.09774	T	-0.116403	0.33711	T	-0.404982	0.32804	T	0.962773263454437	0.66465	D	0.949205	0.80472	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.888	0.85099	P	.;.;.;.	.;.;.;.	3.508601	0.49119	22.7	0.99207734913482859	0.55472	0.90290	0.51349	D	AEFDGBI	0.896173	0.83696	D	-0.172128327332495	0.34298	1.956007	-0.333588702841019	0.27021	1.496536	0.828569575732975	0.24652	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.17	2.36	0.28258	3.367000	0.52075	3.858000	0.40123	-0.233000	0.07663	0.778000	0.29449	0.208000	0.23622	0.125000	0.19370	0.168:0.7474:0.0:0.0847	8.164	0.30373	624	0.65661	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;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site|Polyketide synthase, enoylreductase 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	978.75	100	chr4	99318097	.	C	G	978.75	.	AC=4;AF=0.4;AN=10;BaseQRankSum=-2.434;DP=759;ExcessHet=3.1439;FS=289.841;MLEAC=5;MLEAF=0.5;MQ=59.98;MQRankSum=0;QD=1.93;ReadPosRankSum=-0.36;SOR=10.885	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:106,51:171:99:.:.:283,0,1689:.	1	0	4	2
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	0/1:75,55:130:99:.:.:371,0,1028:.	0	0	6	1
chr4	105648651	105648651	A	T	exonic	ARHGEF38	.	nonsynonymous SNV	ARHGEF38:NM_001242729:exon7:c.A977T:p.H326L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.301	0.0801146133614	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.004	0.74150	D	.	.	.	.	.	.	.	.	.	.	0.999929	0.51308	D	1.875	0.49914	L	0.16	0.60610	T	-7.95	0.96317	D	0.465	0.50146	-0.4453	0.70555	T	0.305	0.67612	T	7	0.35388303	0.52184	T	0.080115	0.73387	D	0.301	0.62179	0.42	0.46200	0.527958119908	0.52444	0.3831793919884473	0.38232	0.289006806369	0.31306	0.683838188648	0.64821	T	0.087702	0.37999	T	-0.0241895	0.48254	T	-0.272523	0.47565	T	0.988468706607819	0.78791	D	0.79722	0.44094	T	0.58016324	0.71617	0.5818156	0.75758	0.58016324	0.71619	0.5818156	0.75759	-10.808	0.78594	D	.	.	0.438	0.61577	A	.	.	4.003280	0.59000	24.0	0.9718220933285513	0.32727	0.97539	0.75410	D	AEFBI	0.786087	0.71628	D	0.43721980057395	0.63482	4.582768	0.495075602475038	0.67663	5.11428	0.999674289067756	0.41644	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.3	5.3	0.74745	6.016000	0.70451	9.208000	0.79221	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.287	0.73535	890	0.26919	BAR 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	638.53	33	chr4	105648651	.	A	T	638.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.432;DP=243;ExcessHet=0;FS=3.514;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.3;ReadPosRankSum=-0.444;SOR=0.573	GT:AD:DP:GQ:PL	0/1:32,30:62:99:649,0,834	6	0	1	0
chr4	106925831	106925831	C	T	exonic	DKK2	.	nonsynonymous SNV	DKK2:NM_014421:exon2:c.G341A:p.G114D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.154	0.0291245027067	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.63226	D	0.021	0.63918	D	0.951	0.53992	P	0.735	0.55480	P	0.000005	0.62929	D	0.107028	0.994	0.42059	D	1.7	0.43825	L	0.85	0.48142	T	-1.85	0.43334	N	0.685	0.69913	-0.7097	0.59967	T	0.248	0.61681	T	10	0.61480206	0.67645	D	0.029125	0.51692	D	0.154	0.40340	0.678	0.81594	0.264728329957	0.26087	0.8653075087143794	0.86495	1.22684531646	0.81226	0.752565979958	0.74825	T	0.442734	0.78679	T	-0.0546003	0.43745	T	-0.316206	0.42988	T	0.972929537296295	0.69890	D	0.886311	0.70760	D	0.37360525	0.58850	0.5223394	0.72403	0.37360525	0.58851	0.5223394	0.72404	-7.397	0.56883	T	.	.	0.367	0.59672	A	.;.;.	.;.;.	4.655487	0.74259	26.1	0.99823967070247299	0.90677	0.91016	0.52696	D	AEFBI	0.580056	0.58062	D	0.550661877863298	0.70121	5.455422	0.576481034080092	0.73257	5.941059	0.0968722313810203	0.16265	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	3.206000	0.50800	7.598000	0.61467	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	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	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	268.63	38	chr4	106925831	.	C	T	268.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-5.989;DP=329;ExcessHet=0;FS=61.025;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=1.85;ReadPosRankSum=0.704;SOR=6.358	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:122,23:145:99:0|1:106925831_C_T:279,0,4835:106925831	6	0	1	0
chr4	106925832	106925832	C	T	exonic	DKK2	.	nonsynonymous SNV	DKK2:NM_014421:exon2:c.G340A:p.G114S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.0128117469006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.848e-07	2.736e-06	1.363e-06	0	8.998e-07	0	0	.	.	0	0	0	0	0	0	8.998e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.31383	T	0.211	0.26631	T	0.43	0.35583	B	0.182	0.35926	B	0.000005	0.62929	D	0.107028	0.983825	0.40064	D	0.385	0.12166	N	1.0	0.42502	T	0.11	0.05706	N	0.394	0.43514	-1.0438	0.16177	T	0.127	0.43277	T	10	0.35083738	0.51947	T	0.012812	0.31705	T	0.118	0.32913	0.478	0.55663	0.244449712813	0.24043	0.7762054454360905	0.77570	1.06429463323	0.76581	0.629008471966	0.57004	T	0.204767	0.56362	T	-0.183324	0.23242	T	-0.501108	0.22233	T	0.944571077823639	0.62088	D	0.874113	0.62218	D	0.13693072	0.31725	0.19670437	0.43414	0.13693072	0.31725	0.19670437	0.43413	-2.414	0.05219	T	.	.	0.062	0.02765	B	.;.;.	.;.;.	3.818082	0.55117	23.6	0.99853102462042453	0.93191	0.91327	0.53310	D	AEFBI	0.511669	0.54020	D	0.171727963477029	0.49844	3.180471	0.28848329974208	0.54864	3.650462	0.106605283266664	0.16534	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	2.352000	0.43735	7.597000	0.61435	0.549000	0.26987	0.976000	0.34826	1.000000	0.68203	0.991000	0.66497	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	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	188.63	62	chr4	106925832	.	C	T	188.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-5.103;DP=352;ExcessHet=0;FS=61.025;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=1.35;ReadPosRankSum=0.593;SOR=6.358	GT:AD:DP:GQ:PL	0/1:122,18:145:99:199,0,4887	6	0	1	0
chr4	106925835	106925835	C	T	exonic	DKK2	.	nonsynonymous SNV	DKK2:NM_014421:exon2:c.G337A:p.D113N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.270	0.0409605523354	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.157	0.25560	T	0.159	0.31527	T	0.997	0.70673	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.58	0.39772	L	0.73	0.50721	T	-1.13	0.31778	N	0.763	0.76111	-0.6682	0.61910	T	0.255	0.62507	T	10	0.8717991	0.86449	D	0.040961	0.59663	D	0.270	0.58507	0.747	0.87821	0.571105923196	0.56776	0.8853690277812167	0.88505	1.05113681247	0.76148	0.77137362957	0.77630	T	0.371317	0.73571	T	-0.11651	0.33696	T	-0.405135	0.32787	T	0.988464534282684	0.78791	D	0.833117	0.66017	T	0.15710528	0.35417	0.20876941	0.45193	0.15710528	0.35417	0.20876941	0.45192	-5.023	0.37089	T	.	.	0.512	0.65118	A	.;.;.	.;.;.	4.890499	0.80292	27.3	0.99916574834063099	0.98449	0.98670	0.85379	D	AEFBI	0.928019	0.91157	D	0.711950777066906	0.80415	7.289328	0.723652254566983	0.84173	8.219279	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	5.813000	0.68876	7.598000	0.61467	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	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	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	268.63	66	chr4	106925835	.	C	T	268.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-5.46;DP=357;ExcessHet=0;FS=61.393;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=1.85;ReadPosRankSum=0.579;SOR=6.358	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:122,23:145:99:0|1:106925831_C_T:279,0,4814:106925831	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|1:115,32:147:44:1|0:106925833_A_G:44,0,2147:106925833	3	0	3	1
chr4	112430694	112430694	A	G	exonic	ALPK1	.	nonsynonymous SNV	ALPK1:NM_001253884:exon10:c.A913G:p.K305E,ALPK1:NM_001102406:exon11:c.A1147G:p.K383E,ALPK1:NM_025144:exon11:c.A1147G:p.K383E	.	435	1063	24	0	0	24	0.0111628	.	.	.	2113218	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.020	0.00449991429976	0.0010	0.00199681	0.0024	0.0003	0.0026	0	0.0002	0.0018	0.0033	0.0084	0.0023932	370	154602	rs147641444	0.0022	0.0022	0.0020	0.0024	0.0083	0.0022	0.0021	0.0078	0.0076	0.0002	0.0019	0.0029	2.519e-05	0.0001	0.0055	0.0019	0.0026	0.0083	0.0012	0.0012	0.0014	0.0011	0.0077	0.0011	0.0010	0.0057	0.0050	0.0003	0	0.0010	0.0046	0.0002	0	0.0034	0.0014	0.0019	0.0077	0.174	0.22660	T	0.762	0.05238	T	0.023	0.18885	B	0.01	0.14941	B	0.108754	0.02618	N	1.678220	1	0.08975	N	0.345	0.11182	N	4.25	0.02564	T	-0.27	0.12472	N	0.131	0.14338	-0.9445	0.41895	T	0.005	0.01506	T	10	0.0044231415	0.00090	T	0.004	0.11063	T	0.020	0.03691	.	.	0.148003135375	0.14442	.	.	0.134647161538	0.15172	0.21466101706	0.01025	T	0.00734	0.06752	T	-0.595399	0.00155	T	-0.621203	0.11091	T	0.00529022771776679	0.00057	T	0.776522	0.40874	T	0.16763307	0.37172	0.09509976	0.22539	0.2162774	0.44082	0.17180938	0.39390	-6.965	0.53778	T	0.2458817418636663	0.33302	0.112	0.21840	B	.;.;.	.;.;.	-0.796730	0.01113	0.051	0.71439283827121958	0.09629	0.10090	0.15691	N	AEFGBI	0.110451	0.21903	N	-1.45166443637729	0.02203	0.09704503	-1.55238449799688	0.01960	0.08946916	0.998452585156744	0.36996	0.693126	0.56070	0	0.659464	0.62310	0	0.573888	0.23631	0	0.615788	0.45269	1	.	.	5.72	-9.7	0.00436	-0.631000	0.05593	-0.742000	0.07615	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.071000	0.16709	0.2862:0.4148:0.2228:0.0763	4.626	0.11865	798	0.45050	.;.;.	.	.	.	.	.	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	0.005539	0.000000	0.001359	0.005848	0.000000	0.008621	0.012195	0.015152	0.1429	2427.65	43	chr4	112430694	.	A	G	2427.65	.	AC=2;AF=0.143;AN=14;BaseQRankSum=2.33;DP=360;ExcessHet=0.3476;FS=7.757;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=13.72;ReadPosRankSum=-0.074;SOR=0.354	GT:AD:DP:GQ:PL	0/1:58,55:113:99:1509,0,1497	5	0	2	0
chr4	119271640	119271640	G	A	exonic	USP53	.	nonsynonymous SNV	USP53:NM_001371396:exon13:c.G1627A:p.D543N,USP53:NM_001371397:exon14:c.G1780A:p.D594N,USP53:NM_001371399:exon14:c.G1780A:p.D594N,USP53:NM_001371398:exon15:c.G1780A:p.D594N,USP53:NM_019050:exon15:c.G1780A:p.D594N,USP53:NM_001371395:exon16:c.G1780A:p.D594N	.	430	1089	3	0	0	3	0.00137552	.	.	.	2269080	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.289	0.0185352585575	.	.	8.381e-06	0	0	0	0	0	0	6.098e-05	6.5e-06	1	154602	rs748278992	9.579e-06	9.577e-06	8.169e-06	1.1e-05	0.0002	5.56e-06	4.35e-06	3.85e-06	2.76e-06	0	0	0	0	0	0.0002	8.094e-06	3.312e-05	2.32e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999649	0.48019	D	3.175	0.88760	M	1.87	0.24085	T	-3.77	0.71397	D	0.843	0.97426	-0.8533	0.51739	T	0.180	0.52629	T	10	0.8430111	0.83460	D	0.018535	0.40637	T	0.289	0.60808	0.404	0.43573	0.913352281024	0.91248	0.4721300014297088	0.47131	0.604286070432	0.55376	0.60260784626	0.53273	T	0.173703	0.52267	T	-0.141768	0.29610	T	-0.340786	0.40255	T	0.993717789649963	0.84629	D	0.939306	0.77145	D	0.759889	0.81446	0.6659668	0.80413	0.759889	0.81448	0.6659668	0.80414	-7.192	0.55424	T	0.9669684756440228	0.98953	0.761	0.75547	P	.;.	.;.	4.987418	0.82664	27.8	0.9993191752488142	0.99439	0.99613	0.97991	D	AEFDGBI	0.899098	0.84310	D	0.914353333171289	0.92445	11.42724	0.90085709822688	0.95610	13.78865	0.999999999999885	0.74766	0.730579	0.87903	0	0.588015	0.36545	0	0.608884	0.39905	0	0.648885	0.59868	0	.	.	5.7	5.7	0.88690	9.310000	0.95328	11.831000	0.97525	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	18.012	0.89148	546	0.72524	.;.	.	.	.	.	.	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	909.44	33	chr4	119271640	.	G	A	909.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.228;DP=304;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.33;ReadPosRankSum=-0.037;SOR=0.716	GT:AD:DP:GQ:PL	0/1:81,43:124:99:920,0,2081	6	0	1	0
chr4	121843997	121843997	T	C	exonic	BBS7	.	nonsynonymous SNV	BBS7:NM_018190:exon12:c.A1235G:p.D412G,BBS7:NM_176824:exon12:c.A1235G:p.D412G	Bardet-Biedl syndrome 7, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	519717	Bardet-Biedl_syndrome_7|not_provided|Retinal_dystrophy|Bardet-Biedl_syndrome|BBS7-related_ciliopathy	MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984,Orphanet:110|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:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110|MONDO:MONDO:1040042,MedGen:CN378628	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.781	0.1707333562	0.0017	0.000399361	0.0022	0.0005	0.0014	0	0.0009	0.0039	0.0045	0.0004	0.0013648	211	154602	rs111442398	0.0021	0.0021	0.0021	0.0020	0.0024	0.0020	0.0020	0.0023	0.0023	0.0004	0.0012	0.0050	0	0.0002	0.0004	0.0024	0.0018	0.0004	0.0015	0.0015	0.0016	0.0013	0.0024	0.0013	0.0012	0.0021	0.0020	0.0004	0	0.0017	0.0029	0	0.0002	0	0.0024	0.0019	0.0004	0.019	0.50132	D	0.013	0.63109	D	0.917	0.50750	P	0.732	0.55359	P	0.000000	0.84330	D	0.000000	1	0.81001	D	3.055	0.86842	M	-1.11	0.77466	T	-5.0	0.82341	D	0.748	0.74735	0.221	0.86269	D	0.526	0.82350	D	10	0.04046455	0.02617	T	0.170733	0.84821	D	0.781	0.92705	.	.	0.949250549416	0.94871	0.6588334589756615	0.65820	0.469089488547	0.46223	0.705648303032	0.67962	T	0.643882	0.89111	D	0.0475979	0.58033	T	0.296548	0.88040	D	0.0315356413692946	0.02231	T	0.939406	0.77188	D	0.64425296	0.75057	0.5870026	0.76046	0.656175	0.75695	0.5773257	0.75509	-10.895	0.80674	D	0.770651034000076	0.85167	0.584	0.68235	P	.;.	.;.	4.220633	0.63840	24.6	0.99808969547964721	0.89264	0.99315	0.94380	D	AEFBI	0.783550	0.71450	D	0.761614880273242	0.83659	8.075693	0.762744587143329	0.87107	9.109026	0.999999265673213	0.74766	0.651	0.46895	0	0.633656	0.55848	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	6.08	6.08	0.98982	6.186000	0.71955	6.022000	0.52807	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:0.0:1.0	16.644	0.85012	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	0.000505	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.07143	488.53	22	chr4	121843997	.	T	C	488.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.23;DP=183;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.53;ReadPosRankSum=1.17;SOR=0.859	GT:AD:DP:GQ:PL	0/1:20,19:39:99:499,0,492	6	0	1	0
chr4	122429651	122429651	C	G	exonic	ADAD1	.	nonsynonymous SNV	ADAD1:NM_001159285:exon12:c.C1610G:p.A537G,ADAD1:NM_001159295:exon12:c.C1589G:p.A530G,ADAD1:NM_139243:exon13:c.C1643G:p.A548G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.855	0.557971296837	.	.	0.0002	0	8.66e-05	0	0	2.999e-05	0	0.0013	0.0001617	25	154602	rs575025883	0.0001	0.0001	6.131e-05	0.0002	0.0016	9.475e-05	8.956e-05	0.0014	0.0013	0	2.237e-05	0	2.525e-05	0	0.0003	7.199e-06	0.0001	0.0016	7.884e-05	7.875e-05	3.856e-05	0.0001	0.0023	4.496e-05	3.512e-05	0.0013	0.0010	0	0	0	0	0	0	0	1.47e-05	0	0.0023	0.0	0.91255	D	0.014	0.62352	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.73	0.94857	H	-3.57	0.94904	D	-3.47	0.67824	D	0.631	0.64733	1.046	0.98031	D	0.917	0.97237	D	10	0.5402536	0.63678	D	0.557971	0.95953	D	0.855	0.95544	.	.	0.7623545316	0.76018	0.4742541421825707	0.47344	0.61259746828	0.55850	0.494299292564	0.38036	T	0.872992	0.97272	D	-0.0610739	0.42738	T	0.126265	0.78648	D	0.782279253005981	0.45193	D	0.823018	0.48339	T	0.79842234	0.83805	0.761166	0.85889	0.79842234	0.83806	0.761166	0.85890	-7.926	0.60565	D	.	.	0.234	0.53363	B	.;.;.	.;.;.	4.748569	0.76647	26.6	0.99773576239481288	0.86088	0.94060	0.59991	D	AEFBI	0.564063	0.57100	D	0.801957106097556	0.86229	8.818605	0.743895710755954	0.85699	8.659521	0.977517064563439	0.29829	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.03	5.03	0.67015	6.000000	0.70344	7.606000	0.61733	0.544000	0.25403	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	17.543	0.87752	912	0.21483	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	0.002014	0.005051	0.001359	0.000000	0.000000	0.000000	0.000000	0.007576	0.07143	750.53	33	chr4	122429651	.	C	G	750.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.507;DP=256;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.15;ReadPosRankSum=0.635;SOR=0.758	GT:AD:DP:GQ:PL	0/1:48,34:82:99:761,0,1116	6	0	1	0
chr4	125316935	125316935	G	T	exonic	FAT4	.	nonsynonymous SNV	FAT4:NM_001291285:exon2:c.G524T:p.R175L,FAT4:NM_001291303:exon2:c.G524T:p.R175L,FAT4:NM_024582:exon2:c.G524T:p.R175L	Hennekam lymphangiectasia-lymphedema syndrome 2, Autosomal recessive;Van Maldergem syndrome 2, Autosomal recessive	423	1090	9	0	0	9	0.00411147	.	.	.	367869	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.237	0.0316835486821	0.0036	0.000998403	0.0030	0.0006	0.0017	0.0001	0.0014	0.0040	0.0045	0.0030	0.0028654	443	154602	rs143534324	0.0035	0.0035	0.0034	0.0035	0.0160	0.0034	0.0033	0.0133	0.0123	0.0006	0.0020	0.0057	0	0.0013	0.0160	0.0037	0.0034	0.0037	0.0025	0.0025	0.0028	0.0023	0.0042	0.0023	0.0022	0.0038	0.0036	0.0007	0	0.0012	0.0069	0	0.0008	0.0102	0.0042	0.0028	0.0027	0.286	0.15201	T	0.028	0.54934	D	0.999	0.77913	D	0.992	0.80445	D	0.003351	0.35069	U	0.000000	1	0.81001	D	1.525	0.38595	L	0.67	0.52187	T	-2.48	0.54059	N	0.831	0.82660	-0.8145	0.54275	T	0.193	0.54652	T	10	0.029752672	0.01101	T	0.031684	0.53708	D	0.237	0.54074	.	.	0.507288889495	0.50368	0.7345707470783442	0.73402	0.7122470772	0.61757	0.555426955223	0.46622	T	0.330726	0.70088	T	-0.17569	0.24380	T	-0.0259818	0.68634	D	0.0259580726104758	0.01401	T	0.937106	0.76374	D	0.30846947	0.53654	0.3555268	0.61079	0.30846947	0.53654	0.3555268	0.61078	-6.183	0.47785	T	.	.	0.219	0.44935	B	.	.	4.212454	0.63657	24.6	0.9973472720468588	0.83047	0.93516	0.58430	D	AEFDBCI	0.659604	0.63046	D	0.542376207711452	0.69618	5.382788	0.515163213172642	0.69008	5.299596	1.0	0.98316	0.446893	0.09132	0	0.563428	0.19063	0	0.503968	0.08637	0	0.581474	0.35302	0	.	.	5.11	5.11	0.69188	5.708000	0.68030	7.552000	0.60294	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.770000	0.36519	0.0:0.0:1.0:0.0	16.730	0.85292	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	0.010070	0.005051	0.019022	0.002924	0.000000	0.008621	0.006098	0.003788	0.07143	3339.44	34	chr4	125316935	.	G	T	3339.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.257;DP=542;ExcessHet=0;FS=3.64;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.15;ReadPosRankSum=2.07;SOR=0.493	GT:AD:DP:GQ:PL	0/1:108,128:236:99:3350,0,2673	6	0	1	0
chr4	127885807	127885807	G	A	exonic	PLK4	.	nonsynonymous SNV	PLK4:NM_001190799:exon4:c.G341A:p.R114H,PLK4:NM_001190801:exon5:c.G314A:p.R105H,PLK4:NM_014264:exon5:c.G437A:p.R146H	Microcephaly and chorioretinopathy, autosomal recessive, 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	764321	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.106	0.0101030664209	0.0002	.	0.0003	0	0.0002	0	0.0002	0.0004	0	0	0.0002135	33	154602	rs35232579	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0	0	0	0	9.36e-05	0	0.0002	0.0001	3.478e-05	9.213e-05	9.198e-05	5.144e-05	0.0001	0.0002	5.536e-05	4.371e-05	0.0001	7.896e-05	2.418e-05	0	6.555e-05	0	0	0	0	0.0002	0	0	0.036	0.47745	D	0.107	0.44302	T	0.211	0.29987	B	0.035	0.22741	B	0.000093	0.51296	D	0.197045	0.999989	0.19363	N	0.81	0.20779	L	-0.17	0.65563	T	-2.3	0.53736	N	0.154	0.28264	-0.9588	0.39405	T	0.123	0.42589	T	10	0.094498664	0.16807	T	0.010103	0.26235	T	0.106	0.30130	.	.	0.460956337413	0.45718	0.4043576593240521	0.40351	0.127094639181	0.14323	0.569076657295	0.48546	T	0.255733	0.62656	T	-0.302408	0.08434	T	-0.356009	0.38516	T	0.0644061899794637	0.07842	T	0.881912	0.72857	D	0.228681	0.45592	0.16834244	0.38787	0.2819666	0.51237	0.19482009	0.43125	-8.063	0.63625	D	.	.	0.076	0.16843	B	.;.;.;.;.	.;.;.;.;.	2.635046	0.34271	19.58	0.98772518666688947	0.46002	0.74575	0.36485	D	AEFDBCI	0.178210	0.30547	N	-0.348767684420525	0.27317	1.497802	-0.220478993054386	0.30802	1.737519	0.999952857833047	0.48110	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	6.03	4.32	0.50899	1.763000	0.38090	1.252000	0.25176	0.676000	0.76740	1.000000	0.71638	0.613000	0.25778	0.997000	0.79791	0.2028:0.0:0.7972:0.0	10.671	0.44950	838	0.37812	Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain;.;Protein kinase domain|Protein kinase 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	.	.	.	.	.	.	.	.	0.07143	1715.44	34	chr4	127885807	.	G	A	1715.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.121;DP=347;ExcessHet=0;FS=0.583;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.4;ReadPosRankSum=-0.015;SOR=0.612	GT:AD:DP:GQ:PL	0/1:87,78:165:99:1726,0,2013	6	0	1	0
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	0/1:57,24:81:99:.:.:289,0,1656:.	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	0/1:57,14:80:99:.:.:186,0,1708:.	0	0	6	1
chr4	154235866	154235866	T	A	exonic	DCHS2	.	nonsynonymous SNV	DCHS2:NM_001358235:exon20:c.A8786T:p.N2929I	.	10	1510	2	0	0	2	0.000661813	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.604	0.0511056677221	.	0.000199681	0.0001	0	8.649e-05	0	0	8.995e-05	0.0011	0.0006	0.0001229	19	154602	rs537787483	9.441e-05	9.44e-05	7.215e-05	0.0001	0.0008	8.135e-05	7.651e-05	0.0007	0.0006	0	0	0	0	0	0.0005	4.766e-05	0.0001	0.0008	3.94e-05	3.937e-05	0	8.057e-05	0.0010	1.714e-05	1.129e-05	0.0004	0.0003	0	0	0	0	0	0	0	0	0.0005	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	0.999987	0.54805	D	.	.	.	.	.	.	.	.	.	.	.	0.269	0.87060	D	0.540	0.83013	D	10	0.6054327	0.67147	D	0.051106	0.64522	D	0.604	0.84398	.	.	.	.	0.4922295974068371	0.49143	0.46716595594	0.46101	0.537127912045	0.44040	T	.	.	.	-0.0244563	0.48217	T	0.102939	0.77102	D	0.881198525428772	0.53124	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.760	0.75478	P	.	.	4.570163	0.72093	25.8	0.99158896619805648	0.54043	0.99144	0.91875	D	AEI	0.916970	0.88391	D	0.847184014184848	0.88948	9.774173	0.761991556586169	0.87050	9.09017	0.999924202383852	0.46280	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	6.04	6.04	0.98025	8.017000	0.88732	7.892000	0.73106	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	16.588	0.84597	744	0.52588	Cadherin-like	.	.	.	.	.	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	1738.63	43	chr4	154235866	.	T	A	1738.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.487;DP=342;ExcessHet=0;FS=4.868;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.59;ReadPosRankSum=-0.687;SOR=0.507	GT:AD:DP:GQ:PL	0/1:78,72:150:99:1749,0,1896	6	0	1	0
chr4	154612018	154612018	T	C	exonic	FGG	.	nonsynonymous SNV	FGG:NM_000509:exon3:c.A307G:p.N103D,FGG:NM_021870:exon3:c.A307G:p.N103D	Afibrinogenemia, congenital, Autosomal recessive;Dysfibrinogenemia, congenital;Hypodysfibrinogenemia;Hypofibrinogenemia, congenital, Autosomal recessive	.	.	.	.	.	.	.	0.0002	0.108	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.288	0.0638422850705	.	.	4.158e-05	0	0	0	0	3.024e-05	0	0.0002	3.23e-05	5	154602	rs746529955	8.901e-06	9.577e-06	5.45e-06	1.239e-05	0.0002	4.97e-06	3.83e-06	2.998e-05	2.04e-05	0	0	0	0	0	0.0002	3.598e-06	3.315e-05	6.965e-05	6.566e-06	6.561e-06	0	1.343e-05	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0005	0	0.743	0.08286	T	0.487	0.16717	T	0.0	0.02946	B	0.001	0.04355	B	0.750328	0.06480	N	1.111250	1	0.81001	D	0.785	0.19527	N	-1.62	0.82347	D	-0.89	0.24026	N	0.199	0.21969	-0.7640	0.57187	T	0.301	0.67232	T	10	0.101062	0.18442	T	0.063842	0.69093	D	0.288	0.60691	0.587	0.71497	0.737229180969	0.73487	0.24206605948706808	0.24120	0.237480901641	0.26287	0.305860936642	0.11281	T	0.341896	0.71074	T	-0.36682	0.03758	T	-0.52802	0.19484	T	0.0260352868325205	0.01411	T	0.553945	0.19167	T	0.1605959	0.36012	0.08130203	0.18466	0.1605959	0.36011	0.08130203	0.18466	-3.464	0.15931	T	.	.	0.074	0.05188	B	.;.;.;.	.;.;.;.	1.234091	0.16293	12.44	0.9587021926359609	0.28046	0.69565	0.34238	D	AEFBHCIJ	0.670234	0.63739	D	-0.931400453559045	0.10114	0.481769	-0.882631929416239	0.12505	0.6436512	0.999625303795637	0.41093	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	6.17	-4.29	0.03465	-0.249000	0.08861	0.906000	0.22588	0.665000	0.62972	0.880000	0.30988	1.000000	0.68203	0.822000	0.38733	0.0:0.2944:0.2964:0.4092	7.089	0.24452	749	0.51929	.;Fibrinogen, alpha/beta/gamma chain, coiled coil domain|Fibrinogen, alpha/beta/gamma chain, coiled coil domain;Fibrinogen, alpha/beta/gamma chain, coiled coil domain|Fibrinogen, alpha/beta/gamma chain, coiled coil domain;Fibrinogen, alpha/beta/gamma chain, coiled coil domain|Fibrinogen, alpha/beta/gamma chain, 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	.	.	.	.	.	.	.	.	0.07143	1827.49	33	chr4	154612018	.	T	C	1827.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.182;DP=303;ExcessHet=0;FS=1.402;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.39;ReadPosRankSum=-0.383;SOR=0.835	GT:AD:DP:GQ:PL	0/1:57,70:127:99:1838,0,1373	6	0	1	0
chr4	158645088	158645088	A	T	exonic	RXFP1	.	nonsynonymous SNV	RXFP1:NM_001253729:exon13:c.A1151T:p.Y384F,RXFP1:NM_001253728:exon14:c.A1196T:p.Y399F,RXFP1:NM_001253730:exon14:c.A902T:p.Y301F,RXFP1:NM_001253727:exon15:c.A1376T:p.Y459F,RXFP1:NM_001253733:exon15:c.A827T:p.Y276F,RXFP1:NM_021634:exon15:c.A1295T:p.Y432F,RXFP1:NM_001253732:exon16:c.A899T:p.Y300F,RXFP1:NM_001363776:exon16:c.A1052T:p.Y351F	.	430	1051	39	2	0	43	0.0200466	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.187	.	0.0018	0.00379393	0.0024	0.0006	0.0022	0	0.0005	0.0024	0.0022	0.0060	0.0024579	380	154602	rs76517567	0.0028	0.0028	0.0026	0.0029	0.0087	0.0027	0.0027	0.0068	0.0061	0.0006	0.0015	0.0004	0	0.0004	0.0087	0.0028	0.0025	0.0066	0.0021	0.0021	0.0019	0.0022	0.0071	0.0019	0.0018	0.0052	0.0046	0.0005	0	0.0017	0	0	0.0004	0.0136	0.0033	0.0019	0.0071	0.678	0.04713	T	1.0	0.02471	T	0.0	0.07471	B	0.001	0.14941	B	0.000000	0.84330	D	0.055071	0.998881	0.45620	D	0.125	0.08623	N	1.27	0.36146	T	-0.14	0.10656	N	0.347	0.38950	-1.0780	0.07741	T	0.025	0.10777	T	10	0.00875029	0.00198	T	.	.	.	0.187	0.46274	.	.	0.42828666871	0.42450	0.4035505940782954	0.40271	0.134654301779	0.15172	0.440155625343	0.30598	T	0.003769	0.33668	T	-0.439762	0.01297	T	-0.401852	0.33168	T	0.0134647964104998	0.00245	T	0.885211	0.61002	D	0.17550364	0.38412	0.10294074	0.24686	0.17550364	0.38412	0.10294074	0.24686	-4.574	0.32134	T	.	.	0.088	0.13174	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.035924	0.25880	16.92	0.91066534062621174	0.20318	0.97637	0.76068	D	AEFDBI	0.862811	0.78119	D	-0.397811946846213	0.25546	1.387581	-0.132525958353084	0.34088	1.956928	0.999999948736557	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.76	4.57	0.55860	5.168000	0.64817	1.582000	0.27480	0.756000	0.94297	1.000000	0.71638	0.231000	0.23784	0.998000	0.85391	0.9314:0.0:0.0686:0.0	11.844	0.51644	927	0.17636	GPCR, rhodopsin-like, 7TM;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	0.005051	0.001359	0.005848	0.000000	0.000000	0.006135	0.003788	0.07143	2017.63	34	chr4	158645088	.	A	T	2017.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.62;DP=337;ExcessHet=0;FS=3.816;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.93;ReadPosRankSum=-0.307;SOR=0.998	GT:AD:DP:GQ:PL	0/1:74,82:156:99:2028,0,1582	6	0	1	0
chr4	168898669	168898669	G	A	exonic	PALLD	.	nonsynonymous SNV	PALLD:NM_001367567:exon4:c.G255A:p.M85I,PALLD:NM_001367569:exon4:c.G255A:p.M85I,PALLD:NM_001166110:exon5:c.G915A:p.M305I,PALLD:NM_001367568:exon5:c.G306A:p.M102I,PALLD:NM_001367570:exon5:c.G306A:p.M102I,PALLD:NM_001166109:exon12:c.G1230A:p.M410I,PALLD:NM_016081:exon13:c.G2376A:p.M792I,PALLD:NM_001166108:exon14:c.G2427A:p.M809I	.	.	.	.	.	.	.	.	.	.	.	1845107	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.201	0.0305366275154	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.841e-07	0	1.375e-06	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.399	0.21801	T	0.479	0.55759	T	.	.	.	.	.	.	0.001676	0.38326	U	0.000000	0.999973	0.81001	D	.	.	.	-0.62	0.71895	T	-1.59	0.56787	N	0.698	0.70263	-0.5390	0.67201	T	0.308	0.67867	T	10	0.359553	0.52621	T	0.030537	0.52827	D	0.201	0.48592	.	.	0.711221558017	0.70869	0.507454384894299	0.50667	0.790969623184	0.65777	0.635476946831	0.57922	T	0.084931	0.37388	T	0.0964953	0.63912	D	-0.0991676	0.63462	T	0.720881402492523	0.41743	D	0.822018	0.50309	T	.	.	.	.	.	.	.	.	-9.058	0.70411	D	.	.	0.834	0.80161	P	.;.;.;.;.;.	.;.;.;.;.;.	4.080126	0.60688	24.2	0.96356890166856102	0.29537	0.98354	0.81929	D	AEFBI	0.905065	0.85613	D	0.294826853967169	0.55886	3.752753	0.408467051562211	0.62091	4.418906	0.999999980908939	0.74766	0.706548	0.73137	0	0.588066	0.40923	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.55	5.55	0.83298	8.002000	0.88029	11.829000	0.97466	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.714000	0.34579	0.0:0.0:1.0:0.0	19.497	0.95071	949	0.11373	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;.;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|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	.	.	.	.	.	.	.	.	0.3	911.99	63	chr4	168898669	.	G	A	911.99	.	AC=3;AF=0.3;AN=10;BaseQRankSum=-2;DP=357;ExcessHet=1.383;FS=196.096;MLEAC=4;MLEAF=0.4;MQ=60;MQRankSum=0;QD=3.88;ReadPosRankSum=0.453;SOR=8.688	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:65,35:100:99:0|1:168898668_T_C:383,0,991:168898668	2	0	3	2
chr4	176711629	176711629	G	C	exonic	VEGFC	.	nonsynonymous SNV	VEGFC:NM_005429:exon4:c.C574G:p.L192V	Lymphedema, hereditary, ID, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.389	0.00457388535514	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.36233	T	0.018	0.17786	B	0.016	0.17743	B	0.000002	0.62929	D	0.060984	0.999978	0.53665	D	1.445	0.36358	L	.	.	.	.	.	.	0.211	0.23506	-0.9162	0.46063	T	0.201	0.55723	T	9	0.21782258	0.38406	T	0.004574	0.11283	T	.	.	0.338	0.32816	0.258283824007	0.25425	0.20722753188937795	0.20638	.	.	0.476231843233	0.35538	T	0.511562	0.82742	D	-0.225602	0.17235	T	-0.561838	0.16204	T	0.975354909896851	0.70898	D	0.818018	0.47523	T	0.68111783	0.77030	0.5560567	0.74322	0.68111783	0.77031	0.5560567	0.74323	-3.092	0.11205	T	.	.	0.149	0.32898	B	.	.	2.846774	0.37571	20.5	0.99481528693655874	0.66904	0.93293	0.57830	D	AEFDGBIJ	0.738481	0.68334	D	0.0495151208025927	0.44120	2.691901	0.265583808111138	0.53542	3.522512	0.999999999071338	0.74766	0.50712	0.20391	0	0.573888	0.26702	0	0.658983	0.55881	0	0.635259	0.50027	0	.	.	5.98	5.98	0.97147	4.780000	0.62075	7.388000	0.58495	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	20.437	0.99095	901	0.24189	PDGF/VEGF domain|PDGF/VEGF domain|PDGF/VEGF domain|PDGF/VEGF 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	.	.	.	.	.	.	.	.	0.1429	116.05	46	chr4	176711629	.	G	C	116.05	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-3.856;DP=319;ExcessHet=0.3476;FS=85.069;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=0.89;ReadPosRankSum=1.3;SOR=6.665	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:46,11:57:65:0|1:176711629_G_C:65,0,1552:176711629	5	0	2	0
chr4	176711631	176711631	G	C	exonic	VEGFC	.	nonsynonymous SNV	VEGFC:NM_005429:exon4:c.C572G:p.P191R	Lymphedema, hereditary, ID, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	1678376	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.573	0.0164080950575	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0079	0.0007	0.0006	0.0007	0.0006	0.0006	0.0007	0.0007	0.0004	0.0001	0.0006	0.0005	0.0003	0.0004	0.0007	0.0006	0.0001	0	1.318e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.004	0.74150	D	1.0	0.90584	D	0.988	0.77976	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.78	0.81115	M	.	.	.	.	.	.	0.909	0.91047	-0.3248	0.74287	T	0.394	0.74735	T	9	0.8736812	0.86647	D	0.016408	0.37653	T	.	.	0.546	0.66015	0.51627217869	0.51271	0.670927250296511	0.67030	.	.	0.735086381435	0.72250	T	0.838317	0.96206	D	0.453469	0.92634	D	0.414	0.92543	D	0.994541704654694	0.85897	D	0.888611	0.61875	D	0.8869157	0.90244	0.57547873	0.75406	0.8869157	0.90246	0.57547873	0.75407	-14.113	0.93418	D	.	.	0.912	0.83607	P	.	.	5.440469	0.90928	32	0.99696376373392925	0.80316	0.99228	0.93120	D	AEFDGBIJ	0.929678	0.91581	D	0.858986860426177	0.89613	10.04438	0.885812039272356	0.94923	13.15767	1.0	0.98316	0.50712	0.20391	0	0.573888	0.26702	0	0.658983	0.55881	0	0.635259	0.50027	0	.	.	5.98	5.98	0.97147	9.591000	0.97403	11.818000	0.97148	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	20.437	0.99095	901	0.24189	PDGF/VEGF domain|PDGF/VEGF domain|PDGF/VEGF domain|PDGF/VEGF 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	.	.	.	.	.	.	.	.	0.2	120.39	46	chr4	176711631	.	G	C	120.39	.	AC=2;AF=0.2;AN=10;BaseQRankSum=0.654;DP=305;ExcessHet=0.4139;FS=108.968;MLEAC=3;MLEAF=0.3;MQ=60;MQRankSum=0;QD=0.92;ReadPosRankSum=1.1;SOR=7.222	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:46,11:57:65:0|1:176711629_G_C:65,0,1552:176711629	3	0	2	2
chr4	189953101	189953101	C	T	exonic	FRG1	.	nonsynonymous SNV	FRG1:NM_004477:exon4:c.C293T:p.T98M	.	169	1019	334	0	0	334	0.140809	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.267	.	.	.	0.4080	0.3423	0.3991	0.3531	0.3948	0.4099	0.4323	0.4613	0.0003816	59	154602	rs201275486	7.611e-05	0.0007	8.045e-05	7.169e-05	0.0003	6.427e-05	5.97e-05	0.0002	0.0002	6.318e-05	0.0003	0.0001	2.682e-05	0.0001	0.0003	5.437e-05	5.221e-05	0.0003	7.555e-05	0.0010	4.012e-05	0.0001	5.02e-05	4.146e-05	3.255e-05	8.32e-06	3.11e-06	5.02e-05	0	0	0	0	0.0007	0	3.052e-05	0	0	0.04	0.42199	D	0.067	0.44302	T	0.952	0.54136	P	0.4	0.44481	B	0.000001	0.84330	D	0.093692	1	0.81001	D	.	.	.	1.78	0.52642	T	-4.29	0.76414	D	0.333	0.37405	-0.8920	0.48758	T	0.126	0.43174	T	9	0.005040586	0.00109	T	.	.	.	0.267	0.58126	.	.	.	.	0.7086331413770478	0.70805	0.761265370882	0.64277	0.643288969994	0.59033	T	0.592736	0.86832	D	0.145454	0.68842	D	-0.0288412	0.68446	D	0.0610726985776521	0.07336	T	.	.	.	0.11254749	0.26589	0.23484966	0.48713	0.11254749	0.26589	0.23484966	0.48712	-9.66	0.71851	D	.	.	0.172	0.47039	B	.;.	.;.	3.588897	0.50628	23.0	0.99818926167319089	0.90238	0.93303	0.57857	D	AEFBI	0.649950	0.62423	D	0.332693509411821	0.57835	3.952406	0.333491443171521	0.57519	3.917869	0.999999999185946	0.74766	0.732398	0.92422	0	0.644132	0.57912	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	3.71	3.71	0.41733	4.481000	0.59983	3.605000	0.39235	-0.252000	0.07121	1.000000	0.71638	0.999000	0.35428	0.157000	0.20547	0.0:1.0:0.0:0.0	13.859	0.63048	991	0.01385	.;.	.	.	.	.	.	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	0.269832	0.442623	0.240437	0.270270	0.285714	0.236842	0.255725	0.272727	0.2143	170.44	6	chr4	189953101	.	C	T	170.44	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-0.495;DP=60;ExcessHet=1.1394;FS=0;MLEAC=3;MLEAF=0.214;MQ=51.64;MQRankSum=-2.141;QD=6.09;ReadPosRankSum=1.47;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:10,2:12:54:0|1:189953101_C_T:54,0,403:189953101	4	0	3	0
chr4	189953126	189953126	G	T	splicing	FRG1	NM_004477:exon4:c.317+1G>T	.	.	.	183	1055	284	0	0	284	0.11863	1.0000	0.936	.	794301	CIC-rearranged_sarcoma	MONDO:MONDO:0956989,MedGen:C3899764	no_classification_provided	not_provided	.	.	.	.	.	.	.	.	.	.	.	.	0.0016	0.0032	0.0014	0.0010	0.0009	0.0020	0	0.0006	0.0001153	3	26028	rs770433406	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.281809	0.81469	D	0.167022	0.81231	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	5.592813	0.92394	32	0.99300431696382707	0.58613	0.97908	0.78038	D	AEFBI	.	.	.	1.05490941371048	0.97203	15.74775	0.843458885629421	0.92630	11.53725	0.999999998414614	0.74766	0.258101	0.04556	0	0.375	0.05954	0	0.083675	0.02720	0	0.109871	0.03346	0	0.829964	0.49773	3.53	3.53	0.39533	8.827000	0.91663	11.037000	0.85129	0.601000	0.45875	1.000000	0.71638	1.000000	0.68203	0.327000	0.25133	0.0:0.0:1.0:0.0	13.458	0.60660	991	0.01385	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.2143	183.18	5	chr4	189953126	.	G	T	183.18	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-0.524;DP=52;ExcessHet=1.1394;FS=0;MLEAC=3;MLEAF=0.214;MQ=49.72;MQRankSum=-2.1;QD=7.63;ReadPosRankSum=-0.524;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:9,2:11:57:0|1:189953101_C_T:57,0,372:189953101	4	0	3	0
chr5	192358	192358	G	C	exonic	LRRC14B	.	nonsynonymous SNV	LRRC14B:NM_001080478:exon1:c.G820C:p.E274Q	.	424	971	119	8	0	135	0.0649976	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	.	0.0031	0.0139776	0.0197	0.0027	0.0040	0	0.0015	0.0100	0.0147	0.0833	0.0091849	1420	154602	rs151096925	0.0083	0.0083	0.0066	0.0099	0.0566	0.0082	0.0081	0.0552	0.0547	0.0012	0.0024	0.0056	0.0001	0.0010	0.0310	0.0056	0.0090	0.0566	0.0056	0.0057	0.0048	0.0066	0.0590	0.0053	0.0052	0.0534	0.0512	0.0013	0	0.0042	0.0049	0.0012	0.0008	0.0136	0.0059	0.0095	0.0590	0.37	0.11550	T	0.44	0.13328	T	0.1	0.25713	B	0.035	0.22741	B	0.058988	0.22358	N	0.518188	0.976539	0.25368	N	2.3	0.65703	M	0.66	0.52416	T	0.7	0.02163	N	0.089	0.06720	-0.9792	0.35186	T	0.052	0.21921	T	10	0.002982378	0.00048	T	.	.	.	0.141	0.37795	.	.	.	.	0.33562876739353953	0.33475	0.235035843099	0.26031	0.359056323767	0.19249	T	0.001039	0.00564	T	-0.589253	0.00169	T	-0.578971	0.14636	T	0.0153130589139103	0.00339	T	0.70293	0.31283	T	0.06743472	0.14603	0.0495207	0.07586	0.06743472	0.14603	0.0495207	0.07585	-2.78	0.08000	T	.	.	0.103	0.18539	B	.	.	1.638414	0.20912	14.97	0.70957301943639306	0.09467	0.68563	0.33850	D	AEFDGBCI	0.192734	0.31988	N	-0.330350993789796	0.28000	1.540847	-0.176249790140483	0.32412	1.843757	0.999992054264738	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	5.33	4.34	0.51267	3.683000	0.54396	6.321000	0.55444	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.362000	0.25931	0.1424:0.2363:0.6213:0.0	4.376	0.10705	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	0.015657	0.000000	0.012262	0.000000	0.000000	0.008621	0.030864	0.045802	0.07143	1886.44	35	chr5	192358	.	G	C	1886.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.56;DP=366;ExcessHet=0;FS=1.245;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.5;ReadPosRankSum=-1.187;SOR=0.81	GT:AD:DP:GQ:PL	0/1:88,76:164:99:1897,0,2051	6	0	1	0
chr5	236504	236504	T	C	exonic	SDHA	.	nonsynonymous SNV	SDHA:NM_001294332:exon9:c.T1193C:p.V398A,SDHA:NM_001330758:exon10:c.T1337C:p.V446A,SDHA:NM_004168:exon10:c.T1337C:p.V446A	Cardiomyopathy, dilated, 1GG;Leigh syndrome, Autosomal recessive, Mitochondrial;Mitochondrial respiratory chain complex II deficiency, Autosomal recessive;Paragangliomas 5, Autosomal dominant	0	1415	107	0	0	107	0.0364317	.	.	YES	1685197	Pulmonary_artery_atresia|Hereditary_cancer-predisposing_syndrome|Paragangliomas_5|Neurodegeneration_with_ataxia_and_late-onset_optic_atrophy|Mitochondrial_complex_II_deficiency,_nuclear_type_1|Dilated_cardiomyopathy_1GG	Human_Phenotype_Ontology:HP:0004935,MedGen:C0265908|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072|MONDO:MONDO:0031006,MedGen:C5543254,OMIM:619259|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011,Orphanet:3208|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642,Orphanet:154	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.760	0.184775381618	.	.	9.889e-05	9.625e-05	0	0	0	0.0002	0	0	0.0001164	18	154602	rs201741295	2.059e-06	0.0011	0	4.141e-06	2.991e-05	5.5e-07	1.5e-07	.	.	2.991e-05	0	0	0	1.878e-05	0	9.019e-07	0	0	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.013	0.53900	D	0.005	0.72224	D	0.99	0.63424	D	0.909	0.64565	D	0.000109	0.50451	U	0.079100	1	0.81001	D	3.045	0.86684	M	-0.69	0.72678	T	-3.71	0.70674	D	0.605	0.65501	0.300	0.87565	D	0.577	0.84734	D	10	0.8255681	0.81738	D	0.184775	0.85771	D	0.760	0.91837	.	.	0.877245150884	0.87604	0.9245805198306615	0.92435	1.43342670029	0.85851	0.776162147522	0.78349	T	0.48089	0.82175	T	0.346948	0.86301	D	0.260591	0.86122	D	0.977276384830475	0.71767	D	0.756924	0.38041	T	0.79741704	0.83741	0.61894715	0.77809	0.79741704	0.83742	0.61894715	0.77809	-10.828	0.79062	D	0.4833891528602471	0.56162	0.972	0.92208	P	.;.;.;.	.;.;.;.	4.072770	0.60521	24.2	0.99699264171042234	0.80522	0.98006	0.78815	D	AEFBI	0.826800	0.74621	D	0.617996920376637	0.74313	6.111484	0.515888237046089	0.69056	5.306516	0.999969461029374	0.48965	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.01	5.01	0.66477	5.979000	0.70194	7.814000	0.69527	-0.125000	0.13442	1.000000	0.71638	1.000000	0.68203	0.045000	0.14751	0.0:0.0:0.0:1.0	12.955	0.57820	840	0.37365	FAD-dependent oxidoreductase 2, FAD binding domain;FAD-dependent oxidoreductase 2, FAD binding domain;FAD-dependent oxidoreductase 2, FAD binding 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	242.44	36	chr5	236504	.	T	C	242.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.339;DP=356;ExcessHet=0;FS=1;MLEAC=1;MLEAF=0.071;MQ=57.62;MQRankSum=-11.75;QD=1.56;ReadPosRankSum=-2.283;SOR=0.525	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:139,16:155:99:0|1:236502_G_T:253,0,5768:236502	6	0	1	0
chr5	236513	236513	C	T	exonic	SDHA	.	nonsynonymous SNV	SDHA:NM_001294332:exon9:c.C1202T:p.A401V,SDHA:NM_001330758:exon10:c.C1346T:p.A449V,SDHA:NM_004168:exon10:c.C1346T:p.A449V	Cardiomyopathy, dilated, 1GG;Leigh syndrome, Autosomal recessive, Mitochondrial;Mitochondrial respiratory chain complex II deficiency, Autosomal recessive;Paragangliomas 5, Autosomal dominant	0	1405	117	0	0	117	0.0399727	.	.	.	539257	Hereditary_cancer-predisposing_syndrome|Dilated_cardiomyopathy_1GG|not_provided|Paragangliomas_5|Pulmonary_artery_atresia	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642,Orphanet:154|MedGen:C3661900|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072|Human_Phenotype_Ontology:HP:0004935,MedGen:C0265908	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.416	0.458733665052	.	0.00179712	9.89e-05	9.619e-05	0	0	0	0.0002	0	0	0.0001746	27	154602	rs201139275	5.507e-06	0.0017	2.738e-06	8.307e-06	0.0002	2.37e-06	1.71e-06	7.2e-07	2e-07	2.996e-05	0	0	0	5.64e-05	0.0002	2.715e-06	0	0	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.013	0.64786	D	0.99	0.63424	D	0.585	0.50320	P	0.000265	0.46590	U	0.142014	1	0.81001	D	5.24	0.99965	H	-0.53	0.70833	T	-3.66	0.70067	D	0.748	0.74918	0.907	0.95770	D	0.762	0.91911	D	10	0.8196605	0.81179	D	0.458734	0.94474	D	0.699	0.89145	.	.	0.826059350657	0.82441	0.9492272012192984	0.94905	0.97409143716	0.73497	0.716711103916	0.69567	T	0.531492	0.83795	D	0.371442	0.88153	D	0.295774	0.88003	D	0.998724400997162	0.94977	D	0.872113	0.57861	D	0.9627981	0.97560	0.8899889	0.94266	0.9627981	0.97560	0.8899889	0.94266	-16.024	0.97797	D	0.9231894733639014	0.96700	0.996	0.96661	P	.;.;.;.	.;.;.;.	3.977713	0.58453	24.0	0.99927253316716125	0.99163	0.96878	0.71431	D	AEFBI	0.862645	0.78097	D	0.643185451586592	0.75929	6.393532	0.534785209024911	0.70347	5.491716	0.999999917444827	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	4.9	4.9	0.63643	5.874000	0.69399	7.567000	0.60617	-0.191000	0.09375	1.000000	0.71638	1.000000	0.68203	0.089000	0.17737	0.0:1.0:0.0:0.0	15.909	0.79242	840	0.37365	FAD-dependent oxidoreductase 2, FAD binding domain;FAD-dependent oxidoreductase 2, FAD binding domain;FAD-dependent oxidoreductase 2, FAD binding 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	215.44	36	chr5	236513	.	C	T	215.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.01;DP=367;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=57.76;MQRankSum=-12.09;QD=1.31;ReadPosRankSum=-1.034;SOR=0.592	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:148,16:164:99:0|1:236502_G_T:226,0,5978:236502	6	0	1	0
chr5	5303675	5303675	C	T	exonic	ADAMTS16	.	nonsynonymous SNV	ADAMTS16:NM_139056:exon20:c.C3095T:p.S1032F	.	414	1097	11	0	0	11	0.00498866	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109	0.0208074568969	0.0013	0.000798722	0.0015	0.0004	0.0010	0	0	0.0021	0.0034	0.0015	0.0014424	223	154602	rs199747658	0.0018	0.0018	0.0017	0.0018	0.0041	0.0017	0.0017	0.0028	0.0024	0.0003	0.0018	0.0060	0	0.0001	0.0041	0.0019	0.0017	0.0014	0.0015	0.0015	0.0014	0.0017	0.0022	0.0014	0.0013	0.0019	0.0018	0.0003	0	0.0021	0.0069	0	9.411e-05	0.0034	0.0022	0.0019	0.0015	0.043	0.41364	D	0.141	0.33442	T	0.772	0.43974	P	0.272	0.39956	B	0.141440	0.18277	N	0.524541	1	0.08975	N	1.935	0.51832	L	0.11	0.61208	T	-2.79	0.59059	D	0.336	0.37717	-0.9103	0.46818	T	0.180	0.52660	T	10	0.008168191	0.00185	T	0.020807	0.43476	T	0.109	0.30843	.	.	0.767170172808	0.76504	0.2622987662833187	0.26142	0.203965002394	0.22808	0.353959918022	0.18503	T	0.031685	0.22152	T	-0.482842	0.00712	T	-0.472204	0.25279	T	0.0268254973427421	0.01519	T	0.708229	0.31875	T	0.09972423	0.23538	0.11151939	0.26901	0.09972423	0.23537	0.11151939	0.26900	-7.034	0.54281	T	.	.	0.113	0.22282	B	.	.	1.495125	0.19227	14.16	0.98633289930940538	0.43947	0.04045	0.09488	N	AEFDBI	0.067223	0.13204	N	-0.434969627096241	0.24253	1.308225	-0.57533328801523	0.20136	1.083567	0.999979530405175	0.50053	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	4.79	3.0	0.33773	-0.508000	0.06426	-0.043000	0.12644	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.8711:0.0:0.1289	10.455	0.43732	970	0.06235	.	.	.	.	.	.	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	0.003525	0.000000	0.004076	0.000000	0.000000	0.000000	0.015244	0.000000	0.07143	1767.49	36	chr5	5303675	.	C	T	1767.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.166;DP=312;ExcessHet=0;FS=2.471;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.78;ReadPosRankSum=-0.31;SOR=0.949	GT:AD:DP:GQ:PL	0/1:44,68:112:99:1778,0,1101	6	0	1	0
chr5	17655397	17655397	C	G	exonic	H3Y1	.	nonsynonymous SNV	H3Y1:NM_001355258:exon1:c.G142C:p.A48P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs572658907	0.0002	0.0002	0.0002	0.0002	0.0023	0.0002	0.0001	0.0013	0.0011	0	0.0001	0	4.357e-05	0	0.0015	0.0002	0.0002	0.0023	0.0002	0.0002	0.0002	0.0002	0.0012	0.0001	9.7e-05	0.0005	0.0004	2.41e-05	0	6.534e-05	0	0	0	0	0.0002	0.0005	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34645486	0.51599	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.963004	0.86214	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.657	0.71201	P	.	.	2.523360	0.32609	19.09	0.67576837975971349	0.08396	0.81861	0.41182	D	AEFDGHI	.	.	.	.	.	.	.	.	.	0.99986515839514	0.44398	0.090951	0.02408	1	0.063388	0.01293	0	0.048193	0.00230	0	0.057018	0.00518	0	0.648151	0.41722	0.565	0.565	0.16493	5.680000	0.67831	0.615000	0.20071	0.565000	0.28586	1.000000	0.71638	0.188000	0.23474	0.001000	0.02609	0.0:0.9999:0.0:1.0E-4	6.942	0.23675	986	0.02773	Histone H2A/H2B/H3	.	.	.	.	.	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	194.33	7	chr5	17655397	.	C	G	194.33	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.379;DP=52;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.19;ReadPosRankSum=-1.543;SOR=0.495	GT:AD:DP:GQ:PL	0/1:3,9:12:54:204,0,54	5	0	1	1
chr5	34945802	34945802	A	G	exonic	DNAJC21	.	nonsynonymous SNV	DNAJC21:NM_001012339:exon9:c.A1184G:p.Q395R,DNAJC21:NM_001348420:exon9:c.A1223G:p.Q408R,DNAJC21:NM_194283:exon9:c.A1184G:p.Q395R	Bone marrow failure syndrome 3, Autosomal recessive	.	.	.	.	.	.	.	0.9652	0.688	.	1367505	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.040	0.0172814356619	.	.	4.162e-05	9.966e-05	0	0	0	0	0	0.0002	3.23e-05	5	154602	rs147371433	1.68e-05	2.121e-05	9.753e-06	2.392e-05	0.0002	1.137e-05	9.55e-06	3.183e-05	2.161e-05	0	5.391e-05	0	0	0	0.0002	1.092e-05	5.097e-05	7.482e-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	0.327	0.33585	T	0.537	0.10857	T	0.183	0.39849	B	0.039	0.35463	B	0.001461	0.38917	N	0.328937	0.901002	0.27700	N	2.44	0.70756	M	0.95	0.43672	T	-1.27	0.31981	N	0.295	0.33796	-0.9942	0.31512	T	0.095	0.35818	T	10	0.110030234	0.20549	T	0.017281	0.38914	T	0.040	0.10527	0.198	0.11110	0.37568098594	0.37176	0.04510782210456495	0.04454	0.0656204271622	0.07319	0.422485202551	0.28178	T	0.03599	0.23931	T	-0.322519	0.06693	T	-0.421618	0.30890	T	0.11192549020052	0.13621	T	0.39666	0.10241	T	0.09619939	0.22654	0.07737239	0.17230	0.09619939	0.22653	0.07737239	0.17229	-4.962	0.36425	T	.	.	0.077	0.12607	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.138890	0.42441	21.5	0.97522905041611641	0.34416	0.85695	0.44856	D	AEFBI	0.260544	0.37867	N	0.104542343337294	0.46675	2.904228	0.21031313931907	0.50420	3.234136	0.998358129652314	0.36814	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.63	4.41	0.52588	1.800000	0.38469	4.981000	0.46462	0.756000	0.94297	0.976000	0.34826	1.000000	0.68203	0.929000	0.46594	0.8518:0.1482:0.0:0.0	11.565	0.50054	545	0.72614	.;.;.;.;.;.;.	.	.	.	.	.	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	0.000000	0.002924	0.050000	0.000000	0.000000	0.000000	0.08333	662.27	36	chr5	34945802	.	A	G	662.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.311;DP=234;ExcessHet=0;FS=0.903;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.07;ReadPosRankSum=1.43;SOR=0.502	GT:AD:DP:GQ:PL	0/1:40,33:73:99:672,0,1087	5	0	1	1
chr5	41909782	41909782	C	A	exonic	C5orf51	.	nonsynonymous SNV	C5orf51:NM_175921:exon3:c.C244A:p.L82I	.	531	979	10	2	0	14	0.00709939	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.283	.	0.0041	0.00339457	0.0040	0.0013	0.0030	0	0.0014	0.0056	0.0068	0.0029	0.0039068	604	154602	rs142045369	0.0055	0.0056	0.0055	0.0055	0.0132	0.0054	0.0053	0.0107	0.0098	0.0010	0.0032	0.0027	2.637e-05	0.0014	0.0132	0.0062	0.0072	0.0033	0.0041	0.0041	0.0042	0.0040	0.0064	0.0038	0.0037	0.0059	0.0057	0.0012	0.0022	0.0057	0.0017	0	0.0007	0	0.0064	0.0088	0.0034	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.996	0.84481	D	0.000001	0.84330	D	0.000000	0.999628	0.47904	D	2.25	0.63811	M	1.34	0.34841	T	-1.71	0.40660	N	0.719	0.72120	-0.9963	0.30946	T	0.101	0.37518	T	10	0.007929176	0.00180	T	.	.	.	0.283	0.60100	.	.	0.547083200336	0.54363	0.23809063725820026	0.23723	0.606290883428	0.55480	.	.	.	0.189067	0.54693	T	-0.274806	0.11227	T	-0.16379	0.58008	T	0.024932640072346	0.01264	T	0.879912	0.59649	D	0.5726996	0.71208	0.49994475	0.71089	0.5726996	0.71209	0.49994475	0.71090	-4.605	0.32234	T	.	.	0.742	0.74727	P	.;.	.;.	3.557139	0.50028	22.9	0.99489200100070396	0.67347	0.94387	0.61003	D	AEFBI	0.441208	0.49945	N	0.375621841986789	0.60102	4.195765	0.35053941705062	0.58539	4.025125	0.999961389151402	0.48965	0.651	0.46895	0	0.708844	0.79440	0	0.65145	0.50148	0	0.683762	0.67416	0	.	.	5.18	3.4	0.38031	2.900000	0.48386	1.789000	0.28782	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.8442:0.0:0.1558	10.143	0.41921	412	0.82007	.;.	.	.	.	.	.	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	0.014127	0.005155	0.010870	0.043860	0.000000	0.017241	0.015244	0.011364	0.08333	505.27	24	chr5	41909782	.	C	A	505.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.826;DP=214;ExcessHet=0;FS=4.055;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.31;ReadPosRankSum=-0.08;SOR=0.439	GT:AD:DP:GQ:PL	0/1:24,25:49:99:515,0,645	5	0	1	1
chr5	79044510	79044510	T	C	exonic	DMGDH	.	nonsynonymous SNV	DMGDH:NM_013391:exon6:c.A788G:p.H263R	Dimethylglycine dehydrogenase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.620	0.0499483824762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.134	0.26300	T	0.228	0.25286	T	0.648	0.40583	P	0.172	0.35394	B	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	2.175	0.60977	M	-1.44	0.80815	T	-1.42	0.34992	N	0.804	0.79986	-0.1303	0.79394	T	0.367	0.72712	T	10	0.64481616	0.69264	D	0.049948	0.64031	D	0.620	0.85249	0.601	0.73226	0.827341243144	0.82571	0.8269855015519543	0.82656	0.611311684803	0.55774	0.558233141899	0.47018	T	0.028244	0.20504	T	0.334612	0.85475	D	0.24287	0.85283	D	0.968468606472015	0.68253	D	0.921908	0.71628	D	0.86606336	0.88552	0.6559207	0.79854	0.86606336	0.88554	0.6559207	0.79855	-8.651	0.65424	D	0.4151006917709649	0.50477	0.852	0.79850	P	.;.	.;.	3.747857	0.53700	23.4	0.99775390252736462	0.86260	0.99126	0.91608	D	AEFBI	0.956026	0.97429	D	0.228138784264105	0.52565	3.430038	0.367314525288217	0.59556	4.134629	0.999998532021457	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.29	5.29	0.74430	7.857000	0.85305	7.860000	0.71395	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.569	0.76062	624	0.65661	FAD dependent oxidoreductase;FAD dependent oxidoreductase	.	.	.	.	.	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	95.79	45	chr5	79044510	.	T	C	95.79	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.253;DP=388;ExcessHet=0.3476;FS=37.345;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=1.01;ReadPosRankSum=2;SOR=5.384	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:76,14:90:28:.:.:28,0,1982:.	4	0	2	1
chr5	79236784	79236784	C	G	exonic	JMY	.	nonsynonymous SNV	JMY:NM_152405:exon1:c.C134G:p.T45S	.	413	1108	1	0	0	1	0.00045106	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.216	0.17284198799	.	0.000199681	0.0005	0	0	0	0	0.0007	0	0.0004	0.00011	17	154602	rs528007143	0.0011	0.0010	0.0011	0.0010	0.0012	0.0010	0.0010	0.0012	0.0012	0.0002	0.0001	0	0	0.0005	0.0002	0.0012	0.0012	0.0005	0.0006	0.0006	0.0007	0.0005	0.0011	0.0005	0.0004	0.0009	0.0008	7.222e-05	0	0.0002	0	0	0.0006	0	0.0011	0	0.0004	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.994	0.82059	D	0.000003	0.62929	U	0.000000	0.999784	0.49076	D	1.04	0.26193	L	2.29	0.17113	T	-1.89	0.44094	N	0.662	0.67132	-0.8951	0.48474	T	0.119	0.41648	T	10	0.22702017	0.39571	T	0.172842	0.84970	D	0.216	0.50959	0.349	0.34598	0.307279486299	0.30330	0.4490197405851087	0.44819	.	.	0.843016862869	0.88554	D	0.046	0.27322	T	-0.265518	0.12261	T	-0.204615	0.54208	T	0.190401002764702	0.19868	T	0.90251	0.65969	D	0.74037284	0.80314	0.8605077	0.92214	0.74037284	0.80315	0.8605077	0.92214	-6.496	0.50255	T	.	.	0.976	0.90377	P	.	.	4.454149	0.69265	25.4	0.99577638640890231	0.72802	0.86443	0.45724	D	AEFDBHCI	0.694303	0.65335	D	0.657582406259633	0.76862	6.564988	0.577656276969359	0.73342	5.954668	0.999999999999978	0.74766	0.242642	0.04205	2	0.218748	0.04544	0	0.391439	0.06340	0	0.492483	0.08430	1	.	.	3.81	3.81	0.43020	6.745000	0.74658	7.229000	0.57868	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	15.655	0.76879	813	0.42397	JMY/WHAMM, 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	0.002564	0.006579	0.000000	0.000000	0.083333	0.000000	0.000000	0.000000	0.07143	869.63	36	chr5	79236784	.	C	G	869.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.667;DP=263;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.35;ReadPosRankSum=-0.68;SOR=0.708	GT:AD:DP:GQ:PL	0/1:43,41:84:99:880,0,980	6	0	1	0
chr5	79689956	79689956	G	A	exonic	CMYA5	.	nonsynonymous SNV	CMYA5:NM_153610:exon1:c.G49A:p.D17N	.	375	1142	5	0	0	5	0.00218436	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.139	0.127644490234	.	.	0.0003	0	0	0	0	0	0	0.0006	2.59e-05	4	154602	rs761618368	7.123e-05	7.123e-05	3.737e-05	0.0001	0.0008	5.74e-05	5.264e-05	0.0007	0.0006	0	0	0	0	0	0	7.085e-06	0.0002	0.0008	2.626e-05	2.625e-05	0	5.37e-05	0.0008	8.14e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0	0	0	0	0	0.0008	0.018	0.50676	D	0.319	0.19188	T	0.982	0.60036	D	0.435	0.45529	B	0.131263	0.02810	U	2.104830	1	0.08975	N	0.55	0.14455	N	1.02	0.40749	T	-1.09	0.28290	N	0.104	0.08786	-0.8926	0.48705	T	0.094	0.35604	T	10	0.06775409	0.09487	T	0.127644	0.80948	D	0.139	0.37390	0.173	0.07894	0.227934060464	0.22382	0.05577750943846046	0.05518	0.0565549676772	0.06250	0.532340764999	0.43365	T	0.021075	0.16480	T	-0.573311	0.00211	T	-0.704921	0.05560	T	0.0727364355088542	0.09029	T	0.517048	0.16713	T	0.12832074	0.30003	0.09347902	0.22081	0.12832074	0.30003	0.09347902	0.22080	-5.093	0.37834	T	.	.	0.127	0.26947	B	.	.	2.897989	0.38398	20.7	0.99030357451356354	0.50786	0.29689	0.23888	N	AEFDBHCI	0.127895	0.24545	N	-0.172806868777968	0.34271	1.954057	-0.238347061041192	0.30175	1.696727	0.999999999970886	0.74766	0.56387	0.32371	0	0.514364	0.08380	0	0.503968	0.08637	0	0.554799	0.18163	0	.	.	3.77	3.77	0.42499	2.009000	0.40523	4.864000	0.45499	0.580000	0.29708	0.111000	0.23011	1.000000	0.68203	0.399000	0.26759	0.0:0.0:1.0:0.0	12.787	0.56894	589	0.68969	.	.	.	.	.	.	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	308.28	12	chr5	79689956	.	G	A	308.28	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.604;DP=93;ExcessHet=0;FS=17.194;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.4;ReadPosRankSum=0.9;SOR=0.011	GT:AD:DP:GQ:PL	0/1:10,13:23:99:318,0,272	5	0	1	1
chr5	80654889	80654889	T	0	exonic	MSH3	.	.	.	Endometrial carcinoma, somatic;Familial adenomatous polyposis 4, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	138.26	14	chr5	80654889	.	T	*	138.26	.	AC=3;AF=0.214;AN=14;DP=272;ExcessHet=0.0921;FS=5.576;MLEAC=3;MLEAF=0.214;MQ=60;QD=1.06;SOR=1.179	GT:AD:DP:GQ:PL	0/1:31,35:66:99:1209,0,1103	4	0	3	0
chr5	81440630	81440630	T	C	exonic	SSBP2	.	nonsynonymous SNV	SSBP2:NM_001256733:exon13:c.A796G:p.M266V,SSBP2:NM_001256734:exon13:c.A790G:p.M264V,SSBP2:NM_001256735:exon13:c.A766G:p.M256V,SSBP2:NM_001256736:exon13:c.A766G:p.M256V,SSBP2:NM_001256732:exon14:c.A880G:p.M294V,SSBP2:NM_001345886:exon14:c.A880G:p.M294V,SSBP2:NM_012446:exon14:c.A856G:p.M286V	.	432	1083	7	0	0	7	0.00322135	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.190	0.00716978810402	0.0015	0.000998403	0.0018	0.0005	0.0009	0	0.0008	0.0029	0.0022	0.0003	0.0017852	276	154602	rs139911197	0.0022	0.0022	0.0022	0.0022	0.0039	0.0021	0.0021	0.0026	0.0023	0.0002	0.0009	0.0088	0	0.0008	0.0039	0.0024	0.0027	0.0004	0.0018	0.0018	0.0018	0.0017	0.0028	0.0016	0.0015	0.0025	0.0024	0.0005	0	0.0014	0.0063	0	0.0007	0	0.0028	0.0028	0.0004	0.003	0.72154	D	0.694	0.24264	T	0.038	0.21002	B	0.374	0.43683	B	0.000000	0.84330	D	0.038157	0.999964	0.52935	D	2.215	0.62545	M	.	.	.	-2.84	0.60507	D	0.377	0.53796	-0.5432	0.67043	T	0.348	0.71281	T	9	0.010237962	0.00229	T	0.00717	0.19006	T	0.190	0.46781	.	.	0.342376198884	0.33841	0.7583331352599543	0.75781	1.09336094306	0.77502	0.630092024803	0.57158	T	0.318034	0.68944	T	-0.0837178	0.39107	T	0.102042	0.77043	D	0.040646097906275	0.03807	T	0.910909	0.68443	D	0.52929866	0.68791	0.6070777	0.77154	0.52929866	0.68792	0.6070777	0.77155	-6.718	0.57596	T	.	.	0.079	0.13876	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.566463	0.50211	22.9	0.96143264158919151	0.28841	0.97791	0.77159	D	AEFI	0.530644	0.55125	D	0.043948066053869	0.43863	2.671156	0.195078645347304	0.49578	3.159186	0.991818269872245	0.32618	0.732398	0.92422	0	0.743671	0.97443	0	0.659464	0.59346	0	0.668105	0.65232	0	.	.	5.64	5.64	0.86480	3.501000	0.53085	6.174000	0.54533	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.509	0.75502	725	0.54935	.;.;.;.;.;.;.;.	.	.	.	.	.	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	0.001359	0.011696	0.000000	0.017241	0.000000	0.000000	0.1429	1269.65	27	chr5	81440630	.	T	C	1269.65	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.709;DP=232;ExcessHet=0.3476;FS=2.511;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=11.87;ReadPosRankSum=3.01;SOR=0.488	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:18,23:41:99:1|0:81440625_A_G:565,0,687:81440625	5	0	2	0
chr5	96803404	96803404	T	A	exonic	ERAP1	.	nonsynonymous SNV	ERAP1:NM_001040458:exon2:c.A523T:p.R175W,ERAP1:NM_001198541:exon2:c.A523T:p.R175W,ERAP1:NM_001349244:exon2:c.A523T:p.R175W,ERAP1:NM_016442:exon2:c.A523T:p.R175W	.	423	1096	2	1	0	4	0.00182149	0.9999	0.996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.484	0.053377703624	0.0003	0.000199681	0.0003	0	0.0003	0	0	0.0003	0.0022	0.0002	0.0002458	38	154602	rs141992697	0.0002	0.0002	0.0002	0.0002	0.0019	0.0002	0.0001	0.0011	0.0008	0	0.0005	3.83e-05	0	0	0.0019	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	9.401e-05	0.0005	0.0001	8.714e-05	0.0003	0.0002	0	0	0.0005	0	0	0	0	0.0002	0.0005	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	0.043621	0.999968	0.52935	D	4.2	0.97819	H	4.11	0.02916	T	-6.89	0.93257	D	0.891	0.89353	-0.9425	0.42218	T	0.064	0.26667	T	10	0.831851	0.82347	D	0.053378	0.65443	D	0.484	0.77335	.	.	0.519837540645	0.51628	0.8352326849003059	0.83483	0.441369322318	0.44128	0.591365098953	0.51687	T	0.286168	0.65895	T	-0.0355551	0.46608	T	0.0651848	0.74589	D	0.840968370437622	0.49406	D	0.977602	0.92086	D	0.90760595	0.92073	0.8910111	0.94338	0.90760595	0.92074	0.8910111	0.94339	-11.877	0.84246	D	.	.	0.334	0.55521	B	.;.	.;.	6.023696	0.94370	34	0.99913748408846248	0.98238	0.98233	0.80775	D	AEFBI	0.705801	0.66107	D	0.802214594910289	0.86242	8.823533	0.701037469273887	0.82458	7.771817	0.999999972727965	0.74766	0.706548	0.73137	0	0.662677	0.63036	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.51	5.51	0.81769	3.971000	0.56538	7.921000	0.74526	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.933000	0.47100	0.0:0.0:0.0:1.0	15.284	0.73515	890	0.26919	.;.	.	.	.	.	.	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	0.005035	0.000000	0.009511	0.005848	0.000000	0.000000	0.003049	0.000000	0.08333	472.27	33	chr5	96803404	.	T	A	472.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.074;DP=210;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.24;ReadPosRankSum=-1.512;SOR=0.874	GT:AD:DP:GQ:PL	0/1:20,22:42:99:482,0,430	5	0	1	1
chr5	111120579	111120579	C	A	exonic	WDR36	.	nonsynonymous SNV	WDR36:NM_139281:exon18:c.C1988A:p.T663N	Glaucoma 1, open angle, G	9	1511	2	0	0	2	0.000661376	.	.	.	4101885	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.060	0.0292566423174	.	.	8.25e-06	0	0	0	0	0	0.0011	0	1.29e-05	2	154602	rs748204022	1.85e-05	1.915e-05	1.227e-05	2.479e-05	0.0010	1.267e-05	1.086e-05	0.0005	0.0003	0	0	0	0	0	0.0010	8.108e-06	3.317e-05	0.0001	3.945e-05	3.94e-05	3.856e-05	4.039e-05	7.352e-05	1.716e-05	1.13e-05	2.847e-05	1.859e-05	0	0	6.551e-05	0	0	0	0	7.352e-05	0	0	.	.	.	0.05	0.48080	T	0.005	0.12996	B	0.011	0.15521	B	0.005679	0.32605	N	0.403741	0.986943	0.40511	D	1.965	0.53209	M	-0.24	0.66834	T	-1.61	0.38734	N	0.364	0.49783	-0.7310	0.58913	T	0.235	0.60173	T	10	0.16009355	0.30064	T	0.029257	0.51800	D	0.060	0.17295	0.365	0.37199	0.523355545495	0.51982	0.39909135409562824	0.39824	0.0341759855025	0.03587	0.434445112944	0.29817	T	0.173953	0.52301	T	-0.167323	0.25641	T	-0.296596	0.45082	T	0.323607295751572	0.25968	T	0.784422	0.42203	T	0.5373885	0.69250	0.3038401	0.56414	0.5373885	0.69251	0.3038401	0.56413	-4.609	0.32285	T	0.39542733015013376	0.48802	0.193	0.41326	B	.;.;.	.;.;.	3.894188	0.56683	23.8	0.96692081414110553	0.30741	0.95756	0.66020	D	AEFBI	0.437797	0.49746	N	-0.0596077289431658	0.39175	2.305943	0.0818177572870553	0.43635	2.661173	0.999985747190055	0.51787	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.72	3.92	0.44525	3.674000	0.54333	2.714000	0.34259	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.8124:0.1218:0.0658	12.003	0.52536	899	0.25060	.;.;.	.	.	.	.	.	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	628.49	33	chr5	111120579	.	C	A	628.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.678;DP=237;ExcessHet=0;FS=1.007;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.84;ReadPosRankSum=0.062;SOR=0.735	GT:AD:DP:GQ:PL	0/1:30,28:58:99:639,0,664	6	0	1	0
chr5	112838187	112838187	C	T	exonic	APC	.	nonsynonymous SNV	APC:NM_001127511:exon14:c.C2539T:p.P847S,APC:NM_001354897:exon15:c.C2623T:p.P875S,APC:NM_001354899:exon15:c.C2509T:p.P837S,APC:NM_001354901:exon15:c.C2416T:p.P806S,APC:NM_001354902:exon15:c.C2320T:p.P774S,APC:NM_001354905:exon15:c.C2113T:p.P705S,APC:NM_000038:exon16:c.C2593T:p.P865S,APC:NM_001354895:exon16:c.C2593T:p.P865S,APC:NM_001354898:exon16:c.C2518T:p.P840S,APC:NM_001354900:exon16:c.C2470T:p.P824S,APC:NM_001354903:exon16:c.C2290T:p.P764S,APC:NM_001354904:exon16:c.C2215T:p.P739S,APC:NM_001127510:exon17:c.C2593T:p.P865S,APC:NM_001354896:exon17:c.C2647T:p.P883S,APC:NM_001354906:exon17:c.C1744T:p.P582S	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	0	1516	6	0	0	6	0.00197498	.	.	.	139402	Familial_adenomatous_polyposis_1|Hereditary_cancer-predisposing_syndrome|Gardner_syndrome|APC-related_attenuated_familial_adenomatous_polyposis|APC-Associated_Polyposis_Disorders|Hereditary_cancer|not_provided|Familial_multiple_polyposis_syndrome|not_specified	MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0019336,MedGen:C0017097,Orphanet:79665|MONDO:MONDO:0016613,MedGen:C5679615,Orphanet:247806|MedGen:CN239210|MedGen:C1333600|MedGen:C3661900|MONDO:MONDO:0021055,MedGen:C0032580,OMIM:PS175100,Orphanet:733|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.108	0.0229687603216	0.0002	0.000798722	9.066e-05	9.638e-05	0.0002	0	0	0.0001	0	6.056e-05	9.7e-05	15	154602	rs192620988	7.525e-05	7.524e-05	8.031e-05	7.013e-05	0.0012	6.382e-05	5.938e-05	0.0006	0.0004	0.0006	0.0001	0.0005	0	0	0.0012	3.777e-05	0.0003	5.797e-05	0.0003	0.0003	0.0003	0.0002	0.0014	0.0002	0.0002	0.0009	0.0008	0.0002	0	0.0014	0.0012	0	0	0	8.821e-05	0.0009	0	0.405	0.14546	T	0.21	0.26714	T	0.0	0.02946	B	0.0	0.01387	B	0.003595	0.34740	N	0.291828	0.718074	0.33588	D	0.835	0.21042	L	-3.17	0.93054	D	-0.36	0.13035	N	0.067	0.03956	-0.2388	0.76657	T	0.584	0.85052	D	10	0.014352292	0.00302	T	0.022969	0.45902	T	0.108	0.30607	.	.	0.769083392219	0.76697	0.4007883173594383	0.39993	.	.	0.320167243481	0.13447	T	0.546892	0.84587	D	-0.168061	0.25528	T	-0.297657	0.44971	T	0.0125627359375358	0.00209	T	0.817118	0.47377	T	0.02953094	0.02463	0.04369399	0.05494	0.02953094	0.02463	0.04369399	0.05494	-2.215	0.04113	T	0.13638163916491733	0.14909	0.069	0.04477	B	.;.;.;.	.;.;.;.	1.092582	0.14763	11.31	0.93426792615462828	0.23198	0.54649	0.29668	D	AEFBI	0.095876	0.19364	N	-0.446806493316638	0.23849	1.283597	-0.292841090058392	0.28333	1.579038	0.00606068371514078	0.11116	0.706548	0.73137	0	0.653731	0.59785	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.92	3.11	0.34883	0.653000	0.24588	0.021000	0.13590	0.599000	0.40250	0.382000	0.26022	0.005000	0.19230	0.998000	0.85391	0.1314:0.5981:0.0:0.2706	5.360	0.15387	611	0.66908	.;.;.;.	.	.	.	.	.	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	0.002014	0.000000	0.002717	0.000000	0.000000	0.000000	0.009146	0.000000	0.07143	1805.63	37	chr5	112838187	.	C	T	1805.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.387;DP=409;ExcessHet=0;FS=4.96;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.72;ReadPosRankSum=-0.518;SOR=0.973	GT:AD:DP:GQ:PL	0/1:72,70:142:99:1816,0,1985	6	0	1	0
chr5	119499449	119499449	T	C	exonic	HSD17B4	.	nonsynonymous SNV	HSD17B4:NM_001199292:exon12:c.T1051C:p.S351P,HSD17B4:NM_000414:exon13:c.T1105C:p.S369P,HSD17B4:NM_001292028:exon13:c.T685C:p.S229P,HSD17B4:NM_001374497:exon13:c.T1096C:p.S366P,HSD17B4:NM_001374498:exon13:c.T1105C:p.S369P,HSD17B4:NM_001374499:exon13:c.T778C:p.S260P,HSD17B4:NM_001374501:exon13:c.T694C:p.S232P,HSD17B4:NM_001374502:exon13:c.T694C:p.S232P,HSD17B4:NM_001199291:exon14:c.T1180C:p.S394P,HSD17B4:NM_001292027:exon14:c.T1033C:p.S345P,HSD17B4:NM_001374500:exon14:c.T664C:p.S222P,HSD17B4:NM_001374503:exon14:c.T694C:p.S232P	D-bifunctional protein deficiency, Autosomal recessive;Perrault syndrome 1, Autosomal recessive	2	1519	1	0	0	1	0.000329056	.	.	.	586310	HSD17B4-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.119	0.0202688819982	.	.	1.649e-05	0	0	0	0	2.998e-05	0	0	1.29e-05	2	154602	rs781084978	3.496e-05	0.0004	3.764e-05	3.226e-05	0.0002	2.69e-05	2.427e-05	2.903e-05	2.574e-05	6.084e-05	0	0	2.53e-05	0	0.0002	3.878e-05	1.684e-05	3.505e-05	1.314e-05	1.313e-05	2.57e-05	0	2.941e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.941e-05	0	0	0.242	0.22312	T	0.221	0.33109	T	0.001	0.11197	B	0.004	0.10090	B	0.207218	0.16453	N	0.644539	0.998062	0.24425	N	0.475	0.13142	N	-1.75	0.83495	D	-1.61	0.39314	N	0.175	0.23380	-0.8970	0.48293	T	0.264	0.63501	T	10	0.10314271	0.18945	T	0.020269	0.42829	T	0.119	0.33137	0.362	0.36711	0.824880002343	0.82322	0.5836028072308838	0.58289	0.0727130368711	0.08147	0.366561591625	0.20337	T	0.11293	0.42958	T	-0.102227	0.36054	T	-0.320973	0.42469	T	0.054950729434631	0.06349	T	0.766723	0.42712	T	0.19631228	0.41454	0.13157105	0.31591	0.19631228	0.41454	0.13157105	0.31590	-2.563	0.06901	T	0.09032067692630434	0.05612	0.076	0.05845	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	2.009926	0.25536	16.80	0.98932034170165739	0.48769	0.68143	0.33691	D	AEFBI	0.580553	0.58092	D	-0.52650164453884	0.21227	1.124927	-0.381430793229907	0.25551	1.40583	0.0673286344376866	0.15422	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.49	-0.052	0.13154	0.865000	0.27595	1.506000	0.26990	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.1112:0.0816:0.4962:0.311	4.261	0.10188	920	0.19381	N-terminal of MaoC-like dehydratase;.;N-terminal of MaoC-like dehydratase;.;.;N-terminal of MaoC-like dehydratase;N-terminal of MaoC-like dehydratase;N-terminal of MaoC-like dehydratase;N-terminal of MaoC-like dehydratase;N-terminal of MaoC-like dehydratase;N-terminal of MaoC-like dehydratase	.	.	.	.	.	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	422.37	37	chr5	119499449	.	T	C	422.37	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-3.479;DP=352;ExcessHet=1.1394;FS=223.216;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=2.07;ReadPosRankSum=2.18;SOR=8.553	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:74,33:107:99:.:.:147,0,1680:.	4	0	3	0
chr5	122152001	122152001	G	A	exonic	ZNF474	.	nonsynonymous SNV	ZNF474:NM_207317:exon2:c.G11A:p.G4E	.	433	1081	5	3	0	11	0.00506213	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.00644032191744	.	.	7.625e-05	0	0	0	0	1.532e-05	0	0.0005	5.82e-05	9	154602	rs766986538	3.433e-05	3.42e-05	2.322e-05	4.555e-05	0.0005	2.641e-05	2.383e-05	0.0004	0.0003	0	0	0	0	0	0.0004	3.601e-06	3.327e-05	0.0005	6.575e-06	6.568e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.291	0.14945	T	0.223	0.25670	T	0.012	0.16265	B	0.009	0.14300	B	0.369978	0.13542	U	0.533217	1	0.08975	N	1.01	0.25309	L	0.78	0.49358	T	-0.13	0.70432	N	0.082	0.05799	-1.0272	0.21363	T	0.063	0.26136	T	10	0.028360158	0.00969	T	0.00644	0.16956	T	0.085	0.24743	0.27	0.21893	0.104622674875	0.10061	0.01330414131086422	0.01288	0.00360207321169	0.00311	0.295596152544	0.09745	T	0.001721	0.01148	T	-0.4388	0.01315	T	-0.527533	0.19535	T	0.0135274633791747	0.00248	T	0.443756	0.12997	T	0.050827693	0.09241	0.06050607	0.11535	0.050827693	0.09241	0.06050607	0.11535	-2.723	0.07498	T	.	.	0.079	0.19316	B	.;.;.	.;.;.	1.086516	0.14700	11.25	0.75056870035081458	0.10929	0.02388	0.06778	N	AEFGBHI	0.061359	0.11725	N	-0.782053221208367	0.13778	0.6812251	-0.697139770702491	0.17032	0.9037892	0.999377384751567	0.39355	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.05	0.987	0.18908	0.048000	0.13962	1.233000	0.25056	0.676000	0.76740	0.084000	0.22438	1.000000	0.68203	0.798000	0.37648	0.2677:0.3834:0.3488:0.0	5.413	0.15659	563	0.71062	.;.;.	.	.	.	.	.	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	1045.27	35	chr5	122152001	.	G	A	1045.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.374;DP=277;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.56;ReadPosRankSum=-1.423;SOR=0.623	GT:AD:DP:GQ:PL	0/1:55,44:99:99:1055,0,1351	5	0	1	1
chr5	128990378	128990378	C	T	exonic	SLC27A6	.	stopgain	SLC27A6:NM_001017372:exon4:c.C883T:p.Q295X,SLC27A6:NM_001317984:exon5:c.C883T:p.Q295X,SLC27A6:NM_014031:exon5:c.C883T:p.Q295X	.	437	1080	5	0	0	5	0.00230947	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.00119808	0.0013	9.614e-05	0	0	0.0106	0.0007	0.0055	0.0025	0.0010931	169	154602	rs183450464	0.0007	0.0007	0.0007	0.0008	0.0027	0.0007	0.0007	0.0024	0.0023	5.977e-05	0	3.827e-05	0	0.0127	0.0005	0.0001	0.0006	0.0027	0.0011	0.0011	0.0007	0.0015	0.0021	0.0009	0.0009	0.0011	0.0009	7.222e-05	0	0	0	0	0.0114	0	0.0004	0.0009	0.0021	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.055023	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.445	0.48319	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.299735	0.82947	D	0.652534	0.98317	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive;Recessive;Recessive	.;High;High;High	9.006371	0.98330	39	0.99833079927476953	0.91456	0.94976	0.62988	D	AEFI	0.100963	0.20289	N	1.06512256627337	0.97433	16.11897	0.890763188351985	0.95157	13.363	0.336704936158687	0.19542	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	4.59	4.59	0.56297	4.517000	0.60221	4.247000	0.42738	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.957000	0.51019	0.0:1.0:0.0:0.0	18.732	0.91701	562	0.71143	AMP-dependent synthetase/ligase;AMP-dependent synthetase/ligase;AMP-dependent synthetase/ligase;AMP-dependent synthetase/ligase	.	.	.	.	.	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	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	1062.45	33	chr5	128990378	.	C	T	1062.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.86;DP=299;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.64;ReadPosRankSum=0.031;SOR=0.732	GT:AD:DP:GQ:PL	0/1:72,51:123:99:1073,0,1756	6	0	1	0
chr5	134578685	134578685	C	T	exonic	JADE2	.	nonsynonymous SNV	JADE2:NM_001289984:exon11:c.C1744T:p.R582W,JADE2:NM_015288:exon11:c.C1741T:p.R581W,JADE2:NM_001289985:exon12:c.C1921T:p.R641W,JADE2:NM_001308143:exon12:c.C1873T:p.R625W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.173	0.0440744588535	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs34200923	2.737e-06	2.736e-06	4.085e-06	1.375e-06	2.698e-06	6.4e-07	4.3e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	0.53172	D	0.185	0.55759	T	0.997	0.70673	D	0.642	0.52168	P	0.351896	0.13803	N	0.652897	1	0.81001	D	0	0.06538	N	0.87	0.47130	T	-2.04	0.46842	N	0.398	0.57092	-0.8141	0.54300	T	0.099	0.36983	T	10	0.14137149	0.26863	T	0.044074	0.61307	D	0.173	0.43840	0.229	0.15556	0.196089822672	0.19227	0.5443188657691276	0.54357	1.64757782107	0.89487	0.684662342072	0.64938	T	0.025353	0.26335	T	-0.0803495	0.39660	T	-0.353193	0.38839	T	0.713992947630079	0.41397	D	0.958304	0.85901	D	0.08771398	0.20436	0.10884233	0.26224	0.08771398	0.20436	0.10884233	0.26223	-5.76	0.44224	T	.	.	0.323	0.65907	B	.;.;.;.	.;.;.;.	4.477939	0.69836	25.4	0.99874537288704845	0.95160	0.96532	0.69610	D	AEFDBI	0.732995	0.67957	D	-0.0614432468062892	0.39093	2.299896	-0.0526931610318249	0.37374	2.187445	0.998525105097966	0.37129	0.722319	0.85440	0	0.702456	0.74545	0	0.698795	0.65105	0	0.735409	0.98432	0	.	.	5.34	0.075	0.13710	2.760000	0.47262	.	.	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.8192:0.1808:0.0:0.0	15.851	0.78713	846	0.36215	.;.;.;.	.	.	.	.	.	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	2366.44	35	chr5	134578685	.	C	T	2366.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.78;DP=357;ExcessHet=0;FS=2.737;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.26;ReadPosRankSum=-0.825;SOR=0.88	GT:AD:DP:GQ:PL	0/1:73,93:166:99:2377,0,1563	6	0	1	0
chr5	139051017	139051017	G	A	exonic	SIL1	.	nonsynonymous SNV	SIL1:NM_022464:exon4:c.C274T:p.R92W,SIL1:NM_001037633:exon5:c.C274T:p.R92W	Marinesco-Sjogren syndrome, Autosomal recessive	2	1507	13	0	0	13	0.00429468	.	.	.	297332	X-linked_intellectual_disability-short_stature-overweight_syndrome|not_specified|not_provided|Marinesco-Sjögren_syndrome	MONDO:MONDO:0010496,MedGen:C0796218,OMIM:300957,Orphanet:457240|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0009567,MedGen:C0024814,OMIM:248800,Orphanet:559	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.651	.	7.7e-05	0.00559105	0.0055	0.0005	0.0005	0.0001	0	7.492e-05	0.0022	0.0390	0.0046442	718	154602	rs149242794	0.0025	0.0025	0.0014	0.0037	0.0403	0.0025	0.0025	0.0392	0.0388	5.974e-05	6.708e-05	0	5.038e-05	0	0.0009	9.443e-05	0.0021	0.0403	0.0014	0.0014	0.0007	0.0020	0.0404	0.0012	0.0012	0.0358	0.0340	0.0002	0	0	0	0.0002	0	0.0034	5.882e-05	0	0.0404	0.001	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.986	0.78396	D	0.000001	0.62929	D	0.054336	0.994436	0.42281	D	1.955	0.52871	M	-0.59	0.71543	T	-5.63	0.94223	D	0.928	0.94077	0.028	0.82807	D	0.523	0.82225	D	10	0.010771424	0.00238	T	.	.	.	0.651	0.86836	.	.	0.877052346161	0.87585	0.6527762419249064	0.65213	0.882852325321	0.69832	0.67709851265	0.63853	T	0.830761	0.95956	D	-0.0243582	0.48230	T	0.220803	0.84213	D	0.0966648254909865	0.11985	T	0.985551	0.97997	D	0.50799036	0.67562	0.3459323	0.60268	0.5122592	0.67812	0.3634979	0.61735	-9.907	0.73353	D	0.8458133966197738	0.91324	0.402	0.62941	A	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.888975	0.56570	23.8	0.99898109683481351	0.97048	0.57578	0.30413	D	AEFGBI	0.522537	0.54651	D	0.299293780107587	0.56114	3.775589	0.142648700226275	0.46755	2.916279	0.416986442230796	0.20260	0.719381	0.83141	0	0.723133	0.82719	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.32	2.43	0.28797	1.055000	0.30077	2.811000	0.34908	0.676000	0.76740	0.435000	0.26448	0.999000	0.35428	0.329000	0.25179	0.0:0.0:0.5071:0.4929	11.034	0.47008	597	0.68309	.;.;.;.;.;.;.;.	.	.	.	.	.	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	0.004532	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.034091	0.07143	1544.45	34	chr5	139051017	.	G	A	1544.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.704;DP=329;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.58;ReadPosRankSum=-0.223;SOR=0.668	GT:AD:DP:GQ:PL	0/1:77,69:146:99:1555,0,1732	6	0	1	0
chr5	139394501	139394501	T	A	exonic	PROB1	.	nonsynonymous SNV	PROB1:NM_001161546:exon1:c.A581T:p.E194V	.	410	1100	11	1	0	13	0.00587438	.	.	.	2400965	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.241	0.299907985876	.	0.000199681	0	0	0	0	0	0	0	0	7.68e-05	2	26028	rs199886274	0.0002	0.0002	0.0002	0.0002	0.0020	0.0002	0.0002	0.0011	0.0008	0.0003	0.0002	0.0004	0	0.0003	0.0020	0.0002	0.0004	1.592e-05	0.0002	0.0002	0.0002	0.0001	0.0005	0.0001	0.0001	0.0002	0.0002	4.822e-05	0	0.0005	0.0003	0	0	0	0.0002	0.0005	0	0.0	0.91255	D	0.016	0.60972	D	0.998	0.73220	D	0.964	0.71005	D	.	.	.	.	0.843217	0.28601	N	1.7	0.43825	L	.	.	.	-2.14	0.48523	N	0.536	0.56403	-0.9506	0.40868	T	0.139	0.45810	T	8	0.3284135	0.50111	T	0.299908	0.90847	D	0.241	0.54641	0.295	0.25881	0.371531589858	0.36766	0.5112456057661855	0.51046	.	.	0.846853017807	0.89138	D	0.036422	0.24096	T	-0.289166	0.09720	T	-0.355584	0.38563	T	0.176193228908363	0.18991	T	0.523548	0.17131	T	0.30372795	0.53237	0.20325549	0.44393	0.30372795	0.53237	0.20325549	0.44392	-4.379	0.29271	T	.	.	0.607	0.69173	P	.	.	4.158448	0.62428	24.5	0.99116013655713597	0.52854	0.52717	0.29198	D	AEFDBHCI	0.274945	0.39001	N	0.0751945227284188	0.45308	2.789466	0.0345462446706573	0.41332	2.481326	0.999999977375548	0.74766	0.56387	0.32371	0	0.484254	0.07192	0	0.503968	0.08637	0	0.554799	0.18163	0	.	.	4.4	3.23	0.36150	0.462000	0.21667	7.791000	0.68894	0.578000	0.29377	0.007000	0.17678	1.000000	0.68203	0.580000	0.30894	0.181:0.0984:0.0:0.7206	4.027	0.09176	627	0.65350	.	.	.	.	.	.	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	753.63	32	chr5	139394501	.	T	A	753.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.026;DP=240;ExcessHet=0;FS=2.481;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.22;ReadPosRankSum=0.272;SOR=1.19	GT:AD:DP:GQ:PL	0/1:29,28:57:99:764,0,795	6	0	1	0
chr5	141101203	141101203	G	T	exonic	PCDHB3	.	nonsynonymous SNV	PCDHB3:NM_018937:exon1:c.G554T:p.R185L	.	438	1073	11	0	0	11	0.00509968	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	0.01566026048	.	0.00119808	0.0008	0	0	0	0	0.0001	0.0011	0.0050	0.0006662	103	154602	rs566780663	0.0003	0.0003	0.0002	0.0005	0.0049	0.0003	0.0003	0.0045	0.0043	0	4.472e-05	3.826e-05	2.519e-05	0	0.0007	4.676e-05	0.0004	0.0049	0.0002	0.0002	8.993e-05	0.0002	0.0037	0.0001	9.232e-05	0.0024	0.0020	4.811e-05	0	0	0	0	0	0.0034	4.41e-05	0	0.0037	0.052	0.39097	T	0.178	0.29639	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.21	0.18414	T	-4.03	0.74348	D	0.23	0.25867	-1.0954	0.04695	T	0.087	0.33718	T	9	0.0036622584	0.00067	T	0.01566	0.36515	T	0.143	0.38195	0.342	0.33464	0.311387274539	0.30754	0.36148683159977585	0.36062	.	.	0.331932902336	0.15226	T	.	.	.	-0.452027	0.01099	T	-0.421129	0.30947	T	0.119154054954035	0.14347	T	0.113889	0.00867	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.163	0.36053	B	.	.	1.251178	0.16477	12.57	0.99685732750895262	0.79574	0.24557	0.22430	N	AEFDBI	0.254400	0.37372	N	0.0757049902102985	0.45331	2.791434	-0.0406980266450233	0.37896	2.225093	0.177518238001022	0.17825	0.729952	0.87565	0	0.573888	0.26702	0	0.877121	0.99996	0	0.564101	0.26826	0	.	.	5.08	4.2	0.48814	0.449000	0.21459	.	.	0.575000	0.29119	0.000000	0.06391	0.000000	0.08366	0.946000	0.48989	0.1413:0.0:0.8587:0.0	11.816	0.51487	484	0.77165	.	.	.	.	.	.	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	0.003021	0.000000	0.000000	0.002924	0.000000	0.008621	0.006098	0.007576	0.07143	2873.63	101	chr5	141101203	.	G	T	2873.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.861;DP=616;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.94;ReadPosRankSum=-0.351;SOR=0.727	GT:AD:DP:GQ:PL	0/1:109,113:222:99:2884,0,2700	6	0	1	0
chr5	141173766	141173766	G	C	exonic	PCDHB7	.	nonsynonymous SNV	PCDHB7:NM_018940:exon1:c.G931C:p.A311P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.0073481168098	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.847e-07	1.163e-05	0	1.376e-06	9.001e-07	0	0	.	.	0	0	0	0	0	0	9.001e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.29823	T	0.088	0.40586	T	0.758	0.43456	P	0.516	0.48072	P	.	.	.	.	1	0.08975	N	1.905	0.50856	L	4.57	0.01917	T	-1.9	0.44284	N	0.19	0.20793	-0.9688	0.37448	T	0.012	0.04463	T	9	0.14442283	0.27407	T	0.007348	0.19496	T	0.054	0.15330	0.24	0.17218	0.297718772494	0.29385	0.23022774839758178	0.22937	0.259062600134	0.28458	0.285979688168	0.08340	T	0.007225	0.06645	T	-0.192082	0.21952	T	-0.513689	0.20937	T	0.239479869604111	0.22395	T	0.0113989	0.00062	T	0.14268309	0.32824	0.21860704	0.46570	0.14268309	0.32824	0.21860704	0.46569	-8.191	0.62365	D	.	.	0.557	0.67107	A	.	.	1.047924	0.14288	10.87	0.99254472283569606	0.56989	0.18010	0.20081	N	AEFDBI	0.376982	0.46093	N	-0.355294400045894	0.27079	1.482807	-0.435194067126652	0.23971	1.310156	0.0246842635642356	0.13596	0.554377	0.28877	0	0.573888	0.26702	0	0.578056	0.29568	0	0.567892	0.33627	0	.	.	4.61	2.79	0.31792	-0.037000	0.12116	.	.	-0.153000	0.12021	0.000000	0.06391	0.000000	0.08366	0.934000	0.47231	0.2524:0.0:0.5847:0.1629	4.291	0.10325	652	0.62785	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	.	.	.	.	.	.	.	.	0.3	338.9	99	chr5	141173766	.	G	C	338.9	.	AC=3;AF=0.3;AN=10;BaseQRankSum=-3.271;DP=875;ExcessHet=1.1394;FS=200.776;MLEAC=3;MLEAF=0.3;MQ=60;MQRankSum=0;QD=0.71;ReadPosRankSum=1.42;SOR=10.125	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:151,30:201:99:.:.:226,0,2753:.	2	0	3	2
chr5	141303079	141303079	C	G	exonic	SLC25A2	.	nonsynonymous SNV	SLC25A2:NM_031947:exon1:c.G787C:p.V263L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.146	0.00909780768334	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.611e-06	0.0012	9.648e-06	5.557e-06	9.117e-06	4.08e-06	2.99e-06	4.61e-06	3.36e-06	0	0	3.841e-05	0	0	0	9.117e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.865	0.02639	T	0.669	0.06325	T	0.0	0.02946	B	0.001	0.04355	B	0.940851	0.07593	N	1.028430	0.99999	0.08975	N	-1.395	0.00601	N	-1.1	0.77336	T	0.91	0.01595	N	0.015	0.00181	-1.0189	0.24074	T	0.099	0.36957	T	10	0.04655108	0.03861	T	0.009098	0.23941	T	0.146	0.38789	0.353	0.35246	0.307966526162	0.30417	0.15140888837097558	0.15062	0.179086514007	0.20148	0.295074403286	0.09668	T	0.158211	0.50113	T	-0.262078	0.12658	T	-0.614233	0.11644	T	0.0472256252312583	0.05005	T	0.090191	0.00668	T	0.05519885	0.10696	0.03909303	0.03923	0.05519885	0.10696	0.03909303	0.03923	-0.632	0.00670	T	.	.	0.081	0.08129	B	.	.	0.911050	0.12853	9.367	0.29972271365944797	0.01616	0.36561	0.25561	N	AEFDBI	0.079883	0.16143	N	-1.27563492994376	0.03971	0.1783734	-1.17336112797431	0.06358	0.3057852	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	.	.	.	.	.	.	.	.	0.4	2953.65	85	chr5	141303079	.	C	G	2953.65	.	AC=4;AF=0.4;AN=10;BaseQRankSum=-5.028;DP=946;ExcessHet=6.1542;FS=234.538;MLEAC=5;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.09;ReadPosRankSum=1.62;SOR=10.441	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:138,42:180:99:0|1:141303079_C_G:507,0,4591:141303079	1	0	4	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|1:138,42:180:99:0|1:141303079_C_G:507,0,4591:141303079	0	0	6	1
chr5	141399013	141399013	G	A	exonic	PCDHGB5	.	nonsynonymous SNV	PCDHGB5:NM_018925:exon1:c.G886A:p.E296K,PCDHGB5:NM_032099:exon1:c.G886A:p.E296K	.	431	1036	50	5	0	60	0.0281426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0089	0.00579073	0.0116	0.0014	0.0042	0	0.0115	0.0137	0.0169	0.0201	0.0105044	1624	154602	rs145783835	0.0097	0.0097	0.0091	0.0103	0.0205	0.0096	0.0095	0.0197	0.0194	0.0011	0.0044	0.0694	7.557e-05	0.0088	0.0175	0.0081	0.0128	0.0205	0.0077	0.0077	0.0075	0.0079	0.0168	0.0073	0.0072	0.0139	0.0128	0.0014	0	0.0067	0.0734	0.0004	0.0084	0.0136	0.0083	0.0076	0.0168	.	.	.	0.139	0.34009	T	0.268	0.31720	B	0.111	0.32014	B	.	.	.	.	0.999841	0.49770	D	1.815	0.47718	L	.	.	.	.	.	.	0.069	0.04188	.	.	.	.	.	.	.	0.0034748316	0.00062	T	.	.	.	.	.	.	.	.	.	0.48512439086238984	0.48432	.	.	.	.	.	0.067878	0.33313	T	-0.321101	0.06807	T	-0.218421	0.52889	T	.	.	.	0.308469	0.05950	T	0.1453064	0.33314	0.41823596	0.65853	0.1453064	0.33314	0.41823596	0.65853	-5.246	0.39406	T	.	.	0.098	0.16187	B	.;.	.;.	2.124138	0.27037	17.33	0.55456761795019083	0.05346	0.10514	0.16000	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.961241225487468	0.28541	0.343041	0.05630	0	0.18701	0.04157	0	0.072005	0.02045	0	0.456374	0.07007	0	0.133118	0.26076	4.89	3.99	0.45527	0.313000	0.19165	.	.	0.653000	0.53440	0.000000	0.06391	0.000000	0.08366	0.959000	0.51448	0.0804:0.1482:0.7714:0.0	9.294	0.36965	809	0.43032	.;Cadherin-like|Cadherin-like	.	.	.	.	.	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	0.018127	0.005051	0.019022	0.008772	0.000000	0.000000	0.036585	0.011364	0.07143	1944.45	56	chr5	141399013	.	G	A	1944.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.89;DP=425;ExcessHet=0;FS=1.28;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.71;ReadPosRankSum=0.859;SOR=0.853	GT:AD:DP:GQ:PL	0/1:80,73:153:99:1955,0,2048	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	0/1:189,90:279:99:298,0,3706	2	0	5	0
chr5	149259544	149259544	A	G	splicing	ABLIM3	NM_001301028:exon19:c.1606-2A>G	.	.	.	423	1063	33	3	0	39	0.0180139	0	0.006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00479233	0.0129	0	0.0160	0	0.0006	0.0052	0.0055	0.0210	0.0016494	255	154602	rs534581717	0.0032	0.0031	0.0026	0.0039	0.0233	0.0032	0.0031	0.0224	0.0221	0.0002	0.0030	0.0096	2.798e-05	0.0005	0.0074	0.0018	0.0044	0.0233	0.0023	0.0023	0.0020	0.0027	0.0214	0.0021	0.0020	0.0180	0.0168	0.0002	0	0.0025	0.0072	0	9.418e-05	0.0068	0.0024	0.0057	0.0214	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.19072	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.840044	0.00003	T	-0.962521	0.00225	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.095399	0.03670	0.738	0.27858813484829209	0.01403	0.00144	0.00877	N	AEFBI	.	.	.	-1.47130147512055	0.02055	0.09032965	-1.69724869164619	0.01149	0.05170863	0.999982787927218	0.51787	0.218109	0.04136	0	0.059962	0.00310	0	0.078618	0.02440	0	0.357269	0.05819	0	0.103113	0.22672	4.67	-8.31	0.00877	-2.807000	0.00827	-0.339000	0.09830	-2.761000	0.00195	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3957:0.2122:0.2942:0.098	2.437	0.04212	862	0.33134	.	.	.	.	.	.	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	922.49	36	chr5	149259544	.	A	G	922.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.76;DP=265;ExcessHet=0;FS=8.991;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.11;ReadPosRankSum=1.37;SOR=0.879	GT:AD:DP:GQ:PL	0/1:42,41:83:99:933,0,1083	6	0	1	0
chr5	151507207	151507207	G	C	exonic	FAT2	.	nonsynonymous SNV	FAT2:NM_001447:exon23:c.C12464G:p.S4155C	.	427	1073	21	1	0	23	0.010604	.	.	.	721325	FAT2-related_disorder|Spinocerebellar_ataxia_45|not_specified|not_provided	.|MONDO:MONDO:0033480,MedGen:C4540400,OMIM:617769,Orphanet:589527|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.275	0.0583599827964	0.0003	.	0.0010	0	0.0005	0	0	0.0009	0	0.0035	0.0007956	123	154602	rs145466001	0.0005	0.0005	0.0004	0.0006	0.0036	0.0004	0.0004	0.0024	0.0022	2.989e-05	0.0006	0.0057	0	1.877e-05	0.0036	0.0002	0.0008	0.0026	0.0004	0.0004	0.0004	0.0003	0.0014	0.0003	0.0003	0.0007	0.0005	2.405e-05	0	0.0001	0.0058	0	0	0.0068	0.0003	0.0024	0.0014	0.407	0.10245	T	0.035	0.52389	D	0.979	0.59044	D	0.635	0.51908	P	0.006493	0.31997	N	0.220530	0.999862	0.50061	D	1.365	0.34158	L	-1.03	0.76430	T	-1.49	0.36385	N	0.485	0.51940	-0.2370	0.76704	T	0.453	0.78656	T	10	0.009769082	0.00220	T	0.05836	0.67292	D	0.334	0.65620	.	.	0.885439632602	0.88431	0.3802229436836575	0.37937	0.502997777248	0.48648	0.476963639259	0.35639	T	0.094933	0.39518	T	-0.302035	0.08469	T	-0.210307	0.53666	T	0.108110176004173	0.13227	T	0.756024	0.37907	T	0.14777388	0.33767	0.086507246	0.20045	0.14777388	0.33766	0.086507246	0.20045	-5.171	0.38646	T	.	.	0.097	0.15966	B	.	.	3.465181	0.48318	22.6	0.87594490723490837	0.17340	0.96518	0.69540	D	AEFDBCI	0.627449	0.60990	D	0.252113336460178	0.53742	3.541934	0.16496362234461	0.47940	3.016867	0.999999996729769	0.74766	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	4.75	4.75	0.59954	7.094000	0.76602	6.571000	0.55968	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.017000	0.10941	0.0:0.0:1.0:0.0	16.133	0.81269	892	0.26670	.	.	.	.	.	.	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	0.003021	0.000000	0.008152	0.000000	0.000000	0.000000	0.000000	0.003788	0.07143	918.44	44	chr5	151507207	.	G	C	918.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.145;DP=356;ExcessHet=0;FS=0.833;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.34;ReadPosRankSum=-1.974;SOR=0.578	GT:AD:DP:GQ:PL	0/1:43,38:81:99:929,0,1105	6	0	1	0
chr5	154834880	154834880	G	C	exonic	FAXDC2	.	nonsynonymous SNV	FAXDC2:NM_032385:exon3:c.C103G:p.L35V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	0.0225774624919	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.51e-05	8.073e-05	1.775e-05	1.243e-05	5.991e-05	9.89e-06	8.44e-06	1.015e-05	8.37e-06	5.991e-05	0	0	0	0	0	1.624e-05	3.321e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.234	0.22660	T	0.192	0.28300	T	0.741	0.42992	P	0.178	0.35748	B	0.000062	0.52346	D	0.127254	0.999577	0.47641	D	2.33	0.66821	M	0.11	0.61208	T	-1.43	0.42575	N	0.476	0.55280	-0.7898	0.55741	T	0.177	0.52272	T	10	0.3608216	0.52717	T	0.022577	0.45482	T	0.128	0.35103	0.368	0.37687	0.50685403127	0.50322	0.5472392752767269	0.54649	0.565306047963	0.52874	0.427203059196	0.28826	T	0.006447	0.05881	T	-0.0350922	0.46673	T	-0.288184	0.45962	T	0.975553870201111	0.70985	D	0.824718	0.55237	T	0.1653164	0.36795	0.16677296	0.38511	0.1653164	0.36795	0.16677296	0.38510	-4.327	0.28554	T	.	.	0.122	0.45149	B	.;.;.;.;.	.;.;.;.;.	3.205176	0.43602	21.8	0.99783212881991934	0.86955	0.93639	0.58770	D	AEFDGBHCI	0.839166	0.75660	D	0.282525933287588	0.55260	3.690427	0.346314316601126	0.58285	3.998306	0.999999999999752	0.74766	0.536635	0.22144	0	0.546412	0.12157	0	0.489635	0.07774	0	0.322989	0.05693	1	.	.	6.04	5.18	0.71140	4.974000	0.63486	8.428000	0.77165	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.933000	0.47100	0.0681:0.0:0.9319:0.0	15.162	0.72472	879	0.29470	.;.;.;.;.	.	.	.	.	.	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	612.82	72	chr5	154834880	.	G	C	612.82	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-3.109;DP=616;ExcessHet=6.1542;FS=233.663;MLEAC=5;MLEAF=0.417;MQ=60;MQRankSum=0;QD=1.23;ReadPosRankSum=1.15;SOR=10.163	GT:AD:DP:GQ:PL	0/1:68,26:94:99:185,0,1412	1	0	5	1
chr5	156851073	156851073	G	A	exonic	PPP1R2B	.	nonsynonymous SNV	PPP1R2B:NM_206858:exon1:c.G511A:p.D171N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.031e-07	6.871e-07	0	1.409e-06	1.171e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.171e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27636576	0.45198	T	.	.	.	.	.	.	.	.	.	0.1625296183966478	0.16172	.	.	.	.	.	0.070071	0.33869	T	.	.	.	.	.	.	.	.	.	0.745725	0.36599	T	0.046346847	0.07740	0.1435117	0.34103	0.046346847	0.07740	0.1435117	0.34102	-6.456	0.49945	T	.	.	0.086	0.10449	B	.	.	1.816213	0.23080	15.88	0.83290083237614843	0.14644	0.79821	0.39630	D	AEFGBI	.	.	.	.	.	.	.	.	.	0.180069036060123	0.17859	0.294411	0.05044	0	0.304816	0.05638	0	0.183335	0.04453	0	0.347871	0.05795	0	0.631564	0.41391	1.41	1.41	0.21461	5.516000	0.66771	6.822000	0.56673	0.171000	0.17763	1.000000	0.71638	1.000000	0.68203	0.420000	0.27228	0.0:0.0:1.0:0.0	8.870	0.34469	563	0.71062	.	.	.	.	.	.	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	353.26	89	chr5	156851073	.	G	A	353.26	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-4.31;DP=428;ExcessHet=0.3476;FS=188.352;MLEAC=1;MLEAF=0.071;MQ=56.7;MQRankSum=-2.78;QD=1.52;ReadPosRankSum=1.54;SOR=7.743	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:108,24:143:99:.:.:325,0,4145:.	6	0	1	0
chr5	157037311	157037311	G	C	exonic	HAVCR1	.	nonsynonymous SNV	HAVCR1:NM_012206:exon6:c.C888G:p.I296M,HAVCR1:NM_001173393:exon7:c.C888G:p.I296M,HAVCR1:NM_001308156:exon7:c.C888G:p.I296M	.	.	.	.	.	.	.	.	.	.	.	2767796	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.055	0.00447617247417	.	.	3.313e-05	0	0	0	0	4.496e-05	0	6.057e-05	2.59e-05	4	154602	rs754171803	4.197e-05	4.241e-05	4.111e-05	4.283e-05	0.0005	3.329e-05	3.018e-05	0.0001	7.57e-05	0	2.237e-05	0	0	0	0.0005	4.98e-05	1.663e-05	1.162e-05	4.596e-05	4.593e-05	5.139e-05	4.028e-05	8.82e-05	2.108e-05	1.526e-05	3.762e-05	2.575e-05	0	0	0	0	0	0	0.0034	8.82e-05	0	0	0.006	0.61437	D	0.032	0.53426	D	0.764	0.43716	P	0.242	0.38699	B	0.661860	0.10420	N	0.817023	1	0.08975	N	.	.	.	2.26	0.17596	T	-0.68	0.19509	N	0.316	0.35620	-1.0524	0.13736	T	0.034	0.14813	T	10	0.2033078	0.36481	T	0.004476	0.10969	T	0.055	0.15663	0.565	0.68633	0.358948522604	0.35510	0.11507033707333514	0.11435	0.46317687756	0.45825	0.301456302404	0.10617	T	0.015584	0.13043	T	-0.330719	0.06057	T	-0.58238	0.14332	T	0.152040362358093	0.17265	T	0.50365	0.15850	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.29367	B	.;.;.;.	.;.;.;.	0.989842	0.13675	10.22	0.99503934093137081	0.68206	0.08289	0.14237	N	AEFBI	0.036166	0.04774	N	-0.454874452813842	0.23574	1.266972	-0.571281204974551	0.20243	1.089752	0.998581954892918	0.37247	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.07	3.19	0.35720	0.074000	0.14525	0.368000	0.17646	0.676000	0.76740	0.005000	0.17040	0.349000	0.24462	0.026000	0.12556	0.0:0.2067:0.7933:0.0	9.933	0.40701	637	0.64373	.;.;.;.	.	.	.	.	.	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	0.001008	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	1254.45	34	chr5	157037311	.	G	C	1254.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.74;DP=291;ExcessHet=0;FS=1.597;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.42;ReadPosRankSum=-0.673;SOR=0.675	GT:AD:DP:GQ:PL	0/1:51,50:101:99:1265,0,1147	6	0	1	0
chr5	157165928	157165928	G	T	exonic	FAM71B	.	nonsynonymous SNV	FAM71B:NM_130899:exon1:c.C241A:p.L81I	.	426	1090	6	0	0	6	0.00274474	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.201	0.00904159084209	.	.	0.0004	0	8.637e-05	0	0	0.0001	0	0.0028	0.0003493	54	154602	rs753017086	0.0002	0.0002	0.0001	0.0003	0.0027	0.0002	0.0002	0.0024	0.0023	0	2.236e-05	0	0	0	0.0014	6.025e-05	0.0001	0.0027	9.192e-05	9.186e-05	8.993e-05	9.4e-05	0.0015	5.524e-05	4.361e-05	0.0007	0.0005	0	0	0	0	0	0	0	0.0001	0	0.0015	0.059	0.37536	T	0.013	0.63109	D	1.0	0.90584	D	0.996	0.84481	D	0.008740	0.30696	N	0.211972	0.533176	0.31473	N	2.95	0.84923	M	3.17	0.07599	T	-1.86	0.43524	N	0.542	0.56919	-0.8238	0.53695	T	0.091	0.34928	T	10	0.041705012	0.02851	T	0.009042	0.23797	T	0.201	0.48592	0.491	0.57732	0.221019684889	0.21715	0.16683595858366893	0.16603	0.521529759999	0.49918	0.575483798981	0.49450	T	0.237165	0.60479	T	-0.4485	0.01153	T	-0.421006	0.30959	T	0.256254536269858	0.23150	T	0.893711	0.63166	D	0.14817753	0.33839	0.16372362	0.37964	0.14817753	0.33839	0.16372362	0.37964	-7.7	0.59008	D	.	.	0.224	0.45495	B	.	.	3.838695	0.55534	23.6	0.99580780977141337	0.72980	0.86167	0.45397	D	AEFBI	0.371153	0.45727	N	0.692937394801496	0.79168	7.021389	0.587555663670919	0.74047	6.071048	0.970119861462481	0.29182	0.554377	0.28877	0	0.588066	0.40923	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.67	4.67	0.58089	3.576000	0.53622	7.688000	0.65646	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.464000	0.28207	0.0:0.0:1.0:0.0	13.803	0.62702	509	0.75304	.	.	.	.	.	.	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	0.001359	0.002924	0.000000	0.000000	0.000000	0.003788	0.07143	1896.49	40	chr5	157165928	.	G	T	1896.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.481;DP=306;ExcessHet=0;FS=8.462;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.54;ReadPosRankSum=0.778;SOR=0.989	GT:AD:DP:GQ:PL	0/1:49,73:122:99:1907,0,1230	6	0	1	0
chr5	176598145	176598145	A	T	exonic	GPRIN1	.	nonsynonymous SNV	GPRIN1:NM_052899:exon2:c.T1690A:p.S564T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.00491868142636	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1168530691	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.579e-06	6.568e-06	0	1.347e-05	2.416e-05	0	0	.	.	2.416e-05	0	0	0	0	0	0	0	0	0	0.437	0.09346	T	0.302	0.20228	T	0.017	0.17573	B	0.005	0.11217	B	0.584881	0.11107	N	0.734869	1	0.08975	N	1.545	0.39105	L	2.85	0.10578	T	-1.33	0.33197	N	0.04	0.01347	-0.9197	0.45594	T	0.017	0.06950	T	10	0.04877752	0.04375	T	0.004919	0.12380	T	0.009	0.00846	0.271	0.22052	0.138757226776	0.13463	0.045962810550253905	0.04540	.	.	0.262757539749	0.05222	T	0.003057	0.02453	T	-0.395144	0.02491	T	-0.805373	0.01772	T	0.0216990323890352	0.00876	T	0.260974	0.04194	T	0.03186223	0.03105	0.038916815	0.03866	0.03186223	0.03104	0.038916815	0.03865	-4.939	0.36171	T	.	.	0.084	0.09627	B	.	.	-0.057319	0.03902	0.858	0.81001746972800859	0.13472	0.04231	0.09751	N	AEFDBI	0.077952	0.15716	N	-1.22005469891017	0.04710	0.21314	-1.29115986368317	0.04549	0.2148331	0.980248340969972	0.30114	0.712529	0.81865	0	0.633656	0.55848	0	0.635938	0.45252	0	0.699875	0.68795	0	.	.	4.29	-2.36	0.06282	-1.062000	0.03579	0.684000	0.20706	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.6518:0.0:0.2134:0.1348	5.060	0.13887	374	0.84073	.	.	.	.	.	.	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	2821.44	42	chr5	176598145	.	A	T	2821.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.061;DP=504;ExcessHet=0;FS=0.522;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.83;ReadPosRankSum=-1.255;SOR=0.622	GT:AD:DP:GQ:PL	0/1:97,107:204:99:2832,0,2389	6	0	1	0
chr6	5086404	5086404	C	T	exonic	PPP1R3G	.	nonsynonymous SNV	PPP1R3G:NM_001145115:exon1:c.C919T:p.P307S	.	418	1098	5	1	0	7	0.00317749	.	.	.	2330426	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.377	0.548959300402	.	.	0.0010	0.0008	0	0	0	0.0002	0	0.0017	0.0001035	16	154602	rs747852897	0.0003	0.0003	0.0002	0.0003	0.0039	0.0003	0.0003	0.0026	0.0022	6.333e-05	0.0002	0	0	0	0.0039	0.0002	0.0005	0.0019	0.0002	0.0002	0.0002	0.0001	0.0010	0.0001	8.71e-05	0.0004	0.0003	2.405e-05	0	0	0	0	0	0.0068	0.0002	0.0009	0.0010	0.017	0.51248	D	0.0	0.92824	D	0.992	0.64738	D	0.861	0.61279	P	.	.	.	.	0.998606	0.45151	D	2.69	0.78713	M	-0.01	0.62762	T	-6.11	0.90023	D	0.435	0.47395	-0.4975	0.68740	T	0.267	0.63876	T	9	0.10825947	0.20146	T	0.548959	0.95834	D	0.377	0.69527	.	.	0.163833314356	0.15978	0.4447640364918091	0.44394	.	.	0.644832313061	0.59251	T	0.219117	0.58203	T	-0.370931	0.03547	T	-0.318823	0.42704	T	0.203722417354584	0.20620	T	0.49905	0.15565	T	0.65049857	0.75391	0.60406935	0.76988	0.65049857	0.75392	0.60406935	0.76989	-9.795	0.72675	D	.	.	0.719	0.73751	P	.	.	4.477773	0.69836	25.4	0.99859871157456914	0.93820	0.69303	0.34135	D	AEFDBCI	0.199787	0.32656	N	0.318660494628315	0.57105	3.876831	0.213202669615254	0.50580	3.248483	0.999999781677831	0.74766	0.582742	0.33608	0	0.541168	0.11318	0	0.503968	0.08637	0	0.603991	0.37454	0	.	.	4.58	3.7	0.41607	3.838000	0.55532	5.311000	0.48263	0.519000	0.23678	0.993000	0.37899	1.000000	0.68203	0.416000	0.27139	0.0:0.8214:0.1786:0.0	11.720	0.50942	976	0.04745	CBM21 (carbohydrate binding type-21) domain|CBM21 (carbohydrate binding type-21) 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	0.002262	0.000000	0.011765	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	732.49	37	chr6	5086404	.	C	T	732.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.481;DP=233;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.09;ReadPosRankSum=1.66;SOR=0.652	GT:AD:DP:GQ:PL	0/1:24,28:52:99:743,0,603	6	0	1	0
chr6	17600893	17600923	GCGGCGCCGCCGCCCCCGCAGCTGGGCTATT	-	exonic	FAM8A1	.	frameshift deletion	FAM8A1:NM_016255:exon1:c.484_514del:p.A162Tfs*7	.	417	1094	7	0	4	11	0.00318907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.17e-05	8	154602	rs1465384671	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	106.79	34	chr6	17600892	.	CGCGGCGCCGCCGCCCCCGCAGCTGGGCTATT	C	106.79	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.96;DP=285;ExcessHet=0;FS=11.237;MLEAC=1;MLEAF=0.071;MQ=59.34;MQRankSum=-6.299;QD=1.11;ReadPosRankSum=-0.881;SOR=2.037	GT:AD:DP:GQ:PL	0/1:87,9:96:99:117,0,3622	6	0	1	0
chr6	26468202	26468202	G	C	exonic	BTN2A1	.	nonsynonymous SNV	BTN2A1:NM_001197233:exon7:c.G1054C:p.V352L,BTN2A1:NM_007049:exon8:c.G1237C:p.V413L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.0113536328415	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.104e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.322	0.13522	T	0.694	0.10429	T	0.04	0.21238	B	0.048	0.24975	B	0.004762	0.33407	N	0.137167	1	0.08975	N	1.02	0.25474	L	0.18	0.60361	T	-1.07	0.27876	N	0.037	0.01135	-1.0282	0.21038	T	0.046	0.19879	T	10	0.103967994	0.19141	T	0.011354	0.28886	T	0.046	0.12618	0.696	0.83313	0.330069100803	0.32608	0.18803037934269917	0.18721	0.073190021523	0.08211	0.332187712193	0.15264	T	0.002426	0.01816	T	-0.263576	0.12485	T	-0.616385	0.11471	T	0.136818408966064	0.15998	T	0.253675	0.03893	T	0.08667843	0.20157	0.044379774	0.05736	0.08667843	0.20157	0.044379774	0.05735	-5.069	0.38799	T	.	.	0.183	0.42346	B	.;.	.;.	1.079481	0.14625	11.18	0.65931159684803642	0.07913	0.17428	0.19833	N	AEFDBI	0.148750	0.27270	N	-1.15219466408591	0.05744	0.2626631	-1.21295770557281	0.05701	0.2723853	0.999415319775984	0.39577	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	2.67	0.827	0.17972	-0.311000	0.08164	1.108000	0.24132	-0.191000	0.09375	0.000000	0.06391	0.000000	0.08366	0.086000	0.17578	0.1419:0.0:0.6121:0.246	3.473	0.07138	637	0.64373	.;SPRY domain|B30.2/SPRY domain|SPRY domain|Butyrophilin subfamily 1/2, SPRY/PRY 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	.	.	.	.	.	.	.	.	0.1	55.17	113	chr6	26468202	.	G	C	55.17	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-3.69;DP=826;ExcessHet=0;FS=165.634;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.27;ReadPosRankSum=4.12;SOR=9.022	GT:AD:DP:GQ:PL	0/1:169,36:233:64:64,0,3718	4	0	1	2
chr6	27310582	27310582	G	A	exonic	POM121L2	.	nonsynonymous SNV	POM121L2:NM_033482:exon1:c.C1589T:p.A530V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.00457380117422	.	.	.	.	.	.	.	.	.	.	.	.	.	rs931459915	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.025	0.56192	D	.	.	.	.	.	.	0.055521	0.22635	N	0.224693	0.852663	0.28474	N	1.385	0.34509	L	1.94	0.22678	T	-2.33	0.51646	N	0.033	0.00882	-1.0093	0.27136	T	0.021	0.08917	T	10	0.06081772	0.07530	T	0.004574	0.11283	T	0.037	0.09474	0.228	0.15406	0.0401082797425	0.02173	0.28922171704253374	0.28835	.	.	0.254709690809	0.04280	T	0.016631	0.13711	T	-0.321687	0.06761	T	-0.699857	0.05834	T	0.437501043081284	0.30337	T	0.454055	0.12934	T	0.08149508	0.18729	0.12834299	0.30879	0.08149508	0.18729	0.12834299	0.30878	-3.999	0.23789	T	.	.	0.122	0.25364	B	.	.	1.722228	0.21927	15.41	0.99824631958357912	0.90677	0.35993	0.25431	N	AEFDBI	0.065033	0.12662	N	-0.709333535591486	0.15758	0.7970068	-0.707749686166026	0.16767	0.8885786	0.00176535619173559	0.08861	0.516011	0.20929	0	0.610034	0.51514	0	0.563428	0.18855	0	0.530356	0.10902	0	.	.	4.41	2.64	0.30504	1.255000	0.32512	1.631000	0.27739	-0.186000	0.09761	0.088000	0.22533	0.006000	0.19429	0.249000	0.23237	0.2046:0.0:0.7954:0.0	7.159	0.24831	624	0.65661	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.3	211.99	40	chr6	27310582	.	G	A	211.99	.	AC=3;AF=0.3;AN=10;BaseQRankSum=-1.57;DP=369;ExcessHet=1.383;FS=204.346;MLEAC=4;MLEAF=0.4;MQ=60;MQRankSum=0;QD=1;ReadPosRankSum=0.534;SOR=8.222	GT:AD:DP:GQ:PL	0/1:74,25:102:99:103,0,1314	2	0	3	2
chr6	30552590	30552590	C	T	exonic	GNL1	.	nonsynonymous SNV	GNL1:NM_005275:exon8:c.G976A:p.E326K	.	415	1060	42	5	0	52	0.0239411	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	.	0.0048	0.00638978	0.0074	0.0013	0.0049	0.0009	0.0011	0.0075	0.0056	0.0188	0.0070892	1096	154602	rs142398523	0.0071	0.0071	0.0066	0.0076	0.0439	0.0070	0.0069	0.0394	0.0377	0.0012	0.0057	0.0241	0.0005	0.0006	0.0439	0.0063	0.0090	0.0177	0.0052	0.0052	0.0052	0.0052	0.0141	0.0049	0.0048	0.0114	0.0104	0.0016	0	0.0059	0.0213	0.0015	0.0003	0.0340	0.0064	0.0142	0.0141	0.03	0.45393	D	0.019	0.59159	D	0.816	0.45573	P	0.227	0.38084	B	0.000482	0.43931	D	0.228733	0.999965	0.52935	D	1.845	0.48678	L	0.83	0.47815	T	-1.34	0.33401	N	0.426	0.46555	-1.0722	0.08936	T	0.035	0.15204	T	10	0.00442791	0.00090	T	.	.	.	0.132	0.35948	.	.	0.489576071459	0.48589	0.5364240969637265	0.53567	0.797786446455	0.66110	0.620034217834	0.55734	T	0.030408	0.21564	T	-0.402093	0.02244	T	-0.336075	0.40788	T	0.0221171863396322	0.00922	T	.	.	.	0.12927033	0.30197	0.23784553	0.49092	0.12927033	0.30197	0.23784553	0.49091	-7.849	0.60036	D	.	.	0.121	0.25166	B	.	.	3.627262	0.51366	23.1	0.99848947588688486	0.92838	0.94875	0.62633	D	AEFBHCI	0.752370	0.69289	D	0.0422544859961242	0.43786	2.664846	0.195451800292939	0.49595	3.161001	0.999999999755625	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.95	4.95	0.64894	6.329000	0.72876	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.0:1.0:0.0:0.0	17.317	0.87113	814	0.42100	Circularly permuted (CP)-type guanine nucleotide-binding (G) domain	.	.	.	.	rs142398523	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	0.026688	0.055556	0.027174	0.031915	0.000000	0.017241	0.003049	0.018939	0.07143	996.49	33	chr6	30552590	.	C	T	996.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.34;DP=278;ExcessHet=0;FS=2.764;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.49;ReadPosRankSum=-1.056;SOR=1.05	GT:AD:DP:GQ:PL	0/1:55,40:95:99:1007,0,1197	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|1:234,187:421:99:0|1:30986907_G_C:6742,0,9084:30986907	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	0/1:227,195:423:99:7344,0,9045	5	0	2	0
chr6	31271148	31271148	C	T	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon3:c.G544A:p.A182T,HLA-C:NM_002117:exon3:c.G544A:p.A182T	.	1	1353	168	0	0	168	0.0584551	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	.	0.0240	.	0.0430	0.0121	0.1132	0.0579	0.0499	0.0394	0.0507	0.0168	0.03368	5207	154602	rs141142418	0.0006	0.0028	0.0006	0.0007	0.0011	0.0006	0.0006	0.0006	0.0005	0.0003	0.0008	0.0135	0.0001	0.0008	0.0011	0.0004	0.0009	0.0008	1.469e-05	0.0021	2.82e-05	0	2.718e-05	0	0	.	.	0	0	0	0	0	0	0	2.718e-05	0	0	0.047	0.40319	D	0.121	0.35970	T	0.822	0.45767	P	0.419	0.45047	B	0.795036	0.06734	U	1.179000	1	0.08975	N	.	.	.	5.66	0.00776	T	-0.89	0.24026	N	0.015	0.00181	-0.9671	0.37794	T	0.053	0.22501	T	10	0.0028352141	0.00045	T	.	.	.	0.119	0.33137	.	.	.	.	0.07332682000125977	0.07269	0.70685437836	0.61463	0.316008090973	0.12816	T	0.037375	0.24453	T	-0.522055	0.00428	T	-0.503075	0.22029	T	0.0104027637738938	0.00143	T	0.0633937	0.00461	T	.	.	.	.	.	.	.	.	-6.365	0.49236	T	.	.	0.098	0.18206	B	.;.;.	.;.;.	1.362665	0.17716	13.33	0.98029197626042341	0.37697	0.01653	0.05307	N	AEFGBHCI	0.078452	0.15829	N	-0.785009583433136	0.13700	0.6767906	-1.04354844085745	0.08841	0.4367424	0.999999235206876	0.74766	0.766844	0.99359	0	0.672317	0.65289	0	0.851219	0.99655	0	0.638787	0.57140	0	.	.	2.81	-2.58	0.05866	-1.307000	0.02841	.	.	-0.270000	0.06752	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.1642:0.2513:0.162:0.4225	0.915	0.01221	934	0.15400	MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains;MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains;MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains	.	.	.	.	.	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	0.054595	0.055556	0.063859	0.009709	0.100000	0.077586	0.064417	0.041667	0.07143	1250.44	127	chr6	31271148	.	C	T	1250.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-3.454;DP=921;ExcessHet=0;FS=1.165;MLEAC=1;MLEAF=0.071;MQ=51.91;MQRankSum=3.7;QD=6.22;ReadPosRankSum=-0.008;SOR=0.582	GT:AD:DP:GQ:PL	0/1:134,67:201:99:1261,0,4575	6	0	1	0
chr6	31271334	31271334	-	CC	exonic	HLA-C	.	frameshift insertion	HLA-C:NM_001243042:exon3:c.357_358insGG:p.Q120Gfs*32,HLA-C:NM_002117:exon3:c.357_358insGG:p.Q120fs	.	2	1358	160	1	1	163	0.0562891	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0037	0.0069	0.0046	0.0016	0.0007	0.0034	0.0049	0.0049	0.001921	50	26028	rs748394002	0.0001	0.0010	0.0001	0.0001	0.0008	9.76e-05	9.07e-05	0.0002	0.0002	5.481e-05	0.0001	0.0005	0.0003	6.819e-05	0.0008	8.739e-05	0.0001	0.0003	1.492e-05	0.0003	0	3.118e-05	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0013	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	1799.2	34	chr6	31271334	.	G	GCC	1799.2	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-1.242;DP=407;ExcessHet=0.3476;FS=1.388;MLEAC=2;MLEAF=0.143;MQ=58.32;MQRankSum=-0.398;QD=12.76;ReadPosRankSum=0;SOR=0.576	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:84,48:132:99:0|1:31271334_G_GCC:1661,0,3351:31271334	5	0	2	0
chr6	31271337	31271338	GG	-	exonic	HLA-C	.	frameshift deletion	HLA-C:NM_001243042:exon3:c.354_355del:p.L119Pfs*19,HLA-C:NM_002117:exon3:c.354_355del:p.T118fs	.	27	1333	161	1	0	163	0.0576175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0037	0.0067	0.0047	0.0016	0.0007	0.0034	0.0050	0.0050	0.001921	50	26028	rs778339286	0.0001	0.0010	0.0001	0.0001	0.0008	9.287e-05	8.672e-05	0.0002	0.0001	5.51e-05	0.0001	0.0005	0.0003	6.851e-05	0.0008	8.505e-05	0.0001	0.0003	1.517e-05	0.0003	0	3.171e-05	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0013	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	1802.2	32	chr6	31271336	.	AGG	A	1802.2	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-1.242;DP=404;ExcessHet=0.3476;FS=0.66;MLEAC=2;MLEAF=0.143;MQ=58.44;MQRankSum=-0.512;QD=12.87;ReadPosRankSum=0.816;SOR=0.592	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:84,48:132:99:0|1:31271334_G_GCC:1661,0,3357:31271334	5	0	2	0
chr6	31271337	31271337	G	0	exonic	HLA-C	.	.	.	.	86	537	715	64	120	963	0.43975	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	2168.03	33	chr6	31271337	.	G	*	2168.03	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.369;DP=409;ExcessHet=4.7409;FS=1.991;MLEAC=2;MLEAF=0.143;MQ=58.21;MQRankSum=0.259;QD=6.78;ReadPosRankSum=-1.354;SOR=0.84	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:84,48:132:99:0|1:31271334_G_GCC:1661,0,3357:31271334	5	0	2	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|1:133,11:144:62:0|1:31355338_T_C:62,0,5500:31355338	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|1:58,21:79:99:0|1:31356711_C_CGGAG:667,0,2372:31356711	5	0	2	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|1:105,22:127:99:0|1:31625601_T_C:311,0,3835:31625601	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|1:106,22:128:99:0|1:31625601_T_C:308,0,3863:31625601	0	0	4	3
chr6	31637239	31637239	T	C	exonic	PRRC2A	.	nonsynonymous SNV	PRRC2A:NM_004638:exon30:c.T6248C:p.F2083S,PRRC2A:NM_080686:exon30:c.T6248C:p.F2083S	.	411	1024	80	7	0	94	0.0438842	.	.	.	3221664	PRRC2A-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.107	.	0.0060	0.00838658	0.0105	0.0066	0.0089	0.0014	0.0014	0.0098	0.0149	0.0250	0.0100128	1548	154602	rs35595439	0.0099	0.0099	0.0093	0.0105	0.0980	0.0098	0.0097	0.0913	0.0886	0.0064	0.0100	0.0241	0.0009	0.0009	0.0980	0.0087	0.0136	0.0245	0.0085	0.0085	0.0084	0.0086	0.0176	0.0081	0.0079	0.0146	0.0135	0.0064	0	0.0119	0.0236	0.0023	0.0007	0.0782	0.0087	0.0203	0.0176	0.009	0.57480	D	0.037	0.51737	D	0.99	0.63424	D	0.676	0.53321	P	0.037848	0.24353	N	0.374635	0.994293	0.42229	D	0.805	0.20218	L	4.59	0.01885	T	-0.02	0.07299	N	0.684	0.69037	-0.6465	0.62866	T	0.006	0.01907	T	10	0.0058432817	0.00130	T	.	.	.	0.107	0.30369	.	.	.	.	0.36497003574382164	0.36411	0.278578728581	0.30341	0.594195008278	0.52086	T	0.006049	0.05488	T	-0.447984	0.01161	T	-0.39735	0.33694	T	0.0174964733769842	0.00485	T	0.727827	0.34232	T	0.15795542	0.35562	0.16183853	0.37623	0.15795542	0.35562	0.16183853	0.37622	-1.277	0.01365	T	.	.	0.381	0.58464	A	.;.	.;.	3.781721	0.54376	23.5	0.98768474912641135	0.45924	0.93029	0.57147	D	AEFDBHCI	0.674946	0.64050	D	0.358168924707542	0.59173	4.094471	0.416011924713983	0.62563	4.473676	0.99999993239348	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	5.63	5.63	0.86108	2.432000	0.44442	.	.	0.639000	0.52094	1.000000	0.71638	1.000000	0.68203	0.531000	0.29730	0.0:0.0:0.0:1.0	13.654	0.61799	884	0.28482	.;.	STK19|STK19B|LY6G5B|STK19B|TNXA|STK19B|STK19B|STK19|STK19B|LY6G5B|LY6G5C|STK19B|STK19B|LY6G5B|STK19B|POU5F1|STK19B|MPIG6B|STK19|STK19B|POU5F1|STK19B|LY6G5B|STK19B|LY6G5B|LY6G5B|STK19|LST1|PRRC2A|LY6G5B|STK19|STK19B|STK19|STK19B|STK19B|STK19B|NELFE|LY6G5B|LY6G5C|STK19|STK19B|C4B|CYP21A2|AIF1|LY6G5C|STK19B	Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Nucleus_accumbens_basal_ganglia|Brain_Nucleus_accumbens_basal_ganglia|Breast_Mammary_Tissue|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood	STK19|STK19B|STK19|STK19B|STK19|STK19B|STK19B|STK19|STK19B|STK19|STK19B|STK19|STK19B|STK19|STK19B|STK19|STK19B|STK19|STK19B|STK19|STK19B|STK19|STK19B|MSH5	Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Breast_Mammary_Tissue|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Left_Ventricle|Heart_Left_Ventricle|Nerve_Tibial|Nerve_Tibial|Prostate|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis	rs115912333	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	0.059368	0.116162	0.059783	0.127660	0.200000	0.077586	0.012195	0.030303	0.1429	2019.24	37	chr6	31637239	.	T	C	2019.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.732;DP=376;ExcessHet=0.3476;FS=7.328;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=13.64;ReadPosRankSum=0;SOR=0.38	GT:AD:DP:GQ:PL	0/1:62,76:138:99:1924,0,1687	5	0	2	0
chr6	31710176	31710176	G	A	exonic	LY6G6F;LY6G6F-LY6G6D	.	nonsynonymous SNV	LY6G6F:NM_001003693:exon4:c.G797A:p.G266D,LY6G6F-LY6G6D:NM_001353334:exon4:c.G797A:p.G266D	.	423	1017	75	7	0	89	0.0419218	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	.	0.0060	0.00838658	0.0106	0.0071	0.0094	0.0014	0.0014	0.0098	0.0139	0.0253	0.0101422	1568	154602	rs61740977	0.0100	0.0100	0.0094	0.0106	0.0983	0.0099	0.0098	0.0916	0.0889	0.0066	0.0103	0.0241	0.0009	0.0009	0.0983	0.0087	0.0136	0.0245	0.0086	0.0086	0.0085	0.0087	0.0176	0.0082	0.0080	0.0146	0.0135	0.0066	0	0.0119	0.0236	0.0023	0.0007	0.0748	0.0088	0.0213	0.0176	0.792	0.18061	T	0.67	0.06305	T	0.0	0.02946	B	0.001	0.04355	B	0.940953	0.08354	N	0.971401	1	0.08975	N	1.385	0.34509	L	2.36	0.16089	T	-0.77	0.26200	N	0.134	0.13055	-0.9108	0.46756	T	0.005	0.01725	T	10	0.0036507547	0.00067	T	.	.	.	0.024	0.04979	.	.	.	.	0.17638048354673985	0.17557	0.0973658497453	0.21457	0.23227712512	0.02141	T	0.002959	0.02360	T	-0.691932	0.00041	T	-0.747765	0.03574	T	0.00386979524127015	0.00041	T	0.379462	0.09138	T	0.04546819	0.07448	0.08063304	0.18256	0.04546819	0.07448	0.08063304	0.18256	-4.892	0.35645	T	.	.	0.107	0.19958	B	.;.	.;.	0.522969	0.08917	5.698	0.70296732587708188	0.09250	0.01871	0.05765	N	AEFGBI	0.059164	0.11153	N	-1.55622397157654	0.01499	0.06542969	-1.50119969325627	0.02335	0.1072508	0.999911762167869	0.45857	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.25	-0.08	0.13042	0.206000	0.17174	.	.	-0.179000	0.10443	0.009000	0.18154	0.010000	0.20010	0.146000	0.20164	0.353:0.0:0.5128:0.1342	5.858	0.17980	889	0.27310	.;.	STK19|STK19B|LY6G5B|STK19B|TNXA|STK19B|STK19B|STK19|STK19B|LY6G5B|LY6G5C|STK19B|STK19B|LY6G5B|STK19B|POU5F1|STK19B|MPIG6B|STK19|STK19B|POU5F1|STK19B|LY6G5B|STK19B|LY6G5B|LY6G5B|STK19|LST1|PRRC2A|LY6G5B|STK19|STK19B|STK19|STK19B|STK19B|STK19B|NELFE|LY6G5B|LY6G5C|STK19|STK19B|C4B|CYP21A2|AIF1|LY6G5C|STK19B	Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Nucleus_accumbens_basal_ganglia|Brain_Nucleus_accumbens_basal_ganglia|Breast_Mammary_Tissue|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood	STK19|STK19B|STK19|STK19B|STK19|STK19B|STK19B|STK19|STK19B|STK19|STK19B|STK19|STK19B|STK19|STK19B|STK19|STK19B|STK19|STK19B|STK19|STK19B|STK19|STK19B|MSH5	Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Breast_Mammary_Tissue|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Left_Ventricle|Heart_Left_Ventricle|Nerve_Tibial|Nerve_Tibial|Prostate|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis	rs116179487	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	0.059368	0.126263	0.057065	0.127660	0.200000	0.078947	0.012195	0.030303	0.07143	1247.83	36	chr6	31710176	.	G	A	1247.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-4.599;DP=253;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=17.58;ReadPosRankSum=-1.313;SOR=0.813	GT:AD:DP:GQ:PL	0/1:25,46:71:99:1258,0,738	6	0	1	0
chr6	32081412	32081412	C	T	exonic	TNXB	.	nonsynonymous SNV	TNXB:NM_001365276:exon10:c.G3998A:p.R1333H,TNXB:NM_019105:exon10:c.G3998A:p.R1333H	Ehlers-Danlos syndrome due to tenascin X deficiency, Autosomal recessive;Vesicoureteral reflux 8, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.0121616376251	.	0.000199681	4.357e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs534979105	3.578e-06	8.893e-06	2.822e-06	4.356e-06	2.764e-05	1.05e-06	7.6e-07	7.4e-07	2.1e-07	0	0	3.965e-05	2.764e-05	0	0	2.783e-06	0	0	2.627e-05	2.625e-05	1.285e-05	4.031e-05	0.0002	8.14e-06	5.14e-06	.	.	2.408e-05	0	6.535e-05	0	0	0	0	1.47e-05	0	0.0002	0.632	0.05121	T	0.557	0.09205	T	.	.	.	.	.	.	0.919605	0.08496	N	0.950594	1	0.08975	N	.	.	.	0.4	0.57261	T	-1.18	0.30140	N	0.052	0.02366	-1.0105	0.26760	T	0.015	0.05897	T	10	0.0418213	0.02873	T	0.012162	0.30482	T	0.080	0.23350	0.512	0.61000	0.0934897674506	0.08844	.	.	.	.	0.283893436193	0.08041	T	0.040959	0.25698	T	-0.277098	0.10978	T	-0.635809	0.09978	T	0.043123153827769	0.04260	T	0.39886	0.26349	T	0.04024823	0.05709	0.036240485	0.03030	0.04024823	0.05709	0.036240485	0.03030	-5.397	0.40891	T	0.12497254194179234	0.12352	0.077	0.09143	B	.;.;.;.	.;.;.;.	-0.083658	0.03738	0.774	0.8878796392071886	0.18255	0.02307	0.06626	N	ALL	0.051876	0.09206	N	-1.27569412926132	0.03970	0.1783375	-1.24312113824883	0.05234	0.2488853	0.999999999999998	0.74766	0.700653	0.57754	0	0.610034	0.51514	0	0.717052	0.78885	0	0.562822	0.20929	0	.	.	5.33	-5.34	0.02496	-1.115000	0.03401	.	.	-0.187000	0.09635	0.000000	0.06391	0.000000	0.08366	0.137000	0.19835	0.2145:0.1343:0.107:0.5442	1.760	0.02810	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;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	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	365.63	35	chr6	32081412	.	C	T	365.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.566;DP=221;ExcessHet=0;FS=1.21;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.31;ReadPosRankSum=-1.344;SOR=0.415	GT:AD:DP:GQ:PL	0/1:32,18:50:99:376,0,875	6	0	1	0
chr6	32192154	32192154	G	C	exonic	GPSM3	.	nonsynonymous SNV	GPSM3:NM_001276501:exon2:c.C139G:p.H47D,GPSM3:NM_022107:exon6:c.C139G:p.H47D	.	410	1060	48	4	0	56	0.0257353	.	.	.	699536	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.023	.	0.0073	0.0061901	0.0066	0.0098	0.0060	0.0012	0.0013	0.0069	0.0091	0.0108	0.0058925	911	154602	rs148125791	0.0067	0.0066	0.0064	0.0069	0.0808	0.0066	0.0065	0.0744	0.0718	0.0087	0.0067	0.0203	0.0008	0.0015	0.0808	0.0060	0.0089	0.0117	0.0070	0.0070	0.0068	0.0072	0.0091	0.0067	0.0065	0.0080	0.0077	0.0088	0	0.0076	0.0179	0.0017	0.0011	0.0680	0.0059	0.0180	0.0091	0.084	0.32929	T	0.831	0.03852	T	0.001	0.07471	B	0.004	0.10090	B	0.356866	0.13730	U	0.619103	0.788139	0.29257	N	0.805	0.20218	L	.	.	.	0.09	0.06138	N	0.304	0.42050	-1.0233	0.22638	T	0.025	0.10553	T	9	0.004505217	0.00093	T	.	.	.	0.023	0.04649	.	.	0.043077524339	0.03247	0.20364634683512572	0.20281	0.62489570063	0.56679	0.689792633057	0.65676	T	0.013766	0.11844	T	-0.486729	0.00677	T	-0.461541	0.26431	T	0.0015793075113103	0.00016	T	0.59504	0.22051	T	0.07228547	0.16068	0.070643276	0.15035	0.07228547	0.16067	0.070643276	0.15034	-2.883	0.08974	T	.	.	0.097	0.15921	B	.;.;.	.;.;.	1.395790	0.18093	13.54	0.54812258607588749	0.05213	0.28990	0.23703	N	AEFDBHCI	0.298807	0.40802	N	-0.977740949507368	0.09080	0.4283037	-0.945021066886185	0.11039	0.5599214	0.999999359385914	0.74766	0.489673	0.17934	0	0.52208	0.09955	0	0.584781	0.30282	0	0.662433	0.64102	0	.	.	2.69	1.81	0.24139	0.980000	0.29111	.	.	-0.191000	0.09375	0.048000	0.21332	0.426000	0.24831	0.823000	0.38780	0.0:0.0:0.7268:0.2732	6.930	0.23615	934	0.15400	.;.;.	.	.	.	.	rs148125791	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	0.046601	0.092784	0.044837	0.118280	0.100000	0.068966	0.009146	0.015152	0.1429	1214.24	33	chr6	32192154	.	G	C	1214.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0;DP=258;ExcessHet=0.3476;FS=0.797;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=13.34;ReadPosRankSum=0.221;SOR=0.593	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:41,45:86:99:0|1:32192154_G_C:1111,0,1561:32192154	5	0	2	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|1:2,125:127:99:1|1:32584151_G_A:5525,312,0:32584151	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|1:2,125:127:99:1|1:32584151_G_A:5525,312,0:32584151	0	6	1	0
chr6	32584318	32584318	C	0	exonic	HLA-DRB1	.	.	.	.	12	1221	160	8	121	297	0.0672269	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	125.91	319	chr6	32584318	.	C	*	125.91	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.92;DP=2065;ExcessHet=0.3476;FS=11.107;MLEAC=1;MLEAF=0.071;MQ=53.72;MQRankSum=0.921;QD=0.31;ReadPosRankSum=3.71;SOR=0.953	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:145,151:394:99:.:.:5904,0,5634:.	6	0	1	0
chr6	32584353	32584353	C	0	exonic;splicing	HLA-DRB1;HLA-DRB1	NM_001243965:exon2:c.101-1G>0	.	.	.	171	315	497	500	39	1536	0.703808	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	78167.9	323	chr6	32584353	.	C	*	78167.9	.	AC=2;AF=0.143;AN=14;DP=1927;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=53.08;QD=30.56;SOR=1.399	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,60:177:99:0|1:32584353_C_A:7337,4912,5446:32584353	5	0	2	0
chr6	32584354	32584354	C	0	exonic;splicing	HLA-DRB1;HLA-DRB1	NM_001243965:exon2:c.101-2G>0	.	.	.	175	338	454	378	177	1387	0.641569	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	74248.9	319	chr6	32584354	.	C	*	74248.9	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.398;DP=1895;ExcessHet=0;FS=5.338;MLEAC=2;MLEAF=0.143;MQ=52.97;MQRankSum=6.13;QD=30.75;ReadPosRankSum=-3.634;SOR=1.324	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:37,51:164:99:.:.:3600,1668,3908:.	5	0	2	0
chr6	32589684	32589684	A	G	exonic	HLA-DRB1	.	nonsynonymous SNV	HLA-DRB1:NM_002124:exon1:c.T59C:p.M20T	.	1	1193	328	0	0	328	0.120855	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	.	.	.	0.0009	0.0026	0	0	0.0002	0.0012	0.0011	0.0004	0.0042646	111	26028	rs35053532	0.0006	0.0073	0.0006	0.0007	0.0022	0.0006	0.0006	0.0017	0.0016	0.0005	0.0009	0.0017	0.0008	0.0006	0.0022	0.0005	0.0008	0.0020	0.0010	0.0084	0.0014	0.0007	0.0018	0.0009	0.0008	0.0012	0.0011	0.0005	0.0033	0.0007	0.0032	0.0018	0	0	0.0015	0	0.0004	0.015	0.52492	D	0.163	0.31125	T	0.049	0.22227	B	0.034	0.22546	B	0.130685	0.02806	N	1.753860	0.999999	0.08975	N	.	.	.	8.43	0.00232	T	-2.54	0.55025	D	0.351	0.39254	-0.9412	0.42426	T	0.000	0.00075	T	10	0.023282856	0.00605	T	.	.	.	0.077	0.22490	.	.	0.370240404367	0.36630	0.4121927582371236	0.41135	0.84044661693	0.68037	.	.	.	0.009999	0.09062	T	-0.155507	0.27453	T	-0.461152	0.26474	T	0.0196228360865429	0.00665	T	0.529047	0.17505	T	0.35031834	0.57092	0.4314815	0.66765	0.35031834	0.57092	0.4314815	0.66765	-2.481	0.05653	T	.	.	0.110	0.21353	B	.	.	2.014600	0.25599	16.82	0.8036740669395388	0.13170	0.04417	0.10008	N	ALL	0.194190	0.32128	N	-0.683751231317595	0.16484	0.8402923	-0.710060751366673	0.16710	0.8852588	0.99999996150014	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.584781	0.30282	0	0.687789	0.68303	1	.	.	4.4	2.05	0.25860	1.398000	0.34163	.	.	0.750000	0.87069	0.802000	0.29747	0.000000	0.08366	0.027000	0.12703	0.7604:0.0:0.2396:0.0	5.311	0.15141	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	0.016507	0.035354	0.010870	0.034188	0.050000	0.000000	0.021341	0.007576	0.1429	4499.24	135	chr6	32589684	.	A	G	4499.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.269;DP=1110;ExcessHet=0.3476;FS=1.195;MLEAC=2;MLEAF=0.143;MQ=47.67;MQRankSum=1.39;QD=10.49;ReadPosRankSum=0.98;SOR=0.791	GT:AD:DP:GQ:PL	0/1:292,126:418:99:4412,0,11882	5	0	2	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	1|0:0,31:55:99:0|1:32641462_G_*:2309,1008,914:32641462	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	1|0:0,30:54:99:0|1:32641462_G_*:2447,1020,917:32641462	0	2	5	0
chr6	32641522	32641522	A	G	exonic	HLA-DQA1	.	nonsynonymous SNV	HLA-DQA1:NM_002122:exon2:c.A295G:p.M99V	.	497	607	54	19	345	437	0.0704441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	.	.	.	0.0057	0.0025	0.0088	0.0053	0.0084	0.0066	0.0016	0.0024	0.0058783	153	26028	rs1064944	4.039e-05	0.0068	3.94e-05	4.138e-05	0.0002	2.98e-05	2.601e-05	9.923e-05	6.79e-05	0	5.25e-05	0.0002	0.0002	0	0	3.331e-05	0.0001	0	0	0.0073	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.116	0.29688	T	0.158	0.31629	T	.	.	.	.	.	.	0.417235	0.04626	U	1.376450	1	0.08975	N	.	.	.	5.87	0.00635	T	-1.45	0.35792	N	0.057	0.05670	-0.9197	0.45594	T	0.000	0.00152	T	10	0.004614234	0.00096	T	.	.	.	0.044	0.11924	.	.	.	.	0.34569313513656585	0.34483	0.852731849783	0.68618	0.289853215218	0.08902	T	0.017806	0.14461	T	-0.715283	0.00030	T	-0.656411	0.08510	T	0.0132995924044953	0.00238	T	0.206079	0.02437	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.25753	B	.;.;.;.	.;.;.;.	-4.065667	0.00001	0.001	0.34440312666605133	0.02107	0.00388	0.01954	N	AEFGBHCI	0.200916	0.32762	N	-2.37503005817049	0.00031	0.001328335	-2.55582823607075	0.00017	0.0007554368	1.0	0.98316	0.627647	0.40530	0	0.672317	0.65289	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.97	-7.95	0.01015	-12.340000	0.00003	.	.	-5.452000	0.00010	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3982:0.2011:0.1237:0.2771	0.888	0.01170	940	0.13648	MHC class II, alpha chain, N-terminal|MHC class II, alpha chain, N-terminal;MHC class II, alpha chain, N-terminal|MHC class II, alpha chain, N-terminal;MHC class II, alpha chain, N-terminal|MHC class II, alpha chain, N-terminal;MHC class II, alpha chain, N-terminal|MHC class II, alpha chain, N-terminal	.	.	.	.	rs1064944	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	4857.75	64	chr6	32641522	.	A	G	4857.75	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0;DP=915;ExcessHet=2.5225;FS=6.106;MLEAC=1;MLEAF=0.071;MQ=58.2;MQRankSum=0;QD=5.32;ReadPosRankSum=1.36;SOR=1.094	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:0,63:124:99:.:.:5248,2126,1817:.	6	0	1	0
chr6	32664869	32664869	G	T	exonic	HLA-DQB1	.	nonsynonymous SNV	HLA-DQB1:NM_001243961:exon2:c.C308A:p.T103N,HLA-DQB1:NM_002123:exon2:c.C308A:p.T103N	.	47	1413	29	33	0	95	0.0325231	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.00320934890791	.	.	0.0036	0.0038	0.0016	0.0012	0.0020	0.0031	0.0049	0.0085	0.0130335	2015	154602	rs9274387	1.448e-05	0.0002	1.473e-05	1.424e-05	0.0003	8.4e-06	6.57e-06	3.1e-06	2.04e-06	0	0	0	0	0.0001	0.0003	8.631e-06	2.352e-05	0	8.846e-06	0.0004	0	1.827e-05	1.872e-05	0	0	.	.	0	0	0	0	0	0	0	1.872e-05	0	0	0.01	0.56456	D	0.224	0.25591	T	0.118	0.26577	B	0.253	0.39112	B	0.634068	0.10659	U	0.776971	1	0.08975	N	.	.	.	8.06	0.00308	T	-0.92	0.24676	N	0.064	0.03613	-0.9485	0.41228	T	0.001	0.00318	T	10	0.009080023	0.00205	T	0.003209	0.07057	T	0.158	0.41098	.	.	.	.	0.2784650380839335	0.27759	0.661283572157	0.58917	0.304967522621	0.11146	T	0.009157	0.08356	T	-0.18148	0.23516	T	-0.49846	0.22508	T	0.028743839315783	0.01798	T	0.240776	0.03459	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.139	0.39237	B	.;.;.;.	.;.;.;.	-1.656487	0.00214	0.003	0.96346439753286539	0.29499	0.00415	0.02058	N	ALL	0.101341	0.20356	N	-1.25150793438975	0.04280	0.1928499	-1.46237027539343	0.02660	0.1227418	0.9999999444672	0.74766	0.446893	0.09132	0	0.52208	0.09955	0	0.503968	0.08637	0	0.530356	0.10902	0	.	.	3.87	-2.53	0.05959	-9.210000	0.00017	.	.	-0.509000	0.05002	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.1676:0.3191:0.5133	6.882	0.23358	940	0.13648	MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, 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	.	.	.	.	.	.	.	.	0.2143	397.68	53	chr6	32664869	.	G	T	397.68	.	AC=3;AF=0.214;AN=14;BaseQRankSum=2.28;DP=691;ExcessHet=0;FS=1.379;MLEAC=3;MLEAF=0.214;MQ=51.82;MQRankSum=-3.234;QD=8.28;ReadPosRankSum=0.477;SOR=0.99	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:36,4:40:60:0|1:32664851_G_C:60,0,1500:32664851	5	1	1	0
chr6	32664917	32664917	C	A	exonic	HLA-DQB1	.	nonsynonymous SNV	HLA-DQB1:NM_001243961:exon2:c.G260T:p.R87L,HLA-DQB1:NM_002123:exon2:c.G260T:p.R87L	.	41	553	66	57	805	985	0.139969	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	.	.	.	0.0178	0.0094	0.0074	0.0044	0.0110	0.0123	0.0177	0.0613	0.0308211	4765	154602	rs1130380	0.0002	0.0028	0.0002	0.0002	0.0006	0.0001	0.0001	0.0005	0.0004	6.946e-05	7.264e-05	8.514e-05	0	0.0002	0.0004	0.0001	0.0001	0.0006	6.32e-05	0.0064	1.542e-05	0.0001	6.948e-05	3.113e-05	2.259e-05	2.321e-05	1.392e-05	2.998e-05	0	0	0.0010	0	0	0	6.948e-05	0	0	0.065	0.44029	T	0.021	0.58613	D	0.001	0.09854	B	0.004	0.10090	B	0.941407	0.08351	U	0.961307	0.979372	0.39555	D	.	.	.	7.87	0.00331	T	-5.88	0.88699	D	0.129	0.12341	-1.0646	0.10642	T	0.000	0.00039	T	10	0.003316313	0.00057	T	.	.	.	0.088	0.25558	.	.	.	.	0.3182965296469853	0.31742	0.691323969143	0.60588	0.299167692661	0.10277	T	0.017577	0.14314	T	-0.655468	0.00067	T	-0.649226	0.09008	T	0.02403772754452	0.01149	T	0.162684	0.01473	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.23219	B	.;.;.;.	.;.;.;.	1.177431	0.15679	12.02	0.80016420578156267	0.13006	0.03612	0.08845	N	ALL	0.215815	0.34113	N	-2.29836096021619	0.00046	0.001970145	-2.22797978748312	0.00097	0.004250061	0.999999969366938	0.74766	0.652421	0.48094	0	0.52208	0.09955	0	0.64067	0.45733	0	0.530356	0.10902	0	.	.	4.06	0.193	0.14419	0.297000	0.18856	.	.	-4.622000	0.00024	0.032000	0.20554	0.000000	0.08366	0.000000	0.00833	0.0:0.4718:0.2098:0.3184	5.435	0.15776	940	0.13648	MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, 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	.	.	.	.	.	.	.	.	0.3571	20647.3	120	chr6	32664917	.	C	A	20647.3	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-0.131;DP=1018;ExcessHet=4.7409;FS=1.742;MLEAC=5;MLEAF=0.357;MQ=59.02;MQRankSum=0;QD=20.5;ReadPosRankSum=0.072;SOR=0.685	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:101,24:125:99:0|1:32664911_T_G:704,0,4109:32664911	3	1	3	0
chr6	32664926	32664926	G	A	exonic	HLA-DQB1	.	nonsynonymous SNV	HLA-DQB1:NM_001243961:exon2:c.C251T:p.P84L,HLA-DQB1:NM_002123:exon2:c.C251T:p.P84L	.	20	1284	160	58	0	276	0.0970464	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	.	.	.	0.0182	0.0107	0.0076	0.0048	0.0114	0.0123	0.0151	0.0628	0.0296956	4591	154602	rs9274395	0.0003	0.0032	0.0003	0.0003	0.0011	0.0003	0.0003	0.0009	0.0008	7.464e-05	0.0002	0.0001	0	0.0003	0.0006	0.0003	0.0003	0.0011	0.0002	0.0078	0.0002	0.0002	0.0006	0.0001	0.0001	0.0001	7.089e-05	0.0002	0	0	0.0014	0	0	0.0046	0.0002	0	0.0006	0.069	0.40068	T	0.043	0.49942	D	0.052	0.22494	B	0.029	0.21540	B	0.099669	0.19922	U	0.369227	0.722216	0.33630	D	.	.	.	8.26	0.00269	T	-3.84	0.75058	D	0.15	0.15328	-0.9881	0.33077	T	0.001	0.00287	T	10	0.006448716	0.00146	T	.	.	.	0.119	0.33137	.	.	.	.	0.18514000446126433	0.18431	0.566269477264	0.52927	0.319175481796	0.13295	T	0.014743	0.12495	T	-0.159806	0.26790	T	-0.467326	0.25804	T	0.051758160492758	0.05806	T	0.0806919	0.00607	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.25656	B	.;.;.;.	.;.;.;.	1.397222	0.18105	13.55	0.99226900122916373	0.56089	0.07262	0.13285	N	ALL	0.271360	0.38723	N	-0.744876639371783	0.14773	0.7387562	-0.902920104954735	0.12025	0.6161842	0.999999967135338	0.74766	0.652421	0.48094	0	0.504199	0.08210	0	0.64067	0.45733	0	0.530356	0.10902	0	.	.	4.06	0.064	0.13666	-0.204000	0.09426	.	.	-0.499000	0.05024	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.0:0.5119:0.4881	10.579	0.44436	940	0.13648	MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal	.	.	.	.	rs9274395	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	4522.09	121	chr6	32664926	.	G	A	4522.09	.	AC=5;AF=0.357;AN=14;BaseQRankSum=2.97;DP=1022;ExcessHet=0.4813;FS=10.479;MLEAC=5;MLEAF=0.357;MQ=56.49;MQRankSum=-3.201;QD=13.42;ReadPosRankSum=-2.385;SOR=0.673	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:106,37:143:99:0|1:32664911_T_G:1235,0,4201:32664911	3	1	3	0
chr6	32666525	32666525	A	0	exonic	HLA-DQB1	.	.	.	.	0	4	73	139	10	361	0.977716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	16697.4	51	chr6	32666525	.	A	*	16697.4	.	AC=1;AF=0.083;AN=12;DP=445;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;QD=32.17;SOR=0.943	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:0,54:95:99:.:.:4029,1625,1440:.	5	0	1	1
chr6	33211285	33211285	G	A	exonic	RING1	.	nonsynonymous SNV	RING1:NM_002931:exon5:c.G583A:p.A195T	.	402	1104	16	0	0	16	0.00719424	.	.	.	2213135	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.072	0.0134455548713	0.0005	0.000998403	0.0009	0.0002	0.0015	0.0002	0	0.0010	0.0023	0.0009	0.0007503	116	154602	rs149445528	0.0007	0.0007	0.0006	0.0007	0.0111	0.0007	0.0006	0.0089	0.0081	0.0001	0.0011	0.0090	5.04e-05	0	0.0111	0.0005	0.0012	0.0006	0.0006	0.0007	0.0006	0.0007	0.0015	0.0005	0.0005	0.0010	0.0009	2.425e-05	0	0.0015	0.0081	0.0002	0	0.0034	0.0005	0.0009	0.0010	0.614	0.05404	T	0.783	0.04288	T	0.0	0.02946	B	0.001	0.04355	B	0.069904	0.21574	N	0.397179	0.944905	0.37467	D	0	0.06538	N	-1.75	0.83495	D	0.73	0.02068	N	0.156	0.16168	-1.0338	0.19236	T	0.133	0.44544	T	10	0.0042042136	0.00084	T	0.013446	0.32862	T	0.072	0.21020	.	.	0.377143385212	0.37329	0.12279097114794765	0.12205	0.549617653445	0.51857	0.731486678123	0.71723	T	0.040972	0.25705	T	-0.452123	0.01097	T	-0.472661	0.25230	T	0.00472563817380781	0.00051	T	.	.	.	0.042982373	0.06616	0.084812395	0.19538	0.042982373	0.06616	0.084812395	0.19538	-3.856	0.21644	T	.	.	0.066	0.02065	B	.	.	2.355580	0.30207	18.36	0.851505894610881	0.15716	0.57302	0.30341	D	AEFDBCI	0.090074	0.18254	N	-0.540804323890847	0.20772	1.097571	-0.391984423634195	0.25235	1.386541	0.998708718549784	0.37498	0.651	0.46895	0	0.606735	0.50208	0	0.723109	0.80598	0	0.683762	0.67416	0	.	.	4.33	1.29	0.20717	0.633000	0.24289	5.624000	0.49094	0.606000	0.46413	0.312000	0.25432	1.000000	0.68203	0.991000	0.66497	0.3937:0.0:0.6063:0.0	5.246	0.14813	712	0.56465	.	.	.	.	.	.	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	0.002729	0.000000	0.000000	0.005376	0.000000	0.000000	0.006135	0.007576	0.07143	797.83	35	chr6	33211285	.	G	A	797.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.957;DP=242;ExcessHet=0;FS=2.067;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.73;ReadPosRankSum=0.583;SOR=0.996	GT:AD:DP:GQ:PL	0/1:35,33:68:99:808,0,884	6	0	1	0
chr6	33304305	33304305	T	C	exonic	TAPBP	.	nonsynonymous SNV	TAPBP:NM_172209:exon4:c.A941G:p.E314G,TAPBP:NM_003190:exon5:c.A1202G:p.E401G,TAPBP:NM_172208:exon5:c.A1202G:p.E401G	Bare lymphocyte syndrome, type I, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.0185951811644	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1174407355	1.379e-06	2.736e-06	1.37e-06	1.389e-06	9.05e-07	2.3e-07	9e-08	.	.	0	0	0	0	0	0	9.05e-07	1.672e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	0.39097	T	0.005	0.72224	D	0.961	0.55431	D	0.494	0.47478	P	0.032025	0.25086	N	0.430498	0.972921	0.28810	N	.	.	.	2.22	0.18248	T	-2.56	0.57920	D	0.182	0.31027	-1.0183	0.24269	T	0.083	0.32556	T	10	0.2677787	0.44292	T	0.018595	0.40717	T	0.080	0.23350	0.48	0.55983	0.421920138742	0.41806	0.42454543123484895	0.42371	1.02953252697	0.75381	0.372900009155	0.21248	T	0.03452	0.23517	T	-0.188942	0.22413	T	-0.509178	0.21399	T	0.60816729839998	0.36726	D	0.873813	0.58316	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.259	0.53679	B	.;.;.;.	.;.;.;.	4.602438	0.72904	25.9	0.99726392794429597	0.82406	0.72264	0.35377	D	AEFDBCI	0.412406	0.48249	N	0.278896839076456	0.55079	3.672372	0.33415150180774	0.57558	3.921958	0.99995540562731	0.48110	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.57	4.42	0.52775	1.833000	0.38801	4.056000	0.41548	0.568000	0.28809	0.911000	0.31706	1.000000	0.68203	0.955000	0.50612	0.0:0.0947:0.0:0.9053	7.442	0.26358	649	0.63102	.;.;.;.	.	.	.	.	.	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	1324.44	35	chr6	33304305	.	T	C	1324.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.076;DP=316;ExcessHet=0;FS=1.406;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.19;ReadPosRankSum=-0.943;SOR=0.836	GT:AD:DP:GQ:PL	0/1:76,54:130:99:1335,0,1985	6	0	1	0
chr6	33723164	33723164	G	C	exonic	IP6K3	.	stopgain	IP6K3:NM_054111:exon6:c.C789G:p.Y263X,IP6K3:NM_001142883:exon7:c.C789G:p.Y263X	.	430	1090	2	0	0	2	0.00091659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.000199681	0.0002	0	0	0	0	0.0003	0	0	0.0001746	27	154602	rs149420602	0.0001	0.0001	8.408e-05	0.0001	0.0005	9.889e-05	9.358e-05	0.0001	0.0001	0	9.92e-05	0.0002	0	0	0.0005	0.0001	0.0002	0	9.848e-05	9.842e-05	8.993e-05	0.0001	0.0002	6.002e-05	4.876e-05	0.0001	7.894e-05	7.215e-05	0	0	0	0	0	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.721953	0.09927	N	0.878776	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.055	0.03283	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.308712	0.83648	D	0.507389	0.94782	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive|Recessive;Recessive|Recessive	High|High;High|High	7.719312	0.96795	36	0.99698435306912481	0.80453	0.82998	0.42155	D	AEFBHCI	0.389589	0.46875	N	0.582833279244353	0.72105	5.753411	0.419927020402046	0.62809	4.50258	0.909018937571613	0.26300	0.533608	0.22052	0	0.610034	0.51514	0	0.685742	0.62368	0	0.530356	0.10902	0	.	.	5.74	3.96	0.45097	0.481000	0.21969	0.751000	0.21237	-0.106000	0.15538	0.999000	0.42656	0.998000	0.33993	0.948000	0.49324	0.2123:0.1261:0.6616:0.0	7.075	0.24376	657	0.62240	.;.	.	.	.	.	.	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	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.000000	0.07143	533.83	20	chr6	33723164	.	G	C	533.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.68;DP=165;ExcessHet=0;FS=3.536;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.25;ReadPosRankSum=-0.264;SOR=1.483	GT:AD:DP:GQ:PL	0/1:17,18:35:99:544,0,424	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	0/1:73,32:105:39:39,0,1245	1	0	5	1
chr6	45941619	45941619	T	C	exonic	CLIC5	.	nonsynonymous SNV	CLIC5:NM_001114086:exon4:c.A811G:p.N271D,CLIC5:NM_001256023:exon4:c.A334G:p.N112D,CLIC5:NM_001370649:exon4:c.A217G:p.N73D,CLIC5:NM_016929:exon4:c.A334G:p.N112D,CLIC5:NM_001370650:exon5:c.A811G:p.N271D	.	431	1086	5	0	0	5	0.00229674	.	.	.	539001	not_provided|CLIC5-related_disorder|Autosomal_recessive_nonsyndromic_hearing_loss_103	MedGen:C3661900|.|MONDO:MONDO:0014469,MedGen:C4015050,OMIM:616042,Orphanet:90636	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.575	0.277535312664	.	0.00159744	0.0008	0	0.0003	0	0	0.0001	0	0.0049	0.0006533	101	154602	rs564438778	0.0004	0.0004	0.0002	0.0005	0.0051	0.0004	0.0004	0.0047	0.0045	2.987e-05	4.472e-05	0	0	0	0.0014	9.083e-05	0.0003	0.0051	0.0002	0.0002	0.0003	0.0002	0.0050	0.0002	0.0002	0.0034	0.0029	0	0	6.538e-05	0	0	0	0	0.0002	0	0.0050	0.041	0.41915	D	0.041	0.50514	D	0.076	0.24253	B	0.054	0.25828	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.945	0.84822	M	-3.22	0.93352	D	-4.58	0.78807	D	0.865	0.91162	0.415	0.89329	D	0.713	0.90148	D	10	0.01323691	0.00282	T	0.277535	0.90111	D	0.575	0.82799	.	.	0.966479415667	0.96611	0.908536658755391	0.90826	0.298502774148	0.32228	0.668010175228	0.62554	T	0.360909	0.72708	T	-0.164171	0.26120	T	-0.00764334	0.69838	D	0.14394016691814	0.16610	T	0.909209	0.68064	D	0.83107215	0.85977	0.68651754	0.81565	0.83107215	0.85978	0.68651754	0.81566	-10.971	0.81038	D	0.6682814794046622	0.74284	0.638	0.76805	P	.;.;.;.;.	.;.;.;.;.	4.086413	0.60831	24.3	0.99576763852848771	0.72742	0.97579	0.75677	D	AEFBI	0.961051	0.98212	D	0.175674627797205	0.50034	3.197329	0.284225795363938	0.54617	3.62626	0.999991418476479	0.74766	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.44	5.44	0.79348	6.208000	0.72099	7.844000	0.70656	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:0.0:0.0:1.0	14.491	0.67230	867	0.32089	.;Glutathione S-transferase, C-terminal-like;Glutathione S-transferase, C-terminal-like;Glutathione S-transferase, C-terminal-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	0.001521	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.003788	0.08333	615.27	32	chr6	45941619	.	T	C	615.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.82;DP=266;ExcessHet=0;FS=1.824;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.15;ReadPosRankSum=-1.364;SOR=0.507	GT:AD:DP:GQ:PL	0/1:56,30:86:99:625,0,1261	5	0	1	1
chr6	46688798	46688798	G	A	exonic	TDRD6	.	nonsynonymous SNV	TDRD6:NM_001010870:exon1:c.G670A:p.V224I,TDRD6:NM_001168359:exon1:c.G670A:p.V224I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.00319981183319	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1238525802	2.056e-06	2.052e-06	1.364e-06	2.755e-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	6.569e-06	6.566e-06	1.284e-05	0	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.424	0.10212	T	0.017	0.60337	D	0.255	0.31319	B	0.023	0.19966	B	0.519525	0.05194	N	1.327380	1	0.08975	N	1.15	0.29295	L	2.5	0.14408	T	-0.15	0.09297	N	0.028	0.01068	-0.9248	0.44886	T	0.009	0.03271	T	10	0.08951548	0.15512	T	0.003	0.07026	T	0.054	0.15330	0.385	0.40460	0.337135696972	0.33324	0.1370022793540823	0.13624	0.0259765826965	0.02653	0.337410897017	0.16050	T	0.026739	0.19723	T	-0.429177	0.01499	T	-0.854259	0.00908	T	0.0645290188541009	0.07862	T	0.490951	0.15096	T	0.023350459	0.01069	0.028559724	0.01103	0.023350459	0.01068	0.028559724	0.01103	-4.578	0.31894	T	.	.	0.083	0.09288	B	.;.	.;.	-0.366645	0.02340	0.252	0.81920073476731214	0.13927	0.33677	0.24886	N	AEFDBI	0.107282	0.21379	N	-0.834284100881299	0.12440	0.6063865	-0.839524854885157	0.13539	0.7029298	0.00606267996746944	0.11119	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	5.63	2.9	0.32809	-0.363000	0.07645	-0.021000	0.12925	-0.123000	0.13640	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1903:0.0:0.8097:0.0	11.124	0.47529	508	0.75398	.;.	.	.	.	.	.	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	1418.27	35	chr6	46688798	.	G	A	1418.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.406;DP=288;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.51;ReadPosRankSum=-0.42;SOR=0.729	GT:AD:DP:GQ:PL	0/1:50,55:105:99:1428,0,1289	5	0	1	1
chr6	47580870	47580870	A	G	exonic	CD2AP	.	nonsynonymous SNV	CD2AP:NM_012120:exon10:c.A1015G:p.K339E	Glomerulosclerosis, focal segmental, 3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.199	0.0212358317057	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.47320	D	0.004	0.74150	D	0.998	0.73220	D	0.973	0.72923	D	0.000017	0.62929	D	0.000000	0.999993	0.58761	D	3.205	0.89189	M	1.58	0.29085	T	-2.62	0.56301	D	0.502	0.53445	-0.8907	0.48873	T	0.123	0.42483	T	10	0.48073685	0.60415	T	0.021236	0.43978	T	0.199	0.48268	0.374	0.38667	0.643731182071	0.64078	0.3532681956058667	0.35240	0.482003060789	0.47171	0.559849858284	0.47247	T	0.424326	0.77479	T	-0.0102229	0.50235	T	-0.252461	0.49573	T	0.986831426620483	0.77457	D	0.829117	0.49388	T	0.38676724	0.59801	0.33913404	0.59682	0.38676724	0.59802	0.33913404	0.59681	-13.441	0.91098	D	0.6190578132976476	0.68726	0.704	0.73132	P	.	.	4.965491	0.82135	27.7	0.99873536381455275	0.95076	0.98548	0.83964	D	AEFBI	0.611084	0.59966	D	0.64833327306981	0.76262	6.453896	0.627884022154458	0.76972	6.590747	0.993065801957702	0.33071	0.732398	0.92422	0	0.708844	0.79440	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.42	5.42	0.78666	6.091000	0.71052	9.240000	0.79416	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	1.0:0.0:0.0:0.0	14.576	0.67846	447	0.79583	.	.	.	.	.	.	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	537.63	30	chr6	47580870	.	A	G	537.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.212;DP=223;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.43;ReadPosRankSum=0.072;SOR=0.655	GT:AD:DP:GQ:PL	0/1:31,26:57:99:548,0,647	6	0	1	0
chr6	52403967	52403967	A	G	exonic	PAQR8	.	nonsynonymous SNV	PAQR8:NM_133367:exon2:c.A754G:p.I252V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.00527960526329	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.978e-05	0.0024	1.833e-05	2.124e-05	2.524e-05	1.372e-05	1.181e-05	1.728e-05	1.481e-05	0	2.239e-05	0	0	0	0	2.524e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.006	0.13644	B	0.041	0.23986	B	0.000025	0.55875	D	0.115163	0.999832	0.49637	D	.	.	.	1.69	0.27032	T	0.18	0.05035	N	0.134	0.13055	-1.0252	0.22017	T	0.018	0.07518	T	9	0.10744271	0.19958	T	0.00528	0.13494	T	0.060	0.17295	0.488	0.57257	0.376393476264	0.37247	0.3401186203858187	0.33924	0.3389385424	0.35853	0.68097782135	0.64409	T	0.052677	0.29229	T	-0.214048	0.18812	T	-0.545242	0.17786	T	0.904308378696442	0.55774	D	0.813919	0.46746	T	0.07455341	0.16739	0.0980514	0.23362	0.07455341	0.16739	0.0980514	0.23362	-3.487	0.16251	T	.	.	0.198	0.42111	B	.;.	.;.	2.178607	0.27765	17.57	0.81419057112976168	0.13676	0.59864	0.31033	D	ALL	0.196894	0.32384	N	-0.163518393347399	0.34660	1.981109	0.0656923634619325	0.42836	2.598076	0.999999999628226	0.74766	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.64	5.64	0.86480	4.094000	0.57448	11.121000	0.86550	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	15.038	0.71424	718	0.55760	.;.	.	.	.	.	.	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	968.74	97	chr6	52403967	.	A	G	968.74	.	AC=3;AF=0.3;AN=10;BaseQRankSum=-0.58;DP=835;ExcessHet=1.1394;FS=134.601;MLEAC=4;MLEAF=0.4;MQ=60;MQRankSum=0;QD=1.66;ReadPosRankSum=1.7;SOR=9.269	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:184,26:210:99:0|1:52403967_A_G:155,0,6996:52403967	2	0	3	2
chr6	52403970	52403970	C	T	exonic	PAQR8	.	nonsynonymous SNV	PAQR8:NM_133367:exon2:c.C757T:p.L253F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.00630749574742	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.214	0.19361	T	0.098	0.39040	T	0.002	0.09854	B	0.03	0.21741	B	0.156625	0.17794	N	0.568363	0.978788	0.25225	N	.	.	.	1.35	0.34648	T	-1.54	0.37375	N	0.043	0.01740	-0.9995	0.30058	T	0.022	0.09421	T	9	0.07588753	0.11786	T	0.006307	0.16580	T	0.056	0.15993	0.404	0.43573	0.258283824007	0.25425	0.4649470711667506	0.46413	0.41020588675	0.41812	0.385233283043	0.22995	T	0.083781	0.37132	T	-0.242974	0.14973	T	-0.586792	0.13944	T	0.131729736924171	0.15541	T	0.726327	0.34071	T	0.0702468	0.15457	0.08061282	0.18250	0.0702468	0.15456	0.08061282	0.18250	-4.121	0.25599	T	.	.	0.102	0.17911	B	.;.	.;.	1.645479	0.20997	15.00	0.98230747167124433	0.39387	0.23460	0.22083	N	ALL	0.166227	0.29279	N	-0.569512802825605	0.19875	1.043656	-0.505190822221499	0.22012	1.193515	0.999999888871553	0.74766	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.64	0.156	0.14205	0.857000	0.27486	0.414000	0.18144	0.599000	0.40250	0.560000	0.27425	0.980000	0.30356	0.998000	0.85391	0.207:0.4109:0.2345:0.1476	2.509	0.04369	718	0.55760	.;.	.	.	.	.	.	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	477.85	92	chr6	52403970	.	C	T	477.85	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-5.226;DP=629;ExcessHet=0.3476;FS=208.652;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=1.33;ReadPosRankSum=2.02;SOR=7.941	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:184,26:210:99:0|1:52403967_A_G:155,0,6996:52403967	4	0	2	1
chr6	63684165	63684165	A	G	exonic	PHF3	.	nonsynonymous SNV	PHF3:NM_001370349:exon3:c.A179G:p.K60R,PHF3:NM_015153:exon3:c.A443G:p.K148R,PHF3:NM_001290260:exon4:c.A443G:p.K148R,PHF3:NM_001370348:exon4:c.A443G:p.K148R,PHF3:NM_001290259:exon5:c.A179G:p.K60R	.	426	1089	6	1	0	8	0.00365965	.	.	.	710576	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.185	.	0.0067	0.00319489	0.0094	0.0019	0.0030	0	0.0360	0.0113	0.0166	0.0046	0.008454	1307	154602	rs41271581	0.0087	0.0087	0.0087	0.0087	0.0158	0.0086	0.0085	0.0132	0.0122	0.0017	0.0033	0.0364	0	0.0305	0.0158	0.0079	0.0109	0.0045	0.0085	0.0085	0.0077	0.0093	0.0094	0.0081	0.0079	0.0088	0.0086	0.0019	0	0.0029	0.0360	0	0.0338	0.0204	0.0094	0.0095	0.0029	0.0	0.91255	D	0.047	0.92824	D	1.0	0.90584	D	0.996	0.88582	D	0.000849	0.41440	D	0.000000	0.999123	0.47157	D	0.55	0.14455	N	1.35	0.55439	T	-1.04	0.62343	N	0.463	0.62781	-0.5180	0.67989	T	0.264	0.63555	T	10	0.0066666007	0.00151	T	.	.	.	0.185	0.45933	.	.	0.562498043355	0.55911	0.17696823129763384	0.17615	0.304320638813	0.32741	0.687846422195	0.65397	T	0.064006	0.32323	T	-0.328064	0.06259	T	-0.231694	0.51608	T	0.0357205323042048	0.02932	T	0.855914	0.62461	D	0.33207276	0.55640	0.4021575	0.64706	0.33207276	0.55640	0.4021575	0.64706	-4.519	0.31136	T	.	.	0.211	0.43855	B	.;.;.;.;.;.	.;.;.;.;.;.	3.146585	0.42582	21.6	0.99560720080608101	0.71769	0.96941	0.71780	D	AEFBI	0.526529	0.54885	D	0.714361191167439	0.80572	7.324382	0.709548942371232	0.83103	7.934935	0.999999978180273	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.92	5.92	0.95557	4.431000	0.59660	9.317000	0.80010	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	16.360	0.83096	791	0.46100	.;.;.;.;.;.	.	.	.	.	.	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	0.018127	0.000000	0.029891	0.029240	0.000000	0.008621	0.012195	0.000000	0.08333	584.27	24	chr6	63684165	.	A	G	584.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.2;DP=203;ExcessHet=0;FS=1.056;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.9;ReadPosRankSum=-1.258;SOR=0.963	GT:AD:DP:GQ:PL	0/1:34,25:59:99:594,0,797	5	0	1	1
chr6	63711342	63711342	T	C	exonic	PHF3	.	nonsynonymous SNV	PHF3:NM_001370349:exon14:c.T3713C:p.L1238P,PHF3:NM_001370350:exon14:c.T1784C:p.L595P,PHF3:NM_015153:exon14:c.T3977C:p.L1326P,PHF3:NM_001370348:exon15:c.T3977C:p.L1326P,PHF3:NM_001290259:exon16:c.T3713C:p.L1238P	.	425	1094	3	0	0	3	0.00136924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.574	0.143661231128	.	.	8.38e-06	0	0	0	0	0	0	6.504e-05	6.5e-06	1	154602	rs745997010	2.058e-06	2.052e-06	1.365e-06	2.759e-06	1.801e-06	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	0	0	0	1.801e-06	1.662e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.002	0.79402	D	1.0	0.90584	D	0.999	0.92359	D	0.003118	0.35419	N	0.000000	1	0.81001	D	2.585	0.75554	M	0.04	0.62051	T	-6.46	0.91436	D	0.952	0.96072	-0.1967	0.77756	T	0.385	0.74054	T	10	0.8239075	0.81579	D	0.143661	0.82597	D	0.574	0.82742	0.617	0.75116	0.502047813367	0.49841	0.9050530001672079	0.90478	0.545405473843	0.51576	0.778288781643	0.78670	T	0.350686	0.71837	T	0.284874	0.81730	D	0.274369	0.86816	D	0.904712975025177	0.55825	D	0.939506	0.77228	D	0.92310077	0.93550	0.90671027	0.95455	0.92310077	0.93551	0.90671027	0.95455	-11.944	0.84577	D	.	.	0.998	0.97486	P	.;.;.	.;.;.	4.308988	0.65859	24.9	0.9991124323479551	0.98095	0.99311	0.94324	D	AEFBI	0.959253	0.97947	D	0.856519379512952	0.89477	9.987572	0.848702317667496	0.92940	11.72475	0.999999999955784	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	6.04	6.04	0.98025	7.962000	0.87458	7.890000	0.72998	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	16.576	0.84487	789	0.46346	Spen paralogue and orthologue SPOC, C-terminal;Spen paralogue and orthologue SPOC, C-terminal;Spen paralogue and orthologue SPOC, 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	500.83	15	chr6	63711342	.	T	C	500.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.674;DP=177;ExcessHet=0;FS=2.555;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.43;ReadPosRankSum=-0.664;SOR=1.2	GT:AD:DP:GQ:PL	0/1:29,19:48:99:511,0,827	6	0	1	0
chr6	73730508	73730508	G	C	exonic	CD109	.	nonsynonymous SNV	CD109:NM_001159587:exon4:c.G441C:p.K147N,CD109:NM_133493:exon4:c.G441C:p.K147N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.379	0.0681648577634	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.084	0.41239	T	0.86	0.47373	P	0.561	0.49582	P	0.000063	0.52346	D	0.121974	0.927278	0.81001	D	1.685	0.43254	L	-0.81	0.73949	T	-2.44	0.53420	N	0.728	0.72925	-0.6692	0.61865	T	0.262	0.63350	T	10	0.7706835	0.77057	D	0.068165	0.70373	D	0.379	0.69696	0.605	0.73706	0.523082183605	0.51953	0.6049376649993708	0.60424	0.201168129084	0.22514	0.572387576103	0.49016	T	0.021601	0.16792	T	-0.0225458	0.48490	T	-0.270162	0.47803	T	0.874607993844681	0.52447	D	0.816118	0.47137	T	0.098481365	0.23229	0.10561609	0.25393	0.098481365	0.23229	0.10561609	0.25393	-5.553	0.42361	T	.	.	0.362	0.57355	A	.;.	.;.	3.296886	0.45244	22.1	0.99709601027882977	0.81213	0.80641	0.40226	D	AEFBI	0.267169	0.38393	N	-0.137678238521975	0.35760	2.058186	-0.153565321349564	0.33271	1.901473	0.696490180756331	0.22647	0.706548	0.73137	0	0.633656	0.55848	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	4.27	1.32	0.20897	1.740000	0.37852	3.183000	0.36666	-0.887000	0.02411	1.000000	0.71638	1.000000	0.68203	0.833000	0.39279	0.3949:0.0:0.6051:0.0	7.443	0.26364	886	0.28090	.;Alpha-2-macroglobulin, 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	.	.	.	.	.	.	.	.	0.08333	66.25	75	chr6	73730508	.	G	C	66.25	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.463;DP=582;ExcessHet=0;FS=289.355;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=0.5;ReadPosRankSum=1.59;SOR=9.044	GT:AD:DP:GQ:PL	0/1:95,38:147:76:76,0,1698	5	0	1	1
chr6	80007992	80007996	GTTTT	-	exonic	TTK	.	stopgain	TTK:NM_001166691:exon3:c.323_327del:p.F109*,TTK:NM_003318:exon3:c.323_327del:p.F109*	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.0020	0.0005	0.0004	0.0005	0.0004	0.0004	0.0005	0.0005	0.0004	2.242e-05	0.0001	0.0001	0	0	0.0005	0.0004	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	2031.79	33	chr6	80007991	.	AGTTTT	A	2031.79	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.09;DP=229;ExcessHet=2.5225;FS=222.132;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.11;ReadPosRankSum=1.13;SOR=8.468	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:28,23:51:99:0|1:80007990_G_A:753,0,1062:80007990	6	0	1	0
chr6	80007996	80007996	-	CCCCC	exonic	TTK	.	frameshift insertion	TTK:NM_001166691:exon3:c.327_328insCCCCC:p.A110Pfs*7,TTK:NM_003318:exon3:c.327_328insCCCCC:p.A110Pfs*7	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	747.37	33	chr6	80007996	.	T	TCCCCC	747.37	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.639;DP=192;ExcessHet=3.1439;FS=221.982;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=4.85;ReadPosRankSum=0.399;SOR=8.468	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:27,23:50:99:0|1:80007990_G_A:756,0,1045:80007990	5	0	1	1
chr6	87088164	87088164	C	A	exonic	CGA	.	nonsynonymous SNV	CGA:NM_000735:exon2:c.G37T:p.V13F,CGA:NM_001252383:exon2:c.G37T:p.V13F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	0.00477432358254	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.198	0.27767	T	0.911	0.50336	P	0.391	0.44178	B	0.011028	0.29689	N	0.407958	0.924439	0.27215	N	1.385	0.34509	L	.	.	.	.	.	.	0.262	0.29659	-1.1057	0.03467	T	0.036	0.15683	T	9	0.22615334	0.39463	T	0.004774	0.11910	T	.	.	0.351	0.34922	0.384919354899	0.38110	0.27790744889851415	0.27703	.	.	0.310626506805	0.12001	T	0.305957	0.67819	T	-0.00616427	0.50801	T	-0.246631	0.50149	T	0.59572434425354	0.36231	D	0.851815	0.53646	D	0.10353011	0.24470	0.11527219	0.27826	0.10353011	0.24469	0.11527219	0.27825	-3.986	0.23594	T	.	.	0.097	0.24566	B	.;.;.;.	.;.;.;.	0.947478	0.13235	9.735	0.99080900448166742	0.51954	0.74974	0.36691	D	AEFDGHCI	0.278035	0.39241	N	-0.149351228205596	0.35262	2.023172	-0.125156835861702	0.34378	1.976896	0.893049002279796	0.25897	0.369785	0.05700	0	0.475579	0.06741	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.63	4.77	0.60425	0.956000	0.28799	1.432000	0.26455	-0.249000	0.07183	0.995000	0.38783	0.999000	0.35428	0.003000	0.05239	0.0:0.8439:0.0:0.1561	11.492	0.49637	824	0.40336	.;.;.;.	.	.	.	.	.	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	899.27	33	chr6	87088164	.	C	A	899.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.341;DP=260;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.37;ReadPosRankSum=0.254;SOR=0.622	GT:AD:DP:GQ:PL	0/1:57,39:96:99:909,0,1436	5	0	1	1
chr6	87418396	87418396	G	C	exonic	CFAP206	.	nonsynonymous SNV	CFAP206:NM_001031743:exon7:c.G820C:p.V274L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.0107427859896	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.513e-05	0.0003	1.917e-05	1.106e-05	1.991e-05	9.91e-06	8.46e-06	1.304e-05	1.113e-05	0	0	0	0	0	0	1.991e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.328	0.13219	T	0.343	0.17857	T	0.02	0.18235	B	0.032	0.22131	B	0.098836	0.19962	N	0.536219	0.999595	0.20909	N	.	.	.	1.55	0.29866	T	-0.84	0.22944	N	0.136	0.13341	-0.9845	0.33951	T	0.016	0.06711	T	10	0.103265375	0.18974	T	0.010743	0.27620	T	0.026	0.05648	0.395	0.42099	0.0954503805726	0.09146	0.19020201639342502	0.18938	0.19954006279	0.22355	.	.	.	0.119676	0.44138	T	-0.336867	0.05608	T	-0.721662	0.04715	T	0.0796661600470543	0.09943	T	0.69863	0.30863	T	0.034879714	0.04001	0.093172565	0.21994	0.034879714	0.04001	0.093172565	0.21993	-3.521	0.16727	T	.	.	0.158	0.34949	B	.	.	0.840487	0.12120	8.673	0.80669705967739813	0.13312	0.64434	0.32406	D	AEFI	0.131428	0.25036	N	-0.974096222241832	0.09159	0.4323572	-0.954286185025139	0.10824	0.5476554	0.0029963270333614	0.09855	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.586402	0.36253	0	.	.	5.16	-6.98	0.01454	0.167000	0.16419	0.396000	0.17945	-0.241000	0.07509	0.882000	0.31029	0.767000	0.26670	0.976000	0.56436	0.1402:0.1105:0.6398:0.1095	8.727	0.33637	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	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	420.11	13	chr6	87418396	.	G	C	420.11	.	AC=2;AF=0.25;AN=8;BaseQRankSum=2.35;DP=250;ExcessHet=0.6695;FS=228.186;MLEAC=3;MLEAF=0.375;MQ=60;MQRankSum=0;QD=3.33;ReadPosRankSum=2.11;SOR=8.086	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:32,29:61:99:0|1:87418395_G_C:301,0,226:87418395	2	0	2	3
chr6	89623449	89623449	G	C	exonic	ANKRD6	.	nonsynonymous SNV	ANKRD6:NM_001242814:exon8:c.G760C:p.A254P,ANKRD6:NM_001242813:exon10:c.G832C:p.A278P,ANKRD6:NM_001242809:exon11:c.G937C:p.A313P,ANKRD6:NM_001242811:exon11:c.G937C:p.A313P,ANKRD6:NM_014942:exon11:c.G937C:p.A313P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.136	0.0245992058489	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.371e-06	1.368e-06	1.363e-06	1.379e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	0	1.659e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.154	0.29959	T	0.142	0.45318	T	0.018	0.21357	B	0.023	0.20508	B	0.039367	0.24178	N	0.291867	0.831755	0.81001	D	1.1	0.28011	L	1.04	0.69536	T	-1.72	0.41618	N	0.142	0.22998	-0.7810	0.56246	T	0.158	0.49043	T	10	0.21127999	0.37551	T	0.024599	0.47587	T	0.136	0.36778	0.19	0.10039	0.812243866623	0.81048	0.4003691683834786	0.39951	0.0627005343337	0.06980	0.493873119354	0.37976	T	0.010344	0.20845	T	0.030306	0.55764	T	-0.194244	0.55192	T	0.687173008918762	0.40117	D	0.814918	0.46941	T	0.38700092	0.59819	0.36961833	0.62228	0.38700092	0.59819	0.36961833	0.62228	-2.743	0.09611	T	.	.	0.087	0.24599	B	.;.;.;.;.;.	.;.;.;.;.;.	3.299966	0.45293	22.1	0.99220639723840176	0.55901	0.87048	0.46473	D	AEFDBI	0.620047	0.60525	D	0.0645151457266858	0.44813	2.748561	0.232383900550737	0.51652	3.345996	0.851841989370647	0.25059	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.620846	0.47308	0	.	.	5.83	5.83	0.93059	4.089000	0.57410	11.794000	0.96459	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.1522:0.8478:0.0	14.976	0.70930	717	0.55835	.;.;.;.;.;.	.	.	.	.	.	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	799.49	33	chr6	89623449	.	G	C	799.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.417;DP=234;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.8;ReadPosRankSum=0.384;SOR=0.606	GT:AD:DP:GQ:PL	0/1:38,36:74:99:810,0,909	6	0	1	0
chr6	106652345	106652345	A	G	exonic	QRSL1	.	nonsynonymous SNV	QRSL1:NM_018292:exon6:c.A694G:p.I232V	.	442	1073	6	1	0	8	0.00371402	.	.	.	2096095	not_provided|QRSL1-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.131	0.00553500125616	0.0002	0.00139776	0.0012	0	0.0004	0	0	0.0004	0	0.0069	0.0010479	162	154602	rs144191952	0.0006	0.0006	0.0004	0.0009	0.0066	0.0006	0.0006	0.0061	0.0059	2.987e-05	0.0002	0	2.519e-05	3.744e-05	0.0010	0.0003	0.0007	0.0066	0.0004	0.0004	0.0003	0.0005	0.0068	0.0003	0.0003	0.0050	0.0044	2.405e-05	0	0.0002	0	0	0	0	0.0004	0	0.0068	0.016	0.51853	D	0.523	0.10354	T	0.522	0.37544	P	0.371	0.43568	B	0.000000	0.84330	D	0.044753	0.999999	0.58761	D	0.585	0.15399	N	0.61	0.53516	T	-0.43	0.14390	N	0.388	0.45520	-1.0688	0.09679	T	0.077	0.30859	T	10	0.0103467405	0.00231	T	0.005535	0.14258	T	0.131	0.35738	.	.	0.768443936427	0.76632	0.7160932274796146	0.71552	0.492731692563	0.47905	0.71829521656	0.69798	T	0.025792	0.19218	T	-0.406678	0.02092	T	-0.353216	0.38837	T	0.0812246638700502	0.10143	T	0.941006	0.78138	D	0.24841353	0.47828	0.32804263	0.58697	0.27303973	0.50372	0.33458003	0.59280	-4.376	0.29230	T	0.3321426285503093	0.43013	0.147	0.37235	B	.;.	.;.	3.359489	0.46376	22.3	0.99602752529975191	0.74338	0.97756	0.76905	D	AEFBI	0.815374	0.73736	D	0.33697526946732	0.58057	3.975729	0.467971887900011	0.65880	4.879904	0.996094560094397	0.34520	0.719381	0.83141	0	0.724815	0.89359	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	5.93	5.93	0.95888	7.065000	0.76422	7.096000	0.57520	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	16.387	0.83350	620	0.66037	Amidase signature domain;Amidase signature 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	0.003021	0.000000	0.002717	0.008772	0.000000	0.000000	0.000000	0.007576	0.07143	1441.63	35	chr6	106652345	.	A	G	1441.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.646;DP=280;ExcessHet=0;FS=6.365;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.13;ReadPosRankSum=1.4;SOR=1.044	GT:AD:DP:GQ:PL	0/1:43,59:102:99:1452,0,1068	6	0	1	0
chr6	108181641	108181641	A	G	exonic	NR2E1	.	nonsynonymous SNV	NR2E1:NM_001286102:exon8:c.A1096G:p.I366V,NR2E1:NM_003269:exon8:c.A985G:p.I329V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.492	0.0819194695655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.505	0.13219	T	0.545	0.09829	T	0.374	0.34192	B	0.14	0.33554	B	0.000000	0.84330	D	0.085869	1	0.81001	D	1.055	0.26876	L	-4.0	0.96339	D	-0.4	0.13805	N	0.563	0.58713	0.224	0.86322	D	0.615	0.86389	D	10	0.34753746	0.51686	T	0.081919	0.73788	D	0.492	0.77847	0.509	0.60540	0.717469679874	0.71498	0.3265440848132674	0.32567	0.76250625634	0.64343	0.864828586578	0.91821	D	0.438777	0.78431	T	0.201947	0.74075	D	0.0523065	0.73736	D	0.681557238101959	0.39859	D	0.90021	0.65300	D	0.19545336	0.41334	0.17858672	0.40538	0.19545336	0.41334	0.17858672	0.40537	-5.565	0.42471	T	.	.	0.228	0.57104	B	.;.	.;.	3.411019	0.47314	22.4	0.99344010102813485	0.60291	0.99739	0.99101	D	AEFDBI	0.928598	0.91305	D	0.0585818474453466	0.44539	2.726028	0.262787470250063	0.53380	3.507283	0.999999977031886	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.59043	0.30614	0	0.530356	0.10902	0	.	.	5.87	5.87	0.94266	8.909000	0.92241	10.984000	0.84627	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	16.248	0.82291	752	0.51611	Nuclear hormone receptor, ligand-binding domain|Nuclear hormone receptor, ligand-binding domain|Nuclear hormone receptor, ligand-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	.	.	.	.	.	.	.	.	0.07143	1300.46	35	chr6	108181641	.	A	G	1300.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-3.258;DP=280;ExcessHet=0;FS=3.758;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.75;ReadPosRankSum=-0.484;SOR=0.388	GT:AD:DP:GQ:PL	0/1:46,56:102:99:1311,0,1219	6	0	1	0
chr6	109466273	109466273	C	T	exonic	ZBTB24	.	nonsynonymous SNV	ZBTB24:NM_014797:exon7:c.G1672A:p.D558N	Immunodeficiency-centromeric instability-facial anomalies syndrome-2, Autosomal recessive	0	1510	12	0	0	12	0.00395778	.	.	.	521280	not_provided|Immunodeficiency-centromeric_instability-facial_anomalies_syndrome_2|ZBTB24-related_disorder	MedGen:C3661900|MONDO:MONDO:0013553,MedGen:C3279748,OMIM:614069,Orphanet:2268|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.099	0.00443151318148	0.0023	0.00139776	0.0025	0.0007	0.0030	0	0.0015	0.0037	0.0022	0.0005	0.0024191	374	154602	rs61731736	0.0027	0.0027	0.0028	0.0027	0.0061	0.0027	0.0026	0.0045	0.0039	0.0005	0.0026	0.0116	0	0.0013	0.0061	0.0029	0.0033	0.0005	0.0024	0.0024	0.0027	0.0021	0.0032	0.0022	0.0021	0.0028	0.0027	0.0006	0	0.0024	0.0107	0	0.0022	0.0170	0.0032	0.0061	0.0006	0.163	0.23450	T	0.269	0.22426	T	0.033	0.20350	B	0.012	0.16012	B	0.000004	0.62929	N	0.102760	0.974	0.39077	D	0.28	0.10031	N	2.87	0.10386	T	-1.01	0.26639	N	0.099	0.08088	-1.0026	0.29168	T	0.011	0.03949	T	10	0.005057752	0.00109	T	0.004432	0.10844	T	0.099	0.28413	.	.	0.167679373172	0.16340	0.4776154451295473	0.47681	0.168406635344	0.18989	0.437026292086	0.30171	T	0.012333	0.10860	T	-0.687007	0.00044	T	-0.762036	0.03040	T	0.0142797081524767	0.00284	T	0.822018	0.48145	T	0.053179946	0.10025	0.06708764	0.13832	0.065692656	0.14063	0.07455808	0.16323	-4.855	0.35225	T	.	.	0.163	0.35992	B	.	.	3.074357	0.41339	21.3	0.99801893830854504	0.88639	0.92542	0.55956	D	AEFDBCI	0.385491	0.46621	N	-0.174969276786347	0.34179	1.947773	0.00327527721614282	0.39867	2.370386	0.999999999947417	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	6.06	5.17	0.70848	3.705000	0.54553	4.033000	0.41356	0.599000	0.40250	0.990000	0.36992	0.999000	0.35428	0.966000	0.53164	0.0:0.9277:0.0:0.0723	14.532	0.67521	555	0.71762	.	.	.	.	.	.	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	0.008056	0.025253	0.004076	0.005848	0.000000	0.000000	0.015244	0.000000	0.07143	2342.44	78	chr6	109466273	.	C	T	2342.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.71;DP=494;ExcessHet=0;FS=4.461;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.62;ReadPosRankSum=0.227;SOR=1.042	GT:AD:DP:GQ:PL	0/1:82,90:172:99:2353,0,1937	6	0	1	0
chr6	125927739	125927739	C	T	exonic	NCOA7	.	nonsynonymous SNV	NCOA7:NM_001199622:exon4:c.C431T:p.T144I,NCOA7:NM_001199621:exon13:c.C2255T:p.T752I,NCOA7:NM_001122842:exon14:c.C2567T:p.T856I,NCOA7:NM_181782:exon14:c.C2600T:p.T867I,NCOA7:NM_001199619:exon15:c.C2600T:p.T867I,NCOA7:NM_001199620:exon16:c.C2600T:p.T867I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.310	0.0337695859575	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.002	0.79402	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.046049	0.999991	0.58761	D	2.645	0.77386	M	0.85	0.47130	T	-4.55	0.78553	D	0.593	0.61341	-0.3737	0.72848	T	0.322	0.69099	T	10	0.5296869	0.63112	D	0.03377	0.55213	D	0.310	0.63162	0.542	0.65446	0.110392049598	0.10638	0.7361813659560693	0.73563	0.493758875756	0.47968	0.727325379848	0.71116	T	0.326126	0.69677	T	0.0912494	0.63330	D	-0.106703	0.62872	T	0.981613278388977	0.74012	D	0.966203	0.94055	D	0.912213	0.92502	0.8593696	0.92136	0.912213	0.92503	0.8593696	0.92136	-7.026	0.57596	T	.	.	0.909	0.86127	P	.;.;.;.;.	.;.;.;.;.	4.862997	0.79599	27.1	0.99875501728492933	0.95244	0.87302	0.46800	D	AEFBCI	0.314837	0.41958	N	0.790928341836536	0.85532	8.604846	0.755157991166596	0.86543	8.92262	0.999999978872137	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.8	5.8	0.92081	4.226000	0.58405	7.713000	0.66906	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	20.071	0.97721	817	0.41665	TLDc domain|TLDc domain;TLDc domain|TLDc domain;.;TLDc domain|TLDc domain;TLDc domain|TLDc 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	84.96	109	chr6	125927739	.	C	T	84.96	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-4.737;DP=668;ExcessHet=0;FS=131.069;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=0.4;ReadPosRankSum=0.792;SOR=8.688	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:181,34:215:90:0|1:125927739_C_T:90,0,5971:125927739	6	0	1	0
chr6	131693564	131693564	C	T	exonic	ENPP3	.	nonsynonymous SNV	ENPP3:NM_005021:exon15:c.C1352T:p.A451V	.	436	1082	4	0	0	4	0.00184502	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.399	0.0445526449192	.	.	3.295e-05	0	0	0	0	4.496e-05	0	6.057e-05	2.59e-05	4	154602	rs762082474	3.284e-05	3.283e-05	3.949e-05	2.613e-05	0.0005	2.544e-05	2.249e-05	0.0001	7.544e-05	0	0	0	0	0	0.0005	2.968e-05	4.969e-05	0.0001	6.572e-06	6.567e-06	0	1.345e-05	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0005	0	0.023	0.48186	D	0.09	0.40267	T	0.96	0.55278	D	0.764	0.56591	P	0.000237	0.47286	D	0.146398	0.998695	0.45291	D	2.27	0.64531	M	-0.71	0.72889	T	-3.45	0.67589	D	0.565	0.58883	-0.2855	0.75391	T	0.358	0.72045	T	10	0.47347283	0.60003	T	0.044553	0.61547	D	0.399	0.71321	0.511	0.60846	0.784071616257	0.78207	0.8078388473886524	0.80738	0.110544938361	0.12480	0.519361793995	0.41537	T	0.296343	0.66898	T	-0.153753	0.27726	T	-0.278336	0.46973	T	0.868164837360382	0.51814	D	0.927007	0.73102	D	0.46151167	0.64765	0.23648003	0.48921	0.46151167	0.64765	0.23648003	0.48920	-8.433	0.63984	D	.	.	0.160	0.42022	B	.;.;.	.;.;.	4.037467	0.59751	24.1	0.99899527844550939	0.97199	0.86596	0.45909	D	AEFDBI	0.427788	0.49159	N	0.532557980882283	0.69028	5.299053	0.506557466790013	0.68431	5.218988	0.959939086127973	0.28457	0.487112	0.14033	0	0.59043	0.45803	0	0.491513	0.07944	0	0.564101	0.26826	0	.	.	5.8	5.8	0.92081	3.381000	0.52188	4.685000	0.44339	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.596000	0.31288	0.0:0.9218:0.0:0.0782	12.881	0.57410	872	0.31118	.;.;.	.	.	.	.	.	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	1531.46	34	chr6	131693564	.	C	T	1531.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.42;DP=337;ExcessHet=0;FS=3.736;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.88;ReadPosRankSum=2.18;SOR=0.625	GT:AD:DP:GQ:PL	0/1:84,71:155:99:1542,0,1920	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	0/1:214,67:281:76:76,0,4339	3	0	3	1
chr6	154039668	154039668	T	A	exonic	OPRM1	.	nonsynonymous SNV	OPRM1:NM_000914:exon1:c.T124A:p.S42T,OPRM1:NM_001008503:exon1:c.T124A:p.S42T,OPRM1:NM_001008504:exon1:c.T124A:p.S42T,OPRM1:NM_001008505:exon1:c.T124A:p.S42T,OPRM1:NM_001145282:exon1:c.T124A:p.S42T,OPRM1:NM_001145283:exon1:c.T124A:p.S42T,OPRM1:NM_001145284:exon1:c.T124A:p.S42T,OPRM1:NM_001145285:exon1:c.T124A:p.S42T,OPRM1:NM_001145286:exon1:c.T124A:p.S42T,OPRM1:NM_001285522:exon1:c.T124A:p.S42T,OPRM1:NM_001285523:exon1:c.T124A:p.S42T,OPRM1:NM_001285524:exon2:c.T403A:p.S135T,OPRM1:NM_001145279:exon3:c.T403A:p.S135T	.	421	1073	27	1	0	29	0.0133333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.163	.	0.0004	0.00179712	0.0023	0.0001	0.0013	0	0	0.0008	0.0023	0.0124	0.0019599	303	154602	rs76546679	0.0011	0.0011	0.0008	0.0015	0.0112	0.0011	0.0011	0.0106	0.0104	2.987e-05	0.0013	0.0005	0	3.746e-05	0.0102	0.0004	0.0016	0.0112	0.0008	0.0008	0.0006	0.0011	0.0091	0.0007	0.0007	0.0070	0.0062	7.216e-05	0	0.0022	0.0003	0.0002	0	0.0034	0.0005	0.0043	0.0091	0.024	0.48642	D	0.069	0.48336	T	0.081	0.40850	B	0.061	0.42166	B	0.962520	0.08214	U	0.977162	0.914176	0.81001	D	0.695	0.17993	N	2.18	0.18875	T	-1.08	0.28084	N	0.139	0.18239	-1.0328	0.19554	T	0.020	0.08360	T	10	0.006665826	0.00151	T	.	.	.	0.163	0.42028	.	.	0.316198179892	0.31222	0.45511110980133274	0.45429	0.053280576852	0.05870	0.608177363873	0.54058	T	0.017584	0.45189	T	-0.439598	0.01300	T	-0.393841	0.34102	T	0.0302764919892629	0.02032	T	0.811819	0.47330	T	0.16551498	0.36828	0.14858486	0.35117	0.16551498	0.36827	0.14858486	0.35116	-3.873	0.21898	T	.	.	0.266	0.50063	B	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	2.983720	0.39806	21.0	0.99557280528168701	0.71521	0.00926	0.03595	N	AEFDBHCI	0.227715	0.35149	N	-0.121549881955723	0.36456	2.107419	0.0916358174889391	0.44126	2.700493	0.998891449821908	0.37915	0.487112	0.14033	0	0.563428	0.19063	0	0.606814	0.37721	0	0.564101	0.26826	0	.	.	5.75	5.75	0.90390	3.186000	0.50643	.	.	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.0:0.0:1.0	15.041	0.71452	944	0.12746	.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	0.006042	0.005051	0.002717	0.000000	0.000000	0.017241	0.015244	0.011364	0.1429	3536.34	34	chr6	154039668	.	T	A	3536.34	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.129;DP=422;ExcessHet=0.3476;FS=1.456;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=13.1;ReadPosRankSum=0.362;SOR=0.599	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:70,89:159:99:1|0:154039662_A_G:2230,0,2611:154039662	5	0	2	0
chr6	155183335	155183335	G	A	exonic	TIAM2	.	nonsynonymous SNV	TIAM2:NM_001384547:exon13:c.G2899A:p.G967R,TIAM2:NM_001384546:exon14:c.G2899A:p.G967R,TIAM2:NM_012454:exon14:c.G2899A:p.G967R	.	436	1032	51	3	0	57	0.0268741	.	.	.	721834	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.111	.	0.0029	0.00539137	0.0056	0.0004	0.0007	0.0001	0.0002	0.0036	0.0077	0.0255	0.0051681	799	154602	rs150560357	0.0038	0.0038	0.0031	0.0045	0.0242	0.0037	0.0036	0.0233	0.0230	0.0006	0.0017	0.0154	0.0001	0.0003	0.0149	0.0023	0.0049	0.0242	0.0025	0.0025	0.0023	0.0028	0.0199	0.0023	0.0023	0.0167	0.0155	0.0004	0	0.0022	0.0127	0.0002	0.0002	0.0204	0.0026	0.0038	0.0199	0.116	0.31088	T	0.539	0.10173	T	0.026	0.20732	B	0.011	0.19653	B	0.065058	0.21909	N	0.500214	1	0.08975	N	0.69	0.16971	N	1.2	0.37405	T	-1.78	0.42957	N	0.196	0.24260	-1.0216	0.23195	T	0.012	0.04700	T	10	0.0063183606	0.00143	T	.	.	.	0.111	0.31313	0.552	0.66856	0.190952846119	0.18690	0.6469867475551525	0.64633	0.263161145302	0.28869	0.396466434002	0.24577	T	0.029083	0.20920	T	-0.475935	0.00782	T	-0.4375	0.29089	T	0.0139145377650393	0.00266	T	0.673133	0.29067	T	0.12168373	0.28610	0.10275124	0.24636	0.12168373	0.28610	0.10275124	0.24635	-8.994	0.67659	D	.	.	0.143	0.35288	B	.;.;.;.;.;.	.;.;.;.;.;.	2.318200	0.29679	18.20	0.9785813049849762	0.36445	0.12320	0.17196	N	ALL	0.091712	0.18575	N	-0.651287987956593	0.17423	0.8964142	-0.546228900401239	0.20905	1.128492	0.999999875409692	0.74766	0.566229	0.32551	0	0.093493	0.02558	3	0.658983	0.55881	0	0.674467	0.66132	0	.	.	5.48	1.97	0.25278	2.769000	0.47338	7.249000	0.57924	0.676000	0.76740	0.096000	0.22710	1.000000	0.68203	0.916000	0.45140	0.1669:0.2426:0.3435:0.247	0.810	0.01021	752	0.51611	PDZ domain|PDZ domain;PDZ domain|PDZ domain;.;.;.;PDZ domain|PDZ 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	0.017623	0.000000	0.009511	0.029240	0.000000	0.008621	0.024390	0.030303	0.07143	1636.46	33	chr6	155183335	.	G	A	1636.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.24;DP=306;ExcessHet=0;FS=0.669;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.41;ReadPosRankSum=0.892;SOR=0.624	GT:AD:DP:GQ:PL	0/1:54,68:122:99:1647,0,1118	6	0	1	0
chr6	156778665	156778665	G	A	exonic	ARID1B	.	nonsynonymous SNV	ARID1B:NM_001374820:exon1:c.G985A:p.G329S,ARID1B:NM_001374828:exon1:c.G985A:p.G329S,ARID1B:NM_017519:exon1:c.G985A:p.G329S,ARID1B:NM_001371656:exon2:c.G985A:p.G329S	Coffin-Siris syndrome 1, Autosomal dominant	1	1454	61	6	0	73	0.0244884	.	.	.	207349	not_specified|Inborn_genetic_diseases|not_provided|Coffin-Siris_syndrome_1	MedGen:CN169374|MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900,Orphanet:1465	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.060	.	.	0.000998403	0.0042	0	0	0	.	0.0105	0.0085	0.0020	0.0005304	82	154602	rs375160616	0.0057	0.0054	0.0059	0.0056	0.0212	0.0056	0.0056	0.0179	0.0167	0.0019	0.0047	0.0101	3.289e-05	0.0014	0.0212	0.0063	0.0058	0.0025	0.0047	0.0047	0.0055	0.0040	0.0076	0.0044	0.0043	0.0065	0.0060	0.0012	0.0541	0.0076	0.0090	0	0.0014	0.0208	0.0063	0.0077	0.0019	0.0	0.91255	D	0.502	0.11115	T	0.001	0.07471	B	0.001	0.06944	B	.	.	.	.	0.99806	0.22374	N	1.1	0.28011	L	3.73	0.03982	T	-0.54	0.16598	N	0.119	0.10911	-0.9001	0.47983	T	0.003	0.00897	T	9	0.0049165785	0.00105	T	.	.	.	0.060	0.17295	.	.	0.0934897674506	0.08844	0.13403362991275802	0.13327	0.291417743539	0.31552	0.872212529182	0.92884	D	0.01296	0.11294	T	-0.646012	0.00077	T	-0.697839	0.05944	T	0.0762739138226754	0.09504	T	0.514549	0.19192	T	0.19176523	0.40818	0.24653356	0.50165	0.15059175	0.34276	0.19889103	0.43743	-4.616	0.32372	T	.	.	0.078	0.06756	B	.;.;.;.	.;.;.;.	2.943074	0.39137	20.9	0.97329888956382771	0.33418	0.06818	0.12842	N	AEFDBHCIJ	0.048428	0.08264	N	-0.610752536718014	0.18620	0.9681884	-0.499574705844725	0.22166	1.202612	0.999999168842093	0.74766	0.524318	0.21684	1	0.218748	0.04544	0	0.47417	0.07244	0	0.492483	0.08430	1	.	.	2.65	1.31	0.20837	0.438000	0.21277	7.060000	0.57403	0.397000	0.20528	0.992000	0.37556	1.000000	0.68203	0.962000	0.52141	0.4178:0.0:0.5822:0.0	4.791	0.12619	931	0.16308	.;.;.;.	.	.	.	.	.	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	0.015432	0.000000	0.000000	0.053922	0.000000	0.000000	0.000000	0.014286	0.08333	587.27	15	chr6	156778665	.	G	A	587.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.57;DP=188;ExcessHet=0;FS=1.157;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.5;ReadPosRankSum=0.298;SOR=0.993	GT:AD:DP:GQ:PL	0/1:24,23:47:99:597,0,487	5	0	1	1
chr6	156779017	156779017	C	T	exonic	ARID1B	.	nonsynonymous SNV	ARID1B:NM_001374820:exon1:c.C1337T:p.A446V,ARID1B:NM_001374828:exon1:c.C1337T:p.A446V,ARID1B:NM_017519:exon1:c.C1337T:p.A446V,ARID1B:NM_001371656:exon2:c.C1337T:p.A446V	Coffin-Siris syndrome 1, Autosomal dominant	22	1482	18	0	0	18	0.00603622	.	.	.	579255	ARID1B-related_disorder|Inborn_genetic_diseases|Coffin-Siris_syndrome_1|not_provided	.|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900,Orphanet:1465|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.027	0.3450304029	.	.	0	.	.	.	0	.	.	0	3.84e-05	1	26028	rs748273011	0.0004	0.0005	0.0003	0.0005	0.0112	0.0003	0.0003	0.0101	0.0096	0	0.0001	0.0009	3.871e-05	0	0.0043	7.964e-05	0.0006	0.0112	0.0003	0.0003	0.0002	0.0005	0.0068	0.0002	0.0002	0.0049	0.0043	2.549e-05	0	0	0.0012	0	0	0.0083	9.18e-05	0	0.0068	0.0	0.91255	D	0.057	0.46406	T	0.088	0.27649	B	0.003	0.12992	B	.	.	.	.	0.99007	0.24217	N	0	0.06538	N	4.79	0.01539	T	-0.71	0.20145	N	0.11	0.09631	-1.0240	0.22410	T	0.093	0.35498	T	9	0.014846742	0.00312	T	0.34503	0.92118	D	0.027	0.05988	.	.	0.082315109003	0.07666	0.11740363229762577	0.11668	0.291776440169	0.31589	0.841277122498	0.88289	D	0.017492	0.14263	T	-0.221584	0.17779	T	-0.556066	0.16749	T	0.326483676644333	0.26082	T	0.422258	0.12306	T	0.2873827	0.51749	0.44129464	0.67418	0.33354372	0.55760	0.51041013	0.71708	-5.743	0.44074	T	.	.	0.175	0.42259	B	.;.;.;.	.;.;.;.	3.898311	0.56773	23.8	0.91648444414214014	0.20937	0.14825	0.18604	N	AEFDBHCIJ	0.165601	0.29212	N	-0.710792866598018	0.15718	0.7945733	-0.649195058881883	0.18237	0.9733503	0.999999999706503	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.519653	0.09787	0	0.492483	0.08430	1	.	.	1.35	1.35	0.21078	2.329000	0.43535	6.423000	0.55618	0.345000	0.19837	0.980000	0.35271	1.000000	0.68203	0.977000	0.56843	0.0:1.0:0.0:0.0	9.660	0.39114	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	1	0	0	0	0.002688	0.000000	0.000000	0.000000	0.000000	0.000000	0.006494	0.015152	0.08333	296.27	13	chr6	156779017	.	C	T	296.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.21;DP=115;ExcessHet=0;FS=1.657;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.39;ReadPosRankSum=1.37;SOR=0.313	GT:AD:DP:GQ:PL	0/1:14,12:26:99:306,0,352	5	0	1	1
chr6	159806021	159806021	A	C	exonic	PNLDC1	.	nonsynonymous SNV	PNLDC1:NM_001271862:exon7:c.A500C:p.E167A,PNLDC1:NM_173516:exon7:c.A467C:p.E156A	.	432	1058	29	3	0	35	0.0162715	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	.	0.0050	0.00519169	0.0064	0.0012	0.0046	0	0.0054	0.0055	0.0110	0.0179	0.0061254	947	154602	rs146392472	0.0061	0.0061	0.0057	0.0065	0.0181	0.0060	0.0059	0.0173	0.0170	0.0009	0.0042	0.0051	2.519e-05	0.0054	0.0166	0.0056	0.0064	0.0181	0.0045	0.0045	0.0043	0.0047	0.0174	0.0043	0.0041	0.0144	0.0133	0.0011	0	0.0044	0.0037	0.0004	0.0029	0.0034	0.0063	0.0071	0.0174	0.025	0.47320	D	0.016	0.61642	D	0.243	0.33195	B	0.183	0.35961	B	0.052386	0.22898	N	0.442842	0.999982	0.18198	N	2.595	0.75868	M	.	.	.	-2.22	0.49846	N	0.416	0.49146	-1.0514	0.14009	T	0.043	0.18410	T	9	0.007142067	0.00162	T	.	.	.	0.038	0.09825	.	.	0.276482976112	0.27267	0.4509988585740375	0.45017	0.36332536221	0.37963	0.265277177095	0.05535	T	0.208192	0.56805	T	-0.412569	0.01912	T	-0.351778	0.39000	T	0.0187307143406989	0.00586	T	0.854015	0.53996	D	0.14637151	0.33511	0.14839086	0.35078	0.14637151	0.33511	0.14839086	0.35077	-6.699	0.51803	T	.	.	0.133	0.28778	B	.;.	.;.	2.142681	0.27288	17.41	0.98660465239849338	0.44317	0.81536	0.40920	D	AEFDBHCI	0.166051	0.29260	N	-0.339153688440127	0.27672	1.52017	-0.299622933287084	0.28111	1.564821	0.999996483160134	0.74766	0.517182	0.21443	0	0.547309	0.14657	0	0.478664	0.07449	1	0.613276	0.41899	0	.	.	5.76	3.4	0.38031	2.895000	0.48347	7.857000	0.71250	0.751000	0.87719	0.934000	0.32416	1.000000	0.68203	0.380000	0.26335	0.8948:0.0:0.1052:0.0	9.562	0.38538	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	0.013595	0.000000	0.014946	0.014620	0.000000	0.043103	0.015244	0.007576	0.07143	2375.63	38	chr6	159806021	.	A	C	2375.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.384;DP=389;ExcessHet=0;FS=1.12;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.37;ReadPosRankSum=-0.293;SOR=0.694	GT:AD:DP:GQ:PL	0/1:91,101:192:99:2386,0,2094	6	0	1	0
chr6	160048478	160048478	C	G	exonic	IGF2R	.	nonsynonymous SNV	IGF2R:NM_000876:exon18:c.C2449G:p.L817V	Hepatocellular carcinoma, somatic	427	993	99	3	0	105	0.0502152	.	.	.	699422	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.125	.	0.0062	0.0071885	0.0094	0.0009	0.0062	0	0.0056	0.0092	0.0154	0.0237	0.0086739	1341	154602	rs8191808	0.0072	0.0072	0.0064	0.0080	0.0397	0.0071	0.0071	0.0355	0.0339	0.0009	0.0059	0.0307	5.038e-05	0.0058	0.0397	0.0056	0.0098	0.0237	0.0059	0.0059	0.0059	0.0059	0.0215	0.0056	0.0055	0.0182	0.0169	0.0010	0.0066	0.0050	0.0288	0.0006	0.0061	0.0442	0.0069	0.0085	0.0215	0.088	0.32296	T	0.012	0.63918	D	0.981	0.59675	D	0.832	0.59730	P	0.000462	0.44119	D	0.151190	0.999783	0.49076	D	.	.	.	3.84	0.03675	T	-1.35	0.33598	N	0.529	0.55799	-1.0289	0.20811	T	0.017	0.06998	T	10	0.005435288	0.00120	T	.	.	.	0.125	0.34456	.	.	0.391520894214	0.38767	0.6234013171663959	0.62273	0.452284579307	0.44955	0.323376655579	0.13932	T	0.135816	0.46784	T	-0.458906	0.00998	T	-0.413039	0.31874	T	0.0227990608119091	0.01000	T	0.867113	0.56785	D	0.13013394	0.30373	0.119077824	0.28742	0.1522377	0.34567	0.119077824	0.28741	-6.3	0.48722	T	.	.	0.127	0.27069	B	.;.	.;.	3.252730	0.44454	21.9	0.99696098389600929	0.80316	0.90954	0.52577	D	AEFBI	0.374056	0.45910	N	0.461876900785595	0.64879	4.752795	0.419132398140247	0.62757	4.496646	0.998863673749533	0.37845	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.3	4.31	0.50718	1.419000	0.34400	3.200000	0.36746	0.599000	0.40250	0.796000	0.29669	0.998000	0.33993	0.927000	0.46353	0.0:0.8324:0.0:0.1676	10.337	0.43037	784	0.47045	.;.	.	.	.	.	.	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	0.025706	0.005051	0.014946	0.049708	0.000000	0.025862	0.036810	0.018939	0.1429	3433.24	36	chr6	160048478	.	C	G	3433.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.075;DP=485;ExcessHet=0.3476;FS=1.312;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=10.53;ReadPosRankSum=0.61;SOR=0.607	GT:AD:DP:GQ:PL	0/1:95,77:172:99:1727,0,2249	5	0	2	0
chr6	167976271	167976271	T	0	exonic	HGC6.3	.	.	.	.	531	815	51	0	125	176	0.0303391	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	1161.15	37	chr6	167976271	.	T	*	1161.15	.	AC=2;AF=0.167;AN=12;DP=319;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=41.25;QD=11.06;SOR=0.695	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:45,28:73:99:0|1:167976249_AAGGAGGAGGCAGTGGGGGTCATTACCCCTGCAGTGTGTTGGG_A:873,0,1686:167976249	4	0	2	1
chr6	167976273	167976273	A	0	exonic	HGC6.3	.	.	.	.	664	522	164	53	119	389	0.205479	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	1243.27	37	chr6	167976273	.	A	*	1243.27	.	AC=2;AF=0.167;AN=12;DP=318;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=42.58;QD=11.62;SOR=0.69	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:45,28:73:99:0|1:167976249_AAGGAGGAGGCAGTGGGGGTCATTACCCCTGCAGTGTGTTGGG_A:873,0,1686:167976249	4	0	2	1
chr6	167976287	167976287	T	0	exonic	HGC6.3	.	.	.	.	7	149	13	0	57	70	0.0418006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	75.14	37	chr6	167976287	.	T	*	75.14	.	AC=1;AF=0.083;AN=12;DP=303;ExcessHet=0;FS=8.036;MLEAC=1;MLEAF=0.083;MQ=60;QD=1;SOR=1.268	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:45,28:73:99:0|1:167976249_AAGGAGGAGGCAGTGGGGGTCATTACCCCTGCAGTGTGTTGGG_A:873,0,1686:167976249	5	0	1	1
chr6	167976288	167976288	T	0	exonic	HGC6.3	.	.	.	.	556	780	60	5	121	191	0.0429448	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	75.14	37	chr6	167976288	.	T	*	75.14	.	AC=1;AF=0.083;AN=12;DP=303;ExcessHet=0;FS=8.036;MLEAC=1;MLEAF=0.083;MQ=60;QD=1;SOR=1.268	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:45,28:73:99:0|1:167976249_AAGGAGGAGGCAGTGGGGGTCATTACCCCTGCAGTGTGTTGGG_A:873,0,1686:167976249	5	0	1	1
chr6	168310420	168310420	A	G	exonic	DACT2	.	nonsynonymous SNV	DACT2:NM_001286351:exon3:c.T406C:p.S136P,DACT2:NM_214462:exon3:c.T406C:p.S136P	.	415	1105	2	0	0	2	0.000904159	.	.	.	3236663	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.422	0.1717364263	.	.	5.134e-05	0	0	0	0	0.0001	0	0	6.5e-06	1	154602	rs745324019	7.865e-06	7.525e-06	5.643e-06	1.015e-05	0.0005	4.22e-06	3.09e-06	0.0001	7.654e-05	0	0	3.979e-05	0	0	0.0005	1.854e-06	3.45e-05	3.792e-05	1.313e-05	1.312e-05	0	2.685e-05	1.47e-05	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0.0034	1.47e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000081	0.52346	D	0.135355	0.999935	0.51612	D	2.395	0.69210	M	-0.17	0.65563	T	-4.98	0.82141	D	0.694	0.69913	-0.4405	0.70714	T	0.283	0.65448	T	10	0.55387104	0.64407	D	0.171736	0.84892	D	0.422	0.73078	.	.	0.241078983079	0.23725	0.43652928838757793	0.43569	.	.	0.676907300949	0.63826	T	0.444972	0.78817	T	0.136867	0.68026	D	0.0664806	0.74675	D	0.972972869873047	0.69910	D	0.840116	0.55677	T	0.827809	0.85751	0.80772406	0.88756	0.827809	0.85752	0.80772406	0.88756	-9.284	0.71640	D	.	.	0.496	0.67140	A	.;.	.;.	4.483380	0.69966	25.5	0.99737774453019223	0.83264	0.96519	0.69544	D	AEFBI	.	.	.	0.451671470356655	0.64298	4.681168	0.366014232964302	0.59480	4.126025	0.99998491546807	0.51787	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	4.58	4.58	0.56077	7.444000	0.79646	10.447000	0.83349	0.683000	0.82448	1.000000	0.71638	1.000000	0.68203	0.431000	0.27472	1.0:0.0:0.0:0.0	11.701	0.50837	739	0.53257	.;.	.	.	.	.	.	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	1347.83	37	chr6	168310420	.	A	G	1347.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.065;DP=274;ExcessHet=0;FS=0.787;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.49;ReadPosRankSum=0.43;SOR=0.546	GT:AD:DP:GQ:PL	0/1:41,52:93:99:1358,0,1006	6	0	1	0
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|1:0,102:102:99:1|1:170561949_GCAA_G:4376,312,0:170561949	5	1	1	0
chr7	2605888	2605888	C	T	exonic	IQCE	.	nonsynonymous SNV	IQCE:NM_001287501:exon18:c.C1561T:p.P521S,IQCE:NM_001287502:exon18:c.C1561T:p.P521S,IQCE:NM_001287500:exon19:c.C1708T:p.P570S,IQCE:NM_001287499:exon20:c.C1756T:p.P586S,IQCE:NM_152558:exon20:c.C1756T:p.P586S	.	426	1075	20	1	0	22	0.0101289	.	.	.	859602	not_provided|IQCE-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.059	0.0102518954818	0.0038	0.00239617	0.0050	0.0013	0.0037	0	0.0005	0.0067	0.0043	0.0048	0.0040362	624	154602	rs112274087	0.0052	0.0052	0.0052	0.0051	0.0125	0.0051	0.0050	0.0101	0.0093	0.0010	0.0041	0.0059	2.575e-05	0.0006	0.0125	0.0057	0.0050	0.0047	0.0043	0.0043	0.0045	0.0041	0.0064	0.0040	0.0039	0.0059	0.0057	0.0010	0.0307	0.0064	0.0060	0	0.0004	0.0136	0.0064	0.0057	0.0027	0.104	0.33585	T	0.317	0.92824	T	0.911	0.90584	P	0.311	0.88582	B	0.106405	0.19615	N	0.498237	1	0.08975	N	2.125	0.59049	M	2.63	0.26445	T	-2.81	0.74821	D	0.144	0.16586	-1.0704	0.09326	T	0.058	0.24204	T	10	0.0047002435	0.00099	T	0.010252	0.26566	T	0.059	0.16972	.	.	0.287603790349	0.28378	0.1544516810618503	0.15366	0.33899569017	0.35858	0.298560917377	0.10187	T	0.020901	0.45195	T	-0.559731	0.00255	T	-0.573901	0.15093	T	0.0422745312397505	0.04105	T	0.824018	0.48536	T	0.036929853	0.04638	0.05289069	0.08804	0.03686157	0.04615	0.060979206	0.11699	-3.587	0.17727	T	.	.	0.077	0.19398	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	0.378673	0.07505	4.151	0.93961648328228031	0.24030	0.03044	0.07937	N	AEFDGBI	0.055871	0.10283	N	-0.655524026888088	0.17300	0.8890007	-0.80324649664845	0.14417	0.7531757	0.999950718665357	0.48110	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.683535	0.66460	0	.	.	4.79	1.42	0.21524	0.247000	0.17953	-0.081000	0.12176	-0.995000	0.01833	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.0:0.59:0.0:0.41	5.421	0.15699	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	1	0	1	0	0.014646	0.040816	0.013587	0.014620	0.000000	0.000000	0.018405	0.011364	0.07143	1138.53	34	chr7	2605888	.	C	T	1138.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.554;DP=263;ExcessHet=0;FS=0.929;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.39;ReadPosRankSum=-0.804;SOR=0.507	GT:AD:DP:GQ:PL	0/1:26,48:74:99:1149,0,531	6	0	1	0
chr7	2814361	2814361	C	T	exonic	GNA12	.	nonsynonymous SNV	GNA12:NM_001282441:exon2:c.G83A:p.R28Q	.	431	1056	34	1	0	36	0.0167598	.	.	.	2828235	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.169	.	0.0059	0.00239617	0.0064	0.0016	0.0032	0	0.0015	0.0097	0.0162	0.0030	0.0064423	996	154602	rs151253462	0.0079	0.0080	0.0080	0.0078	0.0254	0.0078	0.0078	0.0221	0.0208	0.0019	0.0042	0.0103	7.562e-05	0.0009	0.0254	0.0091	0.0083	0.0031	0.0059	0.0059	0.0061	0.0058	0.0096	0.0056	0.0055	0.0090	0.0087	0.0016	0	0.0062	0.0092	0.0002	0.0010	0.0442	0.0096	0.0090	0.0037	0.008	0.58626	D	0.014	0.62352	D	.	.	.	.	.	.	.	.	.	.	1	0.19781	N	.	.	.	-2.08	0.86010	D	1.22	0.01051	N	0.123	0.11483	-0.5180	0.67989	T	0.367	0.72712	T	8	0.004283428	0.00086	T	.	.	.	0.169	0.43123	.	.	0.472011534587	0.46827	.	.	.	.	.	.	.	.	.	.	-0.500656	0.00567	T	-0.47961	0.24487	T	0.00296320149154326	0.00031	T	0.350365	0.07800	T	.	.	.	.	.	.	.	.	-4.401	0.29571	T	.	.	0.104	0.18746	B	.	.	0.980151	0.13573	10.10	0.99304735825804491	0.58759	0.01677	0.05358	N	AEFDBIJ	0.025508	0.01757	N	-0.793627732173815	0.13475	0.6640948	-0.892724837559142	0.12265	0.6299404	0.999991911856854	0.74766	0.475973	0.10046	0	0.601575	0.49859	0	0.527494	0.11647	0	0.714379	0.83352	0	.	.	2.12	2.12	0.26372	-0.109000	0.10810	-0.377000	0.09567	0.587000	0.30956	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.0:1.0:0.0:0.0	7.776	0.28201	929	0.16858	.	.	.	.	.	.	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	775.63	27	chr7	2814361	.	C	T	775.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.9;DP=245;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.07;ReadPosRankSum=1.94;SOR=0.671	GT:AD:DP:GQ:PL	0/1:46,31:77:99:786,0,977	6	0	1	0
chr7	5370840	5370840	C	T	exonic	TNRC18	.	nonsynonymous SNV	TNRC18:NM_001080495:exon11:c.G3754A:p.E1252K	.	425	1095	2	0	0	2	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.0197196792285	.	.	7.497e-05	0	0	0	0.0002	0.0001	0	0	5.17e-05	8	154602	rs756617777	2.952e-05	3.078e-05	2.323e-05	3.587e-05	0.0002	2.224e-05	1.977e-05	2.456e-05	2.144e-05	0	0	0	0	4.074e-05	0.0002	3.329e-05	4.976e-05	0	1.971e-05	1.97e-05	0	4.035e-05	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	0.003	0.68238	D	0.081	0.41742	T	0.672	0.41203	P	0.041	0.23986	B	0.095768	0.20108	N	0.359439	1	0.08975	N	1.445	0.36358	L	2.65	0.12676	T	-1.6	0.38540	N	0.255	0.28849	-1.0242	0.22344	T	0.029	0.12278	T	10	0.077132195	0.12136	T	0.01972	0.42154	T	0.061	0.17616	0.315	0.29096	0.043077524339	0.03247	0.08014907310058944	0.07949	0.161500774242	0.18230	0.479103982449	0.35933	T	0.023336	0.17832	T	-0.383836	0.02946	T	-0.589458	0.13713	T	0.0806443029511087	0.10069	T	0.844815	0.52285	T	0.048971325	0.08623	0.06765234	0.14024	0.048971325	0.08622	0.06765234	0.14024	-6.292	0.48658	T	.	.	0.097	0.15609	B	.;.	.;.	2.733117	0.35776	19.99	0.64050738571097987	0.07388	0.07697	0.13700	N	AEFDGBI	0.085501	0.17333	N	-0.905233642724034	0.10718	0.513591	-1.0119035771441	0.09523	0.474257	0.0992282996005446	0.16325	0.706548	0.73137	0	0.702456	0.74545	0	0.645312	0.48771	0	0.714379	0.83352	0	.	.	4.4	2.56	0.29842	1.275000	0.32748	2.288000	0.31941	-0.219000	0.08017	0.265000	0.24998	0.983000	0.30585	0.006000	0.07323	0.0:0.5812:0.3256:0.0932	7.259	0.25366	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	.	.	.	.	.	.	.	.	0.07143	521.53	37	chr7	5370840	.	C	T	521.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.22;DP=243;ExcessHet=0;FS=0.993;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.02;ReadPosRankSum=2.03;SOR=0.963	GT:AD:DP:GQ:PL	0/1:42,23:65:99:532,0,1009	6	0	1	0
chr7	11379656	11379656	T	C	exonic	THSD7A	.	nonsynonymous SNV	THSD7A:NM_015204:exon24:c.A4564G:p.S1522G	.	422	1086	13	1	0	15	0.00685871	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	.	8.1e-05	0.00159744	0.0032	0	0.0014	0	0	0.0005	0.0028	0.0133	0.0011061	171	154602	rs368900300	0.0008	0.0008	0.0005	0.0011	0.0100	0.0007	0.0007	0.0094	0.0092	6.055e-05	7.174e-05	0.0002	2.587e-05	0	0.0035	0.0002	0.0007	0.0100	0.0003	0.0003	0.0003	0.0004	0.0066	0.0002	0.0002	0.0048	0.0042	2.406e-05	0	6.539e-05	0	0	0	0	0.0002	0.0005	0.0066	0.212	0.19500	T	0.194	0.28120	T	0.061	0.23190	B	0.044	0.24394	B	0.000081	0.52346	D	0.234460	0.829518	0.28778	N	1.1	0.28011	L	0.23	0.59717	T	-1.68	0.40082	N	0.265	0.30461	-0.9618	0.38839	T	0.140	0.45960	T	10	0.0066870153	0.00152	T	.	.	.	0.044	0.11924	.	.	0.123314135267	0.11883	0.2269603776766794	0.22611	0.0453434026075	0.04917	0.283158272505	0.07937	T	0.019495	0.20449	T	-0.46914	0.00860	T	-0.438702	0.28954	T	0.0396923171265889	0.03635	T	0.89951	0.65919	D	0.18581225	0.39961	0.1491158	0.35221	0.18581225	0.39960	0.1491158	0.35220	-7.62	0.58450	D	.	.	0.088	0.11701	B	.;.	.;.	2.622874	0.34091	19.53	0.9936343304653833	0.61113	0.92011	0.54748	D	AEFI	0.542019	0.55793	D	-0.265983642883552	0.30470	1.699328	-0.0907743466110345	0.35770	2.073454	0.351643098047086	0.19688	0.615465	0.37627	0	0.573888	0.26702	0	0.618467	0.43123	0	0.655142	0.61905	0	.	.	5.73	4.56	0.55644	2.285000	0.43149	4.245000	0.42727	0.665000	0.62972	0.993000	0.37899	1.000000	0.68203	0.992000	0.67800	0.0:0.0:0.1339:0.8661	13.094	0.58598	901	0.24189	.;.	.	.	.	.	.	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	0.001359	0.002924	0.000000	0.008621	0.006098	0.000000	0.08333	720.27	34	chr7	11379656	.	T	C	720.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.32;DP=221;ExcessHet=0;FS=0.988;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.21;ReadPosRankSum=-0.349;SOR=0.772	GT:AD:DP:GQ:PL	0/1:29,30:59:99:730,0,829	5	0	1	1
chr7	21903033	21903033	G	A	exonic	CDCA7L	.	nonsynonymous SNV	CDCA7L:NM_001127371:exon8:c.C1141T:p.L381F,CDCA7L:NM_018719:exon9:c.C1279T:p.L427F,CDCA7L:NM_001127370:exon10:c.C1177T:p.L393F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.545	0.0699454345617	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1299767891	6.842e-07	6.841e-07	1.362e-06	0	8.995e-07	0	0	.	.	0	0	0	0	0	0	8.995e-07	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	3.295	0.90403	M	0.34	0.58613	T	-3.74	0.71042	D	0.86	0.86941	0.027	0.82799	D	0.441	0.77928	T	10	0.9467933	0.94006	D	0.069945	0.70868	D	0.545	0.81077	0.858	0.95662	0.780657852685	0.77863	0.7880493888786723	0.78756	1.91311269366	0.92925	0.735585093498	0.72323	T	0.626378	0.88361	D	0.091594	0.63367	D	-0.106208	0.62911	T	0.998971581459045	0.95761	D	0.952605	0.92599	D	0.79861253	0.83817	0.76817507	0.86309	0.79861253	0.83818	0.76817507	0.86310	-9.477	0.70716	D	.	.	0.941	0.88401	P	.;.;.	.;.;.	5.421571	0.90701	31	0.99890813410612078	0.96513	0.98623	0.84820	D	AEFBI	0.700675	0.65762	D	0.795052017268525	0.85796	8.684041	0.724310667477347	0.84223	8.232992	0.999999999097164	0.74766	0.722319	0.85440	0	0.724815	0.89359	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	5.43	4.55	0.55429	6.889000	0.75444	9.935000	0.82611	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0714:0.0:0.9286:0.0	14.355	0.66294	822	0.40702	.;Zinc-finger domain of monoamine-oxidase A repressor R1;.	.	.	.	.	.	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	178.92	51	chr7	21903033	.	G	A	178.92	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-3.872;DP=533;ExcessHet=0.4139;FS=238.164;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=0.62;ReadPosRankSum=0.241;SOR=8.409	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:117,35:152:99:0|1:21903033_G_A:102,0,3000:21903033	4	0	2	1
chr7	27165154	27165154	C	G	exonic	HOXA9	.	nonsynonymous SNV	HOXA9:NM_152739:exon1:c.G304C:p.A102P	.	416	1093	13	0	0	13	0.00591178	.	.	.	1858685	Hand-foot-genital_syndrome	MONDO:MONDO:0007698,MedGen:C1841679,OMIM:140000,Orphanet:2438	no_assertion_criteria_provided	Uncertain_significance	.	.	.	.	.	.	.	.	0.279	0.0609112422334	0.0039	0.00119808	0.0039	0.0010	0.0045	0	0.0014	0.0054	0.0037	0.0018	0.0030595	473	154602	rs200450890	0.0049	0.0049	0.0050	0.0048	0.0057	0.0048	0.0048	0.0055	0.0055	0.0006	0.0049	0.0009	0	0.0021	0.0057	0.0056	0.0054	0.0019	0.0041	0.0041	0.0041	0.0040	0.0074	0.0038	0.0037	0.0063	0.0059	0.0014	0	0.0074	0	0	0.0020	0	0.0060	0.0047	0.0017	0.25	0.25457	T	0.247	0.47097	T	0.006	0.13644	B	0.021	0.19346	B	0.000567	0.43250	D	0.101272	0.991132	0.41700	D	1.685	0.43254	L	-3.22	0.93352	D	-0.3	0.11913	N	0.498	0.60918	0.054	0.83327	D	0.605	0.85987	D	10	0.008946419	0.00202	T	0.060911	0.68159	D	0.279	0.59619	.	.	0.825375682692	0.82372	0.3419688828052743	0.34109	0.560806340437	0.52599	0.5560105443	0.46704	T	0.154528	0.49586	T	-0.262687	0.12587	T	-0.148604	0.59368	T	0.0226547402669051	0.00983	T	0.652935	0.26315	T	0.31168482	0.53931	0.54382545	0.73632	0.31168482	0.53931	0.54382545	0.73633	-4.619	0.32410	T	.	.	0.094	0.18080	B	.;.	.;.	3.621539	0.51253	23.1	0.98279792430219792	0.39842	0.72795	0.35620	D	AEFDBHCIJ	0.413379	0.48307	N	-0.104404372209317	0.37201	2.160919	0.0800677656260278	0.43548	2.654229	0.999999999262732	0.74766	0.446893	0.09132	0	0.563428	0.19063	0	0.608004	0.38603	0	0.581474	0.35302	0	.	.	5.36	5.36	0.76624	1.595000	0.36318	7.127000	0.57612	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.8157:0.1843:0.0	14.997	0.71100	199	0.92292	Hox9, N-terminal activation 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	0.005589	0.021505	0.006793	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	906.27	35	chr7	27165154	.	C	G	906.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.495;DP=260;ExcessHet=0;FS=1.755;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.18;ReadPosRankSum=0.554;SOR=0.93	GT:AD:DP:GQ:PL	0/1:52,37:89:99:916,0,1321	5	0	1	1
chr7	29121048	29121048	A	G	exonic	CPVL	.	nonsynonymous SNV	CPVL:NM_019029:exon2:c.T14C:p.M5T,CPVL:NM_031311:exon2:c.T14C:p.M5T,CPVL:NM_001348054:exon3:c.T14C:p.M5T,CPVL:NM_001371261:exon3:c.T14C:p.M5T,CPVL:NM_001371262:exon3:c.T14C:p.M5T,CPVL:NM_001348052:exon4:c.T14C:p.M5T,CPVL:NM_001371258:exon5:c.T14C:p.M5T,CPVL:NM_001371263:exon5:c.T14C:p.M5T,CPVL:NM_001371264:exon5:c.T14C:p.M5T,CPVL:NM_001371256:exon6:c.T14C:p.M5T,CPVL:NM_001371260:exon6:c.T14C:p.M5T,CPVL:NM_001371257:exon7:c.T14C:p.M5T,CPVL:NM_001371255:exon8:c.T14C:p.M5T	.	437	1054	29	2	0	33	0.0154134	.	.	.	722485	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.150	0.00393197676452	0.0032	0.00139776	0.0044	0.0013	0.0012	0	0.0078	0.0049	0.0044	0.0076	0.0041138	636	154602	rs147204083	0.0048	0.0048	0.0047	0.0050	0.0081	0.0047	0.0047	0.0076	0.0074	0.0005	0.0009	0.0009	0	0.0060	0.0047	0.0051	0.0046	0.0081	0.0034	0.0034	0.0032	0.0036	0.0071	0.0031	0.0030	0.0052	0.0045	0.0009	0	0.0006	0.0012	0	0.0072	0	0.0052	0.0019	0.0071	0.151	0.24564	T	0.642	0.06925	T	0.0	0.02946	B	0.0	0.01387	B	0.310750	0.14438	N	0.731612	0.999749	0.20516	N	1.355	0.33814	L	2.57	0.37230	T	-2.28	0.89534	N	0.403	0.44379	-1.0105	0.26760	T	0.026	0.11264	T	10	0.011277139	0.00247	T	0.003932	0.09274	T	0.150	0.39571	.	.	0.273070737957	0.26916	0.6551017289726563	0.65446	0.25543592257	0.28134	0.397573798895	0.24731	T	0.165156	0.51089	T	-0.473743	0.00806	T	-0.446737	0.28057	T	0.00545477012526975	0.00059	T	0.412859	0.10744	T	0.07881134	0.17968	0.12567994	0.30280	0.07881134	0.17968	0.12567994	0.30279	-3.718	0.19584	T	.	.	0.083	0.20972	B	.;.;.;.;.;.	.;.;.;.;.;.	0.511951	0.08810	5.586	0.56103058872541112	0.05481	0.74787	0.36594	D	AEFCI	0.339930	0.43692	N	-1.02774996376483	0.08030	0.3751471	-0.933905676629754	0.11297	0.5746828	0.00242513292687663	0.09418	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.542086	0.14980	0	.	.	5.6	0.299	0.15019	1.165000	0.31432	0.291000	0.16873	-0.051000	0.17024	0.822000	0.30018	0.001000	0.17328	0.112000	0.18829	0.561:0.0:0.1556:0.2834	3.635	0.07684	823	0.40596	.;.;.;.;.;.	.	.	.	.	.	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	0.002520	0.000000	0.001359	0.000000	0.000000	0.008621	0.003049	0.007576	0.08333	519.27	27	chr7	29121048	.	A	G	519.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.03;DP=211;ExcessHet=0;FS=4.079;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.62;ReadPosRankSum=-1.673;SOR=1.358	GT:AD:DP:GQ:PL	0/1:32,22:54:99:529,0,743	5	0	1	1
chr7	31880847	31880847	C	T	exonic	PDE1C	.	nonsynonymous SNV	PDE1C:NM_001191056:exon3:c.G142A:p.V48I,PDE1C:NM_001191057:exon3:c.G142A:p.V48I,PDE1C:NM_001191058:exon4:c.G322A:p.V108I,PDE1C:NM_001191059:exon4:c.G142A:p.V48I,PDE1C:NM_001322055:exon4:c.G142A:p.V48I,PDE1C:NM_001322056:exon4:c.G142A:p.V48I,PDE1C:NM_001322057:exon4:c.G142A:p.V48I,PDE1C:NM_001322058:exon4:c.G322A:p.V108I,PDE1C:NM_001322059:exon4:c.G547A:p.V183I,PDE1C:NM_005020:exon4:c.G142A:p.V48I	.	431	1087	4	0	0	4	0.00183655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.249	0.0436171459372	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.765e-06	2.737e-06	2.755e-06	2.774e-06	0.0002	6.5e-07	4.4e-07	.	.	0	0	0	0	0	0.0002	0	5.015e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.32610	T	0.133	0.35455	T	0.937	0.52445	P	0.482	0.47127	P	0.039891	0.24120	N	0.463814	0.999997	0.58761	D	1.73	0.44655	L	-0.83	0.74265	T	-0.1	0.10308	N	0.465	0.53269	-0.0975	0.80155	T	0.480	0.80139	T	10	0.37081423	0.53461	T	0.043617	0.61074	D	0.249	0.55752	0.355	0.35571	0.732030257616	0.72964	0.19462362013890402	0.19380	1.0128183728	0.74832	0.664290249348	0.62022	T	0.230247	0.62507	T	0.0719425	0.61084	D	-0.134436	0.60596	T	0.893313407897949	0.54452	D	0.932607	0.74787	D	0.105617166	0.24973	0.11538262	0.27853	0.105617166	0.24973	0.11538262	0.27852	-5.778	0.45144	T	.	.	0.139	0.52110	B	.;.;.;.;.	.;.;.;.;.	4.498232	0.70332	25.5	0.99646519641206655	0.77005	0.97460	0.74892	D	AEFBI	0.798374	0.72494	D	0.553369311922217	0.70289	5.479544	0.593741273682789	0.74487	6.145868	0.999999999999997	0.74766	0.554377	0.28877	0	0.547309	0.14657	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	5.43	5.43	0.79006	6.103000	0.71146	7.658000	0.64072	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.951000	0.49849	0.0:1.0:0.0:0.0	19.191	0.93653	860	0.33753	.;.;.;.;.	.	.	.	.	.	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	759.49	35	chr7	31880847	.	C	T	759.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.428;DP=248;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.73;ReadPosRankSum=0.334;SOR=0.62	GT:AD:DP:GQ:PL	0/1:49,38:87:99:770,0,1171	6	0	1	0
chr7	37896955	37896955	G	A	exonic	NME8	.	nonsynonymous SNV	NME8:NM_016616:exon17:c.G1630A:p.A544T	Ciliary dyskinesia, primary, 6, Autosomal recessive	2	1498	22	0	0	22	0.0072896	.	.	.	457778	Primary_ciliary_dyskinesia_6|not_provided|NME8-related_disorder|Primary_ciliary_dyskinesia	MONDO:MONDO:0012571,MedGen:C1970506,OMIM:610852,Orphanet:244|MedGen:C3661900|.|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.466	0.0231904237042	0.0005	.	0.0007	0	0.0003	0	0	0.0005	0.0011	0.0025	0.0005304	82	154602	rs140494494	0.0004	0.0004	0.0003	0.0005	0.0056	0.0004	0.0004	0.0040	0.0035	0	8.951e-05	0	0	0	0.0056	0.0003	0.0004	0.0025	0.0003	0.0003	0.0002	0.0003	0.0017	0.0002	0.0002	0.0008	0.0006	0	0	0.0001	0	0.0004	0	0.0136	0.0003	0.0010	0.0017	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000093	0.51296	D	0.000000	1	0.81001	D	3.395	0.91620	M	0.57	0.54347	T	-3.31	0.65972	D	0.788	0.78451	0.012	0.82492	D	0.446	0.78209	T	10	0.16508648	0.30866	T	0.02319	0.46136	T	0.466	0.76156	.	.	0.823265127308	0.82159	0.4596927880514132	0.45887	0.173428693035	0.19532	0.395478457212	0.24438	T	0.158684	0.50181	T	-0.13874	0.30092	T	0.0223849	0.71784	D	0.151597695237339	0.17230	T	0.779322	0.41328	T	0.8688132	0.88768	0.88636106	0.94009	0.88563144	0.90137	0.87307584	0.93079	-8.856	0.66765	D	0.7138376332052604	0.79434	0.762	0.75740	P	.;.	.;.	4.694096	0.75243	26.3	0.99917509154065431	0.98518	0.97251	0.73587	D	AEFDI	0.860394	0.77825	D	0.910895644485619	0.92284	11.33537	0.82616459519788	0.91551	10.94417	0.999999861105815	0.74766	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.54	5.54	0.82907	7.932000	0.87091	11.667000	0.94056	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.714000	0.34579	0.0:0.0:1.0:0.0	18.612	0.91242	920	0.19381	Nucleoside diphosphate kinase-like domain|Nucleoside diphosphate kinase-like domain;Nucleoside diphosphate kinase-like domain|Nucleoside diphosphate kinase-like 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	0.004032	0.000000	0.001359	0.000000	0.000000	0.043103	0.000000	0.000000	0.07143	553.45	33	chr7	37896955	.	G	A	553.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.31;DP=269;ExcessHet=0;FS=0.838;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=6.51;ReadPosRankSum=-2.185;SOR=0.593	GT:AD:DP:GQ:PL	0/1:55,30:85:99:564,0,1380	6	0	1	0
chr7	40093057	40093057	G	A	exonic	CDK13	.	nonsynonymous SNV	CDK13:NM_003718:exon13:c.G3508A:p.V1170M,CDK13:NM_031267:exon13:c.G3328A:p.V1110M	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder, Autosomal dominant	432	1080	9	1	0	11	0.00506679	.	.	.	700058	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.140	0.00978280832762	0.0058	0.00139776	0.0055	0.0010	0.0017	0	0.0053	0.0081	0.0022	0.0034	0.0052328	809	154602	rs3204309	0.0073	0.0073	0.0075	0.0071	0.0086	0.0072	0.0071	0.0085	0.0084	0.0009	0.0019	0.0012	2.519e-05	0.0058	0.0021	0.0086	0.0055	0.0033	0.0049	0.0049	0.0052	0.0045	0.0076	0.0046	0.0045	0.0070	0.0068	0.0016	0	0.0040	0.0012	0.0002	0.0056	0	0.0076	0.0062	0.0039	0.037	0.65419	D	0.244	0.37730	T	0.989	0.67487	D	0.945	0.68163	D	.	.	.	.	0.871166	0.35566	D	1.845	0.48678	L	0.8	0.48769	T	-0.68	0.24676	N	0.403	0.51315	-0.8610	0.51191	T	0.151	0.47926	T	8	0.00633201	0.00143	T	0.009783	0.25518	T	0.140	0.37593	.	.	0.54588693629	0.54243	0.21203907624671997	0.21119	0.683269447753	0.60155	0.591572642326	0.51715	T	0.104544	0.41421	T	-0.391562	0.02628	T	-0.327266	0.41772	T	0.0104990411463322	0.00145	T	0.909409	0.68816	D	0.0594915	0.12097	0.106112495	0.25522	0.05701002	0.11291	0.106112495	0.25521	-4.741	0.33896	T	0.20073865318517808	0.26650	0.096	0.27583	B	.;.;.;.	.;.;.;.	4.261681	0.64772	24.7	0.9981005539677178	0.89442	0.86096	0.45314	D	AEFBI	0.346772	0.44148	N	0.529868030409742	0.68866	5.276339	0.556915937888107	0.71881	5.722686	0.981191763519693	0.30230	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.86	4.98	0.65679	3.645000	0.54129	8.707000	0.78125	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.1423:0.0:0.8577:0.0	10.595	0.44523	541	0.72942	.;.;.;.	.	.	.	.	rs3204309	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	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	2850.44	35	chr7	40093057	.	G	A	2850.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.06;DP=398;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.26;ReadPosRankSum=1.45;SOR=0.704	GT:AD:DP:GQ:PL	0/1:101,114:215:99:2861,0,2341	6	0	1	0
chr7	44007580	44007582	GGA	-	exonic	SPDYE1	.	nonframeshift deletion	SPDYE1:NM_175064:exon5:c.945_947del:p.E317del,SPDYE1:NM_001378423:exon7:c.1065_1067del:p.E357del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.505e-06	0	0	0	0	1.549e-05	0	0	3.84e-05	1	26028	rs763995436	4.107e-06	4.104e-06	4.087e-06	4.128e-06	1.16e-05	1.48e-06	9.7e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.496e-06	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	2411.79	40	chr7	44007579	.	TGGA	T	2411.79	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.51;DP=343;ExcessHet=0;FS=1.419;MLEAC=1;MLEAF=0.071;MQ=50.41;MQRankSum=1.31;QD=18.99;ReadPosRankSum=-0.305;SOR=0.865	GT:AD:DP:GQ:PL	0/1:64,63:127:99:2422,0,2456	6	0	1	0
chr7	44624507	44624507	C	T	exonic	OGDH	.	nonsynonymous SNV	OGDH:NM_001003941:exon2:c.C164T:p.S55L,OGDH:NM_001165036:exon2:c.C164T:p.S55L,OGDH:NM_001363523:exon2:c.C164T:p.S55L,OGDH:NM_002541:exon2:c.C164T:p.S55L	Alpha-ketoglutarate dehydrogenase deficiency, Autosomal recessive	9	1488	24	1	0	26	0.00866089	.	.	.	711001	not_provided|OGDH-related_disorder|Oxoglutaricaciduria	MedGen:C3661900|.|MONDO:MONDO:0008759,MedGen:C2752074,OMIM:203740,Orphanet:31	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.240	.	0.0065	0.00239617	0.0073	0.0012	0.0041	0.0001	0.0051	0.0113	0.0099	0.0013	0.0074385	1150	154602	rs2230445	0.0084	0.0084	0.0085	0.0083	0.0108	0.0083	0.0082	0.0096	0.0095	0.0012	0.0053	0.0064	0.0005	0.0069	0.0108	0.0097	0.0077	0.0017	0.0065	0.0065	0.0067	0.0063	0.0102	0.0062	0.0060	0.0096	0.0093	0.0013	0.0493	0.0056	0.0089	0	0.0054	0.0102	0.0102	0.0057	0.0010	0.002	0.78490	D	0.073	0.76473	T	0.196	0.49185	B	0.026	0.46066	B	0.000000	0.84330	D	0.000000	0.999991	0.81001	D	2.04	0.55661	M	3.18	0.44065	T	-1.04	0.79229	N	0.675	0.82761	-0.8200	0.53933	T	0.099	0.36882	T	10	0.008775711	0.00199	T	.	.	.	0.240	0.54500	.	.	0.585511498628	0.58225	0.7184091987425503	0.71783	0.468580847674	0.46195	0.668700695038	0.62653	T	0.007884	0.80993	T	-0.124402	0.32405	T	0.0602058	0.74259	D	0.0248309922447693	0.01251	T	0.967253	0.96997	D	0.75910515	0.81400	0.68841344	0.81671	0.75910515	0.81402	0.68841344	0.81672	-8.419	0.75147	D	.	.	0.258	0.68156	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.186321	0.63061	24.5	0.99880893242462043	0.95733	0.97124	0.72830	D	AEFDBI	0.737590	0.68274	D	0.303422790274948	0.56324	3.79694	0.329612306434553	0.57285	3.893858	0.999999998296174	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.74	3.85	0.43556	5.790000	0.68684	4.891000	0.45764	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.8538:0.1462:0.0	14.694	0.68723	605	0.67457	2-oxoglutarate dehydrogenase E1 component, N-terminal domain;.;2-oxoglutarate dehydrogenase E1 component, N-terminal domain;.;2-oxoglutarate dehydrogenase E1 component, N-terminal domain;2-oxoglutarate dehydrogenase E1 component, N-terminal domain;2-oxoglutarate dehydrogenase E1 component, N-terminal domain;2-oxoglutarate dehydrogenase E1 component, N-terminal domain	.	.	.	.	rs55711887	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	0.013092	0.035354	0.019022	0.000000	0.000000	0.008621	0.012195	0.007576	0.07143	661.63	37	chr7	44624507	.	C	T	661.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.02;DP=210;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.48;ReadPosRankSum=0.134;SOR=0.749	GT:AD:DP:GQ:PL	0/1:26,27:53:99:672,0,581	6	0	1	0
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	0/1:61,61:122:99:.:.:598,0,678:.	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	0/1:84,19:103:99:.:.:149,0,2687:.	3	0	4	0
chr7	48925604	48925604	T	C	exonic	CDC14C	.	nonsynonymous SNV	CDC14C:NM_152627:exon1:c.T932C:p.I311T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.546e-05	0.0007	0	0	0	3.056e-05	0	0	3.84e-05	1	26028	rs535060750	2.442e-05	3.357e-05	2.876e-05	2.009e-05	0.0001	1.758e-05	1.551e-05	4.193e-05	2.548e-05	0.0001	0	0	0	0	0	2.575e-05	5.168e-05	0	2.628e-05	5.91e-05	5.138e-05	0	7.241e-05	8.14e-06	5.14e-06	1.92e-05	1.032e-05	7.241e-05	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.30427742	0.47954	T	.	.	.	.	.	.	.	.	.	0.8052475105205883	0.80479	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.988576	0.96102	D	0.04003975	0.05641	0.16298227	0.37831	0.04003975	0.05640	0.16298227	0.37830	-10.56	0.77191	D	.	.	0.195	0.41648	B	.;.	.;.	3.565150	0.50180	22.9	0.80561412536919841	0.13261	0.51659	0.28947	D	AEFDGI	.	.	.	.	.	.	.	.	.	7.49279230425378E-5	0.04552	0.080785	0.02172	0	0.063388	0.01293	0	0.121075	0.03231	0	0.057018	0.00518	0	0.212979	0.31058	0.53	-1.06	0.09491	5.630000	0.67480	7.775000	0.68548	0.243000	0.18268	1.000000	0.71638	1.000000	0.68203	0.576000	0.30797	0.3321:0.0:0.0:0.6679	3.662	0.07780	944	0.12746	.;Dual specificity phosphatase, catalytic domain|Dual specificity protein phosphatase domain|Tyrosine specific protein phosphatases domain|Dual specificity protein phosphatase domain|Protein-tyrosine phosphatase, catalytic	.	.	.	.	.	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	160.44	66	chr7	48925604	.	T	C	160.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.871;DP=538;ExcessHet=0;FS=4.124;MLEAC=1;MLEAF=0.071;MQ=43.4;MQRankSum=-3.585;QD=1;ReadPosRankSum=2.22;SOR=1.118	GT:AD:DP:GQ:PL	0/1:136,25:161:99:171,0,3786	6	0	1	0
chr7	50368104	50368104	C	G	exonic	IKZF1	.	nonsynonymous SNV	IKZF1:NM_001291845:exon4:c.C259G:p.L87V	Immunodeficiency, common variable, 13, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.00431561606013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	.	.	.	0.001	0.07471	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	-0.5	0.15782	N	0.11	0.09631	-0.9997	0.30002	T	0.055	0.23375	T	7	0.043260276	0.03157	T	0.004316	0.10467	T	0.011	0.01250	0.272	0.22210	0.117191471859	0.11215	.	.	.	.	.	.	.	0.054479	0.29735	T	-0.291109	0.09525	T	-0.655934	0.08543	T	0.052731511290539	0.05973	T	0.256674	0.04023	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.239	0.47294	B	.	.	-1.396602	0.00363	0.007	0.40883805656463257	0.02914	0.00305	0.01619	N	AEFGBIJ	0.028154	0.02430	N	-1.474115124829	0.02034	0.08940394	-1.65084572243601	0.01371	0.06194978	0.999999998577604	0.74766	0.51972	0.21558	0	0.522029	0.08744	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.23	-8.46	0.00822	-2.694000	0.00900	-2.250000	0.03997	-0.184000	0.09925	0.000000	0.06391	0.000000	0.08366	0.068000	0.16518	0.4857:0.2045:0.187:0.1228	2.202	0.03687	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.4	315.75	84	chr7	50368104	.	C	G	315.75	.	AC=4;AF=0.4;AN=10;BaseQRankSum=-2.684;DP=728;ExcessHet=3.1439;FS=214.547;MLEAC=5;MLEAF=0.5;MQ=60;MQRankSum=0;QD=0.69;ReadPosRankSum=2.07;SOR=9.94	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:125,28:171:99:.:.:119,0,4120:.	1	0	4	2
chr7	57120475	57120475	C	T	exonic	ZNF479	.	nonsynonymous SNV	ZNF479:NM_001370129:exon4:c.G940A:p.D314N,ZNF479:NM_033273:exon5:c.G940A:p.D314N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	.	.	0.00519169	0.0014	0.0160	0.0007	0	0	6.055e-05	0	0	0.0013063	34	26028	rs200731240	0.0005	0.0005	0.0006	0.0004	0.0184	0.0005	0.0005	0.0172	0.0168	0.0184	0.0006	0	0	0	0.0012	2.249e-05	0.0011	6.96e-05	0.0053	0.0052	0.0051	0.0055	0.0191	0.0050	0.0049	0.0179	0.0175	0.0191	0	0.0013	0	0	0	0.0087	7.524e-05	0.0015	0	0.296	0.14694	T	0.332	0.18449	T	0.0	0.02946	B	0.005	0.11217	B	.	.	.	.	1	0.08975	N	-0.65	0.02095	N	2.46	0.14907	T	1.05	0.01314	N	0.074	0.05287	-1.0057	0.28247	T	0.015	0.06138	T	9	0.0046885014	0.00099	T	.	.	.	0.015	0.02232	.	.	0.0884992946249	0.08302	0.008426440903960447	0.00806	0.857081204955	0.68784	0.496663451195	0.38363	T	0.001405	0.00865	T	-0.798065	0.00008	T	-0.906168	0.00460	T	0.0109056947240009	0.00156	T	0.0176649	0.00099	T	0.018914476	0.00415	0.043652445	0.05480	0.018914476	0.00415	0.043652445	0.05480	-4.253	0.27513	T	.	.	0.176	0.41843	B	.;.	.;.	-1.751073	0.00175	0.003	0.37153069577107806	0.02431	0.00460	0.02218	N	AEFBHCI	0.014428	0.00229	N	-2.42101653980265	0.00024	0.001047963	-2.50097795372806	0.00023	0.001017316	0.00170170772213859	0.08799	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.01	-2.03	0.06959	-12.742000	0.00002	.	.	-6.784000	0.00002	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3421:0.194:0.274:0.1899	0.363	0.00342	952	0.10565	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	0.003727	0.005102	0.008174	0.004167	0.000000	0.000000	0.000000	0.000000	0.07143	1924.46	38	chr7	57120475	.	C	T	1924.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.716;DP=358;ExcessHet=0;FS=1.294;MLEAC=1;MLEAF=0.071;MQ=46.14;MQRankSum=-2.124;QD=13;ReadPosRankSum=-0.01;SOR=0.758	GT:AD:DP:GQ:PL	0/1:74,74:148:99:1935,0,1813	6	0	1	0
chr7	57126077	57126077	A	G	exonic	ZNF479	.	nonsynonymous SNV	ZNF479:NM_001370129:exon3:c.T203C:p.L68P,ZNF479:NM_033273:exon4:c.T203C:p.L68P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.106	.	0.0015	.	0.0019	0.0227	0.0007	0	0	4.68e-05	0.0011	0.0001	0.0015912	246	154602	rs368880723	0.0008	0.0009	0.0010	0.0007	0.0290	0.0008	0.0008	0.0275	0.0269	0.0290	0.0015	0	0	0	0.0017	2.878e-05	0.0021	0.0001	0.0086	0.0088	0.0086	0.0086	0.0303	0.0082	0.0081	0.0289	0.0283	0.0303	0	0.0023	0	0.0002	0	0.0068	0.0001	0.0038	0	0.0	0.91255	D	0.003	0.92824	D	0.998	0.73220	D	0.995	0.83170	D	.	.	.	.	0.969396	0.25756	N	3.155	0.88459	M	5.43	0.08898	T	-5.8	0.90608	D	0.539	0.56662	-1.0583	0.12184	T	0.016	0.06711	T	9	0.007774085	0.00177	T	.	.	.	0.106	0.30130	.	.	0.399889258716	0.39604	0.15528755531170418	0.15449	2.49876639053	0.97613	0.461199998856	0.33475	T	0.076139	0.42537	T	-0.146612	0.28842	T	-0.448375	0.27876	T	0.125320443948638	0.14943	T	0.605739	0.23533	T	0.21603887	0.44052	0.1753927	0.40001	0.21603887	0.44052	0.1753927	0.40000	-8.828	0.66583	D	.	.	0.564	0.69726	P	.;.;.	.;.;.	2.491709	0.32145	18.96	0.9920685062599307	0.55472	0.02451	0.06895	N	AEFI	0.041823	0.06409	N	-0.128800907833271	0.36141	2.085122	-0.497787039487669	0.22215	1.205506	2.0572787826891E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.25	1.25	0.20475	1.091000	0.30526	.	.	0.351000	0.19951	0.216000	0.24491	0.082000	0.22400	0.006000	0.07323	1.0:0.0:0.0:0.0	4.59	0.11696	952	0.10565	Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box	.	.	.	.	.	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	0.005285	0.005051	0.010870	0.004098	0.000000	0.000000	0.000000	0.000000	0.07143	419.44	35	chr7	57126077	.	A	G	419.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.448;DP=287;ExcessHet=0;FS=3.851;MLEAC=1;MLEAF=0.071;MQ=47.18;MQRankSum=-4.612;QD=4.71;ReadPosRankSum=0.39;SOR=1.225	GT:AD:DP:GQ:PL	0/1:67,22:89:99:430,0,1744	6	0	1	0
chr7	64978838	64978838	C	T	exonic	ERV3-1-ZNF117;ZNF117	.	nonsynonymous SNV	ERV3-1-ZNF117:NM_001348050:exon4:c.G733A:p.G245R,ZNF117:NM_015852:exon4:c.G733A:p.G245R	.	430	1091	0	1	0	2	0.000915751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.00133733774499	0.0029	0.00159744	0.0009	0.0098	0.0006	0.0001	0	3.002e-05	0.0011	0.0004	0.0008409	130	154602	rs191281341	0.0003	0.0003	0.0003	0.0003	0.0087	0.0003	0.0003	0.0079	0.0076	0.0087	0.0006	0	2.521e-05	0	0.0012	4.407e-05	0.0009	0.0003	0.0023	0.0023	0.0024	0.0022	0.0080	0.0021	0.0020	0.0073	0.0071	0.0080	0	0.0007	0	0	0	0.0034	5.89e-05	0.0005	0	0.08	0.33585	T	0.049	0.48336	D	0.932	0.51990	P	0.292	0.40739	B	.	.	.	.	0.863501	0.28319	N	1.45	0.36711	L	1.75	0.26152	T	-5.39	0.85027	D	0.114	0.24758	-1.0049	0.28487	T	0.044	0.18742	T	9	0.005428523	0.00120	T	0.001337	0.01910	T	0.035	0.08770	0.577	0.70217	0.317084106153	0.31322	0.010138042777405026	0.00975	0.0195584975394	0.01915	.	.	.	0.062194	0.31851	T	-0.596718	0.00153	T	-0.623523	0.10911	T	0.040026051709193	0.03695	T	0.107789	0.05521	T	0.11730034	0.27655	0.16630776	0.38428	0.11730034	0.27655	0.16630776	0.38427	-5.773	0.44338	T	.	.	0.172	0.38764	B	.;.;.	.;.;.	1.025853	0.14055	10.63	0.90349532116100995	0.19614	0.00277	0.01499	N	AEFDBHCI	0.037801	0.05254	N	-0.498404361498895	0.22133	1.179681	-0.752351643754163	0.15665	0.8249718	0.0170867467141634	0.12910	0.706298	0.61202	0	0.709663	0.81188	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	1.2	0.197	0.14443	0.519000	0.22570	.	.	0.284000	0.18682	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.7482:0.0:0.2518	5.068	0.13930	716	0.55970	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	0.001511	0.000000	0.002717	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	982.53	39	chr7	64978838	.	C	T	982.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.52;DP=270;ExcessHet=0;FS=1.867;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.44;ReadPosRankSum=-1.091;SOR=1.002	GT:AD:DP:GQ:PL	0/1:42,37:79:99:993,0,1073	6	0	1	0
chr7	64992080	64992080	T	G	exonic	ERV3-1	.	nonsynonymous SNV	ERV3-1:NM_001007253:exon2:c.A947C:p.N316T	.	426	1095	0	1	0	2	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	.	0.0037	0.00199681	0.0010	0.0122	0.0005	0	0	0	0.0011	6.073e-05	0.0009314	144	154602	rs138378166	0.0005	0.0005	0.0006	0.0004	0.0118	0.0004	0.0004	0.0104	0.0099	0.0118	0.0007	0	0	0	0.0012	2.572e-05	0.0012	4.298e-05	0.0030	0.0030	0.0031	0.0029	0.0105	0.0028	0.0027	0.0096	0.0093	0.0105	0	0.0010	0	0	0	0.0034	7.35e-05	0.0014	0	0.064	0.36509	T	.	.	.	0.007	0.14184	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0	0.06538	N	2.74	0.11730	T	-1.38	0.34198	N	0.278	0.31478	-0.9748	0.36170	T	0.011	0.04321	T	8	0.0029880404	0.00049	T	.	.	.	0.009	0.00846	.	.	0.0138822411134	0.00435	0.144533313826204	0.14376	0.045244591654	0.04904	0.544516205788	0.45084	T	0.00323	0.02636	T	-0.648937	0.00073	T	-0.694541	0.06129	T	0.00168620951778846	0.00017	T	0.389061	0.09624	T	0.06571717	0.14072	0.09113069	0.21408	0.06571717	0.14072	0.09113069	0.21407	-4.353	0.28914	T	.	.	0.202	0.42578	B	.	.	0.260994	0.06395	2.861	0.55670200088386779	0.05390	0.00355	0.01825	N	AEBI	0.028884	0.02626	N	-1.21976019119449	0.04714	0.2133409	-1.30039403089968	0.04426	0.2087303	0.880471116222338	0.25608	0.732398	0.92422	0	0.709663	0.81188	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	0.109	0.109	0.13884	0.204000	0.17133	.	.	0.232000	0.18153	0.111000	0.23011	0.302000	0.24225	0.137000	0.19835	.	.	.	716	0.55970	.	.	.	.	.	.	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	0.005051	0.006793	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	1807.44	36	chr7	64992080	.	T	G	1807.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.11;DP=383;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.47;ReadPosRankSum=-0.717;SOR=0.694	GT:AD:DP:GQ:PL	0/1:77,68:145:99:1818,0,1833	6	0	1	0
chr7	70789938	70789938	G	C	exonic	AUTS2	.	nonsynonymous SNV	AUTS2:NM_001127231:exon18:c.G2650C:p.E884Q,AUTS2:NM_015570:exon19:c.G2722C:p.E908Q	Mental retardation, autosomal dominant 26, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.173	0.0503403982078	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.68238	D	0.105	0.40267	T	0.99	0.63424	D	0.839	0.60107	P	0.000088	0.51296	D	0.201130	0.999998	0.58761	D	2.005	0.54552	M	1.29	0.36330	T	-1.82	0.43524	N	0.214	0.34120	-0.8681	0.50672	T	0.167	0.50665	T	9	0.31848985	0.49247	T	0.05034	0.64202	D	0.173	0.43840	0.128	0.03331	0.436332547184	0.43250	0.11124570767184054	0.11053	1.19215792285	0.80307	0.707380771637	0.68214	T	0.158243	0.50117	T	-0.0565057	0.43452	T	-0.318943	0.42692	T	0.904888331890106	0.55847	D	0.910209	0.72903	D	0.23327723	0.46130	0.24612068	0.50115	0.23327723	0.46130	0.24612068	0.50114	-4.822	0.35589	T	0.4365778390192418	0.52281	0.224	0.50259	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.600400	0.72850	25.9	0.99803823790116208	0.88817	0.98622	0.84808	D	AEFDBCI	0.917190	0.88445	D	0.629197174576131	0.75027	6.234266	0.610106235117678	0.75672	6.352297	0.999999999913575	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.564101	0.26826	0	.	.	4.28	4.28	0.50183	9.439000	0.96737	11.833000	0.97585	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.784000	0.37066	0.0:0.0:1.0:0.0	16.940	0.86086	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	.	.	.	.	.	.	.	.	0.07143	1619.44	33	chr7	70789938	.	G	C	1619.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.307;DP=295;ExcessHet=0;FS=0.756;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.42;ReadPosRankSum=-0.969;SOR=0.829	GT:AD:DP:GQ:PL	0/1:39,66:105:99:1630,0,832	6	0	1	0
chr7	72928446	72928446	C	G	exonic	POM121	.	nonsynonymous SNV	POM121:NM_172020:exon5:c.C289G:p.P97A,POM121:NM_001257190:exon7:c.C289G:p.P97A,POM121:NM_001367610:exon8:c.C289G:p.P97A	.	422	1097	2	0	1	3	0.000910747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.0113430842663	.	.	2.471e-05	0	0	0	0	4.495e-05	0	0	1.94e-05	3	154602	rs782717773	8.209e-06	8.209e-06	5.445e-06	1.1e-05	1.079e-05	4.38e-06	3.46e-06	5.75e-06	4.55e-06	0	0	0	0	0	0	1.079e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	0.30943	T	0.094	0.48336	T	0.773	0.44016	P	0.454	0.46241	P	0.000916	0.41128	D	0.000000	0.853919	0.35269	D	3.06	0.86941	M	2.6	0.13204	T	-3.55	0.71997	D	0.707	0.71410	-0.9754	0.36037	T	0.076	0.30460	T	10	0.48461992	0.60634	T	0.011343	0.28865	T	0.101	0.28911	0.189	0.09907	0.0716867268079	0.06686	0.2836055586835695	0.28273	.	.	0.708786070347	0.68418	T	0.141326	0.47634	T	-0.199219	0.20917	T	-0.39349	0.34142	T	0.632642686367035	0.37728	D	0.779122	0.44782	T	0.11956952	0.28152	0.12560014	0.30259	0.11956952	0.28152	0.12560014	0.30259	-7.38	0.57779	T	.	.	0.162	0.38190	B	.;.;.;.;.	.;.;.;.;.	3.832571	0.55413	23.6	0.98625080283263178	0.43825	0.91544	0.53752	D	AEFDBHCI	0.428603	0.49206	N	0.296174053694605	0.55955	3.759598	0.237252460479787	0.51927	3.371197	0.99966678965058	0.41534	0.712529	0.81865	0	0.702456	0.74545	0	0.702456	0.68683	0	0.691587	0.68394	0	.	.	4.0	3.1	0.34780	5.627000	0.67460	4.906000	0.45906	0.328000	0.19510	1.000000	0.71638	1.000000	0.68203	0.466000	0.28252	0.1959:0.8041:0.0:0.0	10.406	0.43442	424	0.81215	.;.;.;.;.	.	.	.	.	.	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	1780.44	35	chr7	72928446	.	C	G	1780.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.36;DP=318;ExcessHet=0;FS=1.475;MLEAC=1;MLEAF=0.071;MQ=59.93;MQRankSum=1.29;QD=14.71;ReadPosRankSum=0.302;SOR=0.562	GT:AD:DP:GQ:PL	0/1:46,75:121:99:1791,0,1007	6	0	1	0
chr7	73834825	73834825	G	A	exonic	METTL27	.	nonsynonymous SNV	METTL27:NM_152559:exon6:c.C656T:p.P219L	.	409	1096	16	1	0	18	0.0081448	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.0124194452689	0.0015	0.000199681	0.0017	0.0002	0.0008	0.0001	0.0009	0.0026	0.0045	0.0012	0.0015847	245	154602	rs141298816	0.0015	0.0015	0.0015	0.0014	0.0113	0.0014	0.0014	0.0091	0.0083	0.0006	0.0010	0.0092	5.038e-05	0.0003	0.0113	0.0014	0.0027	0.0010	0.0011	0.0011	0.0012	0.0009	0.0013	0.0009	0.0009	0.0010	0.0010	0.0002	0	0.0013	0.0095	0	0.0002	0.0068	0.0013	0.0019	0.0010	0.898	0.02436	T	1.0	0.01155	T	0.007	0.14184	B	0.002	0.06944	B	0.031227	0.01733	N	2.414770	1	0.08975	N	.	.	.	0.35	0.58029	T	0.93	0.01551	N	0.033	0.00882	-1.0776	0.07821	T	0.070	0.28412	T	10	0.0039233267	0.00075	T	0.012419	0.30977	T	0.019	0.03383	.	.	0.0611884634855	0.05136	0.4536783851468046	0.45285	0.12256426211	0.13811	0.331509172916	0.15162	T	4.8E-4	0.00176	T	-0.638452	0.00085	T	-0.703098	0.05659	T	0.00296961541242298	0.00031	T	0.278472	0.04815	T	0.022284659	0.00881	0.02799418	0.00997	0.022284659	0.00880	0.02799418	0.00996	-4.004	0.23864	T	.	.	0.074	0.05060	B	.	.	-0.813875	0.01079	0.048	0.84198002121136706	0.15153	0.00981	0.03737	N	AEFDBHI	0.050429	0.08812	N	-1.58592246858239	0.01336	0.05821189	-1.67700321658116	0.01242	0.05598409	0.999971115554335	0.50053	0.695654	0.57023	0	0.633656	0.55848	0	0.723109	0.80598	0	0.699875	0.68795	0	.	.	4.76	-6.87	0.01511	-2.497000	0.01046	-1.303000	0.05769	-1.731000	0.00715	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.4394:0.2366:0.2045:0.1194	1.813	0.02907	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	0.018127	0.000000	0.023098	0.023392	0.000000	0.034483	0.024390	0.007576	0.07143	1381.44	34	chr7	73834825	.	G	A	1381.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.44;DP=329;ExcessHet=0;FS=2.218;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.39;ReadPosRankSum=-0.408;SOR=0.893	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:75,58:133:99:0|1:73834825_G_A:1392,0,2892:73834825	6	0	1	0
chr7	74376703	74376703	C	T	exonic	CLIP2	.	nonsynonymous SNV	CLIP2:NM_032421:exon9:c.C2197T:p.R733W,CLIP2:NM_003388:exon10:c.C2302T:p.R768W	.	.	.	.	.	.	.	.	.	.	.	722639	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.071	.	0.0051	0.00439297	0.0015	0.0159	0.0007	0	0	5.063e-05	0	6.871e-05	0.0011449	177	154602	rs75721312	0.0003	0.0003	0.0003	0.0003	0.0116	0.0003	0.0003	0.0107	0.0103	0.0116	0.0007	0	0	3.755e-05	0.0014	1.169e-05	0.0007	3.492e-05	0.0034	0.0034	0.0035	0.0033	0.0123	0.0032	0.0031	0.0114	0.0110	0.0123	0	0.0006	0	0	0	0	2.941e-05	0.0005	0.0002	0.005	0.63226	D	0.015	0.63918	D	0.61	0.39628	P	0.235	0.38432	B	0.594827	0.05612	N	1.311950	0.999182	0.22091	N	0.69	0.16971	N	0.27	0.59176	T	-1.39	0.36385	N	0.271	0.33687	-0.9914	0.32244	T	0.074	0.29802	T	10	0.005116284	0.00111	T	.	.	.	0.071	0.20720	.	.	0.204265027416	0.20035	0.2208158935805304	0.21996	0.341448690229	0.36074	0.409976750612	0.26454	T	0.157914	0.50073	T	-0.529807	0.00385	T	-0.522776	0.20014	T	0.0215977035219834	0.00864	T	0.972003	0.90829	D	0.051048208	0.09317	0.057409152	0.10430	0.051048208	0.09317	0.057409152	0.10430	-7.723	0.59167	D	.	.	0.103	0.18289	B	.;.;.	.;.;.	3.144264	0.42536	21.6	0.99696612381171124	0.80316	0.27175	0.23203	N	AEFDBHCI	0.343921	0.43958	N	-0.45861880110541	0.23449	1.259297	-0.403332822465343	0.24899	1.366115	6.65043260620787E-4	0.07575	0.706548	0.73137	0	0.697927	0.68747	0	0.570548	0.19454	0	0.714379	0.83352	0	.	.	4.8	0.402	0.15565	0.701000	0.25293	0.028000	0.13690	-0.176000	0.10722	0.397000	0.26145	0.033000	0.21346	0.849000	0.40138	0.3295:0.2083:0.4622:0.0	7.925	0.29034	917	0.20147	.;.;.	.	.	.	.	.	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	0.000505	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	1447.44	34	chr7	74376703	.	C	T	1447.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.416;DP=316;ExcessHet=0;FS=0.659;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.4;ReadPosRankSum=0.183;SOR=0.6	GT:AD:DP:GQ:PL	0/1:62,65:127:99:1458,0,1324	6	0	1	0
chr7	75888171	75888171	T	C	exonic	RHBDD2	.	nonsynonymous SNV	RHBDD2:NM_001346188:exon3:c.T509C:p.V170A,RHBDD2:NM_001346189:exon3:c.T473C:p.V158A,RHBDD2:NM_001040456:exon4:c.T917C:p.V306A,RHBDD2:NM_001346187:exon4:c.T494C:p.V165A,RHBDD2:NM_001040457:exon5:c.T494C:p.V165A,RHBDD2:NM_001346186:exon6:c.T494C:p.V165A	.	8	1485	29	0	0	29	0.00966989	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.0182421806745	0.0035	0.00219649	0.0041	0.0007	0.0016	0	0.0017	0.0044	0.0034	0.0097	0.0039586	612	154602	rs201365073	0.0046	0.0046	0.0043	0.0048	0.0099	0.0045	0.0044	0.0093	0.0091	0.0007	0.0025	0.0089	0	0.0013	0.0064	0.0046	0.0044	0.0099	0.0031	0.0031	0.0031	0.0030	0.0079	0.0028	0.0028	0.0059	0.0052	0.0007	0	0.0035	0.0078	0.0002	0.0026	0.0103	0.0042	0.0028	0.0079	0.005	0.63226	D	0.092	0.44501	T	0.068	0.23728	B	0.021	0.19346	B	0.014936	0.28389	N	0.260739	0.895229	0.29212	N	2.125	0.59049	M	1.2	0.37405	T	-0.02	0.34596	N	0.137	0.13484	-1.0982	0.04315	T	0.034	0.14726	T	10	0.0041790903	0.00083	T	0.018242	0.40237	T	0.072	0.21020	.	.	0.134007934775	0.12933	0.37631953019399833	0.37545	0.777774367674	0.65122	0.638800263405	0.58393	T	0.031619	0.22125	T	-0.495124	0.00609	T	-0.476026	0.24869	T	0.0108195274545807	0.00154	T	0.680532	0.28920	T	0.040389422	0.05755	0.058214545	0.10720	0.040389422	0.05754	0.058214545	0.10720	-2.568	0.06264	T	.	.	0.478	0.64759	A	.;.;.	.;.;.	3.055605	0.41018	21.3	0.99669612393513707	0.78523	0.18119	0.20127	N	AEFDBCI	0.112411	0.22219	N	-0.50527461926774	0.21909	1.166165	-0.408494840066542	0.24747	1.356952	0.998002612284946	0.36301	0.706548	0.73137	0	0.702456	0.74545	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.1	3.89	0.44098	0.925000	0.28392	4.985000	0.46489	0.651000	0.53179	0.007000	0.17678	1.000000	0.68203	0.731000	0.35132	0.0:0.0999:0.1932:0.7069	4.790	0.12614	706	0.57215	.;.;.	.	.	.	.	.	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	0.007049	0.000000	0.006793	0.017544	0.000000	0.008621	0.009146	0.000000	0.07143	1327.53	36	chr7	75888171	.	T	C	1327.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.349;DP=294;ExcessHet=0;FS=0.719;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.41;ReadPosRankSum=-0.028;SOR=0.785	GT:AD:DP:GQ:PL	0/1:51,56:107:99:1338,0,1264	6	0	1	0
chr7	89333386	89333386	A	G	exonic	ZNF804B	.	nonsynonymous SNV	ZNF804B:NM_181646:exon4:c.A404G:p.Y135C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.238	0.00338227170105	.	.	.	.	.	.	.	.	.	.	.	.	.	rs772556687	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.577e-06	6.568e-06	1.286e-05	0	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.033	0.44358	D	0.185	0.34124	T	0.117	0.26519	B	0.019	0.18783	B	0.828953	0.09121	N	0.916984	0.555043	0.31303	N	2.05	0.56469	M	2.3	0.16953	T	-4.68	0.79659	D	0.593	0.61256	-1.0078	0.27603	T	0.020	0.08407	T	10	0.25192264	0.42539	T	0.003382	0.07572	T	0.238	0.54217	0.529	0.63560	0.176091768786	0.17195	0.33240035492913383	0.33153	0.272279200615	0.29743	0.474270224571	0.35268	T	0.047277	0.27676	T	-0.0174067	0.49222	T	-0.26278	0.48547	T	0.682571232318878	0.39905	D	0.768023	0.40374	T	0.15912147	0.35760	0.23082563	0.48196	0.15912147	0.35760	0.23082563	0.48195	-4.679	0.33149	T	.	.	0.183	0.39681	B	.;.	.;.	2.962720	0.39457	21.0	0.97946387393654055	0.37071	0.85024	0.44125	D	AEFI	0.563603	0.57073	D	-0.392938753113565	0.25719	1.398291	-0.224034719633668	0.30677	1.729323	1.43385590717172E-4	0.05573	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.4	1.34	0.21018	3.017000	0.49302	3.525000	0.38921	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.36:0.0:0.0834:0.5567	5.726	0.17280	911	0.21964	.;.	.	.	.	.	.	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	311.63	27	chr7	89333386	.	A	G	311.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.439;DP=174;ExcessHet=0;FS=1.651;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.74;ReadPosRankSum=1.79;SOR=0.33	GT:AD:DP:GQ:PL	0/1:19,13:32:99:322,0,571	6	0	1	0
chr7	92517375	92517375	C	G	exonic	PEX1	.	nonsynonymous SNV	PEX1:NM_000466:exon5:c.G1140C:p.K380N,PEX1:NM_001282677:exon5:c.G1140C:p.K380N,PEX1:NM_001282678:exon5:c.G516C:p.K172N	Heimler syndrome 1, Autosomal recessive;Peroxisome biogenesis disorder 1A (Zellweger), Autosomal recessive;Peroxisome biogenesis disorder 1B (NALD/IRD), Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109	0.0475338403156	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.279	0.17584	T	0.336	0.25061	T	0.363	0.33965	B	0.075	0.28327	B	0.019306	0.27286	N	0.456434	1	0.08975	N	2.045	0.56016	M	-3.4	0.94469	D	-1.55	0.37566	N	0.155	0.17691	-0.3587	0.73301	T	0.603	0.85889	D	10	0.08887786	0.15343	T	0.047534	0.62965	D	0.109	0.30843	0.401	0.43081	0.716802317414	0.71431	0.3910058426918759	0.39015	0.186505350035	0.20959	0.336459964514	0.15907	T	0.062784	0.36043	T	-0.00308928	0.51229	T	-0.242214	0.50583	T	0.312265932559967	0.25507	T	0.59684	0.22875	T	0.09054874	0.21191	0.05573271	0.09829	0.09054874	0.21190	0.05573271	0.09828	-3.984	0.23563	T	0.11421790710218607	0.10084	0.114	0.29367	B	.;.	.;.	0.689255	0.10580	7.285	0.99365745136551376	0.61198	0.16758	0.19535	N	AEFBI	0.121693	0.23648	N	-0.700700529756348	0.16002	0.8114796	-0.702350992884245	0.16902	0.8963152	0.234847843809107	0.18506	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.655142	0.61905	0	.	.	5.94	3.12	0.34986	0.347000	0.19760	0.241000	0.16308	0.599000	0.40250	0.025000	0.20085	0.001000	0.17328	0.697000	0.34049	0.2559:0.5066:0.0:0.2375	4.650	0.11978	798	0.45050	.;.	.	.	.	.	.	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	178.64	66	chr7	92517375	.	C	G	178.64	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.983;DP=439;ExcessHet=0;FS=177.479;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=1.88;ReadPosRankSum=0.863;SOR=7.824	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:76,19:100:99:.:.:189,0,1965:.	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	0/1:155,30:194:99:.:.:321,0,5691:.	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	0/1:155,42:197:99:.:.:430,0,5671:.	2	0	5	0
chr7	93996297	93996297	C	G	exonic	BET1	.	nonsynonymous SNV	BET1:NM_001317739:exon3:c.G169C:p.V57L,BET1:NM_005868:exon3:c.G169C:p.V57L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.134	0.0280556482367	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1226283124	1.121e-05	1.505e-05	8.372e-06	1.407e-05	1.465e-05	6.64e-06	5.37e-06	8.67e-06	7.02e-06	0	0	0	0	0	0	1.465e-05	0	0	6.595e-06	6.574e-06	1.289e-05	0	1.474e-05	0	0	.	.	0	0	0	0	0	0	0	1.474e-05	0	0	0.068	0.91255	T	0.076	0.92824	T	0.254	0.31272	B	0.323	0.41825	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.12	0.58754	M	.	.	.	-2.32	0.54382	N	0.596	0.67391	-0.5390	0.67201	T	0.336	0.70273	T	9	0.39718962	0.55310	T	0.028056	0.50789	D	0.197	0.47942	0.642	0.77903	0.345175991111	0.34120	0.4947836147715056	0.49399	0.203680317947	0.22786	0.664033174515	0.61986	T	0.21914	0.66025	T	0.345049	0.86175	D	0.257863	0.85992	D	0.758107244968414	0.43743	D	0.952005	0.88094	D	0.4227829	0.62276	0.33796772	0.59580	0.4227829	0.62277	0.33796772	0.59579	-6.28	0.48563	T	.	.	0.866	0.84405	P	.;.;.	.;.;.	4.146416	0.62163	24.4	0.99711438997443591	0.81353	0.97968	0.78509	D	AEFBI	0.677347	0.64208	D	0.25259867354802	0.53766	3.544266	0.340834713044124	0.57958	3.963703	0.999996830958607	0.74766	0.732398	0.92422	0	0.633656	0.55848	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	4.74	4.74	0.59717	4.689000	0.61410	4.459000	0.43452	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	17.024	0.86315	635	0.64580	Target SNARE coiled-coil homology domain|Target SNARE coiled-coil homology domain|BET1, SNARE domain;.;Target SNARE coiled-coil homology domain|BET1, SNARE 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	.	.	.	.	.	.	.	.	0.1429	86.26	51	chr7	93996297	.	C	G	86.26	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-2.586;DP=373;ExcessHet=0.3476;FS=531.337;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=0.73;ReadPosRankSum=1.1;SOR=9.21	GT:AD:DP:GQ:PL	0/1:49,23:72:49:49,0,749	5	0	2	0
chr7	98851507	98851507	T	G	exonic	TMEM130	.	nonsynonymous SNV	TMEM130:NM_001134451:exon5:c.A614C:p.D205A,TMEM130:NM_001134450:exon6:c.A920C:p.D307A,TMEM130:NM_152913:exon6:c.A920C:p.D307A	.	428	1091	3	0	0	3	0.001373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	.	0.0011	0.0061901	0.0078	0.0013	0.0484	0.0006	0.0165	0.0030	0.0089	0.0033	0.0072703	1124	154602	rs145989307	0.0029	0.0029	0.0031	0.0027	0.0475	0.0028	0.0028	0.0458	0.0452	0.0005	0.0475	0.0008	0.0010	0.0178	0.0010	0.0005	0.0031	0.0035	0.0045	0.0044	0.0041	0.0048	0.0229	0.0042	0.0041	0.0209	0.0202	0.0013	0.0022	0.0229	0.0014	0.0008	0.0162	0	0.0010	0.0062	0.0025	0.031	0.45039	D	0.129	0.40747	T	0.103	0.29860	B	0.085	0.29395	B	0.037121	0.24440	N	0.394655	1	0.08975	N	2.075	0.57047	M	-0.25	0.67011	T	-1.03	0.27052	N	0.463	0.51226	-0.9879	0.33126	T	0.093	0.35390	T	10	0.0062393546	0.00141	T	.	.	.	0.087	0.25287	.	.	0.633545781819	0.63054	0.441437285070301	0.44060	0.216282985703	0.24154	0.393719613552	0.24193	T	0.060934	0.31519	T	-0.403399	0.02199	T	-0.316461	0.42960	T	0.00268141777118579	0.00028	T	0.562144	0.19728	T	0.034766253	0.03964	0.042509936	0.05079	0.034766253	0.03964	0.042509936	0.05079	-10.153	0.76438	D	.	.	0.120	0.32469	B	.;.;.;.	.;.;.;.	2.600596	0.33751	19.43	0.979059833147637	0.36780	0.03457	0.08605	N	AEFDBI	0.072850	0.14552	N	-0.635733177265275	0.17878	0.923736	-0.657466063600771	0.18029	0.9612872	0.00670121264416257	0.11287	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.16	1.17	0.19998	1.239000	0.32322	1.009000	0.23318	-0.179000	0.10443	0.002000	0.15269	0.013000	0.20296	0.960000	0.51673	0.1547:0.1795:0.16:0.5058	0.921	0.01233	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	1	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.07143	1241.46	34	chr7	98851507	.	T	G	1241.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.826;DP=296;ExcessHet=0;FS=1.514;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.18;ReadPosRankSum=-1.009;SOR=0.538	GT:AD:DP:GQ:PL	0/1:57,54:111:99:1252,0,1308	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|1:48,22:70:99:0|1:100175805_G_C:524,0,1877:100175805	0	0	6	1
chr7	100359506	100359506	C	0	exonic	PILRB	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	1730.04	34	chr7	100359506	.	C	*	1730.04	.	AC=2;AF=0.143;AN=14;DP=419;ExcessHet=0;FS=10.23;MLEAC=2;MLEAF=0.143;MQ=60;QD=6.98;SOR=1.327	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:63,76:139:99:.:.:2966,0,2416:.	5	0	2	0
chr7	100399831	100399831	C	T	exonic	PILRA	.	nonsynonymous SNV	PILRA:NM_178272:exon6:c.C617T:p.S206L,PILRA:NM_013439:exon7:c.C836T:p.S279L	.	431	1049	39	3	0	45	0.0209986	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	.	0.0118	0.00559105	0.0113	0.0020	0.0019	0.0001	0.0088	0.0147	0.0067	0.0173	0.0106661	1649	154602	rs34266222	0.0099	0.0099	0.0096	0.0101	0.0176	0.0097	0.0097	0.0169	0.0166	0.0015	0.0022	0.0518	0	0.0092	0.0080	0.0092	0.0113	0.0176	0.0083	0.0083	0.0083	0.0082	0.0160	0.0079	0.0077	0.0131	0.0120	0.0020	0.0022	0.0032	0.0547	0	0.0084	0.0136	0.0109	0.0085	0.0160	0.113	0.91255	T	0.243	0.34837	T	0.053	0.29046	B	0.019	0.30579	B	0.005733	0.32555	N	0.000000	1	0.08975	N	1.355	0.33814	L	0.65	0.52642	T	-1.96	0.45404	N	0.161	0.19995	-1.0669	0.10108	T	0.042	0.17869	T	9	0.0024999976	0.00038	T	.	.	.	0.051	0.14325	.	.	.	.	0.11323491982903096	0.11251	0.176822401337	0.19894	0.318505644798	0.13194	T	0.02106	0.16467	T	-0.536475	0.00352	T	-0.529105	0.19376	T	0.00560833987177457	0.00061	T	0.605339	0.22755	T	0.033658035	0.03627	0.044622328	0.05823	0.033658035	0.03627	0.044622328	0.05823	-3.657	0.18685	T	.	.	0.086	0.10787	B	.;.	.;.	1.285668	0.16857	12.81	0.89942232312080983	0.19239	0.05843	0.11786	N	AEFDBI	0.026036	0.01885	N	-1.08455630630354	0.06927	0.3203013	-1.08829502313267	0.07930	0.3877462	0.96931527846712	0.29119	0.706548	0.73137	0	0.724815	0.89359	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	5.24	2.46	0.29032	0.917000	0.28286	1.313000	0.25551	-0.997000	0.01825	0.035000	0.20724	0.179000	0.23406	0.001000	0.02609	0.1586:0.6712:0.0:0.1703	5.521	0.16222	450	0.79359	.;.	.	.	.	.	rs34266222	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	0.008808	0.000000	0.001359	0.003497	0.000000	0.008621	0.030488	0.015152	0.07143	1706.53	34	chr7	100399831	.	C	T	1706.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.575;DP=314;ExcessHet=0;FS=2.174;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.55;ReadPosRankSum=-0.663;SOR=0.934	GT:AD:DP:GQ:PL	0/1:64,72:136:99:1717,0,1577	6	0	1	0
chr7	100430065	100430065	C	G	exonic	MEPCE	.	nonsynonymous SNV	MEPCE:NM_019606:exon1:c.C47G:p.P16R	.	418	1068	33	3	0	39	0.017931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.157	.	.	0.00419329	0.0139	0	0	0	.	0.0172	0	.	0.0018176	281	154602	rs199973116	0.0081	0.0072	0.0080	0.0081	0.0098	0.0079	0.0079	0.0089	0.0085	0.0012	0.0032	0.0509	0	0.0083	0.0057	0.0077	0.0090	0.0098	0.0073	0.0073	0.0073	0.0074	0.0098	0.0070	0.0068	0.0092	0.0089	0.0016	0.0022	0.0028	0.0539	0	0.0084	0.0137	0.0098	0.0071	0.0093	0.0	0.91255	D	0.017	0.60337	D	0.745	0.43117	P	0.379	0.43814	B	0.005621	0.32637	N	0.258875	0.963578	0.81001	D	0.805	0.20218	L	.	.	.	-0.91	0.24460	N	0.331	0.37197	-0.9652	0.38171	T	0.095	0.35924	T	9	0.0018439889	0.00025	T	.	.	.	0.157	0.40909	.	.	.	.	0.26793003146708916	0.26706	2.17442915589	0.95526	0.828219890594	0.86290	D	0.018325	0.14790	T	-0.293152	0.09323	T	-0.180895	0.56441	T	0.254844997344268	0.23088	T	0.705929	0.31637	T	0.48726183	0.66339	0.64499366	0.79246	0.48726183	0.66340	0.64499366	0.79247	-5.444	0.41340	T	.	.	0.215	0.44410	B	.	.	4.713673	0.75756	26.4	0.99648057004549251	0.77130	0.94441	0.61176	D	ALL	0.384185	0.46541	N	0.124235174134317	0.47594	2.983037	0.250858761020688	0.52699	3.44294	0.999999999996069	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.519653	0.09787	0	0.249971	0.05119	0	.	.	5.0	5.0	0.66209	3.119000	0.50115	7.453000	0.58980	0.520000	0.23804	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	13.784	0.62585	463	0.78548	.	.	.	.	.	.	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	0.005325	0.000000	0.003390	0.000000	0.000000	0.000000	0.014388	0.014019	0.07143	441.63	17	chr7	100430065	.	C	G	441.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.433;DP=143;ExcessHet=0;FS=3.127;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.99;ReadPosRankSum=2.31;SOR=0.99	GT:AD:DP:GQ:PL	0/1:14,20:34:99:452,0,295	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|1:473,172:751:99:0|1:100952942_T_G:5798,0,19343:100952942	2	0	5	0
chr7	100953156	100953156	C	0	exonic	MUC3A	.	.	.	.	685	537	148	21	131	321	0.150316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	2524.47	366	chr7	100953156	.	C	*	2524.47	.	AC=5;AF=0.357;AN=14;BaseQRankSum=5.53;DP=2898;ExcessHet=14.2834;FS=12.235;MLEAC=5;MLEAF=0.357;MQ=57.21;MQRankSum=-14.31;QD=0.88;ReadPosRankSum=-1.217;SOR=1.446	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:484,158:717:99:0|1:100953098_G_C:5177,0,19847:100953098	2	0	5	0
chr7	100953158	100953158	G	0	exonic	MUC3A	.	.	.	.	651	699	39	0	133	172	0.0271399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	1571.47	359	chr7	100953158	.	G	*	1571.47	.	AC=5;AF=0.357;AN=14;BaseQRankSum=3.2;DP=2855;ExcessHet=14.2834;FS=12.608;MLEAC=5;MLEAF=0.357;MQ=57.2;MQRankSum=-14.61;QD=0.57;ReadPosRankSum=-1.192;SOR=1.561	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:484,146:705:99:.:.:4674,0,19884:.	2	0	5	0
chr7	100954883	100954883	C	T	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.C3104T:p.T1035I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1291895937	1.811e-05	0.0004	2.487e-05	1.174e-05	0.0001	7.51e-06	5.28e-06	6.5e-06	3.04e-06	0.0001	9.083e-05	0	0	0	0	1.926e-05	0	0	1.339e-05	0.0013	1.309e-05	1.371e-05	0.0002	2.23e-06	8.3e-07	.	.	2.488e-05	0	0	0	0.0002	0	0	0	0	0	.	.	.	0.01	0.65728	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.01203	.	.	.	.	.	.	.	0.08443788	0.14151	T	.	.	.	.	.	.	.	.	.	0.037606147477919044	0.03706	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.321068	0.06505	T	.	.	.	.	.	.	.	.	-7.484	0.57498	T	.	.	0.175	0.38281	B	.;.	.;.	0.733817	0.11029	7.687	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.171000	0.16497	-7.960000	0.01054	-1.062000	0.01615	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	462.44	442	chr7	100954883	.	C	T	462.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.26;DP=3127;ExcessHet=0;FS=2.065;MLEAC=1;MLEAF=0.071;MQ=58.99;MQRankSum=-19.81;QD=0.77;ReadPosRankSum=-3.739;SOR=1.056	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:549,55:604:99:0|1:100954883_C_T:473,0,22874:100954883	6	0	1	0
chr7	100958399	100958399	C	G	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.C6620G:p.T2207S	.	471	1039	12	0	0	12	0.00574163	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1033621635	0.0008	0.0011	0.0006	0.0009	0.0031	0.0007	0.0007	0.0023	0.0022	0	0.0008	0.0125	0	0.0002	0.0031	0.0003	0.0014	0.0026	0.0013	0.0019	0.0014	0.0013	0.0041	0.0012	0.0011	0.0025	0.0021	0.0003	0	0.0017	0.0173	0	0.0003	0.0138	0.0010	0.0030	0.0041	.	.	.	0.668	0.06345	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00571	.	.	.	.	.	.	.	0.0059574544	0.00134	T	.	.	.	.	.	.	.	.	.	0.0036340658265913333	0.00340	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.206579	0.02455	T	.	.	.	.	.	.	.	.	-0.5	0.00727	T	.	.	0.106	0.19839	B	.;.	.;.	-0.558620	0.01688	0.122	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.012000	0.03759	-5.979000	0.01534	-0.685000	0.04181	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	.	.	.	.	.	.	.	.	0.07143	1896.44	528	chr7	100958399	.	C	G	1896.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.733;DP=3356;ExcessHet=0;FS=2.557;MLEAC=1;MLEAF=0.071;MQ=59.21;MQRankSum=1.7;QD=5.25;ReadPosRankSum=-0.5;SOR=0.845	GT:AD:DP:GQ:PL	0/1:264,97:361:99:1907,0,7091	6	0	1	0
chr7	100994812	100994812	G	C	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.G4249C:p.G1417R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.022754825579	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.023	0.58613	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.345	0.11182	N	2.33	0.16492	T	-1.17	0.29933	N	0.207	0.22998	-0.9467	0.41532	T	0.017	0.06807	T	6	0.100924104	0.18408	T	0.022755	0.45677	T	0.076	0.22200	0.199	0.11247	0.0986583533028	0.09354	0.0027907139050238746	0.00259	.	.	0.469609737396	0.34625	T	0.00426	0.03670	T	-0.284666	0.10179	T	-0.646679	0.09189	T	0.0488286454799449	0.05294	T	0.422958	0.11265	T	0.15627994	0.35275	0.21471757	0.46033	0.15627994	0.35275	0.21471757	0.46032	-7.014	0.54136	T	.	.	0.421	0.66480	A	.;.	.;.	0.854730	0.12271	8.812	0.4520076118291424	0.03530	0.00546	0.02508	N	AEFI	0.045468	0.07440	N	-1.04713244815538	0.07643	0.3557838	-1.22074395432343	0.05577	0.2661314	1.21955206414086E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	0.722	-0.44	0.11649	-0.097000	0.11010	-3.198000	0.02978	0.234000	0.18175	0.000000	0.06391	0.000000	0.08366	0.027000	0.12703	.	.	.	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	267.63	16	chr7	100994812	.	G	C	267.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-4.528;DP=168;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=28.72;MQRankSum=4.49;QD=7.65;ReadPosRankSum=-2.19;SOR=0.257	GT:AD:DP:GQ:PL	0/1:23,12:35:99:278,0,575	6	0	1	0
chr7	101002732	101002732	G	C	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.G12169C:p.G4057R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.0094422308888	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.37536	T	0.014	0.62352	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.69	0.16971	N	2.33	0.16492	T	-1.93	0.44852	N	0.092	0.07125	-0.9652	0.38171	T	0.015	0.05946	T	7	0.09890652	0.17914	T	0.009442	0.24739	T	0.016	0.02506	0.213	0.13210	0.0884992946249	0.08302	0.01880736341619484	0.01834	.	.	0.419170439243	0.27723	T	0.008047	0.07409	T	-0.319257	0.06958	T	-0.696367	0.06026	T	0.0525292761264563	0.05939	T	0.393961	0.09832	T	0.057783995	0.11543	0.079520285	0.17908	0.057783995	0.11543	0.079520285	0.17908	-6.896	0.53269	T	.	.	0.418	0.64435	A	.;.	.;.	1.432341	0.18510	13.77	0.23240322131869337	0.00973	0.00430	0.02113	N	AEFI	0.046688	0.07780	N	-1.10210750853119	0.06606	0.3045596	-1.29077993230898	0.04554	0.2150833	3.27774908045193E-5	0.03775	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	0.9	-1.8	0.07480	0.245000	0.17917	-3.543000	0.02708	0.424000	0.20830	0.001000	0.13787	0.000000	0.08366	0.004000	0.06068	0.212:0.0:0.3048:0.4832	2.388	0.04104	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	1885.45	52	chr7	101002732	.	G	C	1885.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-5.606;DP=1022;ExcessHet=0;FS=20.302;MLEAC=1;MLEAF=0.071;MQ=40.85;MQRankSum=1.69;QD=3.58;ReadPosRankSum=2.75;SOR=0.88	GT:AD:DP:GQ:PL	0/1:406,120:526:99:1896,0,10668	6	0	1	0
chr7	101037120	101037120	G	C	exonic	MUC17	.	nonsynonymous SNV	MUC17:NM_001040105:exon3:c.G5704C:p.A1902P	.	0	224	1	0	1	2	0.00222717	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.000372868786388	.	.	.	.	.	.	.	.	.	.	.	.	.	rs534983270	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0017	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.146	0.25055	T	.	.	.	0.002	0.09854	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0.55	0.14455	N	4.15	0.02815	T	-0.53	0.16393	N	0.092	0.07125	-0.9358	0.43272	T	0.004	0.01400	T	9	0.04352027	0.03210	T	3.73E-4	0.00054	T	0.028	0.06331	.	.	0.0297737177859	0.01360	0.0035618229797968184	0.00333	.	.	0.377167761326	0.21854	T	0.018594	0.14961	T	-0.390221	0.02681	T	-0.798302	0.01945	T	0.0415485472037037	0.03973	T	0.30237	0.05722	T	0.051522315	0.09473	0.055376988	0.09701	0.051522315	0.09472	0.055376988	0.09700	-1.929	0.02924	T	.	.	0.107	0.19998	B	.	.	-0.528057	0.01779	0.136	0.28701115715954134	0.01487	0.01144	0.04144	N	AEFBCI	0.102213	0.20510	N	-1.91682976361911	0.00317	0.01361774	-2.01030059452484	0.00291	0.01286151	0.049397000236357	0.14803	0.487112	0.14033	0	0.59043	0.45803	0	0.59043	0.30614	0	0.564101	0.26826	0	.	.	1.19	-2.38	0.06243	-1.245000	0.03010	-12.170000	0.00545	-0.485000	0.05058	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3493:0.1789:0.2944:0.1774	0.582	0.00667	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	59.44	454	chr7	101037120	.	G	C	59.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.428;DP=3415;ExcessHet=0;FS=3.955;MLEAC=1;MLEAF=0.071;MQ=58.83;MQRankSum=-28.37;QD=0.07;ReadPosRankSum=-5.026;SOR=1.016	GT:AD:DP:GQ:PL	0/1:838,62:900:70:70,0,35001	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|1:121,30:151:99:0|1:102934282_G_C:252,0,4165:102934282	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|1:121,30:151:99:0|1:102934282_G_C:252,0,4165:102934282	3	0	4	0
chr7	103557156	103557156	G	A	exonic	RELN	.	nonsynonymous SNV	RELN:NM_005045:exon38:c.C5618T:p.T1873I,RELN:NM_173054:exon38:c.C5618T:p.T1873I	Lissencephaly 2 (Norman-Roberts type), Autosomal recessive	5	1441	66	10	0	86	0.0289757	.	.	.	177377	Norman-Roberts_syndrome|Familial_temporal_lobe_epilepsy_7|RELN-related_disorder|not_provided|not_specified	MONDO:MONDO:0009760,MedGen:C0796089,OMIM:257320,Orphanet:89844|MONDO:MONDO:0014639,MedGen:C4225327,OMIM:616436,Orphanet:101046|.|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.064	.	0.0023	0.00259585	0.0044	0.0006	0.0013	0	0.0011	0.0038	0.0033	0.0149	0.0039974	618	154602	rs41275239	0.0036	0.0036	0.0031	0.0041	0.0156	0.0035	0.0035	0.0149	0.0146	0.0005	0.0010	0.0089	2.522e-05	0.0008	0.0125	0.0029	0.0039	0.0156	0.0027	0.0027	0.0025	0.0029	0.0193	0.0025	0.0024	0.0161	0.0150	0.0006	0.0154	0.0009	0.0081	0	0.0004	0.0102	0.0033	0.0033	0.0193	0.409	0.10659	T	0.092	0.39954	T	0.001	0.12996	B	0.002	0.12992	B	0.000047	0.53742	D	0.167803	0.995457	0.42699	D	0.665	0.16292	N	1.88	0.23884	T	-1.15	0.29525	N	0.297	0.36884	-1.1066	0.03378	T	0.063	0.26029	T	10	0.006139159	0.00138	T	.	.	.	0.064	0.18567	.	.	0.151262610727	0.14761	0.36964579770135547	0.36878	0.185958582119	0.20903	0.539009332657	0.44306	T	0.057476	0.30576	T	-0.537201	0.00348	T	-0.532104	0.19077	T	0.015456933726748	0.00347	T	0.867413	0.56831	D	0.14101699	0.32510	0.17155404	0.39346	0.157696	0.35519	0.17927895	0.40651	-3.941	0.22918	T	0.10417546178359656	0.08118	0.088	0.11606	B	.;.;.	.;.;.	3.200901	0.43526	21.8	0.99059792804306646	0.51459	0.94579	0.61626	D	AEFBI	0.811231	0.73427	D	0.110212383688809	0.46938	2.926677	0.307183394079608	0.55960	3.758986	0.834191241572407	0.24747	0.536767	0.22168	0	0.573888	0.26702	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.77	5.77	0.91077	6.195000	0.72012	11.931000	0.99922	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.07:0.0:0.93:0.0	14.526	0.67476	901	0.24189	.;.;.	.	.	.	.	.	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	0.007560	0.000000	0.004076	0.005848	0.000000	0.000000	0.012195	0.026515	0.07143	868.83	34	chr7	103557156	.	G	A	868.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.662;DP=219;ExcessHet=0;FS=11.034;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.51;ReadPosRankSum=1.42;SOR=0.109	GT:AD:DP:GQ:PL	0/1:24,32:56:99:879,0,660	6	0	1	0
chr7	105975029	105975029	T	A	exonic	CDHR3	.	nonsynonymous SNV	CDHR3:NM_152750:exon2:c.T232A:p.S78T	.	434	1086	2	0	0	2	0.000919963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.00468014231532	8.3e-05	0.000199681	0.0001	0	0	0	0	0.0002	0	0.0001	0.0001164	18	154602	rs370097298	6.774e-05	6.772e-05	4.493e-05	9.078e-05	0.0007	5.671e-05	5.261e-05	0.0002	0.0001	0	6.708e-05	0	0	0	0.0007	6.116e-05	0.0001	0.0002	4.596e-05	4.593e-05	2.57e-05	6.712e-05	0.0001	2.108e-05	1.526e-05	4.766e-05	3.339e-05	0	0	0	0	0	0	0	0.0001	0	0	0.262	0.16466	T	0.413	0.14412	T	0.002	0.09854	B	0.004	0.10090	B	0.213060	0.16318	N	0.576440	1	0.81001	D	2.625	0.76847	M	2.64	0.12780	T	-1.18	0.30140	N	0.195	0.21449	-1.0420	0.16711	T	0.026	0.11220	T	10	0.10707313	0.19872	T	0.00468	0.11628	T	0.056	0.15993	.	.	0.0611884634855	0.05136	0.4326430336068601	0.43181	0.0332647967301	0.03475	0.354618132114	0.18600	T	8.99E-4	0.00456	T	-0.488813	0.00660	T	-0.660488	0.08233	T	0.0672638341784477	0.08261	T	0.414759	0.10842	T	0.099753074	0.23545	0.06325873	0.12503	0.099753074	0.23545	0.06325873	0.12503	-3.947	0.23008	T	.	.	0.081	0.08224	B	.	.	0.649064	0.10174	6.917	0.61059455812475905	0.06615	0.32298	0.24551	N	AEFBI	0.108438	0.21572	N	-1.03210011031136	0.07943	0.3707557	-1.00436166380734	0.09689	0.4834978	0.10552742435689	0.16505	0.549168	0.22868	0	0.563428	0.19063	0	0.491513	0.07944	0	0.616125	0.45549	0	.	.	5.46	0.16	0.14261	0.790000	0.26562	2.390000	0.32535	-0.697000	0.04075	0.809000	0.29839	1.000000	0.68203	0.044000	0.14658	0.2431:0.0685:0.1267:0.5618	2.89	0.05325	922	0.19044	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	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003817	0.07143	1169.53	33	chr7	105975029	.	T	A	1169.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.53;DP=264;ExcessHet=0;FS=6.483;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.06;ReadPosRankSum=-1.07;SOR=1.314	GT:AD:DP:GQ:PL	0/1:46,51:97:99:1180,0,1112	6	0	1	0
chr7	108103155	108103155	C	G	exonic	LAMB4	.	nonsynonymous SNV	LAMB4:NM_001318046:exon10:c.G1069C:p.G357R,LAMB4:NM_001318047:exon10:c.G1069C:p.G357R,LAMB4:NM_001318048:exon10:c.G1069C:p.G357R,LAMB4:NM_007356:exon10:c.G1069C:p.G357R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.647	0.076013556721	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.013415	0.28850	N	0.241831	1	0.81001	D	3.87	0.95912	H	-0.52	0.70717	T	-7.51	0.95074	D	0.897	0.97095	0.418	0.89375	D	0.611	0.86241	D	10	0.98636055	0.98941	D	0.076014	0.72428	D	0.647	0.86636	0.945	0.99302	0.270001397563	0.26616	0.8722860492838332	0.87194	0.426884383221	0.43051	0.606771588326	0.53860	T	0.332738	0.70267	T	0.348598	0.86408	D	0.262961	0.86229	D	0.998145937919617	0.93349	D	0.89941	0.78341	D	0.5412172	0.69464	0.5835631	0.75855	0.5412172	0.69465	0.5835631	0.75856	-12.661	0.87919	D	.	.	0.476	0.63471	A	.;.;.	.;.;.	3.647193	0.51748	23.1	0.99913637605536076	0.98238	0.93612	0.58695	D	AEFDBHCI	0.536587	0.55474	D	0.465797739649015	0.65106	4.780791	0.261361375336425	0.53298	3.499417	0.999999998299804	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.3	3.41	0.38145	3.914000	0.56114	0.426000	0.18273	0.599000	0.40250	0.982000	0.35529	0.001000	0.17328	0.767000	0.36405	0.1528:0.8472:0.0:0.0	13.962	0.63694	692	0.58729	Laminin EGF domain|Laminin EGF domain|Laminin EGF domain;Laminin EGF domain|Laminin EGF domain|Laminin EGF domain;Laminin EGF domain|Laminin EGF domain|Laminin EGF 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	610.27	34	chr7	108103155	.	C	G	610.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.61;DP=259;ExcessHet=0;FS=0.877;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.63;ReadPosRankSum=-0.257;SOR=0.534	GT:AD:DP:GQ:PL	0/1:49,31:80:99:620,0,1283	5	0	1	1
chr7	123119167	123119167	T	C	exonic	SLC13A1	.	nonsynonymous SNV	SLC13A1:NM_022444:exon13:c.A1426G:p.I476V,SLC13A1:NM_001324400:exon16:c.A1054G:p.I352V	.	436	1085	1	0	0	1	0.000460617	.	.	.	3328712	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.071	0.0114801588019	.	.	1.66e-05	0	8.834e-05	0	0	1.507e-05	0	0	1.29e-05	2	154602	rs758207818	1.027e-05	1.026e-05	6.813e-06	1.376e-05	0.0002	6.17e-06	4.89e-06	7.43e-06	2.78e-06	2.991e-05	4.481e-05	0	0	0	0.0002	8.1e-06	1.657e-05	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.27426	T	0.112	0.37037	T	0.068	0.23728	B	0.165	0.35019	B	0.000128	0.49741	N	0.204733	0.999278	0.81001	D	1.57	0.39626	L	3.74	0.03951	T	-0.79	0.21860	N	0.217	0.24260	-0.9260	0.44716	T	0.013	0.05081	T	10	0.101495326	0.18548	T	0.01148	0.29147	T	0.071	0.20720	0.483	0.56462	0.234412748748	0.23057	0.4324186070582115	0.43158	0.0929261521054	0.10492	0.426885008812	0.28783	T	0.066423	0.32942	T	-0.318415	0.07028	T	-0.513629	0.20942	T	0.0515987500548363	0.05779	T	0.682432	0.29103	T	0.09047606	0.21172	0.12016766	0.29003	0.09047606	0.21172	0.12016766	0.29002	-4.939	0.36171	T	.	.	0.098	0.16187	B	.	.	1.050343	0.14316	10.89	0.98793714914212727	0.46333	0.54257	0.29571	D	AEFI	0.455285	0.50763	N	-0.53409238560534	0.20985	1.110359	-0.433830019905735	0.24010	1.312507	0.0785329138421307	0.15791	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.633917	0.49826	0	.	.	5.53	3.11	0.34883	0.164000	0.16359	0.479000	0.18787	0.609000	0.47794	0.112000	0.23030	0.998000	0.33993	0.976000	0.56436	0.0:0.0735:0.1415:0.7851	7.649	0.27505	564	0.70960	.	.	.	.	.	.	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	654.27	33	chr7	123119167	.	T	C	654.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.111;DP=220;ExcessHet=0;FS=1.19;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.22;ReadPosRankSum=-0.45;SOR=0.976	GT:AD:DP:GQ:PL	0/1:16,30:46:99:664,0,355	5	0	1	1
chr7	128479325	128479325	T	C	exonic	METTL2B	.	nonsynonymous SNV	METTL2B:NM_018396:exon3:c.T370C:p.C124R	.	438	1023	61	0	0	61	0.0289511	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.150	0.0174515873499	.	.	0.0004	0.0004	0.0003	0.0003	0.0002	0.0005	0	0.0002	3.84e-05	1	26028	rs2896399	6.91e-07	0.0003	0	1.392e-06	1.171e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.171e-05	7.762e-05	0.0047	6.85e-05	8.73e-05	0.0002	4.257e-05	3.336e-05	3.499e-05	2.115e-05	0.0001	0	0	0.0003	0	0.0001	0	6.298e-05	0	0.0002	0.543	0.07211	T	0.446	0.14075	T	0.0	0.02946	B	0.0	0.01387	B	0.069710	0.02236	N	1.659300	0.999999	0.08975	N	0	0.06538	N	-1.5	0.81318	D	-0.09	0.08340	N	0.091	0.06990	-0.9107	0.46768	T	0.159	0.49245	T	10	0.040916353	0.02701	T	0.017452	0.39153	T	0.150	0.39571	.	.	0.281780670237	0.27795	0.3364087587855413	0.33553	1.77259410334	0.91302	0.311764478683	0.12173	T	0.009243	0.08422	T	-0.023595	0.48339	T	-0.271669	0.47650	T	0.0109154101652592	0.00156	T	0.0324967	0.00210	T	0.16811484	0.37249	0.10462155	0.25132	0.16811484	0.37249	0.10462155	0.25131	-3.247	0.14219	T	.	.	0.058	0.01645	B	.;.	.;.	-0.248706	0.02851	0.401	0.19786044545260884	0.00683	0.00784	0.03216	N	AEFDGBI	0.026016	0.01879	N	-1.68615344627752	0.00892	0.03860894	-1.71130139537614	0.01088	0.04887346	0.983306935734051	0.30538	0.722319	0.85440	0	0.581341	0.33841	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	2.65	-3.33	0.04649	-0.038000	0.12096	-0.198000	0.10972	-1.804000	0.00620	0.000000	0.06391	0.000000	0.08366	0.326000	0.25110	0.1971:0.2519:0.0:0.5509	3.406	0.06915	340	0.86005	.;.	.	.	.	.	.	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	0.018630	0.060606	0.006793	0.008772	0.000000	0.017241	0.033537	0.007576	0.2	748.55	155	chr7	128479325	.	T	C	748.55	.	AC=2;AF=0.2;AN=10;BaseQRankSum=2.83;DP=1025;ExcessHet=0.3476;FS=35.645;MLEAC=2;MLEAF=0.2;MQ=57.57;MQRankSum=-12.81;QD=1.79;ReadPosRankSum=-2.486;SOR=4.251	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:207,23:230:99:0|1:128479325_T_C:343,0,8573:128479325	3	0	2	2
chr7	128479326	128479326	G	C	exonic	METTL2B	.	nonsynonymous SNV	METTL2B:NM_018396:exon3:c.G371C:p.C124S	.	439	1022	61	0	0	61	0.0289786	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.0178834836329	.	.	0.0004	0.0004	0.0003	0.0003	0.0002	0.0005	0	0.0002	3.84e-05	1	26028	rs1053120	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0001	0.0047	0.0001	0.0001	0.0002	8.172e-05	6.772e-05	5.008e-05	3.232e-05	0.0001	0	7.124e-05	0.0003	0	0.0004	0	9.519e-05	0	0.0002	0.758	0.03719	T	0.539	0.11004	T	0.0	0.02946	B	0.0	0.01387	B	0.069710	0.02236	N	1.659300	1	0.08975	N	-1.245	0.00777	N	-1.44	0.80815	T	0.31	0.04022	N	0.028	0.00618	-0.8819	0.49609	T	0.184	0.53346	T	10	0.027546227	0.00899	T	0.017883	0.39748	T	0.035	0.08770	0.413	0.45052	0.143124449307	0.13826	0.18685623340228857	0.18603	1.30509170409	0.83107	0.288228809834	0.08665	T	0.005735	0.05178	T	-0.0687896	0.41519	T	-0.336588	0.40731	T	0.0201303625068684	0.00714	T	0.0364963	0.00253	T	0.06934343	0.15184	0.05611007	0.09968	0.06934343	0.15184	0.05611007	0.09967	-1.643	0.02320	T	.	.	0.063	0.01622	B	.;.	.;.	-0.660452	0.01415	0.083	0.18282609098011249	0.00568	0.00146	0.00887	N	AEFDGBI	0.017860	0.00498	N	-1.54153135271646	0.01584	0.06923818	-1.55325254833429	0.01954	0.08918713	0.918060544389619	0.26560	0.722319	0.85440	0	0.581341	0.33841	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	2.57	-0.54	0.11268	-0.000000	0.12910	-3.007000	0.03146	-0.712000	0.03928	0.000000	0.06391	0.000000	0.08366	0.356000	0.25796	0.2318:0.3902:0.2301:0.1479	1.070	0.01518	340	0.86005	.;.	.	.	.	.	.	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	0.075758	0.008152	0.014620	0.000000	0.017241	0.033537	0.011364	0.2	749.09	155	chr7	128479326	.	G	C	749.09	.	AC=2;AF=0.2;AN=10;BaseQRankSum=3.05;DP=1032;ExcessHet=0.3476;FS=35.645;MLEAC=2;MLEAF=0.2;MQ=57.48;MQRankSum=-12.81;QD=1.79;ReadPosRankSum=-2.527;SOR=4.251	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:207,23:230:99:0|1:128479325_T_C:343,0,8573:128479325	3	0	2	2
chr7	128677613	128677613	C	T	exonic	FAM71F2	.	nonsynonymous SNV	FAM71F2:NM_001012454:exon3:c.C415T:p.R139C,FAM71F2:NM_001128926:exon3:c.C388T:p.R130C,FAM71F2:NM_001290254:exon4:c.C130T:p.R44C,FAM71F2:NM_001290255:exon4:c.C130T:p.R44C	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.174	0.0131750253338	.	.	8.492e-06	0	0	0	0	1.528e-05	0	0	6.5e-06	1	154602	rs776255301	2.121e-05	2.121e-05	1.77e-05	2.476e-05	2.789e-05	1.52e-05	1.325e-05	1.998e-05	1.741e-05	0	0	0	0	0	0	2.789e-05	0	0	3.948e-05	3.941e-05	2.572e-05	5.39e-05	0.0002	1.717e-05	1.131e-05	5.3e-05	2.839e-05	2.417e-05	0	0.0002	0	0	0	0	2.941e-05	0	0	0.027	0.46513	D	0.057	0.46406	T	1.0	0.90584	D	0.997	0.86255	D	0.000131	0.49741	D	0.000000	0.999563	0.81001	D	1.765	0.45800	L	2.26	0.17596	T	-4.89	0.81431	D	.	.	-1.1211	0.02263	T	0.101	0.37341	T	10	0.7691324	0.76940	D	0.013175	0.32362	T	0.174	0.44019	0.663	0.80098	.	.	0.4271844571952595	0.42635	.	.	0.541887521744	0.44712	T	0.030255	0.21488	T	-0.092905	0.37595	T	-0.240777	0.50722	T	0.931129097938538	0.59628	D	0.808019	0.45805	T	0.32494798	0.55054	0.27413633	0.53339	0.32494798	0.55054	0.27413633	0.53338	-5.375	0.43889	T	.	.	0.222	0.52252	B	.;.	.;.	3.919253	0.57202	23.8	0.99930501643453118	0.99334	0.68986	0.34011	D	AEFBI	0.292778	0.40357	N	0.533433305099913	0.69081	5.306454	0.502971520335974	0.68190	5.185974	0.999851377301651	0.44174	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	5.6	5.6	0.84997	1.710000	0.37539	3.268000	0.37139	-0.173000	0.11020	0.927000	0.32177	0.998000	0.33993	0.161000	0.20682	0.0:1.0:0.0:0.0	15.110	0.72017	428	0.80967	Domain of unknown function DUF3699;.	.	.	.	.	.	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	1272.83	40	chr7	128677613	.	C	T	1272.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.521;DP=241;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=19;ReadPosRankSum=0.427;SOR=0.77	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:34,33:67:99:0|1:128677604_C_T:1283,0,1324:128677604	6	0	1	0
chr7	143478290	143478290	A	G	exonic	TAS2R41	.	nonsynonymous SNV	TAS2R41:NM_176883:exon1:c.A418G:p.I140V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.00241750934598	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs373019967	6.544e-06	0.0009	4.362e-06	8.725e-06	7.733e-06	3.08e-06	2.23e-06	3.33e-06	2.4e-06	0	0	0	0	1.901e-05	0	7.733e-06	0	0	0	1.985e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.149	0.24758	T	0.412	0.14456	T	0.08	0.24543	B	0.074	0.28220	B	0.947612	0.07634	N	1.033800	1	0.08975	N	1.015	0.25427	L	5.65	0.00784	T	-0.47	0.15178	N	0.052	0.02366	-0.9758	0.35948	T	0.003	0.01092	T	10	0.07525703	0.11609	T	0.002418	0.04757	T	0.028	0.06331	0.652	0.78963	0.101711395817	0.09552	0.04758141662796776	0.04701	0.0497017490909	0.05451	0.254782557487	0.04288	T	0.002724	0.02115	T	-0.393424	0.02556	T	-0.802903	0.01831	T	0.103939465538467	0.12785	T	.	.	.	0.047795918	0.08228	0.037618708	0.03453	0.047795918	0.08227	0.037618708	0.03453	-3.217	0.12689	T	.	.	0.092	0.13503	B	.	.	-1.055815	0.00695	0.020	0.53951675314367431	0.05040	0.01208	0.04299	N	AEFBI	0.032596	0.03711	N	-1.54910637092624	0.01540	0.06726581	-1.68964110834314	0.01184	0.05327442	0.999999965671774	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.7	-8.61	0.00769	-1.143000	0.03311	-0.836000	0.07236	-0.773000	0.03420	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.279:0.1065:0.5102:0.1042	6.528	0.21510	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	.	.	.	.	.	.	.	.	0.1667	305.24	55	chr7	143478290	.	A	G	305.24	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-2.763;DP=337;ExcessHet=0.4139;FS=159.303;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=2.3;ReadPosRankSum=1.22;SOR=7.327	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:61,17:78:99:0|1:143478290_A_G:208,0,2252:143478290	4	0	2	1
chr7	151196492	151196492	G	A	exonic	IQCA1L	.	nonsynonymous SNV	IQCA1L:NM_001304419:exon10:c.C1270T:p.R424W	.	1044	473	4	1	0	6	0.00630252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs752523494	0.0001	7.475e-05	0.0001	0.0002	0.0023	0.0001	8.815e-05	0.0006	0.0003	0	0.0008	0	8.732e-05	0	0.0023	0.0001	0.0002	0.0013	5.913e-05	5.906e-05	5.142e-05	6.719e-05	0.0002	3.077e-05	2.21e-05	2.847e-05	1.859e-05	4.817e-05	0	6.538e-05	0	0	0	0	7.353e-05	0	0.0002	.	.	.	0.058	0.46182	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	0.14338	.	.	.	.	.	.	.	0.12749612	0.24246	T	.	.	.	.	.	.	.	0.463328977263	0.45958	0.260867184624651	0.25999	.	.	.	.	.	0.125508	0.45127	T	-0.188781	0.22438	T	-0.508948	0.21424	T	.	.	.	0.768023	0.39669	T	0.20056756	0.42036	0.13986216	0.33357	0.20056756	0.42036	0.13986216	0.33356	-7.869	0.60174	D	.	.	0.09	0.12607	B	.	.	3.006553	0.40193	21.1	0.70118142836551822	0.09191	0.20020	0.20884	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.325613444905116	0.19430	0.095506	0.02484	0	0.166317	0.03975	0	0.048193	0.00230	0	0.075334	0.01956	0	0.271709	0.33732	4.0	0.99	0.18926	0.056000	0.14136	0.494000	0.18929	0.676000	0.76740	0.000000	0.06391	0.014000	0.20376	0.292000	0.24309	0.1031:0.0:0.3646:0.5323	5.228	0.14724	906	0.23090	.	.	.	.	.	.	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	2540.44	33	chr7	151196492	.	G	A	2540.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.4;DP=344;ExcessHet=0;FS=2.799;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.49;ReadPosRankSum=-1.156;SOR=0.497	GT:AD:DP:GQ:PL	0/1:67,97:164:99:2551,0,1382	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	0/1:295,56:351:99:.:.:552,0,10000:.	1	0	6	0
chr8	6499914	6499914	C	G	exonic	MCPH1	.	nonsynonymous SNV	MCPH1:NM_001322042:exon12:c.C2199G:p.H733Q,MCPH1:NM_001363979:exon12:c.C2199G:p.H733Q,MCPH1:NM_024596:exon12:c.C2199G:p.H733Q	Microcephaly 1, primary, autosomal recessive, Autosomal recessive	2	1513	7	0	0	7	0.00230795	.	.	.	899952	Microcephaly_1,_primary,_autosomal_recessive|not_provided|Inborn_genetic_diseases	MONDO:MONDO:0009617,MedGen:C1855081,OMIM:251200,Orphanet:2512,Orphanet:52183|MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.129	0.0038715443011	0.0002	.	0.0001	0	0	0	0	8.99e-05	0.0033	0.0005	0.0001488	23	154602	rs202015253	9.922e-05	9.987e-05	6.536e-05	0.0001	0.0009	8.581e-05	8.05e-05	0.0007	0.0007	5.975e-05	0.0001	0	0	0	0.0007	4.227e-05	0.0002	0.0009	0.0002	0.0002	0.0001	0.0002	0.0015	0.0001	9.233e-05	0.0007	0.0005	0	0	0.0005	0	0.0004	0	0	0.0001	0	0.0015	0.233	0.18122	T	0.352	0.17372	T	0.013	0.16609	B	0.004	0.10090	B	0.585008	0.05558	N	1.179420	0.538707	0.81001	D	0.345	0.11182	N	2.18	0.18875	T	-1.28	0.32185	N	0.114	0.10198	-1.0788	0.07582	T	0.057	0.23828	T	10	0.053441435	0.05537	T	0.003872	0.09086	T	0.129	0.35316	0.382	0.39970	0.526641945673	0.52312	0.20019492623862123	0.19936	.	.	0.297507345676	0.10030	T	0.162888	0.50773	T	-0.583419	0.00184	T	-0.711654	0.05211	T	0.0596184246242046	0.07109	T	.	.	.	0.23075016	0.45835	0.17753324	0.40361	0.30129564	0.53021	0.1584517	0.37002	-6.247	0.48301	T	.	.	0.163	0.35992	B	.	.	2.460628	0.31700	18.82	0.96448635557451656	0.29855	0.74114	0.36252	D	AEFBI	0.096790	0.19534	N	-0.102328461778403	0.37290	2.167473	0.0639460405314104	0.42750	2.591341	0.173903314657196	0.17775	0.732398	0.92422	0	0.743671	0.97443	0	0.659464	0.59346	0	0.645665	0.59343	0	.	.	5.78	5.78	0.91418	0.540000	0.22900	2.167000	0.31025	0.549000	0.26987	0.725000	0.28872	0.987000	0.30940	0.736000	0.35301	0.0:0.9166:0.0:0.0834	11.187	0.47891	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	1575.44	36	chr8	6499914	.	C	G	1575.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.24;DP=405;ExcessHet=0;FS=0.547;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.61;ReadPosRankSum=0.397;SOR=0.747	GT:AD:DP:GQ:PL	0/1:106,77:183:99:1586,0,2514	6	0	1	0
chr8	7332657	7332657	G	T	exonic	USP17L1;USP17L3	.	stopgain	USP17L3:NM_001256871:exon1:c.G271T:p.E91X,USP17L1:NM_001256873:exon1:c.G271T:p.E91X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1336787634	1.267e-05	8.047e-06	8.974e-06	1.595e-05	1.07e-05	4.55e-06	2.99e-06	2.85e-06	7.9e-07	0	0	0	0	0	0	1.07e-05	0.0001	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.01004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.239933	0.15358	T	-0.582423	0.14328	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.234956	0.64158	24.7	0.74226995549645469	0.10617	0.19635	0.20737	N	AEFI	.	.	.	.	.	.	.	.	.	1.13047293163131E-5	0.02871	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0823262	0.18828	0.781	0.781	0.17707	0.892000	0.27957	-7.255000	0.01196	0.308000	0.19071	0.898000	0.31380	0.000000	0.08366	0.025000	0.12405	0.0:0.4034:0.5965:0.0	4.772	0.12531	994	0.00715	Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease 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	.	.	.	.	.	.	.	.	0.08333	175.4	10	chr8	7332657	.	G	T	175.4	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.97;DP=70;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=35.98;MQRankSum=-1.915;QD=14.62;ReadPosRankSum=0.542;SOR=0.446	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:7,5:12:99:0|1:7332657_G_T:185,0,279:7332657	5	0	1	1
chr8	7332658	7332658	A	T	exonic	USP17L1;USP17L3	.	nonsynonymous SNV	USP17L3:NM_001256871:exon1:c.A272T:p.E91V,USP17L1:NM_001256873:exon1:c.A272T:p.E91V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1218746351	1.477e-05	1.34e-05	1.346e-05	1.594e-05	3.229e-05	6.14e-06	3.95e-06	2.85e-06	7.9e-07	0	0	0	3.229e-05	0	0	1.07e-05	0.0001	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	.	.	.	-2.42	0.00071	N	.	.	.	.	.	.	0.191	0.20925	.	.	.	.	.	.	.	0.09865025	0.17850	T	.	.	.	.	.	.	.	0.326074293725	0.32213	0.1552805320841279	0.15449	.	.	0.586859107018	0.51051	T	0.001739	0.01167	T	-0.0586673	0.43115	T	-0.322048	0.42350	T	.	.	.	0.577942	0.20808	T	0.0733486	0.16383	0.08242447	0.18810	0.0733486	0.16383	0.08242447	0.18810	7.244	0.00000	T	.	.	0.050	0.00136	B	.	.	0.044396	0.04597	1.270	0.45248639150077274	0.03538	0.01346	0.04623	N	AEFI	.	.	.	.	.	.	.	.	.	1.47773758972093E-6	0.01202	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0823262	0.18828	0.781	-1.56	0.08080	2.557000	0.45533	-0.115000	0.11785	-0.684000	0.04190	0.905000	0.31549	0.000000	0.08366	0.025000	0.12405	0.3506:0.172:0.0:0.4774	2.521	0.04396	994	0.00715	Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease 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	175.4	10	chr8	7332658	.	A	T	175.4	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2;DP=73;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=35.98;MQRankSum=-1.915;QD=14.62;ReadPosRankSum=0.542;SOR=0.446	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:7,5:12:99:0|1:7332657_G_T:185,0,279:7332657	5	0	1	1
chr8	7972772	7972772	G	A	exonic	USP17L8	.	nonsynonymous SNV	USP17L8:NM_001256872:exon1:c.C482T:p.A161V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0795	0.0625	.	.	.	0.5	.	0	0.0001153	3	26028	rs749180205	0.0035	0.0008	0.0043	0.0028	0.0082	0.0032	0.0031	0.0071	0.0067	0.0082	0.0066	0	0.0004	0	0.0042	0.0026	0.0049	0.0003	0.0138	0.0079	0.0129	0.0147	0.0141	0.0125	0.0119	0.0127	0.0121	0.0141	.	0.0103	0	0	0	0	0.0102	0.0340	0	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	3.605	0.93784	H	.	.	.	.	.	.	0.331	0.37197	.	.	.	.	.	.	.	0.002868116	0.00046	T	.	.	.	.	.	.	.	0.0666544352282	0.05500	0.02632342877385491	0.02582	.	.	0.578756928444	0.49911	T	0.090012	0.38494	T	0.0873975	0.62896	D	-0.112236	0.62432	T	.	.	.	0.816718	0.47282	T	0.044865575	0.07246	0.21212623	0.45670	0.044865575	0.07245	0.21212623	0.45669	-9.471	0.70678	D	.	.	0.242	0.47611	B	.	.	3.388180	0.46898	22.4	0.72194664984544976	0.09889	0.59780	0.31010	D	AEFI	.	.	.	.	.	.	.	.	.	3.63787906287147E-5	0.03775	0.074636	0.01641	0	0.084543	0.02171	0	0.063197	0.01477	0	0.057018	0.00518	0	0.568869	0.40319	0.45	0.45	0.15835	3.984000	0.56632	1.679000	0.28001	0.301000	0.18947	0.969000	0.34210	0.903000	0.28003	0.053000	0.15439	1.0E-4:0.0:0.9999:0.0	6.846	0.23171	988	0.01987	Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease 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	228.43	.	chr8	7972772	.	G	A	228.43	.	AC=2;AF=0.5;AN=4;DP=10;ExcessHet=0;FS=0;MLEAC=4;MLEAF=1;MQ=24.83;QD=28.55;SOR=4.407	GT:AD:DP:GQ:PL	1/1:0,8:8:24:236,24,0	1	1	0	5
chr8	7972949	7972949	G	A	exonic	USP17L8	.	nonsynonymous SNV	USP17L8:NM_001256872:exon1:c.C305T:p.P102L	.	185	39	0	2	0	4	0.0487805	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0003	0	.	0	0	0	0	3.84e-05	1	26028	rs765850356	0.0010	0.0033	0.0010	0.0011	0.0023	0.0008	0.0008	0.0018	0.0016	0.0023	0.0011	0	0	0	0	0.0002	0.0014	0.0013	0.0011	0.0028	0.0006	0.0016	0.0011	0.0007	0.0006	0.0007	0.0006	0.0011	.	0	0	0	0	0	0	0	0	.	.	.	0.002	0.79402	D	.	.	.	.	.	.	.	.	.	.	.	.	.	3.235	0.89610	M	.	.	.	.	.	.	0.226	0.25377	.	.	.	.	.	.	.	0.0066080987	0.00150	T	.	.	.	.	.	.	.	.	.	0.07696375020301947	0.07632	.	.	0.436816811562	0.30143	T	0.037622	0.24541	T	0.0484934	0.58149	T	-0.168119	0.57615	T	.	.	.	0.818018	0.47523	T	0.08351498	0.19289	0.15608095	0.36559	0.08351498	0.19289	0.15608095	0.36558	-8.314	0.63190	D	.	.	0.113	0.22245	B	.	.	2.149342	0.27375	17.44	0.81297466177872524	0.13616	0.37350	0.25742	N	AEFI	.	.	.	.	.	.	.	.	.	1.38290631700752E-5	0.02871	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0790037	0.18180	0.45	-0.9	0.10008	5.241000	0.65206	-0.213000	0.10835	-0.710000	0.03952	0.926000	0.32145	0.000000	0.08366	0.469000	0.28319	0.0:0.3147:0.6853:0.0	6.210	0.19836	988	0.01987	Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease 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	.	.	.	.	.	.	.	.	1.0	1132.93	.	chr8	7972949	.	G	A	1132.93	.	AC=2;AF=1;AN=2;DP=42;ExcessHet=0;FS=0;MLEAC=4;MLEAF=1;MQ=43.71;QD=26.97;SOR=1.127	GT:AD:DP:GQ:PL	1/1:0,42:42:99:1137,126,0	0	1	0	6
chr8	10607553	10607553	G	T	exonic	RP1L1	.	nonsynonymous SNV	RP1L1:NM_178857:exon4:c.C6545A:p.A2182D	Occult macular dystrophy, Autosomal dominant	40	1467	15	0	0	15	0.00508647	.	.	.	303800	not_provided|Occult_macular_dystrophy	MedGen:C3661900|Human_Phenotype_Ontology:HP:0030636,MONDO:MONDO:0013316,MedGen:C3150833,OMIM:613587,Orphanet:247834	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.010	.	0.0083	0.00379393	0.0073	0.0009	0.0062	0	0.0023	0.0111	0.0133	0.0021	0.0069857	1080	154602	rs183570817	0.0087	0.0085	0.0087	0.0087	0.0129	0.0086	0.0085	0.0105	0.0096	0.0013	0.0070	0.0222	5.092e-05	0.0022	0.0129	0.0097	0.0090	0.0022	0.0072	0.0072	0.0076	0.0068	0.0125	0.0069	0.0067	0.0111	0.0105	0.0016	0	0.0125	0.0174	0	0.0022	0.0073	0.0104	0.0111	0.0041	0.0	0.91255	D	0.31	0.19721	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.18	0.07478	T	-0.43	0.14390	N	0.114	0.10198	-0.9265	0.44645	T	0.010	0.03492	T	9	0.0047160983	0.00099	T	.	.	.	0.010	0.01040	.	.	0.0954503805726	0.09146	0.04161955021983666	0.04106	.	.	0.202856898308	0.00544	T	.	.	.	-0.714672	0.00030	T	-0.787029	0.02247	T	0.00840453529825069	0.00102	T	0.335166	0.07140	T	0.15993142	0.35899	0.14459392	0.34323	0.15993142	0.35899	0.14459392	0.34322	-9.946	0.73588	D	.	.	0.116	0.23465	B	.	.	0.319752	0.06943	3.489	0.25417604485007622	0.01171	0.00864	0.03432	N	AEFBI	0.028517	0.02526	N	-1.14680286162306	0.05832	0.2669221	-1.23324392418795	0.05384	0.2563897	1.22422377422354E-5	0.02871	0.580535	0.33130	0	0.573888	0.26702	0	0.578056	0.29568	0	0.604944	0.38103	0	.	.	1.67	0.708	0.17301	-0.520000	0.06338	-2.209000	0.04054	0.348000	0.19902	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.1575:0.231:0.6116:0.0	5.154	0.14355	796	0.45353	.	.	.	.	.	.	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	0.009073	0.015152	0.010870	0.008824	0.000000	0.025862	0.006098	0.000000	0.07143	3026.44	45	chr8	10607553	.	G	T	3026.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.431;DP=761;ExcessHet=0;FS=3.541;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.45;ReadPosRankSum=1.85;SOR=0.855	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:118,125:243:99:0|1:10607553_G_T:3037,0,4049:10607553	6	0	1	0
chr8	10609944	10609944	A	G	exonic	RP1L1	.	nonsynonymous SNV	RP1L1:NM_178857:exon4:c.T4154C:p.L1385P	Occult macular dystrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.00154599027019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.957e-07	6.841e-06	1.384e-06	0	9.147e-07	0	0	.	.	0	0	0	0	0	0	9.147e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.352	0.17372	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.31	0.06291	T	-0.84	0.22944	N	0.246	0.27792	-0.9521	0.40608	T	0.010	0.03627	T	9	0.09340763	0.16528	T	0.001546	0.02420	T	0.019	0.03383	0.19	0.10039	0.252681307341	0.24864	0.04820050725330025	0.04763	.	.	0.277951002121	0.07208	T	.	.	.	-0.338111	0.05520	T	-0.723449	0.04631	T	0.104427913888091	0.12837	T	0.312769	0.06128	T	0.18423171	0.39729	0.18186693	0.41077	0.18423171	0.39728	0.18186693	0.41076	-5.006	0.36905	T	.	.	0.116	0.23500	B	.	.	1.339715	0.17462	13.18	0.83328979539444226	0.14666	0.00623	0.02749	N	AEFDBI	0.039816	0.05836	N	-1.21499860110366	0.04781	0.2165456	-1.31279977474022	0.04264	0.2007433	1.76998291139271E-4	0.05786	0.580535	0.33130	0	0.573888	0.26702	0	0.578056	0.29568	0	0.604944	0.38103	0	.	.	1.72	-1.96	0.07113	-0.566000	0.06013	-0.531000	0.08635	0.410000	0.20643	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.4099:0.1824:0.4077:0.0	4.524	0.11378	794	0.45591	.	.	.	.	.	.	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	1787.59	130	chr8	10609944	.	A	G	1787.59	.	AC=2;AF=0.5;AN=4;BaseQRankSum=-3.617;DP=1121;ExcessHet=0.4139;FS=229.301;MLEAC=3;MLEAF=0.75;MQ=60;MQRankSum=0;QD=3.66;ReadPosRankSum=1.93;SOR=9.688	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:200,77:277:99:0|1:10609944_A_G:806,0,6122:10609944	0	0	2	5
chr8	10609948	10609948	C	T	exonic	RP1L1	.	nonsynonymous SNV	RP1L1:NM_178857:exon4:c.G4150A:p.G1384R	Occult macular dystrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	0.00160529655429	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.751e-06	2.736e-06	1.369e-06	4.147e-06	3.01e-05	6.4e-07	4.3e-07	7.2e-07	2e-07	3.01e-05	0	0	0	0	0	2.712e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.376	0.11334	T	0.121	0.35840	T	.	.	.	.	.	.	.	.	.	.	0.999998	0.08975	N	.	.	.	3.32	0.06214	T	-0.05	0.07736	N	0.117	0.10626	-0.9469	0.41498	T	0.014	0.05465	T	9	0.104384124	0.19241	T	0.001605	0.02574	T	0.050	0.13987	0.278	0.23164	0.316788114976	0.31282	0.06568764159549773	0.06507	.	.	0.222160607576	0.01438	T	.	.	.	-0.39725	0.02413	T	-0.808399	0.01701	T	0.0816829286653207	0.10202	T	0.534647	0.17878	T	0.060357437	0.12375	0.07936777	0.17862	0.060357437	0.12375	0.07936777	0.17861	-6.055	0.46737	T	.	.	0.147	0.32517	B	.	.	0.735258	0.11045	7.700	0.060865936656048288	0.00019	0.01778	0.05572	N	AEFDBI	0.030371	0.03043	N	-0.705380915931966	0.15869	0.8036573	-0.931140720808663	0.11361	0.5783139	0.0012533547619343	0.08381	0.580535	0.33130	0	0.573888	0.26702	0	0.578056	0.29568	0	0.604944	0.38103	0	.	.	0.493	0.493	0.16087	-0.335000	0.07917	0.238000	0.16272	0.452000	0.21348	0.000000	0.06391	0.002000	0.18203	0.010000	0.09038	0.0:1.0:0.0:0.0	6.300	0.20313	794	0.45591	.	.	.	.	.	.	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	3234.03	95	chr8	10609948	.	C	T	3234.03	.	AC=1;AF=0.25;AN=4;BaseQRankSum=-3.261;DP=991;ExcessHet=0.4139;FS=338.08;MLEAC=2;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.57;ReadPosRankSum=3.66;SOR=10.2	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:162,112:274:99:0|1:10609944_A_G:2249,0,5101:10609944	1	0	1	5
chr8	12137979	12137979	G	A	exonic	USP17L2	.	nonsynonymous SNV	USP17L2:NM_201402:exon1:c.C782T:p.A261V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.00068416917784	.	0.000199681	0.0002	0	0.0001	0	0.0002	0.0002	0	0	3.84e-05	1	26028	rs533986354	5.888e-05	6.237e-05	4.548e-05	7.238e-05	0.0002	4.817e-05	4.462e-05	8.698e-05	5.919e-05	0.0002	0.0002	0	8.79e-05	2.084e-05	0	5.465e-05	3.579e-05	5.191e-05	2.858e-05	3.452e-05	5.556e-05	0	0.0002	9.68e-06	5.5e-06	2.156e-05	1.097e-05	8.134e-05	0	0	0	0.0002	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.022	0.18677	B	0.013	0.16460	B	0.539921	0.11547	N	0.703563	1	0.08975	N	-1.96	0.00210	N	3.54	0.04799	T	2.3	0.00290	N	0.062	0.03392	-0.9643	0.38350	T	0.003	0.00897	T	10	0.022297472	0.00553	T	6.84E-4	0.00400	T	0.058	0.16647	0.575	0.69957	0.0401082797425	0.02173	0.008152782907105586	0.00780	0.383782689865	0.39694	0.449901551008	0.31931	T	1.63E-4	0.00025	T	-0.406761	0.02089	T	-0.822061	0.01411	T	0.0173252834884414	0.00472	T	0.358764	0.08201	T	0.018077744	0.00330	0.03487848	0.02636	0.018077744	0.00330	0.03487848	0.02635	-1.999	0.03177	T	.	.	0.083	0.08997	B	.	.	0.101825	0.05034	1.580	0.75348365592430089	0.11040	0.00007	0.00120	N	AEFI	0.012884	0.00154	N	-2.0362643795621	0.00177	0.0075651	-2.00408017542291	0.00300	0.0132606	2.57450684922162E-6	0.01202	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.745	-1.49	0.08259	-0.625000	0.05630	-2.383000	0.03823	-1.713000	0.00740	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.4401:0.0:0.5599:0.0	4.577	0.11635	.	.	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	0	0	0	1	0	0	0	0.003222	0.000000	0.002857	0.000000	0.000000	0.009091	0.008333	0.000000	0.1667	4272.93	73	chr8	12137979	.	G	A	4272.93	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-1.844;DP=450;ExcessHet=0;FS=3.274;MLEAC=2;MLEAF=0.167;MQ=47.08;MQRankSum=-1.228;QD=27.93;ReadPosRankSum=1.55;SOR=0.436	GT:AD:DP:GQ:PL	1/1:1,152:153:99:4292,417,0	5	1	0	1
chr8	20254844	20254844	A	G	exonic	LZTS1	.	nonsynonymous SNV	LZTS1:NM_001362884:exon2:c.T338C:p.L113P,LZTS1:NM_021020:exon2:c.T338C:p.L113P	Esophageal squamous cell carcinoma, Autosomal dominant	0	1480	40	2	0	44	0.0146471	.	.	.	700516	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.354	0.0338852554034	0.0042	0.00299521	0.0045	0.0018	0.0039	0	0.0012	0.0063	0.0097	0.0025	0.0042173	652	154602	rs149140637	0.0052	0.0052	0.0052	0.0052	0.0205	0.0051	0.0051	0.0174	0.0163	0.0014	0.0042	0.0098	2.53e-05	0.0011	0.0205	0.0057	0.0060	0.0026	0.0040	0.0040	0.0042	0.0037	0.0060	0.0037	0.0036	0.0054	0.0053	0.0009	0	0.0060	0.0086	0	0.0007	0.0238	0.0059	0.0071	0.0025	0.0	0.91255	D	0.006	0.72224	D	0.999	0.90584	D	0.997	0.86255	D	0.001091	0.40303	N	0.214448	1	0.81001	D	2.58	0.75369	M	1.5	0.38718	T	-6.1	0.89985	D	0.943	0.97095	-0.7837	0.56093	T	0.158	0.49094	T	10	0.027623683	0.00905	T	0.033885	0.55297	D	0.354	0.67510	.	.	0.727851885501	0.72544	0.6753901809164145	0.67477	1.45333928757	0.86201	0.656072795391	0.60848	T	0.730833	0.92465	D	-0.03033	0.47369	T	0.185991	0.82341	D	0.0231129870043957	0.01037	T	0.750125	0.37153	T	0.84184533	0.86741	0.88534963	0.93937	0.8476286	0.87162	0.87759364	0.93394	-3.407	0.16501	T	0.5592211443023262	0.62711	0.175	0.38372	B	.;.;.	.;.;.	4.700428	0.75409	26.3	0.99906978083547093	0.97726	0.98655	0.85198	D	AEFDBI	0.945211	0.95323	D	0.732674363139512	0.81776	7.601635	0.754891387983602	0.86523	8.916282	0.99999995257974	0.74766	0.695654	0.57023	0	0.573888	0.26702	0	0.723109	0.80598	0	0.530356	0.10902	0	.	.	6.02	6.02	0.97559	7.441000	0.79617	11.127000	0.86698	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	1.0:0.0:0.0:0.0	15.366	0.74238	944	0.12746	.;.;.	.	.	.	.	.	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	0.023666	0.015152	0.023098	0.040936	0.000000	0.017241	0.018293	0.018939	0.07143	903.53	38	chr8	20254844	.	A	G	903.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.17;DP=239;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.34;ReadPosRankSum=0;SOR=0.602	GT:AD:DP:GQ:PL	0/1:31,32:63:99:914,0,808	6	0	1	0
chr8	39233925	39233925	G	A	exonic	ADAM32	.	nonsynonymous SNV	ADAM32:NM_001313994:exon13:c.G1364A:p.C455Y,ADAM32:NM_145004:exon16:c.G1661A:p.C554Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.473	0.0364457869202	.	.	2.691e-05	0	0	0	0	0	0	0.0002	1.29e-05	2	154602	rs749379276	4.201e-06	1.026e-05	1.391e-06	7.051e-06	6.34e-05	1.51e-06	9.9e-07	2.452e-05	1.545e-05	0	0	0	0	0	0	0	1.696e-05	6.34e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.998	0.90584	D	0.985	0.97372	D	0.002672	0.36137	N	0.000000	0.901766	0.36189	D	3.785	0.95291	H	-0.05	0.63403	T	-8.64	0.98901	D	0.941	0.96871	0.508	0.90659	D	0.554	0.83700	D	10	0.98953485	0.99422	D	0.036446	0.56996	D	0.473	0.76619	0.952	0.99447	0.899473973881	0.89847	0.993075786161504	0.99303	0.419090033863	0.42465	0.700534820557	0.67221	T	0.279582	0.65226	T	0.16387	0.70558	D	0.252657	0.85746	D	0.996899962425232	0.90310	D	0.80392	0.46506	T	0.89167386	0.90651	0.88219565	0.93716	0.89167386	0.90652	0.88219565	0.93716	-11.02	0.79768	D	.	.	0.998	0.98765	P	.;.;.	.;.;.	4.938443	0.81482	27.6	0.98993989966610252	0.50003	0.96289	0.68414	D	AEFDBI	0.712512	0.66561	D	0.787735946978125	0.85331	8.544575	0.641711907150502	0.77994	6.787914	0.996245461131594	0.34617	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	4.91	4.91	0.63897	4.964000	0.63410	11.814000	0.97026	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.436000	0.27583	0.0:0.0:1.0:0.0	13.469	0.60724	824	0.40336	ADAM, cysteine-rich|ADAM, cysteine-rich;ADAM, cysteine-rich|ADAM, cysteine-rich;ADAM, cysteine-rich|ADAM, 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	.	.	.	.	.	.	.	.	0.07143	555.45	37	chr8	39233925	.	G	A	555.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.52;DP=233;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.41;ReadPosRankSum=1.26;SOR=0.811	GT:AD:DP:GQ:PL	0/1:34,25:59:99:566,0,795	6	0	1	0
chr8	42887752	42887752	G	A	exonic	RNF170	.	nonsynonymous SNV	RNF170:NM_001160223:exon2:c.C113T:p.A38V,RNF170:NM_001160224:exon2:c.C113T:p.A38V,RNF170:NM_030954:exon2:c.C113T:p.A38V	Ataxia, sensory, 1, autosomal dominant, Autosomal dominant	1	1496	24	1	0	26	0.00861498	.	.	.	2840666	not_provided|RNF170-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.266	0.0649681256952	0.0008	0.000399361	0.0012	9.61e-05	0.0003	0.0001	0	0.0008	0	0.0055	0.0010867	168	154602	rs148611952	0.0014	0.0014	0.0012	0.0016	0.0059	0.0013	0.0013	0.0054	0.0053	0.0002	0.0003	0	0	3.744e-05	0.0029	0.0013	0.0011	0.0059	0.0008	0.0008	0.0008	0.0009	0.0062	0.0007	0.0007	0.0045	0.0039	0.0002	0	0.0003	0	0	0	0	0.0012	0.0014	0.0062	0.055	0.91255	T	0.015	0.61642	D	0.42	0.35330	B	0.098	0.30479	B	0.000001	0.84330	D	0.096186	0.999321	0.81001	D	1.7	0.43825	L	-1.85	0.84267	D	-1.16	0.55339	N	0.729	0.73015	-0.0630	0.80929	T	0.474	0.79826	T	10	0.0074149966	0.00169	T	0.064968	0.69439	D	0.266	0.57999	.	.	0.381939241115	0.37810	0.4175897230405353	0.41674	0.351719312492	0.37009	0.642617344856	0.58936	T	0.031045	0.21860	T	-0.199945	0.20812	T	-0.0579258	0.66477	T	0.0154213309431707	0.00346	T	0.907809	0.67374	D	0.31560427	0.54266	0.14893734	0.35187	0.3608555	0.57901	0.18431382	0.41474	-4.193	0.41331	T	.	.	0.113	0.33226	B	.;.;.;.;.;.	.;.;.;.;.;.	3.813450	0.55018	23.6	0.99700641358329467	0.80591	0.84384	0.43466	D	ALL	0.467876	0.51492	N	0.176347385696202	0.50065	3.200178	0.328010914027841	0.57191	3.884102	0.999999999999239	0.74766	0.839682	0.99964	0	0.736553	0.95680	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.68	5.68	0.88021	3.571000	0.53586	8.544000	0.77503	0.592000	0.32167	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.1397:0.8603:0.0	15.283	0.73507	295	0.88218	.;.;.;.;.;.	.	.	.	.	.	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	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.007576	0.07143	945.45	34	chr8	42887752	.	G	A	945.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.457;DP=274;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.85;ReadPosRankSum=-1.924;SOR=0.66	GT:AD:DP:GQ:PL	0/1:51,45:96:99:956,0,1272	6	0	1	0
chr8	51408349	51408349	A	G	exonic	PXDNL	.	nonsynonymous SNV	PXDNL:NM_144651:exon17:c.T3275C:p.I1092T	.	430	1091	0	1	0	2	0.000915751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.00979165564386	.	0.000599042	0.0006	0	0	0	0	0	0	0.0046	0.000511	79	154602	rs566662597	0.0002	0.0002	0.0001	0.0003	0.0035	0.0002	0.0002	0.0032	0.0031	0	0	0	0	0	0.0003	8.994e-07	3.313e-05	0.0035	9.847e-05	9.842e-05	5.138e-05	0.0001	0.0031	6.001e-05	4.875e-05	0.0019	0.0015	0	0	0	0	0	0	0	0	0	0.0031	0.042	0.41637	D	0.08	0.41913	T	0.037	0.20876	B	0.063	0.27082	B	0.051143	0.23008	N	0.312329	0.999986	0.18198	N	1.385	0.34509	L	-0.39	0.69158	T	-3.16	0.64246	D	0.1	0.08227	-1.0254	0.21952	T	0.093	0.35336	T	10	0.006334573	0.00143	T	0.009792	0.25540	T	0.144	0.38394	0.633	0.76921	0.344251166708	0.34027	0.3962046423093606	0.39535	0.168630496494	0.19017	0.55393242836	0.46411	T	0.023022	0.17644	T	-0.447118	0.01174	T	-0.415312	0.31613	T	0.0539621406800973	0.06183	T	0.840916	0.51656	T	0.11350901	0.26806	0.15084891	0.35559	0.11350901	0.26806	0.15084891	0.35558	-6.541	0.50602	T	.	.	0.412	0.60259	A	.	.	1.083867	0.14671	11.22	0.60625125213358722	0.06509	0.15407	0.18896	N	AEFDI	0.146484	0.26995	N	-0.675726963039729	0.16715	0.8540276	-0.803219020405007	0.14418	0.7532127	0.583453013372419	0.21589	0.580535	0.33130	0	0.573888	0.26702	0	0.576033	0.28219	0	0.564101	0.26826	0	.	.	3.82	2.64	0.30504	4.229000	0.58425	1.078000	0.23865	-0.050000	0.17177	0.815000	0.29920	0.000000	0.08366	0.000000	0.00833	0.885:0.0:0.115:0.0	7.137	0.24712	895	0.25842	Peroxidasin, peroxidase 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	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.07143	1059.63	38	chr8	51408349	.	A	G	1059.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.3;DP=277;ExcessHet=0;FS=0.791;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.77;ReadPosRankSum=0.219;SOR=0.816	GT:AD:DP:GQ:PL	0/1:49,41:90:99:1070,0,1276	6	0	1	0
chr8	64581463	64581463	-	GCAGCA	exonic	BHLHE22	.	nonframeshift insertion	BHLHE22:NM_152414:exon1:c.673_674insGCAGCA:p.S234_K235insSS	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0349	.	0.001	0.0027	0.0031	0	0	0.0012	0	0.0008	0.0003842	10	26028	rs564889045	0.0035	0.0034	0.0036	0.0035	0.0078	0.0035	0.0034	0.0070	0.0067	0.0078	0.0026	0.0006	0.0009	0.0007	0.0030	0.0039	0.0038	0.0012	0.0045	0.0045	0.0047	0.0043	0.0076	0.0042	0.0041	0.0069	0.0066	0.0076	0	0.0043	0.0003	0.0010	0.0006	0	0.0040	0.0032	0.0011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	2198.59	27	chr8	64581463	.	G	GGCAGCA	2198.59	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.06;DP=246;ExcessHet=0.3476;FS=0.782;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=21.99;ReadPosRankSum=-0.377;SOR=0.546	GT:AD:DP:GQ:PL	0/1:25,28:53:99:1038,0,956	6	0	1	0
chr8	66154096	66154096	C	T	exonic	TRIM55	.	nonsynonymous SNV	TRIM55:NM_033058:exon9:c.C1286T:p.P429L,TRIM55:NM_184085:exon9:c.C1286T:p.P429L	.	424	1096	1	1	0	3	0.00136674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.00568747619884	.	.	1.651e-05	0	0	0	0	3.004e-05	0	0	1.94e-05	3	154602	rs775939537	1.231e-05	1.231e-05	1.497e-05	9.625e-06	1.349e-05	7.7e-06	6.35e-06	8.1e-06	6.42e-06	0	0	0	0	0	0	1.349e-05	4.967e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	0.48186	D	0.047	0.48855	D	0.22	0.33195	B	0.036	0.28749	B	0.015275	0.28293	N	0.307307	0.977527	0.81001	D	2.075	0.57047	M	1.6	0.28836	T	-0.7	0.19933	N	0.283	0.32037	-1.1033	0.03714	T	0.049	0.20829	T	10	0.14688402	0.27840	T	0.005687	0.14742	T	0.024	0.04979	0.213	0.13210	0.455265801863	0.45150	0.13645006087210365	0.13569	0.0501364724578	0.05501	0.429083585739	0.29083	T	0.161314	0.50552	T	-0.197408	0.21179	T	-0.505854	0.21741	T	0.375408351421356	0.28006	T	0.864914	0.56785	D	0.07868841	0.17934	0.06814461	0.14193	0.07868841	0.17934	0.06814461	0.14193	-5.25	0.39445	T	.	.	0.071	0.07224	B	.;.	.;.	3.781401	0.54376	23.5	0.99710139132440434	0.81283	0.71200	0.34911	D	AEFBCI	0.500846	0.53394	D	0.0498619601091698	0.44135	2.693201	0.236586661438582	0.51891	3.367745	0.99980240429207	0.43304	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.94	5.0	0.66209	2.595000	0.45861	6.103000	0.53575	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.376:0.624:0.0:0.0	11.731	0.51006	881	0.29269	.;.	.	.	.	.	.	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	1751.46	34	chr8	66154096	.	C	T	1751.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.39;DP=332;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.25;ReadPosRankSum=-0.915;SOR=0.733	GT:AD:DP:GQ:PL	0/1:72,71:143:99:1762,0,1692	6	0	1	0
chr8	67267206	67267206	T	G	exonic	ARFGEF1	.	nonsynonymous SNV	ARFGEF1:NM_006421:exon12:c.A1697C:p.Y566S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.827	0.185111105236	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	3.615	0.93875	H	-0.14	0.65006	T	-8.21	0.96839	D	0.903	0.90363	0.359	0.88479	D	0.556	0.83808	D	10	0.9076985	0.90135	D	0.185111	0.85792	D	0.827	0.94503	0.744	0.87570	0.87037615458	0.86911	0.9092638382302259	0.90900	2.66344963391	0.98472	0.932812094688	0.99139	D	0.543141	0.84394	D	0.399337	0.89876	D	0.335844	0.89748	D	0.999809205532074	0.99090	D	0.994967	0.98297	D	0.9542225	0.96695	0.9234184	0.96638	0.9542225	0.96696	0.9234184	0.96638	-14.814	0.95401	D	.	.	0.994	0.95244	P	.	.	4.277610	0.65129	24.8	0.99153331616312945	0.53875	0.99263	0.93634	D	AEBI	0.859364	0.77703	D	0.963041333664288	0.94489	12.79763	0.891701606307143	0.95200	13.402	0.999999722328493	0.74766	0.732398	0.92422	0	0.709663	0.81188	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.64	5.64	0.86480	7.941000	0.87167	.	.	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	15.858	0.78774	515	0.74782	Guanine nucleotide exchange factor, N-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	.	.	.	.	.	.	.	.	0.1	113.13	61	chr8	67267206	.	T	G	113.13	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-1.52;DP=425;ExcessHet=0;FS=192.823;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.93;ReadPosRankSum=4.22;SOR=7.941	GT:AD:DP:GQ:PL	0/1:85,37:122:99:121,0,1352	4	0	1	2
chr8	95247720	95247720	T	C	exonic	C8orf37	.	nonsynonymous SNV	C8orf37:NM_001363260:exon5:c.A425G:p.K142R,C8orf37:NM_177965:exon6:c.A521G:p.K174R	Cone-rod dystrophy 16, Autosomal recessive;Retinitis pigmentosa 64, Autosomal recessive	0	1516	6	0	0	6	0.00197498	.	.	.	267667	not_provided|Cone-rod_dystrophy_16|Retinitis_pigmentosa|not_specified	MedGen:C3661900|MONDO:MONDO:0013786,MedGen:C3281045,OMIM:614500|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.167	0.0259562080629	0.0004	0.000998403	0.0007	0	0	0	0	0.0010	0.0011	0.0013	0.0006727	104	154602	rs148114532	0.0005	0.0005	0.0004	0.0006	0.0014	0.0005	0.0004	0.0012	0.0011	0	2.246e-05	0.0122	0	0	0.0010	0.0002	0.0012	0.0014	0.0004	0.0004	0.0004	0.0005	0.0025	0.0004	0.0003	0.0014	0.0011	0	0	0	0.0112	0	0	0	0.0002	0	0.0025	0.293	0.14843	T	0.45	0.12957	T	0.433	0.35643	B	0.127	0.32738	B	0.007277	0.31496	N	0.355327	0.95456	0.26365	N	2.045	0.56016	M	-1.65	0.82625	D	-1.2	0.30555	N	0.126	0.11912	-0.5507	0.66760	T	0.422	0.76670	T	10	0.0063038766	0.00142	T	0.025956	0.48901	D	0.167	0.42761	.	.	0.606927088724	0.60377	0.19837312854740127	0.19754	0.159409428021	0.17987	.	.	.	0.310923	0.68285	T	-0.384855	0.02902	T	-0.376035	0.36184	T	0.0410627918392547	0.03883	T	0.80032	0.44603	T	0.08940373	0.20888	0.050609626	0.07978	0.08940373	0.20887	0.050609626	0.07978	-3.663	0.18773	T	0.198540064356277	0.26293	0.075	0.05447	B	.	.	1.920467	0.24388	16.38	0.99559109321019845	0.71645	0.73250	0.35833	D	AEFBIJ	0.125209	0.24161	N	-0.258030776434696	0.30784	1.719755	-0.237901257197043	0.30190	1.697726	0.770546019552101	0.23664	0.638212	0.43195	0	0.588066	0.40923	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.42	1.45	0.21708	0.558000	0.23174	2.323000	0.32147	0.665000	0.62972	0.934000	0.32416	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.3813:0.6187	13.087	0.58562	787	0.46738	.	.	.	.	.	.	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	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.07143	1004.63	33	chr8	95247720	.	T	C	1004.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.186;DP=269;ExcessHet=0;FS=0.757;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.36;ReadPosRankSum=0.325;SOR=0.599	GT:AD:DP:GQ:PL	0/1:51,46:97:99:1015,0,1191	6	0	1	0
chr8	97277010	97277010	T	C	exonic	TSPYL5	.	nonsynonymous SNV	TSPYL5:NM_033512:exon1:c.A835G:p.S279G	.	433	1080	8	1	0	10	0.00460829	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.0120280513163	0.0047	0.00159744	0.0035	0.0013	0.0023	0	0.0026	0.0049	0.0022	0.0024	0.0037386	578	154602	rs151015596	0.0059	0.0059	0.0061	0.0058	0.0070	0.0058	0.0058	0.0069	0.0068	0.0010	0.0030	0.0004	0	0.0030	0.0054	0.0070	0.0051	0.0028	0.0042	0.0042	0.0043	0.0040	0.0071	0.0039	0.0038	0.0066	0.0064	0.0009	0	0.0035	0.0006	0.0002	0.0026	0.0068	0.0071	0.0043	0.0035	0.013	0.53900	D	0.032	0.53426	D	0.051	0.22415	B	0.063	0.27082	B	0.055407	0.22644	N	0.320230	0.994656	0.23472	N	1.845	0.48678	L	1.49	0.31470	T	-1.58	0.38151	N	0.145	0.14622	-1.0444	0.16000	T	0.048	0.20672	T	10	0.0062108934	0.00140	T	0.012028	0.30231	T	0.065	0.18881	.	.	0.082315109003	0.07666	0.4114783858243395	0.41063	0.581322784545	0.53937	0.383722424507	0.22783	T	0.018951	0.15187	T	-0.482428	0.00716	T	-0.461186	0.26469	T	0.0188990499795032	0.00600	T	0.754725	0.37732	T	0.17266285	0.37970	0.13178042	0.31637	0.17266285	0.37969	0.13178042	0.31636	-5.714	0.43818	T	.	.	0.159	0.35162	B	.	.	2.780143	0.36519	20.3	0.99578539910979413	0.72861	0.67487	0.33450	D	AEFDBCI	0.216248	0.34152	N	-0.232850280834168	0.31792	1.78633	-0.154583948683123	0.33232	1.898845	0.999999810905252	0.74766	0.660085	0.49399	0	0.662677	0.63036	0	0.662677	0.59975	0	0.536845	0.12434	2	.	.	4.4	4.4	0.52402	2.791000	0.47520	3.640000	0.39343	0.665000	0.62972	0.966000	0.33990	0.998000	0.33993	0.644000	0.32530	0.0:0.0:0.0:1.0	10.313	0.42902	776	0.48302	.	.	.	.	.	.	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	0.004532	0.000000	0.005435	0.000000	0.050000	0.000000	0.006098	0.003788	0.07143	2243.83	38	chr8	97277010	.	T	C	2243.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.937;DP=361;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.48;ReadPosRankSum=1.21;SOR=0.703	GT:AD:DP:GQ:PL	0/1:61,94:155:99:2254,0,1520	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	0/1:24,27:51:99:640,0,612	4	0	3	0
chr8	98018107	98018107	C	T	exonic	MATN2	.	nonsynonymous SNV	MATN2:NM_001317748:exon11:c.C1687T:p.R563C,MATN2:NM_002380:exon12:c.C1810T:p.R604C,MATN2:NM_030583:exon12:c.C1810T:p.R604C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.234	0.0893456460799	8e-05	0.000199681	0.0002	0	0.0003	0.0003	0	0.0001	0	0.0008	0.000207	32	154602	rs367737640	0.0002	0.0002	0.0002	0.0002	0.0009	0.0002	0.0002	0.0007	0.0006	2.988e-05	0.0004	0	0.0009	0.0001	0	0.0002	0.0003	0.0005	0.0002	0.0002	0.0003	0.0001	0.0006	0.0002	0.0001	0.0002	0.0002	4.812e-05	0	0.0003	0	0.0002	9.422e-05	0	0.0003	0	0.0006	0.03	0.55530	D	0.094	0.40110	T	0.965	0.56013	D	0.345	0.49608	B	0.299748	0.14619	N	0.643455	0.852989	0.43612	D	1.545	0.39105	L	-4.01	0.96370	D	-0.98	0.25986	N	0.317	0.39760	-0.4972	0.68750	T	0.270	0.64109	T	10	0.17793429	0.32852	T	0.089346	0.75310	D	0.477	0.76881	.	.	0.970991539935	0.97068	0.7257048862356941	0.72514	0.765395177526	0.64468	0.205249249935	0.00625	T	0.253892	0.62447	T	-0.106142	0.35407	T	-0.0107465	0.69636	D	0.09102502545614	0.11339	T	0.39616	0.13467	T	0.4005751	0.60772	0.1777597	0.40399	0.4005751	0.60772	0.1777597	0.40398	-11.422	0.81922	D	.	.	0.186	0.40262	B	.;.;.;.;.	.;.;.;.;.	3.950905	0.57877	23.9	0.9988602177165381	0.96126	0.82808	0.41986	D	AEFDGBHIJ	0.696004	0.65449	D	0.0349212324913726	0.43451	2.63764	-0.0250816159412914	0.38586	2.27544	0.999999974044406	0.74766	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.579976	0.35079	0	.	.	5.2	4.28	0.50183	4.603000	0.60812	2.819000	0.34952	0.599000	0.40250	0.381000	0.26014	0.047000	0.21741	0.002000	0.04165	0.3278:0.6722:0.0:0.0	12.597	0.55830	815	0.41851	.;EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;.;.;EGF-like, conserved site|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	.	.	.	.	.	.	.	.	0.07143	1089.45	36	chr8	98018107	.	C	T	1089.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.822;DP=292;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.48;ReadPosRankSum=-1.324;SOR=0.69	GT:AD:DP:GQ:PL	0/1:56,48:104:99:1100,0,1242	6	0	1	0
chr8	100264775	100264775	C	T	exonic	RNF19A	.	nonsynonymous SNV	RNF19A:NM_001353837:exon6:c.G1202A:p.R401H,RNF19A:NM_001353838:exon6:c.G1202A:p.R401H,RNF19A:NM_183419:exon6:c.G1202A:p.R401H,RNF19A:NM_001280539:exon7:c.G1202A:p.R401H,RNF19A:NM_015435:exon7:c.G1202A:p.R401H	.	434	1071	16	1	0	18	0.00833333	.	.	.	2821198	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.814	0.109291667989	0.0011	.	0.0017	0.0002	0.0002	0	0	0.0009	0.0022	0.0084	0.0014489	224	154602	rs138968684	0.0009	0.0009	0.0007	0.0011	0.0073	0.0008	0.0008	0.0065	0.0063	0.0005	0.0003	0.0010	0	3.745e-05	0.0073	0.0005	0.0012	0.0069	0.0005	0.0005	0.0005	0.0006	0.0056	0.0004	0.0004	0.0039	0.0034	0.0002	0	0.0005	0.0009	0	0	0.0102	0.0005	0.0005	0.0056	0.061	0.37118	T	0.049	0.48336	D	0.996	0.68779	D	0.732	0.55359	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.975	0.53506	M	-1.92	0.84773	D	-3.85	0.72353	D	0.944	0.95608	0.308	0.87678	D	0.627	0.86915	D	10	0.06466049	0.08607	T	0.109292	0.78620	D	0.814	0.94008	.	.	0.807124144544	0.80531	0.8714865030228935	0.87114	2.21629160257	0.95813	0.761706590652	0.76183	T	0.357901	0.72454	T	0.00774311	0.52716	T	0.242491	0.85266	D	0.367030411958694	0.27682	T	0.949705	0.80662	D	0.33311704	0.55725	0.20045108	0.43977	0.33311704	0.55725	0.20045108	0.43976	-8.926	0.67219	D	.	.	0.196	0.45966	B	.;.	.;.	5.489573	0.91466	32	0.99945723375009343	0.99901	0.99182	0.92439	D	AEFBI	0.900677	0.84649	D	0.678784106770142	0.78243	6.832305	0.696204668200833	0.82090	7.681772	0.999999999999492	0.74766	0.732398	0.92422	0	0.702456	0.74545	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.17	5.17	0.70848	7.568000	0.81546	7.666000	0.64515	-0.176000	0.10722	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:1.0:0.0:0.0	18.703	0.91590	248	0.90287	.;.	.	.	.	.	.	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	0.008056	0.005051	0.012228	0.000000	0.000000	0.008621	0.003049	0.018939	0.07143	1892.83	35	chr8	100264775	.	C	T	1892.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.942;DP=347;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.33;ReadPosRankSum=0.608;SOR=0.714	GT:AD:DP:GQ:PL	0/1:83,84:167:99:1903,0,1751	6	0	1	0
chr8	100715486	100715486	G	A	exonic	PABPC1	.	nonsynonymous SNV	PABPC1:NM_002568:exon4:c.C619T:p.L207F	.	434	996	90	2	0	94	0.0450623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.352	0.0321915266204	.	.	0.0008	0.0011	0.0005	0.0001	0.0005	0.0006	0.0011	0.0018	3.84e-05	1	26028	rs200538577	0.0005	0.0068	0.0003	0.0006	0.0015	0.0005	0.0004	0.0013	0.0012	0.0009	0.0008	0.0003	0.0003	0.0005	0.0007	0.0004	0.0004	0.0015	1.976e-05	0.0003	2.574e-05	1.349e-05	6.563e-05	5.25e-06	2.46e-06	.	.	0	0	6.563e-05	0	0	0.0002	0	0	0	0	0.167	0.33585	T	0.241	0.25987	T	0.999	0.90584	D	0.987	0.92359	D	0.000038	0.55875	D	0.000000	0.999998	0.58761	D	2.615	0.76484	M	0.9	0.45248	T	-3.85	0.72353	D	0.673	0.79406	-0.1677	0.78484	T	0.430	0.77232	T	10	0.34286356	0.51309	T	0.032192	0.54080	D	0.352	0.67326	.	.	0.651505733821	0.64860	0.9496357464987214	0.94946	2.50878901569	0.97686	0.823625564575	0.85584	D	0.301209	0.67367	T	0.111036	0.65460	D	-0.0782811	0.65029	T	0.724288105964661	0.41916	D	0.842116	0.51841	T	0.6164814	0.73575	0.6622684	0.80207	0.6164814	0.73576	0.6622684	0.80208	-7.648	0.58645	D	.	.	0.961	0.88272	P	.;.;.;.	.;.;.;.	5.123957	0.85718	28.7	0.99849028324561662	0.92838	0.96200	0.67994	D	AEFBCI	0.946881	0.95683	D	0.540100640977737	0.69482	5.363063	0.580062317229085	0.73511	5.982518	0.999999999963179	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.03	5.03	0.67015	8.094000	0.89363	11.928000	0.99887	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.734	0.91711	257	0.89904	RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain, eukaryote;RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain, eukaryote;RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain, eukaryote;RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain, eukaryote	.	.	.	.	.	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	0.008569	0.005051	0.002717	0.017544	0.000000	0.008621	0.009202	0.015152	0.07143	171.44	35	chr8	100715486	.	G	A	171.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.847;DP=348;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=58.42;MQRankSum=-10.84;QD=1.44;ReadPosRankSum=-1.377;SOR=0.675	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:107,12:119:99:0|1:100715486_G_A:182,0,4415:100715486	6	0	1	0
chr8	100715488	100715488	C	T	exonic	PABPC1	.	nonsynonymous SNV	PABPC1:NM_002568:exon4:c.G617A:p.R206H	.	435	994	91	2	0	95	0.0456073	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.0174172121272	.	.	0.0008	0.0011	0.0005	0.0001	0.0005	0.0006	0.0011	0.0018	3.84e-05	1	26028	rs201157005	0.0005	0.0069	0.0003	0.0007	0.0015	0.0005	0.0005	0.0013	0.0012	0.0008	0.0007	0.0004	0.0004	0.0004	0.0005	0.0004	0.0004	0.0015	2.634e-05	0.0004	2.574e-05	2.697e-05	6.562e-05	8.16e-06	5.15e-06	4.88e-06	1.83e-06	0	0	6.562e-05	0	0	9.498e-05	0	2.943e-05	0	0	0.104	0.32929	T	0.087	0.40747	T	0.114	0.26387	B	0.026	0.20792	B	0.000024	0.55875	D	0.000000	0.989803	0.44143	D	0.27	0.09956	N	-1.84	0.84195	D	-2.67	0.57110	D	0.39	0.50868	-0.7904	0.55706	T	0.034	0.14769	T	10	0.1279509	0.24336	T	0.017417	0.39111	T	0.200	0.48430	.	.	0.817802494989	0.81608	0.6879894380572398	0.68738	1.50341484679	0.87080	0.749547362328	0.74379	T	0.220124	0.58332	T	0.0812148	0.62184	D	-0.121117	0.61711	T	0.0662832285963091	0.08119	T	0.440256	0.19484	T	0.2739007	0.50457	0.17737965	0.40337	0.2739007	0.50457	0.17737965	0.40336	-5.419	0.41102	T	.	.	0.143	0.40114	B	.;.;.;.	.;.;.;.	4.551815	0.71641	25.7	0.99505552782187323	0.68322	0.87893	0.47592	D	AEFBCI	0.597824	0.59146	D	0.0267288125961019	0.43073	2.607469	0.217228135065218	0.50803	3.268583	0.999999999646868	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.03	5.03	0.67015	6.083000	0.70975	6.037000	0.52980	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	18.734	0.91711	257	0.89904	RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain, eukaryote;RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain, eukaryote;RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain, eukaryote;RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain, eukaryote	.	.	.	.	.	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	0.007056	0.005051	0.002717	0.008772	0.000000	0.017241	0.012270	0.015152	0.07143	171.44	35	chr8	100715488	.	C	T	171.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.967;DP=351;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=58.41;MQRankSum=-10.84;QD=1.44;ReadPosRankSum=-1.254;SOR=0.675	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:107,12:119:99:0|1:100715486_G_A:182,0,4415:100715486	6	0	1	0
chr8	100715564	100715564	C	T	exonic	PABPC1	.	nonsynonymous SNV	PABPC1:NM_002568:exon4:c.G541A:p.A181T	.	439	1020	63	0	0	63	0.0299572	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.137	0.0340158553091	.	.	0.0025	0.0035	0.0022	0.0022	0.0029	0.0026	0.0045	0.0017	3.84e-05	1	26028	rs201575415	0.0002	0.0051	0.0002	0.0003	0.0012	0.0002	0.0002	0.0010	0.0009	0.0002	0.0003	0.0001	2.551e-05	0.0002	0.0002	0.0002	0.0002	0.0012	1.316e-05	0.0003	2.572e-05	0	.	2.19e-06	8.2e-07	.	.	0	0	0	0	0	0.0002	0	0	0	0	0.064	0.36912	T	0.235	0.24987	T	0.935	0.52277	P	0.543	0.52749	P	0.000007	0.62929	D	0.000000	0.999998	0.58761	D	1.86	0.49225	L	-2.01	0.85468	D	-1.72	0.40850	N	0.516	0.58968	-0.4866	0.69129	T	0.348	0.71289	T	10	0.04839903	0.04285	T	0.034016	0.55387	D	0.169	0.43123	.	.	0.771171459251	0.76907	0.7074090065815354	0.70682	1.20548367747	0.80694	0.786288261414	0.79878	T	0.135364	0.46714	T	0.117018	0.66071	D	-0.0696881	0.65648	T	0.141958981752396	0.16443	T	0.819218	0.48387	T	0.4579477	0.64543	0.32566392	0.58480	0.4579477	0.64544	0.32566392	0.58479	-8.102	0.61764	D	.	.	0.410	0.65091	A	.;.;.;.	.;.;.;.	4.555899	0.71747	25.7	0.99762505917770328	0.85172	0.97559	0.75543	D	AEFDBCI	0.789396	0.71860	D	0.434520686034361	0.63332	4.564763	0.497820100196361	0.67844	5.138917	0.99999999998101	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.12	5.12	0.69459	6.081000	0.70951	7.691000	0.65788	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:1.0:0.0:0.0	18.941	0.92581	257	0.89904	.;.;.;.	.	.	.	.	.	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	0.019637	0.025253	0.008152	0.035088	0.000000	0.017241	0.033537	0.007576	0.1429	191.26	35	chr8	100715564	.	C	T	191.26	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.652;DP=292;ExcessHet=0.3476;FS=2.314;MLEAC=2;MLEAF=0.143;MQ=58.39;MQRankSum=-7.967;QD=1.31;ReadPosRankSum=0.165;SOR=0.42	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:71,10:81:99:0|1:100715564_C_T:186,0,2902:100715564	5	0	2	0
chr8	100715573	100715573	C	T	exonic	PABPC1	.	nonsynonymous SNV	PABPC1:NM_002568:exon4:c.G532A:p.E178K	.	441	1026	55	0	0	55	0.0261035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.503	.	.	0.0219649	0.0025	0.0035	0.0022	0.0023	0.0029	0.0026	0.0045	0.0017	0.0042646	111	26028	rs77943211	0.0003	0.0051	0.0002	0.0004	0.0015	0.0002	0.0002	0.0013	0.0012	0.0002	0.0002	0.0002	2.555e-05	0.0002	0.0002	0.0002	0.0001	0.0015	1.316e-05	0.0002	2.572e-05	0	.	2.19e-06	8.2e-07	.	.	0	0	0	0	0	0.0002	0	0	0	0	0.032	0.45756	D	0.015	0.61642	D	0.286	0.32207	B	0.061	0.45591	B	0.000005	0.62929	D	0.000000	1	0.81001	D	2.225	0.63025	M	-2.04	0.85703	D	-3.54	0.68651	D	0.823	0.83576	0.077	0.83756	D	0.512	0.81695	D	10	0.0101109445	0.00226	T	.	.	.	0.503	0.78538	.	.	0.953104725419	0.95260	0.8696903883109477	0.86934	1.38178511631	0.84794	0.873889565468	0.93120	D	0.372911	0.73700	T	0.375301	0.88405	D	0.301318	0.88258	D	0.243424355983734	0.22576	T	0.878012	0.59504	D	0.73998535	0.80291	0.5465805	0.73789	0.73998535	0.80293	0.5465805	0.73789	-14.561	0.94737	D	.	.	0.996	0.96595	P	.;.;.;.	.;.;.;.	5.082654	0.84829	28.4	0.99878284547104212	0.95491	0.98536	0.83832	D	AEFDBCI	0.934952	0.92909	D	0.584502628728173	0.72206	5.769507	0.61533588336354	0.76051	6.420702	1.0	0.98316	0.722319	0.85440	0	0.698795	0.70079	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.12	5.12	0.69459	7.905000	0.86479	7.691000	0.65788	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:1.0:0.0:0.0	18.941	0.92581	257	0.89904	.;.;.;.	.	.	.	.	.	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	0.023162	0.040404	0.009511	0.043860	0.000000	0.017241	0.036585	0.007576	0.07143	171.5	35	chr8	100715573	.	C	T	171.5	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.09;DP=283;ExcessHet=0;FS=2.505;MLEAC=1;MLEAF=0.071;MQ=58.59;MQRankSum=-7.9;QD=2.32;ReadPosRankSum=-0.562;SOR=0.394	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:65,9:74:99:0|1:100715564_C_T:182,0,2702:100715564	6	0	1	0
chr8	133191182	133191182	C	T	exonic	CCN4	.	nonsynonymous SNV	CCN4:NM_001204869:exon1:c.C38T:p.T13I,CCN4:NM_001204870:exon1:c.C38T:p.T13I,CCN4:NM_003882:exon1:c.C38T:p.T13I,CCN4:NM_080838:exon1:c.C38T:p.T13I	.	430	1077	13	2	0	17	0.00783049	.	.	.	3292544	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.280	0.0356155637784	0.0005	0.000199681	0.0004	0	0.0004	0	0	0.0004	0.0029	0.0007	0.000304	47	154602	rs149172980	0.0004	0.0004	0.0004	0.0004	0.0107	0.0004	0.0003	0.0085	0.0077	0.0002	0.0004	0.0016	0	0	0.0107	0.0003	0.0007	0.0006	0.0003	0.0003	0.0004	0.0003	0.0012	0.0002	0.0002	0.0005	0.0004	4.812e-05	0	0.0006	0.0014	0	0	0	0.0004	0.0009	0.0012	0.113	0.43085	T	0.304	0.92824	T	0.001	0.12996	B	0.002	0.11217	B	0.564578	0.05444	N	1.249740	0.783441	0.34296	D	1.39	0.34934	L	-1.18	0.82806	T	-1.15	0.32590	N	0.271	0.34981	-0.6517	0.62640	T	0.344	0.70964	T	10	0.03453362	0.01665	T	0.035616	0.56462	D	0.280	0.59740	.	.	0.657540335597	0.65467	0.2011292496138533	0.20029	0.638599242714	0.57569	0.468920230865	0.34531	T	0.060963	0.31527	T	-0.226253	0.17148	T	-0.222224	0.52522	T	0.0302072114409639	0.02021	T	0.678032	0.28700	T	0.06633928	0.14263	0.08049462	0.18213	0.06633928	0.14262	0.08049462	0.18213	-4.709	0.34440	T	.	.	0.165	0.49186	B	.;.;.;.	.;.;.;.	2.833218	0.37356	20.5	0.99505252323292237	0.68264	0.68000	0.33638	D	AEFDGBI	0.053565	0.09663	N	-0.541885250640801	0.20739	1.095508	-0.380996507100726	0.25564	1.406622	0.999999958140857	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.36	3.53	0.39533	0.549000	0.23037	1.702000	0.28138	0.599000	0.40250	0.597000	0.27722	0.888000	0.27792	0.980000	0.58198	0.0:0.8134:0.0:0.1866	8.746	0.33750	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	0.009654	0.000000	0.009511	0.014706	0.000000	0.034483	0.006289	0.003817	0.07143	609.63	36	chr8	133191182	.	C	T	609.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.645;DP=223;ExcessHet=0;FS=2.182;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.16;ReadPosRankSum=0.882;SOR=0.657	GT:AD:DP:GQ:PL	0/1:32,28:60:99:620,0,766	6	0	1	0
chr8	140283925	140283925	G	A	exonic	TRAPPC9	.	nonsynonymous SNV	TRAPPC9:NM_001321646:exon13:c.C2051T:p.A684V,TRAPPC9:NM_001374684:exon13:c.C1934T:p.A645V,TRAPPC9:NM_001160372:exon14:c.C2078T:p.A693V,TRAPPC9:NM_001374683:exon14:c.C2078T:p.A693V,TRAPPC9:NM_031466:exon14:c.C2078T:p.A693V,TRAPPC9:NM_001374682:exon15:c.C2099T:p.A700V	Mental retardation, autosomal recessive 13, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.385	0.035441099136	.	.	8.239e-06	0	0	0	0	0	0	6.056e-05	6.5e-06	1	154602	rs767914895	8.209e-06	8.209e-06	1.089e-05	5.5e-06	0.0003	4.38e-06	3.46e-06	6.094e-05	2.522e-05	0	4.472e-05	0	0	0	0.0003	4.496e-06	3.312e-05	1.159e-05	1.315e-05	1.314e-05	1.286e-05	1.346e-05	6.553e-05	2.19e-06	8.2e-07	.	.	2.416e-05	0	6.553e-05	0	0	0	0	0	0	0	0.005	0.63226	D	0.008	0.67890	D	0.941	0.77913	P	0.641	0.64351	P	0.000099	0.51296	D	0.174005	0.99995	0.52396	D	1.935	0.51832	L	.	.	.	-2.85	0.60029	D	0.52	0.62188	-0.4315	0.71017	T	0.403	0.75352	T	9	0.6478286	0.69429	D	0.035441	0.56343	D	0.385	0.70194	0.453	0.51612	0.229924730088	0.22615	0.4938502140555826	0.49306	0.412596095774	0.41996	0.621737241745	0.55975	T	0.34042	0.70945	T	-0.0786194	0.39938	T	-0.174861	0.56997	T	0.929795265197754	0.59408	D	0.949405	0.80515	D	0.22636546	0.45316	0.23040335	0.48142	0.22636546	0.45316	0.23040335	0.48141	-10.123	0.75100	D	.	.	0.161	0.37839	B	.;.;.;.	.;.;.;.	4.223062	0.63889	24.6	0.99853474977490175	0.93279	0.98940	0.88919	D	AEFGI	0.776021	0.70926	D	0.535641675164282	0.69212	5.325126	0.472009542579976	0.66142	4.913704	0.999999999233663	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.55	5.55	0.83298	9.074000	0.93407	11.746000	0.95299	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.018000	0.11154	0.0:0.0:1.0:0.0	19.503	0.95094	988	0.01987	.;.;.;.	.	.	.	.	.	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	2119.44	40	chr8	140283925	.	G	A	2119.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.905;DP=389;ExcessHet=0;FS=1.136;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.27;ReadPosRankSum=-0.122;SOR=0.584	GT:AD:DP:GQ:PL	0/1:97,91:188:99:2130,0,2157	6	0	1	0
chr8	143727792	143727792	C	A	exonic	FAM83H	.	nonsynonymous SNV	FAM83H:NM_198488:exon5:c.G1669T:p.G557C	Amelogenesis imperfecta, type III, Autosomal dominant	9	1502	10	1	0	12	0.00397878	.	.	.	790784	not_provided|Amelogenesis_imperfecta,_hypocalcification_type|FAM83H-related_disorder	MedGen:C3661900|MONDO:MONDO:0968955,MedGen:C0399376,Orphanet:100032,Orphanet:88661|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.073	.	.	0.000199681	0.0057	0	0	0	.	0.0357	0	0.0022	0.0004528	70	154602	rs312262803	0.0027	0.0024	0.0026	0.0027	0.0044	0.0026	0.0026	0.0028	0.0028	0.0005	0.0021	0.0034	0	0.0017	0.0044	0.0029	0.0025	0.0016	0.0018	0.0018	0.0017	0.0018	0.0027	0.0016	0.0015	0.0024	0.0023	0.0005	0	0.0016	0.0026	0	0.0014	0.0068	0.0027	0.0028	0.0010	0.004	0.65419	D	0.033	0.53072	D	0.985	0.61118	D	0.628	0.51677	P	0.003643	0.00976	U	490.647000	0.999478	0.21134	N	2.24	0.63355	M	2.42	0.15376	T	-2.33	0.51646	N	0.385	0.42639	-1.0119	0.26322	T	0.054	0.22808	T	10	0.0055520833	0.00123	T	.	.	.	0.073	0.21317	.	.	0.043077524339	0.03247	0.2261153594599419	0.22526	1.00671276343	0.74603	0.878267168999	0.93726	D	0.097161	0.39971	T	-0.487841	0.00668	T	-0.467976	0.25735	T	0.0575124000905681	0.06771	T	.	.	.	0.17884576	0.38926	0.091350354	0.21473	0.17884576	0.38926	0.091350354	0.21473	-6.66	0.51508	T	.	.	0.175	0.38227	B	.	.	2.426817	0.31214	18.67	0.99383089065726871	0.61979	0.28214	0.23492	N	AEFDBCI	0.158577	0.28425	N	-0.229335003188708	0.31936	1.795754	-0.361278780663449	0.26162	1.443272	0.998224208389481	0.36603	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	4.32	2.03	0.25714	1.882000	0.39283	.	.	0.489000	0.22316	0.930000	0.32276	0.737000	0.26456	0.007000	0.07825	0.0:0.7073:0.0:0.2927	8.641	0.33140	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	1	0	0	0	0	0	0	0.004373	0.000000	0.000000	0.008000	0.055556	0.013889	0.008197	0.000000	0.08333	178.27	18	chr8	143727792	.	C	A	178.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.165;DP=115;ExcessHet=0;FS=2.128;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.91;ReadPosRankSum=-0.833;SOR=1.402	GT:AD:DP:GQ:PL	0/1:13,7:20:99:188,0,351	5	0	1	1
chr8	144103611	144103611	G	C	exonic	SHARPIN	.	nonsynonymous SNV	SHARPIN:NM_030974:exon1:c.C143G:p.A48G	.	395	1121	6	0	0	6	0.00266904	.	.	.	2828664	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.185	0.2335277241	0.0016	0.000599042	0.0030	0	0.0083	0	0	0.0015	0	0.0037	0.0017011	263	154602	rs200972856	0.0066	0.0063	0.0068	0.0065	0.0074	0.0065	0.0064	0.0073	0.0072	0.0013	0.0059	0.0002	2.817e-05	0.0055	0.0007	0.0074	0.0064	0.0038	0.0041	0.0042	0.0041	0.0042	0.0064	0.0039	0.0038	0.0059	0.0057	0.0011	0.0033	0.0048	0	0	0.0042	0	0.0064	0.0061	0.0029	0.167	0.23095	T	0.037	0.51737	D	0.009	0.15093	B	0.001	0.04355	B	0.000145	0.49130	D	0.138765	0.736265	0.29780	N	2.48	0.72069	M	-2.05	0.85799	D	-1.95	0.45222	N	0.066	0.03841	-0.5753	0.65804	T	0.398	0.75045	T	10	0.005203724	0.00113	T	0.233528	0.88370	D	0.185	0.45933	.	.	0.688869075859	0.68620	0.4949850987767383	0.49419	0.165330610218	0.18651	0.820401191711	0.85088	D	0.182042	0.53392	T	-0.446718	0.01181	T	-0.408765	0.32368	T	0.0144275588540469	0.00291	T	0.539746	0.18256	T	0.29638177	0.52578	0.2540192	0.51060	0.29638177	0.52578	0.2540192	0.51059	-4.063	0.24743	T	.	.	0.163	0.36053	B	.	.	2.296976	0.29387	18.11	0.94084257808759719	0.24236	0.70388	0.34570	D	ALL	0.352137	0.44501	N	-0.643009291219837	0.17663	0.9108845	-0.57213109879121	0.20220	1.088446	0.999999999999962	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	4.55	2.75	0.31439	1.083000	0.30427	3.142000	0.36487	-0.120000	0.14102	0.032000	0.20554	0.862000	0.27499	0.708000	0.34389	0.0905:0.1605:0.749:0.0	8.041	0.29684	970	0.06235	Sharpin, PH 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	0.001203	0.000000	0.000000	0.003448	0.000000	0.010870	0.003676	0.008850	0.07143	599.83	19	chr8	144103611	.	G	C	599.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.406;DP=168;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=16.66;ReadPosRankSum=-2.161;SOR=0.542	GT:AD:DP:GQ:PL	0/1:13,23:36:99:610,0,477	6	0	1	0
chr8	144512247	144512247	C	T	exonic	RECQL4	.	nonsynonymous SNV	RECQL4:NM_004260:exon18:c.G3133A:p.A1045T	Baller-Gerold syndrome, Autosomal recessive;RAPADILINO syndrome, Autosomal recessive;Rothmund-Thomson syndrome, Autosomal recessive	0	1519	3	0	0	3	0.000986518	.	.	YES	138887	Baller-Gerold_syndrome|Rapadilino_syndrome|not_provided|RECQL4-related_disorder|not_specified|Rothmund-Thomson_syndrome_type_2	MONDO:MONDO:0009039,MedGen:C0265308,OMIM:218600,Orphanet:1225|MONDO:MONDO:0009955,MedGen:C1849453,OMIM:266280,Orphanet:3021|MedGen:C3661900|.|MedGen:CN169374|MONDO:MONDO:0016369,MedGen:C5203410,OMIM:268400,Orphanet:221016	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0030	0.00399361	0.0012	0.0112	0.0007	0.0020	0	0.0002	0	6.074e-05	0.001216	188	154602	rs35348691	0.0005	0.0005	0.0005	0.0005	0.0106	0.0005	0.0004	0.0097	0.0094	0.0106	0.0014	0.0010	0.0010	0	0.0026	9.894e-05	0.0015	0.0001	0.0036	0.0036	0.0038	0.0035	0.0117	0.0034	0.0033	0.0109	0.0105	0.0117	0	0.0029	0.0012	0.0008	0	0	5.881e-05	0.0043	0.0002	.	.	.	0.52	0.38160	T	0.89	0.48942	P	0.261	0.39516	B	.	.	.	.	.	.	.	2.635	0.77114	M	.	.	.	.	.	.	0.097	0.12484	.	.	.	.	.	.	.	0.0045722723	0.00095	T	.	.	.	.	.	.	.	0.689604367157	0.68694	0.11929209556668262	0.11856	.	.	0.337042570114	0.15994	T	0.011554	0.25615	T	-0.371329	0.03527	T	-0.298203	0.44915	T	.	.	.	0.849515	0.53247	T	0.025144268	0.01419	0.0876284	0.20381	0.03714392	0.04707	0.08291603	0.18961	-4.918	0.35937	T	0.29070564616817923	0.38721	0.083	0.11510	B	.;.;.	.;.;.	1.006230	0.13851	10.40	0.72434867363369804	0.09972	0.46003	0.27663	N	AEFGBCI	0.118593	0.23183	N	.	.	.	.	.	.	0.99999935194341	0.74766	0.295142	0.05270	0	0.278934	0.05175	0	0.299256	0.05649	0	0.322829	0.05601	0	.	.	5.37	2.4	0.28568	0.075000	0.14547	0.862000	0.22237	-0.223000	0.07921	0.000000	0.06391	0.276000	0.24078	0.002000	0.04165	0.1635:0.52:0.3165:0.0	8.599	0.32896	900	0.24599	.;.;.	.	.	.	.	.	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	0.003528	0.000000	0.010899	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	3188.45	38	chr8	144512247	.	C	T	3188.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.396;DP=611;ExcessHet=0;FS=2.98;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.98;ReadPosRankSum=0.648;SOR=0.545	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:97,131:228:99:0|1:144512247_C_T:3199,0,2154:144512247	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	0|1:0,9:15:99:1|0:117366_C_CCG:598,224,209:117366	4	1	1	1
chr9	894044	894044	A	G	exonic	DMRT1	.	nonsynonymous SNV	DMRT1:NM_001363767:exon3:c.A197G:p.N66S,DMRT1:NM_021951:exon3:c.A671G:p.N224S	.	0	1493	29	0	0	29	0.00961857	.	.	.	244090	Non-obstructive_azoospermia|not_provided	Human_Phenotype_Ontology:HP:0011961,MedGen:C4021107|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.229	.	0.0016	0.00239617	0.0026	0.0002	0.0012	0.0001	0.0011	0.0015	0.0033	0.0109	0.002348	363	154602	rs140506267	0.0018	0.0018	0.0014	0.0022	0.0124	0.0017	0.0017	0.0118	0.0116	0.0001	0.0013	0.0047	5.038e-05	0.0016	0.0061	0.0010	0.0023	0.0124	0.0015	0.0015	0.0013	0.0017	0.0122	0.0013	0.0013	0.0097	0.0088	0.0003	0	0.0019	0.0075	0.0004	0.0014	0.0068	0.0011	0.0028	0.0122	0.001	0.78490	D	0.022	0.69154	D	0.979	0.59044	D	0.679	0.53442	P	0.000000	0.84330	D	0.000000	0.999518	0.47363	D	3.135	0.88152	M	1.84	0.43672	T	-3.78	0.75695	D	0.744	0.89020	-0.7551	0.57668	T	0.176	0.52115	T	10	0.01156497	0.00252	T	.	.	.	0.229	0.52916	.	.	0.587613165634	0.58436	0.33559741074806654	0.33472	0.638416995762	0.57562	0.658247947693	0.61158	T	0.610971	0.87670	D	-0.418298	0.01754	T	-0.363245	0.37677	T	0.0462759055615867	0.04833	T	0.936706	0.76258	D	0.5308503	0.68879	0.56086373	0.74592	0.5545526	0.70210	0.46176293	0.68746	-2.131	0.03719	T	0.2878324403040833	0.38403	0.126	0.37140	B	.;.	.;.	4.233463	0.64133	24.7	0.99889984710269808	0.96436	0.94620	0.61762	D	ALL	0.719920	0.67065	D	0.686505212860892	0.78749	6.934564	0.646738016627212	0.78370	6.862212	0.999999999985881	0.74766	0.520426	0.21595	0	0.573149	0.20659	1	0.440839	0.06518	1	0.636	0.56748	0	.	.	5.92	4.78	0.60666	6.663000	0.74276	9.343000	0.80233	0.733000	0.85838	1.000000	0.71638	1.000000	0.68203	0.946000	0.48989	0.9324:0.0:0.0676:0.0	11.922	0.52081	940	0.13648	.;.	.	.	.	.	.	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	0.007049	0.000000	0.005435	0.008772	0.000000	0.008621	0.006098	0.007576	0.07143	1987.53	34	chr9	894044	.	A	G	1987.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.755;DP=393;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.05;ReadPosRankSum=0.929;SOR=0.673	GT:AD:DP:GQ:PL	0/1:84,81:165:99:1998,0,2183	6	0	1	0
chr9	1057250	1057250	G	T	exonic	DMRT2	.	nonsynonymous SNV	DMRT2:NM_001370532:exon3:c.G1141T:p.A381S,DMRT2:NM_181872:exon4:c.G1663T:p.A555S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.00617457212795	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.34800	T	0.193	0.28210	T	0.441	0.35913	B	0.056	0.26147	B	0.002765	0.35968	N	0.265707	0.870723	0.81001	D	0.975	0.24501	L	1.74	0.26301	T	-0.24	0.10833	N	0.273	0.31140	-1.0539	0.13332	T	0.037	0.15770	T	10	0.15750635	0.29640	T	0.006175	0.16170	T	0.062	0.17934	0.177	0.08379	0.273938319068	0.27005	0.052753238788938873	0.05217	0.0177981594944	0.01746	0.477869033813	0.35764	T	0.083539	0.37078	T	-0.126483	0.32067	T	-0.419461	0.31137	T	0.486542445415382	0.32137	T	0.80242	0.44873	T	0.060081664	0.12286	0.085127935	0.19634	0.060081664	0.12285	0.085127935	0.19633	-2.596	0.06473	T	.	.	0.089	0.19720	B	.;.;.	.;.;.	3.793391	0.54616	23.5	0.98765693963105261	0.45893	0.94527	0.61454	D	AEFBI	0.587395	0.58506	D	0.0904854481886065	0.46019	2.848932	0.283093549421486	0.54551	3.619846	0.988889190999646	0.31658	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.94	5.94	0.96165	3.019000	0.49318	10.015000	0.83111	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.1455:0.0:0.8545:0.0	10.411	0.43476	872	0.31118	.;.;.	.	.	.	.	.	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	1360.44	39	chr9	1057250	.	G	T	1360.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.668;DP=366;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.43;ReadPosRankSum=1.54;SOR=0.667	GT:AD:DP:GQ:PL	0/1:60,59:119:99:1371,0,1419	6	0	1	0
chr9	5832840	5832840	C	T	exonic	ERMP1	.	nonsynonymous SNV	ERMP1:NM_024896:exon1:c.G188A:p.G63D	.	435	1038	47	2	0	51	0.0239774	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	.	.	0.00439297	0.0159	0	0.0396	0	0.0526	0.0191	0.0172	0.0143	0.0043466	672	154602	rs62638713	0.0093	0.0090	0.0092	0.0094	0.0254	0.0092	0.0091	0.0217	0.0204	0.0016	0.0054	0.0009	3.25e-05	0.0047	0.0254	0.0100	0.0079	0.0121	0.0059	0.0059	0.0062	0.0056	0.0106	0.0056	0.0054	0.0089	0.0087	0.0017	0	0.0043	0.0014	0	0.0036	0.0171	0.0095	0.0066	0.0106	0.266	0.16251	T	0.69	0.05920	T	0.019	0.17989	B	0.01	0.14941	B	0.142589	0.18239	N	0.458821	0.999983	0.18198	N	0	0.06538	N	0.98	0.42122	T	-0.03	0.07444	N	0.183	0.19861	-1.0601	0.11731	T	0.019	0.07800	T	10	0.004243642	0.00085	T	.	.	.	0.021	0.04004	.	.	0.152612264143	0.14878	0.5784803817705325	0.57777	1.05125465116	0.76159	0.825586915016	0.85886	D	0.013723	0.11817	T	-0.604661	0.00136	T	-0.630299	0.10392	T	0.0105604246406136	0.00147	T	0.342666	0.07446	T	0.032854058	0.03392	0.061487466	0.11881	0.032854058	0.03391	0.061487466	0.11881	-5.847	0.44982	T	.	.	0.124	0.26106	B	.	.	1.773328	0.22548	15.67	0.98681839479498568	0.44624	0.40144	0.26371	N	ALL	0.041827	0.06411	N	-1.09074595480116	0.06812	0.314695	-1.08348989215683	0.08025	0.3928126	0.999999995902894	0.74766	0.652421	0.48094	0	0.52208	0.09955	0	0.519653	0.09787	0	0.71	0.69187	0	.	.	3.39	-1.32	0.08721	-0.520000	0.06338	.	.	-0.375000	0.05424	0.719000	0.28811	0.000000	0.08366	0.007000	0.07825	0.2528:0.2195:0.4238:0.1039	2.659	0.04714	516	0.74704	.	.	.	.	.	.	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	0.019027	0.000000	0.014577	0.039877	0.050000	0.034483	0.019355	0.000000	0.07143	888.49	34	chr9	5832840	.	C	T	888.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.343;DP=234;ExcessHet=0;FS=1.17;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=18.51;ReadPosRankSum=-0.79;SOR=0.525	GT:AD:DP:GQ:PL	0/1:15,33:48:99:899,0,379	6	0	1	0
chr9	12775862	12775862	-	GGTGGCGGCGGC	exonic	LURAP1L	.	nonframeshift insertion	LURAP1L:NM_203403:exon1:c.147_148insGGTGGCGGCGGC:p.G55_C56insGGGG	.	365	134	262	599	162	1622	0.844907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs139315731	7.348e-05	0.0001	7.28e-05	7.418e-05	0.0002	6.137e-05	5.721e-05	9.444e-05	7.483e-05	0.0002	5.748e-05	0	0.0001	0	0	6.421e-05	0.0001	0.0002	5.985e-05	6.57e-05	5.192e-05	6.818e-05	0.0002	3.111e-05	2.234e-05	3.282e-05	1.937e-05	9.793e-05	0	6.623e-05	0	0	0	0	4.44e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	11996.6	37	chr9	12775862	.	T	TGGTGGCGGCGGC	11996.6	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.877;DP=426;ExcessHet=0;FS=5.029;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=27.97;ReadPosRankSum=0.032;SOR=0.345	GT:AD:DP:GQ:PL	0/1:0,35:72:99:3140,1514,1508	6	0	1	0
chr9	35733405	35733405	A	G	exonic	CREB3	.	nonsynonymous SNV	CREB3:NM_006368:exon4:c.A355G:p.R119G	.	431	1053	36	2	0	40	0.0186393	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.129	.	0.0038	0.00439297	0.0065	0.0010	0.0034	0.0001	0.0132	0.0069	0.0088	0.0111	0.0063389	980	154602	rs11538707	0.0056	0.0056	0.0054	0.0058	0.0116	0.0055	0.0054	0.0103	0.0100	0.0007	0.0027	0.0061	7.557e-05	0.0134	0.0116	0.0052	0.0050	0.0108	0.0041	0.0041	0.0037	0.0046	0.0116	0.0038	0.0037	0.0092	0.0083	0.0009	0	0.0031	0.0035	0	0.0120	0.0068	0.0050	0.0024	0.0116	0.006	0.61437	D	0.168	0.30631	T	.	.	.	.	.	.	0.035232	0.01799	N	1.977850	1	0.08975	N	.	.	.	-1.01	0.76168	T	-2.14	0.48523	N	0.266	0.30118	-0.8323	0.53152	T	0.257	0.62766	T	10	0.007941008	0.00180	T	.	.	.	0.129	0.35316	.	.	0.48447252604	0.48079	0.10674431455268113	0.10604	0.169132673809	0.19067	0.278317034245	0.07259	T	.	.	.	-0.494845	0.00611	T	-0.474192	0.25065	T	0.0265326855937384	0.01479	T	0.545645	0.18668	T	0.18463843	0.39789	0.27675217	0.53622	0.18463843	0.39788	0.27675217	0.53621	-2.862	0.08769	T	.	.	0.100	0.17232	B	.	.	0.877539	0.12505	9.037	0.89253841185197447	0.18639	0.04782	0.10496	N	ALL	0.126382	0.24329	N	-0.941354268813209	0.09888	0.4700162	-1.01968557970873	0.09353	0.4648129	0.999999997267324	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.504199	0.09095	0	0.56214	0.19341	0	.	.	4.79	-1.43	0.08418	0.052000	0.14046	1.933000	0.29783	0.691000	0.84096	0.000000	0.06391	0.293000	0.24176	0.017000	0.10941	0.3462:0.2055:0.4483:0.0	6.497	0.21345	107	0.95615	.	.	.	.	.	.	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	0.007553	0.000000	0.010870	0.002924	0.000000	0.000000	0.015244	0.011364	0.07143	2083.49	33	chr9	35733405	.	A	G	2083.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.02;DP=341;ExcessHet=0;FS=0.6;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.36;ReadPosRankSum=-1.002;SOR=0.617	GT:AD:DP:GQ:PL	0/1:75,81:156:99:2094,0,1773	6	0	1	0
chr9	85996522	85996522	A	G	exonic	NAA35	.	nonsynonymous SNV	NAA35:NM_001321881:exon12:c.A1001G:p.D334G,NAA35:NM_001321882:exon12:c.A1001G:p.D334G,NAA35:NM_024635:exon12:c.A1001G:p.D334G	.	443	1062	16	1	0	18	0.00840336	.	.	.	2130741	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.266	0.00412813974648	.	0.000399361	0.0004	0	0.0009	0	0	0.0003	0.0011	0.0015	0.0003816	59	154602	rs200918536	0.0003	0.0003	0.0003	0.0004	0.0040	0.0003	0.0003	0.0026	0.0022	3.042e-05	0.0006	0	0	1.875e-05	0.0040	0.0002	0.0005	0.0019	0.0003	0.0003	0.0002	0.0004	0.0017	0.0002	0.0002	0.0008	0.0006	4.81e-05	0	0.0003	0	0	0	0	0.0004	0.0005	0.0017	0.27	0.16038	T	0.361	0.16914	T	0.0	0.02946	B	0.0	0.01387	B	0.001139	0.40136	N	0.245457	1	0.81001	D	-0.345	0.03330	N	.	.	.	-0.6	0.17834	N	0.44	0.47857	-1.0384	0.17802	T	0.099	0.36907	T	9	0.023888618	0.00639	T	0.004128	0.09900	T	0.266	0.57999	.	.	0.082315109003	0.07666	0.42526214472349183	0.42443	1.04861098365	0.76057	0.693011164665	0.66139	T	0.024197	0.18330	T	-0.289026	0.09733	T	-0.194727	0.55145	T	0.0831616594071622	0.10386	T	0.905509	0.66687	D	0.14046368	0.32407	0.11157277	0.26916	0.14046368	0.32407	0.11157277	0.26915	-3.572	0.17453	T	.	.	0.102	0.17995	B	.	.	3.425352	0.47581	22.5	0.9695499192940833	0.31755	0.99610	0.97961	D	AEFBI	0.838615	0.75611	D	-0.120451476218317	0.36504	2.110838	0.124009134127922	0.45779	2.83513	0.999999833471584	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.65145	0.50148	0	0.727631	0.95156	0	.	.	5.18	5.18	0.71140	8.655000	0.90848	11.296000	0.92177	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	15.325	0.73867	889	0.27310	.	.	.	.	.	.	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	0.001511	0.000000	0.004076	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	684.49	33	chr9	85996522	.	A	G	684.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.821;DP=208;ExcessHet=0;FS=2.621;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.56;ReadPosRankSum=2.2;SOR=0.595	GT:AD:DP:GQ:PL	0/1:17,30:47:99:695,0,361	6	0	1	0
chr9	87887143	87887143	G	C	exonic	SPATA31E1	.	nonsynonymous SNV	SPATA31E1:NM_178828:exon4:c.G2656C:p.E886Q	.	406	1114	2	0	0	2	0.000896861	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	.	0.0004	0.00638978	0.0034	0.0006	0.0024	0.0401	0.0008	0.0002	0	0.0010	0.003467	536	154602	rs75241638	0.0015	0.0015	0.0015	0.0015	0.0413	0.0015	0.0015	0.0396	0.0390	0.0003	0.0051	3.826e-05	0.0413	0.0004	0.0005	0.0001	0.0026	0.0008	0.0029	0.0029	0.0024	0.0034	0.0368	0.0027	0.0026	0.0325	0.0308	0.0006	0	0.0118	0	0.0368	0.0007	0	0.0003	0.0043	0.0008	0.404	0.10345	T	0.062	0.45318	T	0.012	0.16265	B	0.02	0.19048	B	0.013658	0.01370	N	2.637330	1	0.08975	N	0.755	0.19153	N	3.79	0.03809	T	-0.55	0.16799	N	0.073	0.04668	-0.9676	0.37693	T	0.004	0.01226	T	10	0.002927065	0.00047	T	.	.	.	0.016	0.02506	.	.	0.0297737177859	0.01360	0.05062613726366736	0.05005	0.0105857679638	0.00974	0.475144505501	0.35390	T	0.002238	0.01633	T	-0.749964	0.00018	T	-0.818631	0.01480	T	0.00297071010429172	0.00031	T	0.278472	0.04815	T	0.044434212	0.07103	0.024509756	0.00472	0.044434212	0.07103	0.024509756	0.00472	-4.205	0.26824	T	.	.	0.135	0.29283	B	.	.	-0.632853	0.01484	0.092	0.37954857355563276	0.02532	0.00088	0.00587	N	AEFDBI	0.023228	0.01266	N	-1.66396091333709	0.00978	0.04236766	-1.79004616320647	0.00792	0.0353185	0.998925874976387	0.37985	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	2.57	-5.15	0.02648	-1.538000	0.02308	-14.030000	0.00425	-0.782000	0.03316	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2256:0.1655:0.3619:0.247	0.423	0.00428	957	0.09725	.	.	.	.	.	.	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	1211.49	36	chr9	87887143	.	G	C	1211.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.033;DP=299;ExcessHet=0;FS=1.565;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.22;ReadPosRankSum=-0.616;SOR=0.893	GT:AD:DP:GQ:PL	0/1:57,51:108:99:1222,0,1375	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	0/1:226,163:406:99:1055,0,3516	0	0	7	0
chr9	98092001	98092001	C	T	exonic	TRIM14	.	nonsynonymous SNV	TRIM14:NM_014788:exon5:c.G701A:p.S234N,TRIM14:NM_033219:exon5:c.G701A:p.S234N	.	429	1083	10	0	0	10	0.00459559	0.0006	0.072	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	.	0.0022	0.000798722	0.0019	0.0006	0.0018	0	0.0005	0.0028	0.0022	0.0004	0.0019211	297	154602	rs145652674	0.0021	0.0021	0.0021	0.0021	0.0054	0.0020	0.0020	0.0039	0.0034	0.0007	0.0021	0.0047	0	0.0006	0.0054	0.0023	0.0020	0.0004	0.0016	0.0016	0.0018	0.0013	0.0024	0.0014	0.0013	0.0021	0.0020	0.0003	0	0.0022	0.0055	0	0.0005	0.0034	0.0024	0.0024	0.0002	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.010259	0.30003	N	0.316812	0.999996	0.18878	N	-1.585	0.00443	N	0.44	0.56609	T	0.24	0.04533	N	0.083	0.05929	-0.9733	0.36496	T	0.038	0.16246	T	10	0.0024508536	0.00037	T	0.023055	0.45999	T	0.024	0.04979	.	.	0.289847578895	0.28608	0.13717067156349963	0.13641	0.528776796748	0.50442	0.314618349075	0.12605	T	0.006868	0.06296	T	-0.603609	0.00139	T	-0.639827	0.09681	T	0.00155266437676753	0.00016	T	0.433957	0.11861	T	0.02810114	0.02097	0.04581857	0.06249	0.02810114	0.02097	0.04581857	0.06249	-3.316	0.13945	T	.	.	0.067	0.03060	B	.;.;.	.;.;.	0.902060	0.12763	9.279	0.75383439616410053	0.11054	0.00283	0.01525	N	AEFDGBIJ	0.063958	0.12392	N	-1.25933874716016	0.04178	0.1880742	-1.10523469601934	0.07599	0.3702889	0.99998810461178	0.51787	0.706298	0.61202	0	0.724815	0.89359	0	0.601644	0.32324	0	0.613276	0.41899	0	.	.	5.01	1.11	0.19640	1.153000	0.31287	1.326000	0.25636	-0.167000	0.11441	0.889000	0.31176	0.945000	0.28875	0.759000	0.36109	0.0:0.2824:0.0:0.7176	6.776	0.22804	683	0.59664	.;.;.	.	.	.	.	.	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	0.020202	0.005435	0.005848	0.000000	0.000000	0.003049	0.000000	0.08333	785.27	33	chr9	98092001	.	C	T	785.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.463;DP=220;ExcessHet=0;FS=2.13;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.9;ReadPosRankSum=-1.392;SOR=1.121	GT:AD:DP:GQ:PL	0/1:33,33:66:99:795,0,846	5	0	1	1
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	0/1:101,30:131:32:32,0,1744	4	0	3	0
chr9	100442207	100442207	G	A	exonic	MSANTD3;MSANTD3-TMEFF1	.	nonsynonymous SNV	MSANTD3-TMEFF1:NM_001198812:exon1:c.G269A:p.R90K,MSANTD3:NM_001198805:exon2:c.G269A:p.R90K,MSANTD3:NM_001198806:exon2:c.G269A:p.R90K,MSANTD3:NM_001198807:exon2:c.G269A:p.R90K,MSANTD3:NM_080655:exon2:c.G269A:p.R90K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.151	0.00611623825291	.	.	.	.	.	.	.	.	.	.	.	.	.	rs887867357	5.473e-05	5.472e-05	6.398e-05	4.538e-05	7.014e-05	4.477e-05	4.147e-05	5.71e-05	5.28e-05	0	0	0	0	0	0	7.014e-05	1.656e-05	1.159e-05	2.631e-05	2.627e-05	2.571e-05	2.692e-05	5.881e-05	8.15e-06	5.14e-06	1.972e-05	1.125e-05	0	0	0	0	0	0	0	5.881e-05	0	0	0.035	0.43708	D	0.0	0.92824	D	0.956	0.54666	P	0.899	0.63802	P	.	.	.	.	0.564341	0.32240	D	0.895	0.22405	L	.	.	.	-0.82	0.27876	N	0.477	0.51226	-0.6245	0.63802	T	0.222	0.58498	T	8	0.31768113	0.49176	T	0.006116	0.15993	T	0.151	0.39764	0.475	0.55182	0.259761712551	0.25597	0.7697746890755183	0.76926	1.3389385424	0.83804	0.849319815636	0.89511	D	0.180021	0.53122	T	0.0898806	0.63177	D	-0.0931832	0.63920	T	0.740648984909058	0.42772	D	0.881612	0.60904	D	0.19164935	0.40801	0.2405909	0.49437	0.19164935	0.40801	0.2405909	0.49436	-3.715	0.22333	T	.	.	0.352	0.76201	A	.;.;.;.;.;.	.;.;.;.;.;.	4.705657	0.75548	26.4	0.99690172554301759	0.79909	0.96078	0.67433	D	AEFDBHIJ	0.832475	0.75084	D	0.499267143420186	0.67048	5.029901	0.537054017540039	0.70500	5.514668	0.999999921675007	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.779548	0.98927	0	0.714379	0.83352	0	.	.	5.92	5.01	0.66477	6.681000	0.74356	9.815000	0.81770	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.8596:0.1404	15.365	0.74231	312	0.87382	.;.;.;.;.;.	.	.	.	.	.	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	284.75	34	chr9	100442207	.	G	A	284.75	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-3.191;DP=315;ExcessHet=0.3476;FS=194.488;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=1.99;ReadPosRankSum=1.98;SOR=7.111	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:55,13:68:94:0|1:100442207_G_A:94,0,1949:100442207	4	0	2	1
chr9	106974250	106974250	T	C	exonic	ZNF462	.	nonsynonymous SNV	ZNF462:NM_001347997:exon9:c.T4214C:p.I1405T,ZNF462:NM_021224:exon9:c.T6809C:p.I2270T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.332	0.0225480179474	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.29554	T	0.0	0.92824	D	0.998	0.73220	D	0.987	0.77487	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.575	0.39704	L	3.38	0.05778	T	-0.68	0.36980	N	0.873	0.87049	-1.0740	0.08556	T	0.061	0.25455	T	10	0.3783521	0.54005	T	0.022548	0.45449	T	0.332	0.65424	0.419	0.46036	0.043077524339	0.03247	0.5838881706070325	0.58317	2.02329959298	0.94019	0.924512147903	0.98647	D	0.011805	0.11071	T	0.105501	0.64882	D	-0.0862318	0.64445	T	0.798904538154602	0.46279	D	0.963604	0.86445	D	0.1377539	0.31884	0.16932428	0.38958	0.1377539	0.31884	0.16932428	0.38957	-11.857	0.84147	D	.	.	0.989	0.94382	P	.;.;.	.;.;.	4.830708	0.78774	27.0	0.99799257148110543	0.88461	0.98380	0.82188	D	AEFBI	0.909931	0.86721	D	0.462121070414506	0.64895	4.754563	0.527672054984196	0.69859	5.42084	0.999999998491949	0.74766	0.67177	0.52595	0	0.546412	0.12157	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.66	5.66	0.87293	7.645000	0.82580	6.207000	0.54965	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.0:0.0:1.0	15.905	0.79209	677	0.60274	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	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	647.45	71	chr9	106974250	.	T	C	647.45	.	AC=5;AF=0.5;AN=10;BaseQRankSum=-3.424;DP=793;ExcessHet=6.1542;FS=213.033;MLEAC=6;MLEAF=0.6;MQ=60;MQRankSum=0;QD=0.87;ReadPosRankSum=2.55;SOR=10.397	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:143,54:197:91:0|1:106974250_T_C:91,0,4337:106974250	0	0	5	2
chr9	106974252	106974252	G	A	exonic	ZNF462	.	nonsynonymous SNV	ZNF462:NM_001347997:exon9:c.G4216A:p.D1406N,ZNF462:NM_021224:exon9:c.G6811A:p.D2271N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.240	0.0408367045235	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.45039	D	0.0	0.92824	D	1.0	0.90584	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.9	0.50570	L	3.42	0.05507	T	-1.1	0.35991	N	0.785	0.79503	-1.1146	0.02703	T	0.065	0.26772	T	10	0.41275227	0.56336	T	0.040837	0.59597	D	0.240	0.54500	0.441	0.49648	0.138757226776	0.13463	0.7163974984860814	0.71582	1.77884305262	0.91374	0.91669100523	0.98061	D	0.018486	0.14891	T	-0.186331	0.22798	T	-0.505428	0.21785	T	0.864430676400788	0.51459	D	0.975002	0.91107	D	0.1619377	0.36236	0.1629017	0.37816	0.1619377	0.36236	0.1629017	0.37816	-10.165	0.76340	D	.	.	0.990	0.93507	P	.;.;.	.;.;.	5.368506	0.90010	31	0.99920868308788402	0.98721	0.99180	0.92409	D	AEFBI	0.912600	0.87345	D	0.658390178150991	0.76912	6.574868	0.70769665526324	0.82963	7.898997	0.999999999998965	0.74766	0.67177	0.52595	0	0.546412	0.12157	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.66	5.66	0.87293	9.564000	0.97283	11.869000	0.98523	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:0.0:1.0:0.0	19.759	0.96302	677	0.60274	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	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	1936.53	71	chr9	106974252	.	G	A	1936.53	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-4.743;DP=654;ExcessHet=1.383;FS=265.935;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=4.14;ReadPosRankSum=2.19;SOR=9.981	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:121,67:188:99:0|1:106974250_T_C:1043,0,3328:106974250	3	0	3	1
chr9	110137052	110137052	G	C	exonic	PALM2AKAP2	.	nonsynonymous SNV	PALM2AKAP2:NM_001004065:exon2:c.G1082C:p.R361T,PALM2AKAP2:NM_001136562:exon2:c.G815C:p.R272T,PALM2AKAP2:NM_001198656:exon2:c.G1082C:p.R361T,PALM2AKAP2:NM_007203:exon8:c.G1508C:p.R503T,PALM2AKAP2:NM_147150:exon8:c.G1508C:p.R503T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.0618637391386	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.424e-06	0.0004	4.089e-06	2.753e-06	3.602e-06	1e-06	7.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.602e-06	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.024	0.57104	D	0.949	0.65571	P	0.496	0.73820	P	0.002376	0.36688	N	0.265487	0.528475	0.31955	D	2.125	0.59049	M	0.88	0.46028	T	-1.48	0.56144	N	0.354	0.44857	-0.5485	0.66844	T	0.199	0.55442	T	10	0.25693607	0.43103	T	0.061864	0.68469	D	0.118	0.32913	0.194	0.10571	0.52468985305	0.52114	0.3132723605175298	0.31240	0.508839714498	0.49031	0.421055316925	0.27981	T	0.068456	0.33461	T	-0.00465218	0.51011	T	-0.244459	0.50362	T	0.82229095697403	0.47942	D	0.916508	0.71628	D	0.14253841	0.32799	0.105709225	0.25417	0.14253841	0.32798	0.105709225	0.25416	-6.736	0.54231	T	.	.	0.488	0.66996	A	.;.;.;.;.;.	.;.;.;.;.;.	3.479942	0.48587	22.6	0.93161729188529674	0.22814	0.93481	0.58334	D	AEFBCIJ	0.371545	0.45752	N	0.194427995474043	0.50931	3.278602	0.1677655242984	0.48093	3.029822	0.999992215884336	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.80507	0.99327	0	0.711	0.71501	0	.	.	5.63	4.73	0.59485	3.590000	0.53726	5.886000	0.50702	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.013000	0.09966	0.1723:0.0:0.8277:0.0	8.596	0.32880	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	.	.	.	.	.	.	.	.	0.25	623.16	28	chr9	110137052	.	G	C	623.16	.	AC=2;AF=0.25;AN=8;BaseQRankSum=-0.079;DP=278;ExcessHet=0.4139;FS=138.611;MLEAC=3;MLEAF=0.375;MQ=60;MQRankSum=0;QD=4.52;ReadPosRankSum=2.2;SOR=7.327	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:55,17:72:99:0|1:110137052_G_C:261,0,1918:110137052	2	0	2	3
chr9	110137054	110137054	G	A	exonic	PALM2AKAP2	.	nonsynonymous SNV	PALM2AKAP2:NM_001004065:exon2:c.G1084A:p.A362T,PALM2AKAP2:NM_001136562:exon2:c.G817A:p.A273T,PALM2AKAP2:NM_001198656:exon2:c.G1084A:p.A362T,PALM2AKAP2:NM_007203:exon8:c.G1510A:p.A504T,PALM2AKAP2:NM_147150:exon8:c.G1510A:p.A504T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.0262409829576	.	.	1.678e-05	0	0.0002	0	0	0	0	0	1.29e-05	2	154602	rs777202417	6.173e-06	6.157e-06	8.191e-06	4.136e-06	0.0002	2.91e-06	2.1e-06	0.0001	7.819e-05	0	0.0002	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.52492	D	0.084	0.42976	T	0.873	0.70673	P	0.461	0.78396	P	0.000361	0.45440	D	0.192211	0.554502	0.32161	D	1.95	0.52479	M	0.82	0.48142	T	-0.38	0.20145	N	0.196	0.26596	-0.6067	0.64540	T	0.231	0.59732	T	10	0.15551329	0.29309	T	0.026241	0.49161	D	0.058	0.16647	0.201	0.11522	0.606491963429	0.60334	0.1585652680794885	0.19118	0.413830099629	0.42075	0.353128492832	0.18382	T	0.05449	0.29740	T	-0.32145	0.06780	T	-0.414803	0.31673	T	0.136570181284112	0.15976	T	0.914109	0.69400	D	0.07271283	0.16195	0.093768194	0.22163	0.07271283	0.16195	0.093768194	0.22162	-5.913	0.46163	T	.	.	0.123	0.36653	B	.;.;.;.;.;.	.;.;.;.;.;.	3.350669	0.46210	22.3	0.99576051814353395	0.72682	0.77969	0.38401	D	AEFBCIJ	0.274752	0.38987	N	0.18937847889013	0.50690	3.256583	0.211920241110118	0.50507	3.242088	0.999998236571977	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.80507	0.99327	0	0.711	0.71501	0	.	.	5.42	4.46	0.53567	3.170000	0.50516	7.765000	0.68366	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.024000	0.12247	0.0:0.3075:0.6925:0.0	11.752	0.51121	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	.	.	.	.	.	.	.	.	0.2	518.8	28	chr9	110137054	.	G	A	518.8	.	AC=2;AF=0.2;AN=10;BaseQRankSum=-1.248;DP=291;ExcessHet=0.3476;FS=128.322;MLEAC=3;MLEAF=0.3;MQ=60;MQRankSum=0;QD=4.05;ReadPosRankSum=1.88;SOR=7.167	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:55,17:72:99:0|1:110137052_G_C:261,0,1918:110137052	3	0	2	2
chr9	114406373	114406373	C	G	exonic	WHRN	.	nonsynonymous SNV	WHRN:NM_001346890:exon5:c.G1165C:p.A389P,WHRN:NM_001083885:exon9:c.G1069C:p.A357P,WHRN:NM_001173425:exon9:c.G2218C:p.A740P,WHRN:NM_015404:exon9:c.G2218C:p.A740P	Deafness, autosomal recessive 31, Autosomal recessive;Usher syndrome, type 2D, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.00416941012184	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.426	0.11120	T	0.818	0.11968	T	0.019	0.17989	B	0.034	0.22546	B	0.000095	0.51296	D	0.131649	0.999967	0.52935	D	1.495	0.37439	L	4.14	0.06291	T	0.56	0.02680	N	0.058	0.06854	-0.9371	0.43072	T	0.013	0.04890	T	10	0.12661639	0.24072	T	0.004169	0.10026	T	0.056	0.15993	0.19	0.10039	0.222439326576	0.21863	0.2356190119927257	0.23476	0.162702542639	0.18360	0.486659765244	0.36976	T	0.043648	0.26569	T	-0.26956	0.11805	T	-0.624981	0.10798	T	0.589373826980591	0.35981	D	0.844815	0.56549	T	0.17356452	0.38112	0.3176821	0.57741	0.17356452	0.38111	0.3176821	0.57741	-3.45	0.15738	T	.	.	0.117	0.23640	B	.;.;.	.;.;.	2.684793	0.35034	19.79	0.83225243468858157	0.14610	0.68447	0.33805	D	AEFDBI	0.175621	0.30280	N	-0.308744411522723	0.28816	1.592539	-0.135753199447611	0.33960	1.948272	0.999999513023983	0.74766	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.586402	0.36253	0	.	.	5.29	4.33	0.51083	2.145000	0.41830	3.899000	0.40339	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.649000	0.32665	0.1259:0.6928:0.1814:0.0	10.526	0.44135	627	0.65350	.;.;.	.	.	.	.	.	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	320.44	101	chr9	114406373	.	C	G	320.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-3.687;DP=510;ExcessHet=0;FS=80.193;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=1.91;ReadPosRankSum=-0.531;SOR=6.736	GT:AD:DP:GQ:PL	0/1:149,19:169:99:331,0,5677	6	0	1	0
chr9	114406374	114406374	C	G	exonic	WHRN	.	nonsynonymous SNV	WHRN:NM_001346890:exon5:c.G1164C:p.R388S,WHRN:NM_001083885:exon9:c.G1068C:p.R356S,WHRN:NM_001173425:exon9:c.G2217C:p.R739S,WHRN:NM_015404:exon9:c.G2217C:p.R739S	Deafness, autosomal recessive 31, Autosomal recessive;Usher syndrome, type 2D, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.246	0.0237251287023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.249	0.34959	T	0.996	0.68779	D	0.956	0.69739	D	0.000003	0.62929	D	0.058524	0.999998	0.58761	D	2.485	0.72352	M	3.72	0.11082	T	-1.76	0.41618	N	0.794	0.79022	-1.1467	0.01127	T	0.071	0.28969	T	10	0.7061209	0.72749	D	0.023725	0.46702	T	0.246	0.55340	0.267	0.21418	0.465381546717	0.46164	0.546202977391294	0.54546	0.217767607061	0.24300	0.665198624134	0.62152	T	0.178877	0.52967	T	0.156707	0.69894	D	-0.0126771	0.69508	D	0.965095579624176	0.67160	D	0.918408	0.70674	D	0.43276304	0.62933	0.30041197	0.56075	0.43276304	0.62933	0.30041197	0.56074	-3.765	0.20655	T	.	.	0.861	0.82156	P	.;.;.	.;.;.	4.122777	0.61634	24.4	0.99728939135831174	0.82619	0.85209	0.44322	D	AEFDBI	0.404361	0.47768	N	0.490746823562894	0.66546	4.964436	0.418910173237003	0.62744	4.495032	0.999998553595518	0.74766	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.586402	0.36253	0	.	.	5.29	4.38	0.52019	0.480000	0.21954	1.068000	0.23780	0.599000	0.40250	0.996000	0.39380	1.000000	0.68203	0.662000	0.33024	0.0:0.8454:0.0:0.1546	9.668	0.39158	627	0.65350	.;.;.	.	.	.	.	.	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	525.18	104	chr9	114406374	.	C	G	525.18	.	AC=3;AF=0.3;AN=10;BaseQRankSum=-1.975;DP=914;ExcessHet=1.1394;FS=125.612;MLEAC=3;MLEAF=0.3;MQ=60;MQRankSum=0;QD=1.18;ReadPosRankSum=0.699;SOR=9.419	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:128,28:165:99:.:.:344,0,5595:.	2	0	3	2
chr9	114406375	114406375	C	G	exonic	WHRN	.	nonsynonymous SNV	WHRN:NM_001346890:exon5:c.G1163C:p.R388T,WHRN:NM_001083885:exon9:c.G1067C:p.R356T,WHRN:NM_001173425:exon9:c.G2216C:p.R739T,WHRN:NM_015404:exon9:c.G2216C:p.R739T	Deafness, autosomal recessive 31, Autosomal recessive;Usher syndrome, type 2D, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.328	0.0327677642762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.025	0.63918	D	1.0	0.90584	D	0.982	0.75477	D	0.000003	0.62929	D	0.058524	1	0.81001	D	2.485	0.72352	M	3.67	0.11947	T	-1.91	0.45042	N	0.816	0.81162	-1.0102	0.26854	T	0.111	0.39817	T	10	0.7625818	0.76459	D	0.032768	0.54504	D	0.328	0.65026	0.301	0.26843	0.629257994256	0.62622	0.515018125573271	0.51424	0.317085791368	0.33956	0.693475842476	0.66205	T	0.250673	0.62080	T	0.0954069	0.63792	D	-0.100731	0.63342	T	0.93917840719223	0.61041	D	0.923508	0.72088	D	0.42132396	0.62180	0.29035416	0.55058	0.42132396	0.62180	0.29035416	0.55057	-4.136	0.26316	T	.	.	0.663	0.73938	P	.;.;.	.;.;.	4.986942	0.82651	27.8	0.98226065711499799	0.39343	0.97842	0.77538	D	AEFDBI	0.694202	0.65328	D	0.672510807959941	0.77831	6.75116	0.61009073618077	0.75672	6.352084	0.999999999999999	0.74766	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.586402	0.36253	0	.	.	5.29	5.29	0.74430	5.501000	0.66665	7.602000	0.61596	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.667000	0.33166	0.0:1.0:0.0:0.0	18.935	0.92554	627	0.65350	.;.;.	.	.	.	.	.	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	255.09	59	chr9	114406375	.	C	G	255.09	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-4.267;DP=897;ExcessHet=0;FS=133.841;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=1.52;ReadPosRankSum=0.404;SOR=7.658	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:149,19:176:99:.:.:265,0,5709:.	6	0	1	0
chr9	114657732	114657732	C	A	exonic	TEX53	.	nonsynonymous SNV	TEX53:NM_001354645:exon1:c.G43T:p.G15W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs897180921	1.624e-05	9.542e-06	1.646e-05	1.602e-05	0.0001	4.8e-06	2.56e-06	.	.	0.0001	0.0001	0	0	0	0	0	0.0001	0	5.257e-05	5.253e-05	2.569e-05	8.071e-05	0.0002	2.557e-05	1.83e-05	9.565e-05	6.962e-05	0.0002	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075912416	0.11794	T	.	.	.	.	.	.	.	.	.	5.266594420147596E-4	0.00048	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.471053	0.13966	T	0.03700261	0.04660	0.060716268	0.11608	0.03700261	0.04660	0.060716268	0.11608	-5.814	0.44696	T	.	.	0.292	0.52318	B	.	.	1.099996	0.14844	11.37	0.62737420101655306	0.07040	0.01861	0.05745	N	AEFBI	.	.	.	.	.	.	.	.	.	0.994134288691189	0.33503	0.080785	0.02172	0	0.097471	0.02872	0	0.060301	0.00762	0	0.10565	0.03146	0	0.0708573	0.16690	3.43	-2.0	0.07024	-0.978000	0.03888	-0.697000	0.07812	-0.202000	0.08738	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.1877:0.3247:0.0:0.4876	3.477	0.07155	775	0.48401	.	.	.	.	.	.	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	36.79	4	chr9	114657732	.	C	A	36.79	.	AC=2;AF=0.2;AN=10;DP=11;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.2;MQ=60;QD=18.39;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	4	1	0	2
chr9	122615206	122615206	A	C	exonic	OR1Q1	.	nonsynonymous SNV	OR1Q1:NM_012364:exon1:c.A469C:p.M157L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.00137238940246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.031313	0.25186	N	0.193985	1	0.08975	N	-1.81	0.00285	N	9.13	0.00014	T	1.36	0.00878	N	0.069	0.04188	-0.9607	0.39050	T	0.000	0.00039	T	10	0.025236368	0.00724	T	0.001372	0.01986	T	0.024	0.04979	0.438	0.49157	0.218845423259	0.21516	0.0536235130828821	0.05304	0.12711569095	0.14323	0.19764688611	0.00392	T	0.001386	0.00849	T	-0.362761	0.03976	T	-0.758858	0.03153	T	0.0720846268240636	0.08941	T	0.519848	0.16911	T	0.08231871	0.18959	0.078095466	0.17460	0.08231871	0.18959	0.078095466	0.17460	-1.827	0.02591	T	.	.	0.073	0.04558	B	.	.	0.164493	0.05545	2.004	0.57708355791029742	0.05829	0.01431	0.04816	N	AEFGI	0.028668	0.02568	N	-1.54920529213411	0.01539	0.06723995	-1.42674266363112	0.02987	0.1384998	4.1549165222726E-4	0.06899	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.58	0.702	0.17269	-1.417000	0.02571	-0.644000	0.08062	-0.186000	0.09761	0.000000	0.06391	0.000000	0.08366	0.051000	0.15275	0.1299:0.5815:0.0:0.2886	5.416	0.15672	958	0.09170	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	.	.	.	.	.	.	.	.	0.07143	3092.44	89	chr9	122615206	.	A	C	3092.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.713;DP=856;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.03;ReadPosRankSum=-0.65;SOR=0.706	GT:AD:DP:GQ:PL	0/1:127,130:257:99:3103,0,3388	6	0	1	0
chr9	122629244	122629244	G	A	exonic	OR1B1	.	nonsynonymous SNV	OR1B1:NM_001004450:exon1:c.C292T:p.R98C	.	430	1082	4	0	6	10	0.00184502	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.00576401500878	.	.	9.068e-05	0	0.0002	0	0	4.498e-05	0	0.0004	7.12e-05	11	154602	rs140947515	9.44e-05	9.44e-05	7.623e-05	0.0001	0.0014	8.134e-05	7.65e-05	0.0007	0.0005	8.961e-05	0.0004	0	2.519e-05	0	0.0014	4.946e-05	0.0001	0.0005	0.0002	0.0002	0.0001	0.0002	0.0010	0.0001	9.248e-05	0.0007	0.0005	2.415e-05	0	0.0010	0	0	0	0	5.88e-05	0	0.0006	.	.	.	.	.	.	0.002	0.09854	B	0.003	0.08700	B	0.000770	0.41888	D	0.000000	1	0.08975	N	0.44	0.12706	N	.	.	.	.	.	.	.	.	-0.9428	0.42169	T	0.007	0.02518	T	10	0.044311166	0.03374	T	0.005764	0.14952	T	.	.	0.498	0.58835	.	.	0.230583275194321	0.22973	.	.	0.179950609803	0.00093	T	0.003297	0.02698	T	-0.518276	0.00450	T	-0.660278	0.08247	T	0.0260467574790921	0.01412	T	0.574842	0.20648	T	0.109451935	0.25876	0.08497214	0.19586	0.109451935	0.25876	0.08497214	0.19586	-4.557	0.31627	T	.	.	0.164	0.36113	B	.	.	1.213114	0.16064	12.29	0.91353405559376011	0.20616	0.07230	0.13254	N	AEFBI	0.116067	0.22795	N	-1.02892383216897	0.08007	0.3739591	-1.00342778519814	0.09710	0.4846445	2.65190922735659E-4	0.06244	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.3	2.4	0.28568	0.117000	0.15414	-5.758000	0.01606	-0.107000	0.15377	0.000000	0.06391	0.000000	0.08366	0.148000	0.20235	0.0926:0.4433:0.4641:0.0	7.850	0.28611	964	0.07719	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	2194.44	44	chr9	122629244	.	G	A	2194.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.92;DP=546;ExcessHet=0;FS=0.565;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.98;ReadPosRankSum=1.34;SOR=0.721	GT:AD:DP:GQ:PL	0/1:87,82:169:99:2205,0,2065	6	0	1	0
chr9	127383495	127383497	CTT	-	exonic	GARNL3	.	nonframeshift deletion	GARNL3:NM_032293:exon23:c.2219_2221del:p.S741del,GARNL3:NM_001286779:exon24:c.2153_2155del:p.S719del	.	435	1086	1	0	0	1	0.000460193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	2152.41	36	chr9	127383494	.	CCTT	C	2152.41	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.36;DP=327;ExcessHet=0;FS=0.63;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.05;ReadPosRankSum=0.931;SOR=0.782	GT:AD:DP:GQ:PL	0/1:85,58:143:99:2163,0,3374	6	0	1	0
chr9	127707148	127707148	G	C	exonic	CFAP157	.	nonsynonymous SNV	CFAP157:NM_001012502:exon1:c.G117C:p.E39D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.00511713534183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.054e-06	4.926e-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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.30656	T	0.133	0.34359	T	0.58	0.38813	P	0.16	0.34752	B	0.011693	0.29437	N	0.400143	0.937019	0.26902	N	.	.	.	0.85	0.47130	T	-2.13	0.48354	N	0.253	0.28616	-1.0776	0.07821	T	0.089	0.34271	T	10	0.15869087	0.29835	T	0.005117	0.13001	T	0.048	0.13305	0.117	0.02508	0.511220899679	0.50763	0.22389107574446282	0.22304	0.665481085244	0.59146	.	.	.	0.083009	0.36958	T	-0.233602	0.16174	T	-0.573329	0.15145	T	0.768105268478394	0.44326	D	0.642936	0.25461	T	0.07620602	0.17219	0.08653153	0.20054	0.07620602	0.17219	0.08653153	0.20054	-5.906	0.47647	T	.	.	0.170	0.37312	B	.;.	.;.	1.611943	0.20598	14.82	0.99153328533649743	0.53875	0.62448	0.31784	D	AEFDGBCI	0.199371	0.32618	N	-0.115357649790928	0.36724	2.126585	-0.0733379664216469	0.36497	2.124728	0.999992507834303	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.587068	0.30358	0	0.645665	0.59343	0	.	.	5.46	2.23	0.27189	0.091000	0.14885	0.384000	0.17813	0.649000	0.52879	0.993000	0.37899	0.958000	0.29226	0.883000	0.42306	0.3494:0.0:0.4698:0.1808	3.228	0.06340	268	0.89479	.;.	.	.	.	.	.	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	93.03	30	chr9	127707148	.	G	C	93.03	.	AC=1;AF=0.25;AN=4;BaseQRankSum=0.127;DP=193;ExcessHet=0;FS=106.325;MLEAC=2;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.6;ReadPosRankSum=1.42;SOR=6.182	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:40,18:58:98:.:.:98,0,502:.	1	0	1	5
chr9	127707149	127707149	T	C	exonic	CFAP157	.	nonsynonymous SNV	CFAP157:NM_001012502:exon1:c.T118C:p.F40L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.159	0.019678184343	.	.	8.323e-06	0	0	0	0	0	0	6.059e-05	6.5e-06	1	154602	rs757079161	0.0001	0.0036	0.0001	8.536e-05	0.0002	9.346e-05	8.764e-05	0.0001	9.824e-05	9.678e-05	0	0	2.569e-05	0	0	0.0001	5.349e-05	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.191	0.28391	T	0.957	0.54824	D	0.799	0.58136	P	0.000003	0.62929	N	0.105467	0.999583	0.47691	D	.	.	.	1.01	0.41058	T	-5.4	0.85103	D	0.489	0.52829	-0.8745	0.50188	T	0.164	0.50078	T	10	0.3438111	0.51386	T	0.019678	0.42104	T	0.159	0.41286	0.15	0.05339	0.612519348966	0.60940	0.6570251018140777	0.65639	0.875989159395	0.69568	.	.	.	0.327925	0.69838	T	-0.210031	0.19374	T	-0.357944	0.38290	T	0.938539505004883	0.60923	D	0.579842	0.20971	T	0.85248286	0.87520	0.67909664	0.81148	0.85248286	0.87521	0.67909664	0.81149	-9.512	0.72170	D	.	.	0.947	0.86617	P	.;.	.;.	4.218635	0.63791	24.6	0.99813715176146511	0.89708	0.79497	0.39404	D	AEFDGBCI	0.430877	0.49340	N	0.327399038086192	0.57559	3.923681	0.314456036050452	0.56389	3.802111	0.999999899276312	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.587068	0.30358	0	0.645665	0.59343	0	.	.	5.46	4.33	0.51083	4.073000	0.57290	3.987000	0.40955	0.638000	0.52053	1.000000	0.71638	1.000000	0.68203	0.929000	0.46594	0.0:0.0857:0.0:0.9143	9.215	0.36505	268	0.89479	.;.	.	.	.	.	.	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	189.45	30	chr9	127707149	.	T	C	189.45	.	AC=1;AF=0.167;AN=6;BaseQRankSum=-1.033;DP=198;ExcessHet=0;FS=70.686;MLEAC=1;MLEAF=0.167;MQ=60;MQRankSum=0;QD=3.11;ReadPosRankSum=1.42;SOR=5.667	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:48,13:61:99:0|1:127707149_T_C:196,0,1731:127707149	2	0	1	4
chr9	127707150	127707150	T	C	exonic	CFAP157	.	nonsynonymous SNV	CFAP157:NM_001012502:exon1:c.T119C:p.F40S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.321	0.0295012344328	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.025e-05	0.0013	2.604e-05	1.446e-05	3.126e-05	1.404e-05	1.209e-05	1.739e-05	1.477e-05	3.126e-05	0	0	0	0	0	2.5e-05	0	1.182e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.053	0.47336	T	1.0	0.90584	D	0.993	0.81110	D	0.000003	0.62929	D	0.105467	0.99989	0.50595	D	.	.	.	1.1	0.39050	T	-7.17	0.94145	D	0.892	0.90025	-0.7757	0.56542	T	0.227	0.59233	T	10	0.62868714	0.68391	D	0.029501	0.51995	D	0.321	0.64318	0.292	0.25400	0.617737460462	0.61464	0.8563961070607592	0.85602	1.09668489094	0.77603	.	.	.	0.333157	0.70304	T	0.256066	0.79166	D	0.130044	0.78896	D	0.995957314968109	0.88384	D	0.631737	0.24648	T	0.883188	0.89932	0.88241297	0.93731	0.883188	0.89933	0.88241297	0.93731	-12.272	0.88445	D	.	.	0.839	0.79209	P	.;.	.;.	4.916668	0.80938	27.4	0.99871547018832008	0.94902	0.88781	0.48875	D	AEFDGBCI	0.697108	0.65523	D	0.612068453635021	0.73938	6.048333	0.59676151836649	0.74706	6.182971	0.9999999998598	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.587068	0.30358	0	0.645665	0.59343	0	.	.	5.46	5.46	0.80021	5.665000	0.67722	5.919000	0.51137	0.638000	0.52053	1.000000	0.71638	1.000000	0.68203	0.956000	0.50813	0.0:0.0:0.0:1.0	13.490	0.60843	268	0.89479	.;.	.	.	.	.	.	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	189.75	29	chr9	127707150	.	T	C	189.75	.	AC=1;AF=0.167;AN=6;BaseQRankSum=-1.128;DP=201;ExcessHet=0;FS=49.857;MLEAC=2;MLEAF=0.333;MQ=60;MQRankSum=0;QD=3.11;ReadPosRankSum=1.49;SOR=5.279	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:48,13:61:99:0|1:127707149_T_C:196,0,1731:127707149	2	0	1	4
chr9	128822602	128822605	AGTA	-	exonic	ENDOG	.	frameshift deletion	ENDOG:NM_004435:exon3:c.886_889del:p.K297Efs*6	.	428	1088	6	0	0	6	0.00274977	.	.	.	215391	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	0.0024	0.00419329	0.0025	0.0006	0.0109	0.0047	0	0.0040	0	0.0005	0.0001537	4	26028	rs1353989257	0.0021	0.0021	0.0022	0.0021	0.0233	0.0021	0.0021	0.0201	0.0189	0.0010	0.0071	0.0046	0.0016	0	0.0233	0.0020	0.0027	0.0007	0.0022	0.0022	0.0021	0.0024	0.0086	0.0021	0.0020	0.0074	0.0070	0.0008	0	0.0086	0.0066	0.0014	0	0.0204	0.0019	0.0033	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021761	0.000000	0.016349	0.070588	0.050000	0.008772	0.009259	0.011450	0.07143	1953.79	37	chr9	128822601	.	CAGTA	C	1953.79	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.892;DP=293;ExcessHet=0;FS=7.303;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=17.76;ReadPosRankSum=1.51;SOR=0.995	GT:AD:DP:GQ:PL	0/1:59,51:110:99:1964,0,2267	6	0	1	0
chr9	128946673	128946673	G	A	exonic	DOLK	.	nonsynonymous SNV	DOLK:NM_014908:exon1:c.C631T:p.R211C	Congenital disorder of glycosylation, type Im, Autosomal recessive	0	1517	5	0	0	5	0.00164528	.	.	.	101544	not_provided|DK1-congenital_disorder_of_glycosylation|Cardiovascular_phenotype|not_specified	MedGen:C3661900|MONDO:MONDO:0012556,MedGen:C1835849,OMIM:610768,Orphanet:91131|MedGen:CN230736|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.591	0.0357950066277	0.0028	0.00139776	0.0018	0.0013	0.0017	0	0.0006	0.0024	0	0.0011	0.0019146	296	154602	rs145310298	0.0034	0.0034	0.0035	0.0033	0.0041	0.0033	0.0033	0.0040	0.0039	0.0005	0.0022	3.826e-05	0	0.0005	0.0016	0.0041	0.0036	0.0010	0.0023	0.0023	0.0027	0.0019	0.0036	0.0021	0.0020	0.0031	0.0030	0.0009	0	0.0036	0	0	0.0007	0.0068	0.0035	0.0043	0.0006	0.181	0.21884	T	0.148	0.32675	T	0.588	0.38987	P	0.103	0.30945	B	0.006107	0.32266	N	0.248173	1	0.81001	D	2.14	0.59869	M	-2.43	0.88689	D	0.49	0.02993	N	0.245	0.27673	-0.4172	0.71481	T	0.351	0.71454	T	10	0.015254825	0.00320	T	0.035795	0.56579	D	0.591	0.83691	.	.	0.853481155907	0.85206	0.6037860347003077	0.60309	0.507186606807	0.48905	0.581625282764	0.50314	T	0.173423	0.52229	T	-0.153905	0.27703	T	0.0072411	0.70805	D	0.0140418310002991	0.00272	T	0.970903	0.89563	D	0.066901065	0.14438	0.055882383	0.09886	0.066901065	0.14438	0.055882383	0.09885	-4.295	0.28107	T	.	.	0.201	0.42549	B	.	.	4.216870	0.63755	24.6	0.94934467679695023	0.25822	0.88013	0.47759	D	AEFGBCI	0.686747	0.64832	D	-0.0295646826244289	0.40520	2.407741	0.0919525540205277	0.44143	2.701793	0.99999993302508	0.74766	0.660085	0.49399	0	0.672317	0.65289	0	0.662677	0.59975	0	0.651492	0.60203	0	.	.	5.26	4.36	0.51643	3.346000	0.51907	6.196000	0.54830	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.1654:0.0:0.8346:0.0	9.095	0.35795	901	0.24189	.	.	.	.	.	.	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	5713.44	33	chr9	128946673	.	G	A	5713.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.62;DP=659;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.45;ReadPosRankSum=-0.436;SOR=0.685	GT:AD:DP:GQ:PL	0/1:231,228:459:99:5724,0,5252	6	0	1	0
chr9	136276277	136276277	C	A	exonic	CCDC187	.	nonsynonymous SNV	CCDC187:NM_001378188:exon12:c.G3142T:p.A1048S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12977237	0.24695	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.408959	0.10549	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.144	0.31758	B	.	.	1.668087	0.21268	15.13	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.200000	0.17055	0.428000	0.18294	0.587000	0.30956	0.002000	0.15269	0.801000	0.26950	0.010000	0.09038	.	.	.	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	.	.	.	.	.	.	.	.	0.1	33.18	.	chr9	136276277	.	C	A	33.18	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-0.967;DP=9;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.06;ReadPosRankSum=0.967;SOR=0.223	GT:AD:DP:GQ:PL	0/1:1,2:3:32:40,0,32	4	0	1	2
chr9	136290009	136290009	C	T	exonic	CCDC187	.	stopgain	CCDC187:NM_001291516:exon7:c.G1878A:p.W626X,CCDC187:NM_001378188:exon7:c.G2172A:p.W724X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs930342382	6.899e-05	3.34e-05	8.23e-05	5.604e-05	0.0008	4.297e-05	3.529e-05	6.278e-05	5.134e-05	0	0	0	0	0	0.0008	0.0001	0	0	3.286e-05	3.283e-05	2.57e-05	4.036e-05	7.352e-05	1.261e-05	7.98e-06	2.847e-05	1.859e-05	0	0	0	0	0	0	0	7.352e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.13341	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	8.482813	0.97621	37	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.758000	0.26113	4.211000	0.42532	0.549000	0.26987	0.013000	0.18845	1.000000	0.68203	0.360000	0.25886	.	.	.	784	0.47045	.;.;.	.	.	.	.	.	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	712.27	23	chr9	136290009	.	C	T	712.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.011;DP=208;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.19;ReadPosRankSum=1.38;SOR=0.664	GT:AD:DP:GQ:PL	0/1:21,33:54:99:722,0,410	5	0	1	1
chr9	137114652	137114652	G	A	exonic	DPP7	.	nonsynonymous SNV	DPP7:NM_013379:exon1:c.C62T:p.A21V	.	439	1074	4	0	5	9	0.00185874	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	.	.	0.000998403	0.0050	0	0	0	0	0	0	0.0137	9.06e-05	14	154602	rs551973637	6.542e-05	7.457e-05	5.224e-05	7.95e-05	0.0010	5.351e-05	4.957e-05	0.0008	0.0007	0	0	0	0	0	0	2.205e-05	2.002e-05	0.0010	7.23e-05	7.22e-05	3.857e-05	0.0001	0.0014	3.972e-05	3.128e-05	0.0007	0.0005	2.407e-05	0	0	0	0	0	0	2.943e-05	0.0005	0.0014	0.175	0.22400	T	0.368	0.16570	T	0.105	0.25993	B	0.005	0.11217	B	0.585632	0.05561	N	1.241380	1	0.08975	N	0	0.06538	N	2.46	0.14907	T	-0.49	0.15578	N	0.042	0.01498	-0.9727	0.36627	T	0.021	0.08639	T	10	0.004212588	0.00084	T	.	.	.	0.019	0.03383	0.438	0.49157	0.246773566709	0.24272	0.46234529585456335	0.46152	0.074145565323	0.08315	0.711295545101	0.68781	T	0.001278	0.00758	T	-0.590185	0.00167	T	-0.618618	0.11294	T	0.0326320162687998	0.02410	T	0.473453	0.14099	T	0.026593002	0.01736	0.035472967	0.02807	0.026593002	0.01736	0.035472967	0.02806	-5.265	0.39596	T	.	.	0.146	0.32324	B	.;.	.;.	1.376773	0.17874	13.42	0.98626832356056382	0.43852	0.91284	0.53224	D	AEFDGBHCI	0.075432	0.15147	N	-1.10172859229677	0.06613	0.304897	-1.13169878954619	0.07101	0.3441598	0.999999999999995	0.74766	0.65757	0.49021	0	0.52208	0.09955	0	0.619478	0.44681	0	0.604282	0.37693	0	.	.	2.54	1.63	0.22882	1.163000	0.31408	1.524000	0.27113	0.524000	0.24156	0.004000	0.16614	0.006000	0.19429	0.002000	0.04165	0.1723:0.0:0.8277:0.0	5.022	0.13709	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	163.84	7	chr9	137114652	.	G	A	163.84	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.353;DP=80;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.65;ReadPosRankSum=-1.016;SOR=1.445	GT:AD:DP:GQ:PL	0/1:6,6:12:99:174,0,146	6	0	1	0
chr9	137215195	137215195	C	T	exonic	NDOR1	.	nonsynonymous SNV	NDOR1:NM_001144027:exon8:c.C1064T:p.S355L,NDOR1:NM_001144026:exon9:c.C1166T:p.S389L,NDOR1:NM_001144028:exon9:c.C1166T:p.S389L,NDOR1:NM_014434:exon9:c.C1166T:p.S389L	.	404	1093	24	1	0	26	0.0117541	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.633	.	0.0026	0.00119808	0.0042	0.0005	0.0020	0	0.0202	0.0043	0.0090	0.0045	0.0036416	563	154602	rs150718423	0.0033	0.0033	0.0032	0.0034	0.0050	0.0032	0.0032	0.0044	0.0042	0.0004	0.0023	0.0008	0	0.0140	0.0050	0.0030	0.0034	0.0047	0.0034	0.0034	0.0027	0.0041	0.0040	0.0031	0.0030	0.0036	0.0034	0.0004	0	0.0027	0.0003	0.0002	0.0146	0.0034	0.0040	0.0047	0.0039	0.001	0.78490	D	0.002	0.79402	D	0.999	0.90584	D	0.947	0.82059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.15	0.97575	H	-0.99	0.75911	T	-5.67	0.87143	D	0.818	0.81360	0.528	0.90939	D	0.652	0.87866	D	10	0.028880298	0.01017	T	.	.	.	0.633	0.85924	.	.	0.900595898261	0.89960	0.8560677092019127	0.85569	0.686208846331	0.60320	0.737328290939	0.72579	T	0.205969	0.56518	T	-0.00834766	0.50497	T	0.215911	0.83969	D	0.13665932178373	0.15984	T	0.979469	0.92930	D	0.7062033	0.78398	0.6236406	0.78067	0.7062033	0.78399	0.6236406	0.78068	-11.428	0.82678	D	.	.	0.683	0.72283	P	.;.;.;.	.;.;.;.	4.687627	0.75076	26.3	0.99846681344304111	0.92663	0.90458	0.51651	D	AEFGBI	0.363951	0.45267	N	0.422679150873749	0.62672	4.48692	0.231735266002781	0.51615	3.342666	0.999999999999459	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.57	4.57	0.55860	5.387000	0.65993	7.431000	0.58793	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.034000	0.13613	0.0:1.0:0.0:0.0	16.266	0.82404	988	0.01987	.;.;.;Sulfite reductase [NADPH] flavoprotein alpha-component-like, FAD-binding|Flavoprotein pyridine nucleotide cytochrome reductase|FAD-binding domain, ferredoxin reductase-type	.	.	.	.	.	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	0.006073	0.000000	0.002717	0.005882	0.000000	0.000000	0.012346	0.007634	0.07143	865.63	40	chr9	137215195	.	C	T	865.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.287;DP=279;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.07;ReadPosRankSum=-0.67;SOR=0.779	GT:AD:DP:GQ:PL	0/1:48,38:86:99:876,0,1131	6	0	1	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	0/1:92,52:144:99:364,0,1406	1	0	5	1
chr10	14774379	14774379	G	C	exonic	FAM107B	.	nonsynonymous SNV	FAM107B:NM_031453:exon1:c.C285G:p.H95Q	.	435	1053	30	4	0	38	0.0177239	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.096	.	0.0052	0.00499201	0.0078	0.0024	0.0060	0.0002	0.0042	0.0099	0.0143	0.0090	0.0074579	1153	154602	rs144131218	0.0071	0.0071	0.0071	0.0072	0.0257	0.0070	0.0070	0.0223	0.0210	0.0026	0.0057	0.0210	5.038e-05	0.0051	0.0257	0.0071	0.0088	0.0088	0.0058	0.0058	0.0057	0.0058	0.0077	0.0054	0.0053	0.0069	0.0067	0.0021	0.0066	0.0063	0.0176	0.0004	0.0046	0.0306	0.0075	0.0099	0.0077	0.01	0.56456	D	0.013	0.63109	D	0.039	0.21116	B	0.025	0.20508	B	0.409184	0.13020	N	0.659654	1	0.08975	N	.	.	.	0.95	0.43279	T	-0.34	0.12661	N	0.089	0.06720	-1.0440	0.16118	T	0.034	0.14552	T	10	0.0039682686	0.00076	T	.	.	.	0.096	0.27654	0.069	0.00373	0.0401082797425	0.02173	0.045393378275196114	0.04483	0.137498292665	0.15505	0.269615024328	0.06091	T	.	.	.	-0.661509	0.00061	T	-0.716307	0.04976	T	0.00527193897329937	0.00057	T	0.29867	0.05569	T	.	.	.	.	.	.	.	.	-2.665	0.07014	T	.	.	0.093	0.14015	B	.	.	0.433597	0.08038	4.760	0.46671962577178489	0.03756	0.10494	0.15985	N	AEFBI	0.085575	0.17348	N	-1.29361667126291	0.03751	0.1681429	-1.30599892829859	0.04352	0.2050923	1.49545221312901E-5	0.02871	0.446893	0.09132	0	0.563428	0.19063	0	0.573078	0.19857	0	0.613276	0.41899	0	.	.	5.23	-1.32	0.08721	-0.031000	0.12237	1.301000	0.25475	-0.818000	0.02990	0.193000	0.24225	0.898000	0.27928	0.001000	0.02609	0.3458:0.1249:0.2687:0.2606	0.470	0.00494	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	0.021652	0.015152	0.031250	0.038012	0.000000	0.025862	0.009146	0.003788	0.07143	2917.44	35	chr10	14774379	.	G	C	2917.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.904;DP=374;ExcessHet=0;FS=1.178;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.86;ReadPosRankSum=1.22;SOR=0.809	GT:AD:DP:GQ:PL	0/1:77,107:184:99:2928,0,1972	6	0	1	0
chr10	14867895	14867895	A	G	exonic	HSPA14	.	nonsynonymous SNV	HSPA14:NM_016299:exon12:c.A1366G:p.T456A	.	.	.	.	.	.	.	.	.	.	.	2714079	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.074	0.021339960336	.	.	2.484e-05	0	0.0002	0	0	0	0.0011	0	1.94e-05	3	154602	rs201930086	8.213e-06	8.209e-06	1.226e-05	4.127e-06	0.0001	4.38e-06	3.46e-06	4.377e-05	2.779e-05	2.992e-05	0.0001	0	0	0	0	5.397e-06	0	0	1.314e-05	1.313e-05	1.285e-05	1.345e-05	0.0001	2.18e-06	8.2e-07	2.262e-05	9.08e-06	0	0	0.0001	0	0	0	0	0	0	0	0.047	0.40319	D	0.767	0.04523	T	0.0	0.02946	B	0.0	0.01387	B	0.023517	0.26429	N	0.441828	0.999952	0.19072	N	0.935	0.23595	L	5.51	0.00912	T	-0.79	0.21860	N	0.143	0.14338	-0.7273	0.59099	T	0.003	0.00994	T	10	0.048625737	0.04339	T	0.02134	0.44093	T	0.074	0.21613	0.439	0.49321	0.082315109003	0.07666	0.16758082006675482	0.16678	0.294378152891	0.31862	0.300307869911	0.10446	T	0.034521	0.23354	T	-0.499271	0.00577	T	-0.729243	0.04361	T	0.191528931260109	0.19934	T	0.378362	0.09086	T	0.04477211	0.07216	0.037432063	0.03395	0.04477211	0.07216	0.037432063	0.03394	-5.051	0.37389	T	.	.	0.069	0.03093	B	.	.	1.536553	0.19710	14.40	0.99005110119225592	0.50231	0.43551	0.27123	N	AEFDBI	0.064697	0.12578	N	-0.384944173788487	0.26004	1.415963	-0.247439973692855	0.29861	1.676382	0.997115232472082	0.35288	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.92	3.54	0.39650	0.785000	0.26491	5.229000	0.48025	0.756000	0.94297	0.443000	0.26511	1.000000	0.68203	0.951000	0.49849	0.6206:0.0:0.2566:0.1229	5.182	0.14491	537	0.73184	.	.	.	.	.	.	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	1287.53	33	chr10	14867895	.	A	G	1287.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.4;DP=288;ExcessHet=0;FS=0.725;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.6;ReadPosRankSum=-3.109;SOR=0.781	GT:AD:DP:GQ:PL	0/1:58,53:111:99:1298,0,1369	6	0	1	0
chr10	26224622	26224622	G	A	exonic	GAD2	.	nonsynonymous SNV	GAD2:NM_000818:exon6:c.G695A:p.G232E,GAD2:NM_001134366:exon6:c.G695A:p.G232E	.	415	1103	4	0	0	4	0.00180995	.	.	.	701298	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.073	.	0.0075	0.00359425	0.0067	0.0013	0.0023	0	0.0086	0.0101	0.0066	0.0022	0.0066041	1021	154602	rs2839673	0.0080	0.0080	0.0082	0.0078	0.0090	0.0079	0.0078	0.0088	0.0087	0.0015	0.0029	0.0141	0	0.0093	0.0024	0.0090	0.0082	0.0025	0.0059	0.0059	0.0058	0.0060	0.0087	0.0056	0.0054	0.0082	0.0079	0.0016	0	0.0043	0.0118	0	0.0096	0.0034	0.0087	0.0081	0.0025	0.467	0.08559	T	1.0	0.01155	T	0.046	0.21875	B	0.014	0.16862	B	0.000003	0.62929	D	0.119241	1	0.81001	D	-0.55	0.02420	N	1.21	0.37230	T	0.29	0.04161	N	0.282	0.32037	-1.0817	0.07022	T	0.034	0.14421	T	10	0.0071927905	0.00164	T	.	.	.	0.073	0.21317	.	.	0.102598925029	0.09809	0.884749248604161	0.88442	0.519325346913	0.49757	0.613496363163	0.54809	T	0.244947	0.61416	T	-0.555905	0.00269	T	-0.564472	0.15961	T	0.0251972563727982	0.01298	T	0.916108	0.70062	D	0.31730086	0.54410	0.33986452	0.59746	0.31730086	0.54410	0.33986452	0.59745	-8.459	0.64157	D	.	.	0.097	0.20972	B	.;.;.	.;.;.	2.747327	0.36003	20.1	0.79017217796254569	0.12553	0.92564	0.56008	D	AEFBI	0.662828	0.63256	D	-0.161256440077824	0.34758	1.987812	0.0827844949828894	0.43681	2.66503	0.01991065545891	0.13207	0.487112	0.14033	0	0.59043	0.45803	0	0.59043	0.30614	0	0.564101	0.26826	0	.	.	5.21	5.21	0.72005	6.267000	0.72514	10.035000	0.83175	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	18.788	0.91927	655	0.62421	.;.;.	.	.	.	.	.	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	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.07143	869.63	35	chr10	26224622	.	G	A	869.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.219;DP=269;ExcessHet=0;FS=1.745;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.88;ReadPosRankSum=-0.904;SOR=0.566	GT:AD:DP:GQ:PL	0/1:47,41:88:99:880,0,1033	6	0	1	0
chr10	69005076	69005076	C	T	exonic	KIFBP	.	nonsynonymous SNV	KIFBP:NM_015634:exon3:c.C556T:p.R186C	.	0	1516	6	0	0	6	0.00197498	.	.	.	207787	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.090	0.0116134492259	.	0.000199681	0.0001	0	0	0	0	7.509e-05	0	0.0005	9.06e-05	14	154602	rs200098813	6.159e-05	6.156e-05	4.358e-05	7.978e-05	0.0007	5.096e-05	4.717e-05	0.0005	0.0005	2.989e-05	0	0	0	0	0.0002	2.159e-05	9.938e-05	0.0007	3.285e-05	3.281e-05	0	6.718e-05	0.0010	1.261e-05	7.98e-06	0.0004	0.0003	0	0	0	0	0	0	0	0	0	0.0010	0.176	0.22312	T	0.177	0.29740	T	0.279	0.32056	B	0.004	0.10090	B	0.000031	0.55875	N	0.193241	0.608728	0.30879	N	0	0.06538	N	0.96	0.42888	T	-0.39	0.13611	N	0.173	0.19459	-1.0549	0.13066	T	0.051	0.21611	T	10	0.029938102	0.01119	T	0.011613	0.29407	T	0.090	0.26093	0.329	0.31357	0.215869574891	0.21205	0.20233779559835324	0.20150	0.625028188271	0.56690	0.272708654404	0.06497	T	0.025514	0.19064	T	-0.487937	0.00667	T	-0.582287	0.14342	T	0.0509500982539343	0.05666	T	0.690331	0.31049	T	0.06140189	0.12710	0.047238357	0.06762	0.06140189	0.12709	0.047238357	0.06762	-2.827	0.08435	T	.	.	0.079	0.08851	B	.;.;.	.;.;.	2.247974	0.28711	17.89	0.89516138237541665	0.18863	0.67185	0.33341	D	ALL	0.184487	0.31181	N	-0.641033587634973	0.17721	0.9143173	-0.455348819939227	0.23397	1.275734	0.999999870634786	0.74766	0.730579	0.87903	0	0.637152	0.57089	0	0.630245	0.45026	0	0.648885	0.59868	0	.	.	5.79	3.96	0.45097	1.457000	0.34822	4.000000	0.41065	-2.016000	0.00438	1.000000	0.71638	1.000000	0.68203	0.396000	0.26692	0.0:0.8642:0.0:0.1358	12.611	0.55906	760	0.50470	.;.;.	.	.	.	.	.	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	0.000000	0.000000	0.000000	0.000000	0.007576	0.07143	1919.44	33	chr10	69005076	.	C	T	1919.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.02;DP=364;ExcessHet=0;FS=1.159;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.55;ReadPosRankSum=1.22;SOR=0.813	GT:AD:DP:GQ:PL	0/1:98,84:182:99:1930,0,2063	6	0	1	0
chr10	69247431	69247432	GC	-	exonic	HKDC1	.	frameshift deletion	HKDC1:NM_025130:exon9:c.1103_1104del:p.C368Yfs*71	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	3242.4	34	chr10	69247430	.	TGC	T	3242.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.711;DP=359;ExcessHet=0;FS=0.561;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=18.74;ReadPosRankSum=0.843;SOR=0.643	GT:AD:DP:GQ:PL	0/1:89,84:173:99:3253,0,3476	6	0	1	0
chr10	93074995	93074995	G	T	exonic	CYP26A1	.	nonsynonymous SNV	CYP26A1:NM_000783:exon3:c.G631T:p.V211L,CYP26A1:NM_057157:exon3:c.G424T:p.V142L	.	418	1096	8	0	0	8	0.00363636	.	.	.	3510367	CYP26A1-related_condition	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.054	0.0164878588491	0.0021	0.000798722	0.0026	0.0006	0.0010	0	0.0023	0.0039	0.0034	0.0013	0.002639	408	154602	rs149343022	0.0035	0.0035	0.0037	0.0034	0.0042	0.0034	0.0034	0.0041	0.0040	0.0004	0.0011	0.0004	0	0.0023	0.0007	0.0042	0.0031	0.0012	0.0030	0.0030	0.0031	0.0030	0.0040	0.0028	0.0027	0.0036	0.0034	0.0009	0.1140	0.0008	0.0003	0.0002	0.0024	0	0.0040	0.0028	0.0006	0.225	0.18626	T	0.697	0.13752	T	0.0	0.02946	B	0.006	0.12133	B	0.000079	0.52346	D	0.130913	0.999699	0.48338	D	1.065	0.27018	L	-0.32	0.68181	T	-0.84	0.22944	N	0.332	0.38129	-1.0057	0.28247	T	0.105	0.38415	T	10	0.008923709	0.00202	T	0.016488	0.37771	T	0.054	0.15330	0.433	0.48336	0.802906345537	0.80106	0.7079102033808276	0.70733	0.211756990206	0.23675	0.488331317902	0.37206	T	0.085587	0.37536	T	-0.393072	0.02569	T	-0.336168	0.40778	T	0.0094072691510376	0.00120	T	0.809419	0.45992	T	0.23904943	0.46790	0.1520672	0.35793	0.23904943	0.46790	0.1520672	0.35792	-5.609	0.42874	T	.	.	0.181	0.49635	B	.;.	.;.	3.264783	0.44665	22.0	0.98157004221277444	0.38738	0.89378	0.49806	D	AEFDBHCI	0.569029	0.57397	D	-0.265998640686952	0.30470	1.699291	-0.0731042014672711	0.36506	2.125417	0.999999671417263	0.74766	0.652421	0.48094	0	0.596491	0.49125	0	0.64067	0.45733	0	0.554799	0.18163	0	.	.	5.03	4.13	0.47661	4.761000	0.61939	9.498000	0.80904	0.586000	0.30580	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0765:0.1453:0.7782:0.0	9.232	0.36605	781	0.47532	.;.	.	.	.	.	.	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	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.07143	1297.45	36	chr10	93074995	.	G	T	1297.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.85;DP=309;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.38;ReadPosRankSum=-2.27;SOR=0.655	GT:AD:DP:GQ:PL	0/1:73,52:125:99:1308,0,1891	6	0	1	0
chr10	94350131	94350131	C	T	exonic	NOC3L	.	nonsynonymous SNV	NOC3L:NM_022451:exon9:c.G1110A:p.M370I	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.0167213400523	0.0017	0.000599042	0.0020	9.61e-05	0.0003	0	0.0054	0.0028	0	0.0007	0.0017141	265	154602	rs149695235	0.0017	0.0017	0.0017	0.0018	0.0026	0.0017	0.0017	0.0016	0.0016	0.0001	0.0006	0.0078	0	0.0047	0.0026	0.0017	0.0020	0.0004	0.0014	0.0014	0.0014	0.0013	0.0017	0.0012	0.0012	0.0015	0.0014	0.0002	0	0.0005	0.0066	0	0.0044	0	0.0017	0.0005	0.0008	0.021	0.49117	D	0.089	0.40426	T	0.391	0.34615	B	0.032	0.22131	B	0.000000	0.84330	D	0.038085	0.999746	0.48716	D	1.81	0.47622	L	1.56	0.29602	T	-1.42	0.34992	N	0.813	0.80866	-0.8548	0.51634	T	0.182	0.53011	T	10	0.016596645	0.00350	T	0.016721	0.38109	T	0.105	0.29889	0.47	0.54376	0.519514513453	0.51594	0.5604774671035463	0.55974	0.101891129517	0.11533	0.712025284767	0.68887	T	0.009988	0.09054	T	-0.334505	0.05778	T	-0.259437	0.48880	T	0.0215046245721942	0.00854	T	0.920008	0.71084	D	0.28023362	0.51071	0.22231494	0.47072	0.28023362	0.51071	0.22231494	0.47071	-4.437	0.30055	T	.	.	0.763	0.75635	P	.	.	3.816558	0.55084	23.6	0.99187028650309128	0.54848	0.97726	0.76690	D	AEFGBI	0.669029	0.63660	D	0.20144773478301	0.51269	3.309543	0.338514129704072	0.57818	3.949142	0.999289095037812	0.39007	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.83	5.83	0.93059	5.772000	0.68543	7.649000	0.63599	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.834000	0.39329	0.0:0.863:0.137:0.0	15.582	0.76198	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	0.002014	0.000000	0.004076	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	1176.44	33	chr10	94350131	.	C	T	1176.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.016;DP=270;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.52;ReadPosRankSum=3.31;SOR=0.726	GT:AD:DP:GQ:PL	0/1:38,49:87:99:1187,0,873	6	0	1	0
chr10	96157550	96157550	G	A	exonic	ZNF518A	.	nonsynonymous SNV	ZNF518A:NM_001278525:exon6:c.G1228A:p.A410T,ZNF518A:NM_001330732:exon6:c.G1228A:p.A410T,ZNF518A:NM_001330735:exon6:c.G1228A:p.A410T,ZNF518A:NM_001330736:exon6:c.G1228A:p.A410T,ZNF518A:NM_014803:exon6:c.G1228A:p.A410T,ZNF518A:NM_001278524:exon7:c.G1228A:p.A410T,ZNF518A:NM_001330733:exon7:c.G1228A:p.A410T,ZNF518A:NM_001330734:exon7:c.G1228A:p.A410T,ZNF518A:NM_001330737:exon7:c.G1228A:p.A410T,ZNF518A:NM_001330738:exon7:c.G1228A:p.A410T	.	428	1075	18	0	1	19	0.00830258	.	.	.	2809510	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0067	0.00179712	0.0060	0.0008	0.0033	0	0.0041	0.0092	0.0034	0.0021	0.0061836	956	154602	rs61731065	0.0076	0.0076	0.0077	0.0074	0.0120	0.0074	0.0074	0.0097	0.0089	0.0014	0.0044	0.0096	2.519e-05	0.0059	0.0120	0.0085	0.0076	0.0022	0.0060	0.0060	0.0060	0.0060	0.0091	0.0057	0.0056	0.0085	0.0083	0.0013	0.0055	0.0085	0.0092	0	0.0045	0.0068	0.0091	0.0095	0.0019	.	.	.	0.477	0.12002	T	0.007	0.14184	B	0.001	0.04355	B	.	.	.	.	.	.	.	1.245	0.31408	L	.	.	.	.	.	.	0.024	0.00445	.	.	.	.	.	.	.	0.0035986006	0.00065	T	.	.	.	.	.	.	.	0.132336055621	0.12781	0.10398356641864942	0.10328	.	.	0.210404261947	0.00829	T	0.015565	0.13030	T	-0.56618	0.00233	T	-0.575024	0.14992	T	.	.	.	0.524848	0.17228	T	0.022812774	0.00971	0.12382738	0.29854	0.022812774	0.00970	0.12382738	0.29854	-2.943	0.09580	T	.	.	0.078	0.06896	B	.;.;.	.;.;.	0.562004	0.09308	6.087	0.64446507768959549	0.07496	0.15885	0.19128	N	AEFBI	.	.	.	.	.	.	.	.	.	2.65932550847017E-4	0.06244	0.295142	0.05270	0	0.156173	0.03658	0	0.343423	0.05949	0	0.221052	0.04502	0	0.0489367	0.08445	5.93	2.53	0.29594	0.973000	0.29020	0.092000	0.14529	0.676000	0.76740	0.014000	0.18986	0.034000	0.21380	0.455000	0.28006	0.1055:0.0:0.2304:0.6641	7.516	0.26770	514	0.74853	.;.;.	.	.	.	.	.	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	0.011078	0.010101	0.016304	0.014620	0.000000	0.008621	0.009146	0.000000	0.07143	1419.49	39	chr10	96157550	.	G	A	1419.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.93;DP=354;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11;ReadPosRankSum=0.419;SOR=0.649	GT:AD:DP:GQ:PL	0/1:76,53:129:99:1430,0,1821	6	0	1	0
chr10	99388176	99388176	G	C	exonic	CNNM1	.	nonsynonymous SNV	CNNM1:NM_020348:exon9:c.G2549C:p.S850T,CNNM1:NM_001345887:exon10:c.G2612C:p.S871T	.	420	1099	3	0	0	3	0.00136302	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.320	.	.	0.00439297	0.0031	0	0.0003	0.0001	0	1.51e-05	0.0011	0.0221	0.002639	408	154602	rs374814462	0.0013	0.0013	0.0007	0.0019	0.0208	0.0012	0.0012	0.0200	0.0197	0	4.472e-05	0	2.519e-05	0	0.0005	7.195e-06	0.0009	0.0208	0.0006	0.0006	0.0004	0.0009	0.0193	0.0005	0.0005	0.0161	0.0150	0	0	0	0	0	0	0	4.413e-05	0.0009	0.0193	0.007	0.59928	D	0.047	0.48855	D	0.826	0.45919	P	0.258	0.39350	B	0.000001	0.62929	D	0.000000	0.999312	0.81001	D	2.11	0.58565	M	-1.17	0.78199	T	-0.78	0.21644	N	0.396	0.43706	-0.0211	0.81816	T	0.462	0.79179	T	10	0.006013423	0.00135	T	.	.	.	0.320	0.64215	0.146	0.04941	0.343804874344	0.33996	0.6289054206179322	0.62823	.	.	0.477409720421	0.35701	T	0.008155	0.07505	T	-0.273064	0.11418	T	-0.148758	0.59353	T	0.0998376327233138	0.12340	T	0.874613	0.58533	D	0.32203022	0.54811	0.23087451	0.48202	0.32203022	0.54811	0.23087451	0.48201	-4.382	0.29312	T	.	.	0.083	0.09433	B	.	.	3.905729	0.56920	23.8	0.99402887467484524	0.62887	0.95542	0.65136	D	AEFDBCI	0.901822	0.84899	D	0.424248586183326	0.62758	4.497168	0.453360311381262	0.64932	4.760299	0.999999778554339	0.74766	0.554377	0.28877	0	0.563428	0.19063	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	4.67	4.67	0.58089	7.819000	0.84757	11.557000	0.93210	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.678000	0.33484	0.0:0.1551:0.8449:0.0	13.550	0.61187	555	0.71762	.	.	.	.	.	.	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	3499.44	33	chr10	99388176	.	G	C	3499.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.048;DP=371;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=19.33;ReadPosRankSum=0.833;SOR=0.714	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:90,91:181:99:0|1:99388176_G_C:3510,0,3473:99388176	6	0	1	0
chr10	99388181	99388181	A	G	exonic	CNNM1	.	nonsynonymous SNV	CNNM1:NM_020348:exon9:c.A2554G:p.S852G,CNNM1:NM_001345887:exon10:c.A2617G:p.S873G	.	420	1099	3	0	0	3	0.00136302	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	.	0.0002	0.00439297	0.0031	9.69e-05	0.0003	0.0001	0	1.509e-05	0.0011	0.0221	0.0026455	409	154602	rs367866402	0.0013	0.0013	0.0007	0.0019	0.0208	0.0012	0.0012	0.0200	0.0197	0	4.472e-05	0	2.519e-05	0	0.0005	7.195e-06	0.0009	0.0208	0.0006	0.0006	0.0004	0.0009	0.0193	0.0005	0.0005	0.0161	0.0149	2.404e-05	0	0	0	0	0	0	4.41e-05	0.0009	0.0193	0.647	0.04897	T	0.397	0.15157	T	0.0	0.02946	B	0.0	0.01387	B	0.033947	0.24832	N	0.298852	1	0.08975	N	0.285	0.10073	N	-1.08	0.77078	T	0.61	0.02480	N	0.081	0.05670	-0.9515	0.40712	T	0.169	0.50939	T	10	0.0030216575	0.00049	T	.	.	.	0.142	0.37995	.	.	0.123314135267	0.11883	0.23625331961114013	0.23540	.	.	0.320609390736	0.13513	T	0.002439	0.01836	T	-0.602617	0.00141	T	-0.622137	0.11018	T	0.00919878803982573	0.00116	T	0.515548	0.16619	T	0.033574402	0.03603	0.048697334	0.07286	0.033574402	0.03603	0.048697334	0.07286	-3.575	0.17496	T	.	.	0.050	0.00154	B	.	.	0.085854	0.04908	1.487	0.59708156384152788	0.06288	0.06949	0.12975	N	AEFDBCI	0.075455	0.15154	N	-1.64704715071549	0.01048	0.04544557	-1.60672452154945	0.01615	0.07327129	0.999265872204443	0.38940	0.497415	0.19182	0	0.563428	0.19063	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.67	-2.55	0.05922	0.404000	0.20722	0.125000	0.14969	-1.265000	0.01286	0.001000	0.13787	0.000000	0.08366	0.442000	0.27716	0.7368:0.0:0.2632:0.0	10.001	0.41101	555	0.71762	.	.	.	.	.	.	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	3549.44	33	chr10	99388181	.	A	G	3549.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.324;DP=371;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=19.29;ReadPosRankSum=0.311;SOR=0.691	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:91,93:184:99:0|1:99388176_G_C:3560,0,3489:99388176	6	0	1	0
chr10	102361884	102361884	T	C	exonic	GBF1	.	nonsynonymous SNV	GBF1:NM_001199378:exon14:c.T1658C:p.F553S,GBF1:NM_001199379:exon14:c.T1655C:p.F552S,GBF1:NM_001377137:exon14:c.T1658C:p.F553S,GBF1:NM_001377138:exon14:c.T1655C:p.F552S,GBF1:NM_001377141:exon14:c.T1655C:p.F552S,GBF1:NM_004193:exon14:c.T1655C:p.F552S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.716	0.08398282431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.122e-06	4.104e-06	4.099e-06	4.145e-06	5.41e-06	1.48e-06	9.7e-07	1.95e-06	1.28e-06	0	0	0	0	0	0	5.41e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.22	0.89398	M	-0.39	0.69158	T	-6.7	0.92476	D	0.982	0.99181	0.127	0.84653	D	0.528	0.82472	D	10	0.9131491	0.90678	D	0.083983	0.74230	D	0.716	0.89922	0.75	0.88071	0.912613176182	0.91173	0.7812713683420388	0.78078	1.08455585507	0.77236	0.850644350052	0.89713	D	0.278445	0.65110	T	0.396389	0.89706	D	0.331609	0.89576	D	0.997976362705231	0.92901	D	0.916508	0.70155	D	0.88281	0.89900	0.8551587	0.91851	0.88281	0.89901	0.8551587	0.91852	-12.845	0.88714	D	.	.	0.962	0.88310	P	.	.	4.897675	0.80468	27.3	0.99893871863166983	0.96742	0.90089	0.50997	D	ALL	0.904429	0.85471	D	0.900617876679746	0.91789	11.066	0.885299609517476	0.94900	13.13687	0.999999999494715	0.74766	0.719381	0.83141	0	0.697927	0.68747	0	0.724815	0.87919	0	0.733575	0.97253	0	.	.	6.17	6.17	0.99707	7.991000	0.87898	7.866000	0.71703	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.0:1.0	16.822	0.85699	675	0.60470	.	.	.	.	.	.	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	1030.83	33	chr10	102361884	.	T	C	1030.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.144;DP=260;ExcessHet=0;FS=0.777;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.2;ReadPosRankSum=0.051;SOR=0.793	GT:AD:DP:GQ:PL	0/1:47,45:92:99:1041,0,1175	6	0	1	0
chr10	104205980	104205980	C	T	exonic	CFAP43	.	nonsynonymous SNV	CFAP43:NM_025145:exon7:c.G946A:p.V316M	.	438	1081	3	0	0	3	0.00138568	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.0544880947398	0.0002	.	0.0003	0.0001	0.0010	0	0	0.0002	0.0045	0.0003	0.0003169	49	154602	rs145037288	0.0003	0.0003	0.0003	0.0003	0.0006	0.0003	0.0003	0.0004	0.0003	0	0.0006	0	5.053e-05	0	0.0004	0.0004	0.0003	0.0001	0.0001	0.0001	7.711e-05	0.0002	0.0002	7.582e-05	6.286e-05	0.0001	9.899e-05	2.415e-05	0	0.0001	0	0	0	0	0.0002	0.0005	0	0.061	0.37118	T	0.028	0.61642	D	0.01	0.15535	B	0.007	0.12992	B	0.827870	0.09129	N	0.896444	1	0.08975	N	.	.	.	2.43	0.71779	T	-0.02	0.11008	N	0.083	0.25867	-0.8409	0.52587	T	0.236	0.60331	T	10	0.0676834	0.09464	T	0.054488	0.65874	D	0.027	0.05988	.	.	0.0666544352282	0.05500	0.3553788682870235	0.35451	0.133321114024	0.15010	0.335001289845	0.15689	T	0.042834	0.26309	T	-0.418993	0.01736	T	-0.532214	0.19066	T	0.0217214814887951	0.00878	T	0.611339	0.23205	T	0.029603958	0.02482	0.050001226	0.07757	0.030417481	0.02701	0.06825314	0.14230	-4.338	0.28706	T	.	.	0.148	0.32613	B	.;.;.;.	.;.;.;.	0.342199	0.07159	3.741	0.9509993307076311	0.26174	0.00848	0.03390	N	AEFBI	0.050165	0.08742	N	-0.981044823813975	0.09008	0.4246392	-1.04275323156384	0.08858	0.4376519	5.69717695505287E-5	0.04171	0.516011	0.20929	0	0.59043	0.45803	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	4.43	-1.23	0.08977	-2.598000	0.00968	-5.152000	0.01829	-0.835000	0.02838	0.000000	0.06391	0.000000	0.08366	0.771000	0.36558	0.0:0.351:0.0:0.649	8.014	0.29530	197	0.92378	.;.;.;.	.	.	.	.	.	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	0.003788	0.08333	410.27	27	chr10	104205980	.	C	T	410.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.776;DP=186;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.73;ReadPosRankSum=0.821;SOR=0.622	GT:AD:DP:GQ:PL	0/1:25,22:47:99:420,0,535	5	0	1	1
chr10	117341050	117341050	C	T	exonic	PDZD8	.	nonsynonymous SNV	PDZD8:NM_173791:exon2:c.G925A:p.E309K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.304	0.111422988151	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	0.33585	T	0.284	0.21411	T	0.104	0.25941	B	0.024	0.20255	B	0.100580	0.19880	N	0.530412	0.918501	0.36608	D	1.04	0.26193	L	-1.98	0.85247	D	-0.39	0.13611	N	0.56	0.58458	-0.3391	0.73870	T	0.434	0.77478	T	10	0.2526929	0.42627	T	0.111423	0.78920	D	0.304	0.62510	0.426	0.47185	0.406687239423	0.40287	0.3484412965450981	0.34758	0.878990842918	0.69697	0.551437139511	0.46060	T	0.004486	0.03887	T	0.0534098	0.58780	T	-0.161057	0.58257	T	0.401935211681401	0.29015	T	0.631737	0.24648	T	0.12929	0.30201	0.1091909	0.26311	0.12929	0.30201	0.1091909	0.26311	-4.196	0.26694	T	.	.	0.138	0.30103	B	.	.	2.876239	0.38048	20.6	0.99707916019332055	0.81143	0.81768	0.41106	D	AEFBI	0.402723	0.47670	N	-0.00176634886459942	0.41776	2.504867	0.196643706894966	0.49661	3.166775	0.999999995606444	0.74766	0.706298	0.61202	0	0.708844	0.79440	0	0.688494	0.62686	0	0.613276	0.41899	0	.	.	5.68	5.68	0.88021	2.759000	0.47253	7.612000	0.61951	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	15.630	0.76655	723	0.55174	.	.	.	.	.	.	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	551.54	26	chr10	117341050	.	C	T	551.54	.	AC=2;AF=0.2;AN=10;BaseQRankSum=-2.739;DP=377;ExcessHet=0.4139;FS=327.124;MLEAC=2;MLEAF=0.2;MQ=60;MQRankSum=0;QD=2.46;ReadPosRankSum=2.46;SOR=8.254	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:105,36:141:99:0|1:117341048_C_T:292,0,3027:117341048	3	0	2	2
chr10	117374710	117374710	T	G	exonic	PDZD8	.	nonsynonymous SNV	PDZD8:NM_173791:exon1:c.A518C:p.E173A	.	423	1094	5	0	0	5	0.00227998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.180	0.108729845372	.	.	0.0001	0	0	0	0	0.0002	0	0.0002	5.17e-05	8	154602	rs747884937	4.744e-05	4.72e-05	3.555e-05	5.945e-05	0.0047	3.813e-05	3.493e-05	0.0033	0.0029	0	4.595e-05	0	2.534e-05	0	0.0047	9.015e-07	9.996e-05	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.47320	D	0.052	0.47581	T	0.421	0.35387	B	0.058	0.26451	B	0.022506	0.26620	N	0.264750	0.997104	0.43633	D	1.39	0.34934	L	-2.07	0.85943	D	-1.69	0.40274	N	0.243	0.27435	-0.4305	0.71051	T	0.396	0.74901	T	10	0.13741705	0.26140	T	0.10873	0.78539	D	0.180	0.45073	0.152	0.05544	0.625853619743	0.62280	0.8189421570557286	0.81851	0.901521795493	0.70657	0.668886065483	0.62679	T	0.005803	0.05248	T	-0.238086	0.15593	T	-0.300335	0.44690	T	0.0318067706888914	0.02274	T	0.683732	0.29211	T	0.1096128	0.25914	0.1023334	0.24522	0.1096128	0.25914	0.1023334	0.24522	-2.818	0.08350	T	.	.	0.099	0.16843	B	.	.	3.102591	0.41819	21.4	0.99177186519648353	0.54556	0.83677	0.42779	D	AEFDGBHCI	0.284676	0.39748	N	-0.275770478908955	0.30088	1.674392	-0.271983151202961	0.29024	1.622923	0.999999674095516	0.74766	0.766844	0.99359	0	0.484254	0.07192	0	0.851219	0.99655	0	0.404113	0.06833	1	.	.	4.24	3.06	0.34374	3.903000	0.56031	3.304000	0.37407	0.661000	0.55757	1.000000	0.71638	0.998000	0.33993	0.270000	0.23768	0.0:0.0:0.2193:0.7807	7.524	0.26811	719	0.55657	Synaptotagmin-like mitochondrial-lipid-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	.	.	.	.	.	.	.	.	0.07143	1277.46	34	chr10	117374710	.	T	G	1277.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.645;DP=272;ExcessHet=0;FS=0.78;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.45;ReadPosRankSum=0.198;SOR=0.544	GT:AD:DP:GQ:PL	0/1:44,51:95:99:1288,0,1227	6	0	1	0
chr10	120354721	120354721	G	A	exonic	RPL21	.	nonsynonymous SNV	RPL21:NM_000982:exon1:c.C463T:p.P155S	Hypotrichosis 12, Autosomal dominant	336	1183	1	2	0	5	0.00210881	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001358	21	154602	rs879592877	0.0022	0.0020	0.0023	0.0021	0.0057	0.0021	0.0020	0.0036	0.0030	0.0006	0.0005	0.0002	0	0.0008	0.0057	0.0032	0.0022	0.0001	0.0020	0.0020	0.0020	0.0020	0.0037	0.0018	0.0018	0.0033	0.0032	0.0007	0	0.0012	0	0	0.0003	0.0034	0.0037	0.0010	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	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	0	0	.	.	.	.	.	.	.	.	0.08333	98.3	10	chr10	120354721	.	G	A	98.3	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.444;DP=56;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=49.1;MQRankSum=-1.282;QD=12.29;ReadPosRankSum=0.272;SOR=0.693	GT:AD:DP:GQ:PL	0/1:4,4:8:99:108,0,110	5	0	1	1
chr10	122833698	122833698	C	T	exonic	CUZD1	.	nonsynonymous SNV	CUZD1:NM_022034:exon8:c.G1625A:p.R542K	.	432	1088	2	0	0	2	0.000918274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.00545657802026	0.0002	0.000199681	0.0006	0	8.639e-05	0.0016	0.0027	0.0005	0	0.0003	0.0004592	71	154602	rs144406058	0.0003	0.0003	0.0003	0.0003	0.0015	0.0003	0.0003	0.0012	0.0011	2.988e-05	0	0.0005	0.0015	0.0022	0.0002	0.0002	0.0005	0.0004	0.0004	0.0004	0.0003	0.0006	0.0017	0.0003	0.0003	0.0009	0.0007	0	0	0	0.0012	0.0017	0.0024	0	0.0004	0.0005	0.0006	0.102	0.30235	T	0.26	0.23029	T	0.068	0.23728	B	0.014	0.16862	B	0.039019	0.24219	N	0.463064	1	0.08975	N	2.015	0.55033	M	1.1	0.39050	T	-0.32	0.12283	N	0.126	0.11912	-1.0202	0.23649	T	0.055	0.23262	T	10	0.004857838	0.00104	T	0.005457	0.14045	T	0.024	0.04979	.	.	0.36355261348	0.35965	0.1987745128889033	0.19794	0.0645436709737	0.07206	.	.	.	0.059891	0.31238	T	-0.53029	0.00382	T	-0.547732	0.17545	T	0.0184819307307244	0.00564	T	0.537746	0.18100	T	0.093723334	0.22019	0.07751926	0.17277	0.093723334	0.22019	0.07751926	0.17277	-3.075	0.11011	T	.	.	0.08	0.07793	B	.;.	.;.	1.518560	0.19502	14.29	0.95991941580403084	0.28388	0.06414	0.12418	N	AEFBI	0.068384	0.13489	N	-0.748470824154182	0.14675	0.733019	-0.668358340746405	0.17754	0.9454264	0.0048870964803403	0.10750	0.67177	0.52595	0	0.588066	0.40923	0	0.702456	0.68683	0	0.528226	0.09195	0	.	.	5.1	2.05	0.25860	-0.559000	0.06062	.	.	0.599000	0.40250	0.000000	0.06391	0.768000	0.26677	0.954000	0.50415	0.0:0.5793:0.1374:0.2834	6.127	0.19405	955	0.09969	.;.	.	.	.	.	.	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	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	1189.63	33	chr10	122833698	.	C	T	1189.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.475;DP=259;ExcessHet=0;FS=1.829;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.83;ReadPosRankSum=-2.076;SOR=0.954	GT:AD:DP:GQ:PL	0/1:36,50:86:99:1200,0,848	6	0	1	0
chr10	122841248	122841248	T	C	exonic	CUZD1	.	nonsynonymous SNV	CUZD1:NM_022034:exon2:c.A163G:p.S55G	.	425	1094	3	0	0	3	0.00136924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	.	0.0005	0.00259585	0.0020	0.0002	0.0003	0.0170	0.0054	0.0007	0.0011	0.0008	0.0018046	279	154602	rs141881176	0.0009	0.0009	0.0009	0.0009	0.0137	0.0008	0.0008	0.0127	0.0123	5.975e-05	0.0002	0.0005	0.0137	0.0046	0.0002	0.0002	0.0020	0.0014	0.0013	0.0013	0.0009	0.0017	0.0156	0.0011	0.0011	0.0129	0.0119	0.0001	0	0.0003	0.0012	0.0156	0.0045	0	0.0005	0.0019	0.0027	0.039	0.42487	D	0.051	0.47828	T	0.019	0.17989	B	0.024	0.20255	B	0.088612	0.02431	N	1.962370	1	0.08975	N	0.935	0.23595	L	1.35	0.34648	T	-0.2	0.10136	N	0.127	0.12055	-0.9766	0.35772	T	0.042	0.18076	T	10	0.003978342	0.00077	T	.	.	.	0.034	0.08419	.	.	0.371344866733	0.36741	0.21859629201676883	0.21775	0.0788483161384	0.08873	.	.	.	0.049768	0.28402	T	-0.616603	0.00115	T	-0.644204	0.09365	T	0.0116667562601844	0.00178	T	0.471453	0.13989	T	0.05675521	0.11207	0.07873136	0.17660	0.05675521	0.11207	0.07873136	0.17659	-2.626	0.06703	T	.	.	0.09	0.12607	B	.;.	.;.	0.792409	0.11628	8.215	0.9749633516365126	0.34272	0.02118	0.06262	N	AEFGBI	0.065849	0.12864	N	-1.07630793989911	0.07082	0.3279443	-1.08300120001307	0.08035	0.393328	0.988875390907366	0.31655	0.706298	0.61202	0	0.547309	0.14657	0	0.709663	0.75317	0	0.567892	0.33627	0	.	.	5.57	-4.03	0.03752	-0.663000	0.05398	.	.	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.860000	0.40782	0.0:0.5035:0.0:0.4965	13.547	0.61169	925	0.17918	CUB domain|CUB domain|CUB domain|CUB domain;CUB domain|CUB domain|CUB domain|CUB 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	1086.53	33	chr10	122841248	.	T	C	1086.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.711;DP=267;ExcessHet=0;FS=2.783;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.07;ReadPosRankSum=-1.822;SOR=0.821	GT:AD:DP:GQ:PL	0/1:43,47:90:99:1097,0,945	6	0	1	0
chr10	122983003	122983003	G	C	exonic	PSTK	.	nonsynonymous SNV	PSTK:NM_001363531:exon2:c.G487C:p.V163L,PSTK:NM_153336:exon2:c.G487C:p.V163L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.217	0.00704594610802	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.48642	T	0.192	0.33554	T	0.004	0.12183	B	0.022	0.19653	B	0.000010	0.62929	D	0.064498	0.958085	0.38057	D	1.76	0.45711	L	2.91	0.10008	T	-0.84	0.22944	N	0.669	0.67736	-1.0661	0.10293	T	0.029	0.12585	T	10	0.50841606	0.61954	D	0.007046	0.18676	T	0.217	0.51112	0.724	0.85850	0.349647731962	0.34572	0.6258530157450021	0.62518	0.263583704205	0.28913	0.645784556866	0.59386	T	0.019375	0.15446	T	-0.000810022	0.51544	T	-0.23894	0.50901	T	0.890971660614014	0.54186	D	0.877812	0.59215	D	0.22272539	0.44877	0.21593522	0.46201	0.22272539	0.44877	0.21593522	0.46200	-10.869	0.78934	D	.	.	0.647	0.71035	P	.;.;.	.;.;.	3.675766	0.52298	23.2	0.99376505445614849	0.61671	0.97325	0.74040	D	AEFBI	0.695338	0.65404	D	-0.0452252440071354	0.39816	2.354205	0.149695039779814	0.47125	2.947556	0.999999870920904	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.44	5.44	0.79348	6.097000	0.71099	.	.	0.650000	0.52971	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	16.179	0.81701	926	0.17793	.;.;.	.	.	.	.	.	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	180.29	52	chr10	122983003	.	G	C	180.29	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-0.551;DP=476;ExcessHet=3.1439;FS=169.002;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=0.63;ReadPosRankSum=0.185;SOR=10.163	GT:AD:DP:GQ:PL	0/1:62,23:103:12:12,0,942	2	0	4	1
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|1:102,38:140:99:0|1:124989533_G_A:1256,0,4006:124989533	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	0/1:127,27:154:99:521,0,4298	1	0	6	0
chr10	124989579	124989579	G	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon9:c.C1481G:p.A494G,CTBP2:NM_022802:exon9:c.C2897G:p.A966G,CTBP2:NM_001321013:exon10:c.C1277G:p.A426G,CTBP2:NM_001083914:exon11:c.C1277G:p.A426G,CTBP2:NM_001290214:exon11:c.C1277G:p.A426G,CTBP2:NM_001290215:exon11:c.C1277G:p.A426G,CTBP2:NM_001321012:exon11:c.C1277G:p.A426G,CTBP2:NM_001321014:exon11:c.C1277G:p.A426G,CTBP2:NM_001329:exon11:c.C1277G:p.A426G	.	436	984	100	2	0	104	0.0501931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.523	0.0686986444289	.	.	.	.	.	.	.	.	.	.	6.47e-05	10	154602	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.68238	D	0.102	0.48594	T	0.939	0.77913	P	0.656	0.73362	P	0.001392	0.39175	N	0.252302	0.999998	0.58761	D	1.975	0.53506	M	-1.82	0.85003	D	-1.94	0.45042	N	0.486	0.62781	0.438	0.89660	D	0.671	0.88602	D	10	0.37102997	0.53476	T	0.068699	0.70524	D	0.523	0.79765	0.146	0.04941	0.760411053773	0.75822	0.4168685752787953	0.41602	1.88731367476	0.92685	0.701414048672	0.67348	T	0.299078	0.67161	T	0.208989	0.74736	D	0.0624214	0.74406	D	0.93170565366745	0.59725	D	0.741926	0.36245	T	0.23596977	0.46441	0.21558693	0.46153	0.23596977	0.46441	0.21558693	0.46152	-4.06	0.25701	T	.	.	0.324	0.54775	B	.;.;.;.;.;.	.;.;.;.;.;.	5.064118	0.84424	28.3	0.99719618450600933	0.81914	0.96716	0.70558	D	AEFDGBCI	0.937767	0.93600	D	0.680611287748224	0.78361	6.856259	0.718927581574258	0.83819	8.122182	1.0	0.98316	0.722319	0.85440	0	0.00446	0.00028	3	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.12	5.12	0.69459	9.506000	0.96988	9.922000	0.82512	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.939000	0.47918	0.0:0.0:1.0:0.0	18.759	0.91807	940	0.13648	.;.;.;.;.;.	.	.	.	.	.	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	97.02	60	chr10	124989579	.	G	C	97.02	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-1.474;DP=673;ExcessHet=0.3476;FS=4.592;MLEAC=1;MLEAF=0.083;MQ=54.3;MQRankSum=-6.369;QD=0.36;ReadPosRankSum=-2.264;SOR=0.374	GT:AD:DP:GQ:PL	0/1:138,17:155:99:105,0,3647	4	0	2	1
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|1:150,36:186:99:0|1:124994489_T_G:1060,0,6150:124994489	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|1:151,41:192:99:0|1:124994489_T_G:1263,0,6197:124994489	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|1:151,43:194:99:0|1:124994489_T_G:1340,0,6152:124994489	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|1:151,52:203:99:0|1:124994523_G_A:1597,0,6001:124994523	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	0/1:145,52:197:99:867,0,4015	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	0/1:151,55:206:99:872,0,4187	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|1:150,64:214:99:0|1:124994577_C_A:2206,0,5946:124994577	0	0	7	0
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|1:94,8:102:52:0|1:125003006_T_C:52,0,3882:125003006	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|1:96,8:104:46:0|1:125003006_T_C:46,0,3926:125003006	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|1:94,8:102:52:0|1:125003006_T_C:52,0,3882:125003006	3	0	3	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|1:85,8:93:59:0|1:125003062_T_A:59,0,3517:125003062	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|1:85,8:93:59:0|1:125003062_T_A:59,0,3517:125003062	2	0	4	1
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|1:88,8:96:71:0|1:125003381_AC_A:71,0,3627:125003381	2	0	5	0
chr10	125026481	125026481	C	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_022802:exon1:c.G1279A:p.G427S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.130	0.0464020825168	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1220937197	3.452e-06	4.104e-06	1.369e-06	5.571e-06	1.17e-05	1.01e-06	7.4e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.72e-06	1.677e-05	1.17e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.298	0.14595	T	0.866	0.03352	T	0.001	0.07471	B	0.003	0.08700	B	0.857793	0.08917	N	0.914285	1	0.08975	N	.	.	.	-1.65	0.82625	D	-0.13	0.08971	N	0.1	0.08227	-0.8530	0.51760	T	0.299	0.67017	T	9	0.07425532	0.11326	T	0.046402	0.62442	D	0.130	0.35528	0.137	0.04097	0.39864871254	0.39479	0.25837417294265497	0.25751	0.114889616539	0.12965	0.496607422829	0.38354	T	.	.	.	-0.101673	0.36147	T	-0.383823	0.35275	T	0.0859812870621681	0.10734	T	0.50185	0.15733	T	.	.	.	.	.	.	.	.	-2.796	0.08147	T	.	.	0.082	0.08560	B	.	.	1.664200	0.21222	15.10	0.96689435360712239	0.30730	0.09798	0.15472	N	AEFBCI	0.048702	0.08338	N	-0.849799369303216	0.12055	0.5852998	-0.884821861941347	0.12453	0.6406584	0.999820420139951	0.43622	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.714379	0.83352	0	.	.	3.95	2.08	0.26079	0.498000	0.22238	2.331000	0.32195	0.549000	0.26987	0.004000	0.16614	0.014000	0.20376	0.089000	0.17737	0.0:0.5854:0.0:0.4146	6.561	0.21685	915	0.20917	.	.	.	.	.	.	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	395.63	27	chr10	125026481	.	C	T	395.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.37;DP=224;ExcessHet=0;FS=3.817;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=6.49;ReadPosRankSum=-2.228;SOR=0.524	GT:AD:DP:GQ:PL	0/1:42,19:61:99:406,0,1007	6	0	1	0
chr10	125725688	125725688	T	G	exonic	EDRF1	.	nonsynonymous SNV	EDRF1:NM_001202438:exon6:c.T642G:p.N214K,EDRF1:NM_015608:exon6:c.T642G:p.N214K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.198	0.00642898600588	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.517	0.10623	T	0.236	0.24694	T	0.998	0.73220	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	0.99983	0.49637	D	1.21	0.30464	L	.	.	.	-0.15	0.09297	N	0.885	0.88356	-1.0177	0.24463	T	0.077	0.30859	T	9	0.6298068	0.68451	D	0.006429	0.16927	T	0.198	0.48105	0.409	0.44395	0.478222008075	0.47454	0.5410329179227342	0.54028	1.26243223783	0.82077	.	.	.	0.014336	0.12223	T	-0.0498051	0.44478	T	-0.309318	0.43732	T	0.672710478305817	0.39459	D	0.938306	0.76795	D	0.07670945	0.17367	0.10674878	0.25686	0.07670945	0.17366	0.10674878	0.25685	-2.626	0.09396	T	.	.	0.479	0.67694	A	.;.	.;.	3.565727	0.50190	22.9	0.99337690922260236	0.60051	0.98689	0.85611	D	AEFBI	0.387598	0.46752	N	-0.160051034084586	0.34809	1.991385	-0.114478193647137	0.34807	2.006316	0.774539732105523	0.23729	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	4.85	1.12	0.19700	2.431000	0.44433	-0.030000	0.12807	0.665000	0.62972	1.000000	0.71638	0.915000	0.28207	0.995000	0.73285	0.0:0.2183:0.0:0.7817	8.953	0.34963	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	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	949.27	24	chr10	125725688	.	T	G	949.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.142;DP=205;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.09;ReadPosRankSum=0.729;SOR=0.586	GT:AD:DP:GQ:PL	0/1:22,37:59:99:959,0,528	5	0	1	1
chr10	128103845	128103845	C	A	exonic	MKI67	.	nonsynonymous SNV	MKI67:NM_001145966:exon12:c.G6915T:p.R2305S,MKI67:NM_002417:exon13:c.G7995T:p.R2665S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.00304000781951	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.84e-07	6.84e-07	1.361e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.37966	T	0.076	0.42614	T	0.02	0.18235	B	0.023	0.19966	B	0.068037	0.02218	N	2.335820	1	0.08975	N	1.545	0.39105	L	4.34	0.02341	T	-0.94	0.25118	N	0.124	0.22098	-0.9184	0.45770	T	0.009	0.03403	T	10	0.053896427	0.05653	T	0.00304	0.06547	T	0.030	0.07022	0.467	0.53891	0.0986583533028	0.09354	0.05316243130698162	0.05258	0.0538137297912	0.05943	0.222512871027	0.01460	T	0.007769	0.07155	T	-0.261519	0.12723	T	-0.613431	0.11708	T	0.123242326080799	0.14744	T	0.50155	0.16142	T	0.16738437	0.37132	0.06672539	0.13707	0.16738437	0.37132	0.06672539	0.13707	-8.265	0.62861	D	.	.	0.487	0.63997	A	.;.	.;.	1.294319	0.16952	12.87	0.95841820495715901	0.27968	0.04637	0.10304	N	AEFBCI	0.036615	0.04908	N	-1.1269313518103	0.06168	0.2832149	-1.21590134363242	0.05654	0.2699915	0.999605903124332	0.40866	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	2.4	-0.597	0.11069	-0.229000	0.09106	-2.180000	0.04096	0.530000	0.24713	0.000000	0.06391	0.000000	0.08366	0.059000	0.15899	0.4339:0.3447:0.2213:0.0	3.996	0.09050	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	0	0	.	.	.	.	.	.	.	.	0.07143	2778.44	90	chr10	128103845	.	C	A	2778.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.857;DP=809;ExcessHet=0;FS=0.508;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.36;ReadPosRankSum=1.36;SOR=0.762	GT:AD:DP:GQ:PL	0/1:99,109:208:99:2789,0,2620	6	0	1	0
chr10	131970666	131970666	G	A	exonic	BNIP3	.	nonsynonymous SNV	BNIP3:NM_004052:exon5:c.C706T:p.L236F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.238	0.00838545504326	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	6.57e-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	.	.	.	0.191	0.43721	T	.	.	.	.	.	.	0.000120	0.50451	D	0.147023	0.999994	0.58761	D	.	.	.	.	.	.	.	.	.	0.602	0.62018	-0.2121	0.77359	T	0.400	0.75130	T	9	0.41379318	0.56404	T	0.008385	0.22181	T	0.238	0.54217	.	.	0.500994481783	0.49735	0.7413383291708545	0.74079	1.09635788658	0.77590	0.638146281242	0.58300	T	.	.	.	0.0403246	0.57090	T	-0.179853	0.56537	T	0.949204385280609	0.63062	D	0.939006	0.77019	D	0.1524084	0.34598	0.15168965	0.35721	0.1524084	0.34597	0.15168965	0.35720	-9.261	0.69362	D	.	.	0.42	0.60667	A	.;.	.;.	4.232503	0.64109	24.7	0.99833933437728273	0.91542	0.86824	0.46190	D	AEFDBCI	0.298286	0.40764	N	0.509261380632509	0.67634	5.108092	0.447473131187209	0.64554	4.713309	0.999388797983373	0.39415	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.3	4.3	0.50540	1.356000	0.33683	9.651000	0.81171	0.672000	0.70159	0.999000	0.42656	1.000000	0.68203	0.904000	0.43992	0.0:0.0:1.0:0.0	17.659	0.88088	955	0.09969	.;.	.	.	.	.	.	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	83.23	33	chr10	131970666	.	G	A	83.23	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-4.094;DP=723;ExcessHet=0;FS=144.906;MLEAC=1;MLEAF=0.083;MQ=59.75;MQRankSum=0.352;QD=0.3;ReadPosRankSum=2.63;SOR=9.27	GT:AD:DP:GQ:PL	0/1:204,74:278:93:93,0,3534	5	0	1	1
chr10	131981872	131981872	G	A	exonic	BNIP3	.	nonsynonymous SNV	BNIP3:NM_004052:exon1:c.C130T:p.P44S	.	403	1098	19	2	0	23	0.010365	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00459265	.	.	.	.	.	.	.	.	0.0033041	86	26028	rs572410005	0.0041	0.0044	0.0034	0.0048	0.0277	0.0040	0.0039	0.0265	0.0261	0.0007	0.0009	0.0023	3.661e-05	0.0277	0.0050	0.0023	0.0035	0.0277	0.0054	0.0054	0.0032	0.0077	0.0190	0.0051	0.0049	0.0159	0.0147	0.0004	0	0.0006	0.0012	0.0002	0.0467	0.0034	0.0028	0.0019	0.0190	.	.	.	0.07	0.43721	T	.	.	.	.	.	.	.	.	.	.	0.999916	0.19599	N	.	.	.	.	.	.	.	.	.	0.07	0.04307	.	.	.	.	.	.	.	0.0038288534	0.00072	T	.	.	.	.	.	.	.	.	.	0.2150976367720552	0.21425	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.352165	0.08539	T	0.023533164	0.01101	0.062835746	0.12354	0.023533164	0.01101	0.062835746	0.12354	-4.085	0.25068	T	.	.	0.075	0.05491	B	.;.	.;.	0.285013	0.06619	3.111	0.91888445491352655	0.21207	0.15096	0.18742	N	ALL	.	.	.	.	.	.	.	.	.	0.999999999842911	0.74766	0.255962	0.04286	0	0.098	0.03038	0	0.217501	0.04623	0	0.159066	0.04077	0	0.124127	0.25079	2.77	-5.54	0.02343	-3.767000	0.00418	-5.246000	0.01791	-1.323000	0.01224	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2517:0.299:0.2083:0.241	0.368	0.00348	968	0.07033	.;.	.	.	.	.	.	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	650.27	25	chr10	131981872	.	G	A	650.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.575;DP=210;ExcessHet=0;FS=1.07;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.75;ReadPosRankSum=0.19;SOR=0.906	GT:AD:DP:GQ:PL	0/1:22,29:51:99:660,0,526	5	0	1	1
chr10	132878077	132878077	A	G	exonic	CFAP46	.	nonsynonymous SNV	CFAP46:NM_001200049:exon30:c.T4016C:p.M1339T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.00831835880868	.	0.000399361	0.0007	0	0	0	0	0	0	0.0016	9.06e-05	14	154602	rs568720350	8.385e-05	8.003e-05	3.957e-05	0.0001	0.0014	7.124e-05	6.657e-05	0.0012	0.0011	0	0	0	0	0	0.0002	9.279e-07	8.641e-05	0.0014	5.923e-05	5.913e-05	0	0.0001	0.0019	3.082e-05	2.213e-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	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.1	0.08283	T	0.54	0.02764	N	0.042	0.01498	-0.9628	0.38645	T	0.039	0.16763	T	6	0.008067936	0.00183	T	0.008318	0.22029	T	0.010	0.01040	0.356	0.35734	0.0138822411134	0.00435	0.037289757961124534	0.03675	0.125826400157	0.14181	0.342087209225	0.16751	T	0.002772	0.02166	T	-0.749152	0.00018	T	-0.867896	0.00762	T	0.0174816203769544	0.00484	T	0.328467	0.06836	T	0.032960474	0.03421	0.109342955	0.26352	0.032960474	0.03420	0.109342955	0.26351	-0.886	0.00882	T	.	.	0.097	0.15966	B	.	.	-1.231838	0.00500	0.011	0.18402929762225825	0.00577	0.00826	0.03330	N	AEFBI	0.026414	0.01980	N	-1.35163426376618	0.03108	0.1383115	-1.56087499145107	0.01902	0.08675116	5.73476432677801E-4	0.07363	0.580535	0.33130	0	0.573888	0.26702	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	3.09	-4.99	0.02785	-0.836000	0.04489	-2.043000	0.04299	-0.745000	0.03636	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.3087:0.0:0.6913:0.0	11.751	0.51117	994	0.00715	.	.	.	.	.	.	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	723.54	30	chr10	132878077	.	A	G	723.54	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.216;DP=197;ExcessHet=0;FS=1.116;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.47;ReadPosRankSum=-0.347;SOR=0.48	GT:AD:DP:GQ:PL	0/1:20,30:50:99:734,0,475	6	0	1	0
chr11	615282	615282	A	G	exonic	IRF7	.	nonsynonymous SNV	IRF7:NM_004031:exon2:c.T37C:p.S13P	.	396	1124	2	0	0	2	0.000888889	.	.	.	640198	Immunodeficiency_39|not_specified	MONDO:MONDO:0014597,MedGen:C4225358,OMIM:616345,Orphanet:574918|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.159	0.01264091558	.	.	0.0001	0	0	0	0	0.0002	0	0	3.88e-05	6	154602	rs750684733	5.82e-05	5.951e-05	5.004e-05	6.649e-05	0.0004	4.793e-05	4.408e-05	6.161e-05	4.796e-05	3.042e-05	2.379e-05	0	0	0	0.0004	6.464e-05	6.77e-05	4.762e-05	5.258e-05	5.254e-05	3.855e-05	6.726e-05	0.0001	2.558e-05	1.83e-05	3.762e-05	2.575e-05	0	0	0.0001	0	0	0	0	8.82e-05	0	0	0.0	0.91255	D	0.181	0.29346	T	0.0	0.02946	B	0.0	0.01387	B	0.000001	0.00162	N	48.322000	1	0.18198	N	.	.	.	-3.92	0.96078	D	-0.25	0.11008	N	0.103	0.13198	-0.1912	0.77898	T	0.577	0.84760	D	9	0.053250432	0.05485	T	0.012641	0.31390	T	0.159	0.41286	0.27	0.21893	0.210429274316	0.20668	0.21393844617507177	0.21309	0.132666713148	0.14947	.	.	.	0.007416	0.06827	T	-0.218353	0.18219	T	-0.303117	0.44394	T	0.675817549228668	0.39598	D	0.417258	0.10990	T	.	.	.	.	.	.	.	.	-2.529	0.05983	T	.	.	0.074	0.04975	B	.;.;.;.	.;.;.;.	0.521540	0.08901	5.683	0.91356833006911964	0.20621	0.00648	0.02824	N	AEFDGBCI	0.045999	0.07588	N	-1.51938454650321	0.01722	0.07538505	-1.58637284815453	0.01738	0.07904997	0.999999961800197	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.239995	0.05000	1	0.375	0.06713	1	.	.	3.52	-4.27	0.03486	0.161000	0.16298	-0.060000	0.12436	-0.249000	0.07183	0.001000	0.13787	0.001000	0.17328	0.001000	0.02609	0.4109:0.158:0.2712:0.1599	0.912	0.01214	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	0.001520	0.005155	0.001362	0.000000	0.000000	0.000000	0.003067	0.003788	0.07143	570.83	13	chr11	615282	.	A	G	570.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.691;DP=188;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.42;ReadPosRankSum=0.675;SOR=0.66	GT:AD:DP:GQ:PL	0/1:22,28:50:99:581,0,566	6	0	1	0
chr11	1018290	1018290	G	A	exonic	MUC6	.	nonsynonymous SNV	MUC6:NM_005961:exon31:c.C4511T:p.P1504L	.	414	746	107	2	253	364	0.0692452	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.00130114034182	.	.	0.0003	0.0006	0.0002	0.0001	0.0005	0.0003	0.0011	0	1.94e-05	3	154602	rs776891354	1.107e-05	3.01e-05	1.651e-05	5.562e-06	2.261e-05	6.55e-06	5.3e-06	8.17e-06	6.48e-06	0	2.261e-05	0	0	0	0	1.361e-05	0	0	0.0001	0.0098	0.0001	9.374e-05	0.0007	5.246e-05	3.934e-05	0.0001	5.226e-05	0.0001	0	0	0	0.0007	0	0	9.554e-05	0	0	0.087	0.32453	T	0.452	0.12884	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0.805	0.20218	L	2.32	0.16640	T	-0.07	0.08033	N	0.067	0.03956	-1.0134	0.25848	T	0.014	0.05465	T	9	0.022066832	0.00542	T	0.001301	0.01809	T	0.004	0.00165	.	.	0.141422826196	0.13715	0.17699347360380507	0.17618	0.090681263109	0.10232	0.182567775249	0.00120	T	0.011815	0.10487	T	-0.418061	0.01760	T	-0.838292	0.01125	T	0.0714186060218739	0.08849	T	.	.	.	0.023426026	0.01081	0.02954413	0.01305	0.023426026	0.01081	0.02954413	0.01304	-3.396	0.15003	T	.	.	0.071	0.04041	B	.	.	-1.051810	0.00700	0.020	0.59025517677381145	0.06128	0.00427	0.02100	N	AEFDGBI	0.028602	0.02550	N	-2.28884873487817	0.00048	0.002069904	-2.37477325509698	0.00045	0.001973028	0.999941380871367	0.47345	0.69289	0.55638	0	0.550933	0.16991	0	0.517114	0.09559	2	0.508809	0.08732	0	.	.	2.41	-4.82	0.02938	-5.543000	0.00137	-20.000000	0.00162	-5.324000	0.00012	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3114:0.1979:0.3276:0.1631	0.642	0.00759	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	.	.	.	.	.	.	.	.	0.1429	2064.7	188	chr11	1018290	.	G	A	2064.7	.	AC=2;AF=0.143;AN=14;BaseQRankSum=3.39;DP=1257;ExcessHet=4.7409;FS=16.239;MLEAC=2;MLEAF=0.143;MQ=55.67;MQRankSum=-9.645;QD=1.9;ReadPosRankSum=0.999;SOR=1.776	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:228,28:256:99:0|1:1018256_T_G:489,0,9489:1018256	5	0	2	0
chr11	1096155	1096155	C	0	exonic	MUC2	.	.	.	.	456	828	3	1	234	239	0.00301023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	976.35	430	chr11	1096155	.	C	*	976.35	.	AC=4;AF=0.333;AN=12;BaseQRankSum=0.973;DP=2845;ExcessHet=4.7409;FS=0;MLEAC=4;MLEAF=0.333;MQ=55.48;MQRankSum=2.2;QD=0.6;ReadPosRankSum=-3.121;SOR=0.712	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:490,67:557:99:.:.:926,0,19234:.	2	0	4	1
chr11	1096211	1096211	A	0	exonic	MUC2	.	.	.	.	606	732	15	0	169	184	0.010142	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.375	1141.48	348	chr11	1096211	.	A	*	1141.48	.	AC=3;AF=0.375;AN=8;BaseQRankSum=2.2;DP=2162;ExcessHet=2.5225;FS=0;MLEAC=4;MLEAF=0.5;MQ=57.51;MQRankSum=-4.444;QD=0.91;ReadPosRankSum=5.08;SOR=0.707	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:440,67:507:99:0|1:1096211_A_*:3941,0,17749:1096211	1	0	3	3
chr11	1096212	1096212	C	0	exonic	MUC2	.	.	.	.	603	738	12	0	169	181	0.00806452	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	1143.97	347	chr11	1096212	.	C	*	1143.97	.	AC=2;AF=0.333;AN=6;BaseQRankSum=2.57;DP=2166;ExcessHet=1.383;FS=1.392;MLEAC=3;MLEAF=0.5;MQ=57.51;MQRankSum=0.19;QD=1.26;ReadPosRankSum=6.99;SOR=0.85	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:440,67:507:99:0|1:1096211_A_*:3950,0,17742:1096211	1	0	2	4
chr11	1097057	1097057	A	G	exonic	MUC2	.	unknown	UNKNOWN	.	692	829	1	0	0	1	0.000602773	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1447147746	0.0020	0.0038	0.0019	0.0021	0.0023	0.0019	0.0019	0.0021	0.0021	0.0019	0.0010	0.0010	0.0011	0.0040	0.0004	0.0023	0.0017	0.0012	0.0007	0.0017	0.0007	0.0007	0.0010	0.0006	0.0005	0.0008	0.0007	0.0005	0	0.0006	0	0.0004	0.0006	0	0.0010	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	204.44	80	chr11	1097057	.	A	G	204.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.06;DP=391;ExcessHet=0;FS=3.808;MLEAC=1;MLEAF=0.071;MQ=35.08;MQRankSum=1.22;QD=2.13;ReadPosRankSum=0.499;SOR=1.313	GT:AD:DP:GQ:PL	0/1:79,17:96:99:215,0,2415	6	0	1	0
chr11	1097308	1097308	-	ACGGTGACCCCAACCCCAACACCCACTGGCACACAGACCCCAACCACAACAGCCATCACCACCACCACT	exonic	MUC2	.	unknown	UNKNOWN	.	646	865	11	0	0	11	0.00631821	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0022	0.0020	0.0020	0.0024	0.0112	0.0021	0.0021	0.0102	0.0098	0.0017	0.0027	0.0027	0.0112	0.0033	0.0023	0.0016	0.0026	0.0033	5.6e-05	8.507e-05	6.629e-05	4.543e-05	7.101e-05	2.136e-05	1.388e-05	1.883e-05	1.022e-05	4.239e-05	0	0	0	0	0.0002	0	7.101e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	941.68	196	chr11	1097308	.	C	CACGGTGACCCCAACCCCAACACCCACTGGCACACAGACCCCAACCACAACAGCCATCACCACCACCACT	941.68	.	AC=3;AF=0.214;AN=14;BaseQRankSum=0.728;DP=1177;ExcessHet=1.1394;FS=0;MLEAC=3;MLEAF=0.214;MQ=38.61;MQRankSum=1.84;QD=2;ReadPosRankSum=-3.48;SOR=0.761	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:101,5:109:99:.:.:542,0,3321:.	4	0	3	0
chr11	1097760	1097760	C	G	exonic	MUC2	.	unknown	UNKNOWN	.	656	862	4	0	0	4	0.00231481	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1455827500	0.0014	0.0035	0.0014	0.0015	0.0017	0.0014	0.0013	0.0014	0.0014	0.0017	0.0007	0.0007	0.0012	0.0032	0.0006	0.0015	0.0013	0.0008	0.0003	0.0005	0.0003	0.0003	0.0005	0.0002	0.0002	0.0003	0.0002	0.0003	0	0.0002	0	0	0.0003	0	0.0005	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	.	.	.	.	.	.	.	.	0.08333	54.23	126	chr11	1097760	.	C	G	54.23	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.078;DP=866;ExcessHet=0;FS=2.254;MLEAC=1;MLEAF=0.083;MQ=42.23;MQRankSum=-3.129;QD=0.23;ReadPosRankSum=-0.714;SOR=0.978	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:217,17:234:64:0|1:1097760_C_G:64,0,8916:1097760	5	0	1	1
chr11	1097761	1097761	C	T	exonic	MUC2	.	unknown	UNKNOWN	.	655	863	4	0	0	4	0.00231214	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1361308733	0.0015	0.0035	0.0014	0.0015	0.0016	0.0014	0.0013	0.0014	0.0014	0.0016	0.0007	0.0008	0.0011	0.0033	0.0006	0.0015	0.0014	0.0008	0.0003	0.0005	0.0004	0.0003	0.0005	0.0002	0.0002	0.0003	0.0002	0.0004	0	0.0002	0	0	0	0	0.0005	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	.	.	.	.	.	.	.	.	0.08333	57.23	126	chr11	1097761	.	C	T	57.23	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.196;DP=865;ExcessHet=0;FS=2.243;MLEAC=1;MLEAF=0.083;MQ=42.26;MQRankSum=-3.134;QD=0.25;ReadPosRankSum=-0.767;SOR=0.96	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:216,17:233:67:0|1:1097760_C_G:67,0,8874:1097760	5	0	1	1
chr11	1097762	1097762	C	A	exonic	MUC2	.	unknown	UNKNOWN	.	661	857	4	0	0	4	0.00232829	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1177200914	0.0015	0.0036	0.0015	0.0016	0.0017	0.0014	0.0014	0.0015	0.0014	0.0017	0.0007	0.0007	0.0012	0.0034	0.0006	0.0016	0.0014	0.0010	0.0004	0.0006	0.0004	0.0004	0.0010	0.0003	0.0002	0.0003	0.0003	0.0003	0	0.0002	0	0	0	0	0.0006	0	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	78.23	126	chr11	1097762	.	C	A	78.23	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.24;DP=856;ExcessHet=0;FS=1.061;MLEAC=1;MLEAF=0.083;MQ=41.99;MQRankSum=-3.126;QD=0.35;ReadPosRankSum=-0.435;SOR=0.884	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:209,17:226:88:0|1:1097760_C_G:88,0,8591:1097760	5	0	1	1
chr11	1097768	1097768	A	C	exonic	MUC2	.	unknown	UNKNOWN	.	713	805	4	0	0	4	0.00247831	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1423716618	0.0028	0.0036	0.0028	0.0027	0.0053	0.0026	0.0026	0.0042	0.0038	0.0053	0.0015	0.0014	0.0019	0.0052	0.0019	0.0028	0.0026	0.0023	0.0016	0.0023	0.0015	0.0018	0.0026	0.0011	0.0010	0.0011	0.0008	0.0022	0	0.0026	0	0	0.0043	0	0.0012	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	77.11	126	chr11	1097768	.	A	C	77.11	.	AC=1;AF=0.1;AN=10;BaseQRankSum=1.85;DP=823;ExcessHet=0;FS=1.169;MLEAC=1;MLEAF=0.1;MQ=42.28;MQRankSum=-2.321;QD=0.41;ReadPosRankSum=-0.486;SOR=0.843	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:174,15:189:86:0|1:1097760_C_G:86,0,7228:1097760	4	0	1	2
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	0/1:0,241:339:99:.:.:9573,3436,3327:.	5	0	2	0
chr11	1248327	1248327	C	T	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon31:c.C11447T:p.T3816M	.	434	1079	9	0	0	9	0.00415321	.	.	.	2227925	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.066	0.00485645972326	.	0.00139776	0.0016	0.0002	0.0010	0.0015	0.0029	0.0018	0.0012	0.0016	0.0001229	19	154602	rs201948297	0.0028	0.0030	0.0029	0.0027	0.0066	0.0027	0.0027	0.0050	0.0044	0.0005	0.0017	0.0027	0.0007	0.0016	0.0066	0.0031	0.0025	0.0018	0.0016	0.0017	0.0015	0.0017	0.0023	0.0014	0.0014	0.0020	0.0019	0.0004	0	0.0022	0.0017	0.0004	0.0018	0.0034	0.0023	0.0024	0.0011	0.197	0.20607	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.845	0.48678	L	2.09	0.20122	T	-0.5	0.15782	N	0.028	0.00618	-1.0589	0.12032	T	0.054	0.22959	T	9	0.008440405	0.00191	T	0.004856	0.12161	T	0.066	0.19193	.	.	0.043077524339	0.03247	0.27986162754402993	0.27899	.	.	0.191385239363	0.00250	T	0.035321	0.23671	T	-0.6685	0.00056	T	-0.739815	0.03898	T	0.0207374325317446	0.00773	T	0.368563	0.08641	T	0.013436387	0.00059	0.026994731	0.00822	0.013436387	0.00059	0.026994731	0.00822	-8.743	0.66027	D	.	.	0.115	0.23183	B	.	.	-0.150960	0.03351	0.592	0.49371029527055171	0.04199	0.02152	0.06328	N	AEFI	0.052130	0.09276	N	-0.686384343782334	0.16408	0.8357438	-1.00506885666809	0.09673	0.482642	3.11286626288464E-4	0.06498	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.01	-5.39	0.02457	-3.773000	0.00416	-7.730000	0.01097	-3.191000	0.00112	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2768:0.3513:0.273:0.0989	2.469	0.04281	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	0.001057	0.000000	0.000000	0.000000	0.000000	0.008621	0.003049	0.000000	0.07143	2061.45	41	chr11	1248327	.	C	T	2061.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.915;DP=433;ExcessHet=0;FS=4.181;MLEAC=1;MLEAF=0.071;MQ=44.97;MQRankSum=1.86;QD=10.85;ReadPosRankSum=0.585;SOR=1.003	GT:AD:DP:GQ:PL	0/1:100,90:190:99:2072,0,2404	6	0	1	0
chr11	1630164	1630223	CTGTGGCTCCTGTGGGGGGTCCAAGGGGGGCTGTGGCTCCTGTGGGGGGTCCAAGGGGGG	-	exonic	KRTAP5-5	.	nonframeshift deletion	KRTAP5-5:NM_001001480:exon1:c.324_383del:p.C132_Y218delinsYGCSQSSCCKPCCCSSGCGSSCCQSSCCKPYCCQSSCCKPYCCQSSCCKPCSCFSGCGSSCCQSSCYKPCCCQSSCCVPVCCQCKI*	.	452	1018	30	9	13	61	0.0230326	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.621e-06	0	0	0	0	1.564e-05	0	0	.	.	.	.	0.0025	0.0025	0.0023	0.0027	0.0078	0.0024	0.0024	0.0070	0.0067	0.0078	0.0033	0.0093	0.0001	0.0010	0.0059	0.0020	0.0044	0.0048	0.0009	0.0043	0.0009	0.0008	0.0016	0.0007	0.0006	0.0012	0.0010	0.0016	0	0.0003	0.0020	0	0	0.0085	0.0006	0.0030	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	713.89	37	chr11	1630163	.	CCTGTGGCTCCTGTGGGGGGTCCAAGGGGGGCTGTGGCTCCTGTGGGGGGTCCAAGGGGGG	C	713.89	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.511;DP=276;ExcessHet=0;FS=2.715;MLEAC=1;MLEAF=0.083;MQ=59.31;MQRankSum=-0.496;QD=32.45;ReadPosRankSum=-0.249;SOR=0.197	GT:AD:DP:GQ:PL	0/1:5,13:18:99:539,0,146	5	0	1	1
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	0/1:102,96:198:99:2149,0,2366	4	0	3	0
chr11	3639026	3639026	C	A	exonic	ART5	.	nonsynonymous SNV	ART5:NM_001297668:exon3:c.G593T:p.R198M,ART5:NM_053017:exon3:c.G797T:p.R266M,ART5:NM_001079536:exon4:c.G797T:p.R266M	.	412	1080	27	3	0	33	0.0150479	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	.	0.0052	0.00239617	0.0084	0.0014	0.0082	0	0.0182	0.0100	0.0099	0.0096	0.0039133	605	154602	rs148523079	0.0074	0.0073	0.0072	0.0076	0.0091	0.0073	0.0073	0.0084	0.0081	0.0013	0.0032	0.0086	2.789e-05	0.0077	0.0091	0.0079	0.0072	0.0089	0.0057	0.0056	0.0053	0.0061	0.0077	0.0053	0.0052	0.0072	0.0070	0.0014	0.0362	0.0052	0.0075	0	0.0084	0.0034	0.0077	0.0066	0.0068	0.059	0.53900	T	0.1	0.48594	T	0.878	0.48285	P	0.326	0.41929	B	0.549060	0.05359	N	1.257310	0.979421	0.25183	N	1.625	0.41611	L	3.06	0.10008	T	-1.23	0.33197	N	0.582	0.60325	-1.0133	0.25880	T	0.018	0.07565	T	10	0.002125442	0.00031	T	.	.	.	0.064	0.18567	.	.	0.250039746154	0.24611	0.4551377429819848	0.45431	0.170774591595	0.19242	0.343140482903	0.16907	T	0.020565	0.16172	T	-0.501183	0.00563	T	-0.482303	0.24202	T	0.0152994873952525	0.00339	T	0.39826	0.21221	T	0.07419399	0.16632	0.05595085	0.09910	0.07419399	0.16631	0.05595085	0.09910	-5.488	0.41756	T	.	.	0.173	0.38853	B	.;.;.;.	.;.;.;.	3.273964	0.44829	22.0	0.93760083239786562	0.23706	0.58645	0.30697	D	AEFDGBI	0.107929	0.21488	N	-0.0969218596645108	0.37526	2.184568	-0.0179649638805516	0.38905	2.298789	0.13553382904724	0.17174	0.615465	0.37627	0	0.627178	0.54094	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	5.87	2.45	0.28953	0.353000	0.19868	0.768000	0.21372	0.596000	0.33519	0.225000	0.24590	0.239000	0.23838	0.977000	0.56843	0.1947:0.5786:0.0:0.2266	3.499	0.07229	836	0.38045	.;.;.;.	.	.	.	.	.	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	0.009494	0.010638	0.002865	0.003030	0.000000	0.018182	0.016340	0.019084	0.07143	1649.44	39	chr11	3639026	.	C	A	1649.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.43;DP=329;ExcessHet=0;FS=0.641;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.4;ReadPosRankSum=1.16;SOR=0.608	GT:AD:DP:GQ:PL	0/1:65,68:133:99:1660,0,1419	6	0	1	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|1:154,47:201:99:0|1:5351789_C_G:290,0,4835:5351789	2	0	3	2
chr11	5968364	5968364	G	A	exonic	OR56A5	.	nonsynonymous SNV	OR56A5:NM_001146033:exon1:c.C131T:p.A44V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.006e-05	0	0	0	0.0002	1.554e-05	0	0.0003	4.53e-05	7	154602	rs749176682	4.721e-05	4.72e-05	3.54e-05	5.914e-05	0.0005	3.794e-05	3.476e-05	0.0002	0.0002	0	0	0	0	0	0.0005	3.508e-05	4.969e-05	0.0003	5.911e-05	5.906e-05	2.57e-05	9.403e-05	0.0008	3.076e-05	2.209e-05	0.0003	0.0002	2.407e-05	0	0	0	0	9.418e-05	0	4.411e-05	0	0.0008	.	.	.	0.005	0.72224	D	0.999	0.77913	D	0.997	0.86255	D	.	.	.	.	.	.	.	1.52	0.38360	L	.	.	.	.	.	.	0.136	0.13341	.	.	.	.	.	.	.	0.28356808	0.45937	T	.	.	.	.	.	.	.	0.201204373187	0.19734	0.3655866613539852	0.36472	.	.	0.303101241589	0.10864	T	0.015169	0.12778	T	-0.241686	0.15135	T	-0.288749	0.45902	T	.	.	.	0.970303	0.89317	D	0.07534457	0.16968	0.2862833	0.54636	0.07534457	0.16967	0.2862833	0.54635	-5.904	0.45470	T	.	.	0.372	0.57969	A	.	.	2.796107	0.36766	20.3	0.64891624210208765	0.07619	0.35428	0.25299	N	AEFBI	.	.	.	.	.	.	.	.	.	2.10778055264717E-4	0.05948	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.170213	0.28859	4.49	2.6	0.30173	0.061000	0.14242	.	.	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.202000	0.21954	0.1873:0.1627:0.6499:0.0	5.780	0.17564	719	0.55657	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	.	.	.	.	.	.	.	.	0.08333	1504.27	37	chr11	5968364	.	G	A	1504.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.623;DP=315;ExcessHet=0;FS=0.673;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.54;ReadPosRankSum=1.74;SOR=0.624	GT:AD:DP:GQ:PL	0/1:59,61:120:99:1514,0,1518	5	0	1	1
chr11	6199415	6199415	G	A	exonic	OR52W1	.	nonsynonymous SNV	OR52W1:NM_001005178:exon1:c.G192A:p.M64I	.	430	1091	0	1	0	2	0.000915751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.324	0.0248721032643	.	.	.	.	.	.	.	.	.	.	.	.	.	rs914406782	2.052e-06	2.052e-06	2.722e-06	1.375e-06	0.0002	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	0	0	0.0002	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	0.983	0.60381	D	0.844	0.60373	P	0.000757	0.42006	U	0.000000	0.999713	0.48481	D	4.09	0.97262	H	2.99	0.09262	T	-3.7	0.70553	D	0.31	0.34981	-0.5599	0.66407	T	0.149	0.47646	T	10	0.44293082	0.58216	T	0.024872	0.47855	T	0.324	0.64624	0.428	0.47515	0.494232246516	0.49056	0.356448712412409	0.35558	0.12998121625	0.14663	0.399880170822	0.25052	T	0.013867	0.11911	T	0.155349	0.69768	D	0.000857593	0.70392	D	0.996788620948792	0.90073	D	0.873813	0.58316	D	0.9341356	0.94652	0.9581193	0.98869	0.9341356	0.94653	0.9581193	0.98870	-9.248	0.69280	D	.	.	0.625	0.69910	P	.	.	4.096327	0.61046	24.3	0.99758081921972652	0.84851	0.96921	0.71669	D	AEFBI	0.682952	0.64579	D	0.919542398061227	0.92685	11.56699	0.839143838299695	0.92365	11.385	0.999999999582835	0.74766	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.92	5.92	0.95557	4.831000	0.62441	6.390000	0.55557	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.851000	0.40252	0.0:0.0:1.0:0.0	19.309	0.94167	674	0.60593	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	1842.45	40	chr11	6199415	.	G	A	1842.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.011;DP=399;ExcessHet=0;FS=3.983;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.07;ReadPosRankSum=1.75;SOR=1.027	GT:AD:DP:GQ:PL	0/1:77,64:141:99:1853,0,2208	6	0	1	0
chr11	6217614	6217614	C	T	exonic	FAM160A2	.	nonsynonymous SNV	FAM160A2:NM_001098794:exon9:c.G1972A:p.G658R,FAM160A2:NM_032127:exon9:c.G2014A:p.G672R	.	403	1113	6	0	0	6	0.00268817	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	.	0.0110	0.0107827	0.0048	0.0314	0.0039	0	0.0003	0.0023	0.0011	0.0035	0.0046442	718	154602	rs145525932	0.0030	0.0030	0.0029	0.0030	0.0286	0.0029	0.0029	0.0271	0.0265	0.0286	0.0047	0.0226	0	0.0001	0.0059	0.0017	0.0052	0.0036	0.0096	0.0096	0.0101	0.0091	0.0259	0.0092	0.0091	0.0246	0.0241	0.0259	0	0.0109	0.0205	0.0002	0	0.0204	0.0015	0.0114	0.0033	0.427	0.14017	T	0.419	0.22154	T	0.001	0.12183	B	0.003	0.12133	B	0.101156	0.19852	N	0.582283	0.987563	0.24503	N	0.895	0.22405	L	0.99	0.41750	T	0.18	0.05035	N	0.212	0.23632	-1.0716	0.09065	T	0.021	0.08824	T	10	0.002270937	0.00033	T	.	.	.	0.030	0.07022	0.252	0.19067	0.043077524339	0.03247	0.5372884772549195	0.53653	0.389766893602	0.40207	0.396810948849	0.24625	T	0.008058	0.07418	T	-0.547386	0.00303	T	-0.536746	0.18617	T	0.00323705324857445	0.00034	T	0.80432	0.45191	T	0.023622314	0.01118	0.03919939	0.03959	0.023622314	0.01118	0.03919939	0.03959	-4.315	0.29339	T	.	.	0.071	0.14062	B	.;.;.	.;.;.	2.421550	0.31137	18.65	0.65124965433729498	0.07684	0.73340	0.35876	D	AEFDBI	0.183139	0.31047	N	-0.284993110122023	0.29726	1.651114	-0.138785552236324	0.33843	1.940219	0.894223574144983	0.25924	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.11	3.23	0.36150	2.105000	0.41449	4.023000	0.41268	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.956000	0.50813	0.0:0.8242:0.0:0.1758	8.250	0.30868	600	0.68026	.;.;.	.	.	.	.	.	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	0.008056	0.025253	0.004076	0.008772	0.000000	0.000000	0.015244	0.000000	0.07143	2431.44	35	chr11	6217614	.	C	T	2431.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.229;DP=394;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.98;ReadPosRankSum=-0.182;SOR=0.708	GT:AD:DP:GQ:PL	0/1:100,103:203:99:2442,0,2309	6	0	1	0
chr11	6270208	6270208	T	C	exonic	CCKBR	.	nonsynonymous SNV	CCKBR:NM_001318029:exon2:c.T272C:p.I91T,CCKBR:NM_001363552:exon3:c.T524C:p.I175T,CCKBR:NM_176875:exon3:c.T524C:p.I175T	.	417	1104	0	1	0	2	0.000904977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.897	0.232050179658	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.039	0.92824	D	0.989	0.77913	D	0.966	0.76916	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.955	0.85029	M	-1.0	0.76037	T	-4.31	0.79571	D	0.958	0.97643	0.461	0.89992	D	0.636	0.87273	D	10	0.95023084	0.94357	D	0.23205	0.88303	D	0.897	0.97097	0.75	0.88071	0.985180550503	0.98502	0.8752957364078582	0.87496	1.23549493298	0.81448	0.81583404541	0.84389	D	0.559027	0.85205	D	0.396287	0.89697	D	0.331462	0.89570	D	0.99768054485321	0.92162	D	0.927207	0.73352	D	0.71216786	0.78726	0.7320166	0.84164	0.71216786	0.78728	0.7320166	0.84165	-9.88	0.73190	D	.	.	0.729	0.82181	P	.;.;.	.;.;.	4.421730	0.68494	25.2	0.99678932364864903	0.79108	0.94946	0.62882	D	AEFDGBHCI	0.906059	0.85835	D	0.771947463522412	0.84325	8.256288	0.664525795124147	0.79698	7.137329	0.999999999998944	0.74766	0.77792	0.99625	0	0.615948	0.52940	0	0.854111	0.99894	0	0.584449	0.35598	0	.	.	4.81	4.81	0.61401	7.491000	0.80296	7.930000	0.74972	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.130000	0.19568	0.0:0.0:0.0:1.0	13.313	0.59828	595	0.68488	GPCR, rhodopsin-like, 7TM;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	.	.	.	.	.	.	.	.	0.07143	1796.63	34	chr11	6270208	.	T	C	1796.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.405;DP=342;ExcessHet=0;FS=2.815;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.37;ReadPosRankSum=0.687;SOR=0.968	GT:AD:DP:GQ:PL	0/1:78,80:158:99:1807,0,1954	6	0	1	0
chr11	7938764	7938764	C	T	exonic	OR10A3	.	nonsynonymous SNV	OR10A3:NM_001003745:exon1:c.G757A:p.G253S	.	429	1085	8	0	0	8	0.00367309	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.0041579155283	0.0018	0.000599042	0.0020	0.0004	0.0012	0	0	0.0029	0.0033	0.0015	0.0018758	290	154602	rs146467002	0.0021	0.0021	0.0021	0.0020	0.0026	0.0020	0.0020	0.0020	0.0020	0.0004	0.0016	0.0115	0	0.0004	0.0026	0.0021	0.0024	0.0018	0.0017	0.0017	0.0016	0.0017	0.0022	0.0015	0.0014	0.0019	0.0018	0.0004	0	0.0020	0.0132	0	0	0	0.0022	0.0014	0.0019	0.084	0.32929	T	0.067	0.44302	T	0.911	0.50336	P	0.6	0.50752	P	0.000833	0.41547	U	0.000000	0.994676	0.23467	N	1.575	0.39704	L	1.14	0.38397	T	-4.75	0.80256	D	0.266	0.30118	-0.9849	0.33856	T	0.119	0.41648	T	10	0.010415167	0.00232	T	0.004158	0.09995	T	0.158	0.41098	.	.	0.503374072614	0.49975	0.16378177724729304	0.16298	0.037006608582	0.03923	0.348554730415	0.17710	T	0.018675	0.15012	T	-0.428311	0.01517	T	-0.393564	0.34135	T	0.0345433062293743	0.02730	T	.	.	.	0.30084637	0.52981	0.3623418	0.61641	0.30084637	0.52981	0.3623418	0.61641	-6.25	0.48325	T	.	.	0.123	0.26294	B	.;.	.;.	3.647009	0.51738	23.1	0.99732202545928039	0.82833	0.23058	0.21952	N	AEFBI	0.184090	0.31141	N	0.194996121171081	0.50958	3.28109	0.16720067293782	0.48060	3.027184	2.07294232545529E-4	0.05948	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	4.74	4.74	0.59717	1.709000	0.37528	4.440000	0.43382	0.591000	0.32079	0.126000	0.23278	0.997000	0.33255	0.896000	0.43308	0.0:1.0:0.0:0.0	15.619	0.76536	793	0.45818	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	0.005539	0.000000	0.005435	0.000000	0.000000	0.000000	0.012195	0.007576	0.07143	2428.53	34	chr11	7938764	.	C	T	2428.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.027;DP=327;ExcessHet=0;FS=0.63;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=16.75;ReadPosRankSum=-0.325;SOR=0.65	GT:AD:DP:GQ:PL	0/1:56,89:145:99:2439,0,1456	6	0	1	0
chr11	8640460	8640460	C	T	exonic	TRIM66	.	nonsynonymous SNV	TRIM66:NM_014818:exon9:c.G1480A:p.E494K	.	433	1084	5	0	0	5	0.00230097	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	.	0.0028	0.00259585	0.0034	0.0010	0.0079	0	0.0030	0.0057	0.0083	0.0015	0.0010931	169	154602	rs183065153	0.0048	0.0046	0.0048	0.0047	0.0054	0.0047	0.0047	0.0053	0.0052	0.0006	0.0021	0.0036	2.823e-05	0.0042	0.0014	0.0054	0.0050	0.0021	0.0035	0.0035	0.0036	0.0034	0.0056	0.0032	0.0031	0.0047	0.0044	0.0009	0	0.0056	0.0032	0	0.0036	0	0.0050	0.0034	0.0021	0.004	0.65419	D	0.285	0.21343	T	0.751	0.43285	P	0.115	0.31843	B	0.008936	0.30598	N	0.149852	0.999997	0.08975	N	1.04	0.26193	L	2.27	0.17431	T	-0.91	0.25118	N	0.236	0.35938	-1.0356	0.18668	T	0.025	0.10866	T	10	0.005727023	0.00128	T	.	.	.	0.068	0.19811	.	.	0.393927044628	0.39002	0.43683994915403573	0.43600	.	.	0.616326332092	0.55210	T	0.004559	0.03968	T	-0.561372	0.00249	T	-0.577782	0.14743	T	0.0321910390005591	0.02337	T	0.810819	0.46223	T	0.108972475	0.25765	0.10950071	0.26392	0.108972475	0.25765	0.10950071	0.26391	-2.684	0.07170	T	.	.	0.108	0.37350	B	.;.;.	.;.;.	2.643668	0.34402	19.62	0.99331850435322155	0.59816	0.95795	0.66186	D	AEFDBI	0.229430	0.35296	N	-0.268213108783345	0.30384	1.693622	-0.266313988752801	0.29216	1.635056	0.995661963227626	0.34254	0.562547	0.31514	0	0.653731	0.59785	0	0.618376	0.41669	0	0.528226	0.09195	0	.	.	4.66	2.64	0.30504	3.801000	0.55249	5.764000	0.49701	-0.236000	0.07595	0.995000	0.38783	1.000000	0.68203	0.510000	0.29244	0.0:0.716:0.284:0.0	14.253	0.65578	363	0.84772	.;.;.	.	.	.	.	.	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	1876.44	40	chr11	8640460	.	C	T	1876.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.53;DP=350;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.51;ReadPosRankSum=-0.045;SOR=0.672	GT:AD:DP:GQ:PL	0/1:74,76:150:99:1887,0,1685	6	0	1	0
chr11	10559865	10559865	G	A	exonic	LYVE1	.	nonsynonymous SNV	LYVE1:NM_006691:exon5:c.C733T:p.L245F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.160	0.0249011538797	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1326559895	6.842e-07	6.841e-07	0	1.375e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.0	0.92824	D	0.999	0.90584	D	0.976	0.88582	D	0.000573	0.43250	D	0.095518	0.99588	0.42905	D	1.965	0.53209	M	2.78	0.49358	T	-2.11	0.70674	N	0.409	0.51315	-0.5105	0.68268	T	0.278	0.64967	T	10	0.45759934	0.59086	T	0.024901	0.47884	T	0.160	0.41473	.	.	0.658847598183	0.65599	0.361144483683018	0.36028	0.377967339066	0.39223	0.500039219856	0.38834	T	0.300945	0.67341	T	-0.111418	0.34533	T	-0.300967	0.44623	T	0.827329337596893	0.48323	D	0.793521	0.48098	T	0.18578689	0.39958	0.22161359	0.46978	0.18578689	0.39957	0.22161359	0.46977	-5.077	0.37664	T	.	.	0.174	0.50101	B	.;.	.;.	4.372186	0.67324	25.1	0.99901083335078478	0.97275	0.81219	0.40669	D	AEFI	0.647709	0.62279	D	0.664914981409489	0.77336	6.655425	0.630086732795568	0.77137	6.621437	0.00746831632290659	0.11472	0.615465	0.37627	0	0.563428	0.19063	0	0.547309	0.15389	0	0.655142	0.61905	0	.	.	5.44	4.52	0.54797	1.430000	0.34522	8.736000	0.78194	0.676000	0.76740	0.951000	0.33123	1.000000	0.68203	0.997000	0.79791	0.0783:0.0:0.9217:0.0	13.458	0.60664	516	0.74704	.;.	.	.	.	.	.	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	65.63	35	chr11	10559865	.	G	A	65.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-3.743;DP=306;ExcessHet=0;FS=61.261;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=0.53;ReadPosRankSum=1.54;SOR=5.993	GT:AD:DP:GQ:PL	0/1:104,19:123:76:76,0,3311	6	0	1	0
chr11	26598961	26598961	C	T	exonic	ANO3	.	nonsynonymous SNV	ANO3:NM_001313727:exon13:c.C1196T:p.T399I,ANO3:NM_031418:exon16:c.C1634T:p.T545I,ANO3:NM_001313726:exon17:c.C1817T:p.T606I	Dystonia 24, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.00865721240318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.421e-06	3.42e-06	5.445e-06	1.375e-06	4.497e-06	1e-06	7.3e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.497e-06	0	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	0.475	0.08359	T	0.63	0.08189	T	0.146	0.27821	B	0.063	0.27082	B	0.004106	0.34102	N	0.352991	0.880624	0.28055	N	-0.525	0.02545	N	0.07	0.61677	T	-0.95	0.25332	N	0.244	0.27792	-1.0459	0.15563	T	0.065	0.27017	T	10	0.124753684	0.23698	T	0.008657	0.22878	T	0.063	0.18251	0.43	0.47843	0.276482976112	0.27267	0.7533983401441656	0.75286	0.986908435057	0.73940	0.391129374504	0.23829	T	0.069586	0.37596	T	-0.162764	0.26337	T	-0.471575	0.25346	T	0.377617359161377	0.28091	T	0.90391	0.66280	D	0.11736485	0.27670	0.10411475	0.24999	0.11736485	0.27670	0.10411475	0.24998	-7.016	0.54368	T	0.12096986198066467	0.11431	0.143	0.35788	B	.;.;.	.;.;.	2.578380	0.33423	19.34	0.90491871051477035	0.19748	0.89838	0.50566	D	AEFDBI	0.329638	0.42992	N	-0.733008527993336	0.15099	0.7579739	-0.58304126069881	0.19935	1.071822	0.114052519703219	0.16723	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	6.07	-1.34	0.08665	2.407000	0.44219	0.833000	0.21967	0.599000	0.40250	0.999000	0.42656	0.000000	0.08366	0.998000	0.85391	0.0:0.1731:0.7558:0.0711	16.942	0.86092	816	0.41767	.;.;.	.	.	.	.	.	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	0	0	.	.	.	.	.	.	.	.	0.07143	1083.53	34	chr11	26598961	.	C	T	1083.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.132;DP=271;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.53;ReadPosRankSum=0.798;SOR=0.711	GT:AD:DP:GQ:PL	0/1:48,46:94:99:1094,0,1149	6	0	1	0
chr11	32933147	32933147	A	C	exonic	QSER1	.	nonsynonymous SNV	QSER1:NM_001076786:exon4:c.A1889C:p.N630T	.	426	1073	23	0	0	23	0.010604	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	.	0.0050	0.00319489	0.0082	0.0010	0.0029	0	0.0035	0.0100	0.0089	0.0148	0.0078136	1208	154602	rs200945717	0.0078	0.0078	0.0075	0.0082	0.0147	0.0077	0.0077	0.0140	0.0138	0.0010	0.0017	0.0440	5.039e-05	0.0040	0.0054	0.0074	0.0083	0.0147	0.0053	0.0054	0.0055	0.0052	0.0127	0.0050	0.0049	0.0101	0.0092	0.0011	0	0.0017	0.0447	0	0.0041	0.0034	0.0069	0.0047	0.0127	0.012	0.54683	D	0.793	0.04155	T	0.666	0.41077	P	0.115	0.31843	B	0.001150	0.40056	N	0.165190	0.890284	0.37002	D	2.295	0.65404	M	2.24	0.17923	T	-0.81	0.22294	N	0.247	0.27910	-1.0399	0.17343	T	0.060	0.25018	T	10	0.0028826594	0.00046	T	.	.	.	0.054	0.15330	.	.	0.102598925029	0.09809	0.29913251020922527	0.29826	0.0947004961836	0.10699	0.479451686144	0.35980	T	0.003077	0.02473	T	-0.489168	0.00657	T	-0.462459	0.26331	T	0.0239556581017881	0.01139	T	0.852615	0.53799	D	0.058677845	0.11834	0.082112774	0.18716	0.058677845	0.11834	0.082112774	0.18716	-2.139	0.03755	T	.	.	0.087	0.15564	B	.;.	.;.	1.802649	0.22914	15.81	0.99264736632263106	0.57356	0.94374	0.60962	D	AEFBI	0.358071	0.44888	N	-0.00559567196082522	0.41602	2.491293	0.0263182099775093	0.40942	2.45146	0.0079279909542356	0.11573	0.706548	0.73137	0	0.653731	0.59785	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.74	2.38	0.28415	3.226000	0.50956	4.066000	0.41626	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.834:0.0:0.166:0.0	8.830	0.34235	492	0.76569	.;.	.	.	.	.	.	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	0.002717	0.000000	0.000000	0.025862	0.012195	0.026515	0.07143	2598.44	56	chr11	32933147	.	A	C	2598.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.934;DP=624;ExcessHet=0;FS=1.033;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.7;ReadPosRankSum=-2.762;SOR=0.631	GT:AD:DP:GQ:PL	0/1:115,107:222:99:2609,0,3056	6	0	1	0
chr11	47315257	47315257	G	A	exonic	MADD	.	nonsynonymous SNV	MADD:NM_001376663:exon25:c.G3464A:p.R1155Q,MADD:NM_001376611:exon26:c.G4028A:p.R1343Q,MADD:NM_001376613:exon26:c.G4016A:p.R1339Q,MADD:NM_001376614:exon26:c.G4016A:p.R1339Q,MADD:NM_001376650:exon26:c.G3887A:p.R1296Q,MADD:NM_001376661:exon26:c.G3821A:p.R1274Q,MADD:NM_001376662:exon26:c.G3674A:p.R1225Q,MADD:NM_001135943:exon27:c.G3998A:p.R1333Q,MADD:NM_001135944:exon27:c.G3989A:p.R1330Q,MADD:NM_001376584:exon27:c.G4130A:p.R1377Q,MADD:NM_001376593:exon27:c.G4118A:p.R1373Q,MADD:NM_001376594:exon27:c.G4118A:p.R1373Q,MADD:NM_001376615:exon27:c.G4001A:p.R1334Q,MADD:NM_001376616:exon27:c.G4001A:p.R1334Q,MADD:NM_001376618:exon27:c.G3989A:p.R1330Q,MADD:NM_001376619:exon27:c.G3989A:p.R1330Q,MADD:NM_001376620:exon27:c.G3989A:p.R1330Q,MADD:NM_001376621:exon27:c.G3989A:p.R1330Q,MADD:NM_001376654:exon27:c.G3857A:p.R1286Q,MADD:NM_130470:exon27:c.G4130A:p.R1377Q,MADD:NM_130472:exon27:c.G4001A:p.R1334Q,MADD:NM_130474:exon27:c.G4001A:p.R1334Q,MADD:NM_130476:exon27:c.G4127A:p.R1376Q,MADD:NM_001376579:exon28:c.G4181A:p.R1394Q,MADD:NM_001376580:exon28:c.G4181A:p.R1394Q,MADD:NM_001376583:exon28:c.G4133A:p.R1378Q,MADD:NM_001376603:exon28:c.G4064A:p.R1355Q,MADD:NM_001376604:exon28:c.G4052A:p.R1351Q,MADD:NM_001376607:exon28:c.G4049A:p.R1350Q,MADD:NM_001376622:exon28:c.G4181A:p.R1394Q,MADD:NM_001376623:exon28:c.G4181A:p.R1394Q,MADD:NM_001376626:exon28:c.G3980A:p.R1327Q,MADD:NM_001376631:exon28:c.G4154A:p.R1385Q,MADD:NM_001376633:exon28:c.G4139A:p.R1380Q,MADD:NM_001376634:exon28:c.G4130A:p.R1377Q,MADD:NM_001376635:exon28:c.G3920A:p.R1307Q,MADD:NM_001376644:exon28:c.G3911A:p.R1304Q,MADD:NM_001376646:exon28:c.G3908A:p.R1303Q,MADD:NM_001376647:exon28:c.G3902A:p.R1301Q,MADD:NM_001376651:exon28:c.G4064A:p.R1355Q,MADD:NM_001376652:exon28:c.G4064A:p.R1355Q,MADD:NM_001376653:exon28:c.G4061A:p.R1354Q,MADD:NM_001376656:exon28:c.G4052A:p.R1351Q,MADD:NM_001376657:exon28:c.G4031A:p.R1344Q,MADD:NM_001376658:exon28:c.G4004A:p.R1335Q,MADD:NM_001376660:exon28:c.G3902A:p.R1301Q,MADD:NM_130471:exon28:c.G4061A:p.R1354Q,MADD:NM_130473:exon28:c.G4190A:p.R1397Q,MADD:NM_001376574:exon29:c.G4253A:p.R1418Q,MADD:NM_001376575:exon29:c.G4247A:p.R1416Q,MADD:NM_001376576:exon29:c.G4235A:p.R1412Q,MADD:NM_001376577:exon29:c.G4235A:p.R1412Q,MADD:NM_001376578:exon29:c.G4208A:p.R1403Q,MADD:NM_001376585:exon29:c.G4115A:p.R1372Q,MADD:NM_001376586:exon29:c.G4112A:p.R1371Q,MADD:NM_001376595:exon29:c.G4106A:p.R1369Q,MADD:NM_001376596:exon29:c.G4313A:p.R1438Q,MADD:NM_001376597:exon29:c.G4106A:p.R1369Q,MADD:NM_001376598:exon29:c.G4106A:p.R1369Q,MADD:NM_001376602:exon29:c.G4088A:p.R1363Q,MADD:NM_001376605:exon29:c.G4253A:p.R1418Q,MADD:NM_001376606:exon29:c.G4250A:p.R1417Q,MADD:NM_001376608:exon29:c.G4244A:p.R1415Q,MADD:NM_001376609:exon29:c.G4241A:p.R1414Q,MADD:NM_001376610:exon29:c.G4235A:p.R1412Q,MADD:NM_001376617:exon29:c.G4112A:p.R1371Q,MADD:NM_001376627:exon29:c.G3962A:p.R1321Q,MADD:NM_001376636:exon29:c.G4124A:p.R1375Q,MADD:NM_001376637:exon29:c.G4124A:p.R1375Q,MADD:NM_001376638:exon29:c.G4121A:p.R1374Q,MADD:NM_001376639:exon29:c.G4121A:p.R1374Q,MADD:NM_001376640:exon29:c.G4118A:p.R1373Q,MADD:NM_001376641:exon29:c.G4115A:p.R1372Q,MADD:NM_001376642:exon29:c.G4112A:p.R1371Q,MADD:NM_001376643:exon29:c.G4112A:p.R1371Q,MADD:NM_001376645:exon29:c.G4106A:p.R1369Q,MADD:NM_001376648:exon29:c.G4091A:p.R1364Q,MADD:NM_001376649:exon29:c.G4091A:p.R1364Q,MADD:NM_001376655:exon29:c.G4052A:p.R1351Q,MADD:NM_001376659:exon29:c.G3962A:p.R1321Q,MADD:NM_001376571:exon30:c.G4307A:p.R1436Q,MADD:NM_001376572:exon30:c.G4295A:p.R1432Q,MADD:NM_001376573:exon30:c.G4295A:p.R1432Q,MADD:NM_001376581:exon30:c.G4166A:p.R1389Q,MADD:NM_001376582:exon30:c.G4166A:p.R1389Q,MADD:NM_001376599:exon30:c.G4295A:p.R1432Q,MADD:NM_001376600:exon30:c.G4295A:p.R1432Q,MADD:NM_001376601:exon30:c.G4295A:p.R1432Q,MADD:NM_001376624:exon30:c.G4178A:p.R1393Q,MADD:NM_001376625:exon30:c.G4178A:p.R1393Q,MADD:NM_001376628:exon30:c.G4175A:p.R1392Q,MADD:NM_001376629:exon30:c.G4166A:p.R1389Q,MADD:NM_001376630:exon30:c.G4166A:p.R1389Q,MADD:NM_001376632:exon30:c.G4139A:p.R1380Q,MADD:NM_003682:exon30:c.G4307A:p.R1436Q,MADD:NM_130475:exon30:c.G4307A:p.R1436Q	.	427	1089	6	0	0	6	0.00274725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.507	0.0198109026063	.	.	7.416e-05	0	0	0	0	7.495e-05	0	0.0002	5.82e-05	9	154602	rs769408216	6.705e-05	6.772e-05	4.765e-05	8.665e-05	0.0024	5.63e-05	5.173e-05	0.0015	0.0012	2.988e-05	2.236e-05	0	0	0	0.0024	4.947e-05	0.0002	0.0002	5.254e-05	5.25e-05	3.856e-05	6.716e-05	0.0002	2.556e-05	1.829e-05	1.972e-05	1.125e-05	0	0	0	0	0	0	0.0034	5.882e-05	0.0009	0.0002	0.001	0.78490	D	0.005	0.92824	D	1.0	0.90584	D	0.948	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.585	0.75554	M	2.9	0.56937	T	-3.63	0.73378	D	0.822	0.93135	-0.3640	0.73144	T	0.337	0.70379	T	10	0.7422017	0.75037	D	0.019811	0.42265	T	0.507	0.78786	0.494	0.58206	0.703228973311	0.70065	0.7397709375703098	0.73922	1.64595255246	0.89467	0.587775468826	0.51180	T	0.223148	0.85290	T	0.147298	0.69014	D	0.210475	0.83689	D	0.590818166732788	0.36038	D	0.993801	0.99062	D	0.6682185	0.76337	0.55477	0.74249	0.6682185	0.76339	0.55477	0.74250	-4.643	0.32892	T	.	.	0.231	0.57585	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	5.641328	0.92745	33	0.99954943153851039	0.99969	0.96523	0.69565	D	AEFDGBHCI	0.924018	0.90139	D	0.837735621072375	0.88399	9.563798	0.823581689206786	0.91382	10.85879	0.999999999999476	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.29	5.29	0.74430	9.507000	0.96991	11.721000	0.94817	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	18.942	0.92581	16	0.98727	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	0.002024	0.000000	0.002732	0.002941	0.055556	0.000000	0.003086	0.000000	0.07143	1085.46	39	chr11	47315257	.	G	A	1085.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.49;DP=321;ExcessHet=0;FS=3.261;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.92;ReadPosRankSum=0.251;SOR=1.032	GT:AD:DP:GQ:PL	0/1:89,48:137:99:1096,0,2067	6	0	1	0
chr11	54707345	54707345	C	T	exonic	OR4A5	.	nonsynonymous SNV	OR4A5:NM_001005272:exon1:c.C461T:p.S154F	.	427	1089	6	0	0	6	0.00274725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.00171914154777	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs775297031	0.0001	0.0001	8.714e-05	0.0001	0.0024	0.0001	9.769e-05	0.0015	0.0012	0	0	0	0	0	0.0024	7.285e-05	0.0003	0.0007	5.913e-05	5.906e-05	3.856e-05	8.064e-05	0.0006	3.077e-05	2.21e-05	0.0002	8.996e-05	0	0	0	0	0	0	0.0034	5.882e-05	0.0005	0.0006	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.91	0.44856	T	-4.93	0.81755	D	0.141	0.14054	.	.	.	.	.	.	.	0.12288877	0.23319	T	.	.	.	.	.	.	.	.	.	0.9597431349534111	0.95960	.	.	.	.	.	0.005385	0.04831	T	.	.	.	.	.	.	.	.	.	0.89721	0.64041	D	.	.	.	.	.	.	.	.	-7.091	0.54696	T	.	.	0.243	0.47719	B	.	.	2.892724	0.38319	20.7	.	.	.	.	.	.	0.022958	0.01216	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037000	0.13728	.	.	0.271000	0.18527	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	.	.	.	215	0.91651	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	.	.	.	.	.	.	.	.	0.08333	1728.23	39	chr11	54707345	.	C	T	1728.23	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.585;DP=400;ExcessHet=0;FS=5.26;MLEAC=1;MLEAF=0.083;MQ=57.54;MQRankSum=-1.601;QD=9.24;ReadPosRankSum=1.59;SOR=0.532	GT:AD:DP:GQ:PL	0/1:113,74:187:99:1738,0,2972	5	0	1	1
chr11	56412815	56412815	A	G	exonic	OR5AL1	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.848e-05	2.545e-05	2.475e-05	3.211e-05	0.0001	1.283e-05	8.6e-06	5.06e-06	2.4e-06	0.0001	0	0	0	0	0	1.902e-05	0.0002	0	6.573e-06	6.566e-06	1.286e-05	0	2.407e-05	0	0	.	.	2.407e-05	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	.	.	.	.	.	.	.	.	0.25	249.94	64	chr11	56412815	.	A	G	249.94	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-3.554;DP=685;ExcessHet=1.1394;FS=104.012;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=0.68;ReadPosRankSum=1.43;SOR=9.641	GT:AD:DP:GQ:PL	0/1:111,26:137:21:21,0,2583	3	0	3	1
chr11	57308543	57308543	C	T	exonic	TNKS1BP1	.	nonsynonymous SNV	TNKS1BP1:NM_033396:exon6:c.G4168A:p.A1390T	.	420	1100	2	0	0	2	0.000908265	.	.	.	2295370	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.018	0.00781027836625	.	.	0.0002	0	0.0003	0	0	0.0002	0	0	0.0001294	20	154602	rs201868001	4.104e-05	4.104e-05	4.084e-05	4.125e-05	0.0002	3.244e-05	2.919e-05	4.358e-05	2.767e-05	0	0.0001	0	0	0	0.0002	4.047e-05	8.279e-05	4.637e-05	2.629e-05	2.627e-05	2.57e-05	2.69e-05	4.411e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.411e-05	0.0005	0	0.535	0.06913	T	0.401	0.14961	T	0.035	0.20614	B	0.01	0.14941	B	0.788534	0.09415	N	0.866235	0.998821	0.21877	N	1.23	0.30720	L	1.42	0.33189	T	-0.3	0.11913	N	0.049	0.02559	-0.9966	0.30865	T	0.041	0.17742	T	10	0.02050808	0.00474	T	0.00781	0.20720	T	0.018	0.03083	0.093	0.01151	0.372446077551	0.36852	0.03669228785989945	0.03616	0.076237714605	0.08559	0.38249823451	0.22611	T	0.001525	0.00969	T	-0.478545	0.00754	T	-0.650874	0.08893	T	0.0238932068763395	0.01131	T	0.60344	0.22635	T	0.039476134	0.05456	0.038607623	0.03767	0.039476134	0.05456	0.038607623	0.03767	-4.395	0.29489	T	.	.	0.097	0.15832	B	.;.	.;.	1.176380	0.15667	12.02	0.98022666985951057	0.37643	0.33031	0.24729	N	AEFDGBCI	0.041744	0.06386	N	-0.610964442049837	0.18613	0.9678074	-0.510056077664233	0.21879	1.185742	0.999983724484861	0.51787	0.67177	0.52595	0	0.643519	0.57511	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	4.39	1.35	0.21078	-0.501000	0.06479	-0.136000	0.11567	-0.182000	0.10109	0.012000	0.18695	0.576000	0.25597	0.979000	0.57723	0.2149:0.5487:0.0:0.2364	3.059	0.05821	440	0.80101	.;.	.	.	.	.	.	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	793.53	29	chr11	57308543	.	C	T	793.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.27;DP=221;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.17;ReadPosRankSum=0.492;SOR=0.741	GT:AD:DP:GQ:PL	0/1:23,33:56:99:804,0,588	6	0	1	0
chr11	59125346	59125346	C	T	exonic	FAM111B	.	nonsynonymous SNV	FAM111B:NM_001142704:exon2:c.C1159T:p.R387W,FAM111B:NM_001142703:exon3:c.C1159T:p.R387W,FAM111B:NM_198947:exon4:c.C1249T:p.R417W	Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis, Autosomal dominant	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.00932604505896	.	.	1.655e-05	0	0	0.0001	0	1.501e-05	0	0	1.29e-05	2	154602	rs750701880	8.894e-06	8.893e-06	8.168e-06	9.627e-06	2.52e-05	4.96e-06	3.82e-06	3.85e-06	2.76e-06	0	0	0	2.52e-05	1.873e-05	0	8.095e-06	0	2.319e-05	1.316e-05	1.314e-05	2.572e-05	0	0.0002	2.19e-06	8.2e-07	.	.	0	0	0	0	0.0002	9.423e-05	0	0	0	0	0.002	0.72154	D	0.006	0.70582	D	0.0	0.02946	B	0.0	0.01387	B	0.589333	0.05582	N	1.340670	1	0.08975	N	1.39	0.34934	L	1.42	0.33189	T	-3.41	0.67129	D	0.117	0.11626	-0.9671	0.37794	T	0.044	0.18742	T	10	0.06274131	0.08068	T	0.009326	0.24483	T	0.015	0.02232	0.333	0.32005	0.215869574891	0.21205	0.30081314102616186	0.29994	0.053446376528	0.05892	0.205919057131	0.00650	T	0.220995	0.58443	T	-0.389946	0.02693	T	-0.628778	0.10506	T	0.125427648425102	0.14953	T	0.49795	0.15494	T	0.06938945	0.15199	0.08804793	0.20504	0.06938945	0.15199	0.08804793	0.20503	-5.154	0.39134	T	0.1735967742886933	0.22002	0.092	0.24294	B	.;.;.;.	.;.;.;.	0.692762	0.10613	7.317	0.92965242476032162	0.22542	0.04625	0.10288	N	AEFBCI	0.071173	0.14159	N	-1.49341003158115	0.01896	0.08320293	-1.58701098117294	0.01735	0.07886542	0.00765576598037059	0.11515	0.706548	0.73137	0	0.702456	0.74545	0	0.575934	0.27490	0	0.714379	0.83352	0	.	.	3.85	-4.95	0.02821	-1.991000	0.01567	-15.955000	0.00333	-0.997000	0.01825	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5503:0.2761:0.0:0.1736	5.833	0.17844	626	0.65439	.;.;.;.	.	.	.	.	.	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	1580.27	42	chr11	59125346	.	C	T	1580.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.48;DP=298;ExcessHet=0;FS=0.73;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.74;ReadPosRankSum=-2.336;SOR=0.793	GT:AD:DP:GQ:PL	0/1:60,55:115:99:1590,0,1524	5	0	1	1
chr11	60869537	60869537	G	A	exonic	ZP1	.	nonsynonymous SNV	ZP1:NM_207341:exon3:c.G319A:p.D107N	Oocyte maturation defect 1, Autosomal recessive	420	1083	18	1	0	20	0.00914913	0.9251	0.684	.	2816659	not_provided|ZP1-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.083	0.0084374323153	0.0020	0.00139776	0.0023	0.0002	0.0027	0.0006	0	0.0031	0.0097	0.0007	0.0021345	330	154602	rs145707301	0.0020	0.0020	0.0020	0.0020	0.0163	0.0020	0.0019	0.0136	0.0126	0.0003	0.0031	0.0205	0.0006	5.675e-05	0.0163	0.0017	0.0035	0.0008	0.0020	0.0020	0.0019	0.0020	0.0034	0.0018	0.0017	0.0027	0.0024	0.0003	0	0.0034	0.0202	0.0006	0	0.0136	0.0021	0.0052	0.0008	0.019	0.50132	D	0.126	0.35205	T	0.845	0.46707	P	0.326	0.41929	B	0.527017	0.05235	N	1.262390	0.76458	0.34078	D	0.805	0.20218	L	1.65	0.27650	T	-1.73	0.41046	N	0.078	0.05287	-1.0268	0.21494	T	0.057	0.23904	T	9	0.0063221753	0.00143	T	0.008437	0.22332	T	0.083	0.24192	.	.	0.462461958149	0.45873	0.5216341298894437	0.52086	0.201467826254	0.22544	0.362747877836	0.19786	T	0.06113	0.31572	T	-0.643027	0.00080	T	-0.701055	0.05768	T	0.0258744014069865	0.01388	T	0.59614	0.22137	T	0.07250748	0.16136	0.07542073	0.16601	0.06388268	0.13497	0.06292846	0.12389	-6.651	0.51440	T	0.2812643485133788	0.37661	0.102	0.17953	B	.	.	2.910020	0.38601	20.8	0.99649124727281668	0.77192	0.59398	0.30904	D	AEFBI	0.140577	0.26251	N	-0.0297272071245893	0.40512	2.407167	-0.0626323343636556	0.36950	2.156914	0.999630396214113	0.41205	0.487112	0.14033	0	0.547309	0.14657	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.28	4.28	0.50183	1.754000	0.37998	4.702000	0.44414	-0.289000	0.06313	0.938000	0.32564	1.000000	0.68203	0.313000	0.24807	0.0:0.0:1.0:0.0	12.575	0.55709	658	0.62094	.	.	.	.	.	.	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	1	0	0.010574	0.005051	0.008152	0.023392	0.000000	0.008621	0.021341	0.003788	0.2143	4134.76	34	chr11	60869537	.	G	A	4134.76	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-1.168;DP=437;ExcessHet=1.1394;FS=4.141;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=13.38;ReadPosRankSum=0.64;SOR=0.495	GT:AD:DP:GQ:PL	0/1:61,61:122:99:1610,0,1622	4	0	3	0
chr11	61346474	61346474	C	T	exonic	TKFC	.	nonsynonymous SNV	TKFC:NM_015533:exon18:c.C1699T:p.R567W,TKFC:NM_001351976:exon19:c.C1699T:p.R567W	.	427	1094	1	0	0	1	0.00045683	.	.	.	3216195	TKFC-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.242	0.0495847740076	0.0007	0.000998403	0.0008	0.0008	0.0028	0	0	0.0008	0.0011	0.0001	0.0007633	118	154602	rs139056511	0.0007	0.0007	0.0007	0.0007	0.0035	0.0007	0.0007	0.0029	0.0027	0.0006	0.0033	0.0007	2.522e-05	0	0.0035	0.0006	0.0018	9.282e-05	0.0010	0.0010	0.0011	0.0010	0.0045	0.0009	0.0009	0.0037	0.0033	0.0007	0	0.0045	0.0006	0	0	0.0034	0.0006	0.0061	0	0.002	0.72154	D	0.002	0.79402	D	0.995	0.67487	D	0.727	0.55167	P	0.000329	0.45700	D	0.216830	0.999879	0.50225	D	.	.	.	1.43	0.32958	T	-4.6	0.78976	D	0.411	0.45142	-0.8415	0.52547	T	0.113	0.40399	T	10	0.022637635	0.00570	T	0.049585	0.63876	D	0.242	0.54781	.	.	0.68686329256	0.68418	0.6747777279296933	0.67415	0.144314673095	0.16289	0.39784270525	0.24768	T	0.582459	0.86348	D	-0.334605	0.05770	T	-0.256464	0.49176	T	0.0549904942666553	0.06356	T	0.927907	0.73422	D	0.54157764	0.69485	0.569189	0.75057	0.54157764	0.69486	0.569189	0.75058	-10.801	0.78555	D	.	.	0.268	0.50204	B	.	.	4.313435	0.65958	24.9	0.99733419858941907	0.82975	0.80775	0.40328	D	AEFDGBCI	0.742836	0.68633	D	0.497942562833892	0.66970	5.019571	0.470844326230029	0.66065	4.903979	0.999999390344524	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.662433	0.64102	0	.	.	5.67	4.73	0.59485	2.320000	0.43456	3.273000	0.37174	0.599000	0.40250	0.994000	0.38300	1.000000	0.68203	0.989000	0.64315	0.0:0.7258:0.2742:0.0	14.655	0.68436	742	0.52873	DhaL domain|DhaL domain|DhaL domain	.	.	.	.	.	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	0.008560	0.040404	0.006793	0.000000	0.050000	0.008621	0.000000	0.003788	0.07143	1038.49	33	chr11	61346474	.	C	T	1038.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.858;DP=260;ExcessHet=0;FS=4.034;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.67;ReadPosRankSum=0.792;SOR=1.17	GT:AD:DP:GQ:PL	0/1:45,44:89:99:1049,0,1009	6	0	1	0
chr11	61740527	61740527	G	C	exonic	DAGLA	.	nonsynonymous SNV	DAGLA:NM_006133:exon18:c.G1918C:p.V640L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.359	0.0303838687175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.204	0.20078	T	0.084	0.41239	T	0.984	0.60733	D	0.956	0.69739	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.085	0.57729	M	1.75	0.26152	T	-1.66	0.39692	N	0.801	0.79696	-0.9294	0.44227	T	0.147	0.47183	T	10	0.85639554	0.84838	D	0.030384	0.52709	D	0.359	0.67962	0.717	0.85230	0.332276917938	0.32835	0.6045569509805981	0.60386	1.38609513779	0.84885	0.863340735435	0.91603	D	0.126602	0.45309	T	0.100887	0.64389	D	-0.0928586	0.63945	T	0.953071773052216	0.63941	D	0.949005	0.80370	D	0.34753636	0.56875	0.27692467	0.53642	0.34753636	0.56876	0.27692467	0.53641	-9.454	0.70572	D	.	.	0.932	0.85229	P	.	.	5.079334	0.84758	28.4	0.99721849654714378	0.82125	0.99768	0.99325	D	AEFBI	0.892349	0.82920	D	0.710803035018918	0.80340	7.272851	0.681479095580318	0.80974	7.419648	0.999999999989603	0.74766	0.651	0.46895	0	0.547309	0.14657	0	0.723109	0.80598	0	0.683762	0.67416	0	.	.	4.41	4.41	0.52588	9.852000	0.98385	11.590000	0.93399	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	17.371	0.87267	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	.	.	.	.	.	.	.	.	0.5	1144.51	50	chr11	61740527	.	G	C	1144.51	.	AC=3;AF=0.5;AN=6;BaseQRankSum=-1.723;DP=358;ExcessHet=1.383;FS=340.269;MLEAC=4;MLEAF=0.667;MQ=60;MQRankSum=0;QD=5.5;ReadPosRankSum=0.587;SOR=8.525	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:68,26:99:99:.:.:685,0,1940:.	0	0	3	4
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|1:67,38:105:99:0|1:61740531_T_C:755,0,1918:61740531	1	0	4	2
chr11	61744322	61744322	C	G	exonic	DAGLA	.	nonsynonymous SNV	DAGLA:NM_006133:exon20:c.C2962G:p.L988V	.	414	1106	2	0	0	2	0.000903342	.	.	.	712924	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.036	.	0.0043	0.00658946	0.0057	0.0024	0.0238	0.0020	0.0064	0.0043	0.0089	0.0021	0.0057697	892	154602	rs117050893	0.0050	0.0050	0.0053	0.0048	0.0264	0.0049	0.0049	0.0251	0.0246	0.0007	0.0264	3.827e-05	0.0009	0.0050	0.0012	0.0048	0.0042	0.0019	0.0061	0.0061	0.0060	0.0062	0.0273	0.0058	0.0056	0.0252	0.0243	0.0019	0	0.0273	0	0.0012	0.0053	0	0.0051	0.0057	0.0025	0.254	0.16903	T	0.671	0.06284	T	0.0	0.02946	B	0.001	0.04355	B	0.000955	0.40932	D	0.158981	0.999989	0.18198	N	0	0.06538	N	1.82	0.25018	T	-0.41	0.14000	N	0.054	0.02559	-0.9913	0.32270	T	0.006	0.02018	T	10	0.0033251345	0.00057	T	.	.	.	0.036	0.09122	.	.	0.110392049598	0.10638	0.20094121990929129	0.20011	0.505875350505	0.48817	0.552421450615	0.46200	T	0.034717	0.23434	T	-0.64289	0.00080	T	-0.675294	0.07273	T	0.00280315734989648	0.00029	T	0.866813	0.56740	D	0.0899198	0.21024	0.058898468	0.10963	0.0899198	0.21024	0.058898468	0.10963	-4.461	0.30375	T	.	.	0.055	0.00397	B	.	.	1.554164	0.19917	14.50	0.94560613626838796	0.25086	0.39099	0.26137	N	AEFDBHCI	0.070014	0.13882	N	-0.806366762505243	0.13148	0.6456541	-0.699097533832518	0.16983	0.9009743	0.969966376792417	0.29170	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.567892	0.33627	0	.	.	4.03	1.95	0.25130	1.782000	0.38284	1.766000	0.28593	0.599000	0.40250	0.958000	0.33488	0.936000	0.28664	0.376000	0.26245	0.0:0.5927:0.3026:0.1048	8.643	0.33153	754	0.51307	.	.	.	.	.	.	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	0.001511	0.005051	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.07143	1559.44	39	chr11	61744322	.	C	G	1559.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.217;DP=345;ExcessHet=0;FS=1.408;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.58;ReadPosRankSum=1.17;SOR=0.572	GT:AD:DP:GQ:PL	0/1:60,64:124:99:1570,0,1453	6	0	1	0
chr11	64790394	64790394	G	A	exonic	MAP4K2	.	nonsynonymous SNV	MAP4K2:NM_001307990:exon28:c.C2137T:p.R713C,MAP4K2:NM_004579:exon28:c.C2161T:p.R721C	.	.	.	.	.	.	.	.	0.7432	0.45	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.0150045238285	0.0002	.	1.651e-05	0	0	0	0	3.003e-05	0	0	1.29e-05	2	154602	rs151089831	1.026e-05	1.094e-05	9.529e-06	1.1e-05	3.478e-05	6.16e-06	4.89e-06	9.24e-06	4.56e-06	0	2.236e-05	0	0	0	0	8.993e-06	1.656e-05	3.478e-05	2.628e-05	2.627e-05	3.854e-05	1.345e-05	4.826e-05	8.14e-06	5.14e-06	8e-06	2.99e-06	4.826e-05	0	0	0	0	0	0	2.94e-05	0	0	0.161	0.23813	T	0.073	0.43721	T	1.0	0.90584	D	0.971	0.72444	D	0.001343	0.39310	N	0.202353	0.999781	0.49076	D	1.875	0.49914	L	3.5	0.05014	T	-3.03	0.67705	D	0.602	0.62018	-1.1760	0.00432	T	0.043	0.18326	T	9	0.52626854	0.62927	D	0.015005	0.35490	T	0.158	0.41098	.	.	0.83609860386	0.83454	0.46599134248113777	0.46518	0.419777840034	0.42519	0.562215805054	0.47580	T	0.297713	0.67031	T	-0.117043	0.33608	T	-0.309047	0.43762	T	0.88260143995285	0.53273	D	0.783522	0.42019	T	0.09322114	0.21889	0.091927245	0.21638	0.09322114	0.21888	0.091927245	0.21637	-4.956	0.36358	T	.	.	0.148	0.32613	B	.;.	.;.	5.458435	0.91137	32	0.99306361680668553	0.58832	0.89833	0.50558	D	AEFDGBI	0.355435	0.44717	N	0.573141542258652	0.71502	5.660583	0.572157750810228	0.72952	5.891494	0.813770957997568	0.24402	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.32	5.32	0.75377	2.013000	0.40561	11.743000	0.95236	0.675000	0.71128	1.000000	0.71638	1.000000	0.68203	0.951000	0.49849	0.0:0.0:1.0:0.0	14.569	0.67789	429	0.80881	Citron homology (CNH) domain|Citron homology (CNH) domain|Citron homology (CNH) 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	1588.44	34	chr11	64790394	.	G	A	1588.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.82;DP=360;ExcessHet=0;FS=1.231;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.18;ReadPosRankSum=-0.291;SOR=0.832	GT:AD:DP:GQ:PL	0/1:107,66:173:99:1599,0,2658	6	0	1	0
chr11	64907875	64907875	C	T	exonic	ATG2A	.	nonsynonymous SNV	ATG2A:NM_001367971:exon17:c.G2380A:p.D794N,ATG2A:NM_001367972:exon17:c.G2380A:p.D794N,ATG2A:NM_015104:exon17:c.G2380A:p.D794N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.199	0.0182134436932	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1236193621	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.57e-06	6.566e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.205	0.20002	T	0.016	0.60972	D	1.0	0.90584	D	0.994	0.82059	D	0.000084	0.51296	D	0.123171	0.999952	0.52396	D	1.635	0.41844	L	0.71	0.51228	T	-2.43	0.53258	N	0.397	0.43803	-0.7610	0.57351	T	0.234	0.60112	T	10	0.30035675	0.47583	T	0.018213	0.40197	T	0.199	0.48268	0.388	0.40951	0.325139982731	0.32122	0.522286119516109	0.52151	0.386898477928	0.39976	0.704912424088	0.67854	T	0.075751	0.35252	T	-0.221742	0.17756	T	-0.556294	0.16727	T	0.947554171085358	0.62706	D	0.916508	0.70155	D	0.09759327	0.23008	0.09619529	0.22846	0.09759327	0.23007	0.09619529	0.22846	-7.776	0.59533	D	.	.	0.196	0.41693	B	.	.	4.977500	0.82420	27.8	0.99909744087132746	0.97949	0.99333	0.94632	D	AEFDGBI	0.807478	0.73151	D	0.371827039028495	0.59900	4.173493	0.426871738653538	0.63244	4.554462	0.999999519760679	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.29	4.29	0.50359	6.998000	0.76033	7.650000	0.63651	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.0:1.0:0.0:0.0	14.672	0.68564	289	0.88525	.	.	.	.	.	.	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	599.27	21	chr11	64907875	.	C	T	599.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.173;DP=181;ExcessHet=0;FS=4.314;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.48;ReadPosRankSum=-1.109;SOR=0.25	GT:AD:DP:GQ:PL	0/1:20,28:48:99:609,0,514	5	0	1	1
chr11	65020487	65020487	C	A	exonic	ARL2	.	nonsynonymous SNV	ARL2:NM_001667:exon4:c.C408A:p.N136K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.0239749519375	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.857e-07	6.84e-07	1.364e-06	0	9.007e-07	0	0	.	.	0	0	0	0	0	0	9.007e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.258	0.16683	T	0.693	0.05863	T	0.053	0.22573	B	0.146	0.33945	B	0.009084	0.30522	U	0.307523	1	0.81001	D	0.45	0.12780	N	0.04	0.62051	T	-0.88	0.23808	N	0.302	0.34336	-0.8438	0.52392	T	0.095	0.35818	T	10	0.08916199	0.15420	T	0.023975	0.46960	T	0.095	0.27398	0.431	0.48007	0.337621943819	0.33374	0.23548631430463726	0.23463	0.323005519073	0.34468	0.509726285934	0.40184	T	0.037235	0.24401	T	-0.26731	0.12059	T	-0.621749	0.11049	T	0.50519186258316	0.32820	D	0.821518	0.48098	T	0.38417426	0.59616	0.16690096	0.38533	0.38417426	0.59617	0.16690096	0.38533	-5.272	0.39665	T	.	.	0.121	0.25166	B	.;.	.;.	-2.516814	0.00030	0.001	0.90273510596037709	0.19542	0.05121	0.10926	N	AEFDBI	0.125704	0.24232	N	-1.69937676962328	0.00844	0.0365089	-1.7672520640347	0.00870	0.03888167	0.999999951066951	0.74766	0.744818	0.98587	0	0.743671	0.97443	0	0.732433	0.93434	0	0.714379	0.83352	0	.	.	5.38	-10.8	0.00171	-3.579000	0.00474	-14.184000	0.00417	-2.914000	0.00159	0.000000	0.06391	0.000000	0.08366	0.805000	0.37950	0.0:0.6476:0.0935:0.2589	14.409	0.66672	331	0.86429	Small GTP-binding protein domain;Small GTP-binding protein domain	.	.	.	.	.	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	0	0	.	.	.	.	.	.	.	.	0.08333	1004.27	35	chr11	65020487	.	C	A	1004.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.03;DP=249;ExcessHet=0;FS=3.006;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.96;ReadPosRankSum=-0.703;SOR=1.067	GT:AD:DP:GQ:PL	0/1:43,41:84:99:1014,0,906	5	0	1	1
chr11	65966486	65966486	G	A	exonic	SART1	.	nonsynonymous SNV	SART1:NM_005146:exon9:c.G1118A:p.R373Q	.	402	1119	1	0	0	1	0.000446628	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	.	0.0084	0.00778754	0.0026	0.0291	0.0008	0	0	0.0001	0	0.0002	0.0021992	340	154602	rs75194122	0.0008	0.0008	0.0009	0.0007	0.0290	0.0008	0.0008	0.0275	0.0269	0.0290	0.0011	0	0	0	0.0018	3.97e-05	0.0018	0.0002	0.0074	0.0074	0.0076	0.0072	0.0258	0.0071	0.0069	0.0245	0.0240	0.0258	0	0.0021	0	0	0	0	0.0001	0.0076	0	0.168	0.23007	T	0.264	0.22761	T	0.419	0.35307	B	0.057	0.26280	B	0.000156	0.49130	D	0.080647	0.997552	0.43985	D	1.61	0.41143	L	1.88	0.23884	T	-0.73	0.20576	N	0.471	0.50688	-1.0975	0.04407	T	0.015	0.06042	T	10	0.006131828	0.00138	T	.	.	.	0.142	0.37995	.	.	0.515658035153	0.51206	0.25248475594683534	0.25162	0.343234087858	0.36255	0.46672552824	0.34231	T	0.02317	0.17733	T	-0.571058	0.00218	T	-0.573465	0.15133	T	0.015022944564895	0.00323	T	0.907009	0.67171	D	0.04842909	0.08439	0.06141475	0.11856	0.04842909	0.08439	0.06141475	0.11856	-6.506	0.50333	T	.	.	0.080	0.07697	B	.	.	4.018000	0.59328	24.1	0.99685239441604578	0.79507	0.96428	0.69091	D	AEFDBI	0.615918	0.60268	D	0.0114123593145593	0.42373	2.551894	0.107599486668616	0.44937	2.765869	0.99120983822516	0.32408	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.02	4.02	0.45968	5.167000	0.64812	11.785000	0.96215	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.1143:0.0:0.8857:0.0	8.001	0.29454	229	0.91079	.	.	.	.	.	.	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	0.002523	0.000000	0.004076	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	688.63	36	chr11	65966486	.	G	A	688.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.75;DP=248;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.08;ReadPosRankSum=0.697;SOR=0.698	GT:AD:DP:GQ:PL	0/1:31,26:57:99:699,0,751	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	0/1:74,43:117:99:.:.:155,0,1166:.	2	0	5	0
chr11	67451504	67451527	CTGTGGCTGGGCCACAGAATCTGA	-	exonic	GPR152	.	nonframeshift deletion	GPR152:NM_206997:exon1:c.1198_1221del:p.S400_Q407del	.	415	1106	1	0	0	1	0.000451875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	9.773e-05	8.661e-05	0	0.0003	0.0006	0	6.058e-05	0.0001153	3	26028	rs777806211	0.0005	0.0005	0.0005	0.0004	0.0006	0.0004	0.0004	0.0005	0.0005	0.0002	6.708e-05	0	0	0.0003	0.0002	0.0006	0.0002	0.0001	0.0003	0.0003	0.0003	0.0003	0.0005	0.0002	0.0002	0.0004	0.0003	7.239e-05	0	0	0	0	0.0002	0	0.0005	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1282.5	37	chr11	67451503	.	CCTGTGGCTGGGCCACAGAATCTGA	C	1282.5	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.62;DP=272;ExcessHet=0;FS=4.431;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=16.03;ReadPosRankSum=-0.439;SOR=1.295	GT:AD:DP:GQ:PL	0/1:46,34:80:99:1293,0,1825	6	0	1	0
chr11	70087990	70087990	C	T	exonic	ANO1	.	nonsynonymous SNV	ANO1:NM_001378094:exon2:c.C347T:p.P116L,ANO1:NM_001378095:exon2:c.C347T:p.P116L,ANO1:NM_001378096:exon2:c.C347T:p.P116L,ANO1:NM_001378097:exon2:c.C347T:p.P116L,ANO1:NM_018043:exon2:c.C347T:p.P116L,ANO1:NM_001378092:exon3:c.C470T:p.P157L,ANO1:NM_001378093:exon3:c.C347T:p.P116L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.0255439794803	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs758244027	4.948e-06	6.156e-06	4.19e-06	5.723e-06	5.139e-05	2.06e-06	1.32e-06	8.52e-06	3.19e-06	0	5.139e-05	0	0	0	0	4.598e-06	0	0	6.584e-06	6.568e-06	0	1.348e-05	.	0	0	.	.	0	0	0	0	0	9.455e-05	0	0	0	0	0.031	0.52492	D	0.157	0.47336	T	0.109	0.31569	B	0.026	0.21939	B	0.534985	0.11597	N	0.781135	1	0.30691	N	2.175	0.60977	M	1.6	0.28604	T	-3.19	0.77965	D	0.127	0.23632	-1.0210	0.23389	T	0.067	0.27674	T	9	0.123719454	0.23490	T	0.025544	0.48513	D	0.044	0.11924	0.251	0.18912	0.209943299407	0.20609	0.23437282977103754	0.23352	0.42200000603	0.42705	0.48793143034	0.37152	T	0.443411	0.78721	T	-0.220358	0.17943	T	-0.554305	0.16914	T	0.195093706250191	0.20140	T	0.916908	0.70254	D	0.09514782	0.22385	0.08757211	0.20363	0.09514782	0.22385	0.08757211	0.20362	-3.376	0.24162	T	.	.	0.075	0.09288	B	.;.;.	.;.;.	2.362223	0.30299	18.39	0.98846797150427201	0.47220	0.28766	0.23643	N	AEFDBHCI	0.165299	0.29178	N	-0.538781600682713	0.20836	1.101443	-0.600260877972194	0.19486	1.045709	0.98708570168689	0.31181	0.658043	0.49183	0	0.59043	0.45803	0	0.659943	0.59835	0	0.567892	0.33627	0	.	.	3.91	2.8	0.31881	2.075000	0.41163	2.136000	0.30812	0.524000	0.24156	0.009000	0.18154	0.024000	0.20971	0.010000	0.09038	0.4784:0.5216:0.0:0.0	8.673	0.33325	912	0.21483	Anoctamin, dimerisation domain;Anoctamin, dimerisation 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	1443.63	46	chr11	70087990	.	C	T	1443.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.704;DP=353;ExcessHet=0;FS=5.593;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.93;ReadPosRankSum=-0.732;SOR=1.176	GT:AD:DP:GQ:PL	0/1:58,63:121:99:1454,0,1223	6	0	1	0
chr11	74836435	74836435	G	C	exonic	RNF169	.	nonsynonymous SNV	RNF169:NM_001098638:exon6:c.G1832C:p.S611T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.00854182418917	.	.	8.293e-06	0	0	0	0	1.501e-05	0	0	6.5e-06	1	154602	rs767012462	5.472e-06	5.472e-06	6.806e-06	4.125e-06	0.0002	2.35e-06	1.7e-06	2.62e-06	1.68e-06	0	0	0	0	0	0.0002	6.295e-06	0	0	1.314e-05	1.313e-05	0	2.689e-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	0.102	0.30235	T	0.169	0.30534	T	0.18	0.29046	B	0.019	0.18783	B	0.077475	0.21102	N	0.494197	1	0.08975	N	0.345	0.11182	N	0.94	0.43672	T	-0.54	0.16598	N	0.078	0.05287	-1.0121	0.26259	T	0.059	0.24908	T	10	0.04348281	0.03202	T	0.008542	0.22581	T	0.026	0.05648	0.163	0.06730	0.329282125956	0.32538	0.07945280959812458	0.07880	0.19503665548	0.21841	0.284970939159	0.08194	T	0.012078	0.10676	T	-0.304876	0.08207	T	-0.67571	0.07248	T	0.0576254971180433	0.06789	T	0.518548	0.16835	T	0.03167719	0.03051	0.04474615	0.05865	0.03167719	0.03051	0.04474615	0.05865	-3.929	0.22738	T	.	.	0.082	0.08512	B	.	.	0.676493	0.10449	7.169	0.66639111177004662	0.08118	0.25920	0.22842	N	AEFBI	0.071797	0.14307	N	-0.93492379431941	0.10033	0.477578	-0.880552819659915	0.12555	0.6464965	0.187286422815352	0.17954	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.56	2.64	0.30504	1.028000	0.29734	1.319000	0.25590	-0.126000	0.13398	0.002000	0.15269	0.258000	0.23964	0.969000	0.54022	0.0768:0.0:0.6356:0.2876	7.843	0.28574	638	0.64280	.	.	.	.	.	.	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	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.07143	2312.44	34	chr11	74836435	.	G	C	2312.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.64;DP=396;ExcessHet=0;FS=4.34;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.06;ReadPosRankSum=-0.059;SOR=0.451	GT:AD:DP:GQ:PL	0/1:91,86:177:99:2323,0,2254	6	0	1	0
chr11	76496253	76496253	C	G	exonic	EMSY	.	nonsynonymous SNV	EMSY:NM_001300943:exon9:c.C1150G:p.L384V,EMSY:NM_020193:exon9:c.C1147G:p.L383V,EMSY:NM_001300942:exon10:c.C1192G:p.L398V,EMSY:NM_001300944:exon10:c.C1192G:p.L398V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.251	0.00453261117237	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.56456	D	1.0	0.01155	T	0.997	0.70673	D	0.978	0.74104	D	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	0.895	0.22405	L	.	.	.	-0.65	0.18877	N	0.564	0.71765	-0.7531	0.57773	T	0.280	0.65159	T	9	0.24627647	0.41889	T	0.004533	0.11157	T	0.251	0.56024	0.179	0.08626	0.161926535498	0.15789	0.24888415373398984	0.24802	1.06807590383	0.76700	.	.	.	0.047385	0.27706	T	0.160681	0.70264	D	-0.00696975	0.69883	D	0.726653091053459	0.42037	D	0.973803	0.91380	D	0.17019881	0.37581	0.21170264	0.45610	0.17019881	0.37581	0.21170264	0.45609	-8.834	0.66622	D	.	.	0.174	0.48807	B	.;.;.;.;.;.	.;.;.;.;.;.	4.457012	0.69330	25.4	0.99597549711436872	0.73983	0.98681	0.85513	D	AEFGBI	0.752831	0.69321	D	0.6031989030994	0.73378	5.956139	0.660773827867368	0.79417	7.077691	0.999999997739998	0.74766	0.706548	0.73137	0	0.708844	0.79440	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.82	5.82	0.92740	7.156000	0.77041	7.656000	0.63963	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	20.109	0.97902	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	.	.	.	.	.	.	.	.	0.08333	54.61	68	chr11	76496253	.	C	G	54.61	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.174;DP=658;ExcessHet=0;FS=311.022;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=0.4;ReadPosRankSum=0.325;SOR=9.383	GT:AD:DP:GQ:PL	0/1:94,43:149:64:64,0,1143	5	0	1	1
chr11	90041513	90041513	C	G	exonic	TRIM49C	.	nonsynonymous SNV	TRIM49C:NM_001195234:exon8:c.C1322G:p.P441R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.185	0.00374006517992	.	.	.	.	.	.	.	.	.	.	.	.	.	rs776259545	2.203e-06	2.07e-06	2.913e-06	1.481e-06	2.891e-06	5.9e-07	1.6e-07	7.7e-07	2.1e-07	0	0	0	0	0	0	2.891e-06	0	0	1.078e-05	1.372e-05	0	2.291e-05	3.938e-05	0	0	.	.	3.938e-05	0	0	0	0	0	0	0	0	0	0.19	0.21144	T	0.36	0.16964	T	0.953	0.54283	P	0.905	0.64260	P	.	.	.	.	1	0.08975	N	1.915	0.51223	L	0.19	0.60236	T	-1.55	0.37566	N	0.15	0.15328	-0.9252	0.44829	T	0.192	0.54521	T	8	0.16687307	0.31149	T	0.00374	0.08682	T	0.185	0.45933	0.546	0.66015	0.185906805712	0.18197	0.0315758390285053	0.03106	1.96159394134	0.93462	0.50140440464	0.39024	T	0.025217	0.18900	T	-0.218358	0.18216	T	-0.551432	0.17188	T	0.186998590826988	0.19666	T	0.647135	0.25820	T	0.031133443	0.02898	0.051765874	0.08396	0.031133443	0.02897	0.051765874	0.08396	-5.95	0.45859	T	.	.	0.165	0.36436	B	.	.	0.566430	0.09351	6.130	0.93267411156921765	0.22964	0.00091	0.00603	N	AEFI	0.023590	0.01336	N	-0.79322920068111	0.13485	0.6646742	-1.10317810758511	0.07639	0.3723837	2.32264250919365E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.869	-1.74	0.07622	-0.911000	0.04159	-20.000000	0.00162	0.443000	0.21123	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	0.0:0.4046:0.3243:0.2711	2.386	0.04100	900	0.24599	SPRY domain|Butyrophylin-like, SPRY domain|B30.2/SPRY domain|SPRY 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	502.53	21	chr11	90041513	.	C	G	502.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-4.753;DP=176;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=35.58;MQRankSum=-3.514;QD=13.96;ReadPosRankSum=-0.617;SOR=0.693	GT:AD:DP:GQ:PL	0/1:18,18:36:99:513,0,617	6	0	1	0
chr11	94544731	94544731	G	A	exonic	FUT4	.	nonsynonymous SNV	FUT4:NM_002033:exon1:c.G598A:p.G200R	.	434	1073	13	2	0	17	0.00785945	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	.	0.0050	0.00219649	0.0126	0.0016	0.0078	0	0.0213	0.0193	0.0132	0.0032	0.0048253	746	154602	rs201519706	0.0094	0.0092	0.0096	0.0091	0.0105	0.0092	0.0092	0.0104	0.0103	0.0012	0.0047	0.0197	2.705e-05	0.0081	0.0055	0.0105	0.0075	0.0025	0.0067	0.0067	0.0072	0.0062	0.0099	0.0064	0.0062	0.0093	0.0090	0.0019	0.0033	0.0058	0.0239	0	0.0061	0.0102	0.0099	0.0076	0.0017	0.346	0.12469	T	0.577	0.08594	T	0.002	0.09854	B	0.006	0.12133	B	0.228016	0.15985	U	0.578909	1	0.08975	N	1.61	0.41143	L	1.91	0.23283	T	-1.3	0.32590	N	0.081	0.05670	-0.9846	0.33927	T	0.023	0.09832	T	10	0.0037264526	0.00069	T	.	.	.	0.018	0.03083	0.469	0.54214	0.173771789658	0.16945	0.545966886776455	0.54522	1.07679982734	0.77000	0.794945120811	0.81194	T	0.037335	0.24438	T	-0.57537	0.00206	T	-0.589861	0.13677	T	0.00287349530812968	0.00030	T	0.540346	0.18307	T	0.04525807	0.07378	0.051566597	0.08325	0.04525807	0.07378	0.051566597	0.08325	-3.744	0.19970	T	.	.	0.109	0.20702	B	.	.	1.132314	0.15190	11.66	0.93142993099454197	0.22788	0.05029	0.10812	N	AEFDBHCI	0.101107	0.20315	N	-1.32369092715106	0.03406	0.1520741	-1.32616571478158	0.04095	0.1924414	0.999999902486384	0.74766	0.56387	0.32371	0	0.218748	0.04544	0	0.503968	0.08637	0	0.492483	0.08430	1	.	.	4.28	1.37	0.21200	0.479000	0.21938	3.085000	0.36255	-0.424000	0.05221	0.000000	0.06391	0.999000	0.35428	0.071000	0.16709	0.3476:0.1899:0.4626:0.0	4.988	0.13544	818	0.41518	Fucosyltransferase, 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	0.006736	0.000000	0.005510	0.002994	0.000000	0.000000	0.012821	0.011364	0.07143	734.83	25	chr11	94544731	.	G	A	734.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.43;DP=172;ExcessHet=0;FS=10.324;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=17.5;ReadPosRankSum=1.93;SOR=0.474	GT:AD:DP:GQ:PL	0/1:13,29:42:99:745,0,286	6	0	1	0
chr11	95026213	95026213	A	G	exonic	KDM4E	.	nonsynonymous SNV	KDM4E:NM_001161630:exon1:c.A656G:p.H219R	.	434	1083	5	0	0	5	0.00230309	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.140	.	.	0.00479233	0.0041	0.0002	0.0003	0.0001	0	6.008e-05	0.0033	0.0290	0.0034734	537	154602	rs563454932	0.0018	0.0018	0.0010	0.0026	0.0280	0.0017	0.0017	0.0271	0.0267	0	0.0002	0	2.519e-05	0	0.0019	5.575e-05	0.0020	0.0280	0.0008	0.0008	0.0004	0.0013	0.0239	0.0007	0.0007	0.0204	0.0191	7.227e-05	0	0	0	0	0	0	8.829e-05	0.0009	0.0239	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999446	0.21182	N	-2.095	0.00157	N	-0.52	0.70717	T	4.56	0.00034	N	0.075	0.04913	-0.9170	0.45958	T	0.042	0.17952	T	9	0.0041848123	0.00083	T	.	.	.	0.140	0.37593	0.492	0.57890	0.043077524339	0.03247	0.47628530091073634	0.47548	0.431286790697	0.43342	0.722756564617	0.70449	T	0.004679	0.04092	T	-0.570353	0.00220	T	-0.570419	0.15411	T	0.020213558055547	0.00721	T	0.622038	0.23930	T	0.07239761	0.16100	0.041845765	0.04850	0.07239761	0.16100	0.041845765	0.04849	-1.189	0.01235	T	.	.	0.049	0.00107	B	.	.	-0.067603	0.03838	0.824	0.18754802748313712	0.00603	0.00161	0.00961	N	AEFGBI	0.014744	0.00248	N	-1.61909717250521	0.01172	0.05095243	-1.46445417317676	0.02642	0.1218672	0.598334702221061	0.21704	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.84	0.89	0.18352	0.710000	0.25421	1.776000	0.28675	-0.311000	0.06080	0.000000	0.06391	0.075000	0.22287	0.027000	0.12703	0.3259:0.0:0.6741:0.0	4.521	0.11363	944	0.12746	JmjC domain|JmjC domain|JmjC 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	0.004532	0.000000	0.000000	0.000000	0.000000	0.008621	0.003049	0.018939	0.07143	2751.44	41	chr11	95026213	.	A	G	2751.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.42;DP=464;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=59.6;MQRankSum=-3.793;QD=11.66;ReadPosRankSum=2.24;SOR=0.707	GT:AD:DP:GQ:PL	0/1:126,110:236:99:2762,0,3329	6	0	1	0
chr11	101062632	101062632	G	A	exonic	PGR	.	nonsynonymous SNV	PGR:NM_000926:exon4:c.C2027T:p.S676L,PGR:NM_001202474:exon4:c.C1535T:p.S512L,PGR:NM_001271162:exon4:c.C245T:p.S82L	.	1	1520	1	0	0	1	0.000328839	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.191	0.0273127792291	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1348573263	4.105e-06	4.104e-06	2.723e-06	5.501e-06	5.396e-06	1.48e-06	9.7e-07	1.94e-06	1.28e-06	0	0	0	0	0	0	5.396e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	0.49613	D	0.093	0.47336	T	0.983	0.60381	D	0.889	0.63100	P	0.038818	0.24242	N	0.444177	0.99988	0.81001	D	2.34	0.67151	M	1.08	0.39401	T	-3.59	0.69236	D	0.294	0.41952	-0.6328	0.63451	T	0.264	0.63555	T	10	0.3948059	0.55149	T	0.027313	0.50134	D	0.191	0.46948	0.43	0.47843	0.617811438573	0.61472	0.4416887717016699	0.44085	.	.	0.409538656473	0.26393	T	0.626272	0.88357	D	-0.104021	0.35758	T	-0.387196	0.34881	T	0.951486527919769	0.63572	D	0.931607	0.75876	D	0.29830423	0.52752	0.27874166	0.53837	0.29830423	0.52752	0.27874166	0.53836	-5.256	0.39784	T	.	.	0.079	0.07177	B	.;.;.;.	.;.;.;.	4.344840	0.66682	25.0	0.99907801671946317	0.97801	0.98599	0.84543	D	AEFI	0.887431	0.81968	D	0.684169912146127	0.78595	6.903434	0.664003079033879	0.79658	7.12905	0.819482280195119	0.24498	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.5	5.5	0.81386	7.616000	0.82218	11.796000	0.96513	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.676000	0.33425	0.0:0.0:1.0:0.0	19.387	0.94548	875	0.30485	.;.;.;.	.	.	.	.	.	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	1094.63	35	chr11	101062632	.	G	A	1094.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.54;DP=299;ExcessHet=0;FS=1.533;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.9;ReadPosRankSum=0.468;SOR=0.87	GT:AD:DP:GQ:PL	0/1:77,46:123:99:1105,0,1957	6	0	1	0
chr11	106010659	106010659	C	T	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.G259A:p.A87T,MSANTD4:NM_001318748:exon2:c.G259A:p.A87T,MSANTD4:NM_001318749:exon2:c.G259A:p.A87T,MSANTD4:NM_001318750:exon2:c.G259A:p.A87T,MSANTD4:NM_032424:exon2:c.G259A:p.A87T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.144	0.0031863420769	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.284	0.25457	T	0.456	0.54934	T	0.002	0.09854	B	0.003	0.08700	B	0.000011	0.62929	D	0.111292	0.991109	0.41309	D	0.55	0.14455	N	.	.	.	-1.05	0.27463	N	0.139	0.13769	-0.8825	0.49561	T	0.177	0.52240	T	9	0.14178061	0.26937	T	0.003186	0.06966	T	0.144	0.38394	0.324	0.30549	0.333651784274	0.32972	0.3745214875372276	0.37366	0.306637953789	0.32968	0.538885176182	0.44288	T	0.040073	0.25406	T	-0.0969372	0.36933	T	-0.37702	0.36071	T	0.432566970586777	0.30156	T	0.762724	0.38847	T	0.054357305	0.10418	0.07319845	0.15878	0.054357305	0.10417	0.07319845	0.15878	-3.821	0.21119	T	.	.	0.078	0.06663	B	.;.;.	.;.;.	3.124977	0.42209	21.5	0.99583064835214086	0.73099	0.90270	0.51314	D	AEFGBI	0.218300	0.34332	N	-0.0132163549372124	0.41258	2.464544	0.177121742542613	0.48595	3.073425	0.999902434550218	0.45458	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.88	5.88	0.94564	1.369000	0.33832	4.008000	0.41136	-0.176000	0.10722	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.145:0.7831:0.0:0.0719	9.319	0.37114	725	0.54935	.;.;.	.	.	.	.	.	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	6014.11	64	chr11	106010659	.	C	T	6014.11	.	AC=2;AF=0.25;AN=8;BaseQRankSum=-5.649;DP=935;ExcessHet=3.1439;FS=266.032;MLEAC=2;MLEAF=0.25;MQ=60;MQRankSum=0;QD=7.64;ReadPosRankSum=3.18;SOR=10.936	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:138,42:220:12:.:.:2637,0,5380:.	2	0	2	3
chr11	106010660	106010660	C	G	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.G258C:p.K86N,MSANTD4:NM_001318748:exon2:c.G258C:p.K86N,MSANTD4:NM_001318749:exon2:c.G258C:p.K86N,MSANTD4:NM_001318750:exon2:c.G258C:p.K86N,MSANTD4:NM_032424:exon2:c.G258C:p.K86N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.00140864098182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.794e-06	5.338e-05	6.814e-06	2.753e-06	1.16e-05	1.99e-06	1.28e-06	1.32e-06	9.6e-07	0	0	0	0	0	0	4.502e-06	1.657e-05	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.628	0.09572	T	0.455	0.12776	T	0.001	0.07471	B	0.002	0.06944	B	0.000777	0.41888	D	0.252245	0.672182	0.30354	N	1.1	0.28011	L	.	.	.	-0.42	0.25986	N	0.046	0.01825	-1.0800	0.07349	T	0.039	0.16935	T	9	0.07250753	0.10832	T	0.001409	0.02088	T	0.035	0.08770	0.333	0.32005	0.180583059064	0.17676	0.42697714804244885	0.42614	0.368530488454	0.38403	0.557739257812	0.46948	T	0.028728	0.20742	T	-0.209044	0.19513	T	-0.538054	0.18489	T	0.29334169626236	0.24729	T	0.788921	0.43637	T	0.06988713	0.15349	0.040901218	0.04526	0.06988713	0.15349	0.040901218	0.04526	-4.897	0.35701	T	.	.	0.261	0.51359	B	.;.;.	.;.;.	2.485158	0.32052	18.93	0.96605095872499003	0.30423	0.93307	0.57867	D	AEFGBI	0.282833	0.39607	N	-0.459278369652404	0.23427	1.257956	-0.24408778769958	0.29975	1.683831	0.956715357216671	0.28262	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.88	3.03	0.34070	0.769000	0.26267	2.724000	0.34335	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.2344:0.4203:0.1184:0.227	1.144	0.01662	725	0.54935	.;.;.	.	.	.	.	.	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	6438.8	64	chr11	106010660	.	C	G	6438.8	.	AC=4;AF=0.5;AN=8;BaseQRankSum=-2.366;DP=932;ExcessHet=3.1439;FS=287.19;MLEAC=5;MLEAF=0.625;MQ=60;MQRankSum=0;QD=8.22;ReadPosRankSum=3.22;SOR=9.673	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:138,93:231:99:0|1:106010660_C_G:3037,0,5377:106010660	0	0	4	3
chr11	106010663	106010663	C	T	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.G255A:p.M85I,MSANTD4:NM_001318748:exon2:c.G255A:p.M85I,MSANTD4:NM_001318749:exon2:c.G255A:p.M85I,MSANTD4:NM_001318750:exon2:c.G255A:p.M85I,MSANTD4:NM_032424:exon2:c.G255A:p.M85I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.00279040284091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.44694	D	0.465	0.47097	T	0.002	0.09854	B	0.004	0.10090	B	0.000001	0.84330	D	0.055431	0.902327	0.36202	D	-0.69	0.01958	N	.	.	.	-0.5	0.23156	N	0.133	0.12913	-0.9843	0.33998	T	0.104	0.38218	T	9	0.1143381	0.21509	T	0.00279	0.05810	T	0.047	0.12962	0.294	0.25720	0.256793551483	0.25290	0.12417175146048018	0.12343	0.345896987908	0.36490	0.592615962029	0.51864	T	0.021651	0.16823	T	-0.0923724	0.37684	T	-0.370463	0.36834	T	0.580747902393341	0.35647	D	0.831217	0.49813	T	0.22625625	0.45303	0.16779238	0.38690	0.22625625	0.45303	0.16779238	0.38689	-3.688	0.19141	T	.	.	0.249	0.48345	B	.;.;.	.;.;.	3.089872	0.41597	21.4	0.98105666193469465	0.38310	0.97626	0.75993	D	AEFGBI	0.400041	0.47508	N	-0.174858718993864	0.34183	1.948093	0.081881515894591	0.43638	2.661421	0.99999720305351	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.88	5.88	0.94564	1.803000	0.38500	5.949000	0.51615	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.8636:0.1364:0.0	15.669	0.77014	725	0.54935	Myb/SANT-like DNA-binding domain;Myb/SANT-like DNA-binding domain;Myb/SANT-like DNA-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	.	.	.	.	.	.	.	.	0.375	4841.7	72	chr11	106010663	.	C	T	4841.7	.	AC=3;AF=0.375;AN=8;BaseQRankSum=-4.068;DP=942;ExcessHet=3.1439;FS=240.854;MLEAC=4;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.98;ReadPosRankSum=3.4;SOR=10.859	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:139,62:231:99:.:.:2390,0,5443:.	1	0	3	3
chr11	106010664	106010664	A	G	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.T254C:p.M85T,MSANTD4:NM_001318748:exon2:c.T254C:p.M85T,MSANTD4:NM_001318749:exon2:c.T254C:p.M85T,MSANTD4:NM_001318750:exon2:c.T254C:p.M85T,MSANTD4:NM_032424:exon2:c.T254C:p.M85T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.00433488665054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.369e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.019	0.69154	D	0.007	0.14184	B	0.034	0.22546	B	0.000001	0.84330	D	0.055431	0.974346	0.39097	D	0	0.06538	N	.	.	.	-0.98	0.25986	N	0.258	0.29197	-0.9720	0.36776	T	0.117	0.41209	T	9	0.18700442	0.34192	T	0.004335	0.10529	T	0.101	0.28911	0.307	0.27806	0.379881503574	0.37595	0.25955710480305316	0.25869	0.399169766946	0.40951	0.666570842266	0.62349	T	0.035133	0.23597	T	0.00410563	0.52221	T	-0.231879	0.51589	T	0.783289670944214	0.45256	D	0.79692	0.44048	T	0.42211768	0.62233	0.30941108	0.56956	0.42211768	0.62233	0.30941108	0.56955	-1.765	0.02407	T	.	.	0.407	0.59964	A	.;.;.	.;.;.	3.510524	0.49159	22.7	0.97899140483582825	0.36731	0.98220	0.80657	D	AEFGBI	0.640959	0.61847	D	-0.0622681486623968	0.39056	2.297149	0.183205801398182	0.48926	3.102239	0.999999972724126	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.88	5.88	0.94564	6.214000	0.72143	11.169000	0.87908	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	16.275	0.82465	725	0.54935	Myb/SANT-like DNA-binding domain;Myb/SANT-like DNA-binding domain;Myb/SANT-like DNA-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	5505.39	72	chr11	106010664	.	A	G	5505.39	.	AC=4;AF=0.5;AN=8;BaseQRankSum=-2.258;DP=944;ExcessHet=3.1439;FS=239.419;MLEAC=5;MLEAF=0.625;MQ=60;MQRankSum=0;QD=6.77;ReadPosRankSum=3.45;SOR=10.876	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:139,94:233:99:0|1:106010660_C_G:3050,0,5407:106010660	0	0	4	3
chr11	106010667	106010667	C	T	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.G251A:p.R84K,MSANTD4:NM_001318748:exon2:c.G251A:p.R84K,MSANTD4:NM_001318749:exon2:c.G251A:p.R84K,MSANTD4:NM_001318750:exon2:c.G251A:p.R84K,MSANTD4:NM_032424:exon2:c.G251A:p.R84K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.00259240547793	.	0.000199681	8.238e-06	0	0	0	0	0	0	6.056e-05	1.29e-05	2	154602	rs561321456	6.841e-07	6.84e-07	0	1.375e-06	1.159e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.159e-05	6.572e-06	1.313e-05	1.286e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.218	0.19090	T	0.747	0.04860	T	0.0	0.02946	B	0.002	0.06944	B	0.002354	0.36727	N	0.299972	0.844051	0.35114	D	0.69	0.16971	N	.	.	.	-0.07	0.08495	N	0.114	0.10198	-0.8777	0.49943	T	0.136	0.45241	T	9	0.07382545	0.11204	T	0.002592	0.05235	T	0.042	0.11227	0.367	0.37524	0.274366138417	0.27033	0.40402514392590105	0.40318	0.389484333747	0.40189	0.525025010109	0.42334	T	0.028825	0.20791	T	-0.16679	0.25721	T	-0.380505	0.35662	T	0.222574869783589	0.21591	T	0.680032	0.28847	T	0.098485895	0.23231	0.10551929	0.25367	0.098485895	0.23231	0.10551929	0.25367	-3.047	0.10696	T	.	.	0.080	0.07697	B	.;.;.	.;.;.	2.801802	0.36860	20.4	0.67663913896592942	0.08422	0.86253	0.45498	D	AEFGBI	0.191163	0.31837	N	-0.163816012127879	0.34649	1.980253	0.0201264286488667	0.40651	2.429427	0.997302788968075	0.35478	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.88	4.01	0.45821	2.982000	0.49027	4.834000	0.45225	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.8616:0.0:0.1384	12.064	0.52876	725	0.54935	Myb/SANT-like DNA-binding domain;Myb/SANT-like DNA-binding domain;Myb/SANT-like DNA-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	.	.	.	.	.	.	.	.	0.375	4766.7	66	chr11	106010667	.	C	T	4766.7	.	AC=3;AF=0.375;AN=8;BaseQRankSum=-4.542;DP=966;ExcessHet=3.1439;FS=231.764;MLEAC=4;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.73;ReadPosRankSum=4.07;SOR=10.85	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:144,62:236:99:.:.:2376,0,5469:.	1	0	3	3
chr11	108393341	108393341	G	A	exonic	C11orf65	.	nonsynonymous SNV	C11orf65:NM_001330368:exon5:c.C451T:p.H151Y,C11orf65:NM_001351110:exon6:c.C505T:p.H169Y,C11orf65:NM_152587:exon7:c.C598T:p.H200Y	.	429	1089	4	0	0	4	0.00183318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.00142466595705	0.0033	0.00159744	0.0031	0.0010	0.0013	0	0.0002	0.0044	0.0011	0.0030	0.0031047	480	154602	rs137901968	0.0043	0.0043	0.0042	0.0044	0.0049	0.0042	0.0042	0.0048	0.0047	0.0008	0.0025	0.0051	2.521e-05	0.0004	0.0014	0.0049	0.0043	0.0034	0.0034	0.0034	0.0036	0.0032	0.0067	0.0032	0.0031	0.0056	0.0052	0.0008	0	0.0067	0.0040	0	0.0007	0	0.0051	0.0052	0.0017	0.149	0.26192	T	0.086	0.44302	T	0.0	0.02946	B	0.001	0.04355	B	0.000065	0.00414	N	3.664140	1	0.08975	N	-0.35	0.03145	N	1.52	0.30669	T	-0.9	0.24244	N	0.219	0.28381	-1.0358	0.18606	T	0.025	0.10910	T	10	0.004632592	0.00097	T	0.001425	0.02113	T	0.042	0.11227	.	.	0.192905019026	0.18896	0.03895708595876958	0.03841	0.11852074789	0.13345	.	.	.	0.014941	0.12627	T	-0.654347	0.00068	T	-0.710781	0.05255	T	0.00916749033956144	0.00116	T	0.0712929	0.00680	T	0.040328994	0.05735	0.04746531	0.06844	0.040328994	0.05735	0.04746531	0.06843	-3.901	0.23143	T	.	.	0.082	0.08997	B	.;.;.;.;.	.;.;.;.;.	-0.927581	0.00880	0.032	0.66627587341138883	0.08114	0.01409	0.04766	N	AEFDI	0.054284	0.09858	N	-1.70251596831542	0.00833	0.03601972	-1.84883497735651	0.00615	0.02732961	0.999997631954574	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.54	-11.1	0.00116	-2.431000	0.01100	-2.283000	0.03953	-0.780000	0.03343	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3845:0.1295:0.2102:0.2758	0.920	0.01230	340	0.86005	.;.;.;.;.	.	.	.	.	.	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	0.004076	0.000000	0.000000	0.000000	0.003049	0.000000	0.07143	1565.44	33	chr11	108393341	.	G	A	1565.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.52;DP=310;ExcessHet=0;FS=2.335;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.33;ReadPosRankSum=1.83;SOR=0.937	GT:AD:DP:GQ:PL	0/1:63,64:127:99:1576,0,1453	6	0	1	0
chr11	111737492	111737492	T	A	exonic	PPP2R1B	.	nonsynonymous SNV	PPP2R1B:NM_181700:exon13:c.A1675T:p.N559Y,PPP2R1B:NM_181699:exon15:c.A1867T:p.N623Y	Lung cancer, Autosomal recessive	0	1483	38	1	0	40	0.0133067	.	.	.	2809843	PPP2R1B-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.094	.	0.0076	0.00199681	0.0057	0.0026	0.0044	0	0.0029	0.0086	0.0077	0.0007	0.0060995	943	154602	rs61756429	0.0073	0.0074	0.0074	0.0073	0.0163	0.0072	0.0072	0.0136	0.0126	0.0021	0.0050	0.0020	0	0.0036	0.0163	0.0087	0.0069	0.0009	0.0064	0.0064	0.0066	0.0062	0.0103	0.0061	0.0059	0.0096	0.0094	0.0025	0.0252	0.0058	0.0009	0	0.0031	0.0204	0.0103	0.0071	0.0010	0.003	0.72154	D	0.008	0.67890	D	0.965	0.56013	D	0.66	0.52803	P	0.243438	0.15662	N	0.617749	0.828419	0.35492	D	.	.	.	.	.	.	-0.6	0.17834	N	0.412	0.50327	-1.0335	0.19332	T	0.069	0.28180	T	9	0.0037582517	0.00070	T	.	.	.	0.094	0.27141	.	.	0.473616572423	0.46988	0.22862141231157473	0.22777	0.340094388157	0.35952	0.491730928421	0.37679	T	.	.	.	-0.359734	0.04145	T	-0.280114	0.46792	T	0.0228719775258281	0.01009	T	0.693531	0.30321	T	.	.	.	.	.	.	.	.	-4.111	0.26679	T	.	.	0.078	0.06942	B	.;.	.;.	2.370131	0.30412	18.43	0.98138998197519878	0.38588	0.76163	0.37334	D	AEFDGBHCI	0.205005	0.33140	N	0.0101333165650002	0.42315	2.54729	0.0417641372417915	0.41674	2.507797	0.999999981257004	0.74766	0.729952	0.87565	0	0.577304	0.33150	0	0.489635	0.07774	0	0.692231	0.68500	0	.	.	5.25	4.13	0.47661	1.859000	0.39058	1.581000	0.27475	0.644000	0.52426	1.000000	0.71638	0.991000	0.31484	0.723000	0.34869	0.0:0.0914:0.0:0.9086	7.918	0.28989	100	0.95872	.;.	C11orf52	Brain_Cerebellum	PPP2R1B|PPP2R1B	Adipose_Subcutaneous|Adipose_Subcutaneous	.	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	0.014099	0.020202	0.017663	0.023392	0.050000	0.000000	0.009146	0.003788	0.07143	924.44	34	chr11	111737492	.	T	A	924.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.644;DP=282;ExcessHet=0;FS=1.618;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.98;ReadPosRankSum=1.36;SOR=0.533	GT:AD:DP:GQ:PL	0/1:62,41:103:99:935,0,1565	6	0	1	0
chr11	113340695	113340695	T	A	exonic	TTC12	.	nonsynonymous SNV	TTC12:NM_001352037:exon10:c.T783A:p.N261K,TTC12:NM_001318533:exon11:c.T876A:p.N292K,TTC12:NM_001378063:exon11:c.T861A:p.N287K,TTC12:NM_001378064:exon11:c.T858A:p.N286K,TTC12:NM_001378065:exon11:c.T858A:p.N286K,TTC12:NM_017868:exon11:c.T858A:p.N286K	.	429	1090	2	1	0	4	0.0018315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.0183065227825	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	0	2.75e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.45393	D	0.016	0.60972	D	0.905	0.49920	P	0.372	0.43610	B	0.310064	0.14449	N	0.698695	0.994039	0.23600	N	2.515	0.73286	M	2.43	0.52187	T	-1.66	0.39692	N	0.311	0.35088	-0.9598	0.39218	T	0.125	0.42903	T	10	0.22196582	0.38936	T	0.018307	0.40331	T	0.091	0.26358	0.541	0.65304	0.594169782683	0.59095	0.6274882021482098	0.62681	0.0875180679987	0.09869	0.310230106115	0.11941	T	0.050454	0.28601	T	-0.21742	0.18347	T	-0.550085	0.17319	T	0.835453748703003	0.48960	D	0.848915	0.57175	T	0.05115672	0.09354	0.061168607	0.11769	0.05115672	0.09353	0.061168607	0.11768	-7.406	0.57891	T	0.16954393745866886	0.21265	0.189	0.46436	B	.;.;.;.;.	.;.;.;.;.	2.113149	0.26894	17.28	0.98057803590654202	0.37921	0.88561	0.48546	D	AEFDBI	0.277115	0.39170	N	0.0951292334900809	0.46235	2.867055	0.0544864072932453	0.42288	2.555294	0.615519582487752	0.21840	0.732398	0.92422	0	0.743671	0.97443	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	5.22	2.8	0.31881	2.244000	0.42775	-1.758000	0.04780	0.665000	0.62972	1.000000	0.71638	0.000000	0.08366	0.968000	0.53726	0.1565:0.0859:0.0:0.7577	5.270	0.14930	791	0.46100	.;.;.;.;.	.	.	.	.	.	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	1451.44	40	chr11	113340695	.	T	A	1451.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.02;DP=321;ExcessHet=0;FS=2.303;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.8;ReadPosRankSum=-1.144;SOR=0.943	GT:AD:DP:GQ:PL	0/1:62,61:123:99:1462,0,1582	6	0	1	0
chr11	113986146	113986146	A	C	exonic	HTR3A	.	nonsynonymous SNV	HTR3A:NM_000869:exon6:c.A676C:p.S226R,HTR3A:NM_001161772:exon6:c.A631C:p.S211R,HTR3A:NM_213621:exon6:c.A676C:p.S226R	.	423	1096	3	0	0	3	0.00136674	.	.	.	4157848	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.283	0.0243046991873	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1320582235	1.094e-05	1.094e-05	5.445e-06	1.65e-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	6.57e-06	6.566e-06	0	1.345e-05	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.312	0.27310	T	0.545	0.09588	T	.	.	.	.	.	.	0.000160	0.49130	N	0.249058	0.975494	0.81001	D	1.99	0.53851	M	-1.19	0.78427	T	-1.86	0.43524	N	0.287	0.36043	-0.7536	0.57747	T	0.268	0.63918	T	10	0.21344844	0.37836	T	0.024305	0.47297	T	0.283	0.60100	0.506	0.60078	0.720123150956	0.71765	0.5713069948344575	0.57058	0.104774389895	0.11852	0.40300437808	0.25487	T	0.424388	0.77484	T	-0.0802723	0.39672	T	-0.353082	0.38852	T	0.234493732452393	0.22164	T	0.70393	0.31399	T	0.12413864	0.29134	0.11178295	0.26967	0.12413864	0.29134	0.11178295	0.26966	-5.821	0.45876	T	.	.	0.178	0.52360	B	.;.;.;.;.	.;.;.;.;.	1.652888	0.21087	15.04	0.87318101782771895	0.17141	0.97459	0.74885	D	AEFDBI	0.714793	0.66716	D	-0.42725602463249	0.24518	1.324391	-0.336399950903092	0.26932	1.491049	0.126204337218317	0.16994	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.19	5.19	0.71428	4.808000	0.62274	6.094000	0.53477	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.028000	0.12845	0.9228:0.0:0.0772:0.0	9.824	0.40067	933	0.16026	Neurotransmitter-gated ion-channel ligand-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	.	.	.	.	.	.	.	.	0.07143	1249.49	33	chr11	113986146	.	A	C	1249.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.234;DP=279;ExcessHet=0;FS=1.586;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.01;ReadPosRankSum=0.981;SOR=0.877	GT:AD:DP:GQ:PL	0/1:45,59:104:99:1260,0,926	6	0	1	0
chr11	118613842	118613842	C	A	exonic	PHLDB1	.	nonsynonymous SNV	PHLDB1:NM_001144758:exon2:c.C6A:p.D2E,PHLDB1:NM_001144759:exon2:c.C6A:p.D2E,PHLDB1:NM_015157:exon3:c.C6A:p.D2E	.	417	1102	3	0	0	3	0.00135931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.0165573545967	.	.	8.834e-06	0	0	0	0	1.594e-05	0	0	6.5e-06	1	154602	rs201929347	1.781e-05	1.915e-05	1.091e-05	2.478e-05	7.205e-06	1.239e-05	1.053e-05	3.1e-06	2.24e-06	0	0	0.0005	0	0	0	7.205e-06	8.289e-05	0	3.945e-05	3.941e-05	2.571e-05	5.383e-05	1.47e-05	1.716e-05	1.13e-05	.	.	0	0	0	0.0014	0	0	0	1.47e-05	0	0	0.146	0.25055	T	0.378	0.22962	T	0.051	0.22415	B	0.013	0.16460	B	0.049633	0.23143	N	0.454468	0.999624	0.20843	N	1.245	0.31408	L	1.3	0.35590	T	-1.18	0.30140	N	0.208	0.23125	-0.9823	0.34468	T	0.040	0.17149	T	10	0.033192277	0.01488	T	0.016557	0.37875	T	0.015	0.02232	0.229	0.15556	0.161926535498	0.15789	0.39848362457372793	0.39763	0.236559005036	0.26193	0.467112183571	0.34284	T	0.019125	0.15291	T	-0.216115	0.18527	T	-0.532725	0.19015	T	0.0620052814483643	0.07481	T	0.567243	0.20104	T	0.07513612	0.16907	0.051396582	0.08264	0.07513612	0.16907	0.051396582	0.08264	-2.244	0.04259	T	.	.	0.126	0.27069	B	.;.;.;.;.	.;.;.;.;.	0.988111	0.13658	10.20	0.95779560939661779	0.27799	0.06155	0.12136	N	AEFBI	0.094473	0.19100	N	-1.12505183450548	0.06201	0.2847868	-1.16456779457591	0.06510	0.313602	0.999908780784035	0.45458	0.722319	0.85440	0	0.563428	0.19063	0	0.527494	0.11647	0	0.735409	0.98432	0	.	.	5.56	-3.45	0.04479	-0.661000	0.05410	-3.470000	0.02762	-0.202000	0.08738	0.000000	0.06391	0.000000	0.08366	0.708000	0.34389	0.0:0.3612:0.1721:0.4667	6.514	0.21436	316	0.87161	.;.;.;.;.	.	.	.	.	.	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	510.49	33	chr11	118613842	.	C	A	510.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.423;DP=226;ExcessHet=0;FS=2.597;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.34;ReadPosRankSum=-0.909;SOR=0.352	GT:AD:DP:GQ:PL	0/1:22,23:45:99:521,0,576	6	0	1	0
chr11	118660658	118660658	A	G	exonic	TREH	.	nonsynonymous SNV	TREH:NM_001301065:exon9:c.T890C:p.I297T,TREH:NM_007180:exon10:c.T983C:p.I328T	Trehalase deficiency	9	1502	11	0	0	11	0.00364842	.	.	.	3409315	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.040	0.00350055060882	0.0041	0.000998403	0.0037	0.0029	0.0029	0	0	0.0055	0.0018	0.0014	0.0024256	375	154602	rs200440695	0.0044	0.0044	0.0046	0.0042	0.0056	0.0043	0.0043	0.0051	0.0051	0.0008	0.0016	0.0016	2.536e-05	9.451e-05	0.0056	0.0053	0.0043	0.0016	0.0028	0.0028	0.0030	0.0025	0.0046	0.0026	0.0025	0.0041	0.0040	0.0013	0	0.0029	0.0006	0	0	0.0034	0.0046	0.0014	0.0019	0.039	0.42487	D	0.002	0.79402	D	0.155	0.28155	B	0.1	0.30674	B	0.927565	0.07515	N	1.032410	1	0.08975	N	.	.	.	1.99	0.21666	T	-2.22	0.50337	N	0.124	0.17966	-0.9561	0.39898	T	0.023	0.09832	T	9	0.004912615	0.00105	T	0.003501	0.07939	T	0.040	0.10527	.	.	0.0762999501168	0.06990	0.39121967931502216	0.39036	0.056584794161	0.06250	0.380212664604	0.22287	T	0.15081	0.49046	T	-0.606908	0.00132	T	-0.643742	0.09399	T	0.00433510021244433	0.00046	T	0.724828	0.33863	T	0.047562618	0.08151	0.07519413	0.16528	0.047562618	0.08151	0.07519413	0.16528	-4.986	0.37897	T	.	.	0.061	0.01075	B	.;.	.;.	1.519233	0.19508	14.30	0.87251620157261844	0.17095	0.07549	0.13562	N	AEFDBCI	0.060226	0.11432	N	-0.94904367902249	0.09713	0.4609674	-0.972955120076944	0.10395	0.523282	0.999955890966683	0.48110	0.615755	0.39536	0	0.563428	0.19063	0	0.618376	0.41669	0	0.664235	0.64389	0	.	.	5.24	1.64	0.22949	1.665000	0.37066	1.752000	0.28483	-0.065000	0.16512	0.022000	0.19841	0.002000	0.18203	0.368000	0.26066	0.567:0.0:0.433:0.0	6.804	0.22951	316	0.87161	.;.	.	.	.	.	.	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	0.006042	0.015152	0.002717	0.008772	0.000000	0.034483	0.000000	0.000000	0.07143	1511.46	34	chr11	118660658	.	A	G	1511.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.314;DP=317;ExcessHet=0;FS=4.108;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.28;ReadPosRankSum=-0.494;SOR=1.048	GT:AD:DP:GQ:PL	0/1:69,65:134:99:1522,0,1649	6	0	1	0
chr11	119150009	119150009	C	T	exonic	ABCG4	.	nonsynonymous SNV	ABCG4:NM_001142505:exon2:c.C44T:p.P15L,ABCG4:NM_001348191:exon2:c.C44T:p.P15L,ABCG4:NM_022169:exon2:c.C44T:p.P15L	.	416	1082	22	2	0	26	0.0118721	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	.	0.0075	0.00359425	0.0098	0.0010	0.0039	0	0.0429	0.0113	0.0116	0.0057	0.0089197	1379	154602	rs113286118	0.0087	0.0088	0.0087	0.0088	0.0089	0.0086	0.0086	0.0087	0.0087	0.0009	0.0042	0.0029	2.519e-05	0.0322	0.0077	0.0089	0.0076	0.0051	0.0080	0.0081	0.0069	0.0092	0.0090	0.0077	0.0075	0.0084	0.0082	0.0014	0.0022	0.0041	0.0037	0.0004	0.0409	0.0034	0.0090	0.0081	0.0042	0.002	0.72154	D	0.007	0.70582	D	0.897	0.49385	P	0.11	0.31460	B	0.000002	0.62929	D	0.060836	0.999968	0.52935	D	1.935	0.51832	L	3.24	0.06845	T	-1.17	0.29933	N	0.247	0.28028	-1.0362	0.18481	T	0.013	0.04938	T	10	0.004887998	0.00104	T	.	.	.	0.125	0.34456	.	.	0.682096102456	0.67939	0.39496038803249733	0.39411	.	.	0.59180533886	0.51749	T	0.15108	0.49086	T	-0.492883	0.00627	T	-0.471374	0.25369	T	0.0296305477632103	0.01933	T	0.819218	0.47714	T	0.18684475	0.40111	0.18629368	0.41794	0.18684475	0.40111	0.18629368	0.41793	-5.226	0.39205	T	.	.	0.125	0.26419	B	.;.;.;.	.;.;.;.	3.511807	0.49179	22.7	0.99813081388684832	0.89708	0.54838	0.29714	D	AEFDBCI	0.276283	0.39106	N	0.00217070683941212	0.41955	2.518879	0.0239417855891425	0.40829	2.442973	0.999899937018009	0.45129	0.582742	0.33608	0	0.563428	0.19063	0	0.503968	0.08637	0	0.620976	0.48614	0	.	.	4.9	4.9	0.63643	0.345000	0.19720	5.866000	0.50483	0.596000	0.33519	0.048000	0.21332	1.000000	0.68203	0.980000	0.58198	0.0:0.8456:0.1544:0.0	13.644	0.61743	228	0.91137	.;.;.;.	.	.	.	.	rs113286118	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	0.005544	0.015152	0.002717	0.005848	0.000000	0.008621	0.006135	0.007576	0.07143	702.63	34	chr11	119150009	.	C	T	702.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.6;DP=217;ExcessHet=0;FS=1.113;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.05;ReadPosRankSum=-0.838;SOR=0.976	GT:AD:DP:GQ:PL	0/1:23,27:50:99:713,0,503	6	0	1	0
chr11	124440622	124440622	C	T	exonic	OR8B8	.	nonsynonymous SNV	OR8B8:NM_012378:exon1:c.G464A:p.G155E	.	424	1062	34	2	0	38	0.0175763	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.135	0.00438921995786	0.0021	0.000998403	0.0028	0.0002	0.0010	0	0.0002	0.0026	0.0077	0.0085	0.0024644	381	154602	rs140865479	0.0024	0.0024	0.0022	0.0026	0.0094	0.0023	0.0023	0.0078	0.0076	0.0004	0.0015	0.0113	0	1.872e-05	0.0094	0.0020	0.0029	0.0083	0.0020	0.0020	0.0020	0.0021	0.0064	0.0018	0.0018	0.0047	0.0041	0.0004	0	0.0030	0.0127	0	9.425e-05	0	0.0024	0.0028	0.0064	0.065	0.36310	T	0.106	0.37872	T	0.848	0.46844	P	0.651	0.52497	P	0.031170	0.25205	N	0.280453	1	0.08975	N	1.46	0.36832	L	1.21	0.37230	T	-5.93	0.89029	D	0.161	0.16864	-0.9993	0.30115	T	0.113	0.40354	T	10	0.008491397	0.00192	T	0.004389	0.10718	T	0.135	0.36572	.	.	0.667980572847	0.66518	0.6225345544862408	0.62186	0.0525529913828	0.05790	0.266837418079	0.05732	T	0.019694	0.15640	T	-0.446841	0.01179	T	-0.408376	0.32412	T	0.0992580273878766	0.12276	T	0.412859	0.10744	T	0.35347536	0.57336	0.3822487	0.63215	0.35347536	0.57337	0.3822487	0.63215	-7.199	0.55474	T	.	.	0.447	0.62038	A	.;.	.;.	4.085704	0.60807	24.3	0.99434978174576394	0.64472	0.08460	0.14386	N	AEFBCI	0.068063	0.13408	N	0.101083701202438	0.46514	2.890536	0.0160951037361045	0.40462	2.415092	0.999707412909964	0.41986	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	3.52	3.52	0.39415	0.418000	0.20950	.	.	0.599000	0.40250	0.001000	0.13787	0.206000	0.23607	0.974000	0.55675	0.0:0.7221:0.0:0.2779	4.610	0.11784	769	0.49307	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	0.008056	0.000000	0.008152	0.005848	0.000000	0.017241	0.012195	0.007576	0.07143	2776.44	34	chr11	124440622	.	C	T	2776.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.042;DP=423;ExcessHet=0;FS=1.561;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.57;ReadPosRankSum=0.58;SOR=0.585	GT:AD:DP:GQ:PL	0/1:128,112:240:99:2787,0,3282	6	0	1	0
chr11	125672681	125672681	T	A	exonic	ACRV1	.	nonsynonymous SNV	ACRV1:NM_001612:exon4:c.A710T:p.N237I,ACRV1:NM_020069:exon4:c.A653T:p.N218I,ACRV1:NM_020107:exon5:c.A545T:p.N182I,ACRV1:NM_020108:exon5:c.A500T:p.N167I	.	418	1065	38	1	0	40	0.0184332	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.184	.	0.0002	0.00579073	0.0036	0	0.0010	0	0	0.0005	0.0044	0.0236	0.0030983	479	154602	rs184197662	0.0017	0.0017	0.0010	0.0025	0.0240	0.0017	0.0017	0.0232	0.0228	8.961e-05	0.0008	0	0	1.873e-05	0.0097	0.0002	0.0019	0.0240	0.0011	0.0011	0.0006	0.0015	0.0251	0.0009	0.0009	0.0214	0.0201	0	0	0.0005	0	0	0	0	0.0004	0.0009	0.0251	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.97372	D	0.011998	0.29328	N	0.291061	0.656204	0.81001	D	1.905	0.50856	L	1.57	0.29342	T	-5.14	0.88630	D	0.522	0.64818	-0.7813	0.56229	T	0.147	0.47219	T	10	0.00742808	0.00169	T	.	.	.	0.184	0.45763	.	.	0.472023113445	0.46832	0.9534485741236809	0.95328	0.960301610964	0.72978	0.589977860451	0.51490	T	0.264658	0.63646	T	-0.342706	0.05203	T	-0.246796	0.50133	T	0.0914855388333716	0.11393	T	0.834017	0.50357	T	0.49996746	0.67093	0.6530602	0.79694	0.49996746	0.67094	0.6530602	0.79695	-6.564	0.50778	T	.	.	0.853	0.80271	P	.;.;.;.	.;.;.;.	3.751031	0.53764	23.4	0.99148411535129477	0.53737	0.56114	0.30034	D	AEFBI	0.169485	0.29632	N	0.342899889016158	0.58365	4.008343	0.240965533976628	0.52137	3.390609	0.109473373003907	0.16608	0.372202	0.05800	0	0.546412	0.12157	0	0.514364	0.09456	0	0.52698	0.09003	0	.	.	4.26	1.85	0.24418	1.054000	0.30064	1.183000	0.24710	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.1028:0.1966:0.7006	4.508	0.11307	491	0.76657	.;.;.;.	.	.	.	.	.	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	0.002717	0.005848	0.000000	0.000000	0.009146	0.018939	0.07143	1137.46	33	chr11	125672681	.	T	A	1137.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.074;DP=281;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.37;ReadPosRankSum=-1.646;SOR=0.627	GT:AD:DP:GQ:PL	0/1:52,48:100:99:1148,0,1249	6	0	1	0
chr11	130428225	130428225	A	0	exonic	ADAMTS8	.	.	.	.	0	70	1	0	155	156	0.0070922	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	44.96	9	chr11	130428225	.	A	*	44.96	.	AC=5;AF=0.357;AN=14;BaseQRankSum=1.59;DP=106;ExcessHet=1.4958;FS=1.17;MLEAC=5;MLEAF=0.357;MQ=60;MQRankSum=0;QD=0.96;ReadPosRankSum=1.73;SOR=0.474	GT:AD:DP:GQ:PL	0/1:8,2:10:60:60,0,327	3	1	3	0
chr12	4591261	4591261	G	C	exonic	DYRK4	.	nonsynonymous SNV	DYRK4:NM_003845:exon3:c.G81C:p.K27N,DYRK4:NM_001371301:exon5:c.G426C:p.K142N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.0114393036777	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.479e-06	0.0002	5.452e-06	5.506e-06	1.16e-05	2.36e-06	1.7e-06	2.62e-06	1.69e-06	0	0	0	0	0	0	6.303e-06	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.314	0.13834	T	0.401	0.14961	T	0.346	0.33564	B	0.084	0.29270	B	0.121393	0.18998	N	0.456574	1	0.08975	N	1.725	0.44537	L	-0.08	0.63911	T	0.73	0.02068	N	0.144	0.14480	-0.9982	0.30423	T	0.134	0.44720	T	10	0.07988778	0.12903	T	0.011439	0.29067	T	0.029	0.06676	0.269	0.21735	0.558735321446	0.55534	0.18653166389102285	0.18571	0.09495456672	0.10722	0.417934507132	0.27553	T	9.22E-4	0.00478	T	-0.259265	0.12987	T	-0.610193	0.11969	T	0.123014807701111	0.14722	T	0.59544	0.22079	T	0.04078166	0.05886	0.040100157	0.04256	0.04078166	0.05886	0.040100157	0.04256	-4.202	0.26780	T	.	.	0.104	0.18869	B	.;.;.	.;.;.	0.165782	0.05554	2.014	0.79475724993608643	0.12759	0.01358	0.04650	N	AEFDBI	0.066344	0.12987	N	-1.06848562840135	0.07230	0.3352268	-1.19599880480459	0.05976	0.2863112	2.00585938924982E-4	0.05898	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	4.34	-2.7	0.05651	-0.445000	0.06918	0.067000	0.14209	-0.678000	0.04252	0.001000	0.13787	0.000000	0.08366	0.446000	0.27806	0.499:0.1481:0.3529:0.0	5.450	0.15851	834	0.38640	.;.;.	.	.	.	.	.	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	1125.34	42	chr12	4591261	.	G	C	1125.34	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-0.171;DP=375;ExcessHet=3.1439;FS=570.035;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=4.69;ReadPosRankSum=0.45;SOR=9.855	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:44,32:80:99:.:.:390,0,413:.	2	0	4	1
chr12	8539902	8539902	C	A	exonic	CLEC4E	.	nonsynonymous SNV	CLEC4E:NM_014358:exon2:c.G83T:p.G28V	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.213	.	7.7e-05	0.00259585	0.0009	9.658e-05	0	0	0	6.001e-05	0.0011	0.0061	0.0007956	123	154602	rs368572057	0.0004	0.0004	0.0003	0.0006	0.0067	0.0004	0.0004	0.0063	0.0061	2.989e-05	2.236e-05	0	0	0	0.0005	2.341e-05	0.0005	0.0067	0.0003	0.0003	0.0002	0.0004	0.0079	0.0002	0.0002	0.0059	0.0052	0	0	0	0	0.0002	0	0	4.412e-05	0	0.0079	1.0	0.59928	T	0.959	0.54541	T	0.931	0.51899	P	0.476	0.46961	P	0.007080	0.31620	N	0.144869	0.997357	0.43821	D	1.225	0.30651	L	4.29	0.36330	T	1.43	0.35597	N	0.445	0.60495	-1.0565	0.12646	T	0.033	0.14247	T	10	0.005397737	0.00119	T	.	.	.	0.213	0.50496	.	.	0.598386477769	0.59519	0.39503791895652574	0.39418	0.266669290768	0.29206	0.334035992622	0.15542	T	0.034591	0.23382	T	-0.41674	0.01795	T	-0.367389	0.37195	T	0.0432070787392041	0.04275	T	0.771723	0.40231	T	0.07759344	0.17622	0.07429538	0.16237	0.07759344	0.17621	0.07429538	0.16236	-2.683	0.07161	T	.	.	0.089	0.12276	B	.;.;.	.;.;.	1.570342	0.20107	14.59	0.9923447793242417	0.56342	0.24833	0.22515	N	AEFBI	0.073961	0.14811	N	-0.583518201186047	0.19446	1.017776	-0.593992747947288	0.19648	1.05517	0.99958913027499	0.40607	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	3.98	3.06	0.34374	1.183000	0.31651	2.480000	0.32936	0.599000	0.40250	0.098000	0.22752	0.985000	0.30750	0.016000	0.10718	0.0:0.7837:0.2163:0.0	9.504	0.38201	964	0.07719	.;.;.	.	.	.	.	.	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	0.000000	0.000000	0.000000	0.003049	0.003788	0.07143	1232.83	34	chr12	8539902	.	C	A	1232.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.475;DP=269;ExcessHet=0;FS=0.832;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.7;ReadPosRankSum=0.182;SOR=0.531	GT:AD:DP:GQ:PL	0/1:35,55:90:99:1243,0,813	6	0	1	0
chr12	10450556	10450556	G	A	exonic	KLRC1	.	nonsynonymous SNV	KLRC1:NM_002259:exon3:c.C211T:p.L71F,KLRC1:NM_007328:exon3:c.C211T:p.L71F,KLRC1:NM_001304448:exon4:c.C211T:p.L71F,KLRC1:NM_213657:exon4:c.C211T:p.L71F,KLRC1:NM_213658:exon4:c.C211T:p.L71F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	0.00141508426883	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.86e-07	6.841e-07	0	1.378e-06	9.022e-07	0	0	.	.	0	0	0	0	0	0	9.022e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	0.29959	T	0.159	0.31833	T	0.023	0.29318	B	0.038	0.41006	B	0.006588	0.31929	N	0.147635	0.932098	0.27030	N	2.655	0.77738	M	2.2	0.18570	T	-2.6	0.55983	D	0.09	0.14338	-1.0241	0.22377	T	0.058	0.24428	T	10	0.07306573	0.10990	T	0.001415	0.02088	T	0.055	0.15663	0.435	0.48664	0.0762999501168	0.06990	0.18355798802211948	0.18274	0.0558337906702	0.06170	0.314549088478	0.12594	T	0.420332	0.77207	T	-0.219078	0.18118	T	-0.552467	0.17089	T	0.299999828032544	0.25004	T	0.623338	0.24114	T	0.07667325	0.17355	0.076360516	0.16904	0.07667325	0.17355	0.076360516	0.16903	-6.592	0.51138	T	.	.	0.099	0.16582	B	.;.;.;.;.	.;.;.;.;.	0.557630	0.09259	6.044	0.95869813873891929	0.28044	0.05248	0.11083	N	AEFDGI	0.093960	0.19004	N	-1.00571460951074	0.08485	0.3979927	-1.04643631548098	0.08781	0.4334551	5.26026630357321E-5	0.04171	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	3.7	0.681	0.17152	-0.101000	0.10943	-1.117000	0.06280	-1.508000	0.01019	0.012000	0.18695	0.000000	0.08366	0.003000	0.05239	0.1086:0.3592:0.5322:0.0	6.253	0.20064	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	.	.	.	.	.	.	.	.	0.1667	90.96	31	chr12	10450556	.	G	A	90.96	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.747;DP=258;ExcessHet=0.4139;FS=103.47;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=1.01;ReadPosRankSum=0.721;SOR=6.182	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:38,10:50:35:.:.:35,0,699:.	4	0	2	1
chr12	10806817	10806817	C	A	exonic	TAS2R8	.	nonsynonymous SNV	TAS2R8:NM_023918:exon1:c.G164T:p.R55I	.	437	1072	12	1	0	14	0.00648749	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.257	.	0.0038	0.00539137	0.0043	0.0012	0.0029	0.0001	0.0015	0.0050	0.0044	0.0079	0.0042755	661	154602	rs142540719	0.0048	0.0048	0.0047	0.0049	0.0096	0.0047	0.0047	0.0090	0.0088	0.0007	0.0035	0.0055	2.52e-05	0.0026	0.0059	0.0048	0.0059	0.0096	0.0037	0.0037	0.0037	0.0037	0.0128	0.0034	0.0033	0.0103	0.0094	0.0009	0.0022	0.0040	0.0049	0.0002	0.0027	0.0068	0.0050	0.0052	0.0128	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.434370	0.12708	U	0.682034	0.988337	0.40745	D	3.63	0.94006	H	1.2	0.37405	T	-7.8	0.95924	D	0.527	0.55626	-0.6104	0.64387	T	0.223	0.58742	T	10	0.013548523	0.00287	T	.	.	.	0.257	0.56827	.	.	0.377976839388	0.37411	0.2103716931649371	0.20953	0.0063831523443	0.00556	0.283663511276	0.08008	T	0.224698	0.58921	T	-0.258535	0.13073	T	-0.138454	0.60251	T	0.082055394761757	0.10248	T	.	.	.	0.66386664	0.76106	0.8723281	0.93026	0.66386664	0.76107	0.8723281	0.93027	-8.048	0.61397	D	.	.	0.527	0.65785	A	.	.	2.978778	0.39725	21.0	0.98573903527112194	0.43141	0.86188	0.45421	D	AEFBI	0.247155	0.36778	N	0.501910021310106	0.67202	5.050419	0.341232598334537	0.57981	3.966212	1.55228032082513E-4	0.05650	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.79	3.9	0.44240	1.370000	0.33843	1.537000	0.27200	0.530000	0.24713	0.910000	0.31679	0.998000	0.33993	0.693000	0.33928	0.0:0.799:0.0:0.201	7.413	0.26202	817	0.41665	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	0.005051	0.006793	0.000000	0.000000	0.000000	0.003067	0.000000	0.07143	1752.44	38	chr12	10806817	.	C	A	1752.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.461;DP=382;ExcessHet=0;FS=2.664;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.25;ReadPosRankSum=0.157;SOR=0.615	GT:AD:DP:GQ:PL	0/1:93,78:171:99:1763,0,2215	6	0	1	0
chr12	11353720	11353720	-	TGTTGCCTCCTTGTTGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGGTGGGGGACCTTGGGGCTGGTTACCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGATCGGGGACTTTGGGACTTGTCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGTGGGGGACCCTGAGGTT	exonic	PRB1	.	nonframeshift insertion	PRB1:NM_001367912:exon5:c.1368_1369insAACCTCAGGGTCCCCCACCTCCAGGAAAGCCACAAGGACCACCCCCACAAGGAGACAAGTCCCAAAGTCCCCGATCTCCTCCAGGAAAGCCACAAGGACCACCCCCACAAGGAGGTAACCAGCCCCAAGGTCCCCCACCTCCTCCAGGAAAGCCACAAGGACCACCCCAACAAGGAGGCAACA:p.D457delinsNLRVPHLQESHKDHPHKETSPKVPDLLQESHKDHPHKEVTSPKVPHLLQESHKDHPNKEATD	.	540	935	7	29	11	76	0.0335917	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0085	0.0088	0.0081	0.0089	0.0159	0.0083	0.0083	0.0146	0.0141	0.0033	0.0083	0.0191	0.0159	0.0281	0.0146	0.0072	0.0123	0.0121	0.0005	0.0008	0.0005	0.0005	0.0004	0.0003	0.0002	0.0001	8.372e-05	0	0	0	0.0033	0	0.0067	0	0.0004	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	13735.2	137	chr12	11353720	.	C	CTGTTGCCTCCTTGTTGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGGTGGGGGACCTTGGGGCTGGTTACCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGATCGGGGACTTTGGGACTTGTCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGTGGGGGACCCTGAGGTT	13735.2	.	AC=4;AF=1;AN=4;BaseQRankSum=2.45;DP=1307;ExcessHet=0;FS=1.765;MLEAC=6;MLEAF=1;MQ=47.33;MQRankSum=0.446;QD=28.79;ReadPosRankSum=-1.561;SOR=0.757	GT:AD:DP:GQ:PL	1/1:10,259:269:99:7876,685,0	0	2	0	5
chr12	12330907	12330907	T	C	exonic	MANSC1	.	nonsynonymous SNV	MANSC1:NM_018050:exon4:c.A416G:p.D139G,MANSC1:NM_001363613:exon5:c.A314G:p.D105G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.0146792314068	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.0039	0.0004	0.0003	0.0004	0.0003	0.0003	0.0004	0.0004	0.0003	0	3.975e-05	5.116e-05	0	0.0002	0.0004	0.0003	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.308	0.15251	T	0.123	0.41573	T	0.002	0.09854	B	0.001	0.04355	B	0.663613	0.10405	N	0.800555	1	0.08975	N	1.245	0.31408	L	2.25	0.22881	T	-0.47	0.15178	N	0.031	0.01911	-0.9937	0.31643	T	0.030	0.12935	T	10	0.035876542	0.01857	T	0.014679	0.34954	T	0.016	0.02506	0.15	0.05339	0.0138822411134	0.00435	0.33148484278697865	0.33061	0.118754727936	0.13371	0.244366616011	0.03197	T	0.004238	0.10910	T	-0.346822	0.04929	T	-0.735962	0.04062	T	0.0301569309085608	0.02013	T	.	.	.	0.04236311	0.06411	0.026856218	0.00800	0.04236311	0.06410	0.026856218	0.00800	-3.929	0.22738	T	.	.	0.073	0.10545	B	.;.;.	.;.;.	0.071517	0.04796	1.408	0.89113004901921966	0.18522	0.01952	0.05932	N	AEFBI	0.048170	0.08193	N	-1.08359303296155	0.06945	0.3211853	-1.10572455078057	0.07590	0.3697953	0.779261376700607	0.23811	0.706548	0.73137	0	0.588066	0.40923	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.3	0.267	0.14876	-0.186000	0.09666	-1.883000	0.04557	0.595000	0.32841	0.000000	0.06391	0.000000	0.08366	0.220000	0.22462	0.0:0.2766:0.2406:0.4828	2.929	0.05440	612	0.66786	.;.;.	.	.	.	.	.	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	48.49	59	chr12	12330907	.	T	C	48.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-3.738;DP=410;ExcessHet=0;FS=140.529;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=0.4;ReadPosRankSum=0.686;SOR=8.065	GT:AD:DP:GQ:PL	0/1:90,31:121:59:59,0,1704	6	0	1	0
chr12	18488571	18488571	T	-	exonic	PIK3C2G	.	frameshift deletion	PIK3C2G:NM_004570:exon18:c.2504delT:p.I835Tfs*23,PIK3C2G:NM_001288772:exon19:c.2627delT:p.I876Tfs*23,PIK3C2G:NM_001288774:exon19:c.1961delT:p.I654Tfs*23	.	421	1096	4	1	0	6	0.00272975	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0	9.81e-05	0	0	0.0001	0.0012	0.0017	0.0002264	35	154602	rs765216023	0.0002	0.0002	0.0001	0.0002	0.0014	0.0001	0.0001	0.0012	0.0011	3.157e-05	7.354e-05	3.974e-05	0	0	0.0014	8.231e-05	0.0002	0.0014	0.0001	0.0001	1.285e-05	0.0003	0.0010	9.146e-05	7.702e-05	0.0004	0.0003	2.406e-05	0	0.0007	0	0	0	0	7.356e-05	0	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001007	0.005051	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	1254.45	26	chr12	18488570	.	AT	A	1254.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.396;DP=227;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=17.18;ReadPosRankSum=1.15;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:40,33:73:99:0|1:18488570_AT_A:1265,0,1535:18488570	6	0	1	0
chr12	18488573	18488573	A	C	exonic	PIK3C2G	.	nonsynonymous SNV	PIK3C2G:NM_004570:exon18:c.A2506C:p.K836Q,PIK3C2G:NM_001288772:exon19:c.A2629C:p.K877Q,PIK3C2G:NM_001288774:exon19:c.A1963C:p.K655Q	.	422	1095	4	1	0	6	0.00273224	.	.	.	2352860	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.075	0.0220300671842	.	.	0.0003	0	9.917e-05	0	0	0.0002	0.0012	0.0017	0.0002264	35	154602	rs746849167	0.0002	0.0002	0.0001	0.0002	0.0014	0.0001	0.0001	0.0012	0.0011	3.158e-05	7.356e-05	3.972e-05	0	0	0.0014	8.32e-05	0.0002	0.0014	0.0001	0.0001	1.285e-05	0.0003	0.0010	9.145e-05	7.701e-05	0.0004	0.0003	2.405e-05	0	0.0007	0	0	0	0	7.354e-05	0	0.0010	0.764	0.03441	T	0.278	0.22223	T	0.376	0.34240	B	0.234	0.38393	B	0.046012	0.23480	N	0.466822	0.990099	0.24215	N	1.185	0.30054	L	-1.5	0.81318	D	0.06	0.08187	N	0.192	0.21056	-0.8658	0.50842	T	0.278	0.65027	T	10	0.019263238	0.00428	T	0.02203	0.44874	T	0.075	0.21907	0.432	0.48171	0.68311903528	0.68041	0.17578251768827408	0.17497	0.0137740948034	0.01315	0.352341711521	0.18267	T	0.025458	0.19032	T	-0.449927	0.01130	T	-0.43808	0.29024	T	0.0348703813816043	0.02787	T	0.675932	0.28448	T	0.06490843	0.13818	0.04755187	0.06873	0.06490843	0.13817	0.04755187	0.06872	-6.51	0.50363	T	.	.	0.092	0.13503	B	.;.;.	.;.;.	1.896733	0.24088	16.27	0.77037025036373497	0.11711	0.29491	0.23835	N	AEFI	0.198917	0.32574	N	-0.502005495316578	0.22015	1.172571	-0.42611937022988	0.24234	1.325936	3.79579547950385E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.0	2.61	0.30255	0.689000	0.25118	2.119000	0.30708	0.756000	0.94297	0.159000	0.23783	1.000000	0.68203	0.998000	0.85391	0.6937:0.1488:0.1574:0.0	5.345	0.15311	853	0.34956	PI3K-C2-gamma, catalytic domain;PI3K-C2-gamma, catalytic domain;PI3K-C2-gamma, 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	0	0	.	.	.	.	.	.	.	.	0.07143	1254.49	26	chr12	18488573	.	A	C	1254.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.307;DP=222;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=17.18;ReadPosRankSum=1.02;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:40,33:73:99:0|1:18488570_AT_A:1265,0,1535:18488570	6	0	1	0
chr12	21293968	21293968	A	G	exonic	SLCO1A2	.	nonsynonymous SNV	SLCO1A2:NM_021094:exon10:c.T1414C:p.S472P,SLCO1A2:NM_134431:exon12:c.T1414C:p.S472P	.	425	1094	1	2	0	5	0.00227998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.224	.	.	0.00259585	0.0015	0	8.685e-05	0	0	0	0	0.0110	0.0013001	201	154602	rs377576084	0.0007	0.0007	0.0004	0.0010	0.0117	0.0007	0.0007	0.0111	0.0109	0	0	0	0	0	0.0016	7.204e-06	0.0008	0.0117	0.0004	0.0004	0.0002	0.0006	0.0122	0.0003	0.0003	0.0097	0.0088	0	0	0	0	0	0	0	1.47e-05	0	0.0122	0.002	0.72154	D	0.006	0.70582	D	0.996	0.68779	D	0.981	0.75168	D	0.000046	0.53742	D	0.168693	0.999999	0.08975	N	3	0.85872	M	3.6	0.04494	T	-4.72	0.79998	D	0.623	0.64478	-0.9351	0.43379	T	0.079	0.31496	T	10	0.006500095	0.00147	T	.	.	.	0.224	0.52174	0.523	0.62668	0.484837542351	0.48117	0.8109425218228895	0.81049	0.291971285333	0.31605	0.43934032321	0.30486	T	0.344695	0.71317	T	-0.394795	0.02504	T	-0.330477	0.41417	T	0.16991444158309	0.18574	T	0.836416	0.52386	T	0.95537347	0.96811	0.91972536	0.96379	0.95537347	0.96812	0.91972536	0.96379	-10.8	0.78549	D	.	.	0.598	0.68776	P	.;.	.;.	4.119375	0.61562	24.4	0.99585459205442473	0.73277	0.88965	0.49156	D	AEFI	0.867278	0.78699	D	0.59257673740226	0.72711	5.848797	0.41047026849293	0.62217	4.433404	0.00103591261247939	0.08148	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	4.93	4.93	0.64394	6.250000	0.72387	6.833000	0.56697	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.398000	0.26737	1.0:0.0:0.0:0.0	14.858	0.69986	911	0.21964	Kazal domain|Major facilitator superfamily domain|Kazal domain;Kazal domain|Kazal 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	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	1225.44	33	chr12	21293968	.	A	G	1225.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.161;DP=299;ExcessHet=0;FS=4.46;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.04;ReadPosRankSum=1.97;SOR=0.397	GT:AD:DP:GQ:PL	0/1:64,58:122:99:1236,0,1508	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	0/1:20,12:32:29:.:.:29,0,278:.	1	0	5	1
chr12	40408326	40408326	C	T	exonic	MUC19	.	unknown	UNKNOWN	.	430	1059	31	2	0	35	0.0162564	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00539137	0.0135	0.0053	0.0109	0	0	0.0030	0.0169	0.0177	0.0020375	315	154602	rs370137485	0.0062	0.0049	0.0057	0.0067	0.0196	0.0061	0.0060	0.0187	0.0184	0.0009	0.0024	0.0034	7.934e-05	0.0020	0.0078	0.0056	0.0058	0.0196	0.0043	0.0044	0.0046	0.0041	0.0166	0.0041	0.0040	0.0137	0.0126	0.0014	0.0658	0.0027	0.0035	0	0.0008	0.0136	0.0057	0.0038	0.0166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	1128.46	33	chr12	40408326	.	C	T	1128.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.179;DP=270;ExcessHet=0;FS=0.784;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.88;ReadPosRankSum=0.845;SOR=0.568	GT:AD:DP:GQ:PL	0/1:47,48:95:99:1139,0,1055	6	0	1	0
chr12	40485204	40485204	T	A	exonic	MUC19	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs2933360	3.989e-06	2.78e-05	7.424e-06	0	4.362e-06	1.06e-06	3e-07	1.16e-06	3.2e-07	0	0	0	0	0	0	4.362e-06	0	0	5.98e-05	0.0007	3.901e-05	8.154e-05	0.0006	2.545e-05	1.708e-05	0.0001	4.478e-05	3.44e-05	0	0.0001	0	0.0006	0	0	4.553e-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	.	.	.	.	.	.	.	.	0.125	310.16	503	chr12	40485204	.	T	A	310.16	.	AC=1;AF=0.125;AN=8;BaseQRankSum=3.91;DP=5986;ExcessHet=0;FS=13.528;MLEAC=1;MLEAF=0.125;MQ=58.15;MQRankSum=-17.41;QD=0.36;ReadPosRankSum=-12.13;SOR=1.136	GT:AD:DP:GQ:PL	0/1:779,91:1027:99:318,0,37866	3	0	1	3
chr12	40485210	40485210	-	CTGTCGGCTGAAGTGACAGGGACAACTGGG	exonic	MUC19	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.436e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	803.05	503	chr12	40485210	.	A	ACTGTCGGCTGAAGTGACAGGGACAACTGGG	803.05	.	AC=1;AF=0.1;AN=10;BaseQRankSum=7.83;DP=4450;ExcessHet=0;FS=14.215;MLEAC=1;MLEAF=0.1;MQ=58.18;MQRankSum=-18.52;QD=0.92;ReadPosRankSum=-14.98;SOR=1.202	GT:AD:DP:GQ:PL	0/1:779,91:999:99:812,0,36642	4	0	1	2
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|1:1355,192:1547:99:0|1:40486559_GCT_G:3985,0,56095:40486559	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|1:1355,192:1547:99:0|1:40486559_GCT_G:3985,0,56095:40486559	2	0	2	3
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	0/1:1002,32:1037:99:.:.:5709,0,41416:.	2	0	4	1
chr12	40487443	40487443	-	CCTGGAGTGTCAGCTGGGGTGACAGGGACAATTGGATCACCAGCTGGAGTGACAGGG	exonic	MUC19	.	unknown	UNKNOWN	.	536	681	142	0	163	305	0.0944149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.209e-06	8.913e-06	2.247e-06	0	0.0010	0	0	.	.	0	0.0010	0	0	0	0	0	0	0	0.0009	0.0080	0.0007	0.0011	0.0013	0.0007	0.0007	0.0007	0.0007	0.0006	0	0.0013	0	0.0009	0.0016	0	0.0010	0.0013	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	12379.8	639	chr12	40487443	.	A	ACCTGGAGTGTCAGCTGGGGTGACAGGGACAATTGGATCACCAGCTGGAGTGACAGGG	12379.8	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-4.59;DP=6110;ExcessHet=4.7409;FS=5.959;MLEAC=4;MLEAF=0.333;MQ=56.39;MQRankSum=-20.6;QD=3.45;ReadPosRankSum=-1.927;SOR=1.634	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:994,32:1032:99:.:.:5843,0,40476:.	3	0	3	1
chr12	40489087	40489087	C	G	exonic	MUC19	.	unknown	UNKNOWN	.	611	871	12	28	0	68	0.0375691	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1197637289	0	1.536e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0003	0.0074	0.0002	0.0003	0.0004	0.0002	0.0002	0.0002	0.0001	0.0002	0	0.0004	0.0004	0	0.0004	0	0.0003	0	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	.	.	.	.	.	.	.	.	0.1429	384.21	232	chr12	40489087	.	C	G	384.21	.	AC=2;AF=0.143;AN=14;DP=2795;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=32.3;QD=30.12;SOR=4.615	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,9:9:27:1|1:40489054_G_T:405,27,0:40489054	6	1	0	0
chr12	40489098	40489098	T	C	exonic	MUC19	.	unknown	UNKNOWN	.	624	863	11	24	0	59	0.0330532	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs186762951	0	9.509e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0021	0.0002	0.0002	0.0005	0.0001	0.0001	0.0002	0.0002	0.0002	0	0.0005	0	0	0.0003	0	7.71e-05	0.0006	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	249.25	232	chr12	40489098	.	T	C	249.25	.	AC=2;AF=0.143;AN=14;DP=2791;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=35.33;QD=28.81;SOR=3.912	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,6:6:18:1|1:40489054_G_T:270,18,0:40489054	6	1	0	0
chr12	40489579	40489788	TGGACTATCAACTGGGGTGACAGGGATAGCTGGACACTCAGCTGCGGTGACAGGGATAACTAGACCATCAGCTGGAGTGACAGGGACAACCACAGTATCAGCTGGAGTAACAGGGACAATTGGACTATCAGCTGAAGCAACAGGGATAACTCTACCATCAGCTGGGGTGACAGAGACAACTGGACTATCTGCTGGAGTGACAGAAACAAT	-	exonic	MUC19	.	unknown	UNKNOWN	.	559	962	1	0	0	1	0.000519481	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.948e-06	4.802e-06	4.602e-06	5.349e-06	5.409e-06	1.16e-06	7.8e-07	1.27e-06	8.5e-07	0	0	0	0	0	0	5.409e-06	0	0	0	3.352e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1506.4	250	chr12	40489578	.	CTGGACTATCAACTGGGGTGACAGGGATAGCTGGACACTCAGCTGCGGTGACAGGGATAACTAGACCATCAGCTGGAGTGACAGGGACAACCACAGTATCAGCTGGAGTAACAGGGACAATTGGACTATCAGCTGAAGCAACAGGGATAACTCTACCATCAGCTGGGGTGACAGAGACAACTGGACTATCTGCTGGAGTGACAGAAACAAT	C	1506.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.201;DP=3022;ExcessHet=0;FS=4.628;MLEAC=1;MLEAF=0.071;MQ=44.04;MQRankSum=-7.863;QD=11.16;ReadPosRankSum=-9.18;SOR=1.175	GT:AD:DP:GQ:PL	0/1:42,93:135:99:1517,0,1249	6	0	1	0
chr12	40489602	40489602	G	0	exonic	MUC19	.	.	.	.	586	533	254	148	1	551	0.340347	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	68860.2	255	chr12	40489602	.	G	*	68860.2	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.6;DP=3116;ExcessHet=0.0921;FS=0;MLEAC=1;MLEAF=0.071;MQ=59.73;MQRankSum=4.9;QD=30.35;ReadPosRankSum=1.43;SOR=0.671	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:42,93:135:99:.:.:1517,0,1249:.	6	0	1	0
chr12	40489723	40489723	G	0	exonic	MUC19	.	.	.	.	636	835	24	18	9	69	0.0346821	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	10683.6	235	chr12	40489723	.	G	*	10683.6	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-4.154;DP=3038;ExcessHet=0.3476;FS=1.098;MLEAC=1;MLEAF=0.071;MQ=59.94;MQRankSum=1.86;QD=11.57;ReadPosRankSum=-0.563;SOR=0.785	GT:AD:DP:GQ:PL	0/1:42,93:135:99:1517,0,1249	6	0	1	0
chr12	40489783	40489783	A	0	exonic	MUC19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	84246.9	228	chr12	40489783	.	A	*	84246.9	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.11;DP=3177;ExcessHet=0.3476;FS=0.788;MLEAC=1;MLEAF=0.071;MQ=59.87;MQRankSum=-0.125;QD=27.41;ReadPosRankSum=1.37;SOR=0.586	GT:AD:DP:GQ:PL	0/1:42,93:135:99:1517,0,1249	6	0	1	0
chr12	40509053	40509053	T	A	exonic	MUC19	.	unknown	UNKNOWN	.	561	887	71	3	0	77	0.0415991	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796340531	3.486e-05	0.0002	3.413e-05	3.563e-05	.	5.78e-06	2.16e-06	.	.	0	0	0	0	0.0004	0	0	0	0	5.923e-05	0.0006	5.149e-05	6.731e-05	0.0002	3.081e-05	2.213e-05	6.279e-05	4.297e-05	0.0001	0	0.0002	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	.	.	.	.	.	.	.	.	0.3333	287.97	115	chr12	40509053	.	T	A	287.97	.	AC=2;AF=0.333;AN=6;BaseQRankSum=0.24;DP=862;ExcessHet=0.3476;FS=1.595;MLEAC=3;MLEAF=0.5;MQ=59.37;MQRankSum=-11.1;QD=0.92;ReadPosRankSum=3.79;SOR=0.767	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:161,16:177:99:0|1:40509053_T_A:167,0,6651:40509053	1	0	2	4
chr12	40509056	40509056	G	A	exonic	MUC19	.	unknown	UNKNOWN	.	559	887	73	3	0	79	0.0426336	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1305621476	1.742e-05	0.0002	0	3.572e-05	.	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.0005	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	.	.	.	.	.	.	.	.	0.3333	284.97	110	chr12	40509056	.	G	A	284.97	.	AC=2;AF=0.333;AN=6;BaseQRankSum=0.757;DP=859;ExcessHet=0.3476;FS=1.594;MLEAC=3;MLEAF=0.5;MQ=59.36;MQRankSum=-11.14;QD=0.9;ReadPosRankSum=3.92;SOR=0.772	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:161,16:177:99:0|1:40509053_T_A:167,0,6672:40509053	1	0	2	4
chr12	40509061	40509061	G	C	exonic	MUC19	.	unknown	UNKNOWN	.	557	891	71	3	0	77	0.0414201	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1348486958	3.908e-05	0.0002	3.806e-05	4.015e-05	2.421e-05	6.48e-06	2.42e-06	.	.	0	0	0	0	0.0002	0	2.421e-05	0	0	9.211e-05	0.0006	9.011e-05	9.421e-05	0.0003	5.535e-05	4.37e-05	0.0001	0.0001	0.0003	0	0.0002	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	.	.	.	.	.	.	.	.	0.3333	247.97	115	chr12	40509061	.	G	C	247.97	.	AC=2;AF=0.333;AN=6;BaseQRankSum=0.556;DP=869;ExcessHet=0.3476;FS=2.586;MLEAC=3;MLEAF=0.5;MQ=59.43;MQRankSum=-11.27;QD=0.78;ReadPosRankSum=3.84;SOR=0.891	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:163,15:178:99:0|1:40509053_T_A:139,0,6799:40509053	1	0	2	4
chr12	40509062	40509062	A	C	exonic	MUC19	.	unknown	UNKNOWN	.	557	890	72	3	0	78	0.0419806	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1239171133	3.865e-05	0.0002	3.759e-05	3.976e-05	2.401e-05	6.41e-06	2.4e-06	.	.	0	0	0	0	0.0002	0	2.401e-05	0	0	0	0.0004	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	.	.	.	.	.	.	.	.	0.3333	250.97	115	chr12	40509062	.	A	C	250.97	.	AC=2;AF=0.333;AN=6;BaseQRankSum=1.25;DP=869;ExcessHet=0.3476;FS=2.595;MLEAC=3;MLEAF=0.5;MQ=59.43;MQRankSum=-11.27;QD=0.79;ReadPosRankSum=3.83;SOR=0.885	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:162,15:177:99:0|1:40509053_T_A:142,0,6757:40509053	1	0	2	4
chr12	40509076	40509076	G	A	exonic	MUC19	.	unknown	UNKNOWN	.	553	907	60	2	0	64	0.0340788	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796925819	3.366e-05	0.0002	6.615e-05	0	5.131e-05	0	0	.	.	0	0	0	0	0	0	5.131e-05	0	0	6.575e-06	0.0004	0	1.345e-05	1.472e-05	0	0	.	.	0	0	0	0	0	0	0	1.472e-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	.	.	.	.	.	.	.	.	0.3333	103.97	118	chr12	40509076	.	G	A	103.97	.	AC=2;AF=0.333;AN=6;BaseQRankSum=1.09;DP=885;ExcessHet=0.3476;FS=1.649;MLEAC=3;MLEAF=0.5;MQ=59.49;MQRankSum=-11.5;QD=0.31;ReadPosRankSum=3.12;SOR=0.918	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:172,15:187:72:0|1:40509076_G_A:72,0,6970:40509076	1	0	2	4
chr12	40509081	40509081	T	C	exonic	MUC19	.	unknown	UNKNOWN	.	552	908	60	2	0	64	0.0340426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796068417	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	9.204e-05	0.0005	0.0001	8.068e-05	0.0003	5.531e-05	4.367e-05	0.0001	0.0001	0.0003	0	0.0002	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	.	.	.	.	.	.	.	.	0.3333	106.97	119	chr12	40509081	.	T	C	106.97	.	AC=2;AF=0.333;AN=6;BaseQRankSum=1.62;DP=892;ExcessHet=0.3476;FS=1.647;MLEAC=3;MLEAF=0.5;MQ=59.49;MQRankSum=-11.46;QD=0.32;ReadPosRankSum=2.48;SOR=0.91	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:172,15:187:72:0|1:40509076_G_A:72,0,6972:40509076	1	0	2	4
chr12	51303095	51303095	G	C	exonic	BIN2	.	nonsynonymous SNV	BIN2:NM_001290007:exon3:c.C131G:p.A44G,BIN2:NM_001290008:exon3:c.C209G:p.A70G,BIN2:NM_001364779:exon3:c.C209G:p.A70G,BIN2:NM_001364780:exon3:c.C209G:p.A70G,BIN2:NM_001364781:exon3:c.C209G:p.A70G,BIN2:NM_016293:exon3:c.C209G:p.A70G	.	429	1088	5	0	0	5	0.00229253	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.676	0.0564088350817	0.0021	0.000798722	0.0020	0.0007	0.0009	0	0.0039	0.0028	0.0022	0.0007	0.001934	299	154602	rs147235873	0.0020	0.0020	0.0020	0.0019	0.0021	0.0019	0.0019	0.0020	0.0020	0.0001	0.0008	0.0067	0	0.0030	0.0021	0.0021	0.0022	0.0005	0.0019	0.0019	0.0019	0.0018	0.0028	0.0017	0.0016	0.0024	0.0023	0.0004	0.0044	0.0006	0.0075	0	0.0035	0	0.0028	0.0009	0	0.003	0.68238	D	0.012	0.63918	D	.	.	.	.	.	.	0.000042	0.53742	D	0.070422	0.999124	0.46125	D	.	.	.	0.05	0.61923	T	-2.87	0.60348	D	0.622	0.66016	1.047	0.98054	D	0.926	0.97568	D	10	0.0109981	0.00242	T	0.056409	0.66596	D	0.676	0.88061	.	.	0.817793535606	0.81607	.	.	.	.	0.664282977581	0.62021	T	0.150562	0.49010	T	-0.238371	0.15557	T	-0.116336	0.62101	T	0.0271328788256807	0.01563	T	0.824917	0.48720	T	.	.	.	.	.	.	.	.	-11.881	0.84266	D	.	.	0.354	0.56851	A	.;.	.;.	4.436741	0.68853	25.3	0.99779901784409464	0.86693	0.98526	0.83723	D	AEFBI	0.932385	0.92266	D	0.791322623078204	0.85560	8.612368	0.755129032023206	0.86539	8.921961	0.99999973703206	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.75	4.75	0.59954	8.599000	0.90640	11.550000	0.93175	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	15.522	0.75606	369	0.84396	BAR domain|BAR domain|BAR 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	0.001512	0.005051	0.001359	0.000000	0.000000	0.000000	0.003067	0.000000	0.07143	1605.53	34	chr12	51303095	.	G	C	1605.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.668;DP=341;ExcessHet=0;FS=0.593;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.03;ReadPosRankSum=1.2;SOR=0.612	GT:AD:DP:GQ:PL	0/1:89,71:160:99:1616,0,2197	6	0	1	0
chr12	52317765	52317765	G	T	exonic	KRT83	.	stopgain	KRT83:NM_002282:exon4:c.C666A:p.C222X	.	0	524	704	288	6	1286	0.549828	.	.	.	325664	Monilethrix|KRT83-related_disorder|not_provided	Human_Phenotype_Ontology:HP:0032470,MONDO:MONDO:0008009,MedGen:C0546966,OMIM:PS158000,Orphanet:573|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	0.000998403	0.0052	0.0013	0.0010	0	0.0039	0.0084	0.0044	0.0008	0.0053104	821	154602	rs2857667	0.0089	0.0089	0.0091	0.0087	0.0107	0.0088	0.0087	0.0105	0.0104	0.0016	0.0016	0.0036	0	0.0051	0.0014	0.0107	0.0092	0.0010	0.0067	0.0067	0.0072	0.0061	0.0115	0.0063	0.0062	0.0108	0.0106	0.0015	0.0362	0.0038	0.0038	0	0.0048	0	0.0115	0.0038	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	0.000269	0.46590	U	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.129	0.12341	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17806	0.71864	D	0.495319	0.94515	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	7.015050	0.96036	35	0.98622137857065073	0.43785	0.11631	0.16760	N	AEFDGBI	0.108877	0.21645	N	-0.071148009845358	0.38662	2.267829	-0.363780087207315	0.26086	1.43863	0.96087995647468	0.28517	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.64	-2.6	0.05830	-0.996000	0.03819	.	.	-1.331000	0.01216	0.000000	0.06391	0.000000	0.08366	0.769000	0.36481	0.6883:0.0:0.3117:0.0	11.530	0.49856	721	0.55360	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	Likely benign	1	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	.	.	.	.	.	.	.	.	0.08333	4463.95	59	chr12	52317765	.	G	T	4463.95	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.149;DP=301;ExcessHet=0;FS=0.681;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=23.37;ReadPosRankSum=0.941;SOR=0.727	GT:AD:DP:GQ:PL	0/1:0,45:101:99:3008,1612,1477	5	0	1	1
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	0/1:70,25:95:76:76,0,1769	3	0	3	1
chr12	56326648	56326648	A	C	exonic	PAN2	.	nonsynonymous SNV	PAN2:NM_001127460:exon7:c.T1231G:p.W411G,PAN2:NM_001166279:exon7:c.T1231G:p.W411G,PAN2:NM_014871:exon7:c.T1231G:p.W411G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.612	0.133780582699	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.002	0.79402	D	0.999	0.90584	D	0.94	0.80445	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.92	0.84325	M	3.4	0.05642	T	-10.61	0.99112	D	0.885	0.88466	-1.0241	0.22377	T	0.079	0.31254	T	10	0.90898645	0.90264	D	0.133781	0.81618	D	0.612	0.84826	0.752	0.88237	0.851619416047	0.85019	0.9247466260483579	0.92451	1.6732094712	0.89882	0.832624435425	0.86966	D	0.551398	0.84817	D	0.251374	0.78731	D	0.123305	0.78454	D	0.999693870544434	0.98532	D	0.909809	0.68064	D	0.8348947	0.86245	0.7615565	0.85912	0.8348947	0.86247	0.7615565	0.85913	-13.566	0.91560	D	.	.	0.965	0.88748	P	.;.;.;.;.	.;.;.;.;.	4.881305	0.80062	27.2	0.97905528842437506	0.36773	0.98864	0.87871	D	AEFDBI	0.908837	0.86467	D	0.88310594423882	0.90907	10.62287	0.819976252669874	0.91147	10.742	0.999999972041743	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	5.08	5.08	0.68373	8.579000	0.90568	11.270000	0.91373	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	1.0:0.0:0.0:0.0	14.265	0.65662	293	0.88320	.;.;.;.;.	.	.	.	.	.	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	2202.46	35	chr12	56326648	.	A	C	2202.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.153;DP=357;ExcessHet=0;FS=2.68;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.03;ReadPosRankSum=-0.73;SOR=0.829	GT:AD:DP:GQ:PL	0/1:84,85:169:99:2213,0,2279	6	0	1	0
chr12	57038958	57038958	C	G	exonic	MYO1A	.	nonsynonymous SNV	MYO1A:NM_005379:exon16:c.G1384C:p.V462L,MYO1A:NM_001256041:exon17:c.G1384C:p.V462L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	0.0381980376133	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	0.25664	T	0.211	0.26631	T	0.316	0.32901	B	0.131	0.32951	B	0.000143	0.49130	D	0.176421	0.640665	0.32873	D	-0.345	0.03330	N	-2.24	0.87194	D	-0.8	0.22078	N	0.309	0.34874	-0.4561	0.70198	T	0.290	0.66201	T	10	0.17061564	0.31735	T	0.038198	0.58078	D	0.205	0.49236	0.329	0.31357	0.629359936291	0.62633	0.17966659664554677	0.17885	0.102991684009	0.11653	0.406162768602	0.25926	T	0.233045	0.59975	T	-0.067909	0.41662	T	-0.335323	0.40873	T	0.824005007743835	0.48072	D	0.949505	0.80559	D	0.07749079	0.17590	0.08372528	0.19209	0.07749079	0.17590	0.08372528	0.19209	-3.099	0.11285	T	.	.	0.129	0.27553	B	.;.	.;.	2.992561	0.39959	21.1	0.99084223923303616	0.52051	0.44893	0.27418	N	AEFBCI	0.528254	0.54986	D	-0.372177240034277	0.26464	1.444557	-0.237820604102338	0.30192	1.697903	0.999960018707071	0.48965	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.55	3.65	0.40985	1.480000	0.35072	0.787000	0.21533	0.599000	0.40250	0.055000	0.21596	0.246000	0.23885	0.999000	0.91618	0.0:0.8029:0.0:0.1971	6.240	0.19995	174	0.93268	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|Class I myosin, motor 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	1520.44	35	chr12	57038958	.	C	G	1520.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.53;DP=358;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.1;ReadPosRankSum=-1.186;SOR=0.672	GT:AD:DP:GQ:PL	0/1:104,63:167:99:1531,0,2499	6	0	1	0
chr12	62544968	62544968	G	T	exonic	MON2	.	nonsynonymous SNV	MON2:NM_001278469:exon21:c.G2537T:p.G846V,MON2:NM_001278470:exon21:c.G2537T:p.G846V,MON2:NM_001278471:exon21:c.G2468T:p.G823V,MON2:NM_015026:exon21:c.G2537T:p.G846V,MON2:NM_001278472:exon22:c.G2321T:p.G774V	.	440	1072	10	0	0	10	0.00464253	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.385	0.0274834662682	0.0022	0.00219649	0.0027	0.0007	0.0019	0	0	0.0036	0.0044	0.0037	0.0028848	446	154602	rs140799300	0.0035	0.0035	0.0035	0.0036	0.0073	0.0034	0.0034	0.0056	0.0050	0.0006	0.0024	0.0068	7.596e-05	0.0005	0.0073	0.0038	0.0040	0.0042	0.0028	0.0028	0.0028	0.0028	0.0051	0.0026	0.0025	0.0042	0.0039	0.0007	0	0.0051	0.0081	0	0.0007	0	0.0038	0.0052	0.0025	0.003	0.68238	D	0.006	0.70582	D	.	.	.	.	.	.	0.000004	0.62929	D	0.061993	1	0.81001	D	.	.	.	-0.05	0.63403	T	-1.4	0.38924	N	0.925	0.94196	-0.9938	0.31617	T	0.099	0.36932	T	9	0.009376019	0.00212	T	0.027483	0.50284	D	0.385	0.70194	.	.	0.792206061693	0.79027	0.7001671913752121	0.69957	.	.	0.805480480194	0.82798	D	0.034207	0.23230	T	-0.0140704	0.49695	T	0.207416	0.83530	D	0.06198255906322	0.07478	T	0.959204	0.84623	D	0.33396807	0.55793	0.3643407	0.61804	0.33396807	0.55793	0.3643407	0.61804	-4.407	0.30586	T	.	.	0.603	0.76282	P	.;.;.;.;.;.	.;.;.;.;.;.	4.382498	0.67565	25.1	0.98948110385522459	0.49074	0.99190	0.92559	D	AEFBI	0.905718	0.85759	D	-0.00894746412225098	0.41451	2.479474	0.217460237975234	0.50816	3.269768	0.99999952897414	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.77	4.88	0.63131	10.003000	0.99689	9.897000	0.82319	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0695:0.0:0.9305:0.0	14.662	0.68486	727	0.54702	.;.;.;.;.;.	.	.	.	.	.	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	0.005435	0.002924	0.000000	0.000000	0.015244	0.018939	0.07143	590.63	36	chr12	62544968	.	G	T	590.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.8;DP=210;ExcessHet=0;FS=4.246;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.84;ReadPosRankSum=1.33;SOR=0.725	GT:AD:DP:GQ:PL	0/1:23,23:46:99:601,0,492	6	0	1	0
chr12	67657791	67657791	A	G	exonic	DYRK2	.	nonsynonymous SNV	DYRK2:NM_003583:exon2:c.A665G:p.N222S,DYRK2:NM_006482:exon3:c.A884G:p.N295S	.	427	1086	8	1	0	10	0.00458295	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.0118965556233	0.0025	0.00139776	0.0014	0.0007	0.0016	0	0	0.0020	0	0.0005	0.001533	237	154602	rs56293072	0.0026	0.0026	0.0027	0.0025	0.0031	0.0025	0.0025	0.0030	0.0030	0.0004	0.0019	0.0011	0	0.0003	0.0023	0.0031	0.0023	0.0007	0.0019	0.0019	0.0020	0.0018	0.0038	0.0017	0.0016	0.0030	0.0027	0.0006	0	0.0038	0.0014	0	9.414e-05	0	0.0028	0.0019	0.0002	0.054	0.46129	T	0.017	0.60337	D	0.118	0.26577	B	0.064	0.27215	B	0.000000	0.84330	D	0.040345	1	0.81001	D	0.465	0.13073	N	2.09	0.20122	T	-4.59	0.78891	D	0.069	0.15469	-1.0468	0.15303	T	0.024	0.10148	T	9	0.017895967	0.00385	T	0.011897	0.29978	T	0.098	0.28162	.	.	0.578027745229	0.57471	0.19468711837881433	0.19386	0.48101912929	0.47108	0.69347602129	0.66205	T	0.327167	0.69770	T	-0.624444	0.00103	T	-0.667413	0.07776	T	0.0679166506954679	0.08356	T	0.930207	0.74183	D	0.4895544	0.66476	0.38152814	0.63160	0.4895544	0.66477	0.38152814	0.63160	-4.98	0.41111	T	.	.	0.087	0.11220	B	.;.	.;.	3.002100	0.40121	21.1	0.98745171553656086	0.45572	0.86420	0.45696	D	AEFDBCI	0.341398	0.43789	N	-0.119130529074372	0.36561	2.114911	0.0749113818636404	0.43292	2.633938	0.999999639648651	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.34	5.34	0.75982	4.552000	0.60456	8.176000	0.76768	-0.122000	0.13826	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.9167:0.0:0.0833:0.0	10.391	0.43350	541	0.72942	Protein kinase domain|Protein kinase domain|Protein kinase 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	0.001511	0.010101	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	2084.44	34	chr12	67657791	.	A	G	2084.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.81;DP=408;ExcessHet=0;FS=3.172;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.79;ReadPosRankSum=-0.998;SOR=0.949	GT:AD:DP:GQ:PL	0/1:130,83:213:99:2095,0,3246	6	0	1	0
chr12	70329450	70329450	T	C	exonic	CNOT2	.	nonsynonymous SNV	CNOT2:NM_001199303:exon5:c.T266C:p.M89T,CNOT2:NM_014515:exon5:c.T266C:p.M89T,CNOT2:NM_001199302:exon6:c.T266C:p.M89T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.286	0.0131236657606	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0024	0.0002	0.0001	0.0002	0.0001	0.0001	0.0002	0.0001	9.366e-05	0	0	2.54e-05	0	0	0.0002	0.0001	5.893e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.72154	T	0.373	0.58613	T	0.089	0.25085	B	0.015	0.17295	B	0.000002	0.62929	D	0.156649	0.999987	0.54805	D	1.39	0.34934	L	0.75	0.50192	T	-1.37	0.73151	N	0.791	0.78737	-1.0546	0.13145	T	0.070	0.28609	T	10	0.3466993	0.51619	T	0.013124	0.32271	T	0.286	0.60456	0.221	0.14371	0.702063244252	0.69947	0.5511041298698888	0.55036	1.14100540041	0.78923	0.857781887054	0.90783	D	0.084111	0.37206	T	0.247529	0.78369	D	0.117782	0.78087	D	0.656853437423706	0.38758	D	0.789921	0.45805	T	0.21835071	0.44341	0.21838577	0.46539	0.21835071	0.44341	0.21838577	0.46538	-4.093	0.25187	T	.	.	0.581	0.70259	P	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	3.987872	0.58674	24.0	0.9772757362070762	0.35598	0.97687	0.76416	D	AEFBI	0.932963	0.92412	D	-0.161537160210571	0.34744	1.986992	0.0781611403978821	0.43451	2.64668	0.999999326455377	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.645665	0.59343	0	.	.	5.5	5.5	0.81386	7.674000	0.83146	7.864000	0.71599	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.0:1.0	14.188	0.65156	716	0.55970	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	478.14	38	chr12	70329450	.	T	C	478.14	.	AC=1;AF=0.25;AN=4;BaseQRankSum=-2.137;DP=322;ExcessHet=0;FS=174.606;MLEAC=2;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.92;ReadPosRankSum=-0.391;SOR=6.592	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:96,26:122:99:0|1:70329448_G_A:483,0,3705:70329448	1	0	1	5
chr12	70329451	70329451	G	A	exonic	CNOT2	.	nonsynonymous SNV	CNOT2:NM_001199303:exon5:c.G267A:p.M89I,CNOT2:NM_014515:exon5:c.G267A:p.M89I,CNOT2:NM_001199302:exon6:c.G267A:p.M89I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.130	0.0103649765516	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.043e-07	6.894e-07	1.406e-06	0	9.311e-07	0	0	.	.	0	0	0	0	0	0	9.311e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.41364	T	0.74	0.14725	T	0.0	0.02946	B	0.0	0.01387	B	0.000002	0.62929	D	0.156649	0.999898	0.50595	D	1.735	0.44892	L	0.94	0.43672	T	-0.39	0.57599	N	0.48	0.51851	-1.0708	0.09238	T	0.062	0.25708	T	10	0.23940006	0.41079	T	0.010365	0.26807	T	0.130	0.35528	0.277	0.23004	0.369524611565	0.36568	0.44334245260416183	0.44252	1.09812664247	0.77639	0.794959783554	0.81196	T	0.070289	0.33924	T	-0.0695512	0.41400	T	-0.337682	0.40607	T	0.759007751941681	0.43794	D	0.931607	0.77964	D	0.2108132	0.43389	0.21262307	0.45739	0.2108132	0.43389	0.21262307	0.45738	-3.813	0.20999	T	.	.	0.372	0.61506	A	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	3.889866	0.56592	23.8	0.97936597058958741	0.36999	0.97640	0.76089	D	AEFBI	0.924572	0.90281	D	-0.117543626066413	0.36629	2.119811	0.139756337599154	0.46603	2.903537	0.999961322651884	0.48965	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.645665	0.59343	0	.	.	5.5	5.5	0.81386	7.758000	0.84076	11.794000	0.96459	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	17.588	0.87887	716	0.55970	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	470.66	36	chr12	70329451	.	G	A	470.66	.	AC=1;AF=0.167;AN=6;BaseQRankSum=-3.128;DP=322;ExcessHet=0;FS=171.653;MLEAC=2;MLEAF=0.333;MQ=60;MQRankSum=0;QD=3.8;ReadPosRankSum=-0.363;SOR=6.592	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:98,26:124:99:0|1:70329448_G_A:477,0,3749:70329448	2	0	1	4
chr12	94279523	94279523	T	C	exonic	PLXNC1	.	nonsynonymous SNV	PLXNC1:NM_005761:exon22:c.T3649C:p.C1217R	.	394	1125	3	0	0	3	0.00133156	.	.	.	223640	not_provided|Anophthalmia-microphthalmia_syndrome	MedGen:C3661900|MedGen:C5680330,Orphanet:98555	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.245	0.025229350806	0.0007	0.000798722	0.0006	0	0.0002	0	0.0005	0.0010	0	0.0001	0.0005886	91	154602	rs146747324	0.0006	0.0006	0.0006	0.0006	0.0036	0.0006	0.0006	0.0024	0.0020	2.987e-05	0.0003	7.652e-05	2.519e-05	0.0009	0.0036	0.0007	0.0005	0.0001	0.0006	0.0006	0.0007	0.0005	0.0012	0.0005	0.0005	0.0010	0.0009	0	0	0.0006	0	0	0.0003	0.0034	0.0012	0.0005	0	0.004	0.65419	D	0.031	0.63918	D	0.998	0.73220	D	0.949	0.68658	D	0.870404	0.08829	N	0.946787	0.999998	0.81001	D	0.69	0.16971	N	3.28	0.12988	T	-3.23	0.70432	D	0.573	0.62357	-1.1098	0.03087	T	0.037	0.15770	T	10	0.02389419	0.00639	T	0.025229	0.48206	D	0.245	0.55201	.	.	0.530978576197	0.52746	0.5358477929424715	0.53509	2.50374879105	0.97662	0.787829756737	0.80112	T	0.090591	0.38617	T	-0.207145	0.19784	T	-0.076184	0.65181	T	0.0596900496040804	0.07120	T	0.738826	0.35731	T	0.63390535	0.74506	0.5183428	0.72171	0.63390535	0.74507	0.5183428	0.72172	-7.498	0.57596	T	.	.	0.194	0.41495	B	.;.	.;.	4.292164	0.65461	24.8	0.98490423892625989	0.42085	0.87965	0.47692	D	AEFBI	0.415421	0.48429	N	0.15466255010577	0.49033	3.108291	0.27149387835094	0.53881	3.555093	0.415657106028172	0.20249	0.706548	0.73137	0	0.724815	0.89359	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.28	5.28	0.74118	1.712000	0.37560	6.231000	0.55220	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.1515:0.0:0.0:0.8485	9.920	0.40626	969	0.06854	Plexin, cytoplasmic RasGAP domain;Plexin, cytoplasmic RasGAP 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	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	861.83	33	chr12	94279523	.	T	C	861.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.523;DP=267;ExcessHet=0;FS=3.993;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.68;ReadPosRankSum=-0.763;SOR=0.902	GT:AD:DP:GQ:PL	0/1:45,44:89:99:872,0,1105	6	0	1	0
chr12	101753387	101753387	T	C	exonic	GNPTAB	.	nonsynonymous SNV	GNPTAB:NM_024312:exon19:c.A3587G:p.H1196R	Mucolipidosis II alpha/beta, Autosomal recessive;Mucolipidosis III alpha/beta, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	1489811	Mucolipidosis_type_II|Pseudo-Hurler_polydystrophy	MONDO:MONDO:0009650,MedGen:C2673377,OMIM:252500,Orphanet:576|MONDO:MONDO:0018931,MedGen:C0033788,OMIM:252600,Orphanet:423461,Orphanet:577	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.210	0.0241242773709	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.158e-06	6.156e-06	2.723e-06	9.627e-06	0.0005	2.9e-06	2.1e-06	0.0001	7.544e-05	0	2.236e-05	0	2.52e-05	0	0.0005	2.699e-06	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.271	0.15984	T	0.433	0.13595	T	0.003	0.11197	B	0.002	0.06944	B	0.003934	0.34318	N	0.347225	0.856723	0.35316	D	0.805	0.20218	L	-1.49	0.81235	T	-2.57	0.55501	D	0.384	0.42541	-0.7153	0.59693	T	0.277	0.64926	T	10	0.20799753	0.37115	T	0.024124	0.47114	T	0.210	0.50028	0.399	0.42753	0.675068926283	0.67231	0.6513982571323699	0.65075	0.272347824251	0.29747	0.756527245045	0.75412	T	0.289866	0.66264	T	-0.0383294	0.46196	T	-0.292834	0.45476	T	0.496631920337677	0.32506	T	0.846115	0.52582	T	0.16689205	0.37053	0.16420493	0.38051	0.16689205	0.37052	0.16420493	0.38050	-1.061	0.01069	T	0.21357290697155049	0.28680	0.081	0.08129	B	.	.	2.122969	0.27023	17.32	0.95747936040039494	0.27715	0.91397	0.53451	D	AEFBI	0.271439	0.38729	N	-0.252847470206892	0.30990	1.733308	-0.0456896030177927	0.37678	2.209327	0.0169472474569439	0.12893	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.69	4.55	0.55429	3.155000	0.50398	2.860000	0.35197	0.599000	0.40250	1.000000	0.71638	0.999000	0.35428	0.996000	0.76049	0.0:0.0707:0.0:0.9293	11.387	0.49030	470	0.78111	.	.	.	.	.	.	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	1337.46	34	chr12	101753387	.	T	C	1337.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.548;DP=319;ExcessHet=0;FS=0.691;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.33;ReadPosRankSum=1.03;SOR=0.601	GT:AD:DP:GQ:PL	0/1:56,62:118:99:1348,0,1215	6	0	1	0
chr12	103746704	103746704	G	A	exonic	STAB2	.	nonsynonymous SNV	STAB2:NM_017564:exon58:c.G6244A:p.V2082I	.	.	.	.	.	.	.	.	0.9998	0.926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.394	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.45039	D	0.197	0.27855	T	0.409	0.35027	B	0.156	0.34472	B	0.194073	0.16770	N	0.555420	0.999989	0.54805	D	2.56	0.74772	M	-2.24	0.87194	D	-0.89	0.24026	N	0.317	0.35727	0.118	0.84508	D	0.626	0.86858	D	10	0.3218444	0.49542	T	0.074131	0.71964	D	0.394	0.70924	0.375	0.38830	0.753618003907	0.75138	0.26239603109973303	0.26152	0.121059964372	0.13639	0.3819668293	0.22536	T	0.283413	0.65617	T	0.042709	0.57399	T	-0.176428	0.56852	T	0.938403129577637	0.60899	D	0.884312	0.60710	D	0.14118905	0.32544	0.14891663	0.35183	0.14118905	0.32544	0.14891663	0.35182	-8.072	0.61560	D	.	.	0.099	0.16494	B	.	.	5.288226	0.88792	29.7	0.99811860064909097	0.89531	0.99522	0.97031	D	AEFBI	0.944511	0.95169	D	0.327242868043115	0.57550	3.922829	0.425616818172914	0.63165	4.545006	0.999999992392754	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.491513	0.07944	0	0.613276	0.41899	0	.	.	5.43	5.43	0.79006	9.197000	0.94121	9.876000	0.82163	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.727000	0.35000	0.0:0.0:1.0:0.0	19.232	0.93829	885	0.28214	EGF-like 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	1428.45	34	chr12	103746704	.	G	A	1428.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.265;DP=288;ExcessHet=0;FS=4.914;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.35;ReadPosRankSum=-0.206;SOR=1.202	GT:AD:DP:GQ:PL	0/1:49,58:107:99:1439,0,1206	6	0	1	0
chr12	109246234	109246234	G	A	exonic	ACACB	.	nonsynonymous SNV	ACACB:NM_001093:exon39:c.G5357A:p.R1786Q	.	423	1085	14	0	0	14	0.00641026	.	.	.	713318	ACACB-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.855	0.22667478314	0.0048	0.00279553	0.0046	0.0015	0.0016	0.0002	0.0018	0.0061	0.0011	0.0065	0.004586	709	154602	rs144673785	0.0062	0.0062	0.0063	0.0062	0.0071	0.0061	0.0061	0.0070	0.0069	0.0014	0.0012	0.0028	0	0.0014	0.0033	0.0071	0.0051	0.0071	0.0044	0.0044	0.0045	0.0043	0.0073	0.0041	0.0040	0.0061	0.0059	0.0016	0.0482	0.0023	0.0046	0.0004	0.0018	0.0068	0.0066	0.0033	0.0073	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000001	0.62929	D	0.058289	0.999999	0.81001	D	3.58	0.93551	H	-4.65	0.97938	D	-3.74	0.71042	D	0.973	0.98368	0.903	0.95720	D	0.958	0.98646	D	10	0.098863095	0.17904	T	0.226675	0.88055	D	0.855	0.95544	.	.	0.788827947797	0.78687	0.9634623608571236	0.96333	0.94141016562	0.72219	0.482595443726	0.36414	T	0.96615	0.99597	D	0.233261	0.77027	D	0.573963	0.96277	D	0.0615756208961317	0.07414	T	0.996	0.98873	D	0.78223073	0.82791	0.5406479	0.73452	0.78223073	0.82793	0.5406479	0.73453	-11.021	0.79774	D	.	.	0.419	0.67259	A	.;.;.	.;.;.	4.654274	0.74218	26.1	0.99938655837885371	0.99698	0.98739	0.86233	D	AEFBI	0.950762	0.96471	D	0.770890160005408	0.84256	8.237651	0.612763216402882	0.75866	6.386948	0.997955428755747	0.36237	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.24	4.34	0.51267	9.990000	0.99219	11.788000	0.96293	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.086000	0.17578	0.0:0.0:0.8608:0.1392	15.540	0.75769	694	0.58444	Acetyl-CoA carboxylase|Acetyl-coenzyme A carboxyltransferase, N-terminal;Acetyl-CoA carboxylase|Acetyl-coenzyme A carboxyltransferase, N-terminal;Acetyl-CoA carboxylase|Acetyl-coenzyme A carboxyltransferase, N-terminal	.	.	.	.	.	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	0.003021	0.000000	0.001359	0.002924	0.000000	0.008621	0.000000	0.018939	0.07143	1149.53	33	chr12	109246234	.	G	A	1149.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.04;DP=291;ExcessHet=0;FS=1.569;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.74;ReadPosRankSum=-1.226;SOR=0.919	GT:AD:DP:GQ:PL	0/1:69,49:118:99:1160,0,1509	6	0	1	0
chr12	109516838	109516838	C	G	exonic	UBE3B	.	nonsynonymous SNV	UBE3B:NM_130466:exon19:c.C2030G:p.S677C,UBE3B:NM_183415:exon19:c.C2030G:p.S677C	Kaufman oculocerebrofacial syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.206	0.0357073851034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.72154	D	0.023	0.63109	D	0.997	0.70673	D	0.922	0.65739	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.175	0.60977	M	0.93	0.44065	T	-2.39	0.54217	N	0.843	0.83885	-0.5619	0.66331	T	0.271	0.64266	T	10	0.6241582	0.68146	D	0.035707	0.56521	D	0.206	0.49396	0.399	0.42753	0.776800935306	0.77474	0.48502588665287377	0.48422	0.754756156062	0.63957	0.702926635742	0.67567	T	0.510976	0.82710	D	0.109413	0.65291	D	-0.0806124	0.64859	T	0.975470781326294	0.70951	D	0.927007	0.73102	D	0.30571008	0.53412	0.16553605	0.38290	0.30571008	0.53412	0.16553605	0.38289	-6.6	0.51053	T	0.30700863558375696	0.40472	0.133	0.31658	B	.;.;.	.;.;.	4.740934	0.76452	26.5	0.99239521899448668	0.56501	0.98926	0.88723	D	AEFBI	0.878679	0.80410	D	0.787035019812245	0.85286	8.531427	0.778480657736234	0.88259	9.515927	0.999999999999973	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.33	5.33	0.75683	7.345000	0.78576	5.956000	0.51737	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.947000	0.49155	0.0:1.0:0.0:0.0	18.190	0.89737	715	0.56137	.;.;.	.	.	.	.	.	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	1669.63	34	chr12	109516838	.	C	G	1669.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.34;DP=292;ExcessHet=0;FS=0.729;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.78;ReadPosRankSum=-0.754;SOR=0.813	GT:AD:DP:GQ:PL	0/1:43,70:113:99:1680,0,943	6	0	1	0
chr12	109953190	109953190	C	T	exonic	GIT2	.	nonsynonymous SNV	GIT2:NM_001135214:exon13:c.G1144A:p.V382I,GIT2:NM_001330153:exon13:c.G1141A:p.V381I,GIT2:NM_001330154:exon13:c.G1144A:p.V382I,GIT2:NM_014776:exon13:c.G1144A:p.V382I,GIT2:NM_057169:exon13:c.G1144A:p.V382I,GIT2:NM_057170:exon13:c.G1144A:p.V382I,GIT2:NM_139201:exon13:c.G1144A:p.V382I,GIT2:NM_001135213:exon14:c.G1150A:p.V384I	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.0123487716673	.	0.000998403	0.0007	9.612e-05	8.637e-05	0	0	1.498e-05	0	0.0051	0.0005951	92	154602	rs560157222	0.0003	0.0003	0.0002	0.0005	0.0052	0.0003	0.0003	0.0048	0.0047	5.974e-05	0	0	0	0	0	9.894e-06	0.0002	0.0052	0.0002	0.0002	6.424e-05	0.0003	0.0054	0.0001	0.0001	0.0038	0.0032	7.218e-05	0	0	0	0	0	0	0	0	0.0054	0.23	0.18498	T	0.199	0.27679	T	0.0	0.07471	B	0.0	0.06944	B	0.140997	0.18291	N	0.604715	1	0.08975	N	0	0.06538	N	-0.54	0.71068	T	-0.12	0.09627	N	0.088	0.07673	-1.0049	0.28487	T	0.133	0.44583	T	10	0.003067702	0.00051	T	0.012349	0.30844	T	0.066	0.19193	0.223	0.14665	0.336933722576	0.33308	0.07039887773780903	0.06976	0.397440186395	0.40830	0.226068466902	0.01690	T	0.036986	0.24309	T	-0.491049	0.00641	T	-0.477594	0.24703	T	0.0142833958114729	0.00284	T	0.650635	0.27311	T	0.051526956	0.09476	0.055466983	0.09736	0.051526956	0.09476	0.055466983	0.09736	-6.365	0.54782	T	.	.	0.061	0.01428	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	0.113544	0.05123	1.652	0.88302031965010586	0.17871	0.01652	0.05304	N	AEFBI	0.053394	0.09616	N	-1.36251334971926	0.02997	0.1332011	-1.35250853985041	0.03776	0.1768558	0.999947620840583	0.47345	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.22	-4.34	0.03412	0.052000	0.14046	-4.019000	0.02390	-1.790000	0.00639	0.001000	0.13787	0.000000	0.08366	0.816000	0.38450	0.0:0.2543:0.0:0.7457	12.950	0.57795	577	0.69927	.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.07143	966.49	34	chr12	109953190	.	C	T	966.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.478;DP=270;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.07;ReadPosRankSum=-1.175;SOR=0.625	GT:AD:DP:GQ:PL	0/1:51,45:96:99:977,0,1174	6	0	1	0
chr12	113200761	113200761	A	G	exonic	IQCD	.	nonsynonymous SNV	IQCD:NM_001330452:exon3:c.T782C:p.V261A	.	423	1096	3	0	0	3	0.00136674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	.	.	0.00279553	0.0074	0	0	0	0	0	0	0.0120	0.0007633	118	154602	rs368434644	0.0007	0.0006	0.0004	0.0010	0.0110	0.0006	0.0006	0.0104	0.0102	9.5e-05	2.806e-05	0	0	0	0.0004	9.27e-06	0.0007	0.0110	0.0004	0.0004	0.0002	0.0006	0.0116	0.0003	0.0003	0.0092	0.0083	7.215e-05	0	0	0	0	0	0	0	0	0.0116	0.006	0.63226	D	0.108	0.62352	T	0.999	0.77913	D	0.962	0.70672	D	.	.	.	.	0.945733	0.81001	D	.	.	.	3.07	0.08547	T	-2.74	0.58248	D	0.366	0.48134	-1.0665	0.10200	T	0.043	0.18535	T	8	0.006459415	0.00146	T	.	.	.	0.158	0.41098	0.333	0.32005	0.255777322467	0.25185	0.5225190703350903	0.52174	.	.	.	.	.	0.186587	0.53993	T	-0.428412	0.01515	T	-0.377772	0.35983	T	0.161174161595868	0.17957	T	0.655434	0.26547	T	0.24971074	0.47968	0.3798137	0.63028	0.24971074	0.47968	0.3798137	0.63027	-4.144	0.25936	T	.	.	0.535	0.71896	A	.;.	.;.	3.652541	0.51852	23.2	0.99783710664456959	0.87043	0.95338	0.64331	D	AEFBI	0.569861	0.57447	D	0.509614700493387	0.67656	5.111	0.547468970746534	0.71221	5.621877	0.999991304114212	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.8	5.8	0.92081	5.891000	0.69523	9.274000	0.79659	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	15.133	0.72216	734	0.53889	.;.	.	.	.	.	.	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	866.53	37	chr12	113200761	.	A	G	866.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.199;DP=268;ExcessHet=0;FS=1.699;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.67;ReadPosRankSum=2.14;SOR=0.879	GT:AD:DP:GQ:PL	0/1:61,39:100:99:877,0,1632	6	0	1	0
chr12	122546216	122546216	C	T	exonic	KNTC1	.	nonsynonymous SNV	KNTC1:NM_014708:exon9:c.C710T:p.S237F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.0094565887077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.166	0.23183	T	0.045	0.63918	D	0.38	0.41422	B	0.191	0.39164	B	0.029623	0.25426	N	0.436388	0.997776	0.22513	N	1.95	0.52479	M	0.9	0.45248	T	-1.96	0.49846	N	0.257	0.29081	-1.0576	0.12362	T	0.104	0.38243	T	10	0.10405174	0.19163	T	0.009457	0.24786	T	0.077	0.22490	0.287	0.24601	0.480497669815	0.47680	0.19170680487129962	0.19088	0.0743754576111	0.08337	0.314873933792	0.12644	T	0.023218	0.20683	T	-0.194668	0.21577	T	-0.517403	0.20559	T	0.833972215652466	0.48842	D	0.59614	0.23930	T	0.08111155	0.18621	0.11062912	0.26677	0.08111155	0.18620	0.11062912	0.26676	-3.132	0.11668	T	.	.	0.093	0.13969	B	.;.	.;.	1.993388	0.25328	16.72	0.96801931145903364	0.31154	0.53390	0.29360	D	AEFDGBHCI	0.106408	0.21231	N	-0.40114500646272	0.25428	1.380335	-0.342602729448469	0.26737	1.478883	0.999947791431704	0.47345	0.730579	0.87903	0	0.749866	0.99406	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.51	4.61	0.56724	2.580000	0.45733	1.685000	0.28035	-0.172000	0.11096	0.249000	0.24839	0.977000	0.30130	0.956000	0.50813	0.0:0.928:0.0:0.072	16.196	0.81842	.	.	.;.	.	.	.	.	.	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	470.27	33	chr12	122546216	.	C	T	470.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.617;DP=204;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.01;ReadPosRankSum=0.447;SOR=0.622	GT:AD:DP:GQ:PL	0/1:24,23:47:99:480,0,485	5	0	1	1
chr12	123321580	123321580	C	T	exonic	SBNO1	.	nonsynonymous SNV	SBNO1:NM_001167856:exon17:c.G2278A:p.D760N,SBNO1:NM_018183:exon17:c.G2275A:p.D759N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.0170678802019	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1475388843	6.841e-07	6.84e-07	1.361e-06	0	2.236e-05	0	0	.	.	0	2.236e-05	0	0	0	0	0	0	0	6.576e-06	6.569e-06	1.286e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.049	0.40573	D	0.056	0.47828	T	0.999	0.90584	D	0.886	0.68407	P	0.000000	0.84330	D	0.051027	1	0.81001	D	2.415	0.69758	M	1.22	0.37052	T	-3.1	0.63554	D	0.667	0.67564	-0.8178	0.54071	T	0.200	0.55667	T	10	0.43694803	0.57854	T	0.017068	0.38615	T	0.158	0.41098	0.135	0.03920	0.298199939746	0.29431	0.3691525881020521	0.36829	1.67767398834	0.89937	0.788200736046	0.80169	T	0.168436	0.51545	T	-0.149955	0.28317	T	-0.453177	0.27346	T	0.98172003030777	0.74070	D	0.974603	0.90967	D	0.4001578	0.60743	0.25630468	0.51327	0.4001578	0.60743	0.25630468	0.51326	-6.131	0.47769	T	.	.	0.241	0.50862	B	.;.;.	.;.;.	4.332085	0.66395	25.0	0.99932390440890206	0.99439	0.98716	0.85943	D	AEFGBI	0.806380	0.73071	D	0.732377600867274	0.81754	7.596989	0.739194559636542	0.85347	8.553618	0.999999968816612	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.46	5.46	0.80021	7.224000	0.77527	7.570000	0.60688	0.530000	0.24713	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:1.0:0.0:0.0	19.307	0.94155	457	0.78953	.;.;.	.	.	.	.	.	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	175.83	69	chr12	123321580	.	C	T	175.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-4.457;DP=407;ExcessHet=0;FS=92.361;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=1.29;ReadPosRankSum=1.77;SOR=7.168	GT:AD:DP:GQ:PL	0/1:101,35:136:99:186,0,1683	6	0	1	0
chr12	133057131	133057131	A	G	exonic	ZNF84	.	nonsynonymous SNV	ZNF84:NM_001127372:exon5:c.A416G:p.H139R,ZNF84:NM_001289971:exon5:c.A416G:p.H139R,ZNF84:NM_001289972:exon5:c.A416G:p.H139R,ZNF84:NM_003428:exon5:c.A416G:p.H139R	.	437	1040	43	2	0	47	0.0220969	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.00447556693994	.	.	.	.	.	.	.	.	.	.	0.0009444	146	154602	rs34737533	0.0090	0.0090	0.0083	0.0096	0.0264	0.0088	0.0088	0.0255	0.0251	0.0013	0.0020	0.0211	5.043e-05	0.0117	0.0153	0.0080	0.0088	0.0264	0.0062	0.0062	0.0059	0.0065	0.0253	0.0059	0.0057	0.0216	0.0203	0.0013	0	0.0018	0.0248	0	0.0106	0.0136	0.0077	0.0047	0.0253	0.114	0.28646	T	0.242	0.24264	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.81001	D	0.695	0.17993	N	3.28	0.06523	T	-1.93	0.48020	N	0.106	0.09914	-0.9089	0.46989	T	0.011	0.04181	T	9	0.00363034	0.00066	T	0.004476	0.10969	T	0.034	0.08419	0.324	0.30549	0.0884992946249	0.08302	0.024537132809481346	0.02404	.	.	0.391508877277	0.23882	T	0.023923	0.22444	T	-0.28398	0.10251	T	-0.645694	0.09259	T	0.0269218725694647	0.01533	T	0.00476952	0.20971	T	0.10477009	0.24768	0.11534372	0.27843	0.10477009	0.24768	0.11534372	0.27842	-5.897	0.45410	T	.	.	0.119	0.24498	B	.;.;.;.;.	.;.;.;.;.	1.430539	0.18485	13.76	0.81679202589218514	0.13806	0.05815	0.11754	N	AEFGBI	0.065066	0.12669	N	-0.815567604091794	0.12913	0.63255	-0.763042789295934	0.15402	0.8098858	0.00987751702512974	0.11927	0.562547	0.31514	0	0.614415	0.52539	0	0.670488	0.60580	0	0.635551	0.53088	0	.	.	2.4	1.25	0.20475	0.055000	0.14112	0.928000	0.22757	0.691000	0.84096	0.000000	0.06391	0.000000	0.08366	0.998000	0.85391	0.8275:0.0:0.1725:0.0	4.153	0.09711	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	0	0	.	.	.	.	.	.	.	.	0.07143	1367.45	34	chr12	133057131	.	A	G	1367.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.608;DP=339;ExcessHet=0;FS=3.092;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.13;ReadPosRankSum=1.39;SOR=0.837	GT:AD:DP:GQ:PL	0/1:73,62:135:99:1378,0,1892	6	0	1	0
chr12	133121017	133121017	G	A	exonic	ZNF891	.	nonsynonymous SNV	ZNF891:NM_001277291:exon2:c.C902T:p.T301M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	.	.	0.000199681	0.0022	0	0.0096	0	.	0	0.025	0.0027	0.0001617	25	154602	rs184188224	0.0002	0.0002	0.0002	0.0003	0.0025	0.0002	0.0002	0.0021	0.0020	0.0002	0.0025	7.944e-05	0	0	0.0004	3.43e-05	0.0002	0.0024	0.0002	0.0002	0.0002	0.0003	0.0021	0.0002	0.0002	0.0011	0.0009	0.0002	0	0.0011	0.0006	0	0	0	1.47e-05	0	0.0021	0.058	0.37750	T	0.124	0.35455	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0.06538	N	3.28	0.06523	T	-0.7	0.19933	N	0.154	0.15888	-0.9938	0.31617	T	0.013	0.04843	T	5	0.0071231723	0.00162	T	.	.	.	0.006	0.00375	.	.	0.043077524339	0.03247	0.03715907084406774	0.03662	0.0285135684416	0.02934	0.22306625545	0.01494	T	0.00579	0.05238	T	-0.668913	0.00056	T	-0.736989	0.04019	T	0.0108113122875222	0.00153	T	0.134587	0.01064	T	0.016133105	0.00178	0.03605774	0.02977	0.016133105	0.00178	0.03605774	0.02977	-5.207	0.39013	T	.	.	0.108	0.20313	B	.	.	1.133771	0.15208	11.67	0.6919664740357363	0.08895	0.03510	0.08688	N	AEFBHI	0.037759	0.05242	N	-0.726861287964368	0.15269	0.7680553	-0.948577113404665	0.10956	0.555196	4.60098605879763E-4	0.07036	0.562547	0.31514	0	0.588066	0.40923	0	0.608884	0.39905	0	0.491896	0.07777	0	.	.	3.54	-2.02	0.06981	-0.646000	0.05501	-0.512000	0.08740	-0.273000	0.06669	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.2911:0.0:0.4021:0.3068	3.252	0.06415	856	0.34373	.	.	.	.	.	.	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	2161.44	35	chr12	133121017	.	G	A	2161.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=4.8;DP=395;ExcessHet=0;FS=1.123;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.81;ReadPosRankSum=-0.368;SOR=0.8	GT:AD:DP:GQ:PL	0/1:118,82:200:99:2172,0,2865	6	0	1	0
chr13	25097803	25097803	A	C	exonic	PABPC3	.	nonsynonymous SNV	PABPC3:NM_030979:exon1:c.A1605C:p.Q535H	.	433	1079	10	0	0	10	0.00461255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.174	0.0022041194751	0.0026	0.00159744	0.0028	0.0003	0.0009	0	0.0012	0.0028	0.0033	0.0081	0.0026196	405	154602	rs140585797	0.0029	0.0029	0.0026	0.0031	0.0082	0.0028	0.0028	0.0077	0.0075	0.0002	0.0010	0.0015	2.519e-05	0.0014	0.0049	0.0028	0.0031	0.0082	0.0020	0.0020	0.0019	0.0021	0.0079	0.0018	0.0017	0.0059	0.0052	0.0004	0	0.0028	0.0014	0	0.0008	0.0068	0.0028	0.0009	0.0079	0.105	0.29823	T	0.126	0.35205	T	0.003	0.11197	B	0.016	0.17743	B	0.000493	0.43931	U	0.000000	0.995448	0.42694	D	2.245	0.63543	M	0.81	0.48460	T	-2.95	0.61580	D	0.243	0.27435	-1.0514	0.14009	T	0.138	0.45621	T	10	0.009945214	0.00223	T	0.002204	0.04151	T	0.174	0.44019	0.363	0.36874	0.428976297845	0.42518	0.5516417648263708	0.55090	0.126211385096	0.14226	0.610602974892	0.54401	T	0.123787	0.44838	T	-0.486225	0.00682	T	-0.478468	0.24609	T	0.0356921099656465	0.02927	T	0.839216	0.51320	T	0.11091636	0.26213	0.09467803	0.22420	0.11091636	0.26213	0.09467803	0.22419	-7.212	0.55568	T	.	.	0.123	0.25689	B	.	.	0.760814	0.11303	7.928	0.56447308711234234	0.05554	0.57392	0.30365	D	AEFDBI	0.075518	0.15168	N	-1.1087502421701	0.06486	0.2987389	-1.18826784871792	0.06105	0.2928463	0.00217958636347072	0.09210	0.693126	0.56070	0	0.659464	0.62310	0	0.723109	0.80598	0	0.530356	0.10902	0	.	.	0.875	-0.721	0.10625	0.521000	0.22601	1.979000	0.30024	-2.682000	0.00214	0.999000	0.42656	1.000000	0.68203	0.002000	0.04165	0.8103:0.0:0.1897:0.0	6.569	0.21725	929	0.16858	.	.	.	.	.	.	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	0.002112	0.000000	0.000000	0.007692	0.000000	0.008621	0.000000	0.003817	0.07143	2351.45	91	chr13	25097803	.	A	C	2351.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-4.876;DP=783;ExcessHet=0;FS=2.384;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.53;ReadPosRankSum=-0.027;SOR=0.866	GT:AD:DP:GQ:PL	0/1:106,98:204:99:2362,0,3101	6	0	1	0
chr13	30240482	30240482	T	C	exonic	KATNAL1	.	nonsynonymous SNV	KATNAL1:NM_001014380:exon6:c.A704G:p.K235R,KATNAL1:NM_032116:exon6:c.A704G:p.K235R	.	432	1085	4	1	0	6	0.00275735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.472	0.113222635626	.	0.000199681	3.3e-05	0	8.672e-05	0	0	3.002e-05	0	6.061e-05	3.23e-05	5	154602	rs531441020	5.476e-05	5.472e-05	4.495e-05	6.467e-05	0.0031	4.48e-05	4.15e-05	0.0020	0.0017	2.988e-05	0.0001	0	0	0	0.0031	2.88e-05	6.627e-05	0.0002	1.97e-05	1.968e-05	3.854e-05	0	0.0002	5.24e-06	2.45e-06	.	.	0	0	0	0	0	0	0.0034	0	0.0005	0.0002	0.047	0.40319	D	0.141	0.33442	T	0.35	0.33644	B	0.179	0.35808	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.89	0.83701	M	-3.55	0.94834	D	-2.38	0.52451	N	0.324	0.36464	0.475	0.90199	D	0.752	0.91553	D	10	0.24095717	0.41264	T	0.113223	0.79165	D	0.472	0.76554	0.399	0.42753	0.866189057656	0.86489	0.7836648016738307	0.78317	0.841172558565	0.68078	0.767450690269	0.77043	T	0.114784	0.43286	T	0.0441858	0.57591	T	0.0226648	0.71803	D	0.270003116513284	0.23747	T	0.90321	0.66112	D	0.6116723	0.73318	0.622398	0.77998	0.6116723	0.73319	0.622398	0.77999	-8.418	0.63884	D	.	.	0.090	0.14614	B	.;.	.;.	4.157185	0.62404	24.5	0.99787150752186693	0.87308	0.97579	0.75677	D	AEFDBI	0.688192	0.64928	D	0.225465131749185	0.52437	3.417752	0.372707046222535	0.59888	4.170569	0.999999999903917	0.74766	0.706548	0.73137	0	0.633656	0.55848	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.76	5.76	0.90726	6.255000	0.72423	7.829000	0.70041	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	16.084	0.80840	909	0.22467	.;.	.	.	.	.	.	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	0.001511	0.000000	0.001359	0.002924	0.000000	0.008621	0.000000	0.000000	0.07143	1225.63	35	chr13	30240482	.	T	C	1225.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.576;DP=265;ExcessHet=0;FS=2.878;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.09;ReadPosRankSum=-0.919;SOR=0.446	GT:AD:DP:GQ:PL	0/1:33,54:87:99:1236,0,640	6	0	1	0
chr13	31791844	31791844	A	G	exonic	RXFP2	.	nonsynonymous SNV	RXFP2:NM_001166058:exon14:c.A1112G:p.H371R,RXFP2:NM_130806:exon15:c.A1184G:p.H395R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.222	0.0167298173437	0.0002	.	9.061e-05	9.61e-05	0	0	0	0.0001	0	0	7.76e-05	12	154602	rs146882087	0.0003	0.0003	0.0003	0.0003	0.0004	0.0003	0.0002	0.0003	0.0003	0	0.0002	0	0	0	0	0.0004	1.656e-05	0	9.207e-05	9.196e-05	0.0001	5.385e-05	0.0002	5.532e-05	4.368e-05	9.05e-05	7.014e-05	7.248e-05	0	0	0	0	0	0	0.0002	0	0	0.009	0.57480	D	0.002	0.79402	D	0.022	0.18677	B	0.027	0.21085	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.645	0.77386	M	4.35	0.70717	T	-7.35	0.94620	D	0.346	0.38746	-0.6400	0.63146	T	0.305	0.67630	T	10	0.22356305	0.39137	T	0.01673	0.38123	T	0.222	0.51872	.	.	0.8875212452	0.88641	0.7915219342420435	0.79104	0.234172988239	0.25956	0.565466403961	0.48038	T	0.586468	0.86538	D	-0.0310271	0.47268	T	-0.0179164	0.69166	D	0.547108292579651	0.34369	D	0.842416	0.51891	T	0.6739155	0.76642	0.71306646	0.83069	0.6739155	0.76644	0.71306646	0.83070	-7.814	0.62168	D	.	.	0.149	0.32992	B	.;.	.;.	3.435992	0.47779	22.5	0.98944427818023906	0.48997	0.97894	0.77931	D	AEFBI	0.898310	0.84145	D	0.13429390615309	0.48068	3.023937	0.298255095624702	0.55437	3.706773	0.999999999995697	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.62	5.62	0.85714	6.050000	0.70689	5.070000	0.47169	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	1.0:0.0:0.0:0.0	13.772	0.62519	768	0.49510	.;.	.	.	.	.	.	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	1734.49	33	chr13	31791844	.	A	G	1734.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.35;DP=322;ExcessHet=0;FS=1.318;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.72;ReadPosRankSum=0.745;SOR=0.817	GT:AD:DP:GQ:PL	0/1:70,78:148:99:1745,0,1675	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	0/1:100,56:163:99:114,0,1500	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	0/1:60,75:135:99:1861,0,1325	5	0	2	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	0/1:121,24:150:99:.:.:307,0,4173:.	2	0	5	0
chr13	44574569	44574569	-	TGC	exonic	TSC22D1	.	nonframeshift insertion	TSC22D1:NM_001243799:exon1:c.1505_1506insGCA:p.Q509_P510insQ,TSC22D1:NM_183422:exon1:c.1505_1506insGCA:p.Q509_P510insQ	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0016	.	0.0002	0.0001	0.0002	0	0.0002	0.0002	0	0.0002	3.84e-05	1	26028	rs778348325	0.0002	0.0002	0.0002	0.0002	0.0012	0.0002	0.0002	0.0006	0.0004	9.407e-05	0.0003	3.833e-05	7.565e-05	9.401e-05	0.0012	0.0002	0.0002	0.0004	0.0003	0.0003	0.0002	0.0003	0.0013	0.0002	0.0002	0.0009	0.0007	0.0001	0	0.0013	0.0003	0.0004	9.454e-05	0.0034	0.0002	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1748.45	41	chr13	44574569	.	T	TTGC	1748.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.19;DP=361;ExcessHet=0;FS=6.219;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=16.34;ReadPosRankSum=0.637;SOR=0.32	GT:AD:DP:GQ:PL	0/1:60,47:107:99:1759,0,2211	6	0	1	0
chr13	50945445	50945445	G	A	exonic	RNASEH2B	.	nonsynonymous SNV	RNASEH2B:NM_001142279:exon7:c.G529A:p.A177T,RNASEH2B:NM_024570:exon7:c.G529A:p.A177T	Aicardi-Goutieres syndrome 2, Autosomal recessive	0	1515	5	2	0	9	0.0029615	.	.	YES	16301	Inborn_genetic_diseases|Aicardi_Goutieres_syndrome|not_provided|Autism_spectrum_disorder|Aicardi-Goutieres_syndrome_2|RNASEH2B-related_disorder|Cerebral_palsy|Abnormality_of_the_nervous_system	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0018866,MedGen:C0393591,OMIM:PS225750,Orphanet:51|MedGen:C3661900|MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586,Orphanet:106|MONDO:MONDO:0012429,MedGen:C3489724,OMIM:610181,Orphanet:51|.|Human_Phenotype_Ontology:HP:0100021,MONDO:MONDO:0006497,MedGen:C0007789|Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	0.614	0.221342489028	0.0020	0.000199681	0.0013	0.0002	0.0004	0	0.0002	0.0019	0.0011	0.0013	0.0014165	219	154602	rs75184679	0.0021	0.0021	0.0021	0.0021	0.0024	0.0020	0.0020	0.0024	0.0023	0.0004	0.0009	0.0002	0	7.492e-05	0.0021	0.0024	0.0018	0.0015	0.0015	0.0015	0.0015	0.0014	0.0026	0.0013	0.0012	0.0020	0.0019	0.0003	0	0.0026	0.0003	0	0.0002	0	0.0023	0.0028	0.0008	0.219	0.19023	T	0.196	0.60972	T	0.988	0.62325	D	0.886	0.62898	P	0.000012	0.62929	D	0.148357	0.933693	0.37063	A	2.74	0.80084	M	-3.97	0.96243	D	-1.77	0.41809	N	0.787	0.78356	0.949	0.96385	D	0.921	0.97395	D	9	0.051852375	0.05129	T	0.221342	0.87801	D	0.614	0.84932	.	.	0.892929291226	0.89187	0.38263978777403707	0.38178	0.0592956091036	0.06588	0.465158879757	0.34017	T	0.494471	0.81760	T	0.00436128	0.52254	T	0.231067	0.84721	D	0.0755362726815668	0.09406	T	0.863614	0.55989	D	0.3460739	0.56759	0.2921717	0.55244	0.3015534	0.53044	0.2830488	0.54294	-4.08	0.24994	T	0.218766636552003	0.29465	0.116	0.28435	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	2.844995	0.37545	20.5	0.99673558120069894	0.78782	0.81897	0.41212	D	AEFBI	0.440385	0.49897	N	0.372666509330446	0.59944	4.178436	0.284531613780402	0.54636	3.628017	0.999567181338769	0.40425	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.78	5.78	0.91418	4.693000	0.61438	7.577000	0.60860	0.676000	0.76740	0.992000	0.37556	1.000000	0.68203	0.892000	0.42986	0.0:0.0:1.0:0.0	17.508	0.87646	847	0.35998	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	1	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	2119.44	35	chr13	50945445	.	G	A	2119.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.254;DP=367;ExcessHet=0;FS=0.555;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.04;ReadPosRankSum=-0.728;SOR=0.78	GT:AD:DP:GQ:PL	0/1:82,94:176:99:2130,0,1896	6	0	1	0
chr13	52460946	52460946	C	A	exonic	CKAP2	.	nonsynonymous SNV	CKAP2:NM_001098525:exon3:c.C206A:p.T69N,CKAP2:NM_001286686:exon3:c.C59A:p.T20N,CKAP2:NM_001286687:exon3:c.C203A:p.T68N,CKAP2:NM_018204:exon3:c.C203A:p.T68N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.0113888671896	.	.	8.306e-06	0	0	0	0	1.516e-05	0	0	6.5e-06	1	154602	rs765710419	1.368e-06	1.368e-06	1.361e-06	1.375e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	0	0	1.16e-05	6.597e-06	6.571e-06	0	1.353e-05	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.033	0.44358	D	0.12	0.46182	T	0.96	0.55278	D	0.663	0.52893	P	0.093613	0.20215	N	0.515192	1	0.08975	N	2.015	0.55033	M	1.4	0.33630	T	-1.6	0.54546	N	0.245	0.27673	-0.9974	0.30646	T	0.122	0.42420	T	10	0.13341239	0.25393	T	0.011389	0.28966	T	0.059	0.16972	0.144	0.04746	0.30212335484	0.29822	0.09200176115005544	0.09133	0.204409147722	0.22864	0.339440405369	0.16354	T	0.262224	0.63377	T	-0.276782	0.11012	T	-0.635354	0.10012	T	0.20604388585921	0.20745	T	0.69643	0.32034	T	0.053467706	0.10121	0.07035411	0.14936	0.053467706	0.10121	0.07035411	0.14935	-3.021	0.12298	T	.	.	0.104	0.28521	B	.;.;.;.;.	.;.;.;.;.	2.023578	0.25718	16.86	0.97557119736330944	0.34598	0.06068	0.12040	N	AEFBI	0.039558	0.05762	N	-0.25626111795242	0.30854	1.724378	-0.457053333511642	0.23349	1.272842	0.999554789351591	0.40362	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.88	1.7	0.23359	0.041000	0.13813	1.018000	0.23383	0.599000	0.40250	0.000000	0.06391	0.002000	0.18203	0.032000	0.13371	0.447:0.4655:0.0:0.0875	6.686	0.22333	612	0.66786	.;.;.;.;.	.	.	.	.	.	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	2430.46	34	chr13	52460946	.	C	A	2430.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.805;DP=416;ExcessHet=0;FS=3.165;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.91;ReadPosRankSum=0.113;SOR=0.504	GT:AD:DP:GQ:PL	0/1:98,106:204:99:2441,0,2393	6	0	1	0
chr13	78617030	78617030	T	C	exonic	OBI1	.	nonsynonymous SNV	OBI1:NM_024546:exon6:c.A731G:p.D244G	.	417	1095	3	0	7	10	0.00136799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.319	0.00972581034681	.	0.000798722	0.0011	0	0	0	0	0.0001	0.0011	0.0074	0.0008603	133	154602	rs570836832	0.0005	0.0005	0.0003	0.0007	0.0064	0.0005	0.0005	0.0060	0.0058	5.978e-05	4.474e-05	0	2.519e-05	0	0.0024	0.0001	0.0006	0.0064	0.0002	0.0002	0.0002	0.0003	0.0046	0.0002	0.0001	0.0031	0.0026	4.81e-05	0	6.533e-05	0	0	0	0.0068	8.818e-05	0	0.0046	0.0	0.91255	D	0.007	0.69154	D	1.0	0.90584	D	0.998	0.88582	D	0.000158	0.49130	D	0.179024	0.999998	0.58761	D	2.215	0.62545	M	.	.	.	-3.34	0.66325	D	0.751	0.75009	-0.1881	0.77976	T	0.419	0.76476	T	9	0.0128490925	0.00275	T	0.009726	0.25404	T	0.319	0.64112	0.2	0.11384	0.809070757708	0.80728	0.4156072449191975	0.41476	0.292689891188	0.31689	0.687154173851	0.65297	T	0.438365	0.78405	T	0.0374092	0.56706	T	0.283849	0.87330	D	0.0823630783836047	0.10287	T	0.913309	0.69109	D	0.5710109	0.71116	0.66826916	0.80542	0.5710109	0.71117	0.66826916	0.80543	-11.891	0.84315	D	.	.	0.946	0.86453	P	.	.	4.663156	0.74453	26.2	0.99790746826106391	0.87661	0.98607	0.84635	D	AEFBI	0.875270	0.79859	D	0.814025393453059	0.86975	9.061182	0.822640626126498	0.91322	10.82813	0.999999999971698	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.17	6.17	0.99707	6.917000	0.75604	7.947000	0.75742	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	16.822	0.85699	653	0.62661	.	.	.	.	.	.	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	1024.45	35	chr13	78617030	.	T	C	1024.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.94;DP=301;ExcessHet=0;FS=4.509;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.54;ReadPosRankSum=-0.4;SOR=0.571	GT:AD:DP:GQ:PL	0/1:74,46:120:99:1035,0,1759	6	0	1	0
chr13	102734431	102734431	C	T	exonic	CCDC168	.	nonsynonymous SNV	CCDC168:NM_001146197:exon4:c.G16266A:p.M5422I	.	428	1076	17	1	0	19	0.00875173	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.00599331572756	.	0.000599042	0.0018	0	0	0	0	0.0001	0	0.0043	0.0002458	38	154602	rs557009429	0.0003	0.0003	0.0002	0.0005	0.0043	0.0003	0.0003	0.0039	0.0038	0.0001	0.0001	0	2.799e-05	4.059e-05	0.0026	8.25e-05	0.0002	0.0043	0.0002	0.0002	0.0001	0.0003	0.0027	0.0001	0.0001	0.0016	0.0013	2.406e-05	0	6.545e-05	0	0	9.411e-05	0	0.0001	0.0009	0.0027	.	.	.	0.032	0.53426	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.337	0.37820	-0.9384	0.42869	T	0.006	0.02018	T	9	0.005258113	0.00115	T	0.005993	0.15638	T	0.025	0.05312	.	.	0.0297737177859	0.01360	0.02646443039572472	0.02596	.	.	0.256388962269	0.04470	T	.	.	.	-0.548027	0.00300	T	-0.559575	0.16416	T	0.00864082868380759	0.00106	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.339	0.55822	B	.	.	-0.907791	0.00913	0.034	0.9041419461194945	0.19674	0.00641	0.02803	N	AEFGBI	0.024370	0.01498	N	-1.07566995000437	0.07093	0.3285252	-1.16687016483282	0.06470	0.3115535	0.996497588005563	0.34784	0.549168	0.22868	0	0.610034	0.51514	0	0.573888	0.23631	0	0.616125	0.45549	0	.	.	3.02	-3.19	0.04853	-1.587000	0.02211	-3.446000	0.02781	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.055000	0.15596	0.3263:0.2638:0.0:0.4099	2.966	0.05546	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	0.002770	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.042857	0.07143	2188.44	86	chr13	102734431	.	C	T	2188.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.635;DP=631;ExcessHet=0;FS=3.64;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.93;ReadPosRankSum=-0.148;SOR=0.817	GT:AD:DP:GQ:PL	0/1:149,96:245:99:2199,0,3844	6	0	1	0
chr13	102737670	102737670	C	G	exonic	CCDC168	.	nonsynonymous SNV	CCDC168:NM_001146197:exon4:c.G13027C:p.V4343L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.296e-05	0.0009	1.28e-05	1.313e-05	3.19e-05	8.1e-06	6.68e-06	9.68e-06	7.91e-06	3.19e-05	0	0	0	0	0	1.589e-05	0	0	6.741e-06	1.989e-05	0	1.384e-05	1.492e-05	0	0	.	.	0	0	0	0	0	0	0	1.492e-05	0	0	.	.	.	0.044	0.49663	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	0.16028	.	.	.	.	.	.	.	0.08621222	0.14631	T	.	.	.	.	.	.	.	0.0806252709748	0.07271	0.08298472189106709	0.08233	.	.	0.344727694988	0.17142	T	.	.	.	-0.118802	0.33320	T	-0.408427	0.32407	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.211	0.43882	B	.	.	-0.018962	0.04151	0.996	0.36670154075650313	0.02372	0.03259	0.08291	N	AEFBI	.	.	.	.	.	.	.	.	.	0.929394545130418	0.26967	0.06567	0.01388	0	0.059962	0.00310	0	0.063197	0.01477	0	0.075334	0.01956	0	0.0516762	0.10602	2.37	-0.837	0.10221	0.258000	0.18156	-2.744000	0.03406	0.581000	0.30040	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.4159:0.0:0.5841	5.246	0.14815	952	0.10565	.	.	.	.	.	.	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	71.58	97	chr13	102737670	.	C	G	71.58	.	AC=2;AF=0.2;AN=10;BaseQRankSum=-4.049;DP=780;ExcessHet=0.3476;FS=432.914;MLEAC=2;MLEAF=0.2;MQ=60;MQRankSum=0;QD=0.35;ReadPosRankSum=0.882;SOR=8.909	GT:AD:DP:GQ:PL	0/1:141,47:198:63:63,0,3004	3	0	2	2
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	0/1:162,42:209:74:74,0,3506	4	0	3	0
chr13	114301925	114301925	G	A	exonic	UPF3A	.	nonsynonymous SNV	UPF3A:NM_001353644:exon7:c.G599A:p.S200N,UPF3A:NM_001353646:exon7:c.G599A:p.S200N,UPF3A:NM_001353649:exon7:c.G587A:p.S196N,UPF3A:NM_001353647:exon8:c.G599A:p.S200N,UPF3A:NM_001353648:exon8:c.G599A:p.S200N,UPF3A:NM_080687:exon8:c.G1103A:p.S368N,UPF3A:NM_001353645:exon9:c.G599A:p.S200N,UPF3A:NM_001353650:exon9:c.G587A:p.S196N,UPF3A:NM_023011:exon9:c.G1202A:p.S401N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.0131570505153	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.393	0.10730	T	0.789	0.05707	T	0.002	0.15535	B	0.003	0.12133	B	0.608642	0.10888	N	0.847047	0.995395	0.23301	N	1.01	0.25309	L	-1.42	0.80645	T	-0.42	0.14193	N	0.106	0.12198	-0.9209	0.45431	T	0.248	0.61704	T	9	0.08412802	0.14067	T	0.013157	0.32344	T	0.077	0.22490	0.218	0.13932	0.826173596387	0.82452	0.028771188836604556	0.02827	0.161903528534	0.18264	0.361519306898	0.19607	T	0.001425	0.00883	T	-0.199017	0.20947	T	-0.52365	0.19925	T	0.0504586418347531	0.05581	T	0.519248	0.16884	T	0.019892972	0.00530	0.033765323	0.02327	0.019892972	0.00530	0.033765323	0.02326	-5.504	0.41905	T	.	.	0.086	0.17700	B	.;.	.;.	0.211766	0.05954	2.392	0.75584978553886684	0.11132	0.71590	0.35079	D	AEFBI	0.084446	0.17114	N	-0.564472322985564	0.20031	1.053027	-0.470573285432233	0.22969	1.250237	0.809908035207129	0.24336	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	4.94	1.66	0.23081	0.580000	0.23505	0.289000	0.16851	0.676000	0.76740	1.000000	0.71638	0.000000	0.08366	0.027000	0.12703	0.3857:0.0:0.4205:0.1938	3.160	0.06128	946	0.12043	.;.	.	.	.	.	.	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	35.17	23	chr13	114301925	.	G	A	35.17	.	AC=1;AF=0.125;AN=8;BaseQRankSum=-1.371;DP=241;ExcessHet=0;FS=78.651;MLEAC=1;MLEAF=0.125;MQ=51.82;MQRankSum=-0.575;QD=0.58;ReadPosRankSum=1.1;SOR=6.735	GT:AD:DP:GQ:PL	0/1:43,18:68:43:43,0,850	3	0	1	3
chr14	20223833	20223833	C	A	exonic	OR11H6	.	nonsynonymous SNV	OR11H6:NM_001004480:exon1:c.C124A:p.Q42K	.	426	1070	26	0	0	26	0.0120037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	0.00327869525543	0.0024	0.00119808	0.0034	0.0011	0.0013	0.0001	0.0006	0.0037	0.0033	0.0082	0.00315	487	154602	rs141900029	0.0030	0.0030	0.0029	0.0032	0.0104	0.0030	0.0029	0.0083	0.0080	0.0007	0.0013	0.0001	2.519e-05	0.0008	0.0104	0.0030	0.0026	0.0087	0.0018	0.0018	0.0017	0.0020	0.0060	0.0017	0.0016	0.0043	0.0037	0.0009	0	0.0019	0	0	9.422e-05	0.0034	0.0026	0.0024	0.0060	0.017	0.51248	D	0.014	0.62352	D	0.012	0.16265	B	0.023	0.19966	B	0.119927	0.19055	U	0.376412	1	0.08975	N	1.635	0.41844	L	6.35	0.00549	T	-3.42	0.67241	D	0.218	0.24385	-0.9727	0.36627	T	0.003	0.00994	T	10	0.0035639107	0.00064	T	0.003279	0.07268	T	0.079	0.23065	.	.	0.329020015101	0.32502	0.292342756751229	0.29147	0.0761378595763	0.08550	0.271162599325	0.06293	T	0.030945	0.21813	T	-0.505184	0.00534	T	-0.493171	0.23058	T	0.00777657093720953	0.00091	T	0.415458	0.10884	T	0.30383703	0.53247	0.2764091	0.53585	0.30383703	0.53247	0.2764091	0.53584	-6.075	0.46902	T	.	.	0.101	0.17700	B	.	.	1.757513	0.22356	15.59	0.95042505583902015	0.26050	0.09560	0.15289	N	AEFDBI	0.047087	0.07891	N	-0.481381383298096	0.22691	1.213424	-0.493516027424413	0.22331	1.21242	0.988747229721845	0.31614	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.93	3.03	0.34070	1.181000	0.31626	0.565000	0.19549	0.570000	0.28895	0.001000	0.13787	0.000000	0.08366	0.454000	0.27984	0.0:0.8926:0.0:0.1074	9.515	0.38263	964	0.07719	.	.	.	.	.	.	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	0.000000	0.008152	0.002924	0.000000	0.008621	0.003049	0.015152	0.07143	1809.44	34	chr14	20223833	.	C	A	1809.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.789;DP=341;ExcessHet=0;FS=0.62;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.57;ReadPosRankSum=-0.116;SOR=0.768	GT:AD:DP:GQ:PL	0/1:74,70:144:99:1820,0,1912	6	0	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	0/1:89,24:127:13:13,0,1908	4	0	2	1
chr14	20801831	20801831	C	G	exonic	RNASE1	.	nonsynonymous SNV	RNASE1:NM_002933:exon2:c.G238C:p.V80L,RNASE1:NM_198232:exon2:c.G238C:p.V80L,RNASE1:NM_198234:exon3:c.G238C:p.V80L,RNASE1:NM_198235:exon3:c.G238C:p.V80L	.	433	1076	13	0	0	13	0.00600462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.173	0.0345152273681	0.0012	0.000998403	0.0011	0.0005	0.0011	0	0	0.0015	0.0022	0.0006	0.001009	156	154602	rs142457376	0.0008	0.0008	0.0008	0.0008	0.0107	0.0008	0.0008	0.0086	0.0078	0.0005	0.0014	0.0131	0	0	0.0107	0.0005	0.0019	0.0006	0.0012	0.0012	0.0012	0.0013	0.0028	0.0011	0.0010	0.0021	0.0019	0.0005	0	0.0028	0.0170	0	0	0.0068	0.0007	0.0024	0.0010	0.184	0.21634	T	0.287	0.21545	T	0.538	0.37867	P	0.737	0.55577	P	0.081637	0.02360	N	1.935630	1	0.08975	N	2.585	0.75554	M	-0.65	0.72237	T	-0.99	0.26200	N	0.085	0.12055	-0.8234	0.53720	T	0.366	0.72613	T	10	0.0060372055	0.00136	T	0.034515	0.55729	D	0.173	0.43840	0.393	0.41770	0.761234673595	0.75906	0.4274137724611425	0.42658	0.180965121271	0.20352	0.32569488883	0.14282	T	0.129211	0.45735	T	-0.502198	0.00556	T	-0.524228	0.19868	T	0.069470806208133	0.08577	T	0.935406	0.75832	D	0.1311033	0.30570	0.09673391	0.22997	0.1311033	0.30570	0.09673391	0.22997	-3.438	0.15573	T	.	.	0.126	0.26638	B	.;.;.;.;.	.;.;.;.;.	1.445275	0.18657	13.85	0.98001122826058029	0.37476	0.05891	0.11841	N	AEFDBHCI	0.244363	0.36548	N	-0.368410717697269	0.26600	1.453022	-0.526823143439364	0.21426	1.159001	0.999999999920046	0.74766	0.758104	0.99027	0	0.491513	0.07743	0	0.691618	0.62860	0	0.657601	0.63696	0	.	.	5.16	0.835	0.18020	-0.677000	0.05315	-1.098000	0.06337	0.597000	0.34315	0.000000	0.06391	0.000000	0.08366	0.730000	0.35099	0.1528:0.4635:0.2973:0.0864	3.955	0.08880	573	0.70213	Ribonuclease A-domain|Ribonuclease A-domain;Ribonuclease A-domain|Ribonuclease A-domain;Ribonuclease A-domain|Ribonuclease A-domain;Ribonuclease A-domain|Ribonuclease A-domain;Ribonuclease A-domain|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	0.009063	0.005051	0.010870	0.014620	0.000000	0.008621	0.009146	0.000000	0.07143	2208.44	36	chr14	20801831	.	C	G	2208.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.334;DP=371;ExcessHet=0;FS=1.179;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.07;ReadPosRankSum=-1.443;SOR=0.577	GT:AD:DP:GQ:PL	0/1:95,88:183:99:2219,0,2463	6	0	1	0
chr14	24037766	24037766	G	A	exonic	DHRS4	.	unknown	UNKNOWN	.	416	1093	13	0	0	13	0.00591178	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.311	.	0.0002	0.00199681	0.0005	0.0001	0.0010	0	0	0.0003	0	0.0013	0.0004981	77	154602	rs182020864	0.0004	0.0004	0.0003	0.0004	0.0064	0.0004	0.0003	0.0048	0.0042	0.0002	0.0012	3.842e-05	2.528e-05	0	0.0064	0.0002	0.0010	0.0018	0.0008	0.0008	0.0007	0.0009	0.0056	0.0007	0.0006	0.0047	0.0043	0.0001	0	0.0056	0	0	0	0.0068	0.0002	0.0028	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	0.007049	0.000000	0.013587	0.023392	0.000000	0.008621	0.000000	0.000000	0.07143	2823.44	33	chr14	24037766	.	G	A	2823.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.198;DP=398;ExcessHet=0;FS=4.788;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.32;ReadPosRankSum=1.45;SOR=0.511	GT:AD:DP:GQ:PL	0/1:92,120:212:99:2834,0,2023	6	0	1	0
chr14	24193097	24193097	C	T	exonic	TM9SF1	.	nonsynonymous SNV	TM9SF1:NM_001014842:exon3:c.G518A:p.R173Q,TM9SF1:NM_001289006:exon3:c.G257A:p.R86Q,TM9SF1:NM_006405:exon3:c.G518A:p.R173Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.00935311641381	7.7e-05	0.000199681	6.59e-05	0	0	0	0	8.99e-05	0	0.0001	7.76e-05	12	154602	rs375509793	0.0001	0.0001	0.0001	0.0001	0.0007	9.603e-05	9.082e-05	0.0002	0.0001	0	8.944e-05	0	5.038e-05	0	0.0007	0.0001	6.623e-05	9.275e-05	4.597e-05	4.594e-05	5.141e-05	4.029e-05	0.0002	2.108e-05	1.526e-05	2.847e-05	1.859e-05	0	0	0	0	0	0	0	7.352e-05	0.0005	0.0002	0.424	0.24468	T	0.431	0.14034	T	0.43	0.35583	B	0.148	0.34065	B	0.013398	0.28856	N	0.331355	0.809482	0.36263	D	1.12	0.28775	L	0.7	0.51474	T	-1.33	0.33197	N	0.151	0.30687	-0.9798	0.35048	T	0.081	0.32031	T	10	0.100753486	0.18367	T	0.009353	0.24530	T	0.076	0.22200	.	.	0.67788755631	0.67515	0.6295273893894675	0.62886	0.563462233489	0.52778	0.449931025505	0.31934	T	0.016978	0.13935	T	-0.29834	0.08817	T	-0.440619	0.28738	T	0.0426172491558272	0.04167	T	.	.	.	0.07924449	0.18093	0.062037606	0.12076	0.07924449	0.18093	0.062037606	0.12075	-3.325	0.14061	T	.	.	0.070	0.09772	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	2.974127	0.39654	21.0	0.99027298477869319	0.50721	0.74818	0.36610	D	AEFBI	0.231161	0.35443	N	-0.00903836108567954	0.41446	2.47915	0.0964485671134915	0.44371	2.720037	0.999989057268445	0.51787	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.1	4.11	0.47350	1.339000	0.33489	3.310000	0.37456	0.599000	0.40250	0.992000	0.37556	1.000000	0.68203	0.999000	0.91618	0.0:0.902:0.0:0.098	11.023	0.46944	895	0.25842	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	0.002717	0.002924	0.000000	0.000000	0.003049	0.000000	0.07143	2316.44	35	chr14	24193097	.	C	T	2316.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.79;DP=397;ExcessHet=0;FS=3.185;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.41;ReadPosRankSum=0.241;SOR=0.511	GT:AD:DP:GQ:PL	0/1:113,90:203:99:2327,0,2728	6	0	1	0
chr14	37751121	37751121	A	T	exonic	TTC6	.	nonsynonymous SNV	TTC6:NM_001310135:exon15:c.A3073T:p.T1025S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.114	0.0281361990305	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	0.21968	T	0.687	0.05976	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.91	0.75001	T	-1.17	0.29933	N	0.173	0.18512	-0.4105	0.71695	T	0.349	0.71297	T	4	0.16270098	0.30486	T	0.028136	0.50858	D	0.114	0.32008	0.421	0.46365	0.590905048371	0.58767	.	.	0.0355094227063	0.03747	.	.	.	0.258043	0.62915	T	-0.234259	0.16089	T	-0.574273	0.15060	T	0.0624919423987661	0.07556	T	0.307969	0.05936	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	0.19032	B	.	.	0.716645	0.10854	7.533	0.55909328095496025	0.05441	0.89273	0.49638	D	AEFI	0.209269	0.33527	N	-0.388922304247176	0.25863	1.407116	-0.413188142783978	0.24610	1.348583	2.33496156239582E-4	0.06095	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.58	1.7	0.23359	3.299000	0.51533	1.308000	0.25520	-0.227000	0.07798	0.896000	0.31333	0.000000	0.08366	0.931000	0.46843	0.6345:0.0:0.0:0.3655	10.470	0.43817	610	0.67008	Tetratricopeptide repeat-containing 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	944.44	33	chr14	37751121	.	A	T	944.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.983;DP=271;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.94;ReadPosRankSum=-0.146;SOR=0.622	GT:AD:DP:GQ:PL	0/1:53,42:95:99:955,0,1225	6	0	1	0
chr14	50915919	50915919	G	A	exonic	PYGL	.	nonsynonymous SNV	PYGL:NM_001163940:exon9:c.C1043T:p.P348L,PYGL:NM_002863:exon10:c.C1145T:p.P382L	Glycogen storage disease VI, Autosomal recessive	1	1516	5	0	0	5	0.00164636	.	.	YES	513344	not_specified|PYGL-related_disorder|Glycogen_storage_disease,_type_VI|not_provided	MedGen:CN169374|.|MONDO:MONDO:0009294,MedGen:C0017925,OMIM:232700,Orphanet:369|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.924	0.340959425409	0.0048	0.00179712	0.0045	0.0012	0.0008	0	0.0030	0.0072	0.0022	0.0016	0.0047671	737	154602	rs143759519	0.0056	0.0056	0.0056	0.0055	0.0067	0.0055	0.0054	0.0066	0.0065	0.0011	0.0013	0.0013	0	0.0033	0.0014	0.0067	0.0041	0.0016	0.0043	0.0043	0.0046	0.0039	0.0076	0.0040	0.0039	0.0070	0.0068	0.0012	0.0121	0.0017	0.0014	0	0.0025	0	0.0076	0.0047	0.0010	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.985	0.82059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.38	0.98579	H	-3.34	0.93975	D	-7.89	0.96779	D	0.995	0.99929	0.929	0.96091	D	0.914	0.97153	D	10	0.098901	0.17911	T	0.340959	0.92013	D	0.924	0.98117	.	.	0.996916127999	0.99688	0.9452338491035593	0.94505	0.545350321835	0.51572	0.793032765388	0.80903	T	0.814637	0.95404	D	0.189861	0.72951	D	0.511622	0.94854	D	0.166661954763206	0.18350	T	0.993601	0.97904	D	0.9647362	0.97753	0.90539914	0.95361	0.95915383	0.97195	0.91196984	0.95829	-12.333	0.91398	D	0.7083941485625354	0.78827	0.641	0.70552	P	.;.;.	.;.;.	5.267127	0.88442	29.6	0.99905294881567519	0.97576	0.99350	0.94868	D	AEFGBI	0.930971	0.91907	D	1.10766323443215	0.98274	17.84405	1.01674911766596	0.98926	19.90689	0.999999999999928	0.74766	0.706298	0.61202	0	0.610034	0.51514	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.41	5.41	0.78313	9.968000	0.99102	11.712000	0.94670	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:0.0:1.0:0.0	18.555	0.91034	364	0.84707	.;.;.	.	.	.	.	rs143759519	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	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.006098	0.000000	0.07143	846.63	35	chr14	50915919	.	G	A	846.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.06;DP=267;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.96;ReadPosRankSum=-0.093;SOR=0.708	GT:AD:DP:GQ:PL	0/1:47,38:85:99:857,0,1109	6	0	1	0
chr14	55640948	55640948	G	C	exonic	KTN1	.	nonsynonymous SNV	KTN1:NM_001079521:exon16:c.G1999C:p.E667Q,KTN1:NM_004986:exon16:c.G1999C:p.E667Q,KTN1:NM_001079522:exon17:c.G1999C:p.E667Q,KTN1:NM_001271014:exon17:c.G1999C:p.E667Q	.	429	1081	12	0	0	12	0.00551978	.	.	.	725703	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.117	.	0.0050	0.0133786	0.0045	0.0157	0.0006	0.0015	0	0.0002	0.0034	0.0211	0.0042884	663	154602	rs114095603	0.0018	0.0019	0.0015	0.0022	0.0178	0.0018	0.0018	0.0171	0.0168	0.0178	0.0017	0	0.0010	1.873e-05	0.0059	0.0001	0.0044	0.0178	0.0059	0.0059	0.0058	0.0060	0.0230	0.0056	0.0055	0.0195	0.0182	0.0160	0	0.0043	0	0.0031	0	0	0.0003	0.0095	0.0230	0.011	0.63226	D	0.064	0.52389	T	0.999	0.90584	D	0.997	0.92359	D	0.000048	0.53742	D	0.000000	0.726603	0.33674	D	2.215	0.62545	M	1.42	0.34050	T	-0.71	0.22944	N	0.438	0.58798	-0.8348	0.52989	T	0.074	0.29834	T	10	0.005549133	0.00123	T	.	.	.	0.117	0.32689	.	.	0.273495378476	0.26946	0.23546010802605358	0.23461	0.184370431722	0.20736	0.551588177681	0.46081	T	0.08358	0.37087	T	-0.370693	0.03559	T	-0.290315	0.45740	T	0.0170148031191375	0.00450	T	0.868313	0.57032	D	0.24724776	0.47701	0.13838111	0.33049	0.24724776	0.47701	0.13838111	0.33048	-2.869	0.10954	T	.	.	0.093	0.22098	B	.;.;.;.;.;.	.;.;.;.;.;.	4.791457	0.77763	26.8	0.99781406498538761	0.86780	0.99253	0.93488	D	AEFGBI	0.771355	0.70602	D	0.626004122209953	0.74824	6.198785	0.615421184322692	0.76060	6.421839	0.999998774180662	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.645665	0.59343	0	.	.	4.87	4.87	0.62877	4.296000	0.58852	11.815000	0.97057	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	16.557	0.84336	386	0.83455	.;.;.;.;.;.	.	.	.	.	.	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	0.008560	0.000000	0.008152	0.005848	0.000000	0.017241	0.003049	0.018939	0.07143	859.49	34	chr14	55640948	.	G	C	859.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.184;DP=264;ExcessHet=0;FS=4.012;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.66;ReadPosRankSum=-1.813;SOR=1.127	GT:AD:DP:GQ:PL	0/1:51,38:89:99:870,0,1348	6	0	1	0
chr14	58096924	58096924	T	C	exonic	ARMH4	.	nonsynonymous SNV	ARMH4:NM_001001872:exon5:c.A1889G:p.D630G	.	398	1116	4	0	4	8	0.00178891	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.172	0.0229555288524	0.0042	0.00219649	0.0042	0.0005	0.0018	0	0.0027	0.0067	0.0033	0.0015	0.0041332	639	154602	rs140057603	0.0044	0.0044	0.0043	0.0045	0.0051	0.0043	0.0043	0.0050	0.0050	0.0007	0.0032	0.0044	0	0.0028	0.0024	0.0051	0.0040	0.0010	0.0044	0.0044	0.0047	0.0040	0.0072	0.0041	0.0040	0.0066	0.0064	0.0008	0	0.0061	0.0049	0.0002	0.0018	0.0034	0.0072	0.0033	0.0008	0.089	0.32141	T	0.096	0.39340	T	0.996	0.68779	D	0.93	0.66466	D	0.150474	0.17985	N	0.536026	0.670763	0.33140	D	.	.	.	-0.48	0.70249	T	-2.76	0.58569	D	0.209	0.23253	-0.0242	0.81752	T	0.349	0.71359	T	10	0.00657025	0.00149	T	0.022956	0.45892	T	0.172	0.43662	.	.	0.648788052915	0.64587	0.017383507307861087	0.01693	0.0403669699203	0.04325	.	.	.	0.037114	0.24357	T	-0.346371	0.04959	T	-0.266589	0.48163	T	0.0197501179951799	0.00677	T	0.607039	0.22875	T	0.28625208	0.51642	0.21350496	0.45863	0.28625208	0.51642	0.21350496	0.45862	-6.723	0.51984	T	.	.	0.121	0.25067	B	.	.	2.590693	0.33606	19.39	0.98130817926870595	0.38514	0.91829	0.54352	D	AEFDGBI	0.537393	0.55521	D	0.480153070071585	0.65932	4.885142	0.454557472389044	0.65010	4.76995	0.999978321097873	0.50053	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.616125	0.45549	0	.	.	4.72	4.72	0.59248	2.626000	0.46126	4.731000	0.44554	0.665000	0.62972	0.986000	0.36153	1.000000	0.68203	0.983000	0.59808	0.0:0.0:0.0:1.0	13.326	0.59895	834	0.38640	.	.	.	.	.	.	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	1270.44	40	chr14	58096924	.	T	C	1270.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.568;DP=324;ExcessHet=0;FS=1.465;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.62;ReadPosRankSum=0.801;SOR=0.853	GT:AD:DP:GQ:PL	0/1:77,55:132:99:1281,0,1738	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	0/1:24,18:42:99:122,0,285	3	0	3	1
chr14	61736998	61736998	T	C	exonic	HIF1A	.	nonsynonymous SNV	HIF1A:NM_001243084:exon9:c.T1210C:p.S404P,HIF1A:NM_001530:exon9:c.T1138C:p.S380P,HIF1A:NM_181054:exon9:c.T1138C:p.S380P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.00625667836105	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.31682	T	0.279	0.24767	T	0.0	0.07471	B	0.002	0.06944	B	0.362402	0.13650	N	0.734063	0.991402	0.42423	D	0.875	0.21512	L	0.65	0.54911	T	-0.57	0.23590	N	0.088	0.06720	-1.0804	0.07272	T	0.057	0.23942	T	10	0.076348245	0.11915	T	0.006257	0.16435	T	0.064	0.18567	0.266	0.21261	0.5079345304	0.50432	0.3332452492065612	0.33237	0.907955905498	0.70923	0.533381700516	0.43511	T	0.353129	0.72046	T	-0.140284	0.29845	T	-0.439285	0.28888	T	0.146519106044101	0.16823	T	0.683732	0.29211	T	0.0709419	0.15668	0.086992964	0.20193	0.0709419	0.15667	0.086992964	0.20192	-2.393	0.06556	T	.	.	0.074	0.04889	B	.;.;.;.;.	.;.;.;.;.	3.309257	0.45468	22.1	0.99147781314612116	0.53709	0.48375	0.28193	N	AEFDGBIJ	0.132537	0.25187	N	-0.527763787653053	0.21187	1.122514	-0.334368158743218	0.26997	1.494998	0.999638679390448	0.41205	0.719381	0.83141	0	0.723133	0.82719	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.85	0.499	0.16119	1.609000	0.36469	2.373000	0.32441	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.3196:0.2265:0.0:0.4539	3.144	0.06078	676	0.60355	.;.;.;.;.	.	.	.	.	.	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	1772.44	35	chr14	61736998	.	T	C	1772.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.121;DP=313;ExcessHet=0;FS=0.648;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.33;ReadPosRankSum=-1.078;SOR=0.588	GT:AD:DP:GQ:PL	0/1:59,74:133:99:1783,0,1330	6	0	1	0
chr14	64158707	64158707	T	C	exonic	SYNE2	.	nonsynonymous SNV	SYNE2:NM_015180:exon86:c.T15875C:p.M5292T,SYNE2:NM_182914:exon86:c.T15875C:p.M5292T	Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	0.00538161103081	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1245310548	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.57e-06	6.566e-06	0	1.345e-05	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.099	0.45039	T	0.026	0.60972	D	0.013	0.16609	B	0.009	0.14300	B	0.041119	0.23984	N	0.401918	0.999988	0.54805	D	1.655	0.42436	L	1.39	0.33842	T	-2.65	0.59710	D	0.474	0.55280	-1.0841	0.06572	T	0.073	0.29675	T	10	0.19718808	0.35641	T	0.005382	0.13801	T	0.143	0.38195	0.536	0.64585	0.319402600006	0.31557	0.3253330187294607	0.32446	0.0539322971594	0.05956	0.529864430428	0.43015	T	0.035396	0.50140	T	-0.123387	0.32572	T	-0.415013	0.31648	T	0.172842237501572	0.18771	T	0.611639	0.23235	T	0.08136348	0.18690	0.15216553	0.35812	0.08136348	0.18690	0.15216553	0.35811	-3.679	0.21014	T	.	.	0.191	0.41000	B	.;.;.;.;.	.;.;.;.;.	1.354212	0.17625	13.27	0.893201424526746	0.18696	0.58238	0.30589	D	AEFGBI	0.052091	0.09265	N	-0.429603788888434	0.24437	1.31946	-0.336983711819935	0.26915	1.489921	0.0805734006329366	0.15850	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.645948	0.59608	0	.	.	5.77	3.35	0.37468	0.797000	0.26660	0.426000	0.18273	0.661000	0.55757	1.000000	0.71638	0.995000	0.32472	1.000000	0.97212	0.0:0.0746:0.1466:0.7788	7.200	0.25051	540	0.73006	.;.;.;.;.	.	.	.	.	.	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	1374.13	79	chr14	64158707	.	T	C	1374.13	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-2.054;DP=715;ExcessHet=4.7409;FS=173.002;MLEAC=5;MLEAF=0.357;MQ=60;MQRankSum=0;QD=3.05;ReadPosRankSum=1.38;SOR=10.021	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:109,37:146:99:.:.:498,0,3023:.	2	0	5	0
chr14	64158708	64158708	G	A	exonic	SYNE2	.	nonsynonymous SNV	SYNE2:NM_015180:exon86:c.G15876A:p.M5292I,SYNE2:NM_182914:exon86:c.G15876A:p.M5292I	Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	2288662	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.077	0.00845025875398	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.45039	D	0.033	0.53072	D	0.325	0.33132	B	0.108	0.31289	B	0.041119	0.23984	N	0.401918	1	0.81001	D	2.35	0.67516	M	1.39	0.33842	T	-1.61	0.43524	N	0.431	0.49965	-1.0717	0.09043	T	0.088	0.33968	T	10	0.25304455	0.42666	T	0.00845	0.22357	T	0.077	0.22490	0.515	0.61459	0.404034981753	0.40020	0.2659272823830213	0.26505	0.0746054716563	0.08373	0.455664932728	0.32718	T	0.114551	0.49765	T	-0.102013	0.36092	T	-0.384311	0.35217	T	0.684482932090759	0.39994	D	0.879912	0.59649	D	0.19624485	0.41445	0.17938405	0.40669	0.19624485	0.41444	0.17938405	0.40668	-3.183	0.12274	T	.	.	0.388	0.58884	A	.;.;.;.;.	.;.;.;.;.	2.504241	0.32334	19.01	0.96935941736678333	0.31676	0.86357	0.45621	D	AEFGBI	0.264582	0.38189	N	-0.124265557851592	0.36337	2.099065	-0.0236316895668092	0.38649	2.280163	0.900501724960891	0.26077	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.645948	0.59608	0	.	.	5.77	4.86	0.62624	4.416000	0.59567	4.462000	0.43463	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.8511:0.1489	14.318	0.66020	540	0.73006	.;.;.;.;.	.	.	.	.	.	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	1271.28	79	chr14	64158708	.	G	A	1271.28	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-4.023;DP=596;ExcessHet=4.7409;FS=185.58;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=2.83;ReadPosRankSum=-0.124;SOR=9.346	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:110,29:144:99:.:.:421,0,3063:.	3	0	4	0
chr14	73569856	73569856	G	A	exonic	ACOT2	.	nonsynonymous SNV	ACOT2:NM_001364178:exon1:c.G616A:p.V206M,ACOT2:NM_006821:exon1:c.G616A:p.V206M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.182	0.0604984607012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.003	0.79402	D	0.991	0.64070	D	0.871	0.61869	P	0.000534	0.43581	D	0.191915	0.94897	0.81001	D	2.49	0.72568	M	0.85	0.47130	T	-1.61	0.38734	N	0.305	0.53708	-0.6073	0.64515	T	0.225	0.58881	T	10	0.26184565	0.43647	T	0.060498	0.68019	D	0.182	0.45420	0.449	0.50957	0.411799315854	0.40795	0.6400651364421701	0.63941	.	.	0.846210122108	0.89041	D	0.025682	0.22294	T	-0.120957	0.32968	T	-0.411523	0.32048	T	0.835512459278107	0.48965	D	0.979102	0.93484	D	0.28042534	0.51090	0.19216102	0.42715	0.28042534	0.51090	0.19216102	0.42714	-8.668	0.65537	D	.	.	0.500	0.64577	A	.;.;.	.;.;.	2.837340	0.37425	20.5	0.9971083659367278	0.81353	0.15443	0.18914	N	ALL	.	.	.	0.163877319324314	0.49471	3.147107	0.00804821866831906	0.40088	2.386897	0.999999999999999	0.74766	0.441713	0.08003	0	0.504199	0.08210	0	0.519653	0.09787	0	0.56214	0.19341	0	.	.	3.31	3.31	0.37025	1.030000	0.29760	0.704000	0.20870	0.352000	0.19979	0.593000	0.27690	0.161000	0.23262	0.004000	0.06068	0.1202:0.1925:0.6873:0.0	6.245	0.20023	234	0.90879	.;.;.	.	.	.	.	.	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	2519.44	40	chr14	73569856	.	G	A	2519.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.732;DP=384;ExcessHet=0;FS=1.846;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.69;ReadPosRankSum=1.25;SOR=0.864	GT:AD:DP:GQ:PL	0/1:79,105:184:99:2530,0,1866	6	0	1	0
chr14	74239929	74239929	C	T	exonic	VSX2	.	nonsynonymous SNV	VSX2:NM_182894:exon1:c.C368T:p.S123L	Microphthalmia with coloboma 3;Microphthalmia, isolated 2	1	1520	1	0	0	1	0.000328839	0.9997	0.94	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.524	0.576045237992	.	.	0.0003	0	0	0	0	0.0001	0.0063	0.0004	5.17e-05	8	154602	rs757242912	4.111e-05	4.515e-05	1.402e-05	6.883e-05	0.0006	3.225e-05	2.949e-05	0.0005	0.0005	0	0	0	0	0	0.0005	0	6.85e-05	0.0006	3.282e-05	3.281e-05	0	6.712e-05	0.0010	1.26e-05	7.97e-06	0.0004	0.0003	0	0	0	0	0	0	0	0	0	0.0010	0.015	0.52492	D	0.013	0.63109	D	0.997	0.70673	D	0.676	0.53321	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.905	0.50856	L	-2.96	0.91956	D	-3.16	0.64246	D	0.166	0.17553	0.404	0.89152	D	0.711	0.90068	D	10	0.2977357	0.47333	T	0.576045	0.96184	D	0.524	0.79825	0.195	0.10705	0.88667497979	0.88555	0.4907909374364553	0.48999	0.326278888782	0.34779	0.829932570457	0.86551	D	0.677826	0.90507	D	-0.127125	0.31961	T	-0.0445378	0.67393	D	0.29497355222702	0.24796	T	0.826617	0.49005	T	0.45428187	0.64312	0.47148636	0.69357	0.45428187	0.64313	0.47148636	0.69358	-8.081	0.61621	D	0.2820838665103733	0.37754	0.329	0.55145	B	.	.	6.110320	0.94584	34	0.99894052144239576	0.96742	0.98123	0.79794	D	AEFDBCI	0.724833	0.67401	D	0.487570306832843	0.66361	4.940457	0.518935772936936	0.69263	5.335811	0.999999999689802	0.74766	0.59774	0.34471	0	0.563428	0.19063	0	0.608004	0.38603	0	0.63947	0.58350	0	.	.	4.65	4.65	0.57626	4.042000	0.57058	7.520000	0.59748	0.598000	0.34611	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	15.472	0.75180	612	0.66786	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1429	812.65	16	chr14	74239929	.	C	T	812.65	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.064;DP=151;ExcessHet=0.3476;FS=5.176;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=12.13;ReadPosRankSum=3.26;SOR=0.275	GT:AD:DP:GQ:PL	0/1:18,16:34:99:327,0,394	5	0	2	0
chr14	74296424	74296424	C	G	exonic	ABCD4	.	nonsynonymous SNV	ABCD4:NM_001353593:exon4:c.G190C:p.E64Q,ABCD4:NM_001353594:exon4:c.G190C:p.E64Q,ABCD4:NM_001353596:exon4:c.G42C:p.W14C,ABCD4:NM_001353597:exon4:c.G42C:p.W14C,ABCD4:NM_001353591:exon5:c.G451C:p.E151Q,ABCD4:NM_001353592:exon5:c.G451C:p.E151Q,ABCD4:NM_001353595:exon5:c.G42C:p.W14C,ABCD4:NM_005050:exon5:c.G451C:p.E151Q,ABCD4:NM_020325:exon5:c.G451C:p.E151Q	Methylmalonic aciduria and homocystinuria, cblJ type, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.323	0.128259757133	.	.	.	.	.	.	.	.	.	.	.	.	.	rs993853239	4.789e-06	4.788e-06	2.723e-06	6.876e-06	2.236e-05	1.99e-06	1.28e-06	1.32e-06	9.6e-07	0	2.236e-05	0	0	0	0	4.496e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.115	0.60972	T	0.664	0.41009	P	0.644	0.52249	P	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	-6.35	0.99666	D	-2.13	0.48354	N	0.761	0.75927	-0.1020	0.80052	T	0.440	0.77852	T	10	0.75892925	0.76196	D	0.12826	0.81018	D	0.838	0.94914	0.542	0.65446	0.995578557779	0.99552	0.8162068577933851	0.81576	0.822786036836	0.67253	0.615917563438	0.55151	T	0.356694	0.87552	T	0.352367	0.86661	D	0.35124	0.90365	D	0.949225306510925	0.63067	D	0.965003	0.92442	D	0.68325126	0.77145	0.2856436	0.54569	0.68325126	0.77146	0.2856436	0.54568	-8.295	0.63062	D	.	.	0.763	0.75811	P	.;.	.;.	5.074539	0.84651	28.4	0.9986789593853731	0.94547	0.99331	0.94604	D	AEFBHCI	0.954715	0.97202	D	0.546790798743714	0.69888	5.421259	0.5730270804419	0.73014	5.901473	1.0	0.98316	0.719381	0.83141	0	0.723133	0.82719	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.82	4.82	0.61641	7.726000	0.83783	7.623000	0.62394	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.0:1.0:0.0:0.0	18.104	0.89444	477	0.77662	ABC transporter type 1, transmembrane domain|ABC transporter type 1, transmembrane domain;ABC transporter type 1, transmembrane 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	269.49	24	chr14	74296424	.	C	G	269.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.301;DP=201;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.7;ReadPosRankSum=0.522;SOR=0.869	GT:AD:DP:GQ:PL	0/1:23,12:35:99:280,0,623	6	0	1	0
chr14	74856817	74856819	TTG	-	exonic	PROX2	.	nonframeshift deletion	PROX2:NM_001080408:exon4:c.909_911del:p.N303del,PROX2:NM_001243007:exon5:c.1590_1592del:p.N530del,PROX2:NM_001384314:exon6:c.1590_1592del:p.N530del	.	9	1511	2	0	0	2	0.000661376	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0001	0	0	0	1.501e-05	0.0022	0.0010	0.0001358	21	154602	rs772990067	8.142e-05	8.14e-05	2.723e-05	0.0001	0.0013	6.936e-05	6.488e-05	0.0011	0.0010	0	0	0	0	0	0.0002	2.698e-06	6.626e-05	0.0013	5.91e-05	5.906e-05	1.285e-05	0.0001	0.0017	3.076e-05	2.209e-05	0.0008	0.0006	2.406e-05	0	0	0	0	0	0	0	0	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.1429	4498.22	34	chr14	74856816	.	CTTG	C	4498.22	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.608;DP=416;ExcessHet=0.3476;FS=2.777;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=17.43;ReadPosRankSum=0.854;SOR=0.542	GT:AD:DP:GQ:PL	0/1:74,71:145:99:2739,0,2884	5	0	2	0
chr14	75071558	75071558	G	A	exonic	ZC2HC1C	.	nonsynonymous SNV	ZC2HC1C:NM_001330191:exon2:c.G985A:p.E329K,ZC2HC1C:NM_024643:exon2:c.G985A:p.E329K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.096	.	0.0038	0.00359425	0.0037	0.0009	0.0064	0	0.0017	0.0051	0.0011	0.0008	0.0036481	564	154602	rs117100576	0.0045	0.0045	0.0047	0.0043	0.0069	0.0044	0.0043	0.0062	0.0060	0.0007	0.0069	0.0018	2.519e-05	0.0021	0.0009	0.0051	0.0047	0.0010	0.0038	0.0038	0.0042	0.0035	0.0058	0.0036	0.0035	0.0053	0.0052	0.0013	0	0.0057	0.0017	0	0.0018	0.0034	0.0058	0.0066	0.0012	0.003	0.68238	D	0.015	0.92824	D	.	.	.	.	.	.	0.001187	0.39899	N	0.166449	0.999244	0.81001	D	1.965	0.53209	M	0.62	0.53302	T	-1.34	0.65972	N	0.511	0.69474	-1.0047	0.28547	T	0.075	0.30272	T	9	0.0050235093	0.00108	T	.	.	.	0.096	0.27654	.	.	0.112648838833	0.10856	0.3052483643247251	0.30437	0.568047790783	0.53036	0.455931127071	0.32754	T	0.021375	0.16659	T	-0.402288	0.02237	T	-0.344944	0.39784	T	0.0168530926675664	0.00438	T	0.748825	0.36981	T	0.09063727	0.21214	0.13139261	0.31552	0.09063727	0.21214	0.13139261	0.31551	-2.808	0.08257	T	.	.	0.239	0.54861	B	.;.	.;.	4.633637	0.73696	26.0	0.99866272659241162	0.94457	0.91136	0.52931	D	AEFDBI	0.372417	0.45807	N	-0.229861592401244	0.31914	1.794364	-0.187765219991681	0.31984	1.815333	0.999998078504067	0.74766	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.664235	0.64389	0	.	.	4.48	3.59	0.40253	2.747000	0.47151	9.773000	0.81562	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.549000	0.30150	0.0797:0.1444:0.7758:0.0	9.400	0.37589	476	0.77720	.;.	.	.	.	.	.	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	0.001359	0.000000	0.000000	0.008621	0.009146	0.000000	0.1429	1502.29	64	chr14	75071558	.	G	A	1502.29	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.801;DP=282;ExcessHet=0.3476;FS=4.155;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=11.13;ReadPosRankSum=1.2;SOR=0.417	GT:AD:DP:GQ:PL	0/1:43,28:71:99:697,0,1129	5	0	2	0
chr14	78297852	78297852	G	A	exonic	NRXN3	.	nonsynonymous SNV	NRXN3:NM_001330195:exon4:c.G749A:p.S250N,NRXN3:NM_001366425:exon4:c.G749A:p.S250N,NRXN3:NM_001366426:exon4:c.G749A:p.S250N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	.	.	.	7.053e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs746873335	3.613e-06	4.788e-06	1.426e-06	5.857e-06	5.049e-05	1.06e-06	7.7e-07	1.679e-05	9.94e-06	0	0	0	0	0	0	0	1.724e-05	5.049e-05	6.574e-06	6.568e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	0.693	0.05863	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.436	0.47487	-0.4570	0.70168	T	0.373	0.73190	T	4	0.2170158	0.38302	T	.	.	.	.	.	.	.	.	.	0.58544048292484	0.58473	.	.	.	.	.	0.003487	0.02889	T	.	.	.	.	.	.	.	.	.	0.762324	0.62461	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	0.40618	B	.;.	.;.	3.614068	0.51109	23.0	0.90763606675286401	0.20013	0.96897	0.71537	D	AEFBI	0.600580	0.59316	D	0.471952315503581	0.65458	4.825172	0.577232011699918	0.73311	5.949721	0.999999782056204	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.657636	0.52715	0	0.564101	0.26826	0	.	.	6.02	6.02	0.97559	5.916000	0.69712	7.632000	0.62779	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	17.697	0.88190	743	0.52768	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.3333	179.76	98	chr14	78297852	.	G	A	179.76	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-3.871;DP=784;ExcessHet=3.1439;FS=249.645;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=0.31;ReadPosRankSum=0.689;SOR=10.919	GT:AD:DP:GQ:PL	0/1:121,52:185:56:56,0,1838	2	0	4	1
chr14	91273331	91273331	G	C	exonic	CCDC88C	.	nonsynonymous SNV	CCDC88C:NM_001080414:exon30:c.C5381G:p.P1794R	Hydrocephalus, nonsyndromic, autosomal recessive, Autosomal recessive	0	1509	13	0	0	13	0.00428901	.	.	.	739374	CCDC88C-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.096	.	8.4e-05	0.00159744	0.0042	0	0.0053	0	0	0.0013	0	0.0121	0.0008797	136	154602	rs200077683	0.0005	0.0005	0.0004	0.0007	0.0059	0.0005	0.0005	0.0055	0.0053	3.141e-05	0.0012	0.0006	2.678e-05	0	0.0011	0.0001	0.0009	0.0059	0.0007	0.0007	0.0006	0.0009	0.0054	0.0006	0.0006	0.0038	0.0032	4.808e-05	0	0.0039	0.0009	0	0	0.0034	0.0001	0.0033	0.0054	0.527	0.07093	T	0.491	0.11515	T	0.528	0.37661	P	0.277	0.40197	B	0.043659	0.23718	U	0.300464	1	0.08975	N	2.44	0.70756	M	2.52	0.14160	T	-1.88	0.43906	N	0.209	0.23253	-0.9611	0.38974	T	0.149	0.47610	T	10	0.004674226	0.00098	T	.	.	.	0.096	0.27654	.	.	0.501874446873	0.49824	0.20276624002257568	0.20193	0.30571589573	0.32879	0.423363089561	0.28300	T	0.029139	0.20950	T	-0.594125	0.00158	T	-0.622331	0.11003	T	0.0244717706613991	0.01205	T	0.735226	0.35154	T	0.04033894	0.05739	0.07398957	0.16137	0.042450864	0.06440	0.04998176	0.07749	-5.201	0.38952	T	.	.	0.143	0.31381	B	.	.	1.814704	0.23060	15.87	0.90902478556864141	0.20151	0.75200	0.36809	D	AEFDBCI	0.267172	0.38393	N	-0.0153756271211116	0.41160	2.457021	-0.119785351367804	0.34593	1.991618	0.997731176467018	0.35965	0.631515	0.41029	0	0.697927	0.68747	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	5.14	4.24	0.49486	2.164000	0.42013	5.678000	0.49283	0.618000	0.50648	0.024000	0.20007	0.996000	0.32793	0.450000	0.27895	0.1905:0.0:0.8095:0.0	8.604	0.32924	917	0.20147	.	.	.	.	.	.	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	0.001515	0.000000	0.000000	0.000000	0.000000	0.000000	0.009146	0.000000	0.08333	763.27	31	chr14	91273331	.	G	C	763.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.83;DP=223;ExcessHet=0;FS=2.418;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.88;ReadPosRankSum=-1.213;SOR=0.4	GT:AD:DP:GQ:PL	0/1:28,27:55:99:773,0,825	5	0	1	1
chr14	94497802	94497802	C	T	exonic	SERPINA12	.	nonsynonymous SNV	SERPINA12:NM_001304461:exon2:c.G596A:p.G199D,SERPINA12:NM_001382267:exon2:c.G596A:p.G199D,SERPINA12:NM_173850:exon3:c.G596A:p.G199D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.0188046605053	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1455963195	6.871e-07	2.052e-06	0	1.382e-06	2.524e-05	0	0	.	.	0	0	0	2.524e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.463	0.08660	T	0.657	0.06576	T	0.011	0.15914	B	0.017	0.18140	B	0.251813	0.15493	N	0.613802	1	0.08975	N	0.66	0.16226	N	-2.05	0.85799	D	-1.46	0.35792	N	0.148	0.15046	-0.8956	0.48427	T	0.266	0.63727	T	10	0.040331542	0.02593	T	0.018805	0.40992	T	0.133	0.36157	0.432	0.48171	0.216624796971	0.21254	0.6112549893490689	0.61057	0.100516046514	0.11355	0.37503361702	0.21551	T	0.03395	0.23124	T	-0.223248	0.17552	T	-0.389328	0.34630	T	0.0576949219063508	0.06800	T	0.584142	0.21248	T	0.26295173	0.49358	0.10561278	0.25391	0.26295173	0.49358	0.10561278	0.25390	-1.722	0.02287	T	.	.	0.224	0.49509	B	.;.	.;.	2.009921	0.25536	16.80	0.080949235166052638	0.00057	0.07238	0.13262	N	AEFCI	0.065923	0.12884	N	-0.924847551878464	0.10263	0.4896058	-0.843139383567271	0.13453	0.6979405	0.0132140536699464	0.12433	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.49	2.69	0.30923	-0.172000	0.09858	0.548000	0.19395	0.599000	0.40250	0.000000	0.06391	0.008000	0.19753	0.813000	0.38311	0.1769:0.4335:0.0:0.3895	3.621	0.07640	793	0.45818	Serpin domain|Serpin domain;Serpin domain|Serpin 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	1661.77	55	chr14	94497802	.	C	T	1661.77	.	AC=4;AF=0.4;AN=10;BaseQRankSum=-0.85;DP=480;ExcessHet=3.1439;FS=488.847;MLEAC=5;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.4;ReadPosRankSum=0.495;SOR=10.1	GT:AD:DP:GQ:PL	0/1:67,36:103:99:412,0,1055	1	0	4	2
chr14	96289720	96289720	C	T	exonic	ATG2B	.	nonsynonymous SNV	ATG2B:NM_018036:exon41:c.G5942A:p.R1981Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.00768285512875	.	.	2.471e-05	0	0	0	0	0	0	0.0002	3.84e-05	1	26028	rs760382963	1.779e-05	1.779e-05	9.529e-06	2.613e-05	0.0003	1.237e-05	1.051e-05	0.0002	0.0001	0	2.236e-05	0	0	0	0	2.698e-06	0	0.0003	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	0.012	0.54683	D	0.031	0.53788	D	0.904	0.49848	P	0.549	0.49194	P	0.000001	0.62929	D	0.058207	0.999919	0.51042	D	2.32	0.66415	M	2.78	0.11298	T	-2.36	0.52128	N	0.466	0.50237	-1.1634	0.00677	T	0.049	0.20868	T	10	0.3277815	0.50056	T	0.007683	0.20378	T	0.158	0.41098	0.592	0.72123	0.55744451731	0.55404	0.6947291200339274	0.69413	0.720835370615	0.62198	0.382140427828	0.22559	T	0.008886	0.08127	T	-0.0958087	0.37118	T	-0.375399	0.36260	T	0.386232823133469	0.28421	T	0.962304	0.85835	D	0.31683275	0.54371	0.21575412	0.46177	0.31683275	0.54371	0.21575412	0.46176	-4.733	0.33801	T	.	.	0.081	0.08465	B	.	.	4.959748	0.81993	27.7	0.99948834380383478	0.99931	0.93531	0.58471	D	AEFDBCI	0.604974	0.59587	D	0.583152405833493	0.72125	5.756521	0.596901519776314	0.74718	6.184755	0.999999666964885	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.4	4.5	0.54382	5.842000	0.69133	5.895000	0.50812	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.916000	0.45140	0.0:0.9265:0.0:0.0735	13.886	0.63210	976	0.04745	Autophagy-related, 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	765.49	33	chr14	96289720	.	C	T	765.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.032;DP=264;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.41;ReadPosRankSum=0.529;SOR=0.779	GT:AD:DP:GQ:PL	0/1:54,37:91:99:776,0,1235	6	0	1	0
chr14	96328709	96328709	G	C	exonic	ATG2B	.	nonsynonymous SNV	ATG2B:NM_018036:exon13:c.C1939G:p.L647V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.190	0.0210505278955	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.32141	T	0.126	0.35205	T	0.997	0.70673	D	0.991	0.79672	D	0.000024	0.55875	U	0.000000	0.99996	0.52935	D	1.84	0.48285	L	2.88	0.10291	T	-1.24	0.31375	N	0.642	0.65416	-1.1675	0.00589	T	0.084	0.32814	T	10	0.61223567	0.67508	D	0.021051	0.43757	T	0.190	0.46781	0.198	0.11110	0.586816528483	0.58355	0.3201478662071291	0.31927	0.652725768522	0.58449	0.597697973251	0.52579	T	0.005137	0.04581	T	-0.0899762	0.38080	T	-0.367021	0.37237	T	0.884093582630157	0.53431	D	0.913309	0.69109	D	0.17750946	0.38721	0.15349935	0.36067	0.17750946	0.38720	0.15349935	0.36066	-4.522	0.31175	T	.	.	0.095	0.14888	B	.	.	5.100309	0.85214	28.5	0.99806771792025484	0.89085	0.98731	0.86131	D	AEFBI	0.733095	0.67964	D	0.75656352154125	0.83333	7.989826	0.766028455875063	0.87348	9.19159	0.999996270545633	0.74766	0.651	0.46895	0	0.601575	0.49859	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.84	5.84	0.93373	7.339000	0.78520	11.847000	0.97966	0.614000	0.49286	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	20.147	0.98079	966	0.07191	.	.	.	.	.	.	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	41.18	18	chr14	96328709	.	G	C	41.18	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-0.27;DP=124;ExcessHet=0;FS=45.319;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=1.87;ReadPosRankSum=1.79;SOR=5.548	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:17,5:23:50:.:.:50,0,393:.	4	0	1	2
chr14	96328715	96328715	G	A	exonic	ATG2B	.	nonsynonymous SNV	ATG2B:NM_018036:exon13:c.C1933T:p.L645F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.00886626903136	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.293	0.14843	T	0.342	0.17910	T	0.986	0.61523	D	0.655	0.52639	P	0.000461	0.44317	U	0.093440	0.999826	0.49512	D	2.045	0.56016	M	2.77	0.11407	T	-0.83	0.22727	N	0.713	0.71587	-1.1906	0.00235	T	0.048	0.20434	T	10	0.7158303	0.73340	D	0.008866	0.23390	T	0.101	0.28911	0.261	0.20473	0.649875675476	0.64696	0.4360382408406853	0.43520	0.714222314845	0.61872	0.581186294556	0.50252	T	0.001087	0.00603	T	0.00244457	0.51991	T	-0.234265	0.51358	T	0.895890891551971	0.54752	D	0.90391	0.66280	D	0.124084935	0.29122	0.11591009	0.27982	0.124084935	0.29121	0.11591009	0.27982	-4.983	0.36655	T	.	.	0.122	0.25592	B	.	.	5.086143	0.84911	28.4	0.99872796088211291	0.94989	0.97351	0.74201	D	AEFBI	0.585571	0.58394	D	0.613794296568722	0.74046	6.066685	0.657745283479078	0.79189	7.030037	0.999992539104278	0.74766	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	5.885000	0.69480	11.847000	0.97966	0.614000	0.49286	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.857:0.143	14.927	0.70531	966	0.07191	.	.	.	.	.	.	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	67.17	19	chr14	96328715	.	G	A	67.17	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-1.015;DP=120;ExcessHet=0;FS=32.164;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=2.92;ReadPosRankSum=1.83;SOR=4.975	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:18,5:24:76:.:.:76,0,375:.	4	0	1	2
chr14	100149354	100149354	G	T	exonic	DEGS2	.	nonsynonymous SNV	DEGS2:NM_206918:exon2:c.C439A:p.R147S	.	416	1092	14	0	0	14	0.00636943	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	.	0.0015	0.00139776	0.0035	0.0007	0.0007	0.0001	0.0035	0.0032	0.0012	0.0108	0.0029689	459	154602	rs149922542	0.0032	0.0032	0.0030	0.0033	0.0094	0.0031	0.0031	0.0088	0.0086	0.0005	0.0007	3.866e-05	7.571e-05	0.0035	0.0042	0.0031	0.0020	0.0094	0.0023	0.0023	0.0023	0.0023	0.0070	0.0021	0.0020	0.0052	0.0045	0.0008	0	0.0007	0	0	0.0042	0.0068	0.0033	0.0014	0.0070	0.601	0.05618	T	0.684	0.06033	T	0.028	0.19712	B	0.044	0.24394	B	0.063626	0.22011	N	0.492658	1	0.81001	D	0.805	0.20218	L	2.27	0.17431	T	0.48	0.03041	N	0.235	0.26475	-0.9852	0.33784	T	0.018	0.07282	T	10	0.009126782	0.00206	T	.	.	.	0.044	0.11924	.	.	0.180583059064	0.17676	0.711420743028283	0.71084	0.893006755115	0.70303	0.264480620623	0.05436	T	0.127949	0.45530	T	-0.567297	0.00230	T	-0.580695	0.14482	T	0.00168552342132505	0.00017	T	0.385961	0.09480	T	0.11166096	0.26385	0.075003214	0.16467	0.11166096	0.26384	0.075003214	0.16466	-3.394	0.14976	T	.	.	0.104	0.19032	B	.	.	1.288313	0.16887	12.83	0.88631730197718617	0.18130	0.71993	0.35256	D	AEFDBCI	0.273100	0.38858	N	-0.832250209454433	0.12491	0.609186	-0.794684648192078	0.14626	0.7651443	0.999985765568072	0.51787	0.580535	0.33130	0	0.550933	0.16991	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	4.4	-2.33	0.06340	1.748000	0.37935	0.859000	0.22211	0.676000	0.76740	0.823000	0.30032	0.000000	0.08366	0.893000	0.43066	0.1897:0.4776:0.2288:0.1038	3.584	0.07513	964	0.07719	Fatty acid desaturase 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	0.003024	0.000000	0.001362	0.000000	0.000000	0.000000	0.009202	0.007576	0.07143	1823.44	34	chr14	100149354	.	G	T	1823.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.749;DP=551;ExcessHet=0;FS=1.384;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.92;ReadPosRankSum=0.558;SOR=0.551	GT:AD:DP:GQ:PL	0/1:63,68:131:99:1834,0,1606	6	0	1	0
chr14	104946366	104946366	C	G	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.G8785C:p.E2929Q,AHNAK2:NM_138420:exon7:c.G9085C:p.E3029Q	.	433	1083	6	0	0	6	0.00276243	.	.	.	390167	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.022	.	.	0.0161741	0.0062	0.0009	0.0011	0.0528	0	0.0003	0.0022	0.0152	0.0057891	895	154602	rs192951700	0.0023	0.0024	0.0020	0.0026	0.0311	0.0022	0.0022	0.0297	0.0291	0.0004	0.0009	0.0020	0.0311	0	0.0026	8.733e-05	0.0083	0.0161	0.0035	0.0040	0.0028	0.0041	0.0619	0.0032	0.0031	0.0561	0.0539	0.0007	0	0.0015	0.0029	0.0619	0	0	0.0002	0.0059	0.0281	0.671	0.04548	T	0.534	0.09965	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	-0.835	0.01514	N	6.02	0.00599	T	0.41	0.03407	N	0.132	0.12770	-0.9643	0.38350	T	0.000	0.00152	T	9	0.0035173297	0.00063	T	.	.	.	0.022	0.04323	.	.	0.0138822411134	0.00435	0.008642811397447946	0.00828	.	.	0.200078368187	0.00459	T	0.020	0.16069	T	-0.780172	0.00011	T	-0.847878	0.00987	T	0.000893557040401497	0.00008	T	0.316168	0.06277	T	0.023484753	0.01092	0.024533859	0.00474	0.023484753	0.01092	0.024533859	0.00474	-0.986	0.00984	T	.	.	0.062	0.01328	B	.	.	-1.712554	0.00190	0.003	0.1077389432472611	0.00145	0.00615	0.02724	N	AEFBI	.	.	.	-1.45976311396001	0.02141	0.09422169	-1.46092582869545	0.02673	0.1233625	1.05395675737298E-4	0.05123	0.706548	0.73137	0	0.588066	0.40923	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	4.24	-0.247	0.12376	-4.227000	0.00308	.	.	-1.992000	0.00454	0.000000	0.06391	.	.	0.000000	0.00833	0.0791:0.3162:0.4257:0.179	5.097	0.14072	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	.	.	.	.	.	.	.	.	0.07143	5590.44	78	chr14	104946366	.	C	G	5590.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.93;DP=1023;ExcessHet=0;FS=2.732;MLEAC=1;MLEAF=0.071;MQ=59.6;MQRankSum=0.581;QD=14.56;ReadPosRankSum=1.08;SOR=0.841	GT:AD:DP:GQ:PL	0/1:178,206:384:99:5601,0,4494	6	0	1	0
chr14	105497363	105497363	C	T	exonic	TEDC1	.	nonsynonymous SNV	TEDC1:NM_001134876:exon5:c.C592T:p.R198W,TEDC1:NM_001134875:exon6:c.C691T:p.R231W,TEDC1:NM_001134877:exon6:c.C469T:p.R157W,TEDC1:NM_001198983:exon6:c.C475T:p.R159W,TEDC1:NM_001367178:exon7:c.C898T:p.R300W	.	416	1091	15	0	0	15	0.00682749	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	.	0.0006	0.0141773	0.0052	0.0007	0.0121	0.0772	0.0263	0.0009	0	0.0047	0.0043014	665	154602	rs80142487	0.0055	0.0056	0.0055	0.0054	0.1476	0.0054	0.0053	0.1443	0.1430	0.0003	0.0227	0.0031	0.1476	0.0053	0.0018	0.0005	0.0043	0.0042	0.0054	0.0054	0.0045	0.0063	0.0896	0.0051	0.0050	0.0829	0.0802	0.0008	0	0.0107	0.0020	0.0896	0.0054	0.0034	0.0008	0.0033	0.0062	0.004	0.72154	D	0.003	0.79402	D	0.999	0.77913	D	0.736	0.55529	P	0.134467	0.02835	N	1.793690	0.999999	0.08975	N	.	.	.	.	.	.	-3.32	0.66780	D	0.138	0.20528	-1.0690	0.09634	T	0.012	0.04510	T	9	0.0025885701	0.00039	T	.	.	.	0.049	0.13647	.	.	.	.	0.17861436567323985	0.17780	0.0171929848995	0.01662	.	.	.	0.054761	0.29816	T	-0.552289	0.00283	T	-0.422281	0.30813	T	0.0386319964435289	0.03444	T	0.754025	0.51702	T	0.11068395	0.26160	0.08612136	0.19930	0.11068395	0.26160	0.08612136	0.19929	-5.247	0.48317	T	.	.	0.098	0.27998	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	2.049322	0.26049	16.98	0.99702014466185307	0.80729	0.10774	0.16183	N	AEFDBCI	0.118953	0.23238	N	-0.653183646966685	0.17368	0.893091	-0.853410394422318	0.13206	0.6837947	0.999940903294201	0.47345	0.660377	0.49826	0	0.694456	0.67091	0	0.723109	0.80598	0	0.699875	0.68795	0	.	.	3.87	-0.0707	0.13079	-0.852000	0.04416	-0.221000	0.10763	-0.242000	0.07441	0.000000	0.06391	0.000000	0.08366	0.025000	0.12405	0.0:0.5357:0.0:0.4643	6.252	0.20062	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	0	0	0.006336	0.000000	0.005587	0.000000	0.055556	0.000000	0.022436	0.012097	0.07143	1096.46	36	chr14	105497363	.	C	T	1096.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.38;DP=280;ExcessHet=0;FS=1.637;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.19;ReadPosRankSum=0.896;SOR=0.571	GT:AD:DP:GQ:PL	0/1:51,47:98:99:1107,0,1107	6	0	1	0
chr15	20534613	20534613	C	0	exonic	GOLGA6L6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	163.49	42	chr15	20534613	.	C	*	163.49	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.638;DP=448;ExcessHet=2.5225;FS=4.11;MLEAC=2;MLEAF=0.143;MQ=54.45;MQRankSum=-1.189;QD=0.49;ReadPosRankSum=0.744;SOR=0.929	GT:AD:DP:GQ:PL	0/1:26,40:77:99:1352,0,1043	5	0	2	0
chr15	20534634	20534718	CTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCCCTTATCTTCTCCTCCTGCTTCCACATCTTCTCCTCCTGCTCCTGCCTCTTT	0	exonic	GOLGA6L6	.	.	.	.	495	631	268	4	124	400	0.179454	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	1235.69	42	chr15	20534634	.	CTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCCCTTATCTTCTCCTCCTGCTTCCACATCTTCTCCTCCTGCTCCTGCCTCTTT	*	1235.69	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.33;DP=401;ExcessHet=0.4813;FS=4.038;MLEAC=2;MLEAF=0.143;MQ=51.78;MQRankSum=1.12;QD=5.75;ReadPosRankSum=0.373;SOR=0.985	GT:AD:DP:GQ:PL	0/1:0,40:56:99:2087,669,1271	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	0/1:415,61:476:99:530,0,11198	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	0/1:76,12:88:99:.:.:276,0,3044:.	2	0	5	0
chr15	23364974	23364974	G	C	exonic	GOLGA8H;GOLGA8S	.	nonsynonymous SNV	GOLGA8S:NM_001355465:exon18:c.G1079C:p.S360T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0019451411278	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1310592451	3.776e-05	5.768e-05	4.875e-05	2.669e-05	0.0001	2.958e-05	2.65e-05	4.385e-05	2.784e-05	6.121e-05	0.0001	0	0	0	0	3.819e-05	5.037e-05	2.343e-05	0.0001	0.0003	0.0001	0.0001	0.0002	7.565e-05	6.234e-05	0.0001	7.743e-05	0.0002	0	0	0	0	0	0	0.0001	0	0	0.063	0.36709	T	0.02	0.58613	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.83	0.24841	T	-2.12	0.48184	N	0.139	0.13769	.	.	.	.	.	.	.	0.2233805	0.39115	T	0.001945	0.03456	T	.	.	.	.	0.69690782451	0.69429	0.1385338662650225	0.13776	1.51099141099	0.87238	.	.	.	.	.	.	-0.511124	0.00495	T	-0.702671	0.05681	T	.	.	.	0.457154	0.13128	T	0.056688678	0.11188	0.07480963	0.16403	0.056688678	0.11187	0.07480963	0.16402	-3.985	0.23578	T	.	.	0.101	0.17530	B	.	.	1.942006	0.24664	16.48	0.54458434983681248	0.05142	0.15751	0.19064	N	AEFI	0.034544	0.04297	N	.	.	.	.	.	.	1.18251137249003E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	0.829	0.829	0.17984	0.623000	0.24141	0.680000	0.20673	-0.610000	0.04588	0.994000	0.38300	0.998000	0.33993	0.001000	0.02609	0.0:0.0:1.0:0.0	5.153	0.14350	988	0.01987	.	.	.	.	.	.	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	662.46	20	chr15	23364974	.	G	C	662.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.502;DP=217;ExcessHet=0;FS=1.011;MLEAC=1;MLEAF=0.071;MQ=33.94;MQRankSum=0.189;QD=10.52;ReadPosRankSum=0.374;SOR=0.909	GT:AD:DP:GQ:PL	0/1:35,28:63:99:673,0,863	6	0	1	0
chr15	23440328	23440328	C	0	exonic	GOLGA6L2	.	.	.	.	950	317	163	50	42	305	0.2932	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.375	43.73	36	chr15	23440328	.	C	*	43.73	.	AC=3;AF=0.375;AN=8;BaseQRankSum=-0.126;DP=394;ExcessHet=4.1913;FS=16.583;MLEAC=4;MLEAF=0.5;MQ=54.16;MQRankSum=0.126;QD=0.32;ReadPosRankSum=0;SOR=3.018	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:45,7:52:99:0|1:23440319_CT_C:159,0,1762:23440319	1	0	3	3
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	1/0:1,78:150:99:5300,2135,2773	0	0	6	1
chr15	31063227	31063227	C	T	exonic	TRPM1	.	nonsynonymous SNV	TRPM1:NM_001252020:exon7:c.G907A:p.V303I,TRPM1:NM_002420:exon7:c.G790A:p.V264I,TRPM1:NM_001252024:exon8:c.G856A:p.V286I	Night blindness, congenital stationary (complete), 1C, autosomal recessive	.	.	.	.	.	.	.	.	.	.	842127	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.143	0.0220153325958	.	.	2.488e-05	0.0001	0.0002	0	0	0	0	0	1.94e-05	3	154602	rs199544597	1.642e-05	1.642e-05	1.089e-05	2.2e-05	0.0002	1.111e-05	9.33e-06	4.358e-05	2.767e-05	8.961e-05	0.0001	0	2.519e-05	0	0.0002	5.396e-06	1.656e-05	8.115e-05	2.628e-05	2.627e-05	3.853e-05	1.345e-05	9.649e-05	8.14e-06	5.14e-06	3.249e-05	1.914e-05	9.649e-05	0	0	0	0	0	0	0	0	0	0.022	0.49117	D	0.05	0.48336	T	0.902	0.49745	P	0.256	0.39259	B	0.000007	0.62929	D	0.107611	0.999996	0.58761	D	1.2	0.30300	L	1.3	0.35590	T	-0.93	0.24898	N	0.44	0.47857	-1.0634	0.10926	T	0.134	0.44681	T	10	0.20537493	0.36762	T	0.022015	0.44863	T	0.143	0.38195	.	.	0.493295820912	0.48965	0.4967493473149361	0.49595	0.423858220135	0.42831	0.429023265839	0.29075	T	0.15541	0.49713	T	-0.265254	0.12291	T	-0.36375	0.37617	T	0.241857503244113	0.22505	T	0.762324	0.75597	T	0.17088693	0.37690	0.1473473	0.34874	0.17088693	0.37689	0.1473473	0.34873	-7.842	0.59988	D	0.2490994307617811	0.33725	0.125	0.26294	B	.;.;.;.;.	.;.;.;.;.	4.363318	0.67110	25.1	0.99867916390192724	0.94547	0.98457	0.82976	D	AEFDBI	0.846663	0.76354	D	0.403027991091231	0.61590	4.362041	0.484043530405779	0.66932	5.016883	1.0	0.98316	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.651492	0.60203	0	.	.	5.67	5.67	0.87673	6.153000	0.71612	4.801000	0.44969	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	19.785	0.96428	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	1975.44	38	chr15	31063227	.	C	T	1975.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.769;DP=349;ExcessHet=0;FS=2.94;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.74;ReadPosRankSum=-0.747;SOR=0.464	GT:AD:DP:GQ:PL	0/1:71,84:155:99:1986,0,1625	6	0	1	0
chr15	33066576	33066576	A	G	exonic	FMN1	.	nonsynonymous SNV	FMN1:NM_001103184:exon1:c.T1309C:p.S437P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.0439174776103	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.269e-06	0.0003	8.328e-06	4.195e-06	3.048e-05	2.95e-06	2.14e-06	3.16e-06	2.28e-06	3.048e-05	0	0	0	0	0	7.335e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.149	0.63918	T	0.999	0.90584	D	0.961	0.73157	D	0.013889	0.28700	N	0.367334	.	.	.	.	.	.	0.86	0.52416	T	-1.05	0.30140	N	0.667	0.67564	-0.3122	0.74643	T	0.279	0.65058	T	8	0.56316704	0.64902	D	0.043917	0.61227	D	0.118	0.32913	0.237	0.16760	0.692833615445	0.69019	.	.	0.0243119155432	0.02469	.	.	.	.	.	.	0.065645	0.60314	T	-0.143482	0.59815	T	0.97686767578125	0.71575	D	.	.	.	.	.	.	.	.	.	.	.	-11.775	0.83737	D	.	.	0.768	0.82694	P	.;.	.;.	1.889637	0.24000	16.23	0.99337903151617613	0.60051	0.70445	0.34593	D	AEFBCI	0.339556	0.43666	N	0.607978743589503	0.73679	6.005621	0.621611519535191	0.76513	6.504682	0.999997974355125	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.96	5.96	0.96695	2.674000	0.46532	7.052000	0.57375	0.756000	0.94297	0.994000	0.38300	1.000000	0.68203	0.859000	0.40722	0.8664:0.0:0.0:0.1336	11.519	0.49792	718	0.55760	.;.	.	.	.	.	.	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	1421.39	77	chr15	33066576	.	A	G	1421.39	.	AC=4;AF=0.333;AN=12;BaseQRankSum=1.25;DP=407;ExcessHet=3.1439;FS=230.13;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=4.47;ReadPosRankSum=1.48;SOR=6.9	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:74,27:103:99:.:.:909,0,2883:.	2	0	4	1
chr15	33066577	33066577	C	G	exonic	FMN1	.	nonsynonymous SNV	FMN1:NM_001103184:exon1:c.G1308C:p.E436D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.121	0.0297600126912	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.862e-07	0.0001	0	1.379e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.662e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.31834	T	0.298	0.32355	T	0.859	0.61523	P	0.569	0.58136	P	0.000805	0.41658	D	0.269242	.	.	.	.	.	.	0.34	0.59717	T	-1.06	0.27669	N	0.523	0.55280	-0.6555	0.62473	T	0.195	0.54913	T	8	0.3596483	0.52628	T	0.02976	0.52206	D	0.121	0.33580	0.179	0.08626	0.723881056707	0.72144	.	.	0.0215900956345	0.02143	.	.	.	.	.	.	-0.156676	0.27274	T	-0.46283	0.26291	T	0.960661649703979	0.65867	D	.	.	.	.	.	.	.	.	.	.	.	-8.241	0.62700	D	.	.	0.231	0.54353	B	.;.	.;.	0.926501	0.13016	9.521	0.9948329941711106	0.67014	0.72494	0.35481	D	AEFBCI	0.313711	0.41879	N	0.240855582260182	0.53189	3.48888	0.245955025105221	0.52420	3.416909	0.999871332870031	0.44625	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.96	3.06	0.34374	0.207000	0.17194	0.009000	0.13411	0.599000	0.40250	0.983000	0.35670	0.800000	0.26941	0.903000	0.43903	0.1331:0.5968:0.0:0.2702	5.341	0.15286	718	0.55760	.;.	.	.	.	.	.	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	791.31	77	chr15	33066577	.	C	G	791.31	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-0.61;DP=397;ExcessHet=3.1439;FS=238.759;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=2.58;ReadPosRankSum=1.41;SOR=8.222	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:74,17:101:99:.:.:755,0,2888:.	2	0	4	1
chr15	33066579	33066579	C	T	exonic	FMN1	.	nonsynonymous SNV	FMN1:NM_001103184:exon1:c.G1306A:p.E436K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.219	0.0640291295364	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.172	0.63918	T	0.999	0.90584	D	0.984	0.76113	D	0.000805	0.41658	D	0.269242	.	.	.	.	.	.	0.21	0.61798	T	-1.7	0.49684	N	0.735	0.73826	-0.3008	0.74963	T	0.421	0.76630	T	8	0.7212701	0.73678	D	0.064029	0.69152	D	0.219	0.51417	0.231	0.15855	0.748136256137	0.74586	.	.	0.0231449100248	0.02349	.	.	.	.	.	.	0.142383	0.68551	D	-0.0332535	0.68153	D	0.952831566333771	0.63885	D	.	.	.	.	.	.	.	.	.	.	.	-12.099	0.85330	D	.	.	0.586	0.71819	P	.;.	.;.	2.594882	0.33671	19.41	0.99883603428231948	0.95892	0.93420	0.58169	D	AEFBCI	0.825608	0.74527	D	0.777670272844729	0.84690	8.359056	0.801274126872763	0.89881	10.16146	0.99999999999998	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.96	5.96	0.96695	6.672000	0.74315	7.690000	0.65738	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.947000	0.49155	0.0:1.0:0.0:0.0	20.422	0.99051	718	0.55760	.;.	.	.	.	.	.	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	448.01	77	chr15	33066579	.	C	T	448.01	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-3.34;DP=411;ExcessHet=1.1394;FS=190.15;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=1.87;ReadPosRankSum=0.475;SOR=7.824	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:74,17:101:99:.:.:755,0,2888:.	4	0	2	1
chr15	33066580	33066580	C	G	exonic	FMN1	.	nonsynonymous SNV	FMN1:NM_001103184:exon1:c.G1305C:p.K435N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.261	0.097882166908	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.37e-06	3.42e-06	0	2.755e-06	2.52e-05	2.3e-07	9e-08	.	.	0	0	0	2.52e-05	0	0	8.999e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.154	0.70582	T	1.0	0.90584	D	0.999	0.97372	D	0.000001	0.62929	D	0.096983	.	.	.	.	.	.	-0.38	0.72458	T	-2.13	0.59389	N	0.608	0.62526	0.078	0.83767	D	0.453	0.78650	T	8	0.56676614	0.65094	D	0.097882	0.76848	D	0.261	0.57352	0.305	0.27485	0.831138789675	0.82953	.	.	0.0235372491196	0.02386	.	.	.	.	.	.	-0.0593099	0.43016	T	-0.322971	0.42248	T	0.990393579006195	0.80614	D	.	.	.	.	.	.	.	.	.	.	.	-10.821	0.78667	D	.	.	0.891	0.85423	P	.;.	.;.	1.014109	0.13930	10.49	0.99542673395090209	0.70586	0.65955	0.32912	D	AEFBCI	0.401493	0.47596	N	0.357394877581215	0.59132	4.09007	0.32151679407882	0.56807	3.84457	0.999972656303353	0.50053	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.96	4.1	0.47196	-0.266000	0.08660	-0.170000	0.11235	0.599000	0.40250	0.526000	0.27158	0.290000	0.24159	0.957000	0.51019	0.0:0.7827:0.0:0.2173	10.418	0.43521	718	0.55760	.;.	.	.	.	.	.	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	521.25	77	chr15	33066580	.	C	G	521.25	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-1.941;DP=411;ExcessHet=1.1394;FS=179.184;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=2.28;ReadPosRankSum=0.486;SOR=7.7	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:74,16:98:99:.:.:777,0,3013:.	3	0	3	1
chr15	33066583	33066583	C	G	exonic	FMN1	.	nonsynonymous SNV	FMN1:NM_001103184:exon1:c.G1302C:p.E434D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	0.0174432321193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.234	0.18061	T	0.252	0.29056	T	0.724	0.62824	P	0.292	0.58300	B	0.000000	0.84330	D	0.049723	.	.	.	.	.	.	1.03	0.48142	T	-0.87	0.23590	N	0.263	0.29774	-0.6821	0.61275	T	0.170	0.51052	T	8	0.18176183	0.33423	T	0.017443	0.39139	T	0.205	0.49236	0.196	0.10839	0.633120732306	0.63011	.	.	0.0215900956345	0.02143	.	.	.	.	.	.	-0.101551	0.36169	T	-0.383648	0.35295	T	0.987011551856995	0.77596	D	.	.	.	.	.	.	.	.	.	.	.	-7.933	0.60613	D	.	.	0.457	0.69267	A	.;.	.;.	1.631232	0.20829	14.93	0.99234608538238822	0.56342	0.62108	0.31682	D	AEFBCI	0.207444	0.33361	N	0.193011064254835	0.50863	3.272384	0.226642513300989	0.51332	3.316546	0.999944989826091	0.47345	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.96	4.1	0.47196	0.147000	0.16021	1.800000	0.28874	0.599000	0.40250	0.988000	0.36536	1.000000	0.68203	0.964000	0.52637	0.0:0.7464:0.0:0.2536	10.665	0.44923	718	0.55760	.;.	.	.	.	.	.	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	987.91	75	chr15	33066583	.	C	G	987.91	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.067;DP=426;ExcessHet=1.1394;FS=255.575;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=4.08;ReadPosRankSum=0.6;SOR=8.254	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:74,21:104:99:.:.:832,0,2886:.	5	0	1	1
chr15	33662923	33662923	G	A	exonic	RYR3	.	nonsynonymous SNV	RYR3:NM_001036:exon35:c.G5393A:p.R1798Q,RYR3:NM_001243996:exon35:c.G5393A:p.R1798Q	.	1	1520	1	0	0	1	0.000328839	.	.	.	464846	Epileptic_encephalopathy|not_provided	Human_Phenotype_Ontology:HP:0200134,MedGen:C0543888|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.069	0.0120946163499	0.0005	0.000599042	0.0007	0.0001	0.0009	0	0	0.0010	0.0034	0.0002	0.0007374	114	154602	rs148818748	0.0008	0.0008	0.0008	0.0008	0.0016	0.0008	0.0008	0.0013	0.0011	0.0002	0.0015	0	2.519e-05	0.0002	0.0016	0.0009	0.0007	0.0003	0.0010	0.0010	0.0009	0.0010	0.0032	0.0008	0.0008	0.0025	0.0022	0.0003	0	0.0032	0	0	9.416e-05	0	0.0011	0.0009	0.0004	0.089	0.32141	T	.	.	.	0.89	0.48942	P	0.261	0.39516	B	0.076687	0.21148	N	0.435503	0.727036	0.33678	D	1.32	0.33002	L	-0.65	0.72237	T	-1.68	0.40082	N	0.56	0.58458	-0.5538	0.66642	T	0.190	0.54213	T	10	0.033837706	0.01571	T	0.012095	0.30348	T	0.069	0.20116	.	.	0.627531238784	0.62449	0.24972037225970528	0.24886	0.215774892835	0.24110	0.509281754494	0.40121	T	0.373449	0.73744	T	-0.372084	0.03490	T	-0.313725	0.43257	T	0.0163362692814063	0.00403	T	0.934007	0.75281	D	0.1122082	0.26509	0.08620373	0.19957	0.1122082	0.26509	0.08620373	0.19956	-5.062	0.37505	T	.	.	0.105	0.19316	B	.;.;.;.;.	.;.;.;.;.	3.060710	0.41100	21.3	0.99843135155694984	0.92316	0.94968	0.62960	D	AEFI	0.413851	0.48336	N	0.209972052085901	0.51682	3.347555	0.304552988481508	0.55806	3.743499	0.0326659759501655	0.14066	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.98	4.98	0.65679	2.296000	0.43245	5.198000	0.47923	0.668000	0.69082	0.885000	0.31090	0.984000	0.30665	0.698000	0.34080	0.078:0.0:0.922:0.0	12.176	0.53490	932	0.16191	.;.;.;.;.	.	.	.	.	.	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	1978.53	39	chr15	33662923	.	G	A	1978.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.102;DP=331;ExcessHet=0;FS=3.275;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.22;ReadPosRankSum=0.508;SOR=0.434	GT:AD:DP:GQ:PL	0/1:54,76:130:99:1989,0,1345	6	0	1	0
chr15	38322274	38322274	A	G	exonic	SPRED1	.	nonsynonymous SNV	SPRED1:NM_152594:exon3:c.A241G:p.I81V	Legius syndrome, Autosomal dominant	5	1514	3	0	0	3	0.000989772	.	.	.	2037378	Legius_syndrome|Cardiovascular_phenotype	MONDO:MONDO:0012669,MedGen:C1969623,OMIM:611431,Orphanet:137605|MedGen:CN230736	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.356	0.0345527399339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.421e-06	3.42e-06	2.723e-06	4.126e-06	0.0002	1e-06	7.3e-07	.	.	0	0	0	0	0	0.0002	8.994e-07	3.312e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.000002	0.62929	D	0.100701	0.650511	0.32959	D	-0.465	0.02725	N	-4.91	0.98352	D	0.64	0.02368	N	0.085	0.06190	0.108	0.84313	D	0.670	0.88564	D	10	0.1555889	0.29322	T	0.034553	0.55756	D	0.356	0.67691	0.426	0.47185	0.422182357427	0.41838	0.3055993879931948	0.30472	0.287075476058	0.31106	0.461811125278	0.33559	T	0.411335	0.76581	T	0.0301939	0.55749	T	-0.194405	0.55176	T	0.163136258721352	0.18100	T	0.616838	0.23625	T	0.0780809	0.17761	0.068972155	0.14474	0.0780809	0.17760	0.068972155	0.14474	-1.394	0.01561	T	0.05652270401119524	0.01318	0.080	0.07985	B	.;.	.;.	2.283463	0.29200	18.05	0.59521154653640318	0.06244	0.77667	0.38214	D	AEFBI	0.123070	0.23850	N	-0.531167739395005	0.21078	1.115986	-0.235354290377813	0.30280	1.703487	0.999958058063304	0.48110	0.706298	0.61202	0	0.588015	0.36545	0	0.709663	0.75317	0	0.633917	0.49826	0	.	.	5.93	4.8	0.61157	3.958000	0.56444	7.130000	0.57621	-0.093000	0.16093	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.7742:0.0:0.2258:0.0	8.092	0.29969	938	0.14419	WH1/EVH1 domain|WH1/EVH1 domain|WH1/EVH1 domain;WH1/EVH1 domain|WH1/EVH1 domain|WH1/EVH1 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	.	.	.	.	.	.	.	.	0.08333	605.27	26	chr15	38322274	.	A	G	605.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.339;DP=209;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.88;ReadPosRankSum=-0.032;SOR=0.628	GT:AD:DP:GQ:PL	0/1:20,27:47:99:615,0,449	5	0	1	1
chr15	41568965	41568965	G	A	exonic	TYRO3	.	nonsynonymous SNV	TYRO3:NM_001330264:exon9:c.G1060A:p.A354T,TYRO3:NM_006293:exon9:c.G1195A:p.A399T	.	425	1084	13	0	0	13	0.00596057	.	.	.	2380029	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.061	0.00886099944089	7.7e-05	0.000798722	0.0002	9.626e-05	0	0	0	0.0002	0	0.0003	0.0001552	24	154602	rs199712738	0.0001	0.0001	9.937e-05	0.0001	0.0049	0.0001	0.0001	0.0035	0.0030	8.961e-05	0.0002	0	0	0	0.0049	8.363e-05	0.0004	0.0003	0.0001	0.0001	8.994e-05	0.0001	0.0010	7.086e-05	5.743e-05	0.0004	0.0003	7.22e-05	0	6.535e-05	0	0	0	0	0.0001	0	0.0010	0.172	0.23450	T	0.556	0.09236	T	0.097	0.25541	B	0.175	0.35598	B	0.018131	0.27555	N	0.173587	0.936306	0.37151	D	1.7	0.43825	L	0.43	0.56772	T	-0.88	0.23808	N	0.163	0.17553	-0.9657	0.38073	T	0.138	0.45526	T	10	0.028312981	0.00965	T	0.008861	0.23366	T	0.061	0.17616	.	.	0.19168177325	0.18762	0.32170240943251965	0.32083	0.421253415307	0.42638	0.456272006035	0.32801	T	0.010157	0.43794	T	-0.325051	0.06492	T	-0.376729	0.36104	T	0.0312639685649748	0.02188	T	0.854215	0.54045	D	0.21289685	0.43655	0.13007645	0.31264	0.21289685	0.43655	0.13007645	0.31264	-4.064	0.24757	T	.	.	0.070	0.03372	B	.;.	.;.	4.077361	0.60628	24.2	0.99832759558270867	0.91456	0.80639	0.40225	D	AEFDGBCI	0.416910	0.48517	N	-0.00133697401445527	0.41793	2.506364	0.170250811436877	0.48224	3.041325	0.999999995513229	0.74766	0.733237	0.96898	0	0.610034	0.51514	0	0.600757	0.32118	0	0.727631	0.95156	0	.	.	5.28	5.28	0.74118	2.336000	0.43597	7.585000	0.61076	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.8419:0.1581	13.381	0.60210	178	0.93097	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	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	1505.53	33	chr15	41568965	.	G	A	1505.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.044;DP=372;ExcessHet=0;FS=0.654;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.76;ReadPosRankSum=0.976;SOR=0.774	GT:AD:DP:GQ:PL	0/1:67,61:128:99:1516,0,1629	6	0	1	0
chr15	41710808	41710808	C	T	exonic	MGA	.	nonsynonymous SNV	MGA:NM_001080541:exon8:c.C2543T:p.A848V,MGA:NM_001164273:exon8:c.C2543T:p.A848V	.	435	1082	5	0	0	5	0.00230521	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.00549522568171	.	0.000399361	9.996e-05	0	8.72e-05	0	0	0.0001	0	0.0002	0.0001035	16	154602	rs532680103	7.047e-05	7.114e-05	5.037e-05	9.077e-05	0.0012	5.914e-05	5.523e-05	0.0006	0.0004	0	0.0001	0	0	0	0.0012	6.296e-05	0.0001	0.0002	7.224e-05	7.218e-05	6.425e-05	8.058e-05	0.0004	3.969e-05	3.126e-05	7.29e-05	3.029e-05	4.812e-05	0	6.538e-05	0	0	0	0	8.822e-05	0	0.0004	0.005	0.68238	D	0.008	0.67890	D	.	.	.	.	.	.	0.268931	0.15166	N	0.620771	0.918534	0.27348	N	0.895	0.22405	L	2.27	0.17431	T	-1.73	0.43334	N	0.6	0.61933	-1.0926	0.05112	T	0.045	0.19437	T	10	0.054035038	0.05690	T	0.005495	0.14136	T	0.117	0.32689	0.127	0.03251	0.0675242888579	0.06100	0.22483419881071695	0.22398	0.152770602881	0.17239	0.500603675842	0.38912	T	0.078471	0.35898	T	-0.328757	0.06205	T	-0.435714	0.29290	T	0.118477528655395	0.14281	T	0.928457	0.74113	D	.	.	.	.	.	.	.	.	-2.915	0.09294	T	.	.	0.099	0.17869	B	.;.;.;.;.;.	.;.;.;.;.;.	3.596847	0.50782	23.0	0.99855972686770311	0.93458	0.53917	0.29488	D	AEFDBI	0.117349	0.22992	N	0.228536036434878	0.52587	3.43185	0.300460083752225	0.55568	3.719612	0.93814360741366	0.27330	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.636168	0.56350	0	.	.	6.08	6.08	0.98982	4.461000	0.59851	6.008000	0.52598	0.599000	0.40250	0.997000	0.40164	1.000000	0.68203	0.998000	0.85391	0.1392:0.8608:0.0:0.0	15.389	0.74446	129	0.94817	.;.;.;.;.;.	.	.	.	.	.	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	2157.45	34	chr15	41710808	.	C	T	2157.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.852;DP=345;ExcessHet=0;FS=1.237;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.08;ReadPosRankSum=-1.511;SOR=0.838	GT:AD:DP:GQ:PL	0/1:78,87:165:99:2168,0,1905	6	0	1	0
chr15	41854203	41854203	G	T	exonic	SPTBN5	.	nonsynonymous SNV	SPTBN5:NM_016642:exon57:c.C9621A:p.N3207K	.	401	1117	4	0	0	4	0.00178731	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	0.0418606024447	.	0.000199681	0.0013	0	0	0	0	0.0002	0.0024	0.0063	0.0005304	82	154602	rs201431158	0.0004	0.0004	0.0002	0.0005	0.0051	0.0003	0.0003	0.0047	0.0045	0	7.036e-05	0.0005	0	0	0.0010	4.534e-05	0.0004	0.0051	0.0002	0.0002	7.72e-05	0.0003	0.0037	0.0001	0.0001	0.0024	0.0020	0	0	6.54e-05	0.0006	0	0	0.0035	7.357e-05	0.0009	0.0037	0.174	0.22486	T	0.029	0.54541	D	0.978	0.58756	D	0.832	0.59730	P	0.064465	0.21951	N	0.425347	0.999999	0.08975	N	1.445	0.36358	L	0.88	0.46028	T	-2.89	0.60665	D	0.185	0.20129	-1.0346	0.18983	T	0.118	0.41473	T	10	0.009725779	0.00219	T	0.041861	0.60158	D	0.104	0.29647	0.544	0.65731	0.651126778619	0.64822	0.05074115294350491	0.05016	.	.	0.326735109091	0.14440	T	0.010984	0.09859	T	-0.654078	0.00068	T	-0.711773	0.05204	T	0.115002226604665	0.13934	T	0.372463	0.08834	T	0.12245944	0.28777	0.15418378	0.36198	0.12245944	0.28777	0.15418378	0.36197	-5.332	0.40259	T	.	.	0.227	0.45859	B	.	.	0.672636	0.10411	7.134	0.73114132534820442	0.10212	0.41249	0.26615	N	AEFDBCI	0.137333	0.25828	N	-0.474056939460337	0.22933	1.227999	-0.612929028083871	0.19160	1.026818	0.956358514303971	0.28242	0.706548	0.73137	0	0.547309	0.14657	0	0.645312	0.48771	0	0.714379	0.83352	0	.	.	4.0	1.06	0.19341	-0.106000	0.10860	2.129000	0.30768	-0.820000	0.02968	0.715000	0.28771	1.000000	0.68203	0.263000	0.23594	0.3303:0.1521:0.5176:0.0	4.974	0.13479	219	0.91485	.	.	.	.	.	.	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	0.003532	0.000000	0.001359	0.000000	0.000000	0.000000	0.006135	0.007576	0.07143	515.83	32	chr15	41854203	.	G	T	515.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.238;DP=216;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.38;ReadPosRankSum=0.051;SOR=0.665	GT:AD:DP:GQ:PL	0/1:30,25:55:99:526,0,669	6	0	1	0
chr15	42081094	42081094	G	A	exonic	PLA2G4D	.	nonsynonymous SNV	PLA2G4D:NM_178034:exon12:c.C997T:p.R333W	.	425	1081	16	0	0	16	0.00734619	.	.	.	714431	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.209	.	0.0076	0.00838658	0.0042	0.0168	0.0029	0.0023	0	0.0023	0.0022	0.0074	0.0039909	617	154602	rs56985825	0.0022	0.0022	0.0021	0.0023	0.0174	0.0021	0.0021	0.0162	0.0158	0.0174	0.0032	0.0052	0.0008	7.489e-05	0.0087	0.0013	0.0036	0.0072	0.0064	0.0064	0.0068	0.0060	0.0176	0.0061	0.0060	0.0166	0.0161	0.0176	0	0.0042	0.0072	0.0013	0	0.0034	0.0016	0.0038	0.0064	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000081	0.52346	D	0.000000	0.591351	0.32459	D	3.84	0.95699	H	2.29	0.17113	T	-7.47	0.94958	D	0.783	0.77978	-0.6227	0.63876	T	0.081	0.31972	T	10	0.014102638	0.00297	T	.	.	.	0.209	0.49871	.	.	0.587508425673	0.58425	0.8644801449638239	0.86412	0.356845921118	0.37416	0.534802377224	0.43710	T	0.214321	0.57587	T	-0.364048	0.03906	T	-0.281426	0.46657	T	0.10281324707795	0.12664	T	0.979302	0.92791	D	0.93835455	0.95080	0.92028856	0.96418	0.93835455	0.95080	0.92028856	0.96419	-9.315	0.69701	D	.	.	0.484	0.63830	A	.	.	4.466568	0.69563	25.4	0.99915561092876015	0.98379	0.30734	0.24158	N	AEFBI	0.256910	0.37574	N	0.372173861205592	0.59918	4.17555	0.193405407351584	0.49485	3.151077	0.996128221974892	0.34540	0.495158	0.18159	0	0.610034	0.51514	0	0.535252	0.11790	0	0.530356	0.10902	0	.	.	4.29	2.2	0.26966	0.206000	0.17174	5.491000	0.48748	0.669000	0.69127	0.002000	0.15269	1.000000	0.68203	0.985000	0.61073	0.0:0.0:0.5221:0.4779	12.012	0.52584	84	0.96491	Lysophospholipase, catalytic domain|Lysophospholipase, catalytic domain|Lysophospholipase, 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	0	0	1	0	0.008560	0.000000	0.010870	0.017544	0.000000	0.000000	0.006098	0.003788	0.07143	1329.83	35	chr15	42081094	.	G	A	1329.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.46;DP=334;ExcessHet=0;FS=1.544;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.46;ReadPosRankSum=-0.791;SOR=0.909	GT:AD:DP:GQ:PL	0/1:61,55:116:99:1340,0,1438	6	0	1	0
chr15	42417393	42417393	G	A	exonic	ZNF106	.	nonsynonymous SNV	ZNF106:NM_001381998:exon20:c.C3079T:p.L1027F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.26e-06	0	0	0	0	1.502e-05	0	0	6.5e-06	1	154602	rs766932726	6.857e-07	1.368e-06	0	1.378e-06	9.015e-07	0	0	.	.	0	0	0	0	0	0	9.015e-07	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	A	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	0/1:46,9:59:32:.:.:141,0,1084:.	4	0	2	1
chr15	43206561	43206561	C	T	exonic	EPB42	.	nonsynonymous SNV	EPB42:NM_000119:exon10:c.G1477A:p.G493S,EPB42:NM_001114134:exon10:c.G1387A:p.G463S	Spherocytosis, type 5	0	1502	20	0	0	20	0.00661376	.	.	.	797135	Inborn_genetic_diseases|not_provided|Hereditary_spherocytosis_type_5|EPB42-related_disorder	MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0012985,MedGen:C2675192,OMIM:612690,Orphanet:822|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.121	0.0257109032744	0.0005	0.000199681	0.0008	0	0.0007	0	0	0.0010	0.0022	0.0008	0.0007503	116	154602	rs148871144	0.0006	0.0006	0.0005	0.0006	0.0111	0.0006	0.0005	0.0089	0.0081	0.0002	0.0011	0.0025	2.519e-05	7.488e-05	0.0111	0.0005	0.0008	0.0008	0.0006	0.0006	0.0006	0.0005	0.0009	0.0005	0.0004	0.0007	0.0006	4.815e-05	0	0.0004	0.0026	0	0	0.0170	0.0009	0.0005	0.0004	0.293	0.14843	T	0.213	0.26467	T	0.065	0.25584	B	0.011	0.19048	B	0.990152	0.08036	N	0.995724	1	0.08975	N	0.27	0.09956	N	-1.2	0.78537	T	-0.85	0.23156	N	0.101	0.13769	-0.9505	0.40885	T	0.193	0.54579	T	10	0.0067667365	0.00154	T	0.025711	0.48665	D	0.121	0.33580	.	.	0.624960652763	0.62190	0.5285222911597147	0.52776	.	.	0.232114210725	0.02128	T	0.048349	0.27991	T	-0.416961	0.01789	T	-0.422153	0.30827	T	0.0013316192153126	0.00013	T	0.650635	0.26150	T	0.031930875	0.03125	0.034831215	0.02622	0.033536308	0.03591	0.03930634	0.03994	-2.651	0.06901	T	.	.	0.073	0.08417	B	.;.;.;.;.	.;.;.;.;.	-0.375423	0.02306	0.244	0.87960282565715497	0.17611	0.00842	0.03373	N	AEFDGBI	0.073020	0.14591	N	-1.15052622456171	0.05771	0.2639676	-1.15399385048992	0.06696	0.3232007	0.98899341291255	0.31691	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.14	0.118	0.13972	-0.419000	0.07136	0.074000	0.14299	-0.807000	0.03101	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.0:0.4874:0.165:0.3476	4.332	0.10507	17	0.98681	.;.;.;.;.	.	.	.	.	.	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	0.009063	0.015152	0.014946	0.002924	0.000000	0.017241	0.000000	0.003788	0.07143	1413.44	34	chr15	43206561	.	C	T	1413.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.376;DP=315;ExcessHet=0;FS=4.608;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.4;ReadPosRankSum=1.75;SOR=0.388	GT:AD:DP:GQ:PL	0/1:64,60:124:99:1424,0,1462	6	0	1	0
chr15	43611236	43611236	C	T	exonic	STRC	.	nonsynonymous SNV	STRC:NM_153700:exon13:c.G3218A:p.R1073Q	Deafness, autosomal recessive 16, Autosomal recessive	565	951	6	0	0	6	0.00314465	.	.	YES	175974	not_specified|Autosomal_recessive_nonsyndromic_hearing_loss_16|not_provided	MedGen:CN169374|MONDO:MONDO:0011364,MedGen:C1863561,OMIM:603720,Orphanet:90636|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.119	0.0134599484225	.	.	0.0034	0	0	0	0	0.0045	0	0.0041	0.0001164	18	154602	rs727503449	0.0007	0.0006	0.0007	0.0007	0.0070	0.0006	0.0006	0.0046	0.0038	0.0003	0.0012	0.0022	3.052e-05	6.148e-05	0.0070	0.0007	0.0009	0.0004	0.0004	0.0005	0.0005	0.0004	0.0007	0.0003	0.0003	0.0005	0.0005	0	0	0.0002	0.0029	0	0	0.0155	0.0007	0	0	0.224	0.18691	T	0.088	0.40586	T	0.611	0.39680	P	0.042	0.24114	B	0.642251	0.10588	N	0.789047	0.997331	0.43805	D	.	.	.	-1.06	0.76819	T	0.06	0.06253	N	0.119	0.10911	-0.8642	0.50959	T	0.174	0.51706	T	10	0.008996576	0.00203	T	0.01346	0.32880	T	0.119	0.33137	0.335	0.32329	0.468253365638	0.46452	0.2666016499406895	0.26573	.	.	0.624082803726	0.56306	T	0.034431	0.23318	T	-0.105645	0.35488	T	-0.389528	0.34607	T	0.00592443047746709	0.00065	T	0.863714	0.56064	D	0.067808054	0.14717	0.065592356	0.13315	0.07119101	0.15741	0.064837426	0.13053	-2.968	0.09840	T	0.2474195063170448	0.33505	0.084	0.09820	B	.	.	3.624974	0.51315	23.1	0.99928419439762683	0.99222	0.16937	0.19616	N	AEFI	0.099766	0.20075	N	-0.277549276525548	0.30017	1.669883	-0.183876865470174	0.32128	1.824808	4.46666224071457E-5	0.03989	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	4.15	3.22	0.36041	1.029000	0.29747	1.462000	0.26688	0.596000	0.33519	0.664000	0.28295	0.814000	0.27065	0.989000	0.64315	0.0:0.6781:0.2103:0.1116	5.327	0.15221	8	0.99202	.	.	.	.	.	.	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	0.010317	0.000000	0.018116	0.011494	0.000000	0.010204	0.000000	0.000000	0.08333	61.01	2	chr15	43611236	.	C	T	61.01	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.38;DP=30;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=40;MQRankSum=0;QD=15.25;ReadPosRankSum=1.38;SOR=0.693	GT:AD:DP:GQ:PL	0/1:2,2:4:55:70,0,55	5	0	1	1
chr15	69423285	69423285	A	G	exonic	KIF23	.	nonsynonymous SNV	KIF23:NM_001281301:exon6:c.A360G:p.I120M,KIF23:NM_001367804:exon7:c.A690G:p.I230M,KIF23:NM_001367805:exon7:c.A690G:p.I230M,KIF23:NM_004856:exon7:c.A690G:p.I230M,KIF23:NM_138555:exon7:c.A690G:p.I230M	.	440	1074	8	0	0	8	0.00371058	.	.	.	739755	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.543	0.0566998144182	0.0002	0.00179712	0.0011	0	0.0002	0	0	0.0004	0	0.0061	0.0008991	139	154602	rs199679829	0.0006	0.0006	0.0004	0.0008	0.0064	0.0006	0.0005	0.0059	0.0057	3.125e-05	0.0002	3.884e-05	0	0	0.0023	0.0003	0.0006	0.0064	0.0005	0.0005	0.0003	0.0006	0.0079	0.0004	0.0003	0.0059	0.0052	0.0001	0	0.0004	0	0	0	0.0034	0.0003	0	0.0079	0.002	0.72154	D	0.003	0.76473	D	0.848	0.55278	P	0.746	0.55899	P	0.000000	0.84330	D	0.043187	0.999592	0.47742	D	2.215	0.62545	M	-1.25	0.79072	T	-2.41	0.52938	N	0.854	0.86833	-0.3344	0.74006	T	0.429	0.77127	T	10	0.010502368	0.00233	T	0.057	0.66701	D	0.543	0.80960	.	.	0.917344175841	0.91651	0.5821520425212087	0.58144	0.827125518207	0.67455	0.700353622437	0.67194	T	0.664389	0.89966	D	-0.0924354	0.37675	T	0.0970584	0.76713	D	0.180450450184777	0.19263	T	0.978502	0.92407	D	0.7315655	0.79812	0.6390473	0.78917	0.79989463	0.83900	0.71347857	0.83094	-8.192	0.63431	D	0.6245643271954806	0.69329	0.503	0.67522	A	.;.;.;.;.	.;.;.;.;.	2.560751	0.33167	19.26	0.98387140358111247	0.40915	0.80771	0.40325	D	AEFBI	0.191481	0.31868	N	-0.387665886520299	0.25908	1.409931	-0.522864905616879	0.21533	1.165317	0.999924423205309	0.46280	0.732398	0.92422	0	0.743671	0.97443	0	0.670488	0.60580	0	0.727631	0.95156	0	.	.	5.53	-3.9	0.03904	0.228000	0.17594	1.567000	0.27393	-0.095000	0.16041	0.963000	0.33788	0.999000	0.35428	0.984000	0.60418	0.203:0.5212:0.0696:0.2062	5.243	0.14801	841	0.37094	Kinesin motor domain|Kinesin motor domain|Kinesin motor domain;Kinesin motor domain|Kinesin motor domain|Kinesin motor domain;.;Kinesin motor domain|Kinesin motor domain|Kinesin motor domain;Kinesin motor domain|Kinesin motor domain|Kinesin motor domain	.	.	.	.	.	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	0	0	0.002014	0.000000	0.001359	0.002924	0.000000	0.008621	0.000000	0.000000	0.08333	1385.27	35	chr15	69423285	.	A	G	1385.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.18;DP=285;ExcessHet=0;FS=0.807;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.06;ReadPosRankSum=1.73;SOR=0.871	GT:AD:DP:GQ:PL	0/1:40,52:92:99:1395,0,877	5	0	1	1
chr15	75289625	75289625	C	G	exonic	GOLGA6D	.	nonsynonymous SNV	GOLGA6D:NM_001145224:exon9:c.C685G:p.R229G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.166	0.0192123580274	.	.	.	.	.	.	.	.	.	.	.	.	.	rs547963770	3.649e-05	2.663e-05	3.525e-05	3.762e-05	0.0004	2.537e-05	2.156e-05	2.469e-05	1.783e-05	0	9.318e-05	0	0	0	0.0004	3.584e-05	5.637e-05	4.593e-05	2.636e-05	5.037e-05	2.47e-05	2.826e-05	5.127e-05	4.38e-06	1.64e-06	8.49e-06	3.18e-06	0	0	0	0	0	0	0	5.127e-05	0	0	0.006	0.61437	D	0.006	0.70582	D	0.999	0.77913	D	0.977	0.73820	D	.	.	.	.	0.890326	0.27893	N	3.02	0.86243	M	1.15	0.38236	T	-5.22	0.83830	D	0.45	0.48780	-0.8457	0.52263	T	0.214	0.57586	T	9	0.21962628	0.38637	T	0.019212	0.41510	T	0.166	0.42578	0.308	0.27967	0.141422826196	0.13715	0.6557014712945679	0.65506	2.28829426399	0.96376	0.705330729485	0.67916	T	0.262697	0.63431	T	-0.081265	0.39510	T	-0.354508	0.38687	T	0.91190493106842	0.56762	D	0.935906	0.76420	D	0.19932139	0.41868	0.22355676	0.47239	0.19932139	0.41867	0.22355676	0.47238	-10.018	0.74020	D	.	.	0.276	0.50925	B	.;.	.;.	2.144177	0.27310	17.42	0.9232189427437415	0.21716	0.34408	0.25060	N	AEFI	0.155553	0.28077	N	-0.34596804681563	0.27421	1.504285	-0.578136394763033	0.20064	1.079303	3.84908076355646E-4	0.06781	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	2.28	2.28	0.27583	0.856000	0.27473	2.239000	0.31595	-2.461000	0.00277	0.993000	0.37899	0.802000	0.26959	0.000000	0.00833	0.5314:0.4686:0.0:0.0	6.901	0.23461	508	0.75398	.;.	.	.	.	.	.	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	262.47	.	chr15	75289625	.	C	G	262.47	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.59;DP=105;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=27.39;MQRankSum=0.969;QD=10.94;ReadPosRankSum=0.464;SOR=0.551	GT:AD:DP:GQ:PL	0/1:13,11:24:99:272,0,310	5	0	1	1
chr15	78776778	78776778	C	T	exonic	ADAMTS7	.	nonsynonymous SNV	ADAMTS7:NM_014272:exon10:c.G1531A:p.V511M	.	404	1103	15	0	0	15	0.00675371	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197	.	.	.	0.0048	0.0011	0.0024	0	0	0.0050	0.0101	0.0062	0.0010479	162	154602	rs146326084	0.0031	0.0093	0.0030	0.0031	0.0068	0.0030	0.0030	0.0051	0.0045	0.0004	0.0014	0.0002	0	0.0002	0.0068	0.0036	0.0026	0.0026	0.0010	0.0055	0.0010	0.0010	0.0017	0.0009	0.0008	0.0013	0.0012	0.0002	0	0.0017	0.0003	0	0.0006	0.0035	0.0015	0.0010	0.0017	0.03	0.45393	D	0.035	0.52389	D	1.0	0.90584	D	0.996	0.84481	D	0.000002	0.62929	D	0.000000	0.999984	0.54805	D	.	.	.	0.16	0.60610	T	-2.24	0.50175	N	0.368	0.40963	-0.4123	0.71636	T	0.311	0.68112	T	10	0.024242163	0.00660	T	.	.	.	0.197	0.47942	.	.	0.77308684516	0.77100	0.5804270689733002	0.57971	0.749224044332	0.63684	0.658837497234	0.61242	T	0.022508	0.17341	T	0.0405265	0.57114	T	-0.179563	0.56563	T	0.544937610626221	0.34288	D	0.940706	0.77799	D	0.1005538	0.23745	0.15226209	0.35831	0.1005538	0.23744	0.15226209	0.35830	-8.343	0.63384	D	.	.	0.271	0.50509	B	.	.	4.508606	0.70581	25.5	0.99908254673372687	0.97801	0.96474	0.69319	D	AEFBI	0.650980	0.62489	D	0.534252785431371	0.69131	5.31345	0.480624850693116	0.66706	4.987275	0.999999161379799	0.74766	0.732398	0.92422	0	0.573888	0.26702	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	4.09	4.09	0.47038	7.482000	0.80187	5.790000	0.49863	0.518000	0.23583	1.000000	0.71638	1.000000	0.68203	0.744000	0.35576	0.0:1.0:0.0:0.0	15.061	0.71618	496	0.76301	.	.	.	.	.	.	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	0.003712	0.000000	0.005731	0.000000	0.000000	0.000000	0.006494	0.003788	0.07143	374.46	40	chr15	78776778	.	C	T	374.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.799;DP=407;ExcessHet=0;FS=1.78;MLEAC=1;MLEAF=0.071;MQ=59.49;MQRankSum=-10.74;QD=1.73;ReadPosRankSum=3.82;SOR=0.514	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:193,23:216:99:0|1:78776778_C_T:385,0,7940:78776778	6	0	1	0
chr15	78776843	78776843	T	C	splicing	ADAMTS7	NM_014272:exon10:c.1468-2A>G	.	.	.	390	1119	13	0	0	13	0.00577521	1.0000	0.936	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.999e-05	0.0004	0	0	0	0	0	0	3.23e-05	5	154602	rs761832715	0.0006	0.0038	0.0005	0.0006	0.0018	0.0005	0.0005	0.0016	0.0015	0.0002	0.0006	0.0001	0.0006	0.0002	0.0018	0.0005	0.0007	0.0018	0.0006	0.0041	0.0006	0.0006	0.0009	0.0005	0.0005	0.0007	0.0006	0.0003	0	0.0009	0	0.0004	0	0	0.0009	0.0005	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12313	0.66684	D	-0.0609084	0.66268	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.618340	0.73312	26.0	0.99143664291259825	0.53600	0.96440	0.69150	D	AEFBI	.	.	.	0.821604702649219	0.87435	9.217823	0.583033767872228	0.73725	6.017524	0.999366450694202	0.39301	0.262962	0.04601	0	0.084543	0.02171	0	0.292756	0.05521	0	0.24341	0.04801	0	0.877846	0.54522	3.85	3.85	0.43556	7.587000	0.81895	5.989000	0.52298	0.574000	0.29054	1.000000	0.71638	1.000000	0.68203	0.230000	0.22734	0.0:0.0:0.0:1.0	11.631	0.50434	496	0.76301	.	.	.	.	.	.	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	301.53	40	chr15	78776843	.	T	C	301.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.43;DP=306;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=59.53;MQRankSum=-4.989;QD=3.05;ReadPosRankSum=-1.291;SOR=0.532	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:85,14:99:99:0|1:78776843_T_C:312,0,3407:78776843	6	0	1	0
chr15	82345026	82345110	TAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACAC	0	exonic	GOLGA6L10	.	.	.	.	637	825	3	0	57	60	0.00181488	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	127.85	42	chr15	82345026	.	TAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACAC	*	127.85	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.24;DP=778;ExcessHet=1.1394;FS=15.248;MLEAC=2;MLEAF=0.143;MQ=38.5;MQRankSum=-0.364;QD=0.28;ReadPosRankSum=-1.257;SOR=0.958	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:142,57:208:99:.:.:1200,0,3752:.	5	0	2	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|1:142,59:208:99:0|1:82345023_ACGTAGCCTCTCCTCC_*:1252,0,3759:82345023	1	0	3	3
chr15	84512517	84512517	-	AGCCTCTCCTCCTGTTCACAC	exonic	GOLGA6L4	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0036	0.0074	0.0036	0.0036	0.0225	0.0035	0.0035	0.0211	0.0206	0.0003	0.0019	0.0031	0.0225	0.0093	0.0059	0.0031	0.0049	0.0007	0.0010	0.0031	0.0010	0.0010	0.0019	0.0008	0.0008	0.0012	0.0011	0.0002	0	0.0013	0.0004	0.0019	0.0015	0	0.0015	0.0006	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	173.97	34	chr15	84512517	.	T	TAGCCTCTCCTCCTGTTCACAC	173.97	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.271;DP=364;ExcessHet=0;FS=3.859;MLEAC=1;MLEAF=0.071;MQ=46.02;MQRankSum=-5.822;QD=1.12;ReadPosRankSum=0.662;SOR=1.132	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:38,30:92:99:.:.:913,0,1509:.	6	0	1	0
chr15	88530840	88530840	T	C	exonic	DET1	.	nonsynonymous SNV	DET1:NM_001144074:exon2:c.A866G:p.D289G,DET1:NM_001321596:exon3:c.A866G:p.D289G,DET1:NM_017996:exon3:c.A899G:p.D300G,DET1:NM_001321594:exon4:c.A764G:p.D255G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.318	0.00613817741382	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.51853	D	0.009	0.66756	D	0.505	0.37231	P	0.27	0.39872	B	0.000016	0.62929	D	0.152324	0.999966	0.81001	D	1.385	0.34509	L	.	.	.	-3.25	0.65283	D	0.479	0.51672	-0.7606	0.57373	T	0.199	0.55428	T	9	0.52906257	0.63078	D	0.006138	0.16082	T	0.318	0.64008	0.456	0.52102	0.0675242888579	0.06100	0.595297197239194	0.59459	0.736621479123	0.63016	0.657280743122	0.61021	T	0.425961	0.77591	T	0.0656937	0.60321	T	-0.143412	0.59821	T	0.961599886417389	0.66126	D	0.915108	0.69728	D	0.35442662	0.57409	0.35527286	0.61058	0.35442662	0.57409	0.35527286	0.61057	-3.559	0.17871	T	.	.	0.422	0.62236	A	.;.;.;.	.;.;.;.	3.993478	0.58790	24.0	0.9968250448962318	0.79373	0.98529	0.83755	D	AEFBI	0.844511	0.76147	D	0.374329023459271	0.60035	4.188161	0.514087085182772	0.68935	5.28951	0.999999999890716	0.74766	0.651	0.46895	0	0.546412	0.12157	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	6.17	6.17	0.99707	7.279000	0.77969	7.849000	0.70877	0.651000	0.53179	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	16.003	0.80122	882	0.29131	.;.;.;.	.	.	.	.	.	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	36.89	54	chr15	88530840	.	T	C	36.89	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-2.707;DP=467;ExcessHet=0.4139;FS=202.526;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=0.23;ReadPosRankSum=1.09;SOR=7.824	GT:AD:DP:GQ:PL	0/1:85,24:109:22:22,0,1904	4	0	2	1
chr15	89776903	89776915	AGGGCAGGGGCAG	0	exonic	MESP2	.	.	.	Spondylocostal dysostosis 2, autosomal recessive	68	42	561	596	255	2008	0.954273	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	5841.52	24	chr15	89776903	.	AGGGCAGGGGCAG	*	5841.52	.	AC=4;AF=0.286;AN=14;DP=222;ExcessHet=0;FS=0;MLEAC=4;MLEAF=0.286;MQ=60;QD=30.58;SOR=0.746	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,15:24:99:1|0:89776889_GAGGGGCAGGGGCAAGGGCAGGGGC_G:1022,376,326:89776889	4	1	2	0
chr15	91251894	91251894	G	A	exonic	SV2B	.	nonsynonymous SNV	SV2B:NM_001167580:exon2:c.G74A:p.R25Q,SV2B:NM_001323036:exon2:c.G98A:p.R33Q,SV2B:NM_001323031:exon3:c.G527A:p.R176Q,SV2B:NM_001323032:exon3:c.G527A:p.R176Q,SV2B:NM_001323034:exon3:c.G527A:p.R176Q,SV2B:NM_001323038:exon3:c.G527A:p.R176Q,SV2B:NM_001323039:exon3:c.G527A:p.R176Q,SV2B:NM_001323040:exon3:c.G74A:p.R25Q,SV2B:NM_001323037:exon4:c.G527A:p.R176Q,SV2B:NM_014848:exon4:c.G527A:p.R176Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	.	.	0.00599042	0.0022	0.0002	8.642e-05	0.0294	0	0	0.0022	0.0002	0.0022121	342	154602	rs79725910	0.0007	0.0007	0.0007	0.0007	0.0212	0.0007	0.0007	0.0200	0.0195	0.0002	0.0001	0	0.0212	0	0	1.259e-05	0.0028	0.0004	0.0011	0.0011	0.0011	0.0012	0.0294	0.0010	0.0009	0.0256	0.0241	0.0002	0	0.0001	0	0.0294	0	0	4.411e-05	0.0005	0.0010	1.0	0.00964	T	1.0	0.01155	T	0.002	0.09854	B	0.003	0.08700	B	0.000037	0.55875	D	0.148800	0.984135	0.24826	N	0.085	0.08345	N	0.08	0.61559	T	-0.03	0.07444	N	0.106	0.09349	-1.0555	0.12908	T	0.021	0.08870	T	10	0.0046218336	0.00096	T	.	.	.	0.066	0.19193	.	.	0.0675242888579	0.06100	0.19944590590312744	0.19861	0.330876529916	0.35168	0.296148091555	0.09829	T	0.179853	0.53099	T	-0.542084	0.00326	T	-0.524282	0.19861	T	0.0103071279597595	0.00140	T	0.775622	0.40781	T	0.04940306	0.08766	0.060611226	0.11570	0.04940306	0.08766	0.060611226	0.11569	-5.304	0.39983	T	.	.	0.078	0.07036	B	.;.;.	.;.;.	1.870664	0.23763	16.14	0.58755493715466101	0.06065	0.48323	0.28181	N	AEFBI	0.139943	0.26171	N	-0.555523857857299	0.20311	1.069767	-0.329930548325449	0.27136	1.503726	0.00981764391535163	0.11918	0.625279	0.40028	0	0.60822	0.50512	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.38	1.94	0.25058	3.104000	0.49998	3.685000	0.39479	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.5138:0.0:0.4862:0.0	5.563	0.16441	809	0.43032	.;Sugar transporter, conserved site|Major facilitator superfamily domain|Major facilitator superfamily domain;Sugar transporter, conserved site|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	642.83	37	chr15	91251894	.	G	A	642.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.22;DP=218;ExcessHet=0;FS=1.026;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.69;ReadPosRankSum=-0.236;SOR=0.649	GT:AD:DP:GQ:PL	0/1:28,27:55:99:653,0,610	6	0	1	0
chr15	92630242	92630242	C	G	exonic	FAM174B	.	nonsynonymous SNV	FAM174B:NM_207446:exon2:c.G448C:p.D150H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.311	0.073062026662	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0016	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	0	3.865e-05	0	0	0.0002	0.0002	8.467e-05	9.359e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.0	0.92824	D	0.999	0.77913	D	0.966	0.71341	D	0.000026	0.55875	D	0.067157	0.873479	0.54805	D	2.415	0.69758	M	-0.29	0.67712	T	-6.37	0.91058	D	0.842	0.83781	-0.1468	0.78995	T	0.392	0.74554	T	10	0.8345976	0.82617	D	0.073062	0.71693	D	0.547	0.81193	0.638	0.77470	0.411401001288	0.40751	0.7881159167461645	0.78763	1.26599244295	0.82158	0.709424495697	0.68509	T	0.284843	0.65763	T	0.152206	0.69474	D	-0.0191427	0.69085	D	0.991113245487213	0.81371	D	0.873813	0.58316	D	0.7585243	0.81366	0.70495456	0.82608	0.7585243	0.81367	0.70495456	0.82609	-14.968	0.95777	D	.	.	0.987	0.92764	P	.	.	5.202349	0.87272	29.2	0.94001699280494422	0.24097	0.88850	0.48980	D	AEFGBHCI	0.899320	0.84358	D	0.493323972852971	0.66696	4.983993	0.544622876438528	0.71025	5.592279	1.0	0.98316	0.730579	0.87903	0	0.696144	0.67643	0	0.709663	0.75317	0	0.648885	0.59868	0	.	.	5.31	5.31	0.75063	7.180000	0.77215	7.433000	0.58809	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.0:1.0:0.0:0.0	17.723	0.88265	957	0.09725	.	.	.	.	.	.	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	217.03	37	chr15	92630242	.	C	G	217.03	.	AC=1;AF=0.25;AN=4;BaseQRankSum=-0.871;DP=404;ExcessHet=0;FS=137.217;MLEAC=2;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.05;ReadPosRankSum=-0.683;SOR=6.089	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:89,17:106:99:0|1:92630242_C_G:222,0,3604:92630242	1	0	1	5
chr15	92630245	92630245	C	G	exonic	FAM174B	.	nonsynonymous SNV	FAM174B:NM_207446:exon2:c.G445C:p.E149Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.193	0.0228964332442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.52492	D	0.017	0.60337	D	1.0	0.90584	D	0.99	0.78936	D	0.000043	0.53742	D	0.070627	0.664441	0.44502	D	2.095	0.58118	M	0.75	0.50192	T	-2.73	0.58085	D	0.569	0.59223	-0.2273	0.76958	T	0.332	0.69960	T	10	0.60730934	0.67247	D	0.022896	0.45827	T	0.215	0.50805	0.404	0.43573	0.0401082797425	0.02173	0.4675481303851458	0.46673	1.15860135375	0.79410	0.565466284752	0.48038	T	0.190896	0.54557	T	-0.046153	0.45029	T	-0.304072	0.44293	T	0.961356455792854	0.66059	D	0.911409	0.68582	D	0.33561563	0.55928	0.20909509	0.45240	0.33561563	0.55928	0.20909509	0.45239	-8.763	0.66158	D	.	.	0.729	0.74160	P	.	.	4.587400	0.72525	25.8	0.98463620350359216	0.41768	0.88917	0.49082	D	AEFGBHCI	0.859421	0.77710	D	0.492419084689025	0.66645	4.977127	0.550374849278894	0.71422	5.652677	1.0	0.98316	0.730579	0.87903	0	0.696144	0.67643	0	0.709663	0.75317	0	0.648885	0.59868	0	.	.	5.38	5.38	0.77279	7.180000	0.77215	5.752000	0.49633	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:1.0:0.0:0.0	17.872	0.88730	957	0.09725	.	.	.	.	.	.	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	206.94	83	chr15	92630245	.	C	G	206.94	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.51;DP=528;ExcessHet=0;FS=102.612;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=1.99;ReadPosRankSum=-0.033;SOR=5.667	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:88,16:104:99:0|1:92630242_C_G:217,0,3600:92630242	6	0	1	0
chr15	92630248	92630248	C	T	exonic	FAM174B	.	nonsynonymous SNV	FAM174B:NM_207446:exon2:c.G442A:p.D148N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.407	0.0913275477417	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.01	0.65728	D	0.999	0.77913	D	0.947	0.68407	D	0.000043	0.53742	D	0.070627	0.999355	0.81001	D	2.31	0.66127	M	0.39	0.57419	T	-4.12	0.75058	D	0.534	0.56231	-0.3962	0.72147	T	0.326	0.69444	T	10	0.60254693	0.66994	D	0.091328	0.75686	D	0.407	0.71946	0.583	0.70990	0.151104730317	0.14643	0.41635049519125117	0.41551	1.12360715339	0.78375	0.545847058296	0.45272	T	0.114192	0.43181	T	-0.0623556	0.42538	T	-0.327346	0.41764	T	0.995471358299255	0.87491	D	0.927207	0.73169	D	0.35433072	0.57402	0.31345323	0.57342	0.35433072	0.57402	0.31345323	0.57342	-10.471	0.76680	D	.	.	0.398	0.59438	A	.	.	4.925539	0.81165	27.5	0.99908419552125816	0.97875	0.86277	0.45526	D	AEFGBHCI	0.827818	0.74703	D	0.772525691349194	0.84361	8.266581	0.754799879812385	0.86515	8.914029	1.0	0.98316	0.730579	0.87903	0	0.696144	0.67643	0	0.709663	0.75317	0	0.648885	0.59868	0	.	.	5.38	5.38	0.77279	7.180000	0.77215	7.433000	0.58809	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:1.0:0.0:0.0	17.872	0.88730	957	0.09725	.	.	.	.	.	.	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	197.36	57	chr15	92630248	.	C	T	197.36	.	AC=1;AF=0.167;AN=6;BaseQRankSum=-2.606;DP=417;ExcessHet=0;FS=98.559;MLEAC=1;MLEAF=0.167;MQ=60;MQRankSum=0;QD=1.88;ReadPosRankSum=-0.126;SOR=5.545	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:90,15:105:99:0|1:92630242_C_G:204,0,3687:92630242	2	0	1	4
chr15	92630251	92630251	C	T	exonic	FAM174B	.	nonsynonymous SNV	FAM174B:NM_207446:exon2:c.G439A:p.E147K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.220	0.0657453982676	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.014	0.62352	D	0.939	0.52645	P	0.579	0.50152	P	0.000897	0.41231	D	0.159409	0.663107	0.52396	D	2.215	0.62545	M	0.5	0.55608	T	-3.36	0.66549	D	0.567	0.59053	-0.2870	0.75348	T	0.317	0.68629	T	10	0.6110569	0.67446	D	0.065745	0.69670	D	0.249	0.55752	0.538	0.64874	0.0806252709748	0.07271	0.5044295358613299	0.50364	1.13977541105	0.78881	0.576099395752	0.49536	T	0.072488	0.34467	T	0.00226496	0.51966	T	-0.234523	0.51332	T	0.989400923252106	0.79642	D	0.931007	0.74365	D	0.3660051	0.58288	0.32321736	0.58255	0.3660051	0.58289	0.32321736	0.58254	-12.163	0.85636	D	.	.	0.540	0.66364	A	.	.	5.085761	0.84900	28.4	0.98668534088134341	0.44442	0.86267	0.45514	D	AEFGBHCI	0.824876	0.74468	D	0.469250708575804	0.65304	4.805603	0.532037325251832	0.70157	5.464143	1.0	0.98316	0.730579	0.87903	0	0.696144	0.67643	0	0.709663	0.75317	0	0.648885	0.59868	0	.	.	5.38	5.38	0.77279	7.180000	0.77215	7.433000	0.58809	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:1.0:0.0:0.0	17.872	0.88730	957	0.09725	.	.	.	.	.	.	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	187.52	40	chr15	92630251	.	C	T	187.52	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-3.703;DP=420;ExcessHet=0;FS=99.878;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=1.75;ReadPosRankSum=0.415;SOR=5.545	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:92,15:107:99:0|1:92630242_C_G:198,0,3754:92630242	6	0	1	0
chr15	92630254	92630254	C	T	exonic	FAM174B	.	nonsynonymous SNV	FAM174B:NM_207446:exon2:c.G436A:p.D146N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.144	0.0239686996981	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.51248	D	0.026	0.55759	D	0.997	0.70673	D	0.918	0.65394	D	0.000036	0.55875	D	0.068504	0.997075	0.43612	D	2.31	0.66127	M	-0.25	0.67011	T	-3.85	0.72353	D	0.644	0.65587	-0.8108	0.54502	T	0.217	0.57902	T	10	0.70807624	0.72866	D	0.023969	0.46950	T	0.333	0.65522	0.492	0.57890	0.126345400529	0.12197	0.6364352983231589	0.63577	1.12360715339	0.78375	0.610536158085	0.54391	T	0.171364	0.51947	T	-0.00291733	0.51252	T	-0.241967	0.50606	T	0.994988739490509	0.86633	D	0.926807	0.73035	D	0.28633583	0.51650	0.23901767	0.49240	0.28633583	0.51650	0.23901767	0.49239	-7.127	0.54955	T	.	.	0.244	0.47859	B	.	.	4.708179	0.75603	26.4	0.98500546622593532	0.42216	0.79868	0.39664	D	AEFGBHCI	0.699485	0.65681	D	0.424550699294709	0.62776	4.499147	0.479078087077324	0.66606	4.973943	0.99999999999994	0.74766	0.730579	0.87903	0	0.696144	0.67643	0	0.709663	0.75317	0	0.648885	0.59868	0	.	.	5.38	5.38	0.77279	5.330000	0.65675	5.751000	0.49627	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.1627:0.8373:0.0:0.0	12.920	0.57621	957	0.09725	.	.	.	.	.	.	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	149.63	40	chr15	92630254	.	C	T	149.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-3.326;DP=370;ExcessHet=0;FS=88.426;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=1.43;ReadPosRankSum=0.735;SOR=5.278	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:92,13:105:99:0|1:92630242_C_G:160,0,3760:92630242	6	0	1	0
chr15	99712531	99712539	GCAGCAGCC	-	exonic	MEF2A	.	nonframeshift deletion	MEF2A:NM_001130928:exon8:c.1050_1058del:p.Q351_P353del,MEF2A:NM_001130926:exon10:c.1254_1262del:p.Q419_P421del,MEF2A:NM_001130927:exon10:c.1074_1082del:p.Q359_P361del,MEF2A:NM_001365206:exon10:c.1272_1280del:p.Q425_P427del,MEF2A:NM_001365207:exon10:c.1260_1268del:p.Q421_P423del,MEF2A:NM_001352616:exon11:c.1278_1286del:p.Q427_P429del,MEF2A:NM_001352617:exon11:c.1260_1268del:p.Q421_P423del,MEF2A:NM_001352618:exon11:c.1272_1280del:p.Q425_P427del,MEF2A:NM_001365202:exon11:c.1296_1304del:p.Q433_P435del,MEF2A:NM_001365204:exon11:c.1284_1292del:p.Q429_P431del,MEF2A:NM_001365205:exon11:c.1278_1286del:p.Q427_P429del,MEF2A:NM_001365208:exon11:c.1254_1262del:p.Q419_P421del,MEF2A:NM_001365209:exon11:c.1074_1082del:p.Q359_P361del,MEF2A:NM_005587:exon11:c.1260_1268del:p.Q421_P423del,MEF2A:NM_001171894:exon12:c.1254_1262del:p.Q419_P421del,MEF2A:NM_001319206:exon12:c.1278_1286del:p.Q427_P429del,MEF2A:NM_001352614:exon12:c.1254_1262del:p.Q419_P421del,MEF2A:NM_001365201:exon12:c.1296_1304del:p.Q433_P435del,MEF2A:NM_001365203:exon12:c.1284_1292del:p.Q429_P431del,MEF2A:NM_001352615:exon13:c.1254_1262del:p.Q419_P421del	.	382	1132	6	0	2	8	0.00264317	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1690	0.00559105	0.0053	0.0120	0.0140	0.0534	0.0055	0.0014	0.0094	0.0038	0.0011142	29	26028	rs560400205	0.0039	0.0038	0.0039	0.0039	0.0575	0.0038	0.0038	0.0554	0.0546	0.0094	0.0256	0.0035	0.0575	0.0061	0.0028	0.0010	0.0059	0.0043	0.0070	0.0071	0.0065	0.0076	0.0462	0.0067	0.0065	0.0413	0.0394	0.0091	0	0.0183	0.0032	0.0462	0.0044	0.0035	0.0011	0.0091	0.0051	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1204.79	44	chr15	99712530	.	AGCAGCAGCC	A	1204.79	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.699;DP=376;ExcessHet=0;FS=0.859;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.45;ReadPosRankSum=0.622;SOR=0.727	GT:AD:DP:GQ:PL	0/1:42,36:78:99:1215,0,1479	6	0	1	0
chr16	659102	659102	G	A	exonic	WDR90	.	nonsynonymous SNV	WDR90:NM_145294:exon25:c.G3028A:p.G1010R	.	0	225	1	0	0	1	0.00221729	.	.	.	3630097	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.055	0.0146662061315	8.2e-05	.	4.19e-05	0	8.66e-05	0	0	6.097e-05	0	0	3.23e-05	5	154602	rs374635744	1.507e-05	1.505e-05	1.363e-05	1.652e-05	0.0003	9.86e-06	8.42e-06	6.092e-05	2.521e-05	5.975e-05	2.236e-05	0	7.557e-05	1.931e-05	0.0003	8.993e-06	4.969e-05	0	3.287e-05	3.284e-05	3.855e-05	2.692e-05	6.546e-05	1.261e-05	7.98e-06	8e-06	2.99e-06	4.829e-05	0	6.546e-05	0	0	0	0	2.941e-05	0	0	0.698	0.04200	T	0.695	0.05863	T	0.001	0.09854	B	0.001	0.04355	B	0.876533	0.08787	N	0.938108	1	0.08975	N	0.805	0.20218	L	1.6	0.29085	T	-0.16	0.09460	N	0.124	0.11626	-0.9668	0.37854	T	0.070	0.28740	T	10	0.049434245	0.04533	T	0.014666	0.34938	T	0.055	0.15663	0.268	0.21576	0.101711395817	0.09552	0.23400322897707682	0.23315	0.136156359359	0.15352	0.296305567026	0.09852	T	0.003549	0.02960	T	-0.436596	0.01354	T	-0.734466	0.04128	T	0.0299603781666967	0.01984	T	0.453055	0.12870	T	0.029235467	0.02385	0.041548662	0.04748	0.029235467	0.02385	0.041548662	0.04748	-2.855	0.08701	T	.	.	0.095	0.14797	B	.;.	.;.	-0.404236	0.02198	0.218	0.553218540249794	0.05318	0.01529	0.05035	N	AEFBI	0.046866	0.07830	N	-1.37431284046135	0.02880	0.1278397	-1.52495041818464	0.02153	0.09861263	0.975237543956556	0.29615	0.660377	0.49826	0	0.694456	0.67091	0	0.723109	0.80598	0	0.491896	0.07777	0	.	.	3.17	-4.2	0.03562	-1.690000	0.02023	-3.486000	0.02750	-0.244000	0.07312	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.6563:0.0:0.3437:0.0	11.347	0.48809	654	0.62520	.;.	.	.	.	.	.	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	1683.44	49	chr16	659102	.	G	A	1683.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.357;DP=488;ExcessHet=0;FS=1.364;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.47;ReadPosRankSum=0.013;SOR=0.573	GT:AD:DP:GQ:PL	0/1:62,73:135:99:1694,0,1432	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|1:0,20:33:99:1|0:1397263_TCCCCGTGCTTCACACTGGGGCAGGGCGTGGACCTGGGGATGAGGAGGTGTCAGGGGGACACAGAGGACTTGGCTCCCCGCCCCCCAC_T:2778,617,425:1397263	0	3	3	1
chr16	2115565	2115565	G	A	exonic	PKD1	.	nonsynonymous SNV	PKD1:NM_000296:exon10:c.C1910T:p.A637V,PKD1:NM_001009944:exon10:c.C1910T:p.A637V	Polycystic kidney disease, adult type I, Autosomal dominant	511	978	33	0	0	33	0.0165913	.	.	.	1867778	Polycystic_kidney_disease,_adult_type	MONDO:MONDO:0008263,MedGen:C3149841,OMIM:173900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.013	0.0534633280181	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1324355778	4.171e-06	0.0001	6.913e-06	1.398e-06	1.819e-06	1.5e-06	9.9e-07	3e-07	1.1e-07	0	0	3.886e-05	0	5.971e-05	0	1.819e-06	0	0	2.655e-05	0.0003	1.297e-05	4.08e-05	0.0002	8.2e-06	5.18e-06	.	.	2.445e-05	0	6.594e-05	0	0	0	0	1.484e-05	0	0.0002	0.546	0.06669	T	1.0	0.01155	T	0.007	0.14184	B	0.004	0.12133	B	0.431197	0.12746	N	0.741456	1	0.08975	N	0.64	0.16041	N	1.3	0.35590	T	-0.32	0.12283	N	0.066	0.03841	-0.9771	0.35660	T	0.051	0.21883	T	10	0.047445476	0.04062	T	0.053463	0.65479	D	0.013	0.01715	0.209	0.12639	0.340919117937	0.33698	0.20406219076281423	0.20323	.	.	0.288482248783	0.08702	T	0.152567	0.49302	T	-0.323373	0.06626	T	-0.702279	0.05702	T	0.0417249462178994	0.04004	T	0.339066	0.07293	T	0.018118778	0.00334	0.028770795	0.01144	0.018118778	0.00334	0.028770795	0.01144	-4.194	0.26665	T	0.1049183383087965	0.08259	0.076	0.05845	B	.;.	.;.	-0.438832	0.02071	0.191	0.74349038070323958	0.10662	0.01644	0.05287	N	AEFBI	0.049109	0.08451	N	-1.78608120196869	0.00580	0.02499262	-1.83827809865499	0.00644	0.02863882	0.348052764701403	0.19653	0.646311	0.45356	0	0.653731	0.59785	0	0.645312	0.48771	0	0.635551	0.53088	0	.	.	4.9	-3.83	0.03988	-0.439000	0.06967	0.727000	0.21057	-1.633000	0.00850	0.000000	0.06391	0.003000	0.18671	0.000000	0.00833	0.434:0.0934:0.4726:0.0	9.138	0.36047	650	0.62973	Polycystin cation channel;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1429	39.42	35	chr16	2115565	.	G	A	39.42	.	AC=2;AF=0.143;AN=14;BaseQRankSum=2.37;DP=310;ExcessHet=0.3476;FS=32.434;MLEAC=2;MLEAF=0.143;MQ=51.16;MQRankSum=-4.414;QD=0.25;ReadPosRankSum=-2.322;SOR=4.957	GT:AD:DP:GQ:PL	0/1:63,7:70:19:19,0,1605	5	0	2	0
chr16	2173187	2173187	C	T	exonic	TRAF7	.	nonsynonymous SNV	TRAF7:NM_032271:exon10:c.C800T:p.T267M	.	.	.	.	.	.	.	.	.	.	.	2393095	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.172	0.0225916361302	0.0002	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs373051088	4.124e-06	4.104e-06	4.101e-06	4.147e-06	2.536e-05	1.48e-06	9.8e-07	3.89e-06	1.46e-06	0	0	0	2.536e-05	0	0	1.802e-06	1.663e-05	2.341e-05	1.974e-05	1.971e-05	1.286e-05	2.694e-05	0.0002	5.25e-06	2.46e-06	8.01e-06	3e-06	4.834e-05	0	0	0	0	0	0	0	0	0.0002	0.139	0.25768	T	0.167	0.30729	T	0.537	0.37852	P	0.295	0.40843	B	0.000000	0.84330	D	0.050060	1	0.81001	D	1.32	0.33002	L	1.71	0.26737	T	-1.08	0.28084	N	0.637	0.64989	-1.0786	0.07622	T	0.070	0.28708	T	10	0.5369108	0.63500	D	0.022592	0.45493	T	0.172	0.43662	.	.	0.497741790239	0.49410	0.7610307432009717	0.76051	1.46662889	0.86454	0.769124746323	0.77293	T	0.173255	0.52206	T	-0.20985	0.19400	T	-0.356444	0.38463	T	0.60656726360321	0.36662	D	0.871013	0.57621	D	0.14861539	0.33921	0.121574536	0.29333	0.14861539	0.33921	0.121574536	0.29332	-8.203	0.62445	D	.	.	0.103	0.18331	B	.	.	3.756508	0.53871	23.4	0.99728739555453061	0.82619	0.98482	0.83244	D	AEFBI	0.942101	0.94623	D	0.295802696341764	0.55936	3.757697	0.373022606697222	0.59905	4.172684	0.999999999960653	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.6	4.6	0.56512	7.822000	0.84804	2.696000	0.34125	0.599000	0.40250	1.000000	0.71638	0.989000	0.31174	0.695000	0.33988	0.0:1.0:0.0:0.0	16.578	0.84557	629	0.65079	Zinc finger, TRAF-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	1299.63	33	chr16	2173187	.	C	T	1299.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.96;DP=278;ExcessHet=0;FS=4.094;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.26;ReadPosRankSum=0.252;SOR=1.161	GT:AD:DP:GQ:PL	0/1:50,48:98:99:1310,0,1229	6	0	1	0
chr16	5033360	5033360	A	G	exonic	NAGPA	.	nonsynonymous SNV	NAGPA:NM_016256:exon2:c.T455C:p.V152A	.	418	1097	7	0	0	7	0.00318037	.	.	.	2347270	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.099	0.0297701984017	0.0005	.	0.0004	0.0003	9.414e-05	0	0.0006	0.0005	0	0.0002	0.0002458	38	154602	rs189630368	0.0002	0.0002	0.0002	0.0002	0.0037	0.0002	0.0002	0.0025	0.0021	2.99e-05	0.0001	3.831e-05	0	0.0005	0.0037	0.0002	0.0003	0.0003	0.0003	0.0003	0.0002	0.0005	0.0004	0.0002	0.0002	0.0003	0.0002	9.638e-05	0	0.0002	0	0	0.0009	0.0068	0.0004	0.0009	0.0004	0.002	0.72154	D	0.004	0.74150	D	0.982	0.60036	D	0.82	0.59072	P	0.010597	0.29863	N	0.321361	0.579819	0.31109	N	2.27	0.64531	M	1.27	0.36146	T	-3.5	0.68178	D	0.285	0.42443	-0.8085	0.54641	T	0.130	0.43989	T	10	0.12089977	0.22909	T	0.02977	0.52214	D	0.099	0.28413	.	.	0.36453787251	0.36064	0.7888937185436866	0.78841	0.892434076993	0.70274	0.714099824429	0.69187	T	0.725599	0.92279	D	-0.350144	0.04718	T	-0.393563	0.34135	T	0.0808357773658808	0.10093	T	0.893711	0.63166	D	0.43018097	0.62764	0.48477352	0.70176	0.43018097	0.62765	0.48477352	0.70176	-9.552	0.71684	D	.	.	0.440	0.67013	A	.;.	.;.	4.937271	0.81456	27.6	0.99688983829227673	0.79775	0.51418	0.28891	D	AEFDGBCI	0.637318	0.61615	D	0.126779434557327	0.47715	2.993331	0.191742262020659	0.49392	3.143062	0.999999999814813	0.74766	0.652421	0.48094	0	0.748881	0.99253	0	0.503968	0.08637	0	0.604282	0.37693	0	.	.	4.77	3.65	0.40985	6.677000	0.74337	7.864000	0.71599	0.733000	0.85838	1.000000	0.71638	1.000000	0.68203	0.935000	0.47363	0.8982:0.0:0.1018:0.0	7.876	0.28760	867	0.32089	Phosphodiester glycosidase;.	.	.	.	.	.	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	0.001013	0.000000	0.001362	0.000000	0.000000	0.000000	0.006211	0.000000	0.07143	910.45	38	chr16	5033360	.	A	G	910.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.264;DP=295;ExcessHet=0;FS=1.591;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.51;ReadPosRankSum=-0.318;SOR=0.514	GT:AD:DP:GQ:PL	0/1:64,43:107:99:921,0,1582	6	0	1	0
chr16	11411272	11411272	G	C	exonic	LOC400499	.	nonsynonymous SNV	LOC400499:NM_001370704:exon46:c.C6928G:p.P2310A	.	832	688	2	0	0	2	0.00145138	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000798722	0.0014	0	0.0114	0	0	0.0012	0	0	0.0005563	86	154602	rs113673618	0.0026	0.0011	0.0027	0.0025	0.0031	0.0024	0.0024	0.0015	0.0014	0.0004	0.0005	0.0327	0	0.0002	0.0031	0.0016	0.0038	0.0013	0.0020	0.0020	0.0020	0.0020	0.0022	0.0018	0.0017	0.0016	0.0014	0.0003	0	0.0022	0.0401	0	0.0003	0	0.0016	0.0019	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004163742	0.00082	T	.	.	.	.	.	.	.	0.497280371566	0.49363	.	.	.	.	.	.	.	.	.	.	-0.521553	0.00431	T	-0.522789	0.20012	T	.	.	.	0.463154	0.13467	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.334	0.55521	B	.	.	2.787204	0.36630	20.3	0.57396105513439233	0.05760	0.51169	0.28833	D	AEFDGBHI	0.064846	0.12615	N	.	.	.	.	.	.	0.999999984255165	0.74766	0.706298	0.61202	0	0.547309	0.14657	0	0.709663	0.75317	0	0.567892	0.33627	0	.	.	3.56	3.56	0.39892	3.135000	0.50241	4.719000	0.44495	0.590000	0.31872	0.746000	0.29090	1.000000	0.68203	0.006000	0.07323	0.0:0.0:1.0:0.0	10.982	0.46716	940	0.13648	.	.	.	.	.	.	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	531.83	34	chr16	11411272	.	G	C	531.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.17;DP=238;ExcessHet=0;FS=0.939;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.71;ReadPosRankSum=1.32;SOR=0.873	GT:AD:DP:GQ:PL	0/1:42,27:69:99:542,0,958	6	0	1	0
chr16	11927475	11927475	G	0	exonic	NPIPB2	.	.	.	.	1	10	87	120	8	335	0.942363	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	15944.5	149	chr16	11927475	.	G	*	15944.5	.	AC=3;AF=0.214;AN=14;BaseQRankSum=2.05;DP=856;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=19.83;ReadPosRankSum=0.428;SOR=0.709	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,57:135:99:1|0:11927441_GTTCCACCTCAGCGGCCCTCCGCCTCTTGGGTTCGGGTGGTGA_G:4431,2325,3038:11927441	5	1	1	0
chr16	14447062	14447062	C	T	exonic	PARN	.	nonsynonymous SNV	PARN:NM_001242992:exon22:c.G1552A:p.V518I,PARN:NM_001134477:exon23:c.G1507A:p.V503I,PARN:NM_002582:exon23:c.G1690A:p.V564I	Dyskeratosis congenita, autosomal recessive 6, Autosomal recessive;Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, Autosomal dominant	431	1041	48	2	0	52	0.0243674	.	.	.	429763	not_provided|Dyskeratosis_congenita,_autosomal_recessive_6|Pulmonary_fibrosis_and/or_bone_marrow_failure,_Telomere-related,_4|not_specified	MedGen:C3661900|MONDO:MONDO:0014600,MedGen:C4225356,OMIM:616353|MONDO:MONDO:0014612,MedGen:C4225347,OMIM:616371,Orphanet:2032|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.119	.	0.0073	0.00599042	0.0092	0.0011	0.0038	0	0.0020	0.0106	0.0090	0.0199	0.0090361	1397	154602	rs35722504	0.0094	0.0094	0.0091	0.0097	0.0175	0.0092	0.0092	0.0166	0.0163	0.0012	0.0037	0.0210	5.039e-05	0.0019	0.0175	0.0096	0.0102	0.0173	0.0067	0.0067	0.0069	0.0066	0.0203	0.0064	0.0063	0.0170	0.0158	0.0017	0	0.0066	0.0193	0	0.0015	0.0170	0.0095	0.0099	0.0203	0.079	0.38863	T	0.212	0.26714	T	0.006	0.13644	B	0.006	0.12133	B	0.044615	0.01935	N	2.052200	1	0.08975	N	0.805	0.20218	L	.	.	.	-0.42	0.14193	N	0.054	0.06322	-0.9948	0.31352	T	0.063	0.26065	T	9	0.002854675	0.00046	T	.	.	.	0.119	0.33137	.	.	0.193865811164	0.18958	0.0963495934639145	0.09566	0.110193835077	0.12434	0.251484751701	0.03926	T	0.021653	0.16823	T	-0.615878	0.00117	T	-0.643162	0.09441	T	0.00869064704499961	0.00107	T	0.650635	0.26150	T	0.038499925	0.05140	0.05202924	0.08493	0.036931377	0.04637	0.04864813	0.07268	-4.677	0.36381	T	.	.	0.070	0.04806	B	.;.;.;.	.;.;.;.	1.351161	0.17589	13.25	0.98114141245208752	0.38375	0.11818	0.16881	N	AEFDBI	0.033924	0.04112	N	-0.586871005853647	0.19342	1.011559	-0.481498412176652	0.22663	1.232	0.999999520260864	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.41	4.45	0.53365	0.727000	0.25667	0.255000	0.16475	0.599000	0.40250	0.002000	0.15269	0.000000	0.08366	0.998000	0.85391	0.0:0.8472:0.1528:0.0	13.809	0.62745	923	0.18507	.;.;.;.	.	.	.	.	rs35722504	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	0.010101	0.006793	0.002924	0.200000	0.025862	0.027607	0.022727	0.07143	603.63	35	chr16	14447062	.	C	T	603.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.574;DP=248;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.58;ReadPosRankSum=-0.159;SOR=0.575	GT:AD:DP:GQ:PL	0/1:34,29:63:99:614,0,856	6	0	1	0
chr16	14582206	14582206	G	C	exonic	PARN	.	nonsynonymous SNV	PARN:NM_001242992:exon16:c.C1029G:p.C343W,PARN:NM_001134477:exon17:c.C984G:p.C328W,PARN:NM_002582:exon17:c.C1167G:p.C389W	Dyskeratosis congenita, autosomal recessive 6, Autosomal recessive;Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.641	0.443768951762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0022	0.0008	0.0006	0.0009	0.0007	0.0007	0.0008	0.0008	0.0005	4.476e-05	0.0001	0.0003	0	0.0002	0.0009	0.0006	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	2.815	0.81989	M	1.91	0.47477	T	-9.08	0.98168	D	0.906	0.93370	-0.6388	0.63197	T	0.257	0.62766	T	10	0.95576084	0.94937	D	0.443769	0.94214	D	0.641	0.86333	0.808	0.92512	0.389283895039	0.38539	0.7594861977466015	0.75896	0.721414007513	0.62234	0.886558771133	0.94825	D	0.366013	0.73134	T	0.23211	0.76920	D	0.0956334	0.76619	D	0.997612833976746	0.91988	D	0.970303	0.89317	D	0.96886563	0.98153	0.88045895	0.93594	0.96886563	0.98153	0.88045895	0.93594	-17.118	0.99008	D	.	.	0.999	0.98765	P	.;.;.;.	.;.;.;.	3.616746	0.51161	23.1	0.9928480025877614	0.58043	0.87022	0.46439	D	AEFBI	0.686411	0.64809	D	0.0378907468480801	0.43587	2.648657	-0.0492109747885764	0.37524	2.19827	0.0661472356186695	0.15384	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.81	0.019	0.13441	0.292000	0.18766	1.715000	0.28221	-0.681000	0.04224	0.982000	0.35529	1.000000	0.68203	0.977000	0.56843	0.4191:0.0:0.5809:0.0	11.520	0.49794	731	0.54177	.;.;.;.	.	.	.	.	.	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	551.23	39	chr16	14582206	.	G	C	551.23	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-2.814;DP=853;ExcessHet=3.1439;FS=358.834;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=0.89;ReadPosRankSum=1.7;SOR=11.434	GT:AD:DP:GQ:PL	0/1:123,84:228:99:357,0,1591	2	0	4	1
chr16	14667708	14667711	CCCC	-	exonic	BFAR	.	frameshift deletion	BFAR:NM_001330500:exon6:c.859_862del:p.P287Sfs*45,BFAR:NM_016561:exon8:c.1234_1237del:p.P412Sfs*45	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	509.4	33	chr16	14667707	.	GCCCC	G	509.4	.	AC=2;AF=0.143;AN=14;BaseQRankSum=2.08;DP=285;ExcessHet=0.3476;FS=60.878;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=3.8;ReadPosRankSum=0.563;SOR=6.439	GT:AD:DP:GQ:PL	0/1:57,20:77:99:416,0,2218	5	0	2	0
chr16	14667711	14667711	-	TGGG	exonic	BFAR	.	frameshift insertion	BFAR:NM_001330500:exon6:c.862_863insTGGG:p.I289Gfs*18,BFAR:NM_016561:exon8:c.1237_1238insTGGG:p.I414Gfs*18	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	435.86	32	chr16	14667711	.	C	CTGGG	435.86	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.64;DP=287;ExcessHet=0.4139;FS=69.45;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=3.66;ReadPosRankSum=0.847;SOR=6.725	GT:AD:DP:GQ:PL	0/1:57,16:76:99:378,0,2236	4	0	2	1
chr16	19479501	19479501	A	T	exonic	TMC5	.	nonsynonymous SNV	TMC5:NM_024780:exon10:c.A1502T:p.N501I,TMC5:NM_001308161:exon13:c.A2084T:p.N695I,TMC5:NM_001105248:exon14:c.A2240T:p.N747I,TMC5:NM_001105249:exon14:c.A2240T:p.N747I,TMC5:NM_001261841:exon14:c.A2240T:p.N747I	.	431	1089	2	0	0	2	0.000917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.178	0.0454276026995	.	.	0.0003	0	0	0	0.0045	0.0001	0.0022	0	0.0002781	43	154602	rs201645334	0.0002	0.0002	0.0002	0.0002	3.598e-05	0.0002	0.0002	2.711e-05	2.387e-05	0	2.236e-05	0	2.519e-05	0.0043	0	3.598e-05	0.0001	1.159e-05	0.0003	0.0003	0.0002	0.0004	0.0006	0.0002	0.0002	0.0002	8.384e-05	0	0	0	0	0.0006	0.0029	0	0.0002	0	0	0.07	0.78490	T	0.005	0.72224	D	0.654	0.40793	P	0.431	0.45421	B	0.000007	0.62929	D	0.109462	0.998888	0.22380	N	0.505	0.13445	N	-0.02	0.62918	T	-4.27	0.76254	D	0.413	0.46462	-1.0019	0.29372	T	0.119	0.41778	T	10	0.01839292	0.00400	T	0.045428	0.61974	D	0.178	0.44724	.	.	0.740924283683	0.73860	0.419552577437763	0.41871	0.310988398923	0.33403	0.385811209679	0.23077	T	0.06673	0.41383	T	-0.331318	0.06012	T	-0.381627	0.35533	T	0.158808069242115	0.17783	T	0.906109	0.66926	D	0.3388983	0.56192	0.29463214	0.55494	0.3388983	0.56192	0.29463214	0.55493	-8.214	0.62519	D	.	.	0.173	0.38889	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.382835	0.46799	22.4	0.98814498681986263	0.46672	0.57773	0.30465	D	AEFDGHCIJ	0.544930	0.55965	D	-0.237744318093152	0.31596	1.773226	-0.0703949181989375	0.36621	2.13349	0.999965858200935	0.48965	0.487112	0.14033	0	0.573888	0.26702	0	0.550215	0.18615	0	0.564101	0.26826	0	.	.	5.15	5.15	0.70287	3.313000	0.51645	9.237000	0.79396	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.540000	0.29938	0.7816:0.0:0.2184:0.0	5.938	0.18413	579	0.69780	TMC domain;.;TMC domain;TMC domain;.;.;TMC 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	1473.83	36	chr16	19479501	.	A	T	1473.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.423;DP=307;ExcessHet=0;FS=2.197;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.17;ReadPosRankSum=-0.114;SOR=0.902	GT:AD:DP:GQ:PL	0/1:68,64:132:99:1484,0,1582	6	0	1	0
chr16	20373106	20373106	C	A	exonic	PDILT	.	nonsynonymous SNV	PDILT:NM_174924:exon6:c.G698T:p.R233L	.	430	1085	7	0	0	7	0.00321543	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.0142129705642	0.0022	0.00179712	0.0016	0.0007	0.0016	0	0	0.0022	0	0.0011	0.0016429	254	154602	rs141043720	0.0026	0.0026	0.0027	0.0025	0.0029	0.0025	0.0025	0.0028	0.0028	0.0006	0.0027	0.0041	0	0.0002	0.0021	0.0029	0.0036	0.0008	0.0022	0.0022	0.0021	0.0022	0.0045	0.0020	0.0019	0.0037	0.0033	0.0010	0	0.0045	0.0055	0	9.43e-05	0	0.0027	0.0043	0.0017	0.417	0.09927	T	0.658	0.06554	T	0.006	0.13644	B	0.008	0.13708	B	0.054324	0.22734	N	0.498124	0.73755	0.29767	N	1.98	0.53716	M	1.47	0.31987	T	-1.66	0.39692	N	0.424	0.46368	-1.0841	0.06572	T	0.040	0.17319	T	10	0.010000765	0.00224	T	0.014213	0.34172	T	0.047	0.12962	.	.	0.381239546501	0.37731	0.7327345035719722	0.73218	0.106597910397	0.12050	0.372932136059	0.21252	T	0.00379	0.03201	T	-0.499173	0.00578	T	-0.495042	0.22864	T	0.0161349629279246	0.00390	T	0.79822	0.44280	T	0.15680262	0.35366	0.10329144	0.24779	0.15680262	0.35366	0.10329144	0.24778	-2.004	0.03196	T	.	.	0.243	0.47784	B	.	.	2.881232	0.38127	20.7	0.72555988300699381	0.10014	0.56367	0.30099	D	AEFHI	0.115195	0.22659	N	-0.259018074927117	0.30745	1.717192	-0.140302812595262	0.33784	1.936184	0.00450493708491616	0.10591	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.82	3.8	0.42887	1.260000	0.32571	3.067000	0.36184	0.599000	0.40250	1.000000	0.71638	0.997000	0.33255	0.946000	0.48989	0.2293:0.7707:0.0:0.0	9.349	0.37291	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	0.002014	0.010101	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.07143	1812.44	34	chr16	20373106	.	C	A	1812.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.2;DP=353;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.48;ReadPosRankSum=0.222;SOR=0.67	GT:AD:DP:GQ:PL	0/1:98,75:173:99:1823,0,2217	6	0	1	0
chr16	20737101	20737101	G	C	exonic	THUMPD1	.	nonsynonymous SNV	THUMPD1:NM_001304550:exon4:c.C841G:p.Q281E,THUMPD1:NM_017736:exon4:c.C841G:p.Q281E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.00285740318859	.	.	1.647e-05	0	0	0	0	2.997e-05	0	0	1.94e-05	3	154602	rs768847117	4.104e-06	4.104e-06	4.084e-06	4.125e-06	4.496e-06	1.48e-06	9.7e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.496e-06	1.656e-05	0	6.574e-06	6.568e-06	1.285e-05	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0005	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.298418	0.14642	N	0.673180	1	0.08975	N	1.39	0.34934	L	1.05	0.39990	T	0.53	0.02808	N	0.022	0.00372	-0.9936	0.31670	T	0.073	0.29643	T	10	0.058152318	0.06792	T	0.002857	0.06015	T	0.084	0.24469	.	.	0.661647421419	0.65881	0.10707710537152144	0.10637	0.205172797942	0.22937	0.237878873944	0.02602	T	0.013199	0.11459	T	-0.299118	0.08743	T	-0.651953	0.08819	T	0.0494298610442217	0.05400	T	0.615438	0.23533	T	0.05462891	0.10506	0.052168693	0.08543	0.05462891	0.10506	0.052168693	0.08542	-1.865	0.02710	T	.	.	0.054	0.00341	B	.;.	.;.	2.026905	0.25760	16.88	0.60770788054278957	0.06544	0.62793	0.31889	D	AEFBCI	0.069099	0.13661	N	-0.429354950551627	0.24445	1.319979	-0.275728812295351	0.28901	1.614951	0.996839349727263	0.35047	0.719381	0.83141	0	0.723133	0.82719	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.92	3.88	0.43959	2.798000	0.47578	5.059000	0.47069	0.676000	0.76740	0.995000	0.38783	1.000000	0.68203	0.647000	0.32611	0.0:0.2065:0.5475:0.2461	9.716	0.39442	184	0.92813	.;.	.	.	.	.	.	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	2613.83	33	chr16	20737101	.	G	C	2613.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.553;DP=365;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.68;ReadPosRankSum=1.81;SOR=0.711	GT:AD:DP:GQ:PL	0/1:91,100:191:99:2624,0,2311	6	0	1	0
chr16	21204152	21204152	G	A	exonic	ZP2	.	nonsynonymous SNV	ZP2:NM_001376231:exon9:c.C850T:p.L284F,ZP2:NM_001376232:exon9:c.C850T:p.L284F,ZP2:NM_001376233:exon9:c.C850T:p.L284F,ZP2:NM_003460:exon10:c.C850T:p.L284F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.176	0.05098263785	.	.	8.24e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs766463382	2.052e-06	2.052e-06	2.722e-06	1.375e-06	2.236e-05	5.5e-07	1.5e-07	.	.	0	2.236e-05	0	0	0	0	8.993e-07	1.656e-05	0	6.57e-06	6.567e-06	0	1.345e-05	6.547e-05	0	0	.	.	0	0	6.547e-05	0	0	0	0	0	0	0	.	.	.	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.001475	0.38917	N	0.104955	0.999993	0.08975	N	2.865	0.83145	M	0.56	0.54540	T	.	.	.	0.437	0.47580	-0.5811	0.65574	T	0.321	0.69030	T	10	0.30229563	0.47767	T	0.050983	0.64471	D	.	.	0.413	0.45052	0.730984303034	0.72859	0.6214025754533569	0.62073	0.395001678641	0.40653	0.524103164673	0.42204	T	0.428963	0.77792	T	-0.219538	0.18055	T	-0.377281	0.36041	T	0.938934087753296	0.60997	D	.	.	.	0.38590676	0.59740	0.34824362	0.60467	0.38590676	0.59740	0.34824362	0.60466	-6.147	0.47687	T	.	.	0.331	0.55271	B	.;.	.;.	2.500098	0.32271	18.99	0.99708044258602724	0.81143	0.05535	0.11428	N	AEFBI	0.071766	0.14300	N	-0.276533539361495	0.30058	1.672458	-0.531125136452016	0.21310	1.152189	7.54356003051915E-4	0.07758	0.486886	0.10167	0	0.586423	0.34054	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	6.08	-2.78	0.05512	0.369000	0.20149	0.717000	0.20982	-0.135000	0.12811	0.091000	0.22601	0.945000	0.28875	0.493000	0.28859	0.4834:0.0:0.5166:0.0	13.898	0.63291	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	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1888.44	34	chr16	21204152	.	G	A	1888.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.463;DP=380;ExcessHet=0;FS=0.562;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.99;ReadPosRankSum=-0.547;SOR=0.769	GT:AD:DP:GQ:PL	0/1:110,79:189:99:1899,0,2970	6	0	1	0
chr16	22534374	22534374	C	G	exonic	NPIPB5	.	stopgain	NPIPB5:NM_001135865:exon7:c.C1391G:p.S464X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.933e-05	0	0	0	0	0	0	0.0003	3.84e-05	1	26028	rs747677843	0.0001	9.691e-05	0.0001	0.0001	0.0002	9.209e-05	8.388e-05	0.0001	0.0001	6.257e-05	0.0001	5.211e-05	3.211e-05	2.907e-05	0	0.0002	0.0002	0	0.0001	4.206e-05	0	0.0002	.	0	0	.	.	0	0	0	0	0	0.0010	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.058	0.21710	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.309886	0.83738	D	0.207354	0.83527	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;Tolerant;Tolerant;.;.	.;.;High;High;.;.	4.527157	0.71041	25.6	0.84623891498752202	0.15400	0.11643	0.16768	N	AEFI	0.069147	0.13673	N	0.0751502343111383	0.45305	2.789298	-0.3655873115617	0.26031	1.435271	3.32599492157723E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	.	.	.	0.908000	0.28167	-0.468000	0.08996	0.120000	0.17638	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	.	.	.	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	44.53	27	chr16	22534374	.	C	G	44.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.505;DP=199;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=38.54;MQRankSum=-0.195;QD=1.04;ReadPosRankSum=-0.739;SOR=0.023	GT:AD:DP:GQ:PL	0/1:38,5:43:55:55,0,1339	6	0	1	0
chr16	23535287	23535287	T	G	exonic	EARS2	.	nonsynonymous SNV	EARS2:NM_001083614:exon4:c.A559C:p.I187L,EARS2:NM_001308211:exon4:c.A559C:p.I187L	Combined oxidative phosphorylation deficiency 12, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.0162347117306	.	.	1.668e-05	0	0	0	0	3.026e-05	0	0	1.29e-05	2	154602	rs755098700	2.062e-06	2.052e-06	1.369e-06	2.763e-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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.015	0.63109	D	0.87	0.47827	P	0.718	0.54779	P	0.000027	0.55875	D	0.160659	0.848556	0.35183	D	1.395	0.35261	L	2.09	0.20122	T	-2.0	0.46146	N	0.378	0.42541	-1.0152	0.25272	T	0.068	0.27980	T	10	0.52011395	0.62593	D	0.016235	0.37399	T	0.086	0.25016	0.788	0.91068	0.321951552304	0.31805	0.6811492826131078	0.68053	0.386617777565	0.39955	0.375176310539	0.21571	T	0.557158	0.85111	D	-0.181188	0.23558	T	-0.482554	0.24175	T	0.386896133422852	0.28446	T	0.785921	0.42389	T	0.3378219	0.56105	0.2541111	0.51070	0.3378219	0.56105	0.2541111	0.51069	-6.119	0.47728	T	0.28038155981059715	0.37559	0.187	0.41449	B	.;.;.;.	.;.;.;.	1.990617	0.25293	16.71	0.98279256612110444	0.39833	0.34713	0.25132	N	AEFDBI	0.216113	0.34139	N	-0.335177031670045	0.27821	1.529474	-0.445407466664443	0.23680	1.292603	0.366600730887371	0.19829	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.636168	0.56350	0	.	.	5.56	0.885	0.18323	0.068000	0.14398	0.125000	0.14969	0.660000	0.55035	0.009000	0.18154	0.015000	0.20450	0.062000	0.16114	0.0:0.3608:0.0:0.6392	8.536	0.32527	309	0.87553	Glutamyl/glutaminyl-tRNA synthetase, class Ib, catalytic domain|Glutamyl-tRNA synthetase;Glutamyl/glutaminyl-tRNA synthetase, class Ib, catalytic domain|Glutamyl-tRNA synthetase;Glutamyl/glutaminyl-tRNA synthetase, class Ib, catalytic domain|Glutamyl-tRNA synthetase;.	.	.	.	.	.	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	2444.44	37	chr16	23535287	.	T	G	2444.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.307;DP=389;ExcessHet=0;FS=1.208;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.46;ReadPosRankSum=2.1;SOR=0.567	GT:AD:DP:GQ:PL	0/1:77,92:169:99:2455,0,2074	6	0	1	0
chr16	29862598	29862598	C	A	exonic	CDIPT	.	nonsynonymous SNV	CDIPT:NM_006319:exon2:c.G166T:p.A56S	.	385	1134	3	0	0	3	0.001321	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.0122534848787	.	.	3.435e-05	0	0	0	0	7.312e-05	0	0	6.5e-06	1	154602	rs746361355	3.504e-06	3.42e-06	1.389e-06	5.659e-06	0.0002	1.03e-06	7.5e-07	7.3e-07	2e-07	0	0	0	0	0	0.0002	2.741e-06	0	1.208e-05	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	0.389	0.11442	T	0.394	0.15506	T	0.188	0.29318	B	0.342	0.42471	B	0.000876	0.41335	D	0.272209	0.993942	0.81001	D	1.93	0.51437	L	1.07	0.39586	T	-1.0	0.26422	N	0.34	0.44474	-0.9789	0.35254	T	0.129	0.43747	T	10	0.30897215	0.48388	T	0.012253	0.30654	T	0.041	0.10877	0.33	0.31519	0.396794106654	0.39292	0.5130382639484812	0.51225	0.387549891034	0.40033	0.439069211483	0.30449	T	0.242474	0.61122	T	-0.116807	0.33647	T	-0.405562	0.32737	T	0.503852605819702	0.32770	D	0.960204	0.84976	D	0.17476985	0.38298	0.12456299	0.30022	0.17476985	0.38298	0.12456299	0.30021	-6.694	0.51765	T	.	.	0.168	0.37044	B	.;.;.;.	.;.;.;.	2.728825	0.35709	19.97	0.98918555655573281	0.48509	0.77977	0.38406	D	AEFDGBHCI	0.424937	0.48990	N	0.0740841156501208	0.45257	2.785203	0.197129241969243	0.49688	3.169168	0.999999999998759	0.74766	0.72623	0.87236	0	0.52208	0.09955	0	0.594344	0.31042	0	0.657601	0.63696	0	.	.	5.89	4.95	0.64894	2.246000	0.42794	0.574000	0.19636	0.599000	0.40250	1.000000	0.71638	0.967000	0.29559	0.990000	0.65344	0.0:0.7658:0.1534:0.0808	8.544	0.32573	242	0.90534	.;.;.;.	.	.	.	.	.	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	548.63	23	chr16	29862598	.	C	A	548.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.329;DP=200;ExcessHet=0;FS=1.12;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.97;ReadPosRankSum=-0.176;SOR=0.527	GT:AD:DP:GQ:PL	0/1:28,22:50:99:559,0,750	6	0	1	0
chr16	29905873	29905873	-	T	exonic	ASPHD1	.	frameshift insertion	ASPHD1:NM_181718:exon3:c.1150dupT:p.V385Cfs*54	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.422e-06	3.42e-06	2.724e-06	4.127e-06	4.498e-06	1e-06	7.3e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.498e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	972.79	35	chr16	29905873	.	C	CT	972.79	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.397;DP=250;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.15;ReadPosRankSum=-0.168;SOR=0.693	GT:AD:DP:GQ:PL	0/1:37,37:74:99:983,0,1039	6	0	1	0
chr16	29987216	29987216	G	C	exonic	TAOK2	.	nonsynonymous SNV	TAOK2:NM_016151:exon16:c.G2944C:p.G982R,TAOK2:NM_001252043:exon17:c.G2605C:p.G869R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.276	0.130649358497	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.162	0.33219	T	0.976	0.66517	D	0.55	0.64351	P	0.000156	0.49130	D	0.000000	1	0.81001	D	0.695	0.17993	N	-0.81	0.75108	T	-0.7	0.19933	N	0.457	0.63968	-0.5842	0.65451	T	0.348	0.71225	T	9	0.29028314	0.46609	T	0.130649	0.81283	D	0.276	0.59253	0.43	0.47843	0.400930682813	0.39710	0.4246051011271785	0.42377	1.31927576329	0.83411	0.709540426731	0.68527	T	0.155096	0.49668	T	0.0589924	0.59486	T	-0.153038	0.58973	T	0.694411695797167	0.40453	D	0.856614	0.54540	D	0.35485902	0.57443	0.34204224	0.59936	0.35485902	0.57443	0.34204224	0.59935	-3.662	0.18759	T	.	.	0.224	0.46677	B	.;.;.	.;.;.	4.060209	0.60248	24.2	0.99888394265609404	0.96281	0.96481	0.69353	D	AEFDBI	0.466961	0.51439	N	0.381499851225588	0.60421	4.230709	0.447930636120808	0.64582	4.716917	0.297310386543106	0.19152	0.646311	0.45356	0	0.653731	0.59785	0	0.645312	0.48771	0	0.635551	0.53088	0	.	.	4.79	4.79	0.60909	4.391000	0.59415	11.919000	0.99774	0.676000	0.76740	0.995000	0.38783	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	14.849	0.69914	77	0.96778	.;.;.	.	.	.	.	.	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	663.49	38	chr16	29987216	.	G	C	663.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.072;DP=251;ExcessHet=0;FS=8.555;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.05;ReadPosRankSum=-0.511;SOR=1.396	GT:AD:DP:GQ:PL	0/1:37,29:66:99:674,0,994	6	0	1	0
chr16	30006930	30006938	CCTGCTCCG	-	exonic	DOC2A	.	nonframeshift deletion	DOC2A:NM_001282068:exon8:c.725_733del:p.A242_Q244del,DOC2A:NM_003586:exon8:c.725_733del:p.A242_Q244del,DOC2A:NM_001282062:exon9:c.725_733del:p.A242_Q244del,DOC2A:NM_001282063:exon9:c.725_733del:p.A242_Q244del	.	356	1163	3	0	0	3	0.00128811	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0021	.	0.0009	0.0004	0	0	0.0003	0.0010	0.0012	0.0019	1.94e-05	3	154602	rs749863198	0.0009	0.0009	0.0009	0.0010	0.0019	0.0009	0.0009	0.0016	0.0016	0.0004	0.0001	0.0001	2.521e-05	0.0004	0.0009	0.0010	0.0005	0.0019	0.0006	0.0006	0.0006	0.0007	0.0019	0.0005	0.0005	0.0010	0.0007	0.0003	0	0.0003	0.0003	0.0002	0.0006	0.0034	0.0009	0.0005	0.0019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1730.79	32	chr16	30006929	.	CCCTGCTCCG	C	1730.79	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.747;DP=251;ExcessHet=0;FS=1.018;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=26.22;ReadPosRankSum=0.357;SOR=0.475	GT:AD:DP:GQ:PL	0/1:22,44:66:99:1741,0,772	6	0	1	0
chr16	30721189	30721189	T	C	exonic	SRCAP	.	nonsynonymous SNV	SRCAP:NM_006662:exon21:c.T3254C:p.V1085A	Floating-Harbor syndrome, Autosomal dominant	0	1521	1	0	0	1	0.000328623	0.0099	0.06	.	1370458	not_provided|Developmental_delay,_hypotonia,_musculoskeletal_defects,_and_behavioral_abnormalities|Floating-Harbor_syndrome|Inborn_genetic_diseases	MedGen:C3661900|MONDO:MONDO:0859202,MedGen:C5562012,OMIM:619595|MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140,Orphanet:2044|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.318	0.277071188618	7.7e-05	.	4.424e-05	0	0	0	0	7.747e-05	0	0	3.23e-05	5	154602	rs200083101	4.483e-05	4.446e-05	5.069e-05	3.888e-05	0.0005	3.604e-05	3.283e-05	0.0001	7.628e-05	0	0	0	0	0	0.0005	5.427e-05	3.339e-05	0	5.909e-05	5.905e-05	6.425e-05	5.371e-05	0.0001	3.075e-05	2.209e-05	4.766e-05	3.339e-05	0	0	0	0	0	0	0	0.0001	0.0009	0	0.002	0.72154	D	0.118	0.38016	T	0.984	0.60733	D	0.956	0.69739	D	.	.	.	.	1	0.81001	D	0.345	0.11182	N	-2.72	0.90622	D	-0.76	0.21215	N	0.566	0.62950	0.316	0.87806	D	0.679	0.88903	D	8	0.38998735	0.54821	T	0.277071	0.90095	D	0.318	0.64008	.	.	0.0675242888579	0.06100	0.1493581885449065	0.14857	0.645836694259	0.58019	0.668790280819	0.62665	T	0.032871	0.22674	T	-0.00164758	0.51428	T	-0.0391058	0.67762	D	0.179481085729278	0.19202	T	0.756024	0.38041	T	0.11289432	0.26666	0.15787101	0.36894	0.11289432	0.26665	0.15787101	0.36893	-4.379	0.29271	T	.	.	0.188	0.40457	B	.;.	.;.	3.714085	0.53042	23.3	0.96183305973612898	0.28966	0.84765	0.43853	D	AEFBCI	0.231077	0.35436	N	0.400433757522895	0.61446	4.345873	0.440008840421004	0.64079	4.654892	0.999998005885798	0.74766	0.719381	0.83141	0	0.702456	0.74545	0	0.702456	0.68683	0	0.733575	0.97253	0	.	.	5.36	5.36	0.76624	4.728000	0.61694	6.137000	0.53999	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.975000	0.56047	0.0:0.0:0.0:1.0	12.981	0.57968	10	0.99061	.;.	.	.	.	.	.	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	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.07143	1140.49	35	chr16	30721189	.	T	C	1140.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.702;DP=292;ExcessHet=0;FS=1.574;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.18;ReadPosRankSum=-2.139;SOR=0.866	GT:AD:DP:GQ:PL	0/1:54,48:102:99:1151,0,1345	6	0	1	0
chr16	57473436	57473436	G	T	exonic	DOK4	.	nonsynonymous SNV	DOK4:NM_001330556:exon7:c.C1039A:p.L347M,DOK4:NM_001369618:exon8:c.C1039A:p.L347M,DOK4:NM_001369620:exon8:c.C1039A:p.L347M,DOK4:NM_001369621:exon8:c.C922A:p.L308M,DOK4:NM_001369619:exon9:c.C922A:p.L308M,DOK4:NM_018110:exon9:c.C922A:p.L308M	.	418	1103	1	0	0	1	0.000453104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.369	0.0556800019752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.99	0.63424	D	0.675	0.53279	P	0.048120	0.23282	N	0.346769	0.610011	0.32613	D	1.39	0.34934	L	-4.32	0.97218	D	-0.4	0.13805	N	0.266	0.31140	0.701	0.93190	D	0.736	0.90983	D	10	0.24643078	0.41908	T	0.05568	0.66325	D	0.369	0.68844	0.254	0.19378	0.996007300407	0.99596	0.11795901811753098	0.11722	1.00121662946	0.74413	0.627547264099	0.56797	T	0.100589	0.40653	T	0.168651	0.70998	D	0.00447931	0.70626	D	0.889444649219513	0.54015	D	0.777022	0.40965	T	0.25077352	0.48082	0.15414909	0.36191	0.25077352	0.48082	0.15414909	0.36190	-4.607	0.32260	T	.	.	0.299	0.52897	B	.;.;.	.;.;.	4.047370	0.59964	24.2	0.99620102251713638	0.75353	0.77380	0.38039	D	AEFGBHCI	0.541116	0.55740	D	0.366176640117766	0.59599	4.140592	0.387916904294834	0.60818	4.273924	0.999999897983726	0.74766	0.722319	0.85440	0	0.552637	0.17590	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	5.4	4.43	0.52967	2.040000	0.40824	5.166000	0.47810	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.1619:0.0:0.8381:0.0	10.178	0.42126	626	0.65439	.;.;.	.	.	.	.	.	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	604.44	33	chr16	57473436	.	G	T	604.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.684;DP=231;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.99;ReadPosRankSum=0.11;SOR=0.584	GT:AD:DP:GQ:PL	0/1:30,25:55:99:615,0,845	6	0	1	0
chr16	66963826	66963826	G	A	exonic	CES3	.	nonsynonymous SNV	CES3:NM_001185177:exon4:c.G451A:p.A151T,CES3:NM_024922:exon4:c.G451A:p.A151T	.	416	1104	1	1	0	3	0.00135685	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.139	0.00176573354162	0.0024	0.00239617	0.0008	0.0088	8.646e-05	0	0	0.0001	0	0.0001	0.0007891	122	154602	rs71647891	0.0002	0.0002	0.0003	0.0002	0.0076	0.0002	0.0002	0.0069	0.0066	0.0076	0.0002	0	0	0	0.0002	2.878e-05	0.0004	0.0001	0.0025	0.0025	0.0026	0.0023	0.0084	0.0022	0.0022	0.0076	0.0074	0.0084	0	0.0012	0	0	0	0	5.88e-05	0.0014	0	0.018	0.51248	D	0.021	0.59732	D	0.88	0.48402	P	0.523	0.48316	P	0.503288	0.05105	N	1.361980	1	0.08975	N	2.41	0.69639	M	2.83	0.10771	T	-1.46	0.35792	N	0.171	0.18512	-0.9485	0.41228	T	0.030	0.12804	T	10	0.012755394	0.00273	T	0.001766	0.02986	T	0.139	0.37390	.	.	0.0716867268079	0.06686	0.5460331529942924	0.54529	0.214751900382	0.24013	0.410781294107	0.26565	T	0.445367	0.78841	T	-0.671562	0.00054	T	-0.730748	0.04294	T	0.0455777255682054	0.04708	T	0.654835	0.26514	T	0.052859984	0.09920	0.08478185	0.19529	0.052859984	0.09919	0.08478185	0.19528	-6.314	0.48832	T	.	.	0.252	0.48685	B	.;.	.;.	-0.602425	0.01566	0.103	0.73973674120576327	0.10523	0.06646	0.12664	N	AEFBI	0.080356	0.16245	N	-1.10829823830724	0.06495	0.2991298	-1.39995205096867	0.03253	0.1513693	0.999993152770629	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	4.32	-8.0	0.00995	-2.098000	0.01435	-8.245000	0.01002	-3.299000	0.00098	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.187:0.0:0.6695:0.1435	13.860	0.63052	151	0.94052	Carboxylesterase, type B;Carboxylesterase, type B	.	.	.	.	.	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	0.003788	0.07143	1385.53	36	chr16	66963826	.	G	A	1385.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.644;DP=271;ExcessHet=0;FS=5.899;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=16.11;ReadPosRankSum=1.13;SOR=0.306	GT:AD:DP:GQ:PL	0/1:31,55:86:99:1396,0,679	6	0	1	0
chr16	67230643	67230643	C	T	exonic	FHOD1	.	nonsynonymous SNV	FHOD1:NM_013241:exon18:c.G2816A:p.R939H,FHOD1:NM_001318202:exon20:c.G2894A:p.R965H	.	408	1102	11	1	0	13	0.00586378	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.252	0.0233043675025	0.0004	.	0.0004	9.63e-05	0	0.0001	0.0002	0.0006	0.0011	0.0002	0.0003105	48	154602	rs143903337	0.0003	0.0003	0.0002	0.0003	0.0010	0.0002	0.0002	0.0005	0.0003	2.987e-05	4.473e-05	0	7.557e-05	0.0003	0.0010	0.0003	0.0003	8.115e-05	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0001	0.0002	0.0002	0.0001	0	0.0001	0	0.0002	0.0002	0	0.0003	0	0	0.028	0.46129	D	0.002	0.79402	D	0.989	0.62824	D	0.88	0.62516	P	0.000000	0.84330	D	0.046268	1	0.81001	D	1.92	0.51302	L	2.22	0.18248	T	-4.68	0.79659	D	0.776	0.77319	-1.0627	0.11093	T	0.093	0.35255	T	10	0.6406512	0.69037	D	0.023304	0.46264	T	0.252	0.56159	.	.	0.627983267216	0.62494	0.37440061916774314	0.37354	0.884896445063	0.69936	0.701537489891	0.67365	T	0.250693	0.62082	T	-0.209718	0.19419	T	-0.18959	0.55628	T	0.256587415933609	0.23165	T	0.889211	0.62120	D	0.4180808	0.61963	0.20607339	0.44805	0.4180808	0.61964	0.20607339	0.44804	-10.088	0.74437	D	.	.	0.159	0.35225	B	.	.	5.062681	0.84388	28.3	0.99940638616085653	0.99767	0.97529	0.75344	D	AEFBHCI	0.489738	0.52752	N	0.572778306094889	0.71478	5.65714	0.541929229057629	0.70837	5.564378	0.999968252037668	0.48965	0.67177	0.52595	0	0.697927	0.68747	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	5.61	4.66	0.57857	3.881000	0.55866	7.647000	0.63496	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.998000	0.85391	0.0:0.8375:0.0:0.1625	9.369	0.37404	25	0.98345	Formin, FH2 domain|Formin, FH2 domain|Formin, FH2 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	0.001511	0.000000	0.000000	0.000000	0.000000	0.008621	0.003049	0.003788	0.07143	1787.44	35	chr16	67230643	.	C	T	1787.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.031;DP=340;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.61;ReadPosRankSum=-1.906;SOR=0.653	GT:AD:DP:GQ:PL	0/1:81,73:154:99:1798,0,2093	6	0	1	0
chr16	67236630	67236630	C	A	exonic	FHOD1	.	nonsynonymous SNV	FHOD1:NM_001318202:exon11:c.G1246T:p.A416S,FHOD1:NM_013241:exon11:c.G1246T:p.A416S	.	.	.	.	.	.	.	.	.	.	.	2217942	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.009	0.00639054640095	.	0.000199681	0.0002	0	0.0002	0	0	0.0002	0	0.0007	0.0001746	27	154602	rs201882646	0.0002	0.0002	0.0002	0.0003	0.0009	0.0002	0.0002	0.0007	0.0007	0	0.0003	0	0	0	0.0003	0.0002	0.0002	0.0009	0.0002	0.0002	0.0002	0.0002	0.0009	0.0002	0.0001	0.0005	0.0004	2.408e-05	0	0.0009	0	0	9.434e-05	0	0.0003	0.0005	0	0.427	0.09629	T	1.0	0.01155	T	0.001	0.07471	B	0.001	0.04355	B	0.894497	0.07316	N	1.060180	1	0.18198	N	-0.77	0.01674	N	2.09	0.20122	T	1.54	0.00702	N	0.096	0.07673	-0.9619	0.38819	T	0.018	0.07612	T	10	0.011076063	0.00244	T	0.006391	0.16812	T	0.009	0.00846	.	.	0.349870743963	0.34602	0.24766320004743847	0.24680	0.186915878189	0.21002	0.300027489662	0.10404	T	0.01204	0.10647	T	-0.627097	0.00100	T	-0.762713	0.03016	T	0.0125355755438406	0.00208	T	0.582642	0.21138	T	0.03549556	0.04190	0.038521837	0.03738	0.03549556	0.04190	0.038521837	0.03738	-3.454	0.15794	T	.	.	0.068	0.02765	B	.	.	-0.489089	0.01902	0.158	0.81386117080882459	0.13660	0.05030	0.10813	N	ALL	0.044317	0.07114	N	-1.43311547946713	0.02353	0.103803	-1.39040051426261	0.03354	0.1562548	0.999999580006043	0.74766	0.631515	0.41029	0	0.697927	0.68747	0	0.693117	0.63056	0	0.741806	0.99463	0	.	.	4.73	-0.57	0.11164	-0.667000	0.05374	-0.043000	0.12644	-0.332000	0.05765	0.000000	0.06391	0.007000	0.19602	0.008000	0.08271	0.1807:0.4845:0.0:0.3348	4.592	0.11706	25	0.98345	Rho GTPase-binding/formin homology 3 (GBD/FH3) 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	0.005051	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	1079.44	34	chr16	67236630	.	C	A	1079.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.322;DP=286;ExcessHet=0;FS=1.715;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.48;ReadPosRankSum=0.454;SOR=0.517	GT:AD:DP:GQ:PL	0/1:46,48:94:99:1090,0,1113	6	0	1	0
chr16	71067297	71067297	T	C	exonic	HYDIN	.	nonsynonymous SNV	HYDIN:NM_001198542:exon15:c.A2149G:p.T717A,HYDIN:NM_001198543:exon15:c.A2119G:p.T707A,HYDIN:NM_001270974:exon15:c.A2068G:p.T690A,HYDIN:NM_017558:exon15:c.A2068G:p.T690A	Ciliary dyskinesia, primary, 5, Autosomal recessive	2	1515	5	0	0	5	0.00164745	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.0178850769417	.	.	0.0002	0.0008	0	0.0002	0	0.0002	0	0.0002	0.198402	5164	26028	rs10744982	0.0011	0.0016	0.0010	0.0012	0.0038	0.0011	0.0011	0.0032	0.0030	0.0037	0.0018	0.0003	0.0015	0.0016	0.0038	0.0009	0.0016	0.0016	0.0046	0.0055	0.0043	0.0049	0.0091	0.0043	0.0042	0.0083	0.0080	0.0091	0.0011	0.0030	0.0009	0.0045	0.0016	0.0068	0.0030	0.0067	0.0025	0.033	0.44358	D	0.03	0.54541	D	0.767	0.43786	P	0.491	0.47360	P	0.004580	0.33608	U	0.000000	0.946567	0.37532	D	1.845	0.48678	L	3.2	0.07236	T	-2.18	0.62008	N	0.62	0.64648	-1.0410	0.17011	T	0.060	0.25127	T	10	0.029135227	0.01042	T	0.017885	0.39762	T	0.082	0.23913	.	.	0.180583059064	0.17676	0.31962033918994315	0.31875	.	.	0.468221008778	0.34436	T	0.144842	0.48166	T	-0.129986	0.31497	T	-0.424493	0.30562	T	0.0355347792472406	0.02899	T	.	.	.	0.2797891	0.51028	0.20425557	0.44541	0.28480807	0.51506	0.30171698	0.56203	-8.068	0.66784	D	.	.	0.180	0.41187	B	.;.;.;.;.	.;.;.;.;.	3.866032	0.56101	23.7	0.99298037596038013	0.58505	0.90523	0.51769	D	AEFDBI	0.787069	0.71696	D	0.369708649013584	0.59786	4.16116	0.394615079195798	0.61231	4.320503	0.999999999202516	0.74766	0.600919	0.35232	0	0.563428	0.19063	0	0.640751	0.46059	0	0.613276	0.41899	0	.	.	4.99	4.99	0.65942	3.390000	0.52263	7.956000	0.75945	0.580000	0.29708	1.000000	0.71638	1.000000	0.68203	0.947000	0.49155	0.0:0.0:0.0:1.0	13.749	0.62374	674	0.60593	.;.;.;.;.	.	.	.	.	.	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	0.001359	0.005848	0.000000	0.000000	0.009146	0.000000	0.08333	49.27	34	chr16	71067297	.	T	C	49.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=4.64;DP=253;ExcessHet=0;FS=13.969;MLEAC=1;MLEAF=0.083;MQ=50.14;MQRankSum=-3.521;QD=0.77;ReadPosRankSum=-1.603;SOR=2.543	GT:AD:DP:GQ:PL	0/1:57,7:64:59:59,0,1455	5	0	1	1
chr16	71634538	71634538	-	G	exonic	MARVELD3	.	frameshift insertion	MARVELD3:NM_052858:exon3:c.942dupG:p.Y317Vfs*22	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0008	8.645e-05	0.0001	0	0.0005	0	0	3.84e-05	1	26028	rs747980715	2.121e-05	5.062e-05	2.042e-05	2.2e-05	8.961e-05	1.52e-05	1.324e-05	2.375e-05	1.258e-05	8.961e-05	2.236e-05	3.826e-05	2.519e-05	9.378e-05	0	1.349e-05	4.967e-05	2.319e-05	3.285e-05	3.281e-05	5.141e-05	1.344e-05	0.0002	1.261e-05	7.98e-06	7.98e-06	2.99e-06	4.815e-05	0	0	0	0.0002	0	0	2.94e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001511	0.000000	0.002717	0.002924	0.000000	0.017241	0.000000	0.000000	0.07143	2149.45	34	chr16	71634538	.	C	CG	2149.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.177;DP=357;ExcessHet=0;FS=5.51;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.95;ReadPosRankSum=-0.977;SOR=0.638	GT:AD:DP:GQ:PL	0/1:79,87:166:99:2160,0,1903	6	0	1	0
chr16	81041422	81041422	A	G	exonic	ATMIN	.	nonsynonymous SNV	ATMIN:NM_015251:exon2:c.A403G:p.I135V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.111	0.0134874410761	.	0.000199681	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs556413183	4.789e-06	4.788e-06	5.445e-06	4.125e-06	6.295e-06	1.99e-06	1.28e-06	2.62e-06	1.68e-06	0	0	0	0	0	0	6.295e-06	0	0	1.313e-05	1.312e-05	1.285e-05	1.343e-05	0.0002	2.18e-06	8.2e-07	.	.	2.406e-05	0	0	0	0.0002	0	0	0	0	0	0.08	0.33585	T	0.0	0.92824	D	0.905	0.49920	P	0.545	0.49043	P	0.000001	0.84330	D	0.052644	0.999605	0.81001	D	0.205	0.09354	N	1.48	0.31731	T	-0.06	0.07882	N	0.578	0.59986	-1.1205	0.02300	T	0.073	0.29707	T	10	0.25182837	0.42528	T	0.013487	0.32933	T	0.111	0.31313	0.361	0.36548	0.245660935333	0.24156	0.3145590984357124	0.31368	0.0538255850715	0.05943	0.500732541084	0.38931	T	0.051068	0.28774	T	-0.0804143	0.39648	T	-0.353286	0.38830	T	0.509127875010157	0.32965	D	0.824917	0.48720	T	0.060648933	0.12468	0.09495779	0.22500	0.060648933	0.12468	0.09495779	0.22500	-5.541	0.42250	T	.	.	0.105	0.19154	B	.	.	3.462982	0.48278	22.6	0.99680999361147193	0.79241	0.97756	0.76905	D	AEFDBI	0.623745	0.60758	D	0.369587586791882	0.59780	4.160456	0.455400033789947	0.65066	4.776772	0.992263323516079	0.32778	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.5	5.5	0.81386	6.294000	0.72722	8.067000	0.76424	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.854000	0.40426	1.0:0.0:0.0:0.0	15.908	0.79230	695	0.58372	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	.	.	.	.	.	.	.	.	0.08333	461.27	34	chr16	81041422	.	A	G	461.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.59;DP=203;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.53;ReadPosRankSum=-0.366;SOR=0.693	GT:AD:DP:GQ:PL	0/1:20,20:40:99:471,0,408	5	0	1	1
chr16	88429767	88429767	G	A	exonic	ZNF469	.	nonsynonymous SNV	ZNF469:NM_001367624:exon3:c.G2297A:p.R766Q	Brittle cornea syndrome 1, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	271013	Ehlers-Danlos_syndrome|Brittle_cornea_syndrome_1|ZNF469-related_disorder|not_specified|not_provided|Cardiovascular_phenotype	MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000,Orphanet:98249|MONDO:MONDO:0024543,MedGen:C0268344,OMIM:229200,Orphanet:90354|.|MedGen:CN169374|MedGen:C3661900|MedGen:CN230736	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.010	0.689879647916	.	.	0.0007	0	0.0072	0	0	0.0017	0	0.0001	0.0002005	31	154602	rs144492145	0.0016	0.0015	0.0015	0.0016	0.0027	0.0015	0.0015	0.0018	0.0017	0.0002	0.0014	0.0006	5.613e-05	6.643e-05	0.0027	0.0018	0.0012	0.0003	0.0011	0.0011	0.0010	0.0013	0.0025	0.0010	0.0009	0.0019	0.0016	0.0002	0	0.0025	0.0006	0	9.414e-05	0	0.0016	0.0014	0.0006	0.814	0.03005	T	0.397	0.15305	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.3	0.06368	T	0.15	0.05310	N	0.057	0.07949	-0.9293	0.44241	T	0.008	0.02884	T	9	0.008688509	0.00197	T	0.68988	0.97445	D	0.010	0.01040	.	.	0.0611884634855	0.05136	0.06980069154279185	0.06918	.	.	0.484836757183	0.36724	T	0.002174	0.01575	T	-0.721642	0.00027	T	-0.815223	0.01551	T	0.0182576048743362	0.00545	T	0.553945	0.19167	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.05274	B	.;.	.;.	-0.159613	0.03302	0.572	0.96886367183716382	0.31481	0.01370	0.04678	N	AEFDBI	0.035639	0.04621	N	-1.4106909074892	0.02544	0.1124759	-1.4305145795966	0.02951	0.1367589	0.999945635966818	0.47345	0.582742	0.33608	0	0.541556	0.11502	0	0.61531	0.40942	0	0.604944	0.38103	0	.	.	4.63	-0.865	0.10122	-0.592000	0.05841	0.128000	0.15008	-0.292000	0.06281	0.000000	0.06391	0.000000	0.08366	0.015000	0.10482	0.3375:0.0:0.5122:0.1503	5.041	0.13801	.	.	.;.	.	.	.	.	.	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	1375.53	45	chr16	88429767	.	G	A	1375.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.7;DP=310;ExcessHet=0;FS=4.704;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.98;ReadPosRankSum=0.326;SOR=0.921	GT:AD:DP:GQ:PL	0/1:55,51:106:99:1386,0,1421	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|1:53,13:66:99:0|1:89284160_A_G:161,0,1933:89284160	3	0	2	2
chr16	89863554	89863554	G	A	exonic	SPIRE2	.	nonsynonymous SNV	SPIRE2:NM_032451:exon11:c.G1654A:p.E552K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.775	0.283268600651	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1480027511	4.789e-06	4.788e-06	6.806e-06	2.75e-06	2.987e-05	1.99e-06	1.28e-06	1.32e-06	9.6e-07	2.987e-05	0	0	0	0	0	4.496e-06	1.656e-05	0	6.571e-06	6.566e-06	0	1.345e-05	2.413e-05	0	0	.	.	2.413e-05	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.67	0.78151	M	-0.64	0.77336	T	-3.7	0.70553	D	0.967	0.98563	0.534	0.91015	D	0.697	0.89568	D	10	0.87594163	0.86884	D	0.283269	0.90307	D	0.775	0.92460	0.418	0.45873	0.686562002565	0.68387	0.7029108496554749	0.70232	0.703401887687	0.61268	0.7511318326	0.74613	T	0.436573	0.78291	T	0.282434	0.81523	D	0.349448	0.90294	D	0.994813919067383	0.86343	D	0.993861	0.97982	D	0.85627466	0.87803	0.7735887	0.86638	0.85627466	0.87805	0.7735887	0.86639	-11.753	0.83627	D	.	.	0.851	0.80068	P	.;.	.;.	5.816405	0.93679	33	0.99937472430462981	0.99661	0.98717	0.85956	D	AEFGBI	0.930856	0.91880	D	0.950143618138434	0.93990	12.42235	0.907231960838196	0.95881	14.06467	0.999999999999997	0.74766	0.695654	0.57023	0	0.296712	0.05252	1	0.723109	0.80598	0	0.620204	0.46100	0	.	.	5.64	5.64	0.86480	9.519000	0.97069	11.601000	0.93476	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	18.686	0.91522	604	0.67577	.;.	.	.	.	.	.	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	1435.44	33	chr16	89863554	.	G	A	1435.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.64;DP=305;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.86;ReadPosRankSum=-0.21;SOR=0.662	GT:AD:DP:GQ:PL	0/1:61,60:121:99:1446,0,1412	6	0	1	0
chr17	413501	413501	G	0	exonic	C17orf97	.	.	.	.	518	917	57	3	27	90	0.0332103	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	1946.13	39	chr17	413501	.	G	*	1946.13	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.27;DP=337;ExcessHet=0.0921;FS=1.323;MLEAC=2;MLEAF=0.143;MQ=58.96;MQRankSum=-0.212;QD=12.72;ReadPosRankSum=1.47;SOR=0.558	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1,28:54:99:1|0:413473_GGCCCTCAAGGGCTTCCACCCCGACCCCGAC_G:1791,906,836:413473	5	0	2	0
chr17	413503	413503	C	0	exonic	C17orf97	.	.	.	.	725	444	202	125	26	478	0.337313	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	3971.62	37	chr17	413503	.	C	*	3971.62	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.55;DP=368;ExcessHet=0.3696;FS=0;MLEAC=2;MLEAF=0.143;MQ=58.98;MQRankSum=-0.767;QD=11.68;ReadPosRankSum=0.778;SOR=0.678	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1,28:54:99:1|0:413473_GGCCCTCAAGGGCTTCCACCCCGACCCCGAC_G:1791,906,836:413473	5	0	2	0
chr17	1470326	1470326	C	T	exonic	MYO1C	.	nonsynonymous SNV	MYO1C:NM_001080779:exon24:c.G2375A:p.R792Q,MYO1C:NM_001080950:exon24:c.G2318A:p.R773Q,MYO1C:NM_001363855:exon24:c.G2303A:p.R768Q,MYO1C:NM_033375:exon24:c.G2270A:p.R757Q	.	.	.	.	.	.	.	.	.	.	.	4027083	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.204	0.0935641983909	.	.	5.912e-05	0	0	0	0	0	0	0.0001	2.59e-05	4	154602	rs752658541	6.89e-05	6.382e-05	8.447e-05	5.286e-05	0.0011	5.701e-05	5.277e-05	0.0005	0.0004	6.669e-05	0.0007	0	0	6.5e-05	0.0011	3.494e-05	0.0003	3.866e-05	6.996e-05	6.3e-05	8.269e-05	5.568e-05	0.0005	3.403e-05	2.468e-05	0.0002	0.0001	0	0	0.0005	0	0	0	0	3.48e-05	0	0.0003	0.064	0.36912	T	0.123	0.35710	T	0.001	0.07471	B	0.001	0.06944	B	0.000169	0.48594	N	0.209140	0.988838	0.24366	N	1.445	0.36358	L	-2.61	0.89953	D	-1.15	0.29525	N	0.126	0.12484	-0.4989	0.68689	T	0.480	0.80098	T	10	0.09219685	0.16214	T	0.093564	0.76096	D	0.204	0.49076	.	.	0.715157034389	0.71265	0.4355596698510164	0.43472	0.178067386009	0.20030	0.230826243758	0.02030	T	0.395087	0.75406	T	-0.318444	0.07026	T	-0.348028	0.39430	T	0.0492585338652134	0.05370	T	0.839216	0.51320	T	0.052797634	0.09900	0.06526116	0.13202	0.052797634	0.09900	0.06526116	0.13201	-6.068	0.46969	T	.	.	0.077	0.11797	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	1.828114	0.23228	15.94	0.98933217673109164	0.48788	0.11772	0.16852	N	AEFDBI	0.107536	0.21421	N	-0.795465254568917	0.13428	0.6613987	-0.763910130998586	0.15381	0.8086501	0.0384666063667	0.14348	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	4.89	-0.754	0.10507	0.604000	0.23862	-0.860000	0.07144	-0.187000	0.09635	0.255000	0.24900	0.000000	0.08366	0.475000	0.28453	0.0:0.3385:0.0:0.6615	8.064	0.29812	647	0.63344	.;.;.;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	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	784.53	42	chr17	1470326	.	C	T	784.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.96;DP=312;ExcessHet=0;FS=0.808;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.44;ReadPosRankSum=2.2;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:60,33:93:99:0|1:1470318_C_T:795,0,1468:1470318	6	0	1	0
chr17	3062847	3062847	G	A	exonic	OR1D5	.	nonsynonymous SNV	OR1D5:NM_014566:exon1:c.C761T:p.T254M	.	424	1094	3	1	0	5	0.00227998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0118732806835	.	.	.	.	.	.	.	.	.	.	0.0003458	9	26028	rs2258495	9.238e-05	0.0002	8.713e-05	9.767e-05	0.0008	7.96e-05	7.433e-05	0.0006	0.0006	5.975e-05	8.946e-05	0	0.0003	0	0.0002	3.957e-05	0.0001	0.0008	0.0001	0.0002	0.0001	0.0001	0.0012	7.086e-05	5.744e-05	0.0005	0.0004	4.811e-05	0	0	0	0.0004	0	0	0.0001	0	0.0012	.	.	.	0.0	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	.	.	.	.	0.999999	0.08975	N	3.455	0.92281	M	-0.63	0.72011	T	.	.	.	0.514	0.54496	.	.	.	.	.	.	.	0.56810117	0.65165	D	0.011873	0.29919	T	.	.	.	.	0.855324636859	0.85392	0.04796168997363756	0.04739	2.62205694876	0.98273	0.253825187683	0.04182	T	0.012907	0.11259	T	-0.066951	0.41814	T	-0.333947	0.41029	T	.	.	.	0.577942	0.20808	T	0.06147208	0.12732	0.21113539	0.45529	0.06147208	0.12731	0.21113539	0.45528	-8.667	0.65530	D	.	.	0.097	0.15609	B	.	.	4.127501	0.61742	24.4	0.9979165206545445	0.87750	0.07938	0.13923	N	AEFGI	0.063302	0.12225	N	.	.	.	.	.	.	7.16935459880942E-5	0.04552	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.45	3.45	0.38602	2.841000	0.47923	5.627000	0.49103	0.573000	0.29008	0.138000	0.23473	1.000000	0.68203	0.381000	0.26357	0.0:0.0:1.0:0.0	13.955	0.63653	870	0.31527	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	.	.	.	.	.	.	.	.	0.07143	543.44	37	chr17	3062847	.	G	A	543.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=7.4;DP=899;ExcessHet=0;FS=66.738;MLEAC=1;MLEAF=0.071;MQ=49.94;MQRankSum=-7.22;QD=2.76;ReadPosRankSum=-4.027;SOR=5.478	GT:AD:DP:GQ:PL	0/1:165,32:197:99:554,0,4145	6	0	1	0
chr17	3216354	3216354	C	T	exonic	OR1A1	.	nonsynonymous SNV	OR1A1:NM_014565:exon1:c.C734T:p.T245M	.	429	1074	19	0	0	19	0.00876788	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	.	0.0002	0.000399361	0.0021	9.612e-05	0.0004	0	0	0.0011	0.0011	0.0108	0.0017852	276	154602	rs62090945	0.0012	0.0012	0.0009	0.0016	0.0112	0.0012	0.0012	0.0106	0.0104	0.0001	0.0004	0.0006	0	0.0007	0.0038	0.0006	0.0010	0.0112	0.0006	0.0006	0.0004	0.0008	0.0079	0.0005	0.0005	0.0059	0.0052	2.406e-05	0	0.0005	0.0006	0	0.0008	0.0068	0.0005	0.0005	0.0079	0.009	0.57480	D	0.003	0.76473	D	1.0	0.90584	D	1.0	0.97372	D	0.000065	0.52346	D	0.000000	1	0.08975	N	1.435	0.35949	L	1.14	0.38397	T	-3.59	0.69236	D	0.144	0.14480	-1.0576	0.12362	T	0.109	0.39439	T	10	0.010473847	0.00233	T	.	.	.	0.098	0.28162	.	.	0.678187180389	0.67545	0.23792941975773832	0.23706	0.108402233092	0.12225	0.193604499102	0.00295	T	0.012	0.10762	T	-0.53056	0.00381	T	-0.525494	0.19739	T	0.0836626874931054	0.10449	T	0.284972	0.05045	T	0.11131756	0.26307	0.11306539	0.27285	0.11131756	0.26307	0.11306539	0.27285	-5.993	0.46221	T	.	.	0.101	0.17657	B	.;.;.	.;.;.	2.263604	0.28925	17.96	0.99699207915652932	0.80522	0.03538	0.08731	N	AEFBI	0.035229	0.04498	N	-0.0623885657421028	0.39052	2.296755	-0.186504192124276	0.32032	1.818419	6.33953354773996E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.05	2.97	0.33479	-0.347000	0.07799	0.220000	0.16063	-2.544000	0.00250	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.6879:0.1495:0.1627	6.460	0.21151	616	0.66398	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;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	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.003788	0.07143	2896.44	77	chr17	3216354	.	C	T	2896.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.55;DP=768;ExcessHet=0;FS=0.475;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.59;ReadPosRankSum=-0.603;SOR=0.745	GT:AD:DP:GQ:PL	0/1:136,114:250:99:2907,0,3146	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	0/1:26,44:70:99:.:.:1395,0,529:.	1	1	5	0
chr17	5363006	5363006	C	T	exonic	RABEP1	.	nonsynonymous SNV	RABEP1:NM_001291581:exon9:c.C1529T:p.T510M,RABEP1:NM_001083585:exon10:c.C1658T:p.T553M,RABEP1:NM_004703:exon10:c.C1658T:p.T553M	.	426	1086	10	0	0	10	0.00458295	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.134	.	.	0.00179712	0.0015	0.0003	8.652e-05	0.0001	0	4.511e-05	0.0022	0.0105	0.0012613	195	154602	rs374594228	0.0007	0.0007	0.0003	0.0012	0.0120	0.0007	0.0007	0.0114	0.0112	2.993e-05	2.236e-05	0	2.52e-05	1.872e-05	0.0007	1.262e-05	0.0005	0.0120	0.0003	0.0003	0.0001	0.0004	0.0077	0.0002	0.0002	0.0057	0.0051	2.408e-05	0	0	0	0	9.441e-05	0	1.47e-05	0.0005	0.0077	0.092	0.31682	T	0.097	0.39190	T	0.144	0.27759	B	0.039	0.23607	B	0.000004	0.62929	D	0.104278	0.999993	0.58761	D	0.755	0.19153	N	1.33	0.35031	T	-0.18	0.09796	N	0.461	0.49783	-1.0867	0.06102	T	0.054	0.22921	T	10	0.009521872	0.00215	T	.	.	.	0.134	0.36365	0.642	0.77903	0.314436011497	0.31061	0.40679981457577513	0.40595	.	.	0.745171904564	0.73733	T	0.098707	0.40279	T	-0.405872	0.02118	T	-0.345395	0.39732	T	0.0477543146671593	0.05099	T	0.943306	0.78595	D	0.10942916	0.25872	0.099683255	0.23809	0.10942916	0.25871	0.099683255	0.23808	-3.458	0.17182	T	.	.	0.098	0.27642	B	.;.	.;.	4.973395	0.82330	27.8	0.98915920643194	0.48454	0.96176	0.67882	D	AEFBI	0.488417	0.52675	N	-0.184394770695045	0.33783	1.92066	-0.0248319835592015	0.38596	2.276241	0.996940744120789	0.35138	0.706548	0.73137	0	0.724815	0.89359	0	0.658105	0.52812	0	0.714379	0.83352	0	.	.	5.61	4.63	0.57175	3.952000	0.56399	7.697000	0.66086	0.599000	0.40250	0.999000	0.42656	1.000000	0.68203	0.989000	0.64315	0.1507:0.7749:0.0:0.0744	8.840	0.34296	504	0.75712	Rabaptin, GTPase-Rab5 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	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.07143	653.49	34	chr17	5363006	.	C	T	653.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.901;DP=234;ExcessHet=0;FS=2.128;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.9;ReadPosRankSum=-1.034;SOR=1.09	GT:AD:DP:GQ:PL	0/1:37,29:66:99:664,0,823	6	0	1	0
chr17	6425710	6425710	C	A	exonic	AIPL1	.	nonsynonymous SNV	AIPL1:NM_001033054:exon5:c.G716T:p.R239L,AIPL1:NM_001033055:exon5:c.G725T:p.R242L,AIPL1:NM_001285399:exon6:c.G869T:p.R290L,AIPL1:NM_001285400:exon6:c.G839T:p.R280L,AIPL1:NM_001285401:exon6:c.G833T:p.R278L,AIPL1:NM_001285402:exon6:c.G788T:p.R263L,AIPL1:NM_014336:exon6:c.G905T:p.R302L	Cone-rod dystrophy, Autosomal recessive;Leber congenital amaurosis 4, Autosomal recessive;Retinitis pigmentosa, juvenile, Autosomal recessive	1	1480	38	3	0	44	0.0146471	.	.	YES	76620	AIPL1-related_disorder|Leber_congenital_amaurosis_1|not_specified|not_provided|Leber_congenital_amaurosis_4	MedGen:CN239169|MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000,Orphanet:65|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011458,MedGen:C1858386,OMIM:604393	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.406	0.0394799728856	0.0005	0.00159744	0.0026	9.768e-05	0.0044	0	0	0.0017	0.0089	0.0087	0.0022898	354	154602	rs62637015	0.0016	0.0016	0.0013	0.0018	0.0094	0.0015	0.0015	0.0088	0.0086	0.0001	0.0040	0.0057	2.519e-05	2.106e-05	0.0090	0.0009	0.0025	0.0094	0.0013	0.0013	0.0012	0.0013	0.0085	0.0011	0.0011	0.0064	0.0057	0.0002	0	0.0031	0.0046	0	0	0.0034	0.0010	0.0052	0.0085	0.214	0.22920	T	0.252	0.32144	T	0.003	0.20130	B	0.006	0.19966	B	0.385035	0.13336	N	0.718610	1	0.81001	D	0.55	0.14455	N	-0.61	0.71779	T	-3.36	0.66549	D	0.086	0.16586	-1.1342	0.01592	T	0.132	0.44445	T	10	0.0067735612	0.00154	T	0.03948	0.58831	D	0.406	0.71869	.	.	0.434045841721	0.43020	0.42811152323532936	0.42728	0.233831914557	0.25922	0.291568279266	0.09150	T	0.257128	0.62812	T	-0.272105	0.11523	T	-0.157804	0.58549	T	0.0625567919696403	0.07565	T	0.337566	0.34567	T	0.20028594	0.41999	0.27257818	0.53170	0.2458464	0.47547	0.2033774	0.44410	-2.613	0.15123	T	0.16614760690030306	0.20640	0.129	0.36214	B	.;.;.;.;.;.	.;.;.;.;.;.	1.465544	0.18885	13.98	0.96059384047437069	0.28588	0.16297	0.19323	N	AEFBI	0.206018	0.33232	N	-0.939645002544192	0.09926	0.4720182	-0.905343940075263	0.11967	0.6129108	6.31791550540901E-5	0.04366	0.428477	0.06694	0	0.547309	0.14657	0	0.550215	0.18615	0	0.613276	0.41899	0	.	.	4.98	-3.89	0.03916	-0.221000	0.09208	-2.386000	0.03819	0.599000	0.40250	0.062000	0.21832	0.000000	0.08366	0.997000	0.79791	0.2438:0.3904:0.0:0.3658	4.532	0.11413	872	0.31118	.;.;.;.;.;.	.	.	.	.	.	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	0.007056	0.005102	0.009511	0.005848	0.000000	0.008621	0.009146	0.007576	0.07143	2009.45	45	chr17	6425710	.	C	A	2009.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.323;DP=379;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.16;ReadPosRankSum=1.06;SOR=0.735	GT:AD:DP:GQ:PL	0/1:89,91:180:99:2020,0,2051	6	0	1	0
chr17	6800775	6800775	C	G	exonic	TEKT1	.	nonsynonymous SNV	TEKT1:NM_053285:exon7:c.G1021C:p.V341L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.254	0.0148905317491	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.74e-06	0.0001	2.726e-06	2.755e-06	3.602e-06	6.4e-07	4.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.602e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.01	0.65728	D	0.554	0.38213	P	0.802	0.58266	P	0.000902	0.41128	D	0.246339	0.603536	0.30920	N	3.065	0.87014	M	3.56	0.04696	T	-2.86	0.60188	D	0.591	0.61087	-1.1171	0.02524	T	0.046	0.19879	T	10	0.87548256	0.86836	D	0.014891	0.35296	T	0.254	0.56428	0.784	0.90768	0.246773566709	0.24272	0.5436249433425214	0.54288	0.388407156696	0.40106	0.465720266104	0.34094	T	0.063408	0.32168	T	-0.0577574	0.43257	T	-0.320741	0.42493	T	0.98490309715271	0.76061	D	0.841416	0.51702	T	0.3524521	0.57257	0.4248366	0.66311	0.3524521	0.57257	0.4248366	0.66311	-7.213	0.55575	T	.	.	0.280	0.51350	B	.	.	3.041864	0.40780	21.2	0.99569122627841022	0.72258	0.87246	0.46727	D	AEFDBHCI	0.189729	0.31698	N	0.250775222256954	0.53677	3.535585	0.210393057645656	0.50423	3.234527	0.999881703001044	0.44867	0.525926	0.21836	0	0.563428	0.19063	0	0.607795	0.38427	0	0.584449	0.35598	0	.	.	5.84	2.75	0.31439	1.756000	0.38018	-0.111000	0.11829	0.599000	0.40250	1.000000	0.71638	0.151000	0.23179	0.983000	0.59808	0.0:0.7763:0.0:0.2237	10.030	0.41269	873	0.30802	.	.	.	.	.	.	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	438.1	100	chr17	6800775	.	C	G	438.1	.	AC=2;AF=0.333;AN=6;BaseQRankSum=-1.479;DP=607;ExcessHet=0.4139;FS=239.519;MLEAC=3;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.8;ReadPosRankSum=2.42;SOR=8.121	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:113,30:155:99:.:.:297,0,3757:.	1	0	2	4
chr17	7224973	7224973	G	A	exonic	ACADVL	.	nonsynonymous SNV	ACADVL:NM_001033859:exon19:c.G1778A:p.R593Q,ACADVL:NM_001270448:exon19:c.G1616A:p.R539Q,ACADVL:NM_000018:exon20:c.G1844A:p.R615Q,ACADVL:NM_001270447:exon21:c.G1913A:p.R638Q	VLCAD deficiency, Autosomal recessive	0	1484	36	2	0	40	0.0132979	.	.	YES	192609	Very_long_chain_acyl-CoA_dehydrogenase_deficiency|not_provided|ACADVL-related_disorder|not_specified	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475,Orphanet:26793|MedGen:C3661900|.|MedGen:CN169374	reviewed_by_expert_panel	Likely_benign	.	.	.	.	.	.	.	.	0.397	0.0257525359531	0.0025	0.000798722	0.0028	0.0007	0.0006	0	0.0002	0.0044	0.0022	0.0020	0.002749	425	154602	rs148584617	0.0029	0.0029	0.0029	0.0030	0.0133	0.0028	0.0028	0.0109	0.0101	0.0013	0.0016	0.0116	0	0.0003	0.0133	0.0030	0.0031	0.0022	0.0024	0.0024	0.0024	0.0025	0.0040	0.0022	0.0022	0.0032	0.0029	0.0010	0	0.0040	0.0095	0	0.0003	0.0102	0.0031	0.0057	0.0017	0.49	0.07994	T	0.479	0.11933	T	0.033	0.20350	B	0.001	0.04355	B	0.276169	0.15032	N	0.641728	0.994622	0.23478	N	0.51	0.13489	N	-1.15	0.77964	T	-0.63	0.18459	N	0.656	0.66615	-0.9310	0.43992	T	0.224	0.58805	T	10	0.0066580176	0.00151	T	0.025753	0.48703	D	0.397	0.71163	.	.	0.628003037427	0.62497	0.5823363402754311	0.58162	0.224652461298	0.24998	0.2488938272	0.03652	T	0.136801	0.46939	T	-0.26384	0.12454	T	-0.153237	0.58956	T	0.00398743488164421	0.00042	T	0.822218	0.48193	T	0.11340508	0.26784	0.06592314	0.13431	0.13194865	0.30739	0.053821955	0.09139	-4.889	0.35611	T	0.1058887368373588	0.08449	0.065	0.04975	B	.;.;.	.;.;.	1.509091	0.19389	14.24	0.89813027631458398	0.19124	0.18951	0.20468	N	AEFDBHCI	0.475267	0.51918	N	-0.670574158382941	0.16863	0.862907	-0.582289400952017	0.19955	1.072971	0.999998862530056	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.74	0.885	0.18323	0.045000	0.13898	0.179000	0.15609	0.676000	0.76740	0.053000	0.21524	0.006000	0.19429	0.896000	0.43308	0.4535:0.0:0.5465:0.0	8.384	0.31651	366	0.84579	.;.;.	.	.	.	.	.	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	0.014099	0.000000	0.010870	0.023392	0.000000	0.043103	0.015244	0.011364	0.08333	1178.27	35	chr17	7224973	.	G	A	1178.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.13;DP=283;ExcessHet=0;FS=3.954;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.81;ReadPosRankSum=0.02;SOR=1.084	GT:AD:DP:GQ:PL	0/1:43,49:92:99:1188,0,912	5	0	1	1
chr17	8263788	8263788	C	T	exonic	PFAS	.	nonsynonymous SNV	PFAS:NM_012393:exon15:c.C1643T:p.T548I	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.413	0.0443680895984	0.0004	0.000199681	0.0002	0	0.0008	0	0	0.0002	0.0011	0	0.0001746	27	154602	rs144399783	0.0002	0.0002	0.0001	0.0002	0.0005	0.0001	0.0001	0.0004	0.0003	0	0.0005	3.829e-05	0	1.872e-05	0	0.0002	0.0003	4.638e-05	0.0002	0.0002	0.0002	0.0001	0.0005	0.0001	9.696e-05	0.0003	0.0002	4.813e-05	0	0.0005	0	0	0	0	0.0002	0	0	0.001	0.78490	D	0.005	0.72224	D	1.0	0.90584	D	0.995	0.83170	D	0.000008	0.62929	D	0.108661	0.999999	0.58761	D	3.34	0.90961	M	2.34	0.16351	T	-5.53	0.86073	D	0.737	0.73735	-0.6542	0.62530	T	0.164	0.50061	T	10	0.6560924	0.69882	D	0.044368	0.61452	D	0.413	0.72404	.	.	0.929386966284	0.92866	0.691705358912681	0.69110	0.879546054641	0.69721	0.695743739605	0.66530	T	0.350174	0.71793	T	-0.150835	0.28180	T	-0.0958587	0.63716	T	0.634900629520416	0.37822	D	0.972478	0.90093	D	0.9501447	0.96280	0.8690394	0.92800	0.9501447	0.96280	0.8690394	0.92800	-12.33	0.86421	D	.	.	0.635	0.70325	P	.	.	4.498502	0.70332	25.5	0.99865151144465436	0.94366	0.97248	0.73568	D	AEFDBI	0.673210	0.63935	D	0.805926237649121	0.86475	8.897533	0.722070287838275	0.84054	8.186569	0.967592737448313	0.28989	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.84	4.85	0.62375	7.001000	0.76051	7.721000	0.67307	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.884000	0.42379	0.1539:0.8461:0.0:0.0	13.869	0.63106	499	0.76092	PurM-like, 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	0.001007	0.000000	0.001359	0.000000	0.000000	0.008621	0.000000	0.000000	0.07143	1678.44	35	chr17	8263788	.	C	T	1678.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.31;DP=346;ExcessHet=0;FS=1.967;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.23;ReadPosRankSum=-0.888;SOR=0.895	GT:AD:DP:GQ:PL	0/1:93,71:164:99:1689,0,2208	6	0	1	0
chr17	8263932	8263932	G	A	exonic	PFAS	.	nonsynonymous SNV	PFAS:NM_012393:exon15:c.G1787A:p.R596Q	.	420	1100	2	0	0	2	0.000908265	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.00587271977988	0.0008	0.000798722	0.0006	0	0.0016	0.0001	0	0.0007	0.0034	0	0.0006015	93	154602	rs142452570	0.0006	0.0006	0.0006	0.0006	0.0016	0.0005	0.0005	0.0013	0.0012	0.0002	0.0016	3.827e-05	2.519e-05	0.0001	0	0.0006	0.0007	4.638e-05	0.0005	0.0005	0.0006	0.0004	0.0015	0.0004	0.0004	0.0010	0.0009	0.0002	0	0.0015	0	0.0002	0	0	0.0007	0.0005	0	0.086	0.32610	T	0.188	0.28669	T	0.018	0.17786	B	0.006	0.12133	B	0.001936	0.37643	N	0.290063	0.99407	0.23592	N	-0.045	0.04980	N	1.6	0.28604	T	-0.22	0.10480	N	0.292	0.33030	-1.0150	0.25336	T	0.031	0.13461	T	10	0.019551486	0.00438	T	0.005873	0.15281	T	0.017	0.02790	.	.	0.628234499437	0.62520	0.3298380611727529	0.32896	0.268696464368	0.29385	0.246724843979	0.03431	T	0.038064	0.24707	T	-0.521934	0.00429	T	-0.563031	0.16093	T	0.0233136362323116	0.01061	T	0.812919	0.46506	T	0.028708223	0.02250	0.041239116	0.04641	0.028708223	0.02249	0.041239116	0.04640	-3.717	0.19569	T	.	.	0.070	0.03407	B	.	.	2.310669	0.29574	18.17	0.9949744540126485	0.67801	0.85455	0.44589	D	AEFBI	0.132850	0.25231	N	-0.698266308991744	0.16070	0.8155764	-0.514211870889933	0.21767	1.179093	1.00224251973785E-4	0.04910	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.84	0.244	0.14768	2.129000	0.41677	-0.048000	0.12582	-0.105000	0.15698	1.000000	0.71638	0.000000	0.08366	0.937000	0.47636	0.4804:0.0:0.5196:0.0	8.491	0.32258	500	0.76024	PurM-like, 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	0.000504	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.07143	805.53	31	chr17	8263932	.	G	A	805.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.334;DP=212;ExcessHet=0;FS=9.552;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=17.14;ReadPosRankSum=-0.241;SOR=0.113	GT:AD:DP:GQ:PL	0/1:18,29:47:99:816,0,480	6	0	1	0
chr17	10448871	10448871	A	C	exonic	MYH4	.	nonsynonymous SNV	MYH4:NM_017533:exon31:c.T4358G:p.F1453C	.	36	1483	2	1	0	4	0.0013468	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.931	0.045544129263	.	.	2.472e-05	0	0	0	0	4.498e-05	0	0	1.94e-05	3	154602	rs773113530	1.916e-05	1.915e-05	1.906e-05	1.925e-05	0.0002	1.328e-05	1.144e-05	1.377e-05	1.15e-05	0	0	0	0	0	0.0002	2.068e-05	6.625e-05	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	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.995	0.83170	D	0.001629	0.38439	U	0.000000	0.999997	0.58761	D	3.965	0.96539	H	-1.59	0.82076	D	-4.85	0.81107	D	0.973	0.98368	0.850	0.95023	D	0.794	0.93032	D	10	0.93296146	0.92631	D	0.045544	0.62032	D	0.931	0.98378	0.774	0.90002	0.905763831556	0.90482	0.3974682586606793	0.39661	0.840265320963	0.68025	0.753630697727	0.74982	T	0.622736	0.88199	D	0.303859	0.83273	D	0.390379	0.91793	D	0.926846444606781	0.58935	D	0.964104	0.86689	D	0.17200668	0.37867	0.20557661	0.44734	0.17200668	0.37867	0.20557661	0.44733	-13.892	0.92701	D	.	.	0.505	0.64803	A	.	.	5.043169	0.83952	28.2	0.99317182435414075	0.59241	0.99799	0.99545	D	AEFBI	0.937229	0.93471	D	0.964225524090846	0.94534	12.83263	0.872994943407033	0.94284	12.64317	0.999998801457584	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.11	5.11	0.69188	9.265000	0.94799	9.345000	0.80249	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	1.0:0.0:0.0:0.0	15.192	0.72735	87	0.96348	Myosin tail	.	.	.	.	.	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	2331.44	35	chr17	10448871	.	A	C	2331.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.502;DP=358;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.48;ReadPosRankSum=0.713;SOR=0.724	GT:AD:DP:GQ:PL	0/1:80,93:173:99:2342,0,2024	6	0	1	0
chr17	10516450	10516450	C	T	exonic	MYH1	.	nonsynonymous SNV	MYH1:NM_005963:exon3:c.G193A:p.E65K	.	16	1505	1	0	0	1	0.000332116	.	.	.	3454303	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.446	0.0327008461298	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs544824288	1.984e-05	1.984e-05	1.906e-05	2.063e-05	0.0002	1.392e-05	1.203e-05	1.46e-05	1.227e-05	2.987e-05	0	3.826e-05	0	1.872e-05	0.0002	2.158e-05	1.656e-05	0	3.942e-05	3.94e-05	2.569e-05	5.379e-05	0.0001	1.715e-05	1.129e-05	2.26e-05	9.07e-06	4.825e-05	0	0.0001	0	0	0	0	2.939e-05	0	0	0.335	0.12920	T	0.496	0.11335	T	0.01	0.15535	B	0.035	0.22741	B	0.000453	0.44317	U	0.000000	0.999097	0.46054	D	1.885	0.50048	L	-1.46	0.80983	T	-1.3	0.32590	N	0.574	0.59648	-0.4124	0.71633	T	0.439	0.77758	T	10	0.46627453	0.59589	T	0.032701	0.54453	D	0.446	0.74797	0.403	0.43408	0.772666351829	0.77057	0.4498552981011699	0.44903	0.334221301492	0.35445	0.6377581954	0.58245	T	0.318019	0.68943	T	0.00747978	0.52680	T	-0.144167	0.59755	T	0.798392295837402	0.46244	D	0.941806	0.78262	D	0.15239285	0.34596	0.16806974	0.38738	0.15239285	0.34596	0.16806974	0.38737	-11.292	0.81235	D	.	.	0.174	0.38062	B	.	.	3.849076	0.55744	23.6	0.99677066813935011	0.78977	0.69782	0.34325	D	AEFI	0.502153	0.53469	D	-0.218940825453263	0.32356	1.823919	-0.0963334647911718	0.35541	2.057454	0.963483188380352	0.28694	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.5	5.5	0.81386	3.317000	0.51678	5.938000	0.51432	0.599000	0.40250	0.990000	0.36992	1.000000	0.68203	0.462000	0.28163	0.0:1.0:0.0:0.0	19.592	0.95510	209	0.91859	Myosin, N-terminal, SH3-like|Myosin, N-terminal, SH3-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	5367.44	33	chr17	10516450	.	C	T	5367.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.52;DP=586;ExcessHet=0;FS=4.458;MLEAC=1;MLEAF=0.071;MQ=59.98;MQRankSum=1.09;QD=13.98;ReadPosRankSum=0.266;SOR=0.899	GT:AD:DP:GQ:PL	0/1:176,208:384:99:5378,0,3878	6	0	1	0
chr17	17138116	17138116	C	G	exonic	MPRIP	.	nonsynonymous SNV	MPRIP:NM_001364716:exon7:c.C937G:p.P313A	.	418	1101	3	0	0	3	0.00136054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	.	0.0002	0	0	0	0	0.0003	0.0013	0.0006	0.0001488	23	154602	rs376190965	0.0002	0.0002	0.0002	0.0002	0.0021	0.0002	0.0002	0.0012	0.0009	6.647e-05	5.567e-05	0	0	0	0.0021	0.0002	0.0003	0.0006	0.0002	0.0002	0.0001	0.0002	0.0010	0.0001	0.0001	0.0004	0.0003	0	0	6.556e-05	0	0	0	0.0034	0.0002	0.0014	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	1198.83	36	chr17	17138116	.	C	G	1198.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.95;DP=260;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.18;ReadPosRankSum=0.1;SOR=0.798	GT:AD:DP:GQ:PL	0/1:32,47:79:99:1209,0,635	6	0	1	0
chr17	17577022	17577022	G	T	exonic	PEMT	.	nonsynonymous SNV	PEMT:NM_001267551:exon2:c.C36A:p.D12E,PEMT:NM_001267552:exon2:c.C102A:p.D34E,PEMT:NM_148172:exon2:c.C102A:p.D34E	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.175	0.019271496891	.	.	4.164e-05	0	0	0	0	4.539e-05	0	0.0001	3.23e-05	5	154602	rs745540999	9.583e-06	1.026e-05	6.81e-06	1.238e-05	0.0003	5.56e-06	4.35e-06	6.098e-05	2.523e-05	0	0	0	0	0	0.0003	6.299e-06	1.656e-05	4.639e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.63226	D	0.048	0.48594	D	0.087	0.24971	B	0.095	0.30245	B	0.000007	0.62929	D	0.060940	0.999942	0.51968	D	.	.	.	-1.25	0.79072	T	-1.06	0.27669	N	0.475	0.51048	-0.8430	0.52446	T	0.233	0.59977	T	10	0.31115746	0.48588	T	0.019271	0.41587	T	0.175	0.44197	0.435	0.48664	0.747598145101	0.74532	0.7829718845327404	0.78248	0.160325046818	0.18085	0.516818642616	0.41178	T	.	.	.	-0.234682	0.16035	T	-0.393353	0.34160	T	0.897576510906219	0.54951	D	0.386661	0.16858	T	.	.	.	.	.	.	.	.	-3.091	0.12432	T	.	.	0.283	0.64062	B	.;.;.	.;.;.	2.742202	0.35919	20.1	0.98662361531862319	0.44345	0.15544	0.18964	N	AEFDBIJ	0.144112	0.26699	N	-0.484940393498246	0.22573	1.206312	-0.462662316060171	0.23189	1.263401	0.943551024151223	0.27574	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.31	-0.337	0.12027	0.343000	0.19686	2.233000	0.31547	0.618000	0.50648	0.934000	0.32416	1.000000	0.68203	0.811000	0.38219	0.2877:0.1613:0.3849:0.1661	0.814	0.01029	734	0.53889	.;.;.	.	.	.	.	.	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	1336.63	35	chr17	17577022	.	G	T	1336.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.23;DP=308;ExcessHet=0;FS=4.904;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.62;ReadPosRankSum=0.295;SOR=1.236	GT:AD:DP:GQ:PL	0/1:62,53:115:99:1347,0,1588	6	0	1	0
chr17	32659167	32659167	G	A	exonic	MYO1D	.	nonsynonymous SNV	MYO1D:NM_001303279:exon17:c.C2293T:p.P765S,MYO1D:NM_015194:exon17:c.C2293T:p.P765S	.	430	1062	29	1	0	31	0.0143852	.	.	.	727101	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.553	.	0.0058	0.00479233	0.0028	0.0117	0.0008	0.0003	0	0.0015	0.0044	0.0057	0.0026714	413	154602	rs7209106	0.0016	0.0016	0.0015	0.0018	0.0232	0.0016	0.0016	0.0200	0.0188	0.0136	0.0011	0.0008	7.557e-05	5.616e-05	0.0232	0.0009	0.0029	0.0060	0.0040	0.0040	0.0040	0.0040	0.0112	0.0038	0.0037	0.0104	0.0101	0.0112	0	0.0012	0	0.0004	0	0.0102	0.0013	0.0057	0.0054	0.125	0.27310	T	0.214	0.30143	T	0.776	0.44148	P	0.327	0.41976	B	0.001388	0.39175	U	0.000000	1	0.81001	D	2.285	0.65182	M	-2.23	0.88298	D	-4.8	0.80682	D	0.546	0.57263	0.351	0.88360	D	0.656	0.88023	D	10	0.008619487	0.00195	T	.	.	.	0.553	0.81544	.	.	0.928114125945	0.92738	0.6803579163466393	0.67974	0.425124690016	0.42928	0.49696803093	0.38405	T	0.294422	0.66710	T	-0.14127	0.29687	T	0.0353296	0.72624	D	0.0387319247505161	0.03462	T	0.946205	0.79569	D	0.16669247	0.37021	0.22630909	0.47604	0.16669247	0.37020	0.22630909	0.47603	-5.781	0.44408	T	.	.	0.277	0.54926	B	.;.;.	.;.;.	4.284750	0.65301	24.8	0.99733506155297436	0.82975	0.95800	0.66207	D	AEFGBCI	0.953144	0.96919	D	0.685769160214298	0.78699	6.924677	0.730453856576185	0.84689	8.363094	0.999999999995204	0.74766	0.719381	0.83141	0	0.724815	0.89359	0	0.630245	0.45026	0	0.733575	0.97253	0	.	.	6.07	6.07	0.98675	7.973000	0.87648	11.824000	0.97325	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:0.0:1.0:0.0	18.153	0.89614	917	0.20147	.;.;.	.	.	.	.	.	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	0.007049	0.000000	0.009511	0.011696	0.000000	0.008621	0.006098	0.000000	0.07143	1604.46	34	chr17	32659167	.	G	A	1604.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.816;DP=325;ExcessHet=0;FS=0.64;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.88;ReadPosRankSum=-0.057;SOR=0.613	GT:AD:DP:GQ:PL	0/1:68,67:135:99:1615,0,1597	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	0/1:42,48:90:99:508,0,457	1	0	6	0
chr17	38299392	38299392	C	T	exonic	MRPL45	.	nonsynonymous SNV	MRPL45:NM_001278279:exon3:c.C286T:p.R96C,MRPL45:NM_032351:exon3:c.C286T:p.R96C	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.383	0.0113553758052	.	.	0.0001	0	0	0	0.0008	0.0001	0	6.056e-05	8.41e-05	13	154602	rs769411482	4.248e-05	4.241e-05	3.681e-05	4.82e-05	0.0003	3.382e-05	3.069e-05	6.094e-05	2.522e-05	2.999e-05	0	0	5.044e-05	0.0007	0.0003	1.17e-05	9.947e-05	1.17e-05	7.237e-05	7.225e-05	6.429e-05	8.083e-05	5.881e-05	3.976e-05	3.131e-05	1.972e-05	1.125e-05	0	0	0	0	0	0.0007	0	5.881e-05	0	0	.	.	.	0.001	0.83351	D	.	.	.	.	.	.	0.000000	0.84330	D	0.053401	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.788	0.79986	-0.6554	0.62478	T	0.209	0.56798	T	10	0.5656525	0.65035	D	0.011355	0.28886	T	.	.	.	.	0.718689539657	0.71621	0.7855464482808282	0.78505	.	.	0.655756235123	0.60804	T	.	.	.	0.180926	0.72127	D	0.19124	0.82640	D	0.705269396305084	0.40970	D	0.878612	0.66491	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.270	0.50398	B	.;.	.;.	5.488302	0.91455	32	0.99918644668400824	0.98586	0.88321	0.48196	D	AEFI	0.563332	0.57056	D	0.436759152799787	0.63457	4.579651	0.324948935373937	0.57011	3.865427	0.958812568697583	0.28386	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	4.45	4.45	0.53365	3.459000	0.52786	7.306000	0.58107	0.495000	0.22486	0.998000	0.41325	1.000000	0.68203	0.914000	0.44937	0.0:1.0:0.0:0.0	15.034	0.71393	111	0.95468	.;.	.	.	.	.	.	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	0.008621	0.000000	0.000000	0.07143	696.63	33	chr17	38299392	.	C	T	696.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.197;DP=216;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=58.12;MQRankSum=0.054;QD=13.14;ReadPosRankSum=-0.746;SOR=0.668	GT:AD:DP:GQ:PL	0/1:21,32:53:99:707,0,472	6	0	1	0
chr17	39531138	39531138	A	G	exonic	CDK12	.	nonsynonymous SNV	CDK12:NM_015083:exon14:c.A4268G:p.H1423R,CDK12:NM_016507:exon14:c.A4295G:p.H1432R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.208	0.0209922850152	.	.	9.026e-06	0	0	0	0	1.564e-05	0	0	6.5e-06	1	154602	rs770201826	1.437e-06	1.368e-06	1.415e-06	1.459e-06	1.853e-06	2.4e-07	9e-08	3.1e-07	1.2e-07	0	0	0	0	0	0	1.853e-06	0	0	6.57e-06	6.566e-06	1.285e-05	0	2.413e-05	0	0	.	.	2.413e-05	0	0	0	0	0	0	0	0	0	0.102	0.34982	T	0.485	0.11725	T	0.982	0.60036	D	0.662	0.52860	P	0.000107	0.50451	D	0.000000	0.675129	0.30329	N	.	.	.	-0.36	0.68754	T	-1.82	0.42763	N	0.159	0.31027	-0.6483	0.62788	T	0.206	0.56417	T	10	0.25347626	0.42715	T	0.020992	0.43686	T	0.208	0.49714	0.476	0.55342	0.451585352066	0.44779	0.415948601321474	0.41510	0.486747575308	0.47525	0.675791859627	0.63665	T	0.127923	0.45525	T	-0.0782269	0.40002	T	-0.350144	0.39189	T	0.521994352340698	0.33439	D	0.623938	0.24053	T	0.14303607	0.32892	0.15133989	0.35654	0.14303607	0.32892	0.15133989	0.35653	-2.626	0.06703	T	.	.	0.101	0.17360	B	.;.	.;.	3.491330	0.48798	22.7	0.7973399157833746	0.12876	0.98125	0.79812	D	AEFDBI	0.446605	0.50260	N	0.25131505965258	0.53704	3.53816	0.321704560875158	0.56817	3.845722	0.993002009949497	0.33049	0.722319	0.85440	0	0.702456	0.74545	0	0.697927	0.64325	0	0.735409	0.98432	0	.	.	5.54	4.46	0.53567	3.692000	0.54460	7.875000	0.72177	0.756000	0.94297	0.999000	0.42656	1.000000	0.68203	1.000000	0.97212	0.9289:0.0:0.0711:0.0	11.446	0.49365	313	0.87327	.;.	.	.	.	.	.	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	1225.49	37	chr17	39531138	.	A	G	1225.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.809;DP=277;ExcessHet=0;FS=6.562;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.9;ReadPosRankSum=2.11;SOR=1.083	GT:AD:DP:GQ:PL	0/1:45,50:95:99:1236,0,1241	6	0	1	0
chr17	41026663	41026663	G	A	exonic	KRTAP1-5	.	nonsynonymous SNV	KRTAP1-5:NM_031957:exon1:c.C493T:p.R165C	.	.	.	.	.	.	.	.	.	.	.	3445766	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.399	0.00618211166299	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1331853620	5.498e-06	5.472e-06	2.731e-06	8.303e-06	2.998e-05	2.37e-06	1.71e-06	8.5e-07	5.7e-07	2.998e-05	2.253e-05	3.876e-05	0	0	0	3.612e-06	0	1.165e-05	6.579e-06	6.569e-06	1.286e-05	0	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.0	0.91255	D	0.009	0.66756	D	1.0	0.90584	D	0.993	0.81110	D	.	.	.	.	0.999955	0.52396	D	3.345	0.91022	M	0.82	0.48142	T	-6.89	0.93257	D	0.312	0.35194	-0.0133	0.81979	T	0.404	0.75430	T	9	0.5782145	0.65701	D	0.006182	0.16200	T	0.399	0.71321	0.765	0.89293	0.564282080094	0.56091	0.18477358477626463	0.18395	0.0906683578425	0.10232	0.332523107529	0.15315	T	0.057179	0.30495	T	0.0254688	0.55116	T	-0.118327	0.61939	T	0.965057836062489	0.67148	D	.	.	.	0.4525837	0.64205	0.44588062	0.67721	0.4525837	0.64205	0.44588062	0.67721	-5.396	0.40881	T	.	.	0.305	0.53347	B	.	.	4.608368	0.73054	25.9	0.99671500318315565	0.78652	0.77909	0.38364	D	AEFGBHCI	0.552678	0.56424	D	0.87067159797257	0.90250	10.31974	0.792472916039801	0.89264	9.904683	0.99999978113527	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.4	5.4	0.77957	4.161000	0.57954	3.274000	0.37181	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:0.0:1.0:0.0	15.034	0.71390	432	0.80690	.	.	.	.	.	.	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	1643.44	34	chr17	41026663	.	G	A	1643.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.256;DP=358;ExcessHet=0;FS=1.386;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.64;ReadPosRankSum=-1.631;SOR=0.569	GT:AD:DP:GQ:PL	0/1:63,67:130:99:1654,0,1449	6	0	1	0
chr17	41487406	41487406	T	A	exonic	KRT36	.	nonsynonymous SNV	KRT36:NM_003771:exon5:c.A932T:p.E311V	.	411	1064	45	2	0	49	0.022508	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.826	.	0.0004	0.00239617	0.0022	0.0005	0.0020	0.0001	0	0.0011	0.0045	0.0099	0.0019599	303	154602	rs139865124	0.0015	0.0015	0.0011	0.0019	0.0346	0.0015	0.0015	0.0306	0.0291	0.0008	0.0015	0.0038	2.519e-05	3.747e-05	0.0346	0.0006	0.0028	0.0115	0.0009	0.0010	0.0007	0.0012	0.0133	0.0008	0.0008	0.0107	0.0097	0.0001	0	0.0008	0.0020	0.0002	0	0.0306	0.0006	0.0028	0.0133	0.0	0.91255	D	0.001	0.92824	D	1.0	0.90584	D	0.994	0.82059	D	0.000097	0.51296	D	0.000000	0.999452	0.47118	D	3.995	0.96723	H	-2.83	0.91249	D	-6.56	0.91868	D	0.43	0.46928	1.054	0.98202	D	0.904	0.96822	D	10	0.012003839	0.00260	T	.	.	.	0.826	0.94466	.	.	0.922751822367	0.92196	0.5184686235104664	0.51769	0.841499628606	0.68094	0.47562456131	0.35455	T	0.584972	0.86467	D	0.123324	0.66705	D	0.413765	0.92547	D	0.155424858219359	0.17527	T	0.817618	0.47476	T	0.8597732	0.88068	0.89466405	0.94597	0.8597732	0.88069	0.89466405	0.94598	-11.675	0.83232	D	.	.	0.557	0.67081	A	.;.	.;.	4.570543	0.72107	25.8	0.99565129901665927	0.72014	0.94864	0.62595	D	AEFDGBCI	0.765615	0.70205	D	0.920670767402718	0.92734	11.59737	0.843328895874802	0.92620	11.53265	0.999899793254436	0.45129	0.59774	0.34471	0	0.610034	0.51514	0	0.596491	0.31596	0	0.584449	0.35598	0	.	.	5.95	5.95	0.96415	3.203000	0.50777	7.780000	0.68649	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.925000	0.46118	0.0:0.0:0.0:1.0	16.407	0.83516	445	0.79730	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod 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	0.022155	0.005051	0.025815	0.052632	0.000000	0.025862	0.003049	0.022727	0.07143	3596.44	38	chr17	41487406	.	T	A	3596.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.427;DP=452;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.17;ReadPosRankSum=-2.575;SOR=0.68	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:141,96:237:99:0|1:41487406_T_A:3607,0,5622:41487406	6	0	1	0
chr17	41487407	41487407	C	A	exonic	KRT36	.	stopgain	KRT36:NM_003771:exon5:c.G931T:p.E311X	.	411	1063	46	2	0	50	0.0229779	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.00239617	0.0022	0.0005	0.0020	0.0001	0	0.0011	0.0045	0.0099	0.0019599	303	154602	rs145372311	0.0015	0.0015	0.0011	0.0019	0.0346	0.0015	0.0015	0.0306	0.0291	0.0008	0.0016	0.0038	2.519e-05	3.748e-05	0.0346	0.0006	0.0028	0.0116	0.0009	0.0010	0.0007	0.0012	0.0133	0.0008	0.0008	0.0107	0.0097	0.0001	0	0.0008	0.0020	0.0002	0	0.0306	0.0006	0.0028	0.0133	.	.	.	.	.	.	.	.	.	.	.	.	0.000097	0.51296	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.136	0.15749	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.237408	0.77415	D	0.577639	0.96417	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.	High;.	10.308796	0.99688	46	0.9978149732722128	0.86780	0.97345	0.74163	D	AEFDGBCI	0.278041	0.39242	N	1.22290231108648	0.99733	25.95499	1.09354310977779	0.99756	26.34876	0.999999598163311	0.74766	0.59774	0.34471	0	0.610034	0.51514	0	0.596491	0.31596	0	0.584449	0.35598	0	.	.	5.95	5.95	0.96415	5.814000	0.68884	7.566000	0.60594	0.599000	0.40250	0.999000	0.42656	1.000000	0.68203	0.938000	0.47775	0.0:1.0:0.0:0.0	20.378	0.98924	445	0.79730	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod 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	0.022155	0.005051	0.025815	0.052632	0.000000	0.025862	0.003049	0.022727	0.07143	3596.44	38	chr17	41487407	.	C	A	3596.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.86;DP=453;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.17;ReadPosRankSum=-2.492;SOR=0.68	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:141,96:237:99:0|1:41487406_T_A:3607,0,5622:41487406	6	0	1	0
chr17	41725143	41725143	C	T	exonic	HAP1	.	nonsynonymous SNV	HAP1:NM_001079870:exon10:c.G1367A:p.R456H,HAP1:NM_001079871:exon10:c.G1343A:p.R448H,HAP1:NM_001367461:exon10:c.G1343A:p.R448H,HAP1:NM_001367459:exon11:c.G1514A:p.R505H,HAP1:NM_001367460:exon11:c.G1478A:p.R493H,HAP1:NM_177977:exon11:c.G1418A:p.R473H	.	408	1107	6	1	0	8	0.00360036	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.00352523784323	7.7e-05	0.000599042	0.0002	0	0.0003	0	0	6.242e-05	0.0012	0.0013	0.0002393	37	154602	rs374915588	0.0002	0.0002	0.0001	0.0002	0.0018	0.0001	0.0001	0.0016	0.0015	0	0.0004	8.271e-05	0	1.981e-05	0.0013	4.57e-05	0.0002	0.0018	0.0001	0.0001	0.0001	8.061e-05	0.0012	7.09e-05	5.746e-05	0.0005	0.0004	2.408e-05	0	0.0005	0	0	0	0	2.94e-05	0	0.0012	0.037	0.43708	D	0.014	0.64786	D	0.027	0.27347	B	0.009	0.19653	B	0.429161	0.04694	N	1.485280	1	0.08975	N	0.805	0.20218	L	3.09	0.08371	T	-1.61	0.38734	N	0.069	0.04426	-0.9600	0.39181	T	0.017	0.07045	T	10	0.012384951	0.00266	T	0.003525	0.08000	T	0.022	0.04323	.	.	0.303123707472	0.29912	0.01976790684104505	0.01929	0.412298290738	0.41975	0.23297084868	0.02195	T	0.092321	0.38979	T	-0.728488	0.00024	T	-0.826463	0.01326	T	0.0314738497580105	0.02221	T	0.528347	0.17878	T	0.027514383	0.01954	0.0198511	0.00107	0.027514383	0.01954	0.0198511	0.00107	-3.796	0.20745	T	.	.	0.079	0.12037	B	.;.;.;.	.;.;.;.	0.679852	0.10482	7.199	0.91957993314717756	0.21286	0.01994	0.06016	N	AEFBI	0.032889	0.03797	N	-1.02054594913114	0.08178	0.3825429	-1.11251719714371	0.07460	0.3629677	1.17746218220974E-5	0.02871	0.646311	0.45356	0	0.59043	0.45803	0	0.645312	0.48771	0	0.542086	0.14980	0	.	.	2.49	0.348	0.15264	-0.854000	0.04407	-3.385000	0.02827	0.542000	0.25261	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.6993:0.0:0.3007	5.17	0.14432	550	0.72197	.;.;.;.	.	.	.	.	.	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	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.07143	574.53	37	chr17	41725143	.	C	T	574.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.67;DP=230;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.49;ReadPosRankSum=1.34;SOR=0.593	GT:AD:DP:GQ:PL	0/1:24,22:46:99:585,0,567	6	0	1	0
chr17	44385668	44385668	C	T	exonic	ITGA2B	.	nonsynonymous SNV	ITGA2B:NM_000419:exon4:c.G457A:p.A153T	Bleeding disorder, platelet-type, 16, autosomal dominant, Autosomal dominant;Glanzmann thrombasthenia, Autosomal recessive;Thrombocytopenia, neonatal alloimmune, BAK antigen related (3)	0	1518	4	0	0	4	0.00131579	.	.	.	622443	Glanzmann_thrombasthenia|not_specified|ITGA2B-related_disorder|Inborn_genetic_diseases|not_provided	MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:849|MedGen:CN169374|.|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	reviewed_by_expert_panel	Uncertain_significance	.	.	.	.	.	.	.	.	0.456	0.284878363579	0.0002	.	0.0002	0	0	0	0	0.0003	0	0.0002	0.0001552	24	154602	rs199641871	0.0001	0.0001	0.0001	0.0001	0.0003	0.0001	0.0001	0.0001	0.0001	2.987e-05	0.0002	3.826e-05	0	0	0.0003	0.0001	9.937e-05	8.116e-05	0.0001	0.0001	0.0001	0.0001	0.0003	9.139e-05	7.696e-05	0.0002	0.0002	2.405e-05	0	6.532e-05	0	0	0	0	0.0003	0	0	0.062	0.36912	T	0.026	0.55759	D	0.999	0.77913	D	0.968	0.71741	D	0.003523	0.34820	N	0.000000	0.999902	0.50806	D	1.87	0.49600	L	-1.94	0.84919	D	-1.51	0.36787	N	0.524	0.55366	0.484	0.90317	D	0.707	0.89940	D	10	0.62053525	0.67951	D	0.284878	0.90361	D	0.456	0.75483	.	.	0.904090970591	0.90313	0.6724900148294761	0.67187	2.03962625952	0.94218	0.511914253235	0.40490	T	0.056829	0.30398	T	-0.112996	0.34275	T	-0.105252	0.62988	T	0.764503061771393	0.44113	D	0.774123	0.40598	T	0.21411282	0.43808	0.23713428	0.49003	0.21411282	0.43808	0.23713428	0.49002	-8.445	0.64064	D	0.3219416257928513	0.42008	0.224	0.45593	B	.	.	3.874412	0.56268	23.7	0.99900229589431222	0.97199	0.93434	0.58206	D	ALL	0.553266	0.56459	D	0.595965147244658	0.72923	5.88262	0.539157938294958	0.70646	5.535965	0.999999999999847	0.74766	0.437478	0.07067	0	0.606814	0.50340	0	0.503968	0.08637	0	0.603991	0.37454	0	.	.	5.55	5.55	0.83298	4.415000	0.59561	2.659000	0.33867	0.524000	0.24156	0.999000	0.42656	0.984000	0.30665	0.077000	0.17074	0.1729:0.8271:0.0:0.0	12.002	0.52530	508	0.75398	.	.	.	.	.	.	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	1701.46	34	chr17	44385668	.	C	T	1701.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.031;DP=321;ExcessHet=0;FS=2.262;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.89;ReadPosRankSum=-1.204;SOR=0.488	GT:AD:DP:GQ:PL	0/1:62,70:132:99:1712,0,1489	6	0	1	0
chr17	44904956	44904956	C	T	exonic	FAM187A	.	nonsynonymous SNV	FAM187A:NM_001258400:exon1:c.C1127T:p.S376L	.	425	1033	62	2	0	66	0.0309568	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	.	.	0.00259585	0.0091	0.0011	0.0068	0	0	0.0013	0.0146	0.0181	0.0013713	212	154602	rs555402721	0.0023	0.0022	0.0017	0.0028	0.0176	0.0022	0.0022	0.0168	0.0165	0.0002	0.0009	0.0004	2.798e-05	0.0007	0.0114	0.0013	0.0028	0.0176	0.0016	0.0016	0.0014	0.0019	0.0172	0.0015	0.0014	0.0142	0.0131	0.0002	0	0.0023	0	0.0002	0.0004	0.0170	0.0016	0.0043	0.0172	0.465	0.08609	T	0.62	0.07444	T	0.103	0.25884	B	0.01	0.14941	B	0.369594	0.04354	N	1.395560	1	0.08975	N	1.7	0.43825	L	0.97	0.42502	T	-1.04	0.27259	N	0.175	0.18784	-1.0236	0.22541	T	0.051	0.21883	T	9	0.004670471	0.00098	T	.	.	.	0.069	0.20116	.	.	0.447609009685	0.44385	0.5473808828241131	0.54664	.	.	0.285807311535	0.08314	T	0.008464	0.07774	T	-0.616405	0.00116	T	-0.64392	0.09385	T	0.0016297578096169	0.00017	T	0.733627	0.34942	T	0.042301055	0.06391	0.033432566	0.02237	0.042301055	0.06391	0.033432566	0.02236	-2.481	0.05653	T	.	.	0.094	0.14523	B	.	.	1.401737	0.18160	13.58	0.63598281148254254	0.07266	0.13302	0.17779	N	AEFDGBHCI	.	.	.	-0.809649728053484	0.13063	0.6409545	-0.827799331297762	0.13823	0.7191289	0.999999166461778	0.74766	0.615465	0.37627	0	0.563428	0.19063	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.54	2.32	0.27895	0.358000	0.19952	2.301000	0.32018	0.599000	0.40250	0.000000	0.06391	0.011000	0.20116	0.043000	0.14563	0.2172:0.4511:0.0:0.3317	4.057	0.09301	764	0.49969	.	.	.	.	.	.	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	2202.45	41	chr17	44904956	.	C	T	2202.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.427;DP=380;ExcessHet=0;FS=0.553;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.37;ReadPosRankSum=-1.068;SOR=0.778	GT:AD:DP:GQ:PL	0/1:87,91:178:99:2213,0,2100	6	0	1	0
chr17	46555175	46555175	G	A	exonic	LRRC37A2	.	stopgain	LRRC37A2:NM_001006607:exon12:c.G4883A:p.W1628X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1349736821	8.778e-06	9.889e-06	4.792e-06	1.276e-05	1.274e-05	4.71e-06	3.44e-06	3.57e-06	2.58e-06	0	0	0	0	0	0	8.294e-06	3.863e-05	1.274e-05	3.292e-05	2.395e-05	0	7.084e-05	5.237e-05	5.46e-06	2.04e-06	8.68e-06	3.25e-06	0	0	0	0	0	0	0	5.237e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.54805	N	.	.	.	.	.	.	.	.	.	0.039	0.01421	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119294	0.66301	D	-0.0664183	0.65880	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant;Tolerant	High;High	3.389971	0.46927	22.4	0.85195194456660539	0.15743	0.00137	0.00841	N	AEFI	0.015480	0.00297	N	-0.276315027403667	0.30066	1.673016	-0.758077260106532	0.15523	0.8168678	1.78346404064638E-5	0.02871	0.706298	0.61202	0	0.709663	0.81188	0	0.659464	0.59346	0	0.668105	0.65232	0	.	.	2.28	-4.44	0.03308	-1.608000	0.02171	-6.099000	0.01497	-1.325000	0.01222	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5562:0.2126:0.2311:0.0	4.320	0.10452	457	0.78953	.;.	.	.	.	.	.	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	710.28	41	chr17	46555175	.	G	A	710.28	.	AC=1;AF=0.083;AN=12;BaseQRankSum=7.32;DP=304;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=27.26;MQRankSum=0;QD=7.25;ReadPosRankSum=0.978;SOR=0.217	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:66,32:98:99:0|1:46555174_T_C:720,0,1779:46555174	5	0	1	1
chr17	50539245	50539245	T	C	exonic	EPN3	.	nonsynonymous SNV	EPN3:NM_017957:exon5:c.T821C:p.V274A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	0.002299916849	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.762	0.03461	T	0.801	0.04091	T	0.0	0.02946	B	0.001	0.04355	B	0.281288	0.03835	N	1.500450	1	0.08975	N	-0.55	0.02420	N	2.63	0.12884	T	0.23	0.04613	N	0.091	0.06990	-0.9748	0.36170	T	0.055	0.23224	T	10	0.055235207	0.06004	T	0.002	0.04424	T	0.020	0.03691	.	.	0.141422826196	0.13715	0.14969104821891913	0.14891	0.197257778843	0.22098	0.30322059989	0.10883	T	0.038043	0.24699	T	-0.378428	0.03187	T	-0.781362	0.02412	T	0.0261142328381538	0.01421	T	0.361264	0.08331	T	0.023051906	0.01012	0.03291505	0.02102	0.023051906	0.01012	0.03291505	0.02102	-2.364	0.04917	T	.	.	0.064	0.06525	B	.;.	.;.	-0.866079	0.00983	0.039	0.37470179724221536	0.02471	0.00776	0.03192	N	AEFGBI	0.060362	0.11466	N	-1.64135893924676	0.01072	0.04652118	-1.75333250922679	0.00921	0.04119388	0.999999998344972	0.74766	0.695654	0.57023	0	0.59043	0.45803	0	0.723109	0.80598	0	0.567892	0.33627	0	.	.	4.12	-8.25	0.00899	-1.906000	0.01681	-0.726000	0.07683	-0.242000	0.07441	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.6395:0.2285:0.132	12.100	0.53077	941	0.13089	.;.	.	.	.	.	.	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	806.49	34	chr17	50539245	.	T	C	806.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.18;DP=249;ExcessHet=0;FS=2.056;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.41;ReadPosRankSum=-1.005;SOR=0.895	GT:AD:DP:GQ:PL	0/1:31,34:65:99:817,0,680	6	0	1	0
chr17	53824436	53824436	G	A	exonic	KIF2B	.	nonsynonymous SNV	KIF2B:NM_032559:exon1:c.G1403A:p.G468E	.	430	1073	19	0	0	19	0.00877598	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.595	.	0.0045	0.00299521	0.0068	0.0008	0.0015	0	0.0183	0.0081	0.0111	0.0077	0.0062806	971	154602	rs116955880	0.0052	0.0052	0.0050	0.0053	0.0069	0.0051	0.0050	0.0061	0.0059	0.0006	0.0025	0.0205	0	0.0178	0.0069	0.0045	0.0058	0.0065	0.0054	0.0054	0.0048	0.0060	0.0054	0.0051	0.0050	0.0049	0.0047	0.0010	0.0351	0.0029	0.0199	0	0.0221	0.0068	0.0054	0.0033	0.0052	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.000360	0.45440	D	0.000000	1	0.81001	D	3.16	0.88528	M	2.15	0.19311	T	-6.88	0.93217	D	0.872	0.86941	-0.9210	0.45417	T	0.123	0.42568	T	10	0.01529488	0.00321	T	.	.	.	0.595	0.83911	.	.	0.785192115575	0.78320	0.48270145997477754	0.48190	0.574742739539	0.53493	0.604172229767	0.53493	T	0.481495	0.81004	T	-0.0579693	0.43226	T	0.14782	0.80047	D	0.0499396089668845	0.05490	T	0.985551	0.95064	D	0.9738244	0.98605	0.9704506	0.99484	0.9738244	0.98605	0.9704506	0.99485	-8.791	0.66342	D	.	.	0.215	0.44475	B	.	.	4.982468	0.82536	27.8	0.99815846560092891	0.89885	0.96907	0.71592	D	AEFBCI	0.923341	0.89967	D	0.962343616817941	0.94462	12.77724	0.945775358127899	0.97275	15.86231	0.999999884424289	0.74766	0.525926	0.21836	0	0.573888	0.26702	0	0.573888	0.23631	0	0.584449	0.35598	0	.	.	5.73	5.73	0.89730	10.003000	0.99689	6.631000	0.56152	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0:1.0:0.0	19.258	0.93940	888	0.27761	Kinesin motor domain|Kinesin motor domain|Kinesin motor 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	0.006546	0.000000	0.006793	0.000000	0.050000	0.000000	0.006098	0.018939	0.07143	958.25	37	chr17	53824436	.	G	A	958.25	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.619;DP=319;ExcessHet=0;FS=1.717;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.27;ReadPosRankSum=1.46;SOR=0.483	GT:AD:DP:GQ:PL	0/1:48,37:85:99:954,0,1446	6	0	1	0
chr17	57849289	57849289	C	T	exonic	MRPS23	.	nonsynonymous SNV	MRPS23:NM_016070:exon2:c.G166A:p.A56T	.	431	1082	9	0	0	9	0.00414174	.	.	.	2907307	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.027	0.00589887765943	0.0002	.	0.0007	0	0	0	0	0.0007	0.0022	0.0020	0.0005886	91	154602	rs149290593	0.0006	0.0006	0.0005	0.0006	0.0018	0.0005	0.0005	0.0016	0.0015	0	0.0001	0.0043	0	0	0.0012	0.0004	0.0007	0.0018	0.0004	0.0004	0.0003	0.0004	0.0008	0.0003	0.0003	0.0003	0.0003	2.405e-05	0	0.0001	0.0040	0	0	0.0034	0.0005	0.0005	0.0008	0.188	0.21304	T	0.425	0.13912	T	0.711	0.42090	P	0.264	0.39629	B	0.000639	0.42799	D	0.265315	0.512619	0.31831	D	2.175	0.60977	M	.	.	.	-0.82	0.22508	N	0.198	0.22098	-0.8851	0.49349	T	0.093	0.35363	T	9	0.009046525	0.00205	T	0.005899	0.15371	T	0.027	0.05988	.	.	0.42538462244	0.42159	0.4361992380045958	0.43536	0.194094060147	0.21745	0.412172347307	0.26758	T	0.020394	0.16063	T	-0.458487	0.01005	T	-0.450376	0.27656	T	0.0235781740017808	0.01093	T	0.687931	0.30167	T	0.07098471	0.15680	0.07776562	0.17356	0.08269517	0.19061	0.07897474	0.17737	-3.181	0.12250	T	.	.	0.102	0.18206	B	.;.	.;.	2.916566	0.38706	20.8	0.99894193891930172	0.96742	0.62965	0.31943	D	AEFDGBHCI	0.072144	0.14389	N	0.147367657306187	0.48689	3.077984	0.245644909185354	0.52402	3.41525	0.999999999999146	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.685571	0.62057	0	0.638787	0.57140	0	.	.	5.86	4.89	0.63387	1.904000	0.39498	2.610000	0.33572	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.967000	0.53440	0.0:0.8358:0.0:0.1641	9.168	0.36227	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	0	0	1	0	0.002518	0.000000	0.000000	0.008772	0.000000	0.008621	0.006098	0.000000	0.07143	1410.45	35	chr17	57849289	.	C	T	1410.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.768;DP=298;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.95;ReadPosRankSum=0.135;SOR=0.689	GT:AD:DP:GQ:PL	0/1:55,63:118:99:1421,0,1397	6	0	1	0
chr17	61968034	61968034	C	G	splicing	MED13	NM_005121:exon18:c.4191+1G>C	.	.	.	.	.	.	.	.	.	.	1.0000	0.938	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.588e-05	0.0003	2.232e-05	2.945e-05	3.23e-05	1.91e-05	1.667e-05	2.345e-05	2.075e-05	3.058e-05	0	0	0	0	0	3.23e-05	1.685e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.434982	0.91780	D	0.387045	0.91678	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.230299	0.94839	34	0.99425828103495784	0.63984	0.99078	0.90902	D	AEFDGBI	.	.	.	1.18346581302745	0.99385	22.32749	1.03762206024886	0.99231	21.357	0.999999999803192	0.74766	0.156188	0.03335	0	0.156173	0.03658	0	0.128073	0.03558	0	0.089874	0.02613	0	0.978971	0.83387	5.44	5.44	0.79348	7.568000	0.81546	7.706000	0.66547	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	19.245	0.93883	91	0.96221	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.3	104.44	22	chr17	61968034	.	C	G	104.44	.	AC=3;AF=0.3;AN=10;BaseQRankSum=-0.463;DP=167;ExcessHet=1.7609;FS=163.355;MLEAC=3;MLEAF=0.3;MQ=60;MQRankSum=0;QD=0.92;ReadPosRankSum=0.325;SOR=7.568	GT:AD:DP:GQ:PL	0/1:30,15:45:25:25,0,340	2	0	3	2
chr17	63872555	63872555	C	T	exonic	CSH2	.	nonsynonymous SNV	CSH2:NM_022644:exon4:c.G478A:p.A160T	.	0	1505	16	0	1	17	0.00528751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.135	0.00958917424235	0.0003	0.00179712	0.0013	0.0004	0.0026	0	0	0.0011	0.0033	0.0027	0.0013777	213	154602	rs1811082	0.0007	0.0011	0.0006	0.0007	0.0075	0.0006	0.0006	0.0057	0.0051	0.0004	0.0020	0.0029	0.0001	0	0.0075	0.0005	0.0013	0.0019	0.0009	0.0011	0.0010	0.0008	0.0025	0.0008	0.0007	0.0019	0.0016	0.0003	0	0.0025	0.0055	0	9.429e-05	0.0103	0.0008	0.0033	0.0015	0.028	0.46129	D	0.058	0.46182	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-2.35	0.88066	D	-0.09	0.08340	N	0.054	0.02559	-0.8368	0.52858	T	0.242	0.61060	T	8	0.006950289	0.00158	T	0.009589	0.25085	T	0.135	0.36572	.	.	0.0846915920261	0.08053	.	.	.	.	.	.	.	.	.	.	-0.414725	0.01850	T	-0.375764	0.36217	T	0.00215468234746831	0.00022	T	0.234876	0.03235	T	.	.	.	.	.	.	.	.	-3.692	0.19200	T	.	.	0.083	0.09433	B	.	.	0.589305	0.09576	6.353	0.72068831384837162	0.09845	0.00182	0.01064	N	AEFI	0.016340	0.00362	N	-1.64488747935536	0.01057	0.04585317	-1.68511492327851	0.01204	0.05423025	2.46848498165473E-5	0.03498	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	3.07	-2.18	0.06643	-0.184000	0.09693	-0.664000	0.07966	-0.962000	0.01975	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2471:0.1768:0.3735:0.2027	0.605	0.00702	875	0.30485	.	.	.	.	.	.	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	0.007431	0.005051	0.012228	0.008197	0.000000	0.017241	0.000000	0.000000	0.07143	1919.46	33	chr17	63872555	.	C	T	1919.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.456;DP=370;ExcessHet=0;FS=4.142;MLEAC=1;MLEAF=0.071;MQ=55.17;MQRankSum=-1.423;QD=10;ReadPosRankSum=2.29;SOR=0.502	GT:AD:DP:GQ:PL	0/1:103,89:192:99:1930,0,2435	6	0	1	0
chr17	64001113	64001113	-	GAG	exonic	PRR29	.	nonframeshift insertion	PRR29:NM_001164257:exon4:c.273_274insGAG:p.E97_M98insE,PRR29:NM_001191029:exon4:c.273_274insGAG:p.E97_M98insE,PRR29:NM_001191030:exon4:c.252_253insGAG:p.E90_M91insE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	.	5.688e-05	0	0	0	0	0.0001	0	0	0.0001153	3	26028	rs747968978	2.816e-05	3.42e-05	3.136e-05	2.487e-05	0.0002	2.108e-05	1.851e-05	7.315e-05	4.945e-05	6.331e-05	0.0002	0	0	0	0	2.318e-05	3.45e-05	5.049e-05	7.894e-05	7.882e-05	0.0001	5.386e-05	0.0005	4.501e-05	3.516e-05	0.0003	0.0002	2.416e-05	0	0.0005	0	0	0	0	2.941e-05	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	887.5	34	chr17	64001113	.	T	TGAG	887.5	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.232;DP=236;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.09;ReadPosRankSum=-1.097;SOR=0.575	GT:AD:DP:GQ:PL	0/1:38,25:63:99:898,0,1510	6	0	1	0
chr17	67108567	67108567	A	G	exonic	HELZ	.	nonsynonymous SNV	HELZ:NM_001330447:exon30:c.T4652C:p.L1551S,HELZ:NM_014877:exon30:c.T4649C:p.L1550S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.338	0.0729094708216	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.186	0.28860	T	0.003	0.11197	B	0.003	0.08700	B	0.012393	0.29191	N	0.253488	0.609882	0.30869	N	1.95	0.52479	M	-1.81	0.83970	D	-0.47	0.15178	N	0.519	0.72567	-0.3177	0.74486	T	0.408	0.75720	T	10	0.28030685	0.45605	T	0.072909	0.71654	D	0.338	0.66010	0.27	0.21893	0.413703809202	0.40986	0.42845633616725615	0.42762	0.227569891846	0.25311	0.477938324213	0.35773	T	0.087813	0.38023	T	0.0966137	0.63924	D	-0.0989976	0.63475	T	0.795246541500092	0.46034	D	0.675632	0.28413	T	0.07554357	0.17026	0.094760336	0.22445	0.07554357	0.17025	0.094760336	0.22444	-4.523	0.31188	T	.	.	0.172	0.39832	B	.;.	.;.	2.412281	0.31007	18.61	0.96393672572642108	0.29661	0.96217	0.68073	D	AEFDGBIJ	0.533942	0.55318	D	-0.196119827586313	0.33295	1.887365	-0.0510689803232702	0.37444	2.192464	0.999999999937428	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.27	4.19	0.48645	6.372000	0.73058	7.951000	0.75833	0.743000	0.86499	0.988000	0.36536	0.969000	0.29651	0.918000	0.45347	0.9263:0.0:0.0737:0.0	10.943	0.46495	550	0.72197	.;.	.	.	.	.	.	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	1845.44	92	chr17	67108567	.	A	G	1845.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.24;DP=634;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.39;ReadPosRankSum=-1.299;SOR=0.718	GT:AD:DP:GQ:PL	0/1:74,75:149:99:1856,0,1725	6	0	1	0
chr17	68356690	68356690	C	T	exonic	ARSG	.	nonsynonymous SNV	ARSG:NM_001352909:exon5:c.C542T:p.T181I,ARSG:NM_001267727:exon6:c.C590T:p.T197I,ARSG:NM_001352899:exon6:c.C590T:p.T197I,ARSG:NM_001352900:exon6:c.C590T:p.T197I,ARSG:NM_001352901:exon6:c.C590T:p.T197I,ARSG:NM_001352902:exon6:c.C590T:p.T197I,ARSG:NM_001352903:exon6:c.C590T:p.T197I,ARSG:NM_001352904:exon6:c.C590T:p.T197I,ARSG:NM_001352905:exon6:c.C590T:p.T197I,ARSG:NM_001352906:exon6:c.C590T:p.T197I,ARSG:NM_001352907:exon6:c.C590T:p.T197I,ARSG:NM_001352910:exon6:c.C590T:p.T197I,ARSG:NM_014960:exon6:c.C590T:p.T197I	.	426	1095	1	0	0	1	0.000456413	.	.	YES	2006189	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.058	0.0147712419972	.	.	3.297e-05	0	0	0	0	1.499e-05	0	0.0002	2.59e-05	4	154602	rs762906940	9.577e-06	9.577e-06	6.806e-06	1.238e-05	0.0002	5.56e-06	4.35e-06	4.578e-05	3.272e-05	0	0	0	0	0	0.0002	3.597e-06	1.656e-05	9.275e-05	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	.	.	.	0.201	0.38160	T	0.005	0.12996	B	0.008	0.13708	B	0.629527	0.05803	N	1.308390	1	0.08975	N	1.15	0.29295	L	-3.28	0.93691	D	.	.	.	0.286	0.33904	-1.0173	0.24592	T	0.077	0.30951	T	9	0.09891325	0.17916	T	0.014771	0.35101	T	0.058	0.16647	0.508	0.60386	0.57252228419	0.56919	0.8073345934197095	0.80688	0.378805878549	0.39287	0.320444822311	0.13488	T	0.437627	0.78358	T	-0.174121	0.24615	T	-0.251221	0.49697	T	0.0165909361094236	0.00420	T	0.825917	0.48908	T	0.058415044	0.11747	0.05818114	0.10706	0.058415044	0.11747	0.05818114	0.10705	-6.184	0.47793	T	.	.	0.188	0.43815	B	.;.;.	.;.;.	2.046652	0.26021	16.97	0.97238264818001519	0.32983	0.10571	0.16040	N	ALL	0.050109	0.08725	N	-0.799317819815654	0.13327	0.6557898	-0.751961686350256	0.15674	0.8255256	0.999999999997883	0.74766	0.615465	0.37627	0	0.560097	0.17682	1	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.38	1.98	0.25351	0.014000	0.13228	0.985000	0.23152	0.596000	0.33519	0.000000	0.06391	0.000000	0.08366	0.530000	0.29707	0.0:0.7494:0.0:0.2506	9.090	0.35764	914	0.21048	Sulfatase, N-terminal;Sulfatase, N-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	1	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	1119.83	34	chr17	68356690	.	C	T	1119.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.252;DP=275;ExcessHet=0;FS=2.581;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.09;ReadPosRankSum=-1.539;SOR=0.462	GT:AD:DP:GQ:PL	0/1:51,50:101:99:1130,0,1227	6	0	1	0
chr17	69088219	69088219	A	C	exonic	ABCA6	.	nonsynonymous SNV	ABCA6:NM_080284:exon28:c.T3646G:p.C1216G	.	454	1045	18	5	0	28	0.01322	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.555	0.0492893968447	0.0005	0.000199681	0.0005	0	8.864e-05	0	0	0.0006	0.0023	0.0010	0.000401	62	154602	rs201339605	0.0003	0.0003	0.0003	0.0004	0.0026	0.0003	0.0003	0.0016	0.0013	2.992e-05	0.0006	7.662e-05	0	1.877e-05	0.0026	0.0003	0.0006	0.0015	0.0003	0.0003	0.0004	0.0002	0.0006	0.0002	0.0002	0.0004	0.0004	0	0	0.0001	0	0	0	0.0034	0.0006	0.0005	0.0004	0.055	0.38407	T	0.069	0.43913	T	0.967	0.56408	D	0.756	0.56253	P	0.007964	0.31093	N	0.146929	0.806409	0.34580	D	3.2	0.89116	M	-2.09	0.86077	D	-10.79	0.99198	D	0.607	0.62442	0.577	0.91600	D	0.736	0.90983	D	10	0.39042228	0.54851	T	0.049289	0.63745	D	0.555	0.81659	.	.	0.944523883228	0.94394	0.18814485795219263	0.18732	0.203604991525	0.22774	0.405933737755	0.25894	T	0.293799	0.66649	T	-0.15892	0.26926	T	-0.0466053	0.67254	D	0.216425599304568	0.21284	T	0.648535	0.25952	T	0.6130245	0.73390	0.6582248	0.79982	0.6130245	0.73391	0.6582248	0.79983	-7.453	0.57279	T	.	.	0.134	0.29172	B	.	.	3.895185	0.56705	23.8	0.97975398609407505	0.37283	0.95832	0.66344	D	AEFBI	0.846047	0.76294	D	0.506882642008772	0.67496	5.089388	0.441852167366404	0.64196	4.669193	0.936456131649171	0.27255	0.706298	0.61202	0	0.708844	0.79440	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	4.68	4.68	0.58319	5.136000	0.64623	5.233000	0.48037	0.756000	0.94297	0.506000	0.27002	0.998000	0.33993	0.998000	0.85391	1.0:0.0:0.0:0.0	13.379	0.60203	957	0.09725	.	.	.	.	.	.	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	0.002518	0.005051	0.002717	0.000000	0.000000	0.008621	0.000000	0.003788	0.1429	2857.25	35	chr17	69088219	.	A	C	2857.25	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.413;DP=416;ExcessHet=0.3476;FS=2.028;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=10.54;ReadPosRankSum=0.074;SOR=0.571	GT:AD:DP:GQ:PL	0/1:69,78:147:99:1648,0,1625	5	0	2	0
chr17	76387129	76387129	C	T	exonic	SPHK1	.	nonsynonymous SNV	SPHK1:NM_001142602:exon5:c.C698T:p.P233L,SPHK1:NM_001142601:exon6:c.C698T:p.P233L,SPHK1:NM_001355139:exon6:c.C698T:p.P233L,SPHK1:NM_021972:exon6:c.C740T:p.P247L,SPHK1:NM_182965:exon6:c.C956T:p.P319L	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.182	0.0280766780786	0.0002	.	5.871e-05	0	8.743e-05	0	0	7.641e-05	0	6.097e-05	6.47e-05	10	154602	rs375151940	6.708e-05	6.704e-05	5.585e-05	7.843e-05	0.0002	5.632e-05	5.175e-05	0.0001	8.648e-05	0	0.0001	0	2.519e-05	0	0.0002	6.295e-05	8.282e-05	0.0002	7.881e-05	7.874e-05	7.71e-05	8.059e-05	0.0006	4.494e-05	3.51e-05	0.0002	8.996e-05	0	0	0.0002	0	0	0	0	8.82e-05	0	0.0006	0.032	0.44694	D	0.039	0.53072	D	0.213	0.30041	B	0.036	0.22909	B	0.000591	0.43095	N	0.202341	0.999994	0.58761	D	2.335	0.66956	M	1.8	0.26301	T	-6.07	0.89871	D	0.238	0.28498	-1.0623	0.11190	T	0.080	0.31586	T	10	0.15943894	0.29957	T	0.028077	0.50806	D	0.182	0.45420	.	.	0.658464116293	0.65560	.	.	0.319406857869	0.34138	0.379330098629	0.22161	T	0.749714	0.93132	D	-0.365584	0.03824	T	-0.503233	0.22014	T	0.103798560798168	0.12770	T	0.771423	0.40183	T	0.5173746	0.68108	0.34780124	0.60429	0.5173746	0.68109	0.34780124	0.60429	-5.516	0.43246	T	.	.	0.112	0.22061	B	.;.;.;.;.	.;.;.;.;.	1.991848	0.25307	16.71	0.97795343335571072	0.36027	0.76348	0.37437	D	AEFDBCI	0.113059	0.22323	N	-0.225739402647682	0.32080	1.805454	-0.230378195690685	0.30453	1.714804	0.999999933325653	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.654045	0.52621	0	0.735409	0.98432	0	.	.	5.08	4.11	0.47350	1.096000	0.30587	.	.	0.599000	0.40250	0.168000	0.23907	0.998000	0.33993	0.007000	0.07825	0.0:0.757:0.0:0.243	8.045	0.29703	832	0.38914	.;.;.;.;.	.	.	.	.	.	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	1171.46	34	chr17	76387129	.	C	T	1171.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.64;DP=279;ExcessHet=0;FS=4.171;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.95;ReadPosRankSum=-0.304;SOR=0.804	GT:AD:DP:GQ:PL	0/1:43,41:84:99:1182,0,1135	6	0	1	0
chr17	78803829	78803829	T	C	exonic	USP36	.	nonsynonymous SNV	USP36:NM_001385177:exon15:c.A1871G:p.E624G,USP36:NM_001385178:exon15:c.A1871G:p.E624G,USP36:NM_001385180:exon15:c.A1709G:p.E570G,USP36:NM_001321291:exon16:c.A2366G:p.E789G,USP36:NM_001385169:exon16:c.A2366G:p.E789G,USP36:NM_001385170:exon16:c.A2366G:p.E789G,USP36:NM_001385171:exon16:c.A2366G:p.E789G,USP36:NM_001385173:exon16:c.A2366G:p.E789G,USP36:NM_001385174:exon16:c.A2366G:p.E789G,USP36:NM_001385175:exon16:c.A2366G:p.E789G,USP36:NM_001385176:exon16:c.A2366G:p.E789G,USP36:NM_001385179:exon16:c.A1736G:p.E579G,USP36:NM_001385172:exon17:c.A2366G:p.E789G	.	414	1101	6	1	0	8	0.00361991	.	.	.	2338210	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.087	0.00304485240764	7.7e-05	.	6.034e-05	0	0	0	0	0.0001	0	0	5.17e-05	8	154602	rs143211507	7.599e-05	7.593e-05	7.493e-05	7.707e-05	0.0016	6.428e-05	6.009e-05	0.0008	0.0006	0	2.236e-05	0	0	0	0.0016	8.094e-05	0.0002	0	0.0001	0.0001	0.0002	5.391e-05	0.0002	6.523e-05	5.332e-05	0.0001	0.0001	2.416e-05	0	0	0	0	0	0	0.0002	0	0	1.0	0.00964	T	0.735	0.05072	T	0.0	0.02946	B	0.0	0.01387	B	0.035626	0.24620	N	0.479641	1	0.19486	N	-1.995	0.00197	N	3.41	0.05574	T	1.9	0.00456	N	0.034	0.01135	-0.9470	0.41481	T	0.004	0.01159	T	10	0.02090925	0.00490	T	0.003045	0.06547	T	0.087	0.25287	.	.	0.117506650769	0.11410	0.2135863070528105	0.21274	0.0810390248046	0.09121	0.28819796443	0.08661	T	0.004243	0.03650	T	-0.520141	0.00439	T	-0.748254	0.03554	T	0.0230107751109894	0.01025	T	0.320168	0.06459	T	0.03492043	0.04013	0.041827437	0.04843	0.03492043	0.04013	0.041827437	0.04843	0.784	0.00162	T	.	.	0.050	0.00130	B	.;.	.;.	1.087607	0.14711	11.26	0.088743947588112285	0.00078	0.00355	0.01825	N	AEFDBI	0.014664	0.00243	N	-1.39579070475119	0.02677	0.1185641	-1.21269476537944	0.05705	0.2725941	0.999922370537959	0.46280	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	5.29	4.28	0.50183	1.525000	0.35560	3.891000	0.40294	-0.218000	0.08083	0.129000	0.23328	1.000000	0.68203	0.033000	0.13494	0.0:0.7438:0.1659:0.0903	7.548	0.26948	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	0	0	1	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	2176.44	33	chr17	78803829	.	T	C	2176.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.18;DP=308;ExcessHet=0;FS=1.506;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=19.09;ReadPosRankSum=1.01;SOR=0.912	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:56,58:114:99:0|1:78803816_A_G:2187,0,2139:78803816	6	0	1	0
chr17	80340302	80340302	G	A	exonic	RNF213	.	nonsynonymous SNV	RNF213:NM_001256071:exon26:c.G5935A:p.V1979M	.	.	.	.	.	.	.	.	.	.	.	3074860	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.179	0.0256133580771	.	0.000199681	5.974e-05	0.0003	8.832e-05	0	0	4.664e-05	0	0	5.17e-05	8	154602	rs554464121	2.942e-05	2.941e-05	2.859e-05	3.026e-05	0.0005	2.217e-05	1.97e-05	0.0001	8.675e-05	0.0002	0	0	0	0	0.0005	2.428e-05	4.968e-05	2.319e-05	8.533e-05	8.53e-05	8.993e-05	8.053e-05	0.0002	4.952e-05	3.959e-05	9.539e-05	6.944e-05	0.0002	0	0	0	0	0	0	7.351e-05	0	0	0.003	0.68238	D	0.004	0.74150	D	.	.	.	.	.	.	0.045168	0.23564	N	0.414460	1	0.08975	N	.	.	.	0.9	0.45248	T	-2.24	0.50175	N	0.261	0.29544	-0.9599	0.39199	T	0.152	0.48032	T	10	0.20691389	0.36969	T	0.025613	0.48570	D	0.179	0.44899	.	.	0.66956235034	0.66677	.	.	1.04685743693	0.75984	0.533517360687	0.43530	T	0.049932	0.28448	T	-0.361067	0.04070	T	-0.438351	0.28993	T	0.148890610769976	0.17014	T	0.90311	0.66064	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.194	0.41526	B	.;.	.;.	2.827702	0.37270	20.5	0.58204050646032668	0.05940	0.89565	0.50110	D	AEFDBCI	0.401891	0.47619	N	0.291810382501884	0.55733	3.737407	0.147444305400226	0.47007	2.937509	0.175974922859216	0.17804	0.67177	0.52595	0	0.702456	0.74545	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.14	4.18	0.48473	4.696000	0.61460	4.395000	0.43227	0.676000	0.76740	1.000000	0.71638	0.999000	0.35428	0.017000	0.10941	0.1487:0.0:0.8513:0.0	11.191	0.47914	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	0	0	1	0	.	.	.	.	.	.	.	.	0.07143	1449.83	36	chr17	80340302	.	G	A	1449.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.93;DP=294;ExcessHet=0;FS=3.505;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.61;ReadPosRankSum=0.49;SOR=1.052	GT:AD:DP:GQ:PL	0/1:57,58:115:99:1460,0,1433	6	0	1	0
chr17	81868769	81868769	C	T	exonic	ARHGDIA	.	nonsynonymous SNV	ARHGDIA:NM_001301242:exon7:c.G610A:p.V204M	Nephrotic syndrome, type 8, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0	0	0	0.0002	0.0074	0.0001	3.23e-05	5	154602	rs750195456	1.408e-05	1.316e-05	5.204e-06	2.322e-05	0.0003	8.33e-06	6.74e-06	0.0001	9.938e-05	0	0.0003	0	0	0	0	2.217e-06	2.376e-05	6.604e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999993	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078030735	0.12388	T	.	.	.	.	.	.	.	0.405070198662	0.40122	.	.	.	.	.	.	.	0.005557	0.05012	T	-0.221802	0.17748	T	-0.556379	0.16718	T	.	.	.	0.324768	0.06643	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.230	0.46261	B	.	.	-0.309035	0.02577	0.316	0.68647796875965517	0.08723	0.33495	0.24842	N	ALL	0.211137	0.33695	N	.	.	.	.	.	.	0.999999985590198	0.74766	0.839682	0.99964	0	0.672317	0.65289	0	0.736553	0.94036	0	0.735409	0.98432	0	.	.	2.31	-1.78	0.07527	-0.349000	0.07779	-3.246000	0.02938	-4.006000	0.00047	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1279:0.2398:0.4588:0.1736	2.175	0.03623	.	.	.	.	.	.	.	.	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	654.83	36	chr17	81868769	.	C	T	654.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.43;DP=227;ExcessHet=0;FS=2.327;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.1;ReadPosRankSum=-0.084;SOR=0.407	GT:AD:DP:GQ:PL	0/1:33,26:59:99:665,0,872	6	0	1	0
chr18	10705465	10705465	G	A	exonic	PIEZO2	.	nonsynonymous SNV	PIEZO2:NM_022068:exon37:c.C5531T:p.S1844L,PIEZO2:NM_001378183:exon41:c.C5870T:p.S1957L	Arthrogryposis, distal, type 3, Autosomal dominant;Arthrogryposis, distal, type 5, Autosomal dominant;Arthrogryposis, distal, with impaired proprioception and touch, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.397	0.0547090563143	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1260084326	5.054e-06	4.788e-06	8.553e-06	1.463e-06	6.488e-06	2.1e-06	1.35e-06	2.7e-06	1.74e-06	0	0	0	0	0	0	6.488e-06	0	0	1.314e-05	1.313e-05	2.569e-05	0	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	0.165	0.23271	T	0.009	0.66756	D	.	.	.	.	.	.	.	.	.	.	0.922216	0.36711	D	0.77	0.19370	N	-0.84	0.74265	T	-2.11	0.48020	N	0.561	0.58543	-0.4180	0.71456	T	0.332	0.69919	T	7	0.27597895	0.45158	T	0.054709	0.65957	D	0.397	0.71163	0.185	0.09388	0.502707129593	0.49909	0.4939751311091993	0.49318	0.514829843457	0.49406	0.383855581284	0.22802	T	0.052655	0.37962	T	0.165009	0.70663	D	0.106904	0.77368	D	0.199931487846276	0.20412	T	0.940906	0.78939	D	0.05764141	0.11498	0.086300954	0.19986	0.05764141	0.11498	0.086300954	0.19986	-4.297	0.28135	T	0.1920505688030756	0.25221	0.096	0.19032	B	.;.;.;.;.	.;.;.;.;.	3.874037	0.56268	23.7	0.8863080559391826	0.18129	0.92072	0.54882	D	AEFBCI	0.864161	0.78288	D	0.0733587489199731	0.45222	2.782443	0.108735459243814	0.44993	2.770632	0.999986030754284	0.51787	0.631515	0.41029	0	0.697927	0.68747	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.67	5.67	0.87673	7.219000	0.77491	8.711000	0.78136	-0.107000	0.15377	1.000000	0.71638	1.000000	0.68203	0.010000	0.09038	0.0:0.0:1.0:0.0	19.764	0.96328	832	0.38914	.;.;.;.;.	.	.	.	.	.	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	1576.44	35	chr18	10705465	.	G	A	1576.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.42;DP=358;ExcessHet=0;FS=3.664;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.55;ReadPosRankSum=0.45;SOR=0.801	GT:AD:DP:GQ:PL	0/1:97,68:165:99:1587,0,2254	6	0	1	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	0/1:150,19:169:99:156,0,3719	1	0	6	0
chr18	26052805	26052805	T	G	exonic	SS18	.	nonsynonymous SNV	SS18:NM_001007559:exon5:c.A426C:p.Q142H,SS18:NM_001308201:exon5:c.A357C:p.Q119H,SS18:NM_005637:exon5:c.A426C:p.Q142H	Sarcoma, synovial (1)	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.135	0.0211692380011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.53900	D	0.004	0.74150	D	0.94	0.52768	P	0.564	0.49695	P	0.000000	0.84330	D	0.000000	0.993843	0.54805	D	1.955	0.52871	M	1.35	0.34648	T	-1.72	0.41618	N	0.735	0.75101	-1.0778	0.07781	T	0.092	0.35174	T	10	0.25403965	0.42778	T	0.021169	0.43897	T	0.135	0.36572	0.251	0.18912	0.362933182269	0.35899	0.3424979934914235	0.34162	0.619389203254	0.56290	0.677848815918	0.63960	T	0.265629	0.63751	T	0.0405682	0.57121	T	-0.179503	0.56569	T	0.864418923854828	0.51459	D	0.926607	0.75038	D	0.20351705	0.42431	0.16310057	0.37852	0.20351705	0.42431	0.16310057	0.37851	-4.319	0.28442	T	.	.	0.152	0.41798	B	.;.;.;.;.	.;.;.;.;.	2.561469	0.33175	19.26	0.90938861408066418	0.20187	0.89698	0.50330	D	AEFDGBI	0.565007	0.57157	D	0.0646062913086806	0.44818	2.748906	0.0497766893088584	0.42061	2.537543	0.988441372597159	0.31518	0.719381	0.83141	0	0.723133	0.82719	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.77	0.836	0.18026	0.125000	0.15577	0.340000	0.17371	0.665000	0.62972	0.976000	0.34826	0.997000	0.33255	1.000000	0.97212	0.0:0.2832:0.0:0.7168	9.107	0.35865	956	0.09877	.;.;.;.;.	.	.	.	.	.	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	1608.53	33	chr18	26052805	.	T	G	1608.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.56;DP=292;ExcessHet=0;FS=0.741;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.99;ReadPosRankSum=-0.277;SOR=0.613	GT:AD:DP:GQ:PL	0/1:46,69:115:99:1619,0,1054	6	0	1	0
chr18	31403566	31403566	C	T	exonic	DSG4	.	nonsynonymous SNV	DSG4:NM_001134453:exon11:c.C1568T:p.P523L,DSG4:NM_177986:exon11:c.C1568T:p.P523L	Hypotrichosis 6, Autosomal recessive	2	1440	77	3	0	83	0.0280121	.	.	.	237228	not_provided|Hypotrichosis_6	MedGen:C3661900|MONDO:MONDO:0011932,MedGen:C1842839,OMIM:607903,Orphanet:55654	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.436	.	0.0073	0.00798722	0.0086	0.0009	0.0049	0.0001	0.0014	0.0090	0.0099	0.0219	0.0083893	1297	154602	rs34620697	0.0073	0.0073	0.0067	0.0079	0.0193	0.0072	0.0071	0.0185	0.0182	0.0008	0.0053	0.0099	5.039e-05	0.0020	0.0180	0.0070	0.0083	0.0193	0.0054	0.0054	0.0055	0.0053	0.0197	0.0051	0.0050	0.0165	0.0153	0.0011	0.0154	0.0056	0.0101	0.0002	0.0012	0.0068	0.0077	0.0057	0.0197	0.001	0.78490	D	0.003	0.76473	D	1.0	0.90584	D	0.998	0.92359	D	0.003957	0.34294	N	0.000000	1	0.81001	D	3.7	0.94612	H	-0.01	0.62762	T	-7.66	0.95511	D	0.672	0.67995	-0.0615	0.80961	T	0.425	0.76890	T	10	0.0106598735	0.00236	T	.	.	.	0.436	0.74093	.	.	0.927137678208	0.92639	0.652556277191424	0.65191	0.248225803681	0.27384	0.45504295826	0.32633	T	0.624655	0.88286	D	-0.2795	0.10720	T	-0.158002	0.58531	T	0.0894284915205194	0.11150	T	0.851115	0.53499	D	0.43418938	0.63025	0.5285101	0.72758	0.46111244	0.64740	0.5285101	0.72759	-7.308	0.56253	T	.	.	0.417	0.60533	A	.;.	.;.	4.483836	0.69979	25.5	0.99870903935111033	0.94815	0.88443	0.48373	D	AEFGBHCIJ	0.497987	0.53228	N	0.794065608974443	0.85734	8.665106	0.729373834982191	0.84610	8.339843	0.999999999997648	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	6.01	6.01	0.97420	4.117000	0.57623	5.930000	0.51304	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.287000	0.24188	0.0:1.0:0.0:0.0	20.125	0.97974	718	0.55760	.;.	.	.	.	.	.	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	0.014602	0.010101	0.009511	0.000000	0.000000	0.008621	0.018293	0.041667	0.07143	1745.49	33	chr18	31403566	.	C	T	1745.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.82;DP=333;ExcessHet=0;FS=1.29;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.26;ReadPosRankSum=-0.443;SOR=0.556	GT:AD:DP:GQ:PL	0/1:81,74:155:99:1756,0,1816	6	0	1	0
chr18	31466577	31466577	G	T	exonic	DSG3	.	nonsynonymous SNV	DSG3:NM_001944:exon11:c.G1459T:p.D487Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.288	0.0670760796422	.	.	.	.	.	.	.	.	.	.	.	.	.	rs771845317	6.841e-07	6.84e-07	1.361e-06	0	2.519e-05	0	0	.	.	0	0	0	2.519e-05	0	0	0	0	0	6.57e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.003	0.68238	D	0.006	0.70582	D	0.989	0.62824	D	0.854	0.60866	P	0.359135	0.04293	N	1.479250	1	0.08975	N	3.515	0.92918	H	-0.59	0.71543	T	-5.94	0.89093	D	0.374	0.41557	-0.3320	0.74075	T	0.567	0.84308	D	10	0.9023046	0.89593	D	0.067076	0.70060	D	0.288	0.60691	0.818	0.93195	0.775751026681	0.77369	0.7820997786912135	0.78160	0.217819487897	0.24309	0.275861978531	0.06922	T	0.816728	0.95476	D	-0.139861	0.29914	T	-0.269549	0.47864	T	0.494420496509199	0.32426	T	0.324967	0.06659	T	0.13669717	0.31678	0.20389459	0.44487	0.13669717	0.31678	0.20389459	0.44486	-7.169	0.55259	T	.	.	0.143	0.31583	B	.	.	1.507631	0.19370	14.23	0.95887907451324328	0.28095	0.22358	0.21719	N	AEFBCI	0.063215	0.12200	N	-0.620639080915892	0.18325	0.9504765	-0.905071840166771	0.11973	0.6132792	0.114002070812458	0.16722	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.97	-2.53	0.05959	0.556000	0.23144	-0.024000	0.12886	-3.964000	0.00049	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2501:0.1031:0.6469:0.0	10.293	0.42791	726	0.54788	Cadherin-like|Cadherin conserved site|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	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	2469.44	42	chr18	31466577	.	G	T	2469.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.69;DP=399;ExcessHet=0;FS=2.478;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.29;ReadPosRankSum=-0.01;SOR=0.915	GT:AD:DP:GQ:PL	0/1:103,98:201:99:2480,0,2239	6	0	1	0
chr18	31541297	31541297	G	A	exonic	DSG2	.	nonsynonymous SNV	DSG2:NM_001943:exon13:c.G1984A:p.A662T	Arrhythmogenic right ventricular dysplasia 10, Autosomal dominant;Cardiomyopathy, dilated, 1BB	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.426	0.0891150511824	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1186896680	1.368e-06	1.368e-06	2.723e-06	0	2.236e-05	2.3e-07	9e-08	.	.	0	2.236e-05	0	0	0	0	8.995e-07	0	0	6.575e-06	6.568e-06	1.285e-05	0	6.549e-05	0	0	.	.	0	0	6.549e-05	0	0	0	0	0	0	0	0.0	0.91255	D	0.021	0.58089	D	1.0	0.90584	D	0.999	0.92359	D	0.000006	0.62929	D	0.000000	0.999817	0.49394	D	3.05	0.86762	M	-0.92	0.75108	T	-3.52	0.68412	D	0.56	0.58458	0.372	0.88677	D	0.658	0.88122	D	10	0.69900656	0.72324	D	0.089115	0.75265	D	0.426	0.73372	0.21	0.12781	0.956247277456	0.95578	0.9288824395156199	0.92866	0.414509619234	0.42131	0.434575915337	0.29834	T	0.621993	0.88164	D	0.0720377	0.61095	D	-0.051434	0.66924	D	0.993339002132416	0.84094	D	0.858914	0.54988	D	0.6406292	0.74865	0.679	0.81137	0.6406292	0.74866	0.679	0.81138	-8.715	0.65844	D	0.8609242873125713	0.92441	0.562	0.67302	A	.	.	4.707566	0.75589	26.4	0.99913393119932348	0.98238	0.99258	0.93561	D	AEFBI	0.734853	0.68086	D	0.925276561188041	0.92941	11.723	0.887186071652214	0.94988	13.21417	0.999999990424555	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.564101	0.26826	0	.	.	5.86	5.86	0.93936	6.638000	0.74166	11.800000	0.96626	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:0.0:1.0:0.0	20.563	0.99337	702	0.57624	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.5	556.67	26	chr18	31541297	.	G	A	556.67	.	AC=4;AF=0.5;AN=8;BaseQRankSum=-0.963;DP=269;ExcessHet=4.1913;FS=371.42;MLEAC=5;MLEAF=0.625;MQ=60;MQRankSum=0;QD=2.61;ReadPosRankSum=1.51;SOR=8.977	GT:AD:DP:GQ:PL	0/1:31,27:58:99:147,0,334	0	0	4	3
chr18	31846751	31846751	T	C	exonic	TRAPPC8	.	nonsynonymous SNV	TRAPPC8:NM_014939:exon26:c.A3802G:p.I1268V	.	443	1069	9	1	0	11	0.00511866	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.00340190401819	0.0015	0.000798722	0.0019	9.612e-05	0.0005	0	0.0005	0.0028	0.0033	0.0018	0.0017917	277	154602	rs146392001	0.0021	0.0021	0.0021	0.0020	0.0038	0.0020	0.0020	0.0026	0.0022	0.0003	0.0015	0.0087	0	0.0005	0.0038	0.0021	0.0022	0.0015	0.0018	0.0018	0.0020	0.0017	0.0027	0.0017	0.0016	0.0024	0.0023	0.0004	0	0.0016	0.0081	0.0002	0.0006	0	0.0027	0.0028	0.0025	0.511	0.07473	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	0.015107	0.28339	N	0.414465	0.972522	0.25596	N	-0.69	0.01958	N	2.45	0.15028	T	-0.51	0.15986	N	0.229	0.27554	-0.9351	0.43379	T	0.012	0.04463	T	10	0.006679684	0.00151	T	0.003402	0.07633	T	0.021	0.04004	.	.	0.043077524339	0.03247	0.21161952791076083	0.21077	0.103064710941	0.11657	0.287468791008	0.08555	T	0.001708	0.09742	T	-0.662782	0.00060	T	-0.727868	0.04425	T	0.00194458371785978	0.00020	T	0.773923	0.40554	T	0.014049822	0.00079	0.02289608	0.00307	0.014049822	0.00079	0.02289608	0.00307	-2.233	0.04204	T	.	.	0.054	0.00321	B	.;.	.;.	1.112614	0.14977	11.49	0.77716899045425769	0.11992	0.63816	0.32207	D	AEFGBI	0.104378	0.20887	N	-1.04922484792238	0.07602	0.3537357	-0.835905628383524	0.13627	0.7079292	0.153119060367593	0.17473	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.34	-0.889	0.10044	0.058000	0.14178	-1.222000	0.05984	-0.123000	0.13640	0.925000	0.32113	0.000000	0.08366	0.991000	0.66497	0.0:0.6315:0.0:0.3685	10.286	0.42745	751	0.51694	.;.	.	.	.	.	.	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	1361.44	42	chr18	31846751	.	T	C	1361.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.8;DP=334;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.16;ReadPosRankSum=0.486;SOR=0.7	GT:AD:DP:GQ:PL	0/1:75,59:134:99:1372,0,1690	6	0	1	0
chr18	31857705	31857705	G	A	exonic	TRAPPC8	.	nonsynonymous SNV	TRAPPC8:NM_014939:exon20:c.C3023T:p.T1008I	.	434	1077	11	0	0	11	0.00508083	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.00516198644216	0.0015	0.000798722	0.0021	9.612e-05	0.0005	0	0.0005	0.0029	0.0044	0.0027	0.0019728	305	154602	rs150390631	0.0021	0.0021	0.0021	0.0021	0.0038	0.0021	0.0020	0.0026	0.0022	0.0002	0.0015	0.0087	0	0.0005	0.0038	0.0022	0.0022	0.0024	0.0018	0.0018	0.0019	0.0017	0.0027	0.0016	0.0016	0.0024	0.0023	0.0003	0	0.0016	0.0081	0.0002	0.0006	0	0.0027	0.0028	0.0025	0.391	0.10802	T	0.405	0.15010	T	0.0	0.02946	B	0.004	0.10090	B	0.426299	0.12806	N	0.762472	0.953107	0.26416	N	0.29	0.10111	N	3.1	0.08283	T	-0.88	0.23808	N	0.061	0.07535	-0.9722	0.36734	T	0.016	0.06664	T	10	0.0041679144	0.00082	T	0.005162	0.13125	T	0.045	0.12272	.	.	0.043077524339	0.03247	0.14189204318717594	0.14112	0.131346689685	0.14815	0.347044557333	0.17485	T	0.001807	0.06949	T	-0.678504	0.00049	T	-0.750451	0.03467	T	0.00261004876392487	0.00027	T	0.519848	0.16911	T	0.021335503	0.00731	0.037047848	0.03275	0.021335503	0.00731	0.037047848	0.03275	-2.638	0.06797	T	.	.	0.073	0.04558	B	.;.	.;.	1.054891	0.14362	10.94	0.98167930735627396	0.38831	0.52125	0.29057	D	AEFDGBIJ	0.263676	0.38118	N	-0.853126868401835	0.11973	0.5808733	-0.755356609438734	0.15591	0.8207461	0.999640218319836	0.41316	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.616919	0.45865	0	.	.	5.21	-1.92	0.07203	0.297000	0.18856	0.686000	0.20722	-0.116000	0.14526	0.917000	0.31872	0.287000	0.24143	0.995000	0.73285	0.2574:0.13:0.6126:0.0	10.660	0.44888	757	0.50970	.;.	.	.	.	.	.	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	0.000000	0.003788	0.07143	1185.45	34	chr18	31857705	.	G	A	1185.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.654;DP=293;ExcessHet=0;FS=3.454;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.4;ReadPosRankSum=0.637;SOR=1.051	GT:AD:DP:GQ:PL	0/1:64,50:114:99:1196,0,1657	6	0	1	0
chr18	46946248	46946248	C	T	exonic	KATNAL2	.	nonsynonymous SNV	KATNAL2:NM_001353899:exon2:c.C32T:p.P11L,KATNAL2:NM_001353900:exon2:c.C32T:p.P11L,KATNAL2:NM_001353902:exon2:c.C32T:p.P11L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.047e-06	3.42e-06	0	2.188e-06	1.206e-06	0	0	.	.	0	0	0	0	0	0	1.206e-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	31.15	2	chr18	46946248	.	C	T	31.15	.	AC=1;AF=0.167;AN=6;BaseQRankSum=0;DP=10;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.333;MQ=60;MQRankSum=0;QD=7.79;ReadPosRankSum=1.38;SOR=0.693	GT:AD:DP:GQ:PL	0/1:2,2:4:37:37,0,37	2	0	1	4
chr18	51177112	51177112	A	G	exonic	MEX3C	.	nonsynonymous SNV	MEX3C:NM_016626:exon2:c.T1219C:p.F407L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.487	0.0253137631567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.113e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.52492	D	0.075	0.47097	T	0.997	0.70673	D	0.97	0.72226	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.82	0.82106	M	1.12	0.38718	T	-5.52	0.85994	D	0.706	0.72477	-0.6365	0.63295	T	0.251	0.62073	T	10	0.7858712	0.78241	D	0.025314	0.48293	D	0.487	0.77528	0.449	0.50957	0.730059074749	0.72765	.	.	1.28565786633	0.82653	0.864578425884	0.91784	D	0.402891	0.75979	T	0.233233	0.77025	D	0.0972472	0.76725	D	0.982453107833862	0.74501	D	0.911209	0.68535	D	0.6268725	0.74131	0.5983521	0.76673	0.6268725	0.74132	0.5983521	0.76674	-9.398	0.70223	D	.	.	0.999	0.98504	P	.;.	.;.	5.110104	0.85422	28.6	0.99866937388056276	0.94457	0.99359	0.94992	D	AEFBI	0.900400	0.84589	D	0.849071139545032	0.89055	9.816957	0.851133728241547	0.93083	11.813	0.999999999990326	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.97	5.97	0.96935	9.325000	0.96006	11.284000	0.91844	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	15.443	0.74935	881	0.29269	.;.	.	.	.	.	.	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	799.05	77	chr18	51177112	.	A	G	799.05	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-3.131;DP=548;ExcessHet=1.1394;FS=101.464;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=1.93;ReadPosRankSum=1.44;SOR=8.222	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:168,27:195:99:0|1:51177112_A_G:188,0,6787:51177112	4	0	3	0
chr18	51177115	51177115	C	T	exonic	MEX3C	.	nonsynonymous SNV	MEX3C:NM_016626:exon2:c.G1216A:p.D406N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.315	0.0371233782211	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1170539047	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.003	0.79402	D	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.81	0.81869	M	0.8	0.48769	T	-4.82	0.80851	D	0.665	0.72299	-0.4713	0.69679	T	0.319	0.68874	T	10	0.70792806	0.72858	D	0.037123	0.57424	D	0.315	0.63694	0.411	0.44723	0.803544974683	0.80170	.	.	1.72979365526	0.90724	0.81810438633	0.84738	D	0.45612	0.79501	T	-0.0908589	0.37934	T	-0.368289	0.37088	T	0.994576918359117	0.85946	D	0.979702	0.93682	D	0.72907937	0.79671	0.6503769	0.79545	0.72907937	0.79673	0.6503769	0.79545	-7.331	0.56415	T	.	.	0.945	0.86363	P	.;.	.;.	5.416801	0.90641	31	0.99916025942671016	0.98379	0.99021	0.90073	D	AEFBI	0.899214	0.84335	D	0.898058628751112	0.91662	10.99954	0.896553768688559	0.95422	13.60534	0.999999999999997	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.97	5.97	0.96935	7.905000	0.86479	7.718000	0.67175	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	19.210	0.93737	881	0.29269	.;.	.	.	.	.	.	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	777.05	77	chr18	51177115	.	C	T	777.05	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-4.434;DP=555;ExcessHet=1.383;FS=99.841;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=1.85;ReadPosRankSum=1.46;SOR=8.222	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:173,27:200:99:0|1:51177112_A_G:173,0,6997:51177112	3	0	3	1
chr18	51177121	51177121	C	G	exonic	MEX3C	.	nonsynonymous SNV	MEX3C:NM_016626:exon2:c.G1210C:p.E404Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.169	0.0103414181764	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.048	0.48594	D	0.993	0.65571	D	0.813	0.58748	P	0.000001	0.62929	D	0.098325	0.999571	0.47641	D	1.975	0.53506	M	0.98	0.42122	T	-2.3	0.51157	N	0.291	0.32921	-0.9046	0.47493	T	0.177	0.52225	T	10	0.27463642	0.45018	T	0.010341	0.26763	T	0.169	0.43123	0.401	0.43081	0.529347144327	0.52582	.	.	1.3103030877	0.83193	0.667679488659	0.62507	T	0.13375	0.46460	T	-0.0795134	0.39793	T	-0.351992	0.38975	T	0.85820886835662	0.50888	D	0.961904	0.85651	D	0.2823534	0.51273	0.23955542	0.49307	0.2823534	0.51273	0.23955542	0.49306	-12.645	0.87848	D	.	.	0.460	0.62767	A	.;.	.;.	5.061369	0.84364	28.3	0.99623389986515531	0.75594	0.97755	0.76898	D	AEFBI	0.698287	0.65601	D	0.643224233656525	0.75929	6.394	0.693241619276502	0.81863	7.62779	0.999999997071113	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.97	5.97	0.96935	4.960000	0.63380	7.718000	0.67175	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	19.210	0.93737	881	0.29269	.;.	.	.	.	.	.	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	461.34	43	chr18	51177121	.	C	G	461.34	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-4.951;DP=518;ExcessHet=0.3476;FS=149.541;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=1.32;ReadPosRankSum=2.31;SOR=7.701	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:174,26:200:99:0|1:51177112_A_G:154,0,6970:51177112	5	0	2	0
chr18	65824683	65824683	C	G	exonic	CDH7	.	nonsynonymous SNV	CDH7:NM_001317214:exon6:c.C833G:p.A278G,CDH7:NM_001362438:exon6:c.C833G:p.A278G,CDH7:NM_004361:exon6:c.C833G:p.A278G,CDH7:NM_033646:exon6:c.C833G:p.A278G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	0.00490096248541	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	0.072800	0.21387	N	0.451193	0.982979	0.39957	D	-3.075	0.00011	N	1.84	0.24656	T	3.87	0.00076	N	0.227	0.25499	-0.9038	0.47583	T	0.008	0.02884	T	10	0.04493016	0.03505	T	0.004901	0.12318	T	0.155	0.40530	0.546	0.66015	0.15499578495	0.15088	0.21276109158363124	0.21192	0.352591177131	0.37089	0.615600824356	0.55106	T	0.044351	0.26789	T	-0.291422	0.09494	T	-0.656384	0.08512	T	0.0723997502850542	0.08984	T	0.824517	0.48627	T	0.09681208	0.22810	0.12931228	0.31094	0.09681208	0.22809	0.12931228	0.31094	3.359	0.00015	T	.	.	0.078	0.06663	B	.;.;.	.;.;.	2.090507	0.26594	17.17	0.15872056406126045	0.00404	0.74711	0.36555	D	AEFDGBI	0.136260	0.25686	N	-0.923050984542219	0.10304	0.4917672	-0.581236897984816	0.19982	1.074571	0.870688873629593	0.25410	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	4.65	3.76	0.42368	1.558000	0.35917	3.329000	0.37611	0.589000	0.31548	0.946000	0.32893	0.998000	0.33993	0.969000	0.54022	0.0:0.7002:0.2998:0.0	13.494	0.60866	994	0.00715	Cadherin-like;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	.	.	.	.	.	.	.	.	0.5	693.59	29	chr18	65824683	.	C	G	693.59	.	AC=5;AF=0.5;AN=10;BaseQRankSum=0.023;DP=379;ExcessHet=8.9625;FS=442.858;MLEAC=5;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.6;ReadPosRankSum=1.02;SOR=9.401	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:43,19:69:99:.:.:211,0,1063:.	0	0	5	2
chr18	75063827	75063827	G	A	exonic	ZNF407	.	nonsynonymous SNV	ZNF407:NM_001384475:exon9:c.G6106A:p.E2036K,ZNF407:NM_017757:exon9:c.G6106A:p.E2036K	.	.	.	.	.	.	.	.	.	.	.	2284287	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.091	0.0243284085761	8.1e-05	.	6.901e-05	0.0002	0.0002	0	0	6.292e-05	0	0	5.17e-05	8	154602	rs371814141	5.703e-05	5.678e-05	6.015e-05	5.387e-05	0.0002	4.697e-05	4.32e-05	0.0001	9.2e-05	8.965e-05	0.0002	3.832e-05	0	0	0.0002	5.31e-05	0.0001	0	0.0002	0.0002	0.0002	0.0001	0.0009	0.0001	8.733e-05	0.0005	0.0004	9.67e-05	0	0.0009	0	0.0002	0	0	4.413e-05	0.0010	0	0.093	0.31532	T	0.443	0.13215	T	0.804	0.45171	P	0.163	0.34892	B	.	.	.	.	1	0.08975	N	2.005	0.54552	M	2.84	0.10674	T	-0.32	0.12283	N	0.207	0.22998	-1.1430	0.01250	T	0.028	0.11926	T	9	0.09957054	0.18079	T	0.024328	0.47317	T	0.091	0.26358	.	.	0.0675242888579	0.06100	0.24659611012894564	0.24573	0.229324476195	0.25492	0.346648752689	0.17427	T	0.022013	0.17042	T	-0.44681	0.01179	T	-0.610288	0.11961	T	0.0342017310015366	0.02672	T	0.622038	0.23930	T	0.1285758	0.30056	0.114114106	0.27544	0.1285758	0.30056	0.114114106	0.27544	-5.524	0.42092	T	.	.	0.082	0.08899	B	.	.	1.759264	0.22376	15.60	0.98485271816132491	0.42025	0.24392	0.22379	N	AEFDBI	0.110870	0.21971	N	-0.470391307214664	0.23054	1.235369	-0.572875994726723	0.20202	1.087317	0.41888009546777	0.20275	0.638212	0.43195	0	0.670034	0.63936	0	0.602189	0.34648	0	0.491896	0.07777	0	.	.	4.45	4.45	0.53365	3.373000	0.52124	6.972000	0.57094	0.672000	0.70159	0.353000	0.25784	0.997000	0.33255	0.003000	0.05239	0.0:0.0:1.0:0.0	17.106	0.86541	994	0.00715	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	1143.27	29	chr18	75063827	.	G	A	1143.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.555;DP=256;ExcessHet=0;FS=1.78;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.45;ReadPosRankSum=0.653;SOR=0.478	GT:AD:DP:GQ:PL	0/1:39,46:85:99:1153,0,907	5	0	1	1
chr18	79373905	79373905	C	G	exonic	ATP9B	.	nonsynonymous SNV	ATP9B:NM_001306085:exon28:c.C3078G:p.I1026M,ATP9B:NM_198531:exon28:c.C3078G:p.I1026M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.0345994434534	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008	0.0038	0.0009	0.0008	0.0010	0.0008	0.0008	0.0010	0.0009	0.0006	2.243e-05	0.0002	0.0001	1.877e-05	0.0007	0.0010	0.0008	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.26409	T	0.131	0.34959	T	0.354	0.33710	B	0.045	0.30390	B	0.000007	0.62929	D	0.106321	1	0.81001	D	.	.	.	-0.78	0.73631	T	-1.25	0.31576	N	0.772	0.80473	-0.7945	0.55467	T	0.230	0.59608	T	10	0.6346408	0.68711	D	0.034599	0.55783	D	0.342	0.66392	0.54	0.65161	0.652458548239	0.64956	0.694288075113171	0.69369	0.260033580267	0.28572	0.683687150478	0.64798	T	0.10075	0.40685	T	-0.0241352	0.48263	T	-0.272445	0.47572	T	0.36296334862709	0.27525	T	0.933407	0.75038	D	0.09914479	0.23395	0.10145065	0.24287	0.09914479	0.23395	0.10145065	0.24286	-6.858	0.52989	T	.	.	0.133	0.28835	B	.;.	.;.	1.363101	0.17722	13.33	0.95841953356481135	0.27968	0.40437	0.26436	N	AEFBI	0.191278	0.31848	N	-0.675120176808742	0.16732	0.8550748	-0.728338547967329	0.16257	0.8591364	0.00264162814707333	0.09600	0.706298	0.61202	0	0.694456	0.67091	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	4.89	-2.28	0.06438	-0.715000	0.05099	-0.654000	0.08013	-0.182000	0.10109	0.002000	0.15269	0.008000	0.19753	0.773000	0.36634	0.0995:0.4512:0.0:0.4493	8.239	0.30810	.	.	P-type ATPase, C-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	.	.	.	.	.	.	.	.	0.375	380.07	29	chr18	79373905	.	C	G	380.07	.	AC=3;AF=0.375;AN=8;BaseQRankSum=0.803;DP=206;ExcessHet=2.4304;FS=107.109;MLEAC=4;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.39;ReadPosRankSum=1.63;SOR=6.868	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:37,9:46:15:0|1:79373905_C_G:15,0,702:79373905	1	0	3	3
chr19	549171	549171	C	T	exonic	GZMM	.	stopgain	GZMM:NM_001258351:exon4:c.C481T:p.Q161X,GZMM:NM_005317:exon4:c.C598T:p.Q200X	.	418	1086	17	1	0	19	0.00867184	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0041	0.0061901	0.0142	0.0014	0.0218	0	0.0080	0.0136	0.0177	0.0226	0.0050517	781	154602	rs200398398	0.0058	0.0058	0.0053	0.0063	0.0185	0.0057	0.0057	0.0177	0.0174	0.0009	0.0059	0.0022	2.625e-05	0.0019	0.0061	0.0055	0.0060	0.0185	0.0048	0.0048	0.0045	0.0051	0.0189	0.0045	0.0044	0.0157	0.0146	0.0012	0	0.0082	0.0023	0.0002	0.0011	0.0068	0.0063	0.0066	0.0189	.	.	.	.	.	.	.	.	.	.	.	.	0.767245	0.09575	U	0.816174	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.054	0.02559	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0271905	0.47824	T	0.201792	0.83225	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Tolerant	.;High	7.367831	0.96444	36	0.97203068963353823	0.32820	0.02489	0.06965	N	AEFDBIJ	0.036085	0.04752	N	-0.126880149528579	0.36223	2.091002	-0.514698853503994	0.21754	1.178308	2.0296530167206E-4	0.05948	0.569682	0.32691	0	0.657636	0.61667	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	2.87	0.623	0.16827	0.463000	0.21683	0.058000	0.14093	0.478000	0.22058	0.053000	0.21524	0.000000	0.08366	0.010000	0.09038	0.0:0.6961:0.0:0.3039	4.881	0.13039	994	0.00715	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;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	0.009804	0.022472	0.009589	0.009036	0.050000	0.000000	0.009434	0.011450	0.07143	552.63	39	chr19	549171	.	C	T	552.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.535;DP=244;ExcessHet=0;FS=0.987;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.78;ReadPosRankSum=-1.108;SOR=0.892	GT:AD:DP:GQ:PL	0/1:46,25:71:99:563,0,1221	6	0	1	0
chr19	1109708	1109708	T	C	exonic	SBNO2	.	nonsynonymous SNV	SBNO2:NM_001100122:exon24:c.A2927G:p.Q976R,SBNO2:NM_014963:exon27:c.A3098G:p.Q1033R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.00620634863352	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1227895757	4.13e-06	4.104e-06	2.736e-06	5.542e-06	0.0002	1.49e-06	9.8e-07	7.2e-07	2e-07	0	0	0	0	0	0.0002	2.711e-06	3.342e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.496	0.07846	T	0.554	0.09621	T	0.004	0.12183	B	0.008	0.15521	B	0.000003	0.62929	N	0.061296	0.875138	0.28143	N	0.895	0.22405	L	.	.	.	-1.37	0.33998	N	0.335	0.39659	-0.9614	0.38916	T	0.116	0.40964	T	9	0.1531614	0.28917	T	0.006206	0.16259	T	0.085	0.24743	0.45	0.51121	0.24896430686	0.24499	0.7757513593456974	0.77525	0.438269625736	0.43864	0.436184734106	0.30056	T	0.02647	0.19579	T	-0.253808	0.13636	T	-0.602354	0.12615	T	0.0269422084093094	0.01536	T	.	.	.	0.095980935	0.22599	0.067534104	0.13984	0.095980935	0.22599	0.067534104	0.13983	-11.634	0.83023	D	.	.	0.117	0.31931	B	.;.;.	.;.;.	2.624013	0.34107	19.53	0.86810828193496492	0.16788	0.64582	0.32454	D	AEFDBCI	0.147534	0.27123	N	-0.477489717927606	0.22820	1.221191	-0.39380483989258	0.25180	1.383248	0.999999240145624	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.606735	0.37207	0	0.711	0.71501	0	.	.	4.45	2.35	0.28166	2.194000	0.42301	4.951000	0.46281	-0.251000	0.07141	1.000000	0.71638	1.000000	0.68203	0.596000	0.31288	0.0:0.1896:0.0:0.8104	6.877	0.23335	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	508.45	40	chr19	1109708	.	T	C	508.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.674;DP=230;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.97;ReadPosRankSum=2.03;SOR=0.627	GT:AD:DP:GQ:PL	0/1:26,25:51:99:519,0,643	6	0	1	0
chr19	2121043	2121043	C	T	exonic	AP3D1	.	nonsynonymous SNV	AP3D1:NM_001261826:exon14:c.G1300A:p.G434S,AP3D1:NM_001374799:exon14:c.G1300A:p.G434S,AP3D1:NM_003938:exon14:c.G1300A:p.G434S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.404	0.0856934389871	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1283931758	1.232e-05	1.3e-05	1.499e-05	9.633e-06	1.619e-05	7.7e-06	6.36e-06	1.012e-05	8.35e-06	0	0	0	0	0	0	1.619e-05	0	0	1.314e-05	1.313e-05	2.569e-05	0	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	0.002	0.72154	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	2.225	0.63025	M	2.73	0.11839	T	-5.8	0.88148	D	0.868	0.93018	-1.0355	0.18700	T	0.101	0.37341	T	10	0.84411955	0.83573	D	0.085693	0.74584	D	0.404	0.71714	.	.	0.607893666431	0.60474	0.7722418800678956	0.77174	1.93554706698	0.93189	0.834696650505	0.87283	D	0.45596	0.79491	T	0.0376875	0.56740	T	-0.183641	0.56183	T	0.992772042751312	0.83346	D	0.967803	0.88985	D	0.90170544	0.91536	0.83438236	0.90471	0.90170544	0.91538	0.83438236	0.90471	-12.466	0.87046	D	.	.	0.898	0.82647	P	.;.;.;.;.	.;.;.;.;.	4.390554	0.67755	25.1	0.99859914987012044	0.93820	0.98754	0.86424	D	AEFGBHI	0.935233	0.92979	D	0.669636610185504	0.77645	6.71464	0.604542672806776	0.75269	6.280827	0.999999642854295	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.67	4.67	0.58089	7.728000	0.83805	5.901000	0.50888	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.142000	0.20019	0.0:1.0:0.0:0.0	16.537	0.84223	946	0.12043	Clathrin/coatomer adaptor, adaptin-like, N-terminal;.;.;Clathrin/coatomer adaptor, adaptin-like, N-terminal;Clathrin/coatomer adaptor, adaptin-like, 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	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	2576.44	34	chr19	2121043	.	C	T	2576.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.47;DP=409;ExcessHet=0;FS=1.033;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.61;ReadPosRankSum=0.272;SOR=0.62	GT:AD:DP:GQ:PL	0/1:121,101:222:99:2587,0,2935	6	0	1	0
chr19	2234005	2234005	G	A	exonic	PLEKHJ1	.	nonsynonymous SNV	PLEKHJ1:NM_001300836:exon5:c.C377T:p.T126M,PLEKHJ1:NM_018049:exon5:c.C377T:p.T126M	.	419	1094	9	0	0	9	0.0040965	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.358	0.036066582249	0.0004	.	0.0005	0	0.0005	0.0001	0	0.0007	0.0011	0.0006	0.0004592	71	154602	rs146362675	0.0005	0.0005	0.0005	0.0005	0.0019	0.0005	0.0005	0.0011	0.0008	2.987e-05	0.0005	0.0082	2.519e-05	0	0.0019	0.0003	0.0010	0.0005	0.0004	0.0004	0.0004	0.0004	0.0004	0.0003	0.0003	0.0003	0.0003	7.222e-05	0	0.0002	0.0075	0	0	0	0.0004	0.0009	0.0004	0.001	0.78490	D	0.003	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000061	0.52346	D	0.123637	0.999784	0.81001	D	1.665	0.42610	L	.	.	.	-3.84	0.72240	D	0.45	0.68777	-0.5748	0.65823	T	0.256	0.62665	T	9	0.011515319	0.00251	T	0.036067	0.56753	D	0.358	0.67872	.	.	0.461759001683	0.45799	0.5013882579842461	0.50060	0.471409030193	0.46407	0.603456139565	0.53392	T	0.207166	0.57180	T	-0.134743	0.30732	T	-0.095066	0.63777	T	0.144451096653938	0.16653	T	0.743726	0.74231	T	0.42522934	0.62438	0.4331254	0.66875	0.42522934	0.62438	0.4331254	0.66875	-10.806	0.78583	D	.	.	0.613	0.81715	P	.;.;.;.;.	.;.;.;.;.	5.497494	0.91549	32	0.99892139906335475	0.96589	0.96181	0.67906	D	AEFGBCI	0.877340	0.80192	D	0.463901517489211	0.64996	4.767244	0.403228853956552	0.61767	4.381385	0.999999995531651	0.74766	0.722319	0.85440	0	0.685571	0.66316	0	0.643519	0.47002	0	0.735409	0.98432	0	.	.	4.05	2.94	0.33188	8.480000	0.90276	11.460000	0.92824	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.205000	0.22041	0.0:0.1669:0.8331:0.0	12.656	0.56149	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	0.001007	0.000000	0.000000	0.005848	0.000000	0.000000	0.000000	0.000000	0.07143	1883.44	33	chr19	2234005	.	G	A	1883.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2;DP=337;ExcessHet=0;FS=4.722;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.23;ReadPosRankSum=0.17;SOR=1.004	GT:AD:DP:GQ:PL	0/1:79,75:154:99:1894,0,1867	6	0	1	0
chr19	3938631	3938631	G	A	exonic	NMRK2	.	nonsynonymous SNV	NMRK2:NM_001375467:exon4:c.G195A:p.M65I,NMRK2:NM_001375468:exon4:c.G210A:p.M70I,NMRK2:NM_001375469:exon4:c.G195A:p.M65I,NMRK2:NM_001289117:exon5:c.G210A:p.M70I,NMRK2:NM_170678:exon5:c.G195A:p.M65I	.	.	.	.	.	.	.	.	.	.	.	3566306	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.357	0.0160768536686	.	.	7.842e-05	0	0	0	0	0	0	0.0006	6.47e-05	10	154602	rs750398158	2.553e-05	2.668e-05	1.508e-05	3.612e-05	0.0004	1.884e-05	1.644e-05	0.0003	0.0002	0	0	0	0	0	0.0002	2.716e-06	3.346e-05	0.0004	6.574e-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	0.006	0.61437	D	0.009	0.69154	D	0.997	0.70673	D	0.997	0.86255	D	0.000000	0.84330	U	0.000000	0.999715	0.48481	D	3.53	0.93071	H	1.03	0.40469	T	-3.47	0.67824	D	0.828	0.82358	-0.6574	0.62390	T	0.224	0.58805	T	10	0.7615986	0.76387	D	0.016077	0.37157	T	0.357	0.67782	0.734	0.86719	0.59817006922	0.59497	0.8487138666302303	0.84832	0.399077873608	0.40946	0.72411853075	0.70647	T	0.263173	0.63483	T	-0.184803	0.23024	T	-0.190854	0.55511	T	0.873034775257111	0.52290	D	0.927307	0.74555	D	0.5559309	0.70285	0.387787	0.63638	0.5559309	0.70286	0.387787	0.63638	-12.578	0.90811	D	.	.	0.971	0.89696	P	.;.;.;.	.;.;.;.	4.746152	0.76591	26.5	0.9970055726906859	0.80591	0.90578	0.51870	D	AEFDBI	0.809646	0.73310	D	0.566356082895439	0.71084	5.597414	0.470022366040075	0.66011	4.897059	0.984453001188774	0.30721	0.634777	0.41761	0	0.78372	0.99691	0	0.643519	0.47002	0	0.613276	0.41899	0	.	.	3.5	3.5	0.39181	8.496000	0.90320	10.435000	0.83342	0.614000	0.49286	1.000000	0.71638	1.000000	0.68203	0.840000	0.39645	0.0:0.0:1.0:0.0	10.370	0.43229	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	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	1627.83	35	chr19	3938631	.	G	A	1627.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-3.579;DP=308;ExcessHet=0;FS=0.701;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.68;ReadPosRankSum=0.207;SOR=0.569	GT:AD:DP:GQ:PL	0/1:51,68:119:99:1638,0,1368	6	0	1	0
chr19	3979340	3979340	T	C	exonic	EEF2	.	nonsynonymous SNV	EEF2:NM_001961:exon11:c.A1702G:p.I568V	.	.	.	.	.	.	.	.	.	.	.	797854	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.080	0.00665557996524	.	.	2.481e-05	0	0	0	0	4.52e-05	0	0	1.94e-05	3	154602	rs773849734	7.594e-05	7.661e-05	7.897e-05	7.289e-05	0.0002	6.424e-05	6.005e-05	7.861e-05	7.345e-05	0	6.71e-05	0	0	0	0.0002	9.354e-05	4.968e-05	0	2.629e-05	2.627e-05	2.57e-05	2.691e-05	0.0002	8.14e-06	5.14e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0.0002	0.427	0.09629	T	0.65	0.06738	T	0.001	0.07471	B	0.002	0.06944	B	0.000000	0.84330	D	0.050269	1	0.81001	D	0.68	0.16426	N	-0.44	0.69777	T	0.23	0.04613	N	0.224	0.25130	-0.9551	0.40078	T	0.146	0.47056	T	10	0.14545843	0.27591	T	0.006656	0.17557	T	0.080	0.23350	.	.	0.463230170304	0.45947	0.7963157139649278	0.79584	.	.	0.812792539597	0.83921	D	0.111383	0.42683	T	-0.178731	0.23925	T	-0.318665	0.42720	T	0.0774353295564651	0.09655	T	0.966103	0.87544	D	0.12625946	0.29577	0.10391204	0.24943	0.12625946	0.29576	0.10391204	0.24943	-6.915	0.53410	T	.	.	0.122	0.25396	B	.	.	3.191405	0.43364	21.7	0.98121981521557822	0.38440	0.97131	0.72871	D	AEFDGBHCI	0.799001	0.72539	D	-0.18559716330534	0.33733	1.917222	0.052393314903879	0.42188	2.547413	0.999999998629879	0.74766	0.675202	0.55065	0	0.67197	0.64623	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.45	5.45	0.79688	5.060000	0.64142	6.201000	0.54892	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.0:0.0:1.0	14.671	0.68553	804	0.43891	.	.	.	.	.	.	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	750.44	33	chr19	3979340	.	T	C	750.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.42;DP=241;ExcessHet=0;FS=2.296;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.94;ReadPosRankSum=0.778;SOR=1.141	GT:AD:DP:GQ:PL	0/1:28,30:58:99:761,0,649	6	0	1	0
chr19	4501985	4501985	C	T	exonic	HDGFL2	.	nonsynonymous SNV	HDGFL2:NM_001001520:exon16:c.C1991T:p.S664L,HDGFL2:NM_001348169:exon16:c.C2063T:p.S688L,HDGFL2:NM_032631:exon16:c.C1988T:p.S663L	.	339	1181	2	0	0	2	0.000846024	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.0444042716183	0.0002	.	7.409e-05	0	0	0	0	0.0002	0	0	3.88e-05	6	154602	rs117648883	0.0004	0.0003	0.0003	0.0004	0.0004	0.0003	0.0003	0.0004	0.0004	0	3.787e-05	0	2.818e-05	0.0001	0.0004	0.0004	0.0003	1.338e-05	0.0002	0.0002	0.0002	9.4e-05	0.0003	0.0001	9.696e-05	0.0002	0.0002	7.217e-05	0	6.534e-05	0	0	9.414e-05	0	0.0003	0	0	.	.	.	0.009	0.66756	D	.	.	.	.	.	.	0.316222	0.14348	N	0.574339	0.607134	0.32589	D	1.1	0.28011	L	.	.	.	.	.	.	0.602	0.62018	-0.6124	0.64304	T	0.178	0.52365	T	10	0.2332136	0.40334	T	0.044404	0.61472	D	.	.	.	.	0.184605227958	0.18053	0.06688448220070385	0.06626	.	.	0.537846446037	0.44141	T	0.019867	0.15749	T	-0.240659	0.15265	T	-0.265393	0.48285	T	0.399073600769043	0.28907	T	0.741226	0.36032	T	0.04210746	0.06324	0.0705318	0.14995	0.04210746	0.06324	0.0705318	0.14995	-4.584	0.31970	T	.	.	0.087	0.53119	B	.;.;.	.;.;.	3.420744	0.47492	22.5	0.99692808013625689	0.80044	0.95590	0.65330	D	AEFDBI	0.642260	0.61930	D	0.289987897100242	0.55640	3.728044	0.257577663273388	0.53080	3.478968	0.017109784361779	0.12912	0.706548	0.73137	0	0.643519	0.57511	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.27	4.27	0.50009	4.936000	0.63206	3.945000	0.40631	0.596000	0.33519	1.000000	0.71638	0.999000	0.35428	0.288000	0.24212	0.0:1.0:0.0:0.0	12.207	0.53667	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	498.53	39	chr19	4501985	.	C	T	498.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.134;DP=237;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.39;ReadPosRankSum=0.165;SOR=0.56	GT:AD:DP:GQ:PL	0/1:25,23:48:99:509,0,620	6	0	1	0
chr19	7870401	7870401	G	A	exonic	PRR36	.	nonsynonymous SNV	PRR36:NM_001190467:exon5:c.C2843T:p.A948V	.	.	.	.	.	.	.	.	.	.	.	3379896	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.092	0.0429493249104	.	.	.	.	.	.	.	.	.	.	0.0002305	6	26028	.	2.322e-06	1.047e-05	0	4.753e-06	2.858e-06	0	0	.	.	0	0	0	0	0	0	2.858e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.813	0.03910	T	.	.	.	.	.	.	.	.	.	.	0.999854	0.23480	N	.	.	.	.	.	.	.	.	.	0.088	0.06587	-1.0198	0.23780	T	0.079	0.31435	T	8	0.07262945	0.10866	T	0.042949	0.60729	D	.	.	0.333	0.32005	0.0138822411134	0.00435	0.14309099076065493	0.14232	.	.	0.540233671665	0.44479	T	0.011512	0.10265	T	-0.209099	0.19506	T	-0.538132	0.18480	T	0.0778022035956383	0.09703	T	0.364364	0.08448	T	0.0237056	0.01133	0.03099248	0.01627	0.0237056	0.01133	0.03099248	0.01626	-4.885	0.35566	T	.	.	0.146	0.32299	B	.	.	0.379744	0.07515	4.163	0.95213987937006728	0.26425	0.09764	0.15446	N	ALL	0.110833	0.21964	N	-1.01398355816632	0.08313	0.3893434	-1.09788812534606	0.07741	0.3777807	0.997430750526847	0.35614	0.675385	0.55134	0	0.48864	0.07623	0	0.693117	0.63056	0	0.562822	0.20929	0	.	.	3.09	0.561	0.16471	-0.317000	0.08101	-7.194000	0.01210	-1.734000	0.00710	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.135:0.0:0.6484:0.2166	4.525	0.11383	923	0.18507	.	.	.	.	.	.	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	30.27	23	chr19	7870401	.	G	A	30.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.223;DP=170;ExcessHet=0;FS=17.975;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=1.12;ReadPosRankSum=-0.187;SOR=3.593	GT:AD:DP:GQ:PL	0/1:22,5:27:40:40,0,538	5	0	1	1
chr19	7871678	7871678	G	C	exonic	PRR36	.	nonsynonymous SNV	PRR36:NM_001190467:exon5:c.C1566G:p.D522E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.00631720991641	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0061	0.0002	0.0002	0.0004	0.0002	0.0002	0.0002	0.0002	0.0003	0	8.002e-05	2.812e-05	0	0.0004	0.0003	0.0003	6.372e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.196	0.27943	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.125	0.11769	-0.9982	0.30423	T	0.035	0.15291	T	6	0.06605524	0.09003	T	0.006317	0.16610	T	.	.	.	.	0.0401082797425	0.02173	0.04024571050867364	0.03970	.	.	0.37946036458	0.22180	T	0.013956	0.11972	T	-0.255113	0.13478	T	-0.604228	0.12458	T	0.0270435322631717	0.01550	T	0.30037	0.05618	T	0.023964053	0.01182	0.025669742	0.00620	0.023964053	0.01182	0.025669742	0.00619	-5.088	0.37780	T	.	.	0.367	0.57658	A	.	.	1.113604	0.14988	11.50	0.53643305433940836	0.04980	0.10200	0.15772	N	ALL	.	.	.	-0.794969245513708	0.13441	0.6621338	-0.886495899590302	0.12413	0.638379	0.999999999661444	0.74766	0.730579	0.87903	0	0.607795	0.50457	0	0.749866	0.98131	0	0.603991	0.37454	0	.	.	4.05	0.534	0.16320	0.450000	0.21475	0.712000	0.20944	0.606000	0.46413	0.025000	0.20085	0.000000	0.08366	0.014000	0.10232	0.353:0.0:0.647:0.0	5.982	0.18645	917	0.20147	.	.	.	.	.	.	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	307.26	36	chr19	7871678	.	G	C	307.26	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-3.376;DP=418;ExcessHet=1.1394;FS=221.189;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=1.23;ReadPosRankSum=0.44;SOR=8.318	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:65,21:86:3:.:.:3,0,1155:.	4	0	3	0
chr19	8302540	8302540	G	A	exonic	CD320	.	nonsynonymous SNV	CD320:NM_001165895:exon4:c.C646T:p.R216C,CD320:NM_016579:exon5:c.C772T:p.R258C	Methylmalonic aciduria, transient, due to transcobalamin receptor defect	1	1483	35	3	0	41	0.0136349	.	.	.	377924	not_specified|not_provided|Methylmalonic_acidemia_due_to_transcobalamin_receptor_defect	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0013341,MedGen:C4749905,OMIM:613646,Orphanet:280183	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.057	.	0.0003	0.038139	0.0214	0.0004	0.0010	0.0012	0.0002	0.0002	0.0200	0.1531	0.0185703	2871	154602	rs146190802	0.0095	0.0095	0.0053	0.0138	0.1518	0.0094	0.0093	0.1496	0.1487	0.0003	0.0002	0	0.0007	0	0.0052	0.0001	0.0095	0.1518	0.0056	0.0056	0.0029	0.0085	0.1726	0.0053	0.0052	0.1628	0.1589	0.0002	0	0.0001	0	0.0014	0	0	0.0001	0.0014	0.1726	0.17	0.22833	T	0.222	0.26386	T	0.078	0.24389	B	0.006	0.12133	B	0.728254	0.06354	N	1.162570	1	0.08975	N	1.3	0.32576	L	-4.15	0.96798	D	-1.39	0.34397	N	0.131	0.12627	-0.0917	0.80289	T	0.702	0.89742	D	10	0.0018918812	0.00026	T	.	.	.	0.171	0.43483	.	.	.	.	0.3110424995330931	0.31017	0.157689357993	0.17809	0.29886674881	0.10233	T	0.066763	0.33029	T	-0.402434	0.02232	T	-0.221025	0.52639	T	0.0059618278642031	0.00066	T	0.743426	0.36288	T	0.045751784	0.07541	0.029124541	0.01216	0.045751784	0.07541	0.029124541	0.01216	-6.356	0.49165	T	.	.	0.125	0.50306	B	.;.	.;.	1.040065	0.14208	10.78	0.94690428476183652	0.25333	0.02128	0.06281	N	ALL	0.064749	0.12591	N	-1.02829929009047	0.08019	0.3745948	-1.10097199002992	0.07682	0.3746335	0.100542589210616	0.16356	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	3.76	-1.38	0.08554	-0.290000	0.08390	.	.	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.031000	0.13245	0.5174:0.0:0.4826:0.0	6.927	0.23599	946	0.12043	.;.	.	.	.	.	.	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	0.012097	0.000000	0.000000	0.005848	0.000000	0.000000	0.003049	0.060606	0.08333	810.27	36	chr19	8302540	.	G	A	810.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.271;DP=232;ExcessHet=0;FS=2.03;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.09;ReadPosRankSum=0.27;SOR=1.011	GT:AD:DP:GQ:PL	0/1:33,34:67:99:820,0,749	5	0	1	1
chr19	8698476	8698476	C	A	exonic	ACTL9	.	nonsynonymous SNV	ACTL9:NM_178525:exon1:c.G226T:p.A76S	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.266	0.0627116840145	.	.	0.0004	0	0	0	0.0008	0.0006	0	0	0.0002846	44	154602	rs200080008	0.0001	0.0001	0.0001	0.0001	0.0002	0.0001	9.782e-05	9.698e-05	9.083e-05	0	0	0	0	0.0004	0.0002	0.0001	0.0003	1.299e-05	0.0001	0.0001	0.0001	0.0001	0.0002	7.089e-05	5.746e-05	9.047e-05	7.012e-05	2.412e-05	0	0	0	0	0.0005	0	0.0002	0	0	0.371	0.11514	T	0.3	0.20357	T	.	.	.	.	.	.	0.722485	0.09923	U	0.831042	0.976882	0.25347	N	.	.	.	-3.35	0.94022	D	0.34	0.03824	N	0.043	0.01577	-0.3643	0.73135	T	0.514	0.81792	D	10	0.095390975	0.17033	T	0.062712	0.68739	D	0.266	0.57999	.	.	0.760343589015	0.75816	0.3871646880490253	0.38631	0.682235262641	0.60098	0.431065380573	0.29354	T	.	.	.	-0.320833	0.06830	T	-0.378621	0.35885	T	0.0261561882068626	0.01427	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.16929	B	.;.	.;.	1.509090	0.19389	14.24	0.93975250381697761	0.24053	0.63149	0.32000	D	AEFDBCI	0.078481	0.15835	N	-0.481251064931417	0.22696	1.213693	-0.341976820147898	0.26758	1.480076	0.995976276748561	0.34444	0.525926	0.21836	0	0.573888	0.26702	0	0.596394	0.31383	0	0.584449	0.35598	0	.	.	3.86	1.51	0.22094	0.193000	0.16921	.	.	0.599000	0.40250	0.920000	0.31959	0.999000	0.35428	0.977000	0.56843	0.1629:0.5763:0.1597:0.1012	3.748	0.08080	.	.	.;.	.	.	.	.	.	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	1233.49	37	chr19	8698476	.	C	A	1233.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.123;DP=293;ExcessHet=0;FS=2.466;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.21;ReadPosRankSum=-0.948;SOR=0.528	GT:AD:DP:GQ:PL	0/1:57,53:110:99:1244,0,1378	6	0	1	0
chr19	8899972	8899972	T	C	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon38:c.A39013G:p.T13005A	.	419	1095	8	0	0	8	0.00363967	0	0.03	.	3210996	MUC16-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.024	0.00749902169758	.	.	1.661e-05	0	0.0002	0	0	0	0	0	1.29e-05	2	154602	rs756739393	1.369e-06	1.368e-06	1.362e-06	1.376e-06	4.472e-05	2.3e-07	9e-08	7.41e-06	2.77e-06	0	4.472e-05	0	0	0	0	0	0	0	2.836e-05	0.0017	0	5.868e-05	2.66e-05	9.63e-06	5.47e-06	.	.	2.66e-05	0	0	0	0	0.0003	0	0	0	0	0.845	0.02774	T	0.136	0.34009	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	4.67	0.01735	T	1.1	0.01229	N	0.045	0.01740	-0.9255	0.44786	T	0.001	0.00467	T	7	0.021653622	0.00522	T	0.007499	0.19899	T	0.024	0.04979	0.153	0.05648	0.0138822411134	0.00435	0.07225205961657089	0.07162	.	.	0.242049396038	0.02977	T	.	.	.	-0.549186	0.00295	T	-0.829673	0.01268	T	0.0531765688373252	0.06049	T	0.169583	0.01587	T	.	.	.	.	.	.	.	.	-6.763	0.52283	T	.	.	0.059	0.00834	B	.	.	0.265119	0.06434	2.903	0.15376159983054832	0.00374	0.00009	0.00143	N	AEFBI	0.015378	0.00290	N	-2.18627876915683	0.00082	0.003520834	-2.16957185045865	0.00131	0.005755971	1.89267803303865E-5	0.02871	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	-0.073000	0.11428	.	.	-2.696000	0.00211	0.011000	0.18532	0.000000	0.08366	0.000000	0.00833	0.2938:0.4676:0.0:0.2386	2.013	0.03280	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	.	.	.	.	.	.	.	.	0.25	756.06	34	chr19	8899972	.	T	C	756.06	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-1.381;DP=962;ExcessHet=1.1394;FS=0;MLEAC=3;MLEAF=0.25;MQ=59;MQRankSum=-14.4;QD=1.13;ReadPosRankSum=2.57;SOR=0.722	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:233,29:262:99:0|1:8899972_T_C:516,0,9645:8899972	3	0	3	1
chr19	8899974	8899974	G	A	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon38:c.C39011T:p.T13004I	.	419	1095	8	0	0	8	0.00363967	0.0414	0.372	.	3214956	MUC16-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.045	0.00118460416831	.	.	2.492e-05	0	8.709e-05	0	0	3.003e-05	0	0	1.94e-05	3	154602	rs778952678	8.896e-06	8.893e-06	9.532e-06	8.253e-06	0.0002	4.96e-06	3.83e-06	4.55e-06	3.32e-06	0	0	0	0	0	0.0002	8.996e-06	1.657e-05	1.16e-05	2.122e-05	0.0017	0	4.395e-05	2.653e-05	5.64e-06	2.57e-06	.	.	2.653e-05	0	0	0	0	0.0002	0	0	0	0	0.011	0.55530	D	0.061	0.45530	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.43	0.02158	T	-2.06	0.47175	N	0.174	0.18649	-1.0313	0.20034	T	0.017	0.07187	T	8	0.12934974	0.24610	T	0.001185	0.01509	T	0.045	0.12272	.	.	0.128392430309	0.12331	0.11902561227878314	0.11829	.	.	0.318150579929	0.13140	T	.	.	.	-0.323778	0.06593	T	-0.57241	0.15230	T	0.219254165887833	0.21427	T	0.221278	0.02853	T	.	.	.	.	.	.	.	.	-7.441	0.57194	T	.	.	0.144	0.31608	B	.	.	1.710829	0.21783	15.35	0.21896655339985072	0.00856	0.01505	0.04982	N	AEFBI	0.034770	0.04364	N	-0.324931602343095	0.28204	1.553715	-0.621172338705613	0.18950	1.014588	1.81590448166244E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.16	1.16	0.19936	0.426000	0.21081	.	.	0.526000	0.24426	0.004000	0.16614	0.000000	0.08366	0.001000	0.02609	0.0:0.0:1.0:0.0	5.678	0.17030	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	.	.	.	.	.	.	.	.	0.25	735.06	34	chr19	8899974	.	G	A	735.06	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-1.011;DP=969;ExcessHet=1.1394;FS=0;MLEAC=3;MLEAF=0.25;MQ=59.01;MQRankSum=-14.4;QD=1.08;ReadPosRankSum=2.78;SOR=0.722	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:237,29:266:99:0|1:8899972_T_C:504,0,9813:8899972	3	0	3	1
chr19	8899979	8899979	G	T	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon38:c.C39006A:p.S13002R	.	420	1090	12	0	0	12	0.00547445	.	.	.	3192352	MUC16-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.047	0.00102388544923	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1337261124	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.848e-05	0.0019	0	5.902e-05	2.675e-05	9.65e-06	5.49e-06	.	.	2.675e-05	0	0	0	0	0.0003	0	0	0	0	0.005	0.63226	D	0.061	0.45530	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.6	0.01868	T	-1.27	0.31981	N	0.225	0.25253	-1.0136	0.25784	T	0.015	0.06282	T	8	0.15770155	0.29672	T	0.001024	0.01120	T	0.047	0.12962	0.143	0.04650	0.0920862733494	0.08535	0.15085560951934324	0.15007	.	.	0.265822708607	0.05603	T	.	.	.	-0.261119	0.12768	T	-0.612856	0.11755	T	0.168099865317345	0.18450	T	0.177782	0.01744	T	.	.	.	.	.	.	.	.	-7.626	0.58492	D	.	.	0.224	0.45544	B	.	.	0.282384	0.06594	3.083	0.44924595648877924	0.03489	0.01381	0.04703	N	AEFBI	0.028519	0.02526	N	-0.385439741200818	0.25987	1.414868	-0.673385610186316	0.17627	0.9381749	1.81590448166244E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.16	1.16	0.19936	-0.802000	0.04651	.	.	-0.928000	0.02159	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.0:1.0:0.0	5.678	0.17030	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	.	.	.	.	.	.	.	.	0.25	864.06	34	chr19	8899979	.	G	T	864.06	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-1.412;DP=989;ExcessHet=1.1394;FS=0;MLEAC=3;MLEAF=0.25;MQ=59.02;MQRankSum=-14.51;QD=1.24;ReadPosRankSum=3.03;SOR=0.641	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:240,32:272:99:0|1:8899972_T_C:621,0,9981:8899972	3	0	3	1
chr19	8900001	8900001	C	T	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon38:c.G38984A:p.G12995E	.	417	1065	39	1	0	41	0.0188853	.	.	.	3221801	MUC16-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.054	0.00120842336054	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796151917	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.886e-05	0.0031	1.417e-05	0.0001	0.0002	2.927e-05	2.125e-05	3.799e-05	2.25e-05	0.0001	0	0	0	0	0.0004	0	0	0	0.0002	0.091	0.31834	T	0.064	0.44905	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.58	0.01901	T	-0.88	0.23808	N	0.103	0.08646	-0.9217	0.45320	T	0.007	0.02282	T	8	0.11394003	0.21421	T	0.001208	0.01583	T	0.054	0.15330	0.142	0.04556	0.101711395817	0.09552	0.1462809682678735	0.14550	.	.	0.19396597147	0.00303	T	.	.	.	-0.32769	0.06288	T	-0.708481	0.05374	T	0.163903206586838	0.18155	T	0.165083	0.01523	T	.	.	.	.	.	.	.	.	-6.443	0.49844	T	.	.	0.084	0.09868	B	.	.	-0.242325	0.02882	0.411	0.27013934638062309	0.01321	0.00389	0.01958	N	AEFBI	0.035362	0.04537	N	-0.780672500721295	0.13814	0.6832987	-1.02483553794802	0.09240	0.4585958	8.79614165805569E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.16	0.00923	0.13400	-2.573000	0.00987	.	.	-0.349000	0.05595	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5692:0.4308:0.0:0.0	3.969	0.08937	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	.	.	.	.	.	.	.	.	0.1667	995.84	169	chr19	8900001	.	C	T	995.84	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-1.274;DP=1264;ExcessHet=0.3476;FS=0;MLEAC=2;MLEAF=0.167;MQ=59.05;MQRankSum=-14.61;QD=1.98;ReadPosRankSum=1.94;SOR=0.642	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:244,35:279:99:0|1:8900000_C_T:735,0,10122:8900000	4	0	2	1
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|1:257,37:294:99:0|1:8900000_C_T:780,0,10606:8900000	2	0	4	1
chr19	8979791	8979791	C	T	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon1:c.G1348A:p.E450K	.	432	1087	3	0	0	3	0.00137804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.00128150132885	.	0.00199681	0.0007	0.0003	8.639e-05	0.0001	0	0	0.0033	0.0046	0.0006404	99	154602	rs187576768	0.0003	0.0003	0.0002	0.0005	0.0044	0.0003	0.0003	0.0041	0.0039	0.0003	0	0	2.519e-05	0	0.0005	5.486e-05	0.0005	0.0044	0.0003	0.0003	0.0001	0.0004	0.0052	0.0002	0.0002	0.0036	0.0031	0.0004	0	0	0	0	0	0	0	0.0005	0.0052	0.0	0.91255	D	0.035	0.52389	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0	0.06538	N	4.2	0.02689	T	-0.96	0.25551	N	0.126	0.11912	-0.9174	0.45904	T	0.004	0.01192	T	8	0.005801767	0.00129	T	0.001282	0.01759	T	0.056	0.15993	.	.	0.0716867268079	0.06686	0.05036023235921534	0.04979	.	.	0.229001998901	0.01895	T	.	.	.	-0.602052	0.00142	T	-0.636766	0.09908	T	0.0259355214328966	0.01397	T	0.349965	0.07784	T	.	.	.	.	.	.	.	.	-1.801	0.02512	T	.	.	0.160	0.35435	B	.	.	1.075058	0.14579	11.14	0.6614826107488192	0.07975	0.00025	0.00253	N	AEFBI	0.012650	0.00144	N	-0.953732944587806	0.09609	0.4555195	-1.12467393925365	0.07231	0.3509434	1.23905830076698E-4	0.05386	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.45	-1.26	0.08892	0.601000	0.23818	.	.	0.333000	0.19617	0.000000	0.06391	0.000000	0.08366	0.048000	0.15020	0.0:0.2619:0.3277:0.4104	2.158	0.03584	917	0.20147	.	.	.	.	.	.	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	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	1065.49	47	chr19	8979791	.	C	T	1065.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.1;DP=471;ExcessHet=0;FS=0.721;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.51;ReadPosRankSum=1.3;SOR=0.585	GT:AD:DP:GQ:PL	0/1:68,44:112:99:1076,0,1612	6	0	1	0
chr19	9811357	9811357	G	A	exonic	FBXL12	.	nonsynonymous SNV	FBXL12:NM_001316936:exon2:c.C421T:p.R141C,FBXL12:NM_001316941:exon2:c.C361T:p.R121C,FBXL12:NM_001316937:exon3:c.C361T:p.R121C,FBXL12:NM_001316940:exon3:c.C361T:p.R121C,FBXL12:NM_017703:exon3:c.C520T:p.R174C,FBXL12:NM_001316938:exon4:c.C361T:p.R121C,FBXL12:NM_001316939:exon4:c.C361T:p.R121C,FBXL12:NM_001316942:exon4:c.C361T:p.R121C	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.145	0.00324216057157	.	0.000399361	0.0001	0	0	0.0001	0.0002	1.564e-05	0	0.0007	0.0001035	16	154602	rs562812843	5.689e-05	5.678e-05	3.001e-05	8.402e-05	0.0007	4.685e-05	4.309e-05	0.0006	0.0005	2.987e-05	0	0	2.519e-05	9.844e-05	0.0002	8.993e-06	4.97e-05	0.0007	4.595e-05	4.593e-05	2.569e-05	6.712e-05	0.0008	2.107e-05	1.526e-05	0.0003	0.0002	2.405e-05	0	0	0	0.0002	0	0	1.47e-05	0	0.0008	0.003	0.68238	D	0.024	0.92824	D	0.999	0.77913	D	0.635	0.51908	P	0.019178	0.27317	N	0.331338	0.999998	0.08975	N	1.445	0.36358	L	2.25	0.17761	T	-2.37	0.52289	N	0.185	0.42050	-1.0346	0.18983	T	0.025	0.10643	T	9	0.053542137	0.05563	T	0.003242	0.07147	T	0.145	0.38592	0.601	0.73226	0.426551566703	0.42274	0.6268427262208456	0.62617	0.36432990352	0.38046	0.821000993252	0.85180	D	0.075928	0.35296	T	-0.403208	0.02206	T	-0.444693	0.28285	T	0.135745793581009	0.15903	T	0.816918	0.47330	T	0.10145692	0.23966	0.079696566	0.17964	0.10145692	0.23966	0.079696566	0.17964	-4.629	0.33824	T	.	.	0.099	0.16843	B	.;.;.	.;.;.	3.841797	0.55601	23.6	0.9982794283756149	0.91026	0.06290	0.12284	N	AEFDBCI	0.061173	0.11675	N	-0.337120736970128	0.27747	1.524928	-0.444036312091643	0.23718	1.294932	0.0367746655483384	0.14261	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	4.76	-0.0742	0.13065	1.767000	0.38131	.	.	0.676000	0.76740	0.014000	0.18986	1.000000	0.68203	0.982000	0.59238	0.0905:0.1543:0.4381:0.3171	2.919	0.05408	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	1	0	0	0	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.003788	0.07143	2359.44	43	chr19	9811357	.	G	A	2359.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.389;DP=407;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.08;ReadPosRankSum=1.34;SOR=0.663	GT:AD:DP:GQ:PL	0/1:113,100:213:99:2370,0,2652	6	0	1	0
chr19	11441313	11441313	A	C	exonic	PRKCSH	.	nonsynonymous SNV	PRKCSH:NM_001289102:exon5:c.A424C:p.K142Q,PRKCSH:NM_001001329:exon6:c.A424C:p.K142Q,PRKCSH:NM_001289103:exon6:c.A424C:p.K142Q,PRKCSH:NM_001289104:exon6:c.A424C:p.K142Q,PRKCSH:NM_001379608:exon6:c.A424C:p.K142Q,PRKCSH:NM_001379609:exon6:c.A424C:p.K142Q,PRKCSH:NM_002743:exon6:c.A424C:p.K142Q	Polycystic liver disease 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.0200524585778	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1422414995	2.736e-06	2.736e-06	1.361e-06	4.125e-06	4.637e-05	6.4e-07	4.3e-07	1.583e-05	9.3e-06	0	0	0	0	0	0	0	0	4.637e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.275	0.23433	T	0.012	0.16265	B	0.044	0.24394	B	0.000001	0.62929	D	0.056626	0.98235	0.39882	D	-0.525	0.02545	N	-0.6	0.71662	T	.	.	.	0.292	0.33250	-0.9405	0.42536	T	0.139	0.45715	T	10	0.14685908	0.27837	T	0.020052	0.42561	T	.	.	0.409	0.44395	0.663690798227	0.66086	0.36887946717554126	0.36801	.	.	0.470313608646	0.34723	T	0.004136	0.17750	T	-0.211908	0.19111	T	-0.445314	0.28215	T	0.881199717521667	0.53124	D	0.875312	0.58632	D	0.12193351	0.28664	0.061110627	0.11748	0.12193351	0.28663	0.061110627	0.11748	-6.16	0.48357	T	.	.	0.074	0.14888	B	.;.;.;.;.;.	.;.;.;.;.;.	2.649094	0.34483	19.64	0.88735340317319145	0.18213	0.72675	0.35564	D	AEFDGBI	0.482240	0.52319	N	-0.317938009348629	0.28467	1.570367	-0.0765426407191813	0.36363	2.115193	0.999857120244829	0.44174	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.13	5.13	0.69729	4.018000	0.56886	.	.	0.740000	0.86194	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.8169:0.183:0.0:0.0	9.195	0.36385	824	0.40336	.;Glucosidase II beta subunit, N-terminal;Glucosidase II beta subunit, N-terminal;Glucosidase II beta subunit, N-terminal;.;Glucosidase II beta subunit, 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	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	856.45	35	chr19	11441313	.	A	C	856.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.317;DP=263;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.32;ReadPosRankSum=-1.436;SOR=0.651	GT:AD:DP:GQ:PL	0/1:45,38:83:99:867,0,1112	6	0	1	0
chr19	11576806	11576806	C	T	exonic	ACP5	.	nonsynonymous SNV	ACP5:NM_001611:exon3:c.G299A:p.R100H,ACP5:NM_001111034:exon4:c.G299A:p.R100H,ACP5:NM_001111036:exon4:c.G299A:p.R100H,ACP5:NM_001322023:exon4:c.G299A:p.R100H,ACP5:NM_001111035:exon5:c.G299A:p.R100H	Spondyloenchondrodysplasia with immune dysregulation, Autosomal recessive	0	1497	24	1	0	26	0.00860927	.	.	.	584837	ACP5-related_disorder|Spondyloenchondrodysplasia_with_immune_dysregulation|not_specified|not_provided	.|MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944,Orphanet:1855|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.116	0.0241448777109	0.0012	0.00139776	0.0010	0	0.0007	0.0002	0.0002	0.0013	0	0.0013	0.0009767	151	154602	rs141651325	0.0011	0.0011	0.0011	0.0012	0.0069	0.0011	0.0011	0.0052	0.0046	0.0008	0.0012	0.0029	0.0002	0.0001	0.0069	0.0012	0.0014	0.0009	0.0010	0.0010	0.0009	0.0011	0.0014	0.0009	0.0008	0.0012	0.0011	0.0003	0	0.0013	0.0026	0.0002	0	0.0034	0.0014	0.0038	0.0010	0.412	0.10083	T	0.328	0.18675	T	0.0	0.02946	B	0.0	0.01387	B	0.191034	0.16846	N	0.627316	1	0.08975	N	1.33	0.33268	L	-0.5	0.85003	T	-0.1	0.08495	N	0.134	0.13055	-1.0201	0.23682	T	0.160	0.49397	T	10	0.0076809824	0.00175	T	0.024145	0.47134	T	0.116	0.32463	.	.	0.706117591893	0.70356	0.6713435899814403	0.67072	0.371501420004	0.38645	0.321201384068	0.13603	T	0.303393	0.67574	T	-0.438964	0.01312	T	-0.422332	0.30808	T	0.00377318139497629	0.00040	T	0.935906	0.76011	D	0.09749835	0.22983	0.047042187	0.06690	0.07109338	0.15712	0.04889085	0.07357	-5.07	0.37590	T	0.20344009798441293	0.27087	0.098	0.19720	B	.;.;.;.;.;.	.;.;.;.;.;.	1.669543	0.21287	15.13	0.87931454518656094	0.17589	0.02452	0.06897	N	AEFDBI	0.188931	0.31620	N	-0.956446616032274	0.09548	0.4524053	-0.952801329626404	0.10858	0.5495997	0.00104865131375379	0.08159	0.732398	0.92422	0	0.743671	0.97443	0	0.786243	0.99158	0	0.613276	0.41899	0	.	.	4.87	2.34	0.28071	-0.747000	0.04929	.	.	0.599000	0.40250	0.000000	0.06391	0.592000	0.25676	0.896000	0.43308	0.1561:0.6484:0.0:0.1956	6.115	0.19342	846	0.36215	Calcineurin-like phosphoesterase domain, ApaH type;Calcineurin-like phosphoesterase domain, ApaH type;Calcineurin-like phosphoesterase domain, ApaH type;Calcineurin-like phosphoesterase domain, ApaH type;Calcineurin-like phosphoesterase domain, ApaH type;Calcineurin-like phosphoesterase domain, ApaH 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	0.004028	0.010101	0.000000	0.008772	0.000000	0.000000	0.009146	0.003788	0.07143	1239.83	40	chr19	11576806	.	C	T	1239.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.14;DP=321;ExcessHet=0;FS=1.403;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.86;ReadPosRankSum=-0.013;SOR=0.846	GT:AD:DP:GQ:PL	0/1:85,55:140:99:1250,0,1997	6	0	1	0
chr19	11831991	11831991	G	A	exonic	ZNF440	.	nonsynonymous SNV	ZNF440:NM_152357:exon4:c.G815A:p.R272H	.	423	1094	5	0	0	5	0.00227998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.000808918510534	0.0002	0.00139776	0.0006	0.0003	0.0003	0	0	0.0002	0	0.0034	0.0005886	91	154602	rs199832413	0.0003	0.0003	0.0003	0.0004	0.0027	0.0003	0.0003	0.0025	0.0023	0.0002	0.0002	0	0	5.617e-05	0.0005	0.0002	0.0004	0.0027	0.0003	0.0004	0.0003	0.0004	0.0040	0.0003	0.0002	0.0026	0.0022	0.0002	0	0.0002	0	0	9.425e-05	0	0.0003	0	0.0040	0.138	0.25873	T	0.198	0.27767	T	0.102	0.25827	B	0.031	0.21939	B	.	.	.	.	1	0.08975	N	1.655	0.42436	L	1.95	0.22474	T	-2.54	0.55025	D	0.121	0.11197	-0.9615	0.38897	T	0.030	0.13023	T	9	0.004054308	0.00079	T	8.09E-4	0.00649	T	0.008	0.00669	.	.	0.221734844693	0.21761	0.02193880025590989	0.02145	0.048095875707	0.05251	0.202302068472	0.00526	T	0.006844	0.06266	T	-0.638877	0.00085	T	-0.694782	0.06116	T	0.00880367855476009	0.00109	T	0.140186	0.01129	T	0.032722678	0.03351	0.042088132	0.04932	0.032722678	0.03351	0.042088132	0.04931	-5.352	0.40455	T	.	.	0.110	0.21163	B	.	.	0.683452	0.10520	7.232	0.54251399655805133	0.05100	0.00000	0.00017	N	AEFBCI	.	.	.	-1.31471063042264	0.03506	0.1567288	-1.4694902296257	0.02598	0.1197682	8.7166010352446E-4	0.07946	0.562547	0.31514	0	0.653731	0.59785	0	0.670488	0.60580	0	0.635551	0.53088	0	.	.	1.0	-1.93	0.07180	-2.182000	0.01341	.	.	0.244000	0.18284	0.000000	0.06391	0.000000	0.08366	0.562000	0.30459	0.3504:0.0:0.2282:0.4214	2.245	0.03783	934	0.15400	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	0.001060	0.000000	0.000000	0.008197	0.000000	0.000000	0.003067	0.000000	0.07143	3930.44	78	chr19	11831991	.	G	A	3930.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.75;DP=625;ExcessHet=0;FS=1.357;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.89;ReadPosRankSum=-0.842;SOR=0.784	GT:AD:DP:GQ:PL	0/1:146,159:305:99:3941,0,3371	6	0	1	0
chr19	12319717	12319717	C	T	exonic	ZNF563	.	nonsynonymous SNV	ZNF563:NM_001363608:exon4:c.G308A:p.C103Y,ZNF563:NM_145276:exon4:c.G308A:p.C103Y	.	432	1070	20	0	0	20	0.00925926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	.	.	0.00259585	0.0010	0	8.637e-05	0	0	0.0003	0.0011	0.0065	0.000912	141	154602	rs200876279	0.0004	0.0004	0.0003	0.0006	0.0055	0.0004	0.0004	0.0051	0.0049	0	2.236e-05	0	0	3.744e-05	0.0033	9.802e-05	0.0006	0.0055	0.0004	0.0004	0.0003	0.0005	0.0068	0.0003	0.0003	0.0050	0.0044	2.407e-05	0	0	0	0.0002	0	0	0.0003	0	0.0068	1.0	0.00964	T	1.0	0.15506	T	0.009	0.15093	B	0.015	0.17295	B	.	.	.	.	0.999924	0.19486	N	-0.435	0.02851	N	2.87	0.10386	T	-5.48	0.85692	D	0.097	0.07811	-0.9364	0.43180	T	0.010	0.03537	T	9	0.006224215	0.00140	T	.	.	.	0.069	0.20116	.	.	0.0297737177859	0.01360	0.20285487040038153	0.20202	0.160696384442	0.18139	0.237996399403	0.02612	T	0.221563	0.58517	T	-0.639767	0.00084	T	-0.689976	0.06390	T	0.0152120328931474	0.00334	T	0.119588	0.08641	T	0.10350633	0.24465	0.27528387	0.53463	0.10350633	0.24465	0.27528387	0.53462	-4.444	0.30149	T	.	.	0.084	0.25850	B	.;.;.	.;.;.	0.277470	0.06548	3.031	0.25871228792176176	0.01213	0.00369	0.01880	N	AEFBCI	0.032383	0.03648	N	-1.39088578848653	0.02723	0.1206324	-1.42107454912294	0.03042	0.1411457	1.03060331616272E-5	0.01202	0.562547	0.31514	0	0.653731	0.59785	0	0.463624	0.06942	0	0.564101	0.26826	0	.	.	0.724	0.724	0.17389	-0.075000	0.11392	.	.	0.306000	0.19039	0.000000	0.06391	0.000000	0.08366	0.013000	0.09966	0.0:0.9999:0.0:1.0E-4	7.254	0.25339	923	0.18507	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	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.003788	0.1429	4312.24	137	chr19	12319717	.	C	T	4312.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.551;DP=513;ExcessHet=0.3476;FS=2.3;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=12.05;ReadPosRankSum=1.16;SOR=0.836	GT:AD:DP:GQ:PL	0/1:115,106:221:99:2466,0,2786	5	0	2	0
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	0/1:25,10:35:99:.:.:312,0,959:.	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	0/1:25,10:35:99:.:.:312,0,959:.	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	0/1:25,10:35:99:.:.:312,0,959:.	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	1/0:0,12:25:99:1639,388,294	0	4	2	1
chr19	17733420	17733420	G	C	exonic	MAP1S	.	nonsynonymous SNV	MAP1S:NM_001308363:exon6:c.G2938C:p.D980H,MAP1S:NM_018174:exon6:c.G3016C:p.D1006H	.	424	1095	3	0	0	3	0.00136799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.096	0.0240081847222	0.0066	0.00199681	0.0062	0.0009	0.0037	0	0.0018	0.0088	0.0020	0.0054	0.0038874	601	154602	rs114901293	0.0050	0.0050	0.0049	0.0052	0.0055	0.0049	0.0049	0.0054	0.0054	0.0008	0.0021	0.0103	0	0.0027	0.0022	0.0055	0.0045	0.0043	0.0042	0.0042	0.0047	0.0037	0.0069	0.0039	0.0038	0.0064	0.0062	0.0007	0	0.0029	0.0130	0	0.0015	0.0034	0.0069	0.0028	0.0052	0.007	0.59928	D	0.043	0.60972	D	0.992	0.64738	D	0.823	0.59197	P	0.018424	0.27485	N	0.252876	0.855565	0.35296	D	1.65	0.42232	L	2.06	0.20523	T	-2.63	0.56466	D	0.421	0.46086	-0.9916	0.32193	T	0.036	0.15422	T	10	0.0077207386	0.00175	T	0.024008	0.46991	T	0.096	0.27654	.	.	0.151262610727	0.14761	0.5873062928422046	0.58660	0.836008558845	0.67823	0.511370480061	0.40414	T	0.272286	0.64466	T	-0.462618	0.00946	T	-0.43259	0.29641	T	0.0174672846475478	0.00482	T	0.733627	0.39993	T	0.28238627	0.51276	0.24377659	0.49828	0.28238627	0.51276	0.24377659	0.49827	-6.923	0.53469	T	.	.	0.200	0.49740	B	.;.;.	.;.;.	3.572893	0.50333	22.9	0.99057348742439266	0.51390	0.96231	0.68139	D	AEFDBI	0.423772	0.48922	N	0.10266107767407	0.46585	2.896774	-0.01658407121314	0.38965	2.303336	0.650148650604966	0.22154	0.722319	0.85440	0	0.702456	0.74545	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	4.29	4.29	0.50359	1.031000	0.29773	6.262000	0.55347	0.575000	0.29119	0.411000	0.26257	1.000000	0.68203	0.062000	0.16114	0.0:0.0:1.0:0.0	14.191	0.65180	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	0.002024	0.000000	0.002717	0.000000	0.000000	0.000000	0.003086	0.003817	0.07143	1093.53	33	chr19	17733420	.	G	C	1093.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.654;DP=288;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.62;ReadPosRankSum=2.62;SOR=0.75	GT:AD:DP:GQ:PL	0/1:55,48:103:99:1104,0,1266	6	0	1	0
chr19	18257742	18257742	C	T	exonic	IQCN	.	nonsynonymous SNV	IQCN:NM_001145304:exon4:c.G3542A:p.R1181Q,IQCN:NM_001145305:exon4:c.G2843A:p.R948Q,IQCN:NM_025249:exon4:c.G2981A:p.R994Q	.	430	1063	28	1	0	30	0.0139147	.	.	.	2811843	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.048	0.00561481164736	0.0025	0.00199681	0.0027	0.0007	0.0038	0	0.0002	0.0040	0.0012	0.0004	0.0026778	414	154602	rs147110090	0.0038	0.0038	0.0039	0.0037	0.0044	0.0037	0.0037	0.0043	0.0043	0.0007	0.0032	0.0042	2.521e-05	0.0003	0.0028	0.0044	0.0032	0.0007	0.0027	0.0027	0.0028	0.0026	0.0051	0.0025	0.0024	0.0042	0.0038	0.0006	0	0.0051	0.0035	0	9.416e-05	0.0136	0.0041	0.0047	0.0015	0.269	0.16091	T	0.467	0.12351	T	0.648	0.40583	P	0.072	0.28043	B	0.488781	0.05024	N	1.467820	1	0.08975	N	.	.	.	3.94	0.03544	T	-0.1	0.08495	N	0.07	0.05929	-0.9079	0.47109	T	0.004	0.01400	T	10	0.0059554875	0.00134	T	0.005615	0.14500	T	0.048	0.13305	.	.	0.0551355673512	0.04727	0.046398099178604615	0.04583	0.209070641549	0.23371	0.206471741199	0.00670	T	0.004904	0.04322	T	-0.732653	0.00023	T	-0.825326	0.01348	T	0.00359907381321254	0.00038	T	0.559044	0.20591	T	0.023774633	0.01146	0.039027713	0.03904	0.023774633	0.01146	0.039027713	0.03904	-4.45	0.30915	T	.	.	0.081	0.18705	B	.;.;.;.	.;.;.;.	-0.707385	0.01304	0.070	0.95511092694057775	0.27115	0.01951	0.05929	N	AEFDBHCI	0.038037	0.05324	N	-1.10275933400737	0.06594	0.3039807	-1.23907239928053	0.05295	0.2519379	1.11638662379748E-4	0.05269	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.542086	0.14980	0	.	.	4.26	-4.28	0.03475	-1.511000	0.02364	-4.576000	0.02087	-1.032000	0.01689	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.6529:0.1628:0.1843	8.402	0.31753	871	0.31377	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	0	0	0	1	0	1	0	0.009567	0.020408	0.012228	0.000000	0.000000	0.000000	0.021341	0.003788	0.07143	1912.44	34	chr19	18257742	.	C	T	1912.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.43;DP=403;ExcessHet=0;FS=0.622;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.56;ReadPosRankSum=-0.79;SOR=0.609	GT:AD:DP:GQ:PL	0/1:68,73:141:99:1923,0,1729	6	0	1	0
chr19	18884240	18884240	C	T	exonic	CERS1	.	nonsynonymous SNV	CERS1:NM_001290265:exon3:c.G143A:p.R48Q,CERS1:NM_021267:exon3:c.G437A:p.R146Q,CERS1:NM_198207:exon3:c.G437A:p.R146Q	.	420	1081	21	0	0	21	0.00961979	.	.	.	469512	Progressive_myoclonic_epilepsy_type_8	MONDO:MONDO:0014545,MedGen:C5190825,OMIM:616230,Orphanet:424027	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.187	0.111186551468	.	0.000199681	0.0003	0	0	0.0001	0	0.0001	0.0013	0.0016	0.0002199	34	154602	rs201005099	0.0001	0.0001	7.899e-05	0.0002	0.0023	0.0001	0.0001	0.0013	0.0012	0	4.476e-05	0	5.039e-05	0	0.0023	1.889e-05	0.0004	0.0015	4.601e-05	4.594e-05	5.144e-05	4.033e-05	0.0002	2.11e-05	1.527e-05	1.171e-05	6.25e-06	0	0	6.553e-05	0	0	0	0	4.411e-05	0.0010	0.0002	0.335	0.14843	T	0.629	0.07842	T	0.013	0.16609	B	0.012	0.16012	B	.	.	.	.	0.996427	0.81001	N	0.54	0.13725	N	-1.89	0.84557	D	-0.64	0.19933	N	0.243	0.28028	-0.6339	0.63405	T	0.395	0.74829	T	9	0.02847308	0.00979	T	0.111187	0.78886	D	0.187	0.46274	.	.	0.438278051908	0.43446	.	.	.	.	0.284476578236	0.08124	T	0.536708	0.84064	D	-0.378817	0.03170	T	-0.341549	0.40169	T	0.02746082407502	0.01610	T	0.775922	0.40781	T	0.036260776	0.04428	0.03857445	0.03757	0.043206904	0.06692	0.039683353	0.04118	-6.045	0.46654	T	0.1983911356062313	0.26269	0.088	0.13080	B	.;.;.	.;.;.	1.217706	0.16111	12.33	0.97735577517697381	0.35646	0.39342	0.26191	N	AEFBHCI	0.220516	0.34526	N	-0.681057154112685	0.16563	0.8449095	-0.64067046042269	0.18452	0.985804	0.999998515731578	0.74766	0.634777	0.41761	0	0.588066	0.40923	0	0.643519	0.47002	0	0.755437	0.99637	0	.	.	4.12	3.08	0.34576	1.010000	0.29500	0.706000	0.20886	-0.371000	0.05444	0.523000	0.27135	0.176000	0.23382	0.014000	0.10232	0.0:0.7291:0.1716:0.0993	7.298	0.25579	929	0.16858	TRAM/LAG1/CLN8 homology domain|TRAM/LAG1/CLN8 homology domain|TRAM/LAG1/CLN8 homology domain;.;TRAM/LAG1/CLN8 homology domain|TRAM/LAG1/CLN8 homology domain|TRAM/LAG1/CLN8 homology 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	0.002591	0.000000	0.001359	0.000000	0.000000	0.008621	0.003049	0.007576	0.07143	1478.63	41	chr19	18884240	.	C	T	1478.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.15;DP=317;ExcessHet=0;FS=2.301;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.29;ReadPosRankSum=0.226;SOR=0.919	GT:AD:DP:GQ:PL	0/1:68,63:131:99:1489,0,1498	6	0	1	0
chr19	19202485	19202485	G	A	exonic	NR2C2AP	.	nonsynonymous SNV	NR2C2AP:NM_001300945:exon3:c.C220T:p.R74W,NR2C2AP:NM_176880:exon3:c.C220T:p.R74W	.	428	1093	1	0	0	1	0.000457247	.	.	.	3362516	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.347	0.271530317722	0.0002	.	4.133e-05	0.0002	8.657e-05	0	0	1.505e-05	0	6.061e-05	3.23e-05	5	154602	rs147207744	1.231e-05	1.231e-05	9.529e-06	1.513e-05	0.0002	7.7e-06	6.35e-06	7.712e-05	5.305e-05	0.0002	0	0	0	0	0.0002	7.194e-06	0	3.478e-05	3.944e-05	3.94e-05	5.14e-05	2.691e-05	0.0002	1.716e-05	1.13e-05	8e-06	2.99e-06	4.826e-05	0	6.551e-05	0	0.0002	0	0	2.94e-05	0	0	0.008	0.58626	D	0.01	0.65728	D	0.986	0.61523	D	0.646	0.52296	P	0.483737	0.12136	N	0.755060	1	0.08975	N	1.59	0.40313	L	-4.83	0.98213	D	-2.67	0.57110	D	0.37	0.41952	0.551	0.91250	D	0.899	0.96655	D	10	0.32791772	0.50068	T	0.27153	0.89897	D	0.347	0.66863	.	.	0.738533403591	0.73619	0.42997906830303645	0.42914	0.55338393667	0.52113	0.213305860758	0.00959	T	0.193032	0.54837	T	-0.01885	0.49018	T	-0.0833252	0.64660	T	0.68551504611969	0.40041	D	0.929607	0.73996	D	0.09919919	0.23407	0.11682038	0.28201	0.09919919	0.23407	0.11682038	0.28201	-8.597	0.70604	D	.	.	0.108	0.20313	B	.;.;.	.;.;.	3.511695	0.49179	22.7	0.99824921696868452	0.90764	0.21593	0.21456	N	AEFDBCI	0.448808	0.50389	N	-0.188480063990613	0.33612	1.908979	-0.317629177520249	0.27528	1.528215	0.999999463607033	0.74766	0.542737	0.22433	0	0.516746	0.08562	0	0.685571	0.62057	0	0.627883	0.49187	0	.	.	4.48	2.34	0.28071	0.753000	0.26042	.	.	0.676000	0.76740	0.002000	0.15269	0.024000	0.20971	0.872000	0.41544	0.2087:0.0:0.7913:0.0	6.956	0.23752	730	0.54327	.;.;.	.	.	.	.	.	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	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	939.83	30	chr19	19202485	.	G	A	939.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.68;DP=246;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.93;ReadPosRankSum=-0.222;SOR=0.779	GT:AD:DP:GQ:PL	0/1:48,38:86:99:950,0,1146	6	0	1	0
chr19	19542549	19542549	G	A	exonic	CILP2	.	nonsynonymous SNV	CILP2:NM_153221:exon5:c.G767A:p.R256H	.	413	1108	1	0	0	1	0.00045106	.	.	.	3293849	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.019	0.00901405987365	.	.	5.792e-05	0	0	0.0001	0	7.529e-05	0	6.061e-05	5.17e-05	8	154602	rs746138110	2.258e-05	2.257e-05	1.77e-05	2.75e-05	0.0002	1.61e-05	1.416e-05	5.396e-05	4.042e-05	0	2.236e-05	0	5.038e-05	0	0.0002	1.709e-05	1.656e-05	0.0001	5.91e-05	5.906e-05	6.425e-05	5.372e-05	0.0002	3.076e-05	2.209e-05	3.762e-05	2.575e-05	0	0.0011	6.537e-05	0	0	0	0	8.82e-05	0	0.0002	0.195	0.20759	T	0.123	0.35582	T	0.011	0.15914	B	0.009	0.14300	B	0.654236	0.10485	N	0.860909	1	0.08975	N	1.01	0.25309	L	0.89	0.45636	T	-0.45	0.14782	N	0.087	0.06454	-1.0526	0.13682	T	0.052	0.22114	T	10	0.031148076	0.01246	T	0.009014	0.23726	T	0.019	0.03383	0.512	0.61000	0.183819452728	0.17975	0.22321517960196918	0.22236	0.450419126629	0.44807	0.208969503641	0.00768	T	0.028117	0.20438	T	-0.482508	0.00715	T	-0.705164	0.05548	T	0.0329962894198669	0.02470	T	0.349965	0.07784	T	0.01850074	0.00371	0.020112673	0.00119	0.01850074	0.00371	0.020112673	0.00119	-5.975	0.46070	T	.	.	0.078	0.07554	B	.;.	.;.	-0.300937	0.02613	0.326	0.90033307310157074	0.19321	0.00559	0.02549	N	AEFBIJ	0.021178	0.00915	N	-1.74757219539391	0.00687	0.02962901	-1.85909081534298	0.00588	0.02611209	0.99965679095282	0.41424	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	4.94	-8.87	0.00682	-0.647000	0.05495	.	.	-0.798000	0.03190	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.4396:0.0:0.3561:0.2043	5.661	0.16942	432	0.80690	.;.	.	.	.	.	.	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	2152.44	36	chr19	19542549	.	G	A	2152.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.018;DP=346;ExcessHet=0;FS=1.254;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.71;ReadPosRankSum=1.31;SOR=0.665	GT:AD:DP:GQ:PL	0/1:71,86:157:99:2163,0,1633	6	0	1	0
chr19	20624486	20624486	C	T	exonic	ZNF626	.	nonsynonymous SNV	ZNF626:NM_001076675:exon4:c.G1391A:p.C464Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	.	.	0.446885	2.998e-05	0	0	0.0004	0	0	0	0	0.0919779	2394	26028	rs4809072	0.0002	0.0002	0.0001	0.0002	0.0030	0.0001	0.0001	0.0022	0.0019	0	0.0004	0	0.0030	0.0001	0	7.296e-05	0	7.04e-05	0.0003	0.0010	0.0003	0.0002	0.0003	0.0001	0.0001	0.0001	7.42e-05	0.0003	0	0	0	0	0.0011	0	0.0003	0	0	.	.	.	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	P	-0.28	0.03718	N	3.31	0.06291	T	.	.	.	0.025	0.00485	-0.9838	0.34116	T	0.027	0.11663	T	7	0.0010643601	0.00013	T	.	.	.	.	.	.	.	0.119812018005	0.11559	0.02119906159764436	0.02072	0.0631605856782	0.07030	.	.	.	0.001634	0.01065	T	-0.449283	0.01140	T	-0.883141	0.00628	T	0.0362565110174806	0.03025	T	0.00926574	0.00046	T	0.056330957	0.11069	0.077378936	0.17230	0.056330957	0.11069	0.077378936	0.17229	-2.064	0.03432	T	.	.	0.153	0.33891	B	.	.	-0.492626	0.01890	0.156	0.18917596573791187	0.00616	0.00218	0.01233	N	AEFBCI	0.012875	0.00154	N	-1.9627230173346	0.00254	0.01089118	-2.01786009745421	0.00281	0.01238821	1.5135310678986E-6	0.01202	0.475973	0.10046	0	0.573888	0.26702	0	0.670488	0.60580	0	0.564101	0.26826	0	.	.	0.832	-1.66	0.07824	-1.044000	0.03642	.	.	-0.716000	0.03877	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.7464:0.0:0.2536	6.437	0.21031	982	0.03397	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	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	0.424958	0.354839	0.417339	0.400000	0.375000	0.513889	0.505319	0.462963	0.3333	4112.96	48	chr19	20624486	.	C	T	4112.96	.	AC=2;AF=0.333;AN=6;DP=508;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.5;MQ=58.03;QD=13.53;SOR=1.069	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,223:223:99:1|1:20624371_G_GA:5595,494,0:20624371	2	1	0	4
chr19	20624522	20624533	AATTTCTCTCCA	-	exonic	ZNF626	.	nonframeshift deletion	ZNF626:NM_001076675:exon4:c.1344_1355del:p.G449_F452del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	68.06	53	chr19	20624521	.	GAATTTCTCTCCA	G	68.06	.	AC=2;AF=0.143;AN=14;DP=435;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=57.8;QD=34.03;SOR=2.303	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,2:2:1:1|1:20624371_G_GA:79,1,0:20624371	6	1	0	0
chr19	20624535	20624685	TATGAATTCTCCTATGTGTAGTAAGGATTGAGGACTGGTTGAAGGCTTTGCCACATTCTTCACATTTGTAGGGTCTCTCTCCAGTATGAATTTTCTTATGTGTAGTAAGGTTAGAGGAGTACTTAAAAGCTTTGCCACATTCTTCACATTT	-	exonic	ZNF626	.	frameshift deletion	ZNF626:NM_001076675:exon4:c.1192_1342del:p.K398Lfs*64	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	55.8	56	chr19	20624534	.	GTATGAATTCTCCTATGTGTAGTAAGGATTGAGGACTGGTTGAAGGCTTTGCCACATTCTTCACATTTGTAGGGTCTCTCTCCAGTATGAATTTTCTTATGTGTAGTAAGGTTAGAGGAGTACTTAAAAGCTTTGCCACATTCTTCACATTT	G	55.8	.	AC=1;AF=0.071;AN=14;DP=498;ExcessHet=0;FS=4.771;MLEAC=1;MLEAF=0.071;MQ=58.52;MQRankSum=-0.967;QD=18.6;SOR=2.225	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1,2:3:15:0|1:20624371_G_GA:66,0,15:20624371	6	0	1	0
chr19	20624546	20624546	C	0	exonic	ZNF626	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	10193.8	57	chr19	20624546	.	C	*	10193.8	.	AC=2;AF=0.25;AN=8;BaseQRankSum=1.78;DP=479;ExcessHet=0;FS=3.865;MLEAC=1;MLEAF=0.125;MQ=55.19;MQRankSum=-0.843;QD=30.37;ReadPosRankSum=0.469;SOR=0.816	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,2:2:3:1|1:20624371_G_GA:3881,265,0:20624371	3	1	0	3
chr19	22857852	22857852	G	T	exonic	ZNF723	.	nonsynonymous SNV	ZNF723:NM_001349726:exon4:c.G961T:p.A321S	.	431	1085	6	0	0	6	0.00275735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796134426	0	5.859e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11505282	0.21665	T	.	.	.	.	.	.	.	.	.	0.0011570423156071568	0.00106	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0312969	0.00197	T	0.048392657	0.08426	0.13428065	0.32180	0.048392657	0.08425	0.13428065	0.32180	-6.967	0.53792	T	.	.	0.152	0.33687	B	.	.	1.055981	0.14373	10.95	0.46344815176862447	0.03705	0.00066	0.00474	N	AEFBHCI	.	.	.	.	.	.	.	.	.	1.46288502030522E-6	0.01202	0.053691	0.00478	0	0.063388	0.01293	0	0.063197	0.01477	0	0.062806	0.01542	0	0.0449823	0.04150	0.428	0.428	0.15714	-0.208000	0.09375	.	.	0.233000	0.18164	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	0.0:0.0:0.4049:0.5951	4.429	0.10944	988	0.01987	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	155.44	38	chr19	22857852	.	G	T	155.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.171;DP=340;ExcessHet=0;FS=5.836;MLEAC=1;MLEAF=0.071;MQ=59.43;MQRankSum=-9.182;QD=1.01;ReadPosRankSum=2.09;SOR=1.239	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:140,14:154:99:0|1:22857852_G_T:166,0,5813:22857852	6	0	1	0
chr19	22857858	22857858	-	GG	exonic	ZNF723	.	frameshift insertion	ZNF723:NM_001349726:exon4:c.967_968insGG:p.N323Rfs*96	.	427	1090	5	0	0	5	0.00228833	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1333790266	0	5.843e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	143.41	38	chr19	22857858	.	A	AGG	143.41	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.645;DP=341;ExcessHet=0;FS=5.799;MLEAC=1;MLEAF=0.071;MQ=59.43;MQRankSum=-9.308;QD=0.91;ReadPosRankSum=2.98;SOR=1.252	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:144,14:158:99:0|1:22857852_G_T:154,0,5980:22857852	6	0	1	0
chr19	22857860	22857861	CC	-	exonic	ZNF723	.	frameshift deletion	ZNF723:NM_001349726:exon4:c.969_970del:p.N323Kfs*9	.	431	1086	5	0	0	5	0.00229674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1341089980	0	5.843e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	140.41	38	chr19	22857859	.	ACC	A	140.41	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.551;DP=342;ExcessHet=0;FS=5.775;MLEAC=1;MLEAF=0.071;MQ=59.43;MQRankSum=-9.339;QD=0.88;ReadPosRankSum=3.61;SOR=1.258	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:145,14:159:99:0|1:22857852_G_T:151,0,6022:22857852	6	0	1	0
chr19	22857864	22857864	C	T	exonic	ZNF723	.	nonsynonymous SNV	ZNF723:NM_001349726:exon4:c.C973T:p.P325S	.	439	1077	6	0	0	6	0.00277778	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796676925	1.644e-06	6.303e-05	0	3.248e-06	2.23e-06	2.7e-07	1e-07	3.7e-07	1.4e-07	0	0	0	0	0	0	2.23e-06	0	0	0.0001	0.0033	0.0001	0.0002	0.0005	9.603e-05	7.968e-05	9.568e-05	3.999e-05	9.546e-05	0	8.244e-05	0	0.0005	0.0007	0	0.0001	0	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09749955	0.17564	T	.	.	.	.	.	.	.	.	.	0.0014496354848490666	0.00133	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0819918	0.00602	T	0.032428093	0.03267	0.07523396	0.16541	0.032428093	0.03267	0.07523396	0.16541	0.593	0.00194	T	.	.	0.218	0.44758	B	.	.	-0.948306	0.00848	0.029	0.097674670674040717	0.00107	0.00019	0.00214	N	AEFBHCI	.	.	.	.	.	.	.	.	.	1.61874606525676E-6	0.01202	0.053691	0.00478	0	0.063388	0.01293	0	0.063197	0.01477	0	0.062806	0.01542	0	0.0449823	0.04150	0.428	-0.855	0.10158	-0.468000	0.06733	.	.	-2.334000	0.00313	0.000000	0.06391	0.072000	0.22236	0.000000	0.00833	0.2452:0.2368:0.0:0.518	2.236	0.03761	988	0.01987	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	140.45	38	chr19	22857864	.	C	T	140.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.817;DP=342;ExcessHet=0;FS=5.811;MLEAC=1;MLEAF=0.071;MQ=59.43;MQRankSum=-9.339;QD=0.88;ReadPosRankSum=4.22;SOR=1.247	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:145,14:159:99:0|1:22857852_G_T:151,0,6046:22857852	6	0	1	0
chr19	22857879	22857879	A	G	exonic	ZNF723	.	nonsynonymous SNV	ZNF723:NM_001349726:exon4:c.A988G:p.T330A	.	426	1091	5	0	0	5	0.00228624	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796901204	0	5.777e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.106212884	0.19672	T	.	.	.	.	.	.	.	.	.	0.0011354493335686896	0.00104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.130287	0.01023	T	0.0445498	0.07139	0.07092379	0.15127	0.0445498	0.07139	0.07092379	0.15126	-6.748	0.52171	T	.	.	0.096	0.15341	B	.	.	0.474704	0.08445	5.200	0.32050259991320668	0.01837	0.00060	0.00440	N	AEFBHCI	.	.	.	.	.	.	.	.	.	1.17369499889849E-6	0.01202	0.053691	0.00478	0	0.063388	0.01293	0	0.063197	0.01477	0	0.062806	0.01542	0	0.0449823	0.04150	0.428	0.428	0.15714	-1.949000	0.01622	.	.	-2.082000	0.00402	0.000000	0.06391	0.002000	0.18203	0.000000	0.00833	0.4225:0.0:0.5775:0.0	3.661	0.07775	988	0.01987	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	122.44	38	chr19	22857879	.	A	G	122.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.436;DP=350;ExcessHet=0;FS=5.812;MLEAC=1;MLEAF=0.071;MQ=59.45;MQRankSum=-9.524;QD=0.74;ReadPosRankSum=4.5;SOR=1.239	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:151,14:165:99:0|1:22857852_G_T:133,0,6298:22857852	6	0	1	0
chr19	22857910	22857910	T	C	exonic	ZNF723	.	nonsynonymous SNV	ZNF723:NM_001349726:exon4:c.T1019C:p.L340P	.	445	1071	6	0	0	6	0.0027933	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0015752	41	26028	rs767929204	4.672e-06	2.711e-05	6.28e-06	3.09e-06	6.3e-06	1.68e-06	1.1e-06	2.27e-06	1.49e-06	0	0	0	0	0	0	6.3e-06	0	0	0.0004	0.0012	0.0005	0.0004	0.0011	0.0003	0.0003	0.0004	0.0003	0.0004	0	0.0007	0.0004	0.0008	0	0.0069	0.0003	0.0013	0.0011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.10624209	0.19677	T	.	.	.	.	.	.	.	.	.	0.0014453664641654411	0.00133	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0222478	0.00126	T	0.08294697	0.19132	0.15761347	0.36846	0.08294697	0.19132	0.15761347	0.36845	1.069	0.00123	T	.	.	0.039	0.00011	B	.	.	-0.019318	0.04151	0.994	0.46309357350867114	0.03700	0.00006	0.00120	N	AEFBHCI	.	.	.	.	.	.	.	.	.	1.84147049042891E-6	0.01202	0.053691	0.00478	0	0.063388	0.01293	0	0.063197	0.01477	0	0.062806	0.01542	0	0.0851642	0.19377	0.428	-0.855	0.10158	1.176000	0.31566	.	.	-0.915000	0.02235	0.157000	0.23755	0.000000	0.08366	0.007000	0.07825	0.0:0.4184:0.0:0.5816	5.046	0.13825	988	0.01987	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	119.44	38	chr19	22857910	.	T	C	119.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.513;DP=352;ExcessHet=0;FS=5.59;MLEAC=1;MLEAF=0.071;MQ=59.47;MQRankSum=-10.12;QD=0.72;ReadPosRankSum=-0.318;SOR=1.29	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:152,14:166:99:0|1:22857852_G_T:130,0,6340:22857852	6	0	1	0
chr19	22857915	22857915	A	C	exonic	ZNF723	.	nonsynonymous SNV	ZNF723:NM_001349726:exon4:c.A1024C:p.K342Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1189533116	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11437926	0.21517	T	.	.	.	.	.	.	.	.	.	0.0011378730356342316	0.00104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0378962	0.00263	T	0.112948045	0.26679	0.15756989	0.36837	0.112948045	0.26679	0.15756989	0.36836	-7.222	0.55639	T	.	.	0.167	0.36712	B	.	.	2.541903	0.32887	19.18	0.57016680489115801	0.05677	0.00075	0.00520	N	AEFBHCI	.	.	.	.	.	.	.	.	.	1.54865529999369E-6	0.01202	0.053691	0.00478	0	0.063388	0.01293	0	0.063197	0.01477	0	0.062806	0.01542	0	0.0851642	0.19377	0.428	-0.855	0.10158	-0.216000	0.09271	.	.	0.259000	0.18387	0.000000	0.06391	0.000000	0.08366	0.021000	0.11733	0.5252:0.0:0.2157:0.259	2.007	0.03267	988	0.01987	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	116.44	38	chr19	22857915	.	A	C	116.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.422;DP=353;ExcessHet=0;FS=5.628;MLEAC=1;MLEAF=0.071;MQ=59.47;MQRankSum=-10.15;QD=0.7;ReadPosRankSum=-1.247;SOR=1.284	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:153,14:167:99:0|1:22857852_G_T:127,0,6382:22857852	6	0	1	0
chr19	36720118	36720118	T	G	exonic	ZNF567	.	nonsynonymous SNV	ZNF567:NM_001363651:exon4:c.T1301G:p.V434G,ZNF567:NM_001322911:exon5:c.T1301G:p.V434G,ZNF567:NM_001322912:exon5:c.T1301G:p.V434G,ZNF567:NM_152603:exon5:c.T1301G:p.V434G,ZNF567:NM_001300979:exon6:c.T1394G:p.V465G,ZNF567:NM_001322913:exon6:c.T1394G:p.V465G,ZNF567:NM_001322914:exon6:c.T1394G:p.V465G,ZNF567:NM_001322916:exon6:c.T1394G:p.V465G,ZNF567:NM_001322917:exon6:c.T1394G:p.V465G,ZNF567:NM_001322919:exon6:c.T1394G:p.V465G,ZNF567:NM_001322915:exon7:c.T1394G:p.V465G,ZNF567:NM_001322918:exon7:c.T1394G:p.V465G,ZNF567:NM_001322920:exon7:c.T1394G:p.V465G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.198	0.0108122537487	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	2.987e-05	0	0	.	.	2.987e-05	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.105	0.44702	T	0.891	0.52445	P	0.575	0.54098	P	0.099290	0.19940	N	0.363138	1	0.08975	N	1.09	0.27330	L	1.18	0.37746	T	-3.48	0.67941	D	0.256	0.35727	-1.0648	0.10596	T	0.080	0.31645	T	10	0.25192565	0.42539	T	0.010812	0.27768	T	0.198	0.48105	0.424	0.46857	0.750989448909	0.74873	0.21413334762583097	0.21329	0.999382502229	0.74359	0.471629559994	0.34905	T	0.152742	0.49328	T	0.0183792	0.54163	T	-0.211376	0.53562	T	0.560900488225629	0.34889	D	0.0274473	0.00684	T	0.3493395	0.57015	0.23642465	0.48913	0.3493395	0.57015	0.23642465	0.48912	-6.432	0.52967	T	.	.	0.609	0.71546	P	.;.;.;.	.;.;.;.	2.681242	0.34976	19.77	0.99303967727963149	0.58722	0.00057	0.00426	N	AEFGBHCI	0.115960	0.22778	N	-0.267902336698768	0.30394	1.694408	-0.369039086516702	0.25925	1.428792	0.01794637273149	0.13006	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.674467	0.66132	0	.	.	4.88	2.79	0.31792	0.015000	0.13250	.	.	-0.308000	0.06107	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.1739:0.0931:0.1818:0.5512	1.609	0.02528	604	0.67577	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	1250.83	37	chr19	36720118	.	T	G	1250.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.71;DP=305;ExcessHet=0;FS=1.681;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.45;ReadPosRankSum=-0.75;SOR=0.502	GT:AD:DP:GQ:PL	0/1:45,48:93:99:1261,0,1118	6	0	1	0
chr19	36720655	36720655	T	C	exonic	ZNF567	.	nonsynonymous SNV	ZNF567:NM_001322911:exon5:c.T1838C:p.I613T,ZNF567:NM_001322912:exon5:c.T1838C:p.I613T,ZNF567:NM_152603:exon5:c.T1838C:p.I613T,ZNF567:NM_001300979:exon6:c.T1931C:p.I644T,ZNF567:NM_001322913:exon6:c.T1931C:p.I644T,ZNF567:NM_001322914:exon6:c.T1931C:p.I644T,ZNF567:NM_001322916:exon6:c.T1931C:p.I644T,ZNF567:NM_001322917:exon6:c.T1931C:p.I644T,ZNF567:NM_001322919:exon6:c.T1931C:p.I644T,ZNF567:NM_001322915:exon7:c.T1931C:p.I644T,ZNF567:NM_001322918:exon7:c.T1931C:p.I644T,ZNF567:NM_001322920:exon7:c.T1931C:p.I644T	.	432	1002	84	4	0	92	0.0438931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	.	0.0050	0.014377	0.0132	0.0005	0.0045	0.0002	0.0015	0.0067	0.0208	0.0880	0.012917	1997	154602	rs140175549	0.0096	0.0100	0.0077	0.0115	0.0796	0.0095	0.0094	0.0779	0.0772	0.0008	0.0052	0.0101	0.0002	0.0015	0.0211	0.0059	0.0114	0.0796	0.0070	0.0070	0.0062	0.0077	0.0728	0.0066	0.0065	0.0665	0.0641	0.0009	0.0022	0.0060	0.0086	0.0002	0.0009	0.0272	0.0075	0.0100	0.0728	0.025	0.47745	D	0.035	0.52389	D	0.037	0.20876	B	0.014	0.16862	B	0.001837	0.00831	N	3.122940	1	0.81001	D	-0.26	0.03792	N	3.2	0.08283	T	0.06	0.06253	N	0.052	0.02366	-1.0035	0.28903	T	0.013	0.05177	T	10	0.0017394125	0.00022	T	.	.	.	0.116	0.32463	.	.	.	.	0.02467897446445342	0.02418	0.341437195331	0.36074	0.370252728462	0.20868	T	0.012319	0.10847	T	-0.63367	0.00091	T	-0.622987	0.10953	T	0.00912857202348307	0.00115	T	0.367963	0.08605	T	0.09304879	0.21845	0.085792944	0.19833	0.09304879	0.21844	0.085792944	0.19832	-2.883	0.09406	T	.	.	0.052	0.00742	B	.;.;.	.;.;.	0.981068	0.13585	10.11	0.97326509846944032	0.33403	0.00094	0.00618	N	AEFGBHCI	0.087069	0.17654	N	-0.628539992432899	0.18090	0.9364359	-0.538686525464082	0.21106	1.140228	0.999444655585273	0.39736	0.615465	0.37627	0	0.633656	0.55848	0	0.670488	0.60580	0	0.528226	0.09195	0	.	.	4.88	4.88	0.63131	0.655000	0.24618	.	.	0.497000	0.22564	0.002000	0.15269	0.000000	0.08366	0.780000	0.36908	0.0:0.0:0.0:1.0	11.057	0.47145	604	0.67577	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	0.026183	0.000000	0.012228	0.011696	0.000000	0.008621	0.024390	0.071970	0.07143	477.83	37	chr19	36720655	.	T	C	477.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.82;DP=231;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.19;ReadPosRankSum=0.132;SOR=0.704	GT:AD:DP:GQ:PL	0/1:32,20:52:99:488,0,805	6	0	1	0
chr19	36997444	36997444	C	T	exonic	ZNF568	.	nonsynonymous SNV	ZNF568:NM_001204839:exon9:c.C1561T:p.H521Y,ZNF568:NM_001204838:exon10:c.C1753T:p.H585Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.550	.	.	0.0091853	0.0027	0.0306	0.0016	0	0	0.0002	0	0	0.0021216	328	154602	rs61745621	0.0010	0.0010	0.0012	0.0009	0.0359	0.0010	0.0010	0.0342	0.0335	0.0359	0.0018	0	0	0	0.0033	3.712e-05	0.0029	0.0002	0.0093	0.0093	0.0097	0.0090	0.0325	0.0089	0.0088	0.0310	0.0305	0.0325	0	0.0035	0	0	0	0	8.823e-05	0.0047	0	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	0.988194	0.40720	D	.	.	.	-0.27	0.67367	T	-5.84	0.88431	D	0.549	0.57518	-0.0719	0.80737	T	0.246	0.61506	T	8	0.0083118975	0.00189	T	.	.	.	0.550	0.81369	.	.	0.80803835124	0.80623	.	.	.	.	.	.	.	.	.	.	-0.268698	0.11903	T	-0.135058	0.60543	T	0.0718216881913296	0.08904	T	0.819918	0.47811	T	.	.	.	.	.	.	.	.	-10.693	0.77947	D	.	.	0.591	0.69037	P	.;.	.;.	3.472615	0.48458	22.6	0.99727154537293117	0.82477	0.91205	0.53066	D	AEFBHCI	0.566207	0.57228	D	0.702144581438015	0.79772	7.14902	0.582871648925314	0.73714	6.015617	0.99790777475443	0.36174	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	3.8	3.8	0.42887	2.466000	0.44742	.	.	0.520000	0.23804	0.936000	0.32490	0.000000	0.08366	0.011000	0.09372	0.0:1.0:0.0:0.0	13.61	0.61539	662	0.61715	.;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	0.006736	0.005051	0.010870	0.006993	0.000000	0.000000	0.000000	0.003788	0.07143	1126.63	44	chr19	36997444	.	C	T	1126.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.459;DP=435;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.71;ReadPosRankSum=0.884;SOR=0.636	GT:AD:DP:GQ:PL	0/1:66,50:116:99:1137,0,1640	6	0	1	0
chr19	37186371	37186371	C	T	exonic	ZNF585B	.	nonsynonymous SNV	ZNF585B:NM_152279:exon5:c.G1166A:p.R389K	.	358	1161	3	0	0	3	0.00129032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	.	.	0.0113818	0.0028	0.0303	0.0010	0.0001	0	0.0001	0	0.0003	0.0026649	412	154602	rs112958950	0.0009	0.0009	0.0010	0.0007	0.0291	0.0008	0.0008	0.0276	0.0270	0.0291	0.0012	0	5.038e-05	1.872e-05	0.0028	7.104e-05	0.0018	0.0003	0.0078	0.0079	0.0082	0.0075	0.0274	0.0075	0.0073	0.0261	0.0255	0.0274	0	0.0020	0	0	0	0	0.0001	0.0062	0.0004	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.001214	0.39820	N	0.000000	1	0.81001	D	-0.385	0.03041	N	2.77	0.11407	T	2.68	0.00194	N	0.107	0.11054	-0.9497	0.41023	T	0.004	0.01159	T	10	0.0025695264	0.00039	T	.	.	.	0.035	0.08770	.	.	0.130388298395	0.12655	0.026753635890488656	0.02625	0.301449138178	0.32482	0.514855742455	0.40903	T	0.017921	0.14537	T	-0.690429	0.00042	T	-0.742217	0.03798	T	0.00102930978295012	0.00010	T	0.0376962	0.00261	T	0.048542056	0.08476	0.052093543	0.08514	0.048542056	0.08476	0.052093543	0.08514	0.294	0.00260	T	.	.	0.065	0.02038	B	.;.	.;.	1.396874	0.18105	13.55	0.37341747942745823	0.02455	0.03623	0.08862	N	AEFGBCI	0.051975	0.09233	N	-1.05986893306434	0.07395	0.3434153	-0.843721152194992	0.13438	0.6971309	0.00228101637099544	0.09286	0.562547	0.31514	0	0.588015	0.36545	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	2.89	2.89	0.32713	1.531000	0.35624	.	.	-0.223000	0.07921	0.875000	0.30889	0.004000	0.18990	0.890000	0.42831	0.0:0.1313:0.0:0.8687	6.372	0.20690	647	0.63344	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	0.005539	0.000000	0.009511	0.005848	0.000000	0.000000	0.000000	0.000000	0.07143	1946.44	35	chr19	37186371	.	C	T	1946.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.36;DP=350;ExcessHet=0;FS=1.302;MLEAC=1;MLEAF=0.071;MQ=52.27;MQRankSum=-4.653;QD=12.89;ReadPosRankSum=-1.721;SOR=0.566	GT:AD:DP:GQ:PL	0/1:81,70:151:99:1957,0,2192	6	0	1	0
chr19	37887093	37887093	A	G	exonic	WDR87	.	nonsynonymous SNV	WDR87:NM_001291088:exon6:c.T6578C:p.I2193T,WDR87:NM_031951:exon6:c.T6461C:p.I2154T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.0455139123668	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.853e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.178	0.22138	T	0.693	0.05882	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	-0.28	0.67543	T	-0.07	0.08033	N	0.067	0.03956	-0.9885	0.32978	T	0.121	0.42208	T	9	0.0735006	0.11114	T	0.045514	0.62018	D	0.030	0.07022	0.322	0.30226	0.0551355673512	0.04727	0.019455290587693495	0.01899	.	.	0.366222500801	0.20289	T	.	.	.	-0.271564	0.11583	T	-0.627859	0.10578	T	0.0769434833446011	0.09592	T	0.353365	0.07952	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.170	0.37293	B	.;.	.;.	-1.370848	0.00382	0.007	0.78222985595802419	0.12208	0.01418	0.04786	N	AEFGBI	0.030388	0.03052	N	-1.5918959215929	0.01305	0.05684392	-1.65151224496589	0.01368	0.06179205	0.00476714215870287	0.10704	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.6	-4.52	0.03227	-2.190000	0.01332	.	.	-0.612000	0.04583	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.3557:0.1261:0.5182:0.0	8.886	0.34564	646	0.63441	.;.	.	.	.	.	.	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	1280.76	60	chr19	37887093	.	A	G	1280.76	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-4.3;DP=548;ExcessHet=2.5225;FS=213.033;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=3.38;ReadPosRankSum=1.25;SOR=9.19	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:80,32:112:99:0|1:37887093_A_G:609,0,2842:37887093	3	0	4	0
chr19	37887095	37887095	C	T	exonic	WDR87	.	nonsynonymous SNV	WDR87:NM_001291088:exon6:c.G6576A:p.M2192I,WDR87:NM_031951:exon6:c.G6459A:p.M2153I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.0204136497208	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.31834	T	0.276	0.22016	T	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	1.1	0.39050	T	-0.48	0.15379	N	0.108	0.10483	-1.0375	0.18078	T	0.044	0.18948	T	9	0.05899042	0.07022	T	0.020414	0.42999	T	0.009	0.00846	0.39	0.41279	0.0920862733494	0.08535	0.029034270678991596	0.02852	.	.	0.393157303333	0.24114	T	.	.	.	-0.264741	0.12349	T	-0.618058	0.11338	T	0.0694930752056396	0.08580	T	0.381062	0.09207	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.444	0.64238	A	.;.	.;.	0.319938	0.06943	3.492	0.38647600985457964	0.02619	0.03920	0.09307	N	AEFGBI	0.049399	0.08530	N	-1.08419287681575	0.06934	0.320632	-1.08622430549721	0.07971	0.3899139	4.11720576999195E-4	0.06899	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.6	0.383	0.15462	0.602000	0.23833	.	.	0.589000	0.31548	0.070000	0.22072	0.000000	0.08366	0.013000	0.09966	0.3759:0.3632:0.0:0.2609	2.678	0.04771	646	0.63441	.;.	.	.	.	.	.	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	1980.43	59	chr19	37887095	.	C	T	1980.43	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-3.501;DP=540;ExcessHet=4.7409;FS=289.526;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.2;ReadPosRankSum=0.856;SOR=9.624	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:80,33:113:99:0|1:37887093_A_G:629,0,2839:37887093	1	0	5	1
chr19	37887096	37887096	A	G	exonic	WDR87	.	nonsynonymous SNV	WDR87:NM_001291088:exon6:c.T6575C:p.M2192T,WDR87:NM_031951:exon6:c.T6458C:p.M2153T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.0229314344301	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.173e-07	2.259e-05	1.416e-06	0	9.296e-07	0	0	.	.	0	0	0	0	0	0	9.296e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.54683	D	0.639	0.06992	T	0.213	0.30041	B	0.033	0.22329	B	.	.	.	.	1	0.08975	N	.	.	.	1.06	0.39781	T	-1.37	0.33998	N	0.241	0.27197	-1.0379	0.17954	T	0.045	0.19437	T	9	0.07963219	0.12831	T	0.022931	0.45860	T	0.034	0.08419	0.354	0.35408	0.132336055621	0.12781	0.09333230472886582	0.09265	.	.	0.44281449914	0.30962	T	.	.	.	-0.187347	0.22650	T	-0.506887	0.21634	T	0.185715109109879	0.19588	T	0.310469	0.06031	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.507	0.66846	A	.;.	.;.	1.675669	0.21359	15.17	0.2656475844503623	0.01278	0.05870	0.11817	N	AEFGBI	0.068161	0.13433	N	-0.937720259489842	0.09970	0.4742779	-0.936529822273914	0.11236	0.5712116	0.00186976402927546	0.08957	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.6	2.35	0.28166	3.208000	0.50816	.	.	0.743000	0.86499	0.302000	0.25342	0.056000	0.21938	0.017000	0.10941	0.637:0.1851:0.0:0.1778	5.276	0.14959	646	0.63441	.;.	.	.	.	.	.	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	1734.39	47	chr19	37887096	.	A	G	1734.39	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-3.754;DP=528;ExcessHet=2.5225;FS=289.601;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=4.26;ReadPosRankSum=1.08;SOR=9.25	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:80,32:112:99:0|1:37887093_A_G:622,0,2841:37887093	2	0	4	1
chr19	38478510	38478510	C	A	exonic	RYR1	.	nonsynonymous SNV	RYR1:NM_000540:exon31:c.C4530A:p.H1510Q,RYR1:NM_001042723:exon31:c.C4530A:p.H1510Q	Central core disease, Autosomal recessive, Autosomal dominant;King-Denborough syndrome, Autosomal dominant;Minicore myopathy with external ophthalmoplegia, Autosomal recessive;Neuromuscular disease, congenital, with uniform type 1 fiber, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.0231170071813	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.179	0.22224	T	.	.	.	0.043	0.24389	B	0.031	0.35854	B	0.001569	0.38612	U	0.171732	0.89342	0.27839	N	-1.61	0.00416	N	0.28	0.59037	T	-1.68	0.40082	N	0.172	0.20793	-1.0395	0.17465	T	0.084	0.32843	T	10	0.06795207	0.09541	T	0.023117	0.46062	T	0.067	0.19503	0.412	0.44887	0.548779645056	0.54534	0.3324350854780503	0.33156	0.340633307598	0.36003	0.563576340675	0.47772	T	0.447521	0.78976	T	-0.105806	0.35463	T	-0.389759	0.34580	T	0.273205995559692	0.23884	T	0.739226	0.35772	T	0.062785365	0.13153	0.080940254	0.18353	0.062785365	0.13152	0.080940254	0.18352	-7.608	0.58367	D	0.09651799042018416	0.06688	0.160	0.35414	B	.;.	.;.	1.596709	0.20419	14.74	0.96927432206076469	0.31644	0.32069	0.24494	N	AEFDBCI	0.217925	0.34299	N	-0.647611327033231	0.17530	0.9028348	-0.520157107255468	0.21607	1.169627	0.96412764784676	0.28738	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	4.5	3.46	0.38718	0.107000	0.15212	0.569000	0.19588	-0.284000	0.06380	0.040000	0.20979	0.951000	0.29025	0.811000	0.38219	0.0:0.5684:0.1903:0.2413	4.065	0.09333	760	0.50470	.;SPRY domain|B30.2/SPRY domain|SPRY domain|Ryanodine receptor, SPRY domain 3	.	.	.	.	.	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	1358.44	33	chr19	38478510	.	C	A	1358.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.39;DP=302;ExcessHet=0;FS=0.688;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.51;ReadPosRankSum=0.932;SOR=0.579	GT:AD:DP:GQ:PL	0/1:64,54:118:99:1369,0,1564	6	0	1	0
chr19	39425264	39425264	G	A	exonic	PLEKHG2	.	nonsynonymous SNV	PLEKHG2:NM_001351693:exon20:c.G3599A:p.R1200K	Leukodystrophy and acquired microcephaly with or without dystonia, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	741871	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.021	0.165035638058	0.0020	0.00259585	0.0016	0.0075	0.0010	0	0.0002	0.0015	0	0.0005	0.0014424	223	154602	rs31729	0.0010	0.0010	0.0009	0.0010	0.0053	0.0009	0.0009	0.0046	0.0044	0.0053	0.0012	0.0040	0	0.0002	0.0007	0.0008	0.0014	0.0007	0.0026	0.0026	0.0027	0.0024	0.0063	0.0024	0.0023	0.0057	0.0055	0.0063	0	0.0017	0.0037	0	9.411e-05	0	0.0012	0.0038	0	0.0	0.91255	D	0.117	0.36365	T	0.147	0.27870	B	0.035	0.22741	B	.	.	.	.	1	0.81001	D	.	.	.	-0.29	0.67712	T	0.05	0.06369	N	0.352	0.39356	-0.9754	0.36037	T	0.153	0.48309	T	7	0.0074777305	0.00170	T	0.165036	0.84400	D	0.021	0.04004	.	.	0.566047931302	0.56269	.	.	.	.	.	.	.	0.007	0.06517	T	-0.235026	0.15989	T	-0.106509	0.62888	T	0.0537906340563461	0.06154	T	0.29617	0.05481	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.150	0.33063	B	.;.	.;.	0.272418	0.06499	2.979	0.97234753091660608	0.32965	0.73078	0.35751	D	AEFDBHCI	0.155825	0.28108	N	-0.121579449224525	0.36453	2.107327	-6.93178607005032e-05	0.39715	2.358926	0.99998775611433	0.51787	0.67177	0.52595	0	0.643519	0.57511	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.23	3.08	0.34576	0.420000	0.20983	.	.	-0.103000	0.15852	0.999000	0.42656	1.000000	0.68203	0.571000	0.30675	0.1852:0.0:0.8148:0.0	8.524	0.32454	693	0.58582	.;.	.	.	.	.	.	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	0.002717	0.000000	0.000000	0.008621	0.000000	0.000000	0.07143	1048.49	37	chr19	39425264	.	G	A	1048.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.998;DP=268;ExcessHet=0;FS=0.907;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.36;ReadPosRankSum=-1.959;SOR=0.896	GT:AD:DP:GQ:PL	0/1:31,42:73:99:1059,0,679	6	0	1	0
chr19	40616985	40616985	C	G	exonic	LTBP4	.	nonsynonymous SNV	LTBP4:NM_001042545:exon20:c.C2909G:p.P970R,LTBP4:NM_001042544:exon23:c.C3110G:p.P1037R,LTBP4:NM_003573:exon23:c.C2999G:p.P1000R	Cutis laxa, autosomal recessive, type IC, Autosomal recessive	0	1519	3	0	0	3	0.000986518	.	.	.	333581	LTBP4-related_disorder|not_provided|Cutis_laxa_with_severe_pulmonary,_gastrointestinal_and_urinary_anomalies	.|MedGen:C3661900|MONDO:MONDO:0013170,MedGen:C2750804,OMIM:613177,Orphanet:221145	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.447	0.170212400137	0.0014	0.000798722	0.0010	0.0020	0.0004	0	0.0002	0.0013	0.0022	0.0002	0.0009314	144	154602	rs200667255	0.0007	0.0007	0.0007	0.0007	0.0037	0.0007	0.0007	0.0031	0.0029	0.0037	0.0004	0.0221	0	7.491e-05	0.0023	0.0002	0.0021	0.0001	0.0013	0.0013	0.0012	0.0014	0.0022	0.0011	0.0011	0.0018	0.0017	0.0022	0	0.0007	0.0184	0	0.0004	0.0034	0.0004	0.0009	0.0002	0.16	0.26300	T	0.094	0.45318	T	1.0	0.90584	D	0.999	0.92359	D	0.001257	0.39669	N	0.000000	0.84458	0.81001	D	1.8	0.47472	L	-2.94	0.91851	D	-3.37	0.66665	D	0.736	0.76481	0.539	0.91089	D	0.808	0.93518	D	10	0.013317108	0.00283	T	0.170212	0.84782	D	0.447	0.74866	.	.	0.572442375005	0.56910	0.5289677841246028	0.52820	1.12242539896	0.78328	0.548874855042	0.45698	T	0.209983	0.85845	T	-0.210548	0.19303	T	-0.0816903	0.64779	T	0.0215077348182344	0.00854	T	0.665133	0.27420	T	0.2329617	0.46093	0.22365041	0.47251	0.20287381	0.42346	0.24895047	0.50455	-9.59	0.72650	D	.	.	0.138	0.30791	B	.;.;.	.;.;.	4.338118	0.66532	25.0	0.9981892826203792	0.90238	0.95975	0.66970	D	AEFDBI	0.618662	0.60439	D	0.364638425247273	0.59517	4.131733	0.377704692512233	0.60191	4.204188	0.99999994990409	0.74766	0.706298	0.61202	0	0.80507	0.99744	0	0.643519	0.47002	0	0.613276	0.41899	0	.	.	4.63	4.63	0.57175	3.710000	0.54589	.	.	0.599000	0.40250	0.941000	0.32681	1.000000	0.68203	0.979000	0.57723	0.0:1.0:0.0:0.0	16.404	0.83489	749	0.51929	EGF-like calcium-binding domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like calcium-binding domain|EGF-like 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	0.003525	0.015152	0.008152	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	1551.44	34	chr19	40616985	.	C	G	1551.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-3.15;DP=305;ExcessHet=0;FS=0.701;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.15;ReadPosRankSum=0.666;SOR=0.608	GT:AD:DP:GQ:PL	0/1:53,65:118:99:1562,0,1422	6	0	1	0
chr19	40801359	40801359	G	A	exonic	EGLN2	.	nonsynonymous SNV	EGLN2:NM_053046:exon2:c.G787A:p.V263I,EGLN2:NM_080732:exon2:c.G787A:p.V263I	.	.	.	.	.	.	.	.	.	.	.	1816610	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.210	0.0779714671182	.	.	8.611e-06	0	0	0	0	1.582e-05	0	0	6.5e-06	1	154602	rs754101570	5.484e-06	1.026e-05	6.822e-06	4.133e-06	2.987e-05	2.36e-06	1.71e-06	1.94e-06	1.28e-06	2.987e-05	0	0	0	0	0	5.396e-06	0	1.159e-05	1.314e-05	1.313e-05	1.284e-05	1.344e-05	0.0004	2.18e-06	8.2e-07	7.279e-05	3.025e-05	0	0	0	0	0	0	0	0	0	0.0004	0.102	0.30235	T	0.395	0.15255	T	0.253	0.31246	B	0.041	0.23986	B	0.000978	0.40836	D	0.154806	0.997462	0.43910	D	0.55	0.14455	N	-1.98	0.85247	D	0.53	0.02808	N	0.276	0.31253	-0.5573	0.66507	T	0.334	0.70125	T	10	0.18038607	0.33219	T	0.077971	0.72896	D	0.210	0.50028	0.477	0.55502	0.83705614445	0.83550	0.5985398214111658	0.59784	0.585375640592	0.54180	0.677970647812	0.63977	T	0.253789	0.62435	T	-0.0679758	0.41650	T	-0.335419	0.40863	T	0.190951332449913	0.19900	T	0.653935	0.26417	T	0.09940674	0.23459	0.11548619	0.27879	0.09940674	0.23459	0.11548619	0.27878	-7.591	0.58248	D	.	.	0.102	0.27762	B	.;.;.;.	.;.;.;.	3.399898	0.47116	22.4	0.98566583245501427	0.43051	0.87449	0.46992	D	AEFDBHCI	0.411357	0.48186	N	-0.369293187767447	0.26569	1.451039	-0.269938525561987	0.29094	1.627293	0.999999800392268	0.74766	0.722319	0.85440	0	0.672317	0.65289	0	0.698795	0.65105	0	0.657601	0.63696	0	.	.	4.16	4.16	0.48138	2.668000	0.46481	.	.	0.618000	0.50648	0.997000	0.40164	1.000000	0.68203	0.678000	0.33484	0.0:0.1726:0.8274:0.0	12.274	0.54039	508	0.75398	Prolyl 4-hydroxylase, alpha subunit;Prolyl 4-hydroxylase, alpha subunit;Prolyl 4-hydroxylase, alpha subunit;Oxoglutarate/iron-dependent dioxygenase	.	.	.	.	.	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	876.44	36	chr19	40801359	.	G	A	876.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.79;DP=248;ExcessHet=0;FS=6.14;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.11;ReadPosRankSum=0.382;SOR=1.663	GT:AD:DP:GQ:PL	0/1:28,30:58:99:887,0,646	6	0	1	0
chr19	41201309	41201309	A	G	exonic	CYP2S1	.	nonsynonymous SNV	CYP2S1:NM_030622:exon6:c.A913G:p.M305V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.0055276443132	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	6.572e-06	6.567e-06	0	1.346e-05	6.555e-05	0	0	.	.	0	0	6.555e-05	0	0	0	0	0	0	0	0.034	0.44029	D	0.022	0.57587	D	0.0	0.02946	B	0.0	0.01387	B	0.162165	0.17629	N	0.517280	1	0.08975	N	-0.465	0.02725	N	5.11	0.78645	T	-0.52	0.16187	N	0.107	0.09207	-0.9034	0.47628	T	0.003	0.00864	T	10	0.3974025	0.55325	T	0.005528	0.14258	T	0.126	0.34673	0.677	0.81496	0.313518423057	0.30959	0.5668155306311461	0.56609	0.296135135414	0.31998	0.279010355473	0.07355	T	0.004166	0.04462	T	-0.408768	0.02025	T	-0.824943	0.01355	T	0.301468372344971	0.25065	T	0.376562	0.08996	T	0.10153626	0.23985	0.10325039	0.24768	0.10153626	0.23985	0.10325039	0.24767	0.794	0.00161	T	.	.	0.067	0.17700	B	.;.	.;.	0.557099	0.09254	6.039	0.88700589652053352	0.18185	0.01756	0.05527	N	AEFBI	0.035019	0.04437	N	-0.799241940734061	0.13330	0.6559036	-0.703898606901277	0.16863	0.8940831	0.00386370903301077	0.10312	0.67177	0.52595	0	0.627178	0.54094	0	0.702456	0.68683	0	0.655142	0.61905	0	.	.	5.2	0.539	0.16348	3.395000	0.52301	2.191000	0.31208	-0.127000	0.13314	1.000000	0.71638	0.011000	0.20116	0.043000	0.14563	0.2485:0.0:0.7515:0.0	10.165	0.42053	603	0.67726	.;.	.	.	.	.	.	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	1899.83	33	chr19	41201309	.	A	G	1899.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.558;DP=338;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.47;ReadPosRankSum=0.452;SOR=0.71	GT:AD:DP:GQ:PL	0/1:61,80:141:99:1910,0,1505	6	0	1	0
chr19	41238557	41238557	A	C	exonic	AXL	.	nonsynonymous SNV	AXL:NM_001278599:exon5:c.A278C:p.Q93P,AXL:NM_001699:exon8:c.A1082C:p.Q361P,AXL:NM_021913:exon8:c.A1082C:p.Q361P	.	418	1099	5	0	0	5	0.00226963	.	.	.	2103433	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.723	0.0787851697069	0.0016	0.000599042	0.0016	0.0002	0.0006	0	0.0011	0.0024	0.0012	0.0008	0.0016623	257	154602	rs141929169	0.0022	0.0022	0.0023	0.0022	0.0027	0.0022	0.0022	0.0026	0.0026	0.0004	0.0004	0	0	0.0005	0.0026	0.0027	0.0017	0.0009	0.0015	0.0015	0.0015	0.0014	0.0027	0.0013	0.0012	0.0024	0.0022	0.0006	0	0.0001	0	0	0.0009	0.0034	0.0027	0.0005	0.0004	0.005	0.63226	D	0.05	0.48336	T	0.958	0.54977	D	0.744	0.55835	P	0.000896	0.41231	D	0.158496	0.784801	0.34312	D	2.25	0.63811	M	0.62	0.53302	T	-2.58	0.55662	D	0.824	0.81957	-0.6775	0.61488	T	0.123	0.42610	T	10	0.034747273	0.01694	T	0.078785	0.73084	D	0.723	0.90235	.	.	0.375737878683	0.37188	0.7722976252154031	0.77179	0.897822466154	0.70527	0.417935490608	0.27553	T	0.352414	0.71985	T	-0.346995	0.04918	T	-0.272367	0.47581	T	0.0450294477624199	0.04608	T	0.751425	0.38363	T	0.22808468	0.45521	0.36817202	0.62112	0.22808468	0.45521	0.36817202	0.62112	-9.752	0.73618	D	.	.	0.115	0.32827	B	.;.;.	.;.;.	4.312322	0.65933	24.9	0.9949787424050367	0.67859	0.85884	0.45070	D	AEFBI	0.538202	0.55569	D	0.296143700718182	0.55952	3.759438	0.296729277890973	0.55348	3.697969	0.999885096137743	0.44867	0.67177	0.52595	0	0.547309	0.14657	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	4.36	4.36	0.51643	2.163000	0.42004	9.081000	0.78717	0.677000	0.82338	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	1.0:0.0:0.0:0.0	11.153	0.47699	538	0.73119	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	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.006135	0.003788	0.07143	590.53	36	chr19	41238557	.	A	C	590.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.672;DP=236;ExcessHet=0;FS=1.007;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.36;ReadPosRankSum=-1.014;SOR=0.906	GT:AD:DP:GQ:PL	0/1:28,29:57:99:601,0,625	6	0	1	0
chr19	41422298	41422298	A	G	exonic	BCKDHA	.	nonsynonymous SNV	BCKDHA:NM_000709:exon6:c.A781G:p.I261V,BCKDHA:NM_001164783:exon6:c.A781G:p.I261V	Maple syrup urine disease, type Ia, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.398	0.0979027524118	.	.	.	.	.	.	.	.	.	.	.	.	.	rs897602354	2.052e-06	2.052e-06	4.084e-06	0	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	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.2	0.20381	T	0.246	0.24913	T	0.023	0.18885	B	0.05	0.25278	B	0.000116	0.50451	D	0.156037	0.999989	0.54805	D	1.22	0.30592	L	-4.09	0.96627	D	-0.95	0.25332	N	0.352	0.44379	0.377	0.88756	D	0.766	0.92044	D	10	0.33253923	0.50458	T	0.097903	0.76853	D	0.398	0.71242	0.508	0.60386	0.76601394661	0.76387	0.6178827678997076	0.61721	0.682462068016	0.61773	0.581635475159	0.50315	T	0.347143	0.71530	T	0.175401	0.71620	D	0.0141744	0.71253	D	0.373085290193558	0.27916	T	0.933007	0.74900	D	0.13221586	0.30793	0.15411972	0.36185	0.13221586	0.30793	0.15411972	0.36184	-5.595	0.42746	T	0.2039806143541252	0.27173	0.108	0.32226	B	.;.;.;.	.;.;.;.	3.309365	0.45468	22.1	0.99297682250116914	0.58505	0.94756	0.62222	D	AEFGBI	0.750430	0.69155	D	-0.109407570563642	0.36982	2.145184	0.0597922256371928	0.42547	2.575369	0.999999982170536	0.74766	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.711	0.71501	0	.	.	4.91	4.91	0.63897	3.209000	0.50824	9.149000	0.78942	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.8286:0.1714:0.0:0.0	9.902	0.40520	856	0.34373	.;Dehydrogenase, E1 component;Dehydrogenase, E1 component;.	.	.	.	.	.	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	1485.46	36	chr19	41422298	.	A	G	1485.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.38;DP=325;ExcessHet=0;FS=0.612;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.24;ReadPosRankSum=0.684;SOR=0.616	GT:AD:DP:GQ:PL	0/1:73,72:145:99:1496,0,1773	6	0	1	0
chr19	41837277	41837277	G	A	exonic	LYPD4	.	nonsynonymous SNV	LYPD4:NM_001291419:exon5:c.C502T:p.H168Y,LYPD4:NM_173506:exon5:c.C607T:p.H203Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	.	0.0079	0.00599042	0.0019	0.0214	0.0007	0	0	4.496e-05	0.0022	0	0.0018628	288	154602	rs34537433	0.0006	0.0006	0.0007	0.0006	0.0215	0.0006	0.0006	0.0202	0.0197	0.0215	0.0011	0	2.519e-05	0	0.0012	2.698e-05	0.0013	6.956e-05	0.0060	0.0060	0.0062	0.0059	0.0215	0.0057	0.0056	0.0204	0.0199	0.0215	0	0.0010	0	0	0	0	1.47e-05	0.0043	0	0.012	0.54683	D	0.041	0.50514	D	0.358	0.35101	B	0.06	0.27215	B	0.605831	0.05673	N	1.231680	1	0.08975	N	0.805	0.20218	L	-0.42	0.69536	T	-1.58	0.38151	N	0.217	0.24260	-0.9626	0.38684	T	0.071	0.28969	T	10	0.0030061007	0.00049	T	.	.	.	0.085	0.24743	.	.	0.222439326576	0.21863	0.3113542619823079	0.31048	.	.	0.332318335772	0.15285	T	0.005851	0.05296	T	-0.536998	0.00349	T	-0.527217	0.19565	T	0.00550446276595301	0.00060	T	0.726827	0.34112	T	0.047673464	0.08188	0.107079946	0.25773	0.047673464	0.08187	0.107079946	0.25772	-4.524	0.33489	T	.	.	0.102	0.19679	B	.;.;.	.;.;.	2.488736	0.32106	18.94	0.9849343615684979	0.42120	0.05968	0.11927	N	AEFDGBI	0.045781	0.07526	N	-0.551198336106179	0.20447	1.077888	-0.582771957398362	0.19943	1.072237	0.0362339768400728	0.14236	0.603402	0.35316	0	0.563428	0.19063	0	0.547309	0.15389	0	0.663205	0.64265	0	.	.	4.26	2.11	0.26299	1.020000	0.29629	4.120000	0.41968	0.676000	0.76740	0.062000	0.21832	1.000000	0.68203	0.857000	0.40602	0.1035:0.0:0.6966:0.2	5.315	0.15158	744	0.52588	.;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	0.001011	0.005051	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	661.83	25	chr19	41837277	.	G	A	661.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.72;DP=204;ExcessHet=0;FS=2.212;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.22;ReadPosRankSum=1.41;SOR=0.426	GT:AD:DP:GQ:PL	0/1:30,29:59:99:672,0,758	6	0	1	0
chr19	41838919	41838919	T	G	exonic	LYPD4	.	nonsynonymous SNV	LYPD4:NM_173506:exon3:c.A173C:p.Q58P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	.	0.0078	0.00599042	0.0019	0.0215	0.0007	0	0	4.496e-05	0.0022	0	0.0018628	288	154602	rs112654847	0.0006	0.0006	0.0007	0.0006	0.0215	0.0006	0.0006	0.0202	0.0197	0.0215	0.0011	0	0	0	0.0012	2.698e-05	0.0013	6.956e-05	0.0060	0.0060	0.0062	0.0058	0.0214	0.0057	0.0056	0.0202	0.0198	0.0214	0	0.0010	0	0	0	0	1.471e-05	0.0043	0	.	.	.	0.284	0.21411	T	0.0	0.02946	B	0.0	0.01387	B	0.403615	0.04549	N	1.432480	1	0.08975	N	0.345	0.11182	N	.	.	.	.	.	.	0.343	0.38438	-0.9230	0.45141	T	0.003	0.00961	T	10	0.0040008426	0.00077	T	.	.	.	.	.	.	.	0.0138822411134	0.00435	0.5182895174362366	0.51751	.	.	0.242473870516	0.03017	T	0.003905	0.03313	T	-0.681531	0.00047	T	-0.734829	0.04112	T	0.000778292453893203	0.00007	T	0.249675	0.03740	T	0.09345117	0.21950	0.106226414	0.25550	0.09345117	0.21950	0.106226414	0.25549	-4.576	0.31869	T	.	.	0.081	0.08465	B	.	.	-0.030556	0.04076	0.952	0.74602257548543272	0.10757	0.01049	0.03910	N	AEFBI	0.050835	0.08923	N	-1.60051521131034	0.01261	0.05490749	-1.61785341348867	0.01550	0.07025785	0.25055041702809	0.18675	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	3.97	-4.77	0.02985	-1.207000	0.03118	-3.680000	0.02610	-0.920000	0.02202	0.002000	0.15269	0.000000	0.08366	0.692000	0.33898	0.0:0.2181:0.2964:0.4855	5.092	0.14046	754	0.51307	.	.	.	.	.	.	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	1288.49	33	chr19	41838919	.	T	G	1288.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.097;DP=421;ExcessHet=0;FS=2.701;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.12;ReadPosRankSum=-0.545;SOR=0.935	GT:AD:DP:GQ:PL	0/1:114,67:181:99:1299,0,2607	6	0	1	0
chr19	42225031	42225031	G	A	exonic	ZNF526	.	nonsynonymous SNV	ZNF526:NM_001314033:exon3:c.G628A:p.E210K,ZNF526:NM_133444:exon3:c.G628A:p.E210K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.140	0.00379068814862	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.84e-07	6.84e-07	0	1.375e-06	1.159e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.231	0.18246	T	0.004	0.74150	D	0.999	0.77913	D	0.94	0.67560	D	0.000001	0.62929	D	0.000000	0.997448	0.43893	D	2.045	0.56016	M	1.65	0.27650	T	-0.83	0.22727	N	0.269	0.30461	-0.9629	0.38625	T	0.139	0.45697	T	10	0.19311449	0.35067	T	0.003791	0.08837	T	0.140	0.37593	0.342	0.33464	0.398727352345	0.39489	0.2642282534640418	0.26335	1.09148213951	0.77447	0.678910255432	0.64111	T	0.013423	0.11615	T	-0.111363	0.34542	T	-0.397742	0.33646	T	0.775411822728243	0.44768	D	0.851615	0.53551	D	0.27614763	0.50677	0.2615007	0.51928	0.27614763	0.50677	0.2615007	0.51927	-9.402	0.70248	D	0.18243310999850765	0.23570	0.518	0.65395	A	.	.	4.572424	0.72161	25.8	0.99924265320389249	0.98980	0.53712	0.29438	D	AEFBCI	0.202669	0.32924	N	0.327069220426997	0.57542	3.921896	0.268168055692457	0.53689	3.536712	0.999998532847852	0.74766	0.706548	0.73137	0	0.577304	0.33150	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	4.52	4.52	0.54797	0.535000	0.22822	9.881000	0.82199	0.672000	0.70159	0.017000	0.19353	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	16.539	0.84227	779	0.47767	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	1382.63	34	chr19	42225031	.	G	A	1382.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.534;DP=286;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.11;ReadPosRankSum=-0.546;SOR=0.77	GT:AD:DP:GQ:PL	0/1:42,56:98:99:1393,0,993	6	0	1	0
chr19	42309804	42309804	C	T	exonic	PRR19	.	nonsynonymous SNV	PRR19:NM_199285:exon2:c.C220T:p.R74W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.00773099046008	0.0008	0.000798722	0.0002	0.0022	0.0003	0	0	0	0	0	0.000207	32	154602	rs141255938	8.21e-05	8.345e-05	8.577e-05	7.839e-05	0.0016	7.002e-05	6.553e-05	0.0012	0.0011	0.0016	0.0001	0	0	0	0	3.597e-05	0.0003	4.638e-05	0.0006	0.0006	0.0007	0.0006	0.0021	0.0005	0.0005	0.0018	0.0016	0.0021	0	6.533e-05	0	0	0	0	8.818e-05	0.0009	0	0.153	0.24372	T	0.0	0.92824	D	0.045	0.24389	B	0.016	0.21540	B	0.024656	0.26225	N	0.185068	0.681002	0.33234	D	0.945	0.23706	L	.	.	.	-5.1	0.83027	D	0.28	0.31702	-0.9701	0.37179	T	0.070	0.28675	T	9	0.01498729	0.00315	T	0.007731	0.20510	T	0.033	0.08068	.	.	0.208000267992	0.20380	0.25162073370253846	0.25076	0.168707716758	0.19022	0.301112532616	0.10566	T	0.156171	0.49823	T	-0.421712	0.01668	T	-0.384704	0.35171	T	0.0642688067598074	0.07823	T	0.786121	0.43772	T	0.21285978	0.43650	0.23788248	0.49097	0.21285978	0.43650	0.23788248	0.49096	-4.784	0.36004	T	.	.	0.110	0.21163	B	.;.;.;.	.;.;.;.	2.370842	0.30420	18.43	0.99426254532181468	0.64032	0.59400	0.30905	D	AEFDBI	0.409549	0.48078	N	-0.285478514119907	0.29708	1.649919	-0.164256154643064	0.32864	1.873957	0.00477232843198404	0.10707	0.695654	0.57023	0	0.588066	0.40923	0	0.723109	0.80598	0	0.567892	0.33627	0	.	.	4.73	2.51	0.29435	0.877000	0.27756	-0.061000	0.12424	0.587000	0.30956	0.998000	0.41325	0.127000	0.22962	0.998000	0.85391	0.2097:0.6687:0.0:0.1216	4.688	0.12146	599	0.68140	.;.;.;.	.	.	.	.	.	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	769.83	35	chr19	42309804	.	C	T	769.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.7;DP=240;ExcessHet=0;FS=0.997;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.05;ReadPosRankSum=1.1;SOR=0.922	GT:AD:DP:GQ:PL	0/1:32,27:59:99:780,0,793	6	0	1	0
chr19	42877933	42877933	C	T	exonic	PSG1	.	nonsynonymous SNV	PSG1:NM_001184825:exon2:c.G410A:p.R137H,PSG1:NM_001184826:exon2:c.G410A:p.R137H,PSG1:NM_001297773:exon2:c.G410A:p.R137H,PSG1:NM_001330524:exon2:c.G410A:p.R137H,PSG1:NM_006905:exon2:c.G410A:p.R137H	.	.	.	.	.	.	.	.	.	.	.	2264219	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.052	0.000698424535413	0.0002	0.000399361	0.0002	0.0010	0.0002	0	0	0.0002	0	0	0.0001811	28	154602	rs1071707	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0.0003	0.0003	0	2.522e-05	0.0001	0	0.0002	0.0003	0	0.0003	0.0003	0.0003	0.0002	0.0005	0.0002	0.0002	0.0003	0.0003	0.0005	0	0	0	0	0.0002	0	0.0003	0.0005	0	1.0	0.02201	T	0.848	0.04754	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	-1.34	0.00672	N	1.16	0.38236	T	2.62	0.00307	N	0.062	0.03392	-0.9951	0.31272	T	0.018	0.07706	T	9	0.00978896	0.00220	T	6.98E-4	0.00435	T	0.052	0.14661	.	.	0.0551355673512	0.04727	0.1033479367809265	0.10264	0.00845000762128	0.00769	.	.	.	0.001199	0.07080	T	-0.633119	0.00091	T	-0.789724	0.02172	T	0.0056332338649254	0.00061	T	0.405359	0.19863	T	0.016475776	0.00200	0.031521987	0.01753	0.016475776	0.00200	0.031521987	0.01753	-4.083	0.26330	T	.	.	0.052	0.01738	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	-0.487801	0.01906	0.159	0.37251085307060555	0.02443	0.00016	0.00195	N	AEFDBI	0.019833	0.00725	N	-2.05724434995227	0.00159	0.006799176	-2.04759736059559	0.00242	0.01067205	0.500769157944132	0.20940	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.64	-2.73	0.05599	-1.080000	0.03517	-3.365000	0.02843	-1.473000	0.01069	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.0:0.5304:0.0:0.4696	6.215	0.19860	588	0.69043	Immunoglobulin subtype;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	1	0	.	.	.	.	.	.	.	.	0.07143	5376.44	34	chr19	42877933	.	C	T	5376.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.83;DP=618;ExcessHet=0;FS=0.528;MLEAC=1;MLEAF=0.071;MQ=59.92;MQRankSum=-1.356;QD=12.96;ReadPosRankSum=0.414;SOR=0.602	GT:AD:DP:GQ:PL	0/1:199,216:415:99:5387,0,4708	6	0	1	0
chr19	42878009	42878009	C	T	exonic	PSG1	.	nonsynonymous SNV	PSG1:NM_001184825:exon2:c.G334A:p.V112I,PSG1:NM_001184826:exon2:c.G334A:p.V112I,PSG1:NM_001297773:exon2:c.G334A:p.V112I,PSG1:NM_001330524:exon2:c.G334A:p.V112I,PSG1:NM_006905:exon2:c.G334A:p.V112I	.	.	.	.	.	.	.	.	.	.	.	2369597	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.136	0.00267242511716	7.7e-05	0.000199681	2.473e-05	0.0003	0	0	0	0	0	0	2.59e-05	4	154602	rs372748159	6.161e-06	6.159e-06	8.173e-06	4.128e-06	0.0001	2.9e-06	2.1e-06	5.852e-05	3.759e-05	0.0001	2.237e-05	0	0	0	0	8.998e-07	3.315e-05	0	5.273e-05	5.253e-05	6.446e-05	4.046e-05	0.0002	2.564e-05	1.835e-05	9.589e-05	6.979e-05	0.0002	0	0	0	0	0	0	0	0	0	0.114	0.28646	T	0.232	0.26145	T	0.457	0.44016	P	0.551	0.58175	P	.	.	.	.	1	0.08975	N	2.26	0.64354	M	-0.23	0.66652	T	-0.69	0.21003	N	0.094	0.15749	-0.6631	0.62139	T	0.417	0.76326	T	9	0.054879338	0.05912	T	0.002672	0.05463	T	0.136	0.36778	.	.	0.212008924253	0.20833	0.058057731095929495	0.05746	0.0240959767246	0.02450	.	.	.	0.003451	0.22566	T	-0.462203	0.00952	T	-0.595723	0.13174	T	0.116899430751801	0.14123	T	0.720928	0.33779	T	0.031001639	0.02862	0.030770835	0.01576	0.031001639	0.02862	0.030770835	0.01576	-6.698	0.51825	T	.	.	0.099	0.23848	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.894564	0.12684	9.205	0.98560154748288176	0.42961	0.00270	0.01469	N	AEFDBI	0.026348	0.01964	N	-0.65926609801227	0.17190	0.8824904	-0.933944736803814	0.11297	0.5746328	0.995876695885725	0.34380	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.64	-0.709	0.10671	-1.104000	0.03436	-3.851000	0.02495	0.368000	0.20244	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.5924:0.0:0.4076	4.142	0.09665	588	0.69043	Immunoglobulin V-set domain|Immunoglobulin subtype;Immunoglobulin V-set domain|Immunoglobulin subtype;.;Immunoglobulin V-set domain|Immunoglobulin subtype;.;.;Immunoglobulin V-set 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	6640.44	34	chr19	42878009	.	C	T	6640.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.143;DP=766;ExcessHet=0;FS=1.1;MLEAC=1;MLEAF=0.071;MQ=58.67;MQRankSum=-0.27;QD=12.21;ReadPosRankSum=-0.566;SOR=0.668	GT:AD:DP:GQ:PL	0/1:266,278:544:99:6651,0,6625	6	0	1	0
chr19	43195067	43195067	C	T	exonic	PSG4	.	nonsynonymous SNV	PSG4:NM_001276495:exon3:c.G637A:p.G213R,PSG4:NM_001316339:exon3:c.G550A:p.G184R,PSG4:NM_002780:exon4:c.G916A:p.G306R	.	15	1506	0	1	0	2	0.00066357	.	.	.	2375630	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.062	0.000393950769073	0.0006	0.000199681	0.0005	9.626e-05	0.0005	0	0	0.0008	0.0011	0	0.0004398	68	154602	rs182372417	0.0006	0.0006	0.0006	0.0006	0.0009	0.0006	0.0005	0.0007	0.0006	5.987e-05	0.0009	3.844e-05	0	0	0.0004	0.0007	0.0004	1.16e-05	0.0004	0.0004	0.0004	0.0004	0.0007	0.0003	0.0003	0.0006	0.0005	2.429e-05	0	0.0004	0	0	0	0	0.0007	0.0010	0	0.0	0.91255	D	0.043	0.65728	D	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	0.999995	0.27148	N	3.215	0.89331	M	1.94	0.22678	T	-4.76	0.90254	D	0.445	0.58629	-1.0186	0.24171	T	0.153	0.48343	T	9	0.051755846	0.05106	T	3.94E-4	0.00065	T	0.062	0.17934	0.908	0.98109	0.1749357433	0.17121	0.4377517844299892	0.43692	0.0250491307488	0.02552	0.403490364552	0.25554	T	0.051657	0.34447	T	-0.350194	0.04715	T	-0.352511	0.38916	T	0.161374536540025	0.17972	T	0.974203	0.90777	D	0.41476464	0.61741	0.352587	0.60834	0.41476464	0.61742	0.352587	0.60833	-6.438	0.49806	T	.	.	0.438	0.75369	A	.;.;.	.;.;.	2.082058	0.26480	17.13	0.99380357290297627	0.61847	0.01753	0.05519	N	AEFI	0.064530	0.12535	N	-0.128272119516253	0.36164	2.086732	-0.476256576475183	0.22810	1.240751	3.08458017946517E-6	0.01202	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	0.737000	0.25812	.	.	0.282000	0.18639	0.008000	0.17931	0.024000	0.20971	0.004000	0.06068	0.0:1.0:0.0:0.0	6.272	0.20167	814	0.42100	Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;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	0	0	0	1	0	0	0	0.000583	0.000000	0.000000	0.000000	0.000000	0.000000	0.003546	0.000000	0.07143	5620.44	34	chr19	43195067	.	C	T	5620.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=5.46;DP=585;ExcessHet=0;FS=3.883;MLEAC=1;MLEAF=0.071;MQ=59.51;MQRankSum=-0.522;QD=14.19;ReadPosRankSum=-1.046;SOR=0.898	GT:AD:DP:GQ:PL	0/1:193,203:396:99:5631,0,4531	6	0	1	0
chr19	43964980	43964980	G	C	exonic	ZNF221	.	nonsynonymous SNV	ZNF221:NM_001297588:exon3:c.G112C:p.V38L,ZNF221:NM_001297589:exon3:c.G112C:p.V38L,ZNF221:NM_013359:exon4:c.G112C:p.V38L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.00202905500591	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1161988523	6.84e-07	6.84e-07	0	1.375e-06	2.987e-05	0	0	.	.	2.987e-05	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.134	0.26300	T	0.06	0.45744	T	0.888	0.48822	P	0.519	0.48163	P	.	.	.	.	0.999096	0.21630	N	0.73	0.18813	N	4.69	0.01694	T	-1.88	0.43906	N	0.307	0.34767	-0.8824	0.49569	T	0.007	0.02518	T	9	0.23870546	0.40996	T	0.002029	0.03695	T	0.107	0.30369	0.556	0.67409	0.1749357433	0.17121	.	.	0.139508168454	0.15724	0.337125271559	0.16007	T	0.008706	0.07977	T	-0.295474	0.09093	T	-0.662205	0.08118	T	0.31433221834018	0.25591	T	0.0317968	0.00203	T	0.16507111	0.36756	0.38541082	0.63459	0.16507111	0.36755	0.38541082	0.63459	-10.137	0.74728	D	.	.	0.225	0.45653	B	.;.;.;.;.	.;.;.;.;.	1.979880	0.25155	16.66	0.98449629577762265	0.41609	0.81753	0.41094	D	AEFBI	0.152237	0.27688	N	-0.241544946444952	0.31443	1.76308	-0.346465722500569	0.26618	1.471476	1.46880859610302E-4	0.05573	0.554377	0.28877	0	0.588066	0.40923	0	0.463624	0.06942	0	0.491896	0.07777	0	.	.	2.64	1.57	0.22490	0.541000	0.22915	.	.	0.596000	0.33519	0.652000	0.28189	0.000000	0.08366	0.792000	0.37394	0.1438:0.0:0.8562:0.0	6.913	0.23528	656	0.62345	.;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box	.	.	.	.	.	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	3917.44	39	chr19	43964980	.	G	C	3917.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.27;DP=549;ExcessHet=0;FS=5.612;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.52;ReadPosRankSum=-1.475;SOR=0.894	GT:AD:DP:GQ:PL	0/1:190,150:340:99:3928,0,4857	6	0	1	0
chr19	44118527	44118527	A	G	exonic	ZNF225	.	nonsynonymous SNV	ZNF225:NM_013362:exon4:c.A188G:p.E63G,ZNF225:NM_001321685:exon5:c.A188G:p.E63G	.	420	1101	1	0	0	1	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	.	0.0071	0.00599042	0.0022	0.0240	0.0011	0	0	7.497e-05	0.0011	6.058e-05	0.002044	316	154602	rs76696522	0.0007	0.0007	0.0008	0.0006	0.0239	0.0007	0.0007	0.0226	0.0220	0.0239	0.0014	0	0	0	0.0017	5.038e-05	0.0019	8.116e-05	0.0068	0.0068	0.0072	0.0064	0.0235	0.0064	0.0063	0.0223	0.0218	0.0235	0	0.0020	0	0	0	0	0.0001	0.0066	0	0.004	0.65419	D	0.039	0.51112	D	0.999	0.77913	D	0.996	0.84481	D	.	.	.	.	1	0.08975	N	1.84	0.48285	L	5.83	0.09262	T	-2.96	0.61722	D	0.205	0.25377	-1.0320	0.19809	T	0.018	0.07282	T	9	0.0038171709	0.00072	T	.	.	.	0.059	0.16972	.	.	0.42264334713	0.41881	0.027729299911179582	0.02722	0.530994264149	0.50620	0.259045958519	0.04778	T	0.039913	0.43997	T	-0.65463	0.00068	T	-0.695521	0.06074	T	0.0342224221478556	0.02675	T	0.627137	0.30091	T	0.10570637	0.24994	0.18456875	0.41516	0.10570637	0.24994	0.18456875	0.41516	-6.13	0.47354	T	.	.	0.086	0.14477	B	.;.;.;.	.;.;.;.	1.645061	0.20990	15.00	0.99685128764959274	0.79507	0.01224	0.04337	N	AEFBI	0.024168	0.01454	N	-0.525784218315564	0.21249	1.126293	-0.82492629176948	0.13892	0.7230818	6.56007692790729E-5	0.04366	0.562547	0.31514	0	0.546412	0.12157	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	1.93	-0.541	0.11265	0.439000	0.21293	.	.	0.727000	0.85467	0.000000	0.06391	0.000000	0.08366	0.620000	0.31896	0.4526:0.5474:0.0:0.0	6.128	0.19411	600	0.68026	Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box	.	.	.	.	.	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	0.005051	0.004076	0.000000	0.000000	0.008621	0.000000	0.000000	0.07143	4401.44	33	chr19	44118527	.	A	G	4401.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.69;DP=587;ExcessHet=0;FS=5.11;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.31;ReadPosRankSum=-0.173;SOR=0.924	GT:AD:DP:GQ:PL	0/1:209,180:389:99:4412,0,5100	6	0	1	0
chr19	44176131	44176131	G	A	exonic	ZNF226	.	nonsynonymous SNV	ZNF226:NM_001032372:exon6:c.G869A:p.C290Y,ZNF226:NM_001032373:exon6:c.G869A:p.C290Y,ZNF226:NM_001319088:exon6:c.G869A:p.C290Y,ZNF226:NM_001319090:exon6:c.G869A:p.C290Y,ZNF226:NM_001319089:exon7:c.G869A:p.C290Y,ZNF226:NM_016444:exon7:c.G869A:p.C290Y	.	.	.	.	.	.	.	.	.	.	.	2395197	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.005	0.00209313907997	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1461750949	8.893e-06	8.893e-06	1.089e-05	6.875e-06	0.0005	4.96e-06	3.82e-06	0.0001	7.541e-05	0.0001	0	0	0	0	0.0005	0	8.279e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.33923	T	0.038	0.51421	D	0.411	0.35101	B	0.081	0.28987	B	0.843530	0.07014	N	1.110420	1	0.08975	N	0.095	0.08423	N	2.5	0.14408	T	-2.76	0.58569	D	0.087	0.06454	-0.9602	0.39143	T	0.014	0.05417	T	10	0.053093225	0.05447	T	0.002093	0.03855	T	0.005	0.00259	0.352	0.35084	0.0986583533028	0.09354	0.019865653643665614	0.01939	0.0241015122764	0.02450	0.229722321033	0.01947	T	0.036281	0.24042	T	-0.499496	0.00575	T	-0.77374	0.02647	T	0.105773029422308	0.12980	T	0.355164	0.08047	T	0.085861824	0.19934	0.15087374	0.35565	0.085861824	0.19934	0.15087374	0.35564	-4.828	0.34916	T	.	.	0.085	0.10256	B	.;.;.	.;.;.	-0.301758	0.02610	0.325	0.29536059051893265	0.01571	0.08646	0.14546	N	AEFDBCIJ	0.051886	0.09209	N	-1.37856086087353	0.02839	0.1259721	-1.47049707779536	0.02589	0.1193532	0.0905453909134378	0.16112	0.562547	0.31514	0	0.577304	0.33150	0	0.608884	0.39905	0	0.491896	0.07777	0	.	.	4.28	-4.34	0.03412	-3.579000	0.00474	.	.	-0.244000	0.07312	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.5072:0.1458:0.347:0.0	5.732	0.17311	906	0.23090	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	0.000504	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.07143	2247.44	34	chr19	44176131	.	G	A	2247.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.971;DP=394;ExcessHet=0;FS=3.239;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.47;ReadPosRankSum=0.891;SOR=0.504	GT:AD:DP:GQ:PL	0/1:106,90:196:99:2258,0,2873	6	0	1	0
chr19	44328758	44328758	G	A	exonic	ZNF112	.	nonsynonymous SNV	ZNF112:NM_001348284:exon3:c.C1216T:p.R406C,ZNF112:NM_001348282:exon4:c.C1399T:p.R467C,ZNF112:NM_001348283:exon4:c.C1399T:p.R467C,ZNF112:NM_013380:exon4:c.C1399T:p.R467C,ZNF112:NM_001083335:exon5:c.C1417T:p.R473C,ZNF112:NM_001348281:exon5:c.C1468T:p.R490C,ZNF112:NM_001348285:exon5:c.C1216T:p.R406C	.	.	.	.	.	.	.	.	.	.	.	2395196	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.197	0.00248661202505	.	0.000199681	2.473e-05	0	0	0	0	4.497e-05	0	0	3.23e-05	5	154602	rs202199443	2.873e-05	2.873e-05	2.859e-05	2.888e-05	0.0005	2.152e-05	1.908e-05	0.0001	7.541e-05	0.0002	0	0	0	0	0.0005	2.338e-05	6.623e-05	3.478e-05	3.942e-05	3.938e-05	3.857e-05	4.031e-05	7.224e-05	1.715e-05	1.129e-05	1.915e-05	1.031e-05	7.224e-05	0	0	0	0	0	0	4.411e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.959946	0.07711	N	1.027060	1	0.08975	N	-3.505	0.00003	N	6.46	0.00533	T	6.59	0.00005	N	0.141	0.14054	-0.8839	0.49448	T	0.000	0.00075	T	10	0.013904721	0.00294	T	0.002487	0.04953	T	0.197	0.47942	.	.	0.287603790349	0.28378	0.1263753373111609	0.12563	0.159976732857	0.18046	0.18585434556	0.00160	T	0.012153	0.10734	T	-0.418289	0.01754	T	-0.635965	0.09967	T	0.024364249772928	0.01191	T	0.80302	0.45479	T	0.07432035	0.16670	0.034881625	0.02636	0.07432035	0.16669	0.034881625	0.02635	0.277	0.00264	T	.	.	0.092	0.13456	B	.;.	.;.	1.331008	0.17365	13.12	0.042958150858927915	0.00003	0.01524	0.05024	N	AEFGBI	0.053218	0.09570	N	-1.58552403176169	0.01338	0.05830743	-1.40125619382197	0.03240	0.1507208	0.026176777520816	0.13696	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.635551	0.53088	0	.	.	4.73	0.312	0.15082	1.244000	0.32381	.	.	0.676000	0.76740	0.002000	0.15269	0.000000	0.08366	0.703000	0.34233	0.5532:0.0:0.4468:0.0	6.739	0.22617	917	0.20147	.;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	0.000504	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.07143	2245.44	99	chr19	44328758	.	G	A	2245.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.34;DP=800;ExcessHet=0;FS=1.959;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.03;ReadPosRankSum=-1.393;SOR=0.549	GT:AD:DP:GQ:PL	0/1:78,82:160:99:2256,0,1867	6	0	1	0
chr19	44329859	44329859	G	A	exonic	ZNF112	.	nonsynonymous SNV	ZNF112:NM_001348284:exon3:c.C115T:p.R39C,ZNF112:NM_001348282:exon4:c.C298T:p.R100C,ZNF112:NM_001348283:exon4:c.C298T:p.R100C,ZNF112:NM_013380:exon4:c.C298T:p.R100C,ZNF112:NM_001083335:exon5:c.C316T:p.R106C,ZNF112:NM_001348281:exon5:c.C367T:p.R123C,ZNF112:NM_001348285:exon5:c.C115T:p.R39C	.	.	.	.	.	.	.	.	.	.	.	2339120	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.022	0.00174059504728	0.0002	.	4.984e-05	0	0	0	0	9.063e-05	0	0	4.53e-05	7	154602	rs147070415	0.0001	0.0001	0.0001	9.765e-05	0.0003	9.537e-05	9.017e-05	0.0001	0.0001	0.0002	0	0	2.519e-05	0	0.0003	0.0001	9.936e-05	1.159e-05	8.545e-05	8.538e-05	0.0001	5.381e-05	0.0001	4.959e-05	3.964e-05	6.285e-05	4.301e-05	0.0001	0	6.547e-05	0	0	0	0	8.82e-05	0	0	0.275	0.16251	T	0.284	0.49120	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.548523	0.32113	D	0.48	0.13178	N	3.45	0.13317	T	1.56	0.00948	N	0.079	0.06059	-0.9764	0.35816	T	0.007	0.02598	T	9	0.042027295	0.02912	T	0.001741	0.02934	T	0.022	0.04323	.	.	0.0611884634855	0.05136	0.04809952425758081	0.04752	0.158179034989	0.17867	0.180913925171	0.00102	T	0.004656	0.04060	T	-0.472426	0.00821	T	-0.718066	0.04890	T	0.0505770464206622	0.05600	T	0.172883	0.17968	T	0.06745246	0.14609	0.037352443	0.03370	0.06745246	0.14609	0.037352443	0.03370	-4.087	0.27556	T	.	.	0.176	0.38426	B	.;.;.;.;.;.	.;.;.;.;.;.	1.323802	0.17281	13.07	0.57939747365462579	0.05880	0.00256	0.01406	N	AEFBI	0.018064	0.00519	N	-1.48527056852431	0.01953	0.08576811	-1.45641195784389	0.02713	0.125273	0.00313404209830165	0.09948	0.651	0.46895	0	0.573888	0.26702	0	0.653264	0.51672	0	0.683762	0.67416	0	.	.	3.53	-1.29	0.08805	-0.341000	0.07858	.	.	-0.672000	0.04293	0.000000	0.06391	0.000000	0.08366	0.878000	0.41950	0.5048:0.3074:0.1878:0.0	4.689	0.12151	917	0.20147	.;.;.;.;.;.	.	.	.	.	.	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	0.001009	0.005051	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.07143	910.45	37	chr19	44329859	.	G	A	910.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.68;DP=320;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.13;ReadPosRankSum=0.51;SOR=0.693	GT:AD:DP:GQ:PL	0/1:72,40:112:99:921,0,1632	6	0	1	0
chr19	45396904	45396904	G	T	exonic	PPP1R13L	.	nonsynonymous SNV	PPP1R13L:NM_001142502:exon4:c.C353A:p.P118Q,PPP1R13L:NM_006663:exon4:c.C353A:p.P118Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.333	0.665962929755	.	.	1.166e-05	0	0	0	0	1.968e-05	0	0	6.5e-06	1	154602	rs371538363	2.943e-06	1.3e-05	1.46e-06	4.45e-06	0.0002	6.9e-07	4.7e-07	7.5e-07	2.1e-07	0	0	0	0	0	0.0002	2.804e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.017	0.60337	D	1.0	0.90584	D	0.999	0.92359	D	0.000975	0.40836	D	0.248880	0.99955	0.47544	D	2.19	0.61577	M	-1.29	0.79475	T	-1.91	0.44471	N	0.374	0.42443	0.084	0.83871	D	0.510	0.81604	D	10	0.42145133	0.56891	T	0.665963	0.97204	D	0.333	0.65522	0.209	0.12639	0.878426385898	0.87723	0.2991906377456949	0.29832	1.24717905375	0.81710	0.812979102135	0.83949	D	0.184878	0.53767	T	0.0461773	0.57850	T	-0.171446	0.57311	T	0.805433452129364	0.46727	D	0.527847	0.35895	T	0.11775796	0.27755	0.16915698	0.38929	0.11775796	0.27755	0.16915698	0.38928	-6.608	0.51115	T	.	.	0.363	0.69070	A	.;.;.	.;.;.	3.748783	0.53721	23.4	0.98688919070118986	0.44723	0.92372	0.55559	D	AEFDBI	0.367170	0.45472	N	0.318244524830892	0.57086	3.87463	0.27236804444542	0.53931	3.559924	0.999999658520013	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.619478	0.44681	0	0.635551	0.53088	0	.	.	5.02	5.02	0.66742	3.030000	0.49407	9.656000	0.81182	0.649000	0.52879	0.929000	0.32243	1.000000	0.68203	0.425000	0.27339	0.0:0.0:1.0:0.0	14.190	0.65170	837	0.37933	.;.;.	.	.	.	.	.	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	999.44	41	chr19	45396904	.	G	T	999.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.337;DP=286;ExcessHet=0;FS=0.765;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.1;ReadPosRankSum=0.323;SOR=0.557	GT:AD:DP:GQ:PL	0/1:54,45:99:99:1010,0,1247	6	0	1	0
chr19	46624182	46624182	A	G	exonic	PTGIR	.	nonsynonymous SNV	PTGIR:NM_000960:exon2:c.T44C:p.V15A	.	415	1102	5	0	0	5	0.00226347	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	.	0.0020	0.00219649	0.0151	0.0028	0	0.0087	0.1	0.0099	0	0.0256	0.0022833	353	154602	rs200213497	0.0064	0.0062	0.0062	0.0067	0.0117	0.0063	0.0063	0.0111	0.0108	0.0007	0.0012	0.0009	0.0001	0.0040	0.0025	0.0069	0.0048	0.0117	0.0042	0.0042	0.0045	0.0040	0.0116	0.0040	0.0039	0.0092	0.0083	0.0014	0	0.0014	0.0017	0.0006	0.0022	0	0.0069	0.0033	0.0116	0.746	0.03631	T	1.0	0.01155	T	0.176	0.28893	B	0.041	0.23986	B	0.000349	0.45440	D	0.139105	1	0.08975	N	0.2	0.09183	N	3.05	0.08721	T	0.5	0.02945	N	0.161	0.16864	-0.9488	0.41177	T	0.012	0.04558	T	10	0.0036742091	0.00067	T	.	.	.	0.083	0.24192	.	.	0.286848849266	0.28300	0.2825736262160615	0.28170	0.209316482217	0.23399	0.664229989052	0.62014	T	0.153645	0.49458	T	-0.547137	0.00304	T	-0.547024	0.17612	T	0.0041909399493735	0.00045	T	0.524848	0.17228	T	0.05219638	0.09698	0.066777565	0.13724	0.05219638	0.09698	0.066777565	0.13724	-0.871	0.00867	T	.	.	0.078	0.11317	B	.;.	.;.	1.641539	0.20951	14.98	0.8406781971316204	0.15078	0.11004	0.16342	N	AEFDGBCI	.	.	.	-0.535002104525339	0.20955	1.108606	-0.412098750142697	0.24642	1.35055	0.999988408478833	0.51787	0.542737	0.22433	0	0.685571	0.66316	0	0.578056	0.29568	0	0.567892	0.33627	0	.	.	4.57	3.5	0.39181	0.621000	0.24112	6.407000	0.55588	0.587000	0.30956	0.000000	0.06391	1.000000	0.68203	0.982000	0.59238	0.6766:0.3234:0.0:0.0	8.342	0.31413	929	0.16858	.;.	.	.	.	.	.	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	0.004242	0.000000	0.005571	0.009375	0.000000	0.018519	0.006803	0.003906	0.07143	670.49	22	chr19	46624182	.	A	G	670.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.51;DP=188;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.27;ReadPosRankSum=0.078;SOR=0.85	GT:AD:DP:GQ:PL	0/1:17,30:47:99:681,0,433	6	0	1	0
chr19	48099738	48099738	G	A	exonic	PLA2G4C	.	nonsynonymous SNV	PLA2G4C:NM_001159322:exon5:c.C410T:p.A137V,PLA2G4C:NM_001159323:exon5:c.C380T:p.A127V,PLA2G4C:NM_003706:exon5:c.C380T:p.A127V	.	417	1100	4	1	0	6	0.00271985	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.0099631597752	0.0016	0.000599042	0.0018	0.0005	0.0019	0	0.0002	0.0027	0.0033	0.0009	0.0018693	289	154602	rs11564532	0.0019	0.0019	0.0019	0.0019	0.0022	0.0019	0.0019	0.0021	0.0021	0.0002	0.0022	0.0028	0	0.0006	0.0016	0.0022	0.0016	0.0007	0.0019	0.0019	0.0021	0.0018	0.0031	0.0017	0.0017	0.0028	0.0027	0.0004	0	0.0029	0.0029	0	0.0003	0	0.0031	0.0014	0.0006	0.315	0.13789	T	0.019	0.59159	D	0.997	0.70673	D	0.856	0.61001	P	0.226384	0.03489	U	1.862780	1	0.08975	N	2.36	0.67893	M	3.68	0.04151	T	-2.35	0.51968	N	0.109	0.09914	-1.0513	0.14036	T	0.043	0.18659	T	10	0.0060230196	0.00135	T	0.009963	0.25923	T	0.065	0.18881	.	.	0.280181792013	0.27631	0.32531433143569394	0.32444	0.463405145247	0.45849	0.426995038986	0.28798	T	0.003431	0.02839	T	-0.604325	0.00137	T	-0.643583	0.09410	T	0.0271252566033526	0.01562	T	0.574243	0.20591	T	0.21788834	0.44282	0.2834914	0.54342	0.21788834	0.44282	0.2834914	0.54341	-8.258	0.63831	D	.	.	0.371	0.70852	A	.;.;.	.;.;.	2.698264	0.35241	19.85	0.99849821432138841	0.92925	0.06077	0.12050	N	AEFBI	0.048232	0.08209	N	-0.123316204986333	0.36378	2.101981	-0.323948811774715	0.27327	1.515581	7.63816172512243E-4	0.07776	0.706298	0.61202	0	0.633656	0.55848	0	0.618467	0.43123	0	0.613276	0.41899	0	.	.	3.17	3.17	0.35510	0.857000	0.27486	3.448000	0.38427	0.435000	0.21004	0.002000	0.15269	0.143000	0.23109	0.588000	0.31090	0.0:0.0:1.0:0.0	10.143	0.41919	819	0.41190	.;.;Lysophospholipase, catalytic domain|Lysophospholipase, catalytic domain|Lysophospholipase, 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	0.002014	0.005051	0.001359	0.000000	0.000000	0.000000	0.006098	0.000000	0.07143	951.63	35	chr19	48099738	.	G	A	951.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.467;DP=287;ExcessHet=0;FS=0.756;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.33;ReadPosRankSum=-0.593;SOR=0.854	GT:AD:DP:GQ:PL	0/1:59,43:102:99:962,0,1355	6	0	1	0
chr19	48703267	48703267	C	T	exonic	FUT2	.	nonsynonymous SNV	FUT2:NM_000511:exon2:c.C311T:p.A104V,FUT2:NM_001097638:exon2:c.C311T:p.A104V	.	419	1054	48	1	0	50	0.0231696	.	.	.	984434	Familial_Otitis_Media	.	no_assertion_criteria_provided	confers_sensitivity	.	.	.	.	.	.	.	.	0.779	.	0.0006	0.00319489	0.0039	0.0002	0.0015	0.0001	0	0.0014	0.0080	0.0210	0.0032923	509	154602	rs149356814	0.0019	0.0019	0.0013	0.0025	0.0206	0.0019	0.0018	0.0198	0.0195	0.0001	0.0010	0.0028	7.557e-05	1.892e-05	0.0116	0.0006	0.0025	0.0206	0.0013	0.0013	0.0012	0.0014	0.0194	0.0012	0.0011	0.0162	0.0150	9.624e-05	0	0.0011	0.0037	0	0	0.0102	0.0010	0.0019	0.0194	0.039	0.42487	D	0.019	0.59159	D	0.999	0.77913	D	0.982	0.75477	D	.	.	.	.	0.941004	0.37318	D	2.965	0.85198	M	-4.16	0.96826	D	-3.22	0.64939	D	0.558	0.81360	1.135	0.99931	D	0.939	0.97982	D	9	0.01712045	0.00364	T	.	.	.	0.779	0.92623	.	.	0.982550369732	0.98236	0.44415395212301567	0.44333	0.733435026441	0.62845	0.430974453688	0.29342	T	0.131596	0.46118	T	0.0547111	0.58947	T	0.265279	0.86341	D	0.0505083253708795	0.05590	T	0.894311	0.63332	D	0.28840944	0.51844	0.36057407	0.61497	0.36899018	0.58511	0.33836746	0.59615	-8.024	0.61234	D	.	.	0.322	0.54638	B	.;.;.	.;.;.	3.915589	0.57135	23.8	0.99915014806242197	0.98309	0.97369	0.74314	D	AEFGBI	0.579516	0.58029	D	0.583976673298565	0.72176	5.764432	0.441392951124102	0.64165	4.665643	0.532866957730309	0.21190	0.660377	0.49826	0	0.588066	0.40923	0	0.696353	0.63694	0	0.622129	0.49086	0	.	.	4.19	4.19	0.48645	4.729000	0.61702	4.155000	0.42174	0.589000	0.31548	0.994000	0.38300	0.999000	0.35428	0.091000	0.17840	0.0:1.0:0.0:0.0	14.405	0.66645	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	0.007560	0.000000	0.006793	0.000000	0.000000	0.008621	0.015244	0.011364	0.07143	1199.63	47	chr19	48703267	.	C	T	1199.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.38;DP=352;ExcessHet=0;FS=3.371;MLEAC=1;MLEAF=0.071;MQ=52.43;MQRankSum=-0.131;QD=10.17;ReadPosRankSum=0.49;SOR=0.449	GT:AD:DP:GQ:PL	0/1:65,53:118:99:1210,0,1640	6	0	1	0
chr19	49182889	49182889	G	A	exonic	TRPM4	.	stopgain	TRPM4:NM_001321285:exon6:c.G513A:p.W171X,TRPM4:NM_001321281:exon9:c.G1230A:p.W410X,TRPM4:NM_001321283:exon9:c.G1053A:p.W351X,TRPM4:NM_001195227:exon11:c.G1575A:p.W525X,TRPM4:NM_017636:exon11:c.G1575A:p.W525X	Progressive familial heart block, type IB, Autosomal dominant	0	1513	9	0	0	9	0.0029654	.	.	.	243380	not_provided|Sudden_cardiac_death|Cardiovascular_phenotype|Progressive_familial_heart_block_type_IB|not_specified	MedGen:C3661900|EFO:EFO_0004278,Human_Phenotype_Ontology:HP:0001645,Human_Phenotype_Ontology:HP:0005161,MeSH:D016757,MedGen:C0085298|MedGen:CN230736|MONDO:MONDO:0011474,MedGen:C1970298,OMIM:604559,Orphanet:871|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0007	0.000399361	0.0016	0.0004	0.0006	0	0.0065	0.0019	0	0.0008	0.0013195	204	154602	rs71352737	0.0018	0.0018	0.0018	0.0018	0.0054	0.0017	0.0017	0.0039	0.0034	0.0004	0.0002	0	0	0.0051	0.0054	0.0020	0.0012	0.0005	0.0016	0.0016	0.0015	0.0018	0.0022	0.0015	0.0014	0.0020	0.0018	0.0003	0	0.0005	0.0003	0	0.0066	0	0.0022	0.0009	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.601	0.62442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.163103	0.26282	T	-0.0132297	0.69474	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.	High;.	5.633348	0.92690	32	0.97466819956511719	0.34115	0.07213	0.13237	N	AEFDBI	0.048137	0.08182	N	0.0531138847885988	0.44286	2.705398	-0.37024840436156	0.25888	1.426515	6.99465648457758E-4	0.07645	0.700653	0.57754	0	0.547309	0.14657	0	0.717052	0.78885	0	0.635551	0.53088	0	.	.	3.44	-0.786	0.10394	0.670000	0.24838	0.612000	0.20040	0.657000	0.54293	0.010000	0.18352	0.031000	0.21272	0.001000	0.02609	0.1435:0.4387:0.4178:0.0	4.739	0.12378	723	0.55174	.;.	.	.	.	.	.	Uncertain significance	1	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	0.002530	0.000000	0.001359	0.005917	0.000000	0.000000	0.006098	0.000000	0.08333	218.27	10	chr19	49182889	.	G	A	218.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.616;DP=79;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.13;ReadPosRankSum=-0.432;SOR=0.693	GT:AD:DP:GQ:PL	0/1:9,9:18:99:228,0,282	5	0	1	1
chr19	49652713	49652713	G	A	exonic	SCAF1	.	nonsynonymous SNV	SCAF1:NM_021228:exon7:c.G2324A:p.G775E	.	265	1247	10	0	0	10	0.00399361	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.0303033595875	0.0007	0.000998403	0.0031	0.0007	0.0022	0	0.0039	0.0031	0.0065	0.0045	0.0009508	147	154602	rs182682442	0.0010	0.0010	0.0009	0.0011	0.0030	0.0009	0.0009	0.0027	0.0025	0.0005	0.0006	7.802e-05	2.619e-05	0.0010	0.0028	0.0009	0.0010	0.0030	0.0010	0.0010	0.0010	0.0010	0.0031	0.0009	0.0008	0.0019	0.0015	0.0002	0.0175	0.0011	0	0	0.0009	0	0.0013	0.0014	0.0031	0.017	0.51248	D	0.489	0.11586	T	0.005	0.12996	B	0.004	0.10090	B	0.209092	0.16409	N	0.445392	1	0.08975	N	0	0.06538	N	1.64	0.27822	T	-1.08	0.28084	N	0.254	0.28732	-1.0202	0.23649	T	0.016	0.06425	T	9	0.00406155	0.00079	T	0.030303	0.52646	D	0.039	0.10176	.	.	0.043077524339	0.03247	0.05533791047632273	0.05474	0.820147628991	0.67127	0.750120520592	0.74464	T	0.023764	0.18084	T	-0.560982	0.00250	T	-0.581953	0.14371	T	0.00361394179660227	0.00038	T	0.49875	0.15541	T	0.0573767	0.11411	0.06755219	0.13991	0.0573767	0.11411	0.06755219	0.13990	-4.766	0.34192	T	.	.	0.334	0.55508	B	.	.	2.210627	0.28203	17.72	0.96242393558321571	0.29154	0.24372	0.22373	N	AEFDGBI	0.071491	0.14234	N	-1.08199010070539	0.06975	0.3226574	-1.04895430595164	0.08729	0.4305904	0.889282149890082	0.25809	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	3.03	-3.07	0.05038	0.208000	0.17212	2.016000	0.30187	-0.148000	0.12190	0.006000	0.17386	1.000000	0.68203	0.974000	0.55675	0.0982:0.2786:0.341:0.2822	2.432	0.04200	783	0.47268	.	.	.	.	.	.	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	0.005061	0.000000	0.009537	0.000000	0.000000	0.000000	0.006135	0.007634	0.07143	1219.53	34	chr19	49652713	.	G	A	1219.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.853;DP=251;ExcessHet=0;FS=0.885;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=16.05;ReadPosRankSum=1.88;SOR=0.58	GT:AD:DP:GQ:PL	0/1:29,47:76:99:1230,0,804	6	0	1	0
chr19	51025655	51025655	C	T	exonic	KLK11	.	nonsynonymous SNV	KLK11:NM_144947:exon2:c.G73A:p.A25T	.	414	1104	4	0	0	4	0.00180832	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.355	0.0665316227731	.	0.000199681	2.319e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs532923427	2.039e-05	2.121e-05	2.372e-05	1.701e-05	0.0004	1.431e-05	1.237e-05	6.354e-05	2.618e-05	0	7.545e-05	0	0	0	0.0004	1.282e-05	6.817e-05	7.456e-05	1.971e-05	1.969e-05	1.285e-05	2.689e-05	0.0002	5.24e-06	2.45e-06	.	.	0	0	6.547e-05	0	0	0	0	1.471e-05	0	0.0002	.	.	.	0.123	0.35582	T	0.941	0.52883	P	0.515	0.48040	P	.	.	.	.	1	0.81001	D	0	0.06538	N	-2.39	0.88377	D	.	.	.	0.321	0.36148	-0.2083	0.77458	T	0.479	0.80083	T	9	0.14162919	0.26908	T	0.066532	0.69903	D	.	.	0.227	0.15257	0.95838133631	0.95793	0.2884719117580755	0.28760	0.104341344547	0.11803	.	.	.	0.001138	0.00643	T	-0.199121	0.20931	T	-0.264121	0.48413	T	0.27492104778577	0.23957	T	0.49705	0.15447	T	0.064230874	0.13606	0.10046698	0.24021	0.064230874	0.13606	0.10046698	0.24020	-4.081	0.25009	T	.	.	0.077	0.06295	B	.	.	1.788194	0.22733	15.74	0.99826227231318987	0.90852	0.48826	0.28295	N	AEFDBI	0.193818	0.32093	N	0.0516718683346007	0.44219	2.700007	0.00549491207800148	0.39970	2.378037	0.174748289729785	0.17788	0.495158	0.18159	0	0.59043	0.45803	0	0.535252	0.11790	0	0.613276	0.41899	0	.	.	2.67	1.6	0.22686	0.871000	0.27675	1.016000	0.23368	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.968000	0.53726	0.0:0.7294:0.2706:0.0	7.424	0.26260	929	0.16858	.	.	.	.	.	.	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	1025.53	36	chr19	51025655	.	C	T	1025.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.629;DP=248;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.24;ReadPosRankSum=-0.052;SOR=0.681	GT:AD:DP:GQ:PL	0/1:28,44:72:99:1036,0,651	6	0	1	0
chr19	54337451	54337451	C	G	exonic	LILRA4	.	nonsynonymous SNV	LILRA4:NM_012276:exon5:c.G901C:p.V301L	.	5	1472	44	1	0	46	0.0153846	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	.	0.0059	0.00579073	0.0073	0.0054	0.0109	0.0017	0.0062	0.0078	0.0102	0.0072	0.0070956	1097	154602	rs55828618	0.0069	0.0069	0.0069	0.0069	0.0110	0.0068	0.0067	0.0094	0.0091	0.0052	0.0102	0.0098	0.0033	0.0042	0.0110	0.0069	0.0070	0.0078	0.0070	0.0070	0.0070	0.0070	0.0095	0.0066	0.0065	0.0083	0.0078	0.0058	0	0.0095	0.0110	0.0035	0.0041	0.0136	0.0076	0.0081	0.0087	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	0.049233	0.01996	N	2.525700	1	0.08975	N	.	.	.	2.69	0.12268	T	2.14	0.00347	N	0.128	0.12198	-0.9678	0.37652	T	0.007	0.02439	T	10	0.004746586	0.00100	T	.	.	.	0.015	0.02232	.	.	0.0297737177859	0.01360	0.1017683440438472	0.10107	0.0744562594757	0.08353	0.28287139535	0.07896	T	.	.	.	-0.766824	0.00014	T	-0.861293	0.00829	T	0.000877321905358312	0.00008	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.09675	B	.	.	-2.234250	0.00059	0.001	0.49159573139768742	0.04162	0.00073	0.00509	N	AEFBI	0.014917	0.00258	N	-1.9615160619044	0.00255	0.01095738	-1.9304477807845	0.00426	0.01883179	1.40922730603188E-5	0.02871	0.554377	0.28877	0	0.588066	0.40923	0	0.48864	0.07692	0	0.613276	0.41899	0	.	.	2.51	-1.26	0.08892	-2.418000	0.01111	.	.	-3.628000	0.00070	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.225:0.3668:0.4082	4.786	0.12593	994	0.00715	.	.	.	.	.	.	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	0.007996	0.010101	0.009511	0.004098	0.000000	0.008621	0.012422	0.000000	0.07143	998.83	35	chr19	54337451	.	C	G	998.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.06;DP=306;ExcessHet=0;FS=3.123;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.97;ReadPosRankSum=0.036;SOR=0.416	GT:AD:DP:GQ:PL	0/1:40,37:77:99:1009,0,997	6	0	1	0
chr19	54667735	54667735	G	A	exonic	LILRB4	.	nonsynonymous SNV	LILRB4:NM_001278429:exon10:c.G1232A:p.G411E,LILRB4:NM_001278426:exon11:c.G1142A:p.G381E,LILRB4:NM_001278427:exon11:c.G1139A:p.G380E,LILRB4:NM_001278428:exon11:c.G1142A:p.G381E	.	42	1368	112	0	0	112	0.0393258	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	.	.	0.00938498	0.0029	0.0131	0.0016	0.0003	0.0008	0.0027	0	0.0008	0.0018057	47	26028	rs143761941	0.0002	0.0077	0.0002	0.0002	0.0019	0.0002	0.0002	0.0015	0.0014	0.0019	6.756e-05	3.887e-05	0	0.0019	0.0005	7.91e-05	6.767e-05	9.397e-05	0.0011	0.0063	0.0009	0.0013	0.0023	0.0009	0.0009	0.0019	0.0018	0.0023	0	0.0007	0.0006	0	0.0008	0	0.0006	0.0020	0.0006	0.817	0.08534	T	0.485	0.14284	T	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	7.22	0.00450	T	-1.14	0.33197	N	0.082	0.06587	-1.0309	0.20163	T	0.001	0.00222	T	9	0.0048834085	0.00104	T	.	.	.	0.017	0.02790	.	.	0.0611884634855	0.05136	0.025520150562575675	0.02503	0.0146181732997	0.01385	0.27307882905	0.06546	T	0.024122	0.18284	T	-0.312001	0.07572	T	-0.685945	0.06627	T	0.00416992427023374	0.00044	T	0.40156	0.13085	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.02548	B	.;.;.;.	.;.;.;.	-1.426860	0.00341	0.006	0.34032084928210377	0.02060	0.00201	0.01154	N	AEFBI	0.057374	0.10682	N	-1.73416465629474	0.00727	0.0314143	-1.78646037534142	0.00803	0.03586342	6.83957052779704E-4	0.07622	0.706298	0.61202	0	0.709663	0.81188	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.36	-2.07	0.06873	-2.169000	0.01355	.	.	-2.327000	0.00315	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2899:0.0:0.7101:0.0	7.181	0.24951	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	0.005637	0.025641	0.001370	0.000000	0.000000	0.008621	0.010135	0.012000	0.1429	335.29	52	chr19	54667735	.	G	A	335.29	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-1.766;DP=421;ExcessHet=0.3476;FS=0.919;MLEAC=2;MLEAF=0.143;MQ=54.81;MQRankSum=-3.419;QD=2.04;ReadPosRankSum=0.579;SOR=0.734	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:63,10:73:99:0|1:54667733_T_C:230,0,2563:54667733	5	0	2	0
chr19	55081335	55081335	G	A	exonic	EPS8L1	.	nonsynonymous SNV	EPS8L1:NM_017729:exon3:c.G236A:p.G79D,EPS8L1:NM_133180:exon8:c.G617A:p.G206D	.	420	1097	5	0	0	5	0.00227376	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.011265719925	.	.	0.0005	0	0	0	0	0	0	0.0012	0.00011	17	154602	rs748912216	7.475e-05	7.593e-05	4.085e-05	0.0001	0.0009	6.293e-05	5.823e-05	0.0007	0.0007	3.067e-05	0	0	0	0	0.0009	2.205e-05	8.547e-05	0.0009	5.907e-05	5.905e-05	3.853e-05	8.054e-05	0.0008	3.074e-05	2.208e-05	0.0003	0.0002	0	0	0	0	0	0	0	7.349e-05	0	0.0008	0.615	0.30235	T	0.083	0.41405	T	0.089	0.30614	B	0.018	0.23831	B	0.117855	0.02698	U	3.242140	1	0.08975	N	2.135	0.59519	M	2.96	0.09542	T	-0.38	0.13418	N	0.133	0.17140	-0.9465	0.41566	T	0.018	0.07659	T	10	0.01795718	0.00387	T	0.011266	0.28723	T	0.024	0.04979	0.214	0.13354	0.0986583533028	0.09354	0.4068903591273714	0.40605	0.377068023165	0.39141	0.670666396618	0.62933	T	0.007077	0.06498	T	-0.588403	0.00171	T	-0.681356	0.06901	T	0.0233121260215865	0.01061	T	0.654835	0.27736	T	0.045745466	0.07541	0.077403575	0.17239	0.045745466	0.07541	0.077403575	0.17239	-4.69	0.33283	T	.	.	0.077	0.07650	B	.;.;.;.	.;.;.;.	0.775147	0.11452	8.058	0.81550736933085821	0.13741	0.03575	0.08788	N	ALL	0.048506	0.08283	N	-1.27167055417541	0.04021	0.1807042	-1.40347149872559	0.03217	0.1496123	0.999999999998876	0.74766	0.56387	0.32371	0	0.552344	0.17405	0	0.504199	0.09095	0	0.618803	0.45993	0	.	.	2.9	-3.23	0.04794	-0.239000	0.08983	-1.027000	0.06560	-0.150000	0.12128	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2411:0.7589:0.0	12.940	0.57734	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	833.83	26	chr19	55081335	.	G	A	833.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.655;DP=219;ExcessHet=0;FS=1.05;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.63;ReadPosRankSum=-0.599;SOR=1.002	GT:AD:DP:GQ:PL	0/1:22,35:57:99:844,0,542	6	0	1	0
chr19	55227323	55227323	G	A	exonic	TMEM86B	.	nonsynonymous SNV	TMEM86B:NM_001372013:exon2:c.C536T:p.T179M,TMEM86B:NM_173804:exon3:c.C539T:p.T180M	.	343	1176	3	0	0	3	0.00127389	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.0101946239112	.	0.00179712	0.0011	0	0.0001	0	0	0.0002	0	0.0068	0.0007633	118	154602	rs538668600	0.0004	0.0004	0.0003	0.0005	0.0057	0.0004	0.0004	0.0053	0.0051	0	2.257e-05	0	0	1.915e-05	0	3.425e-05	0.0006	0.0057	0.0002	0.0002	0.0002	0.0002	0.0056	0.0002	0.0001	0.0039	0.0034	2.406e-05	0	6.53e-05	0	0	0	0	4.411e-05	0	0.0056	0.257	0.16738	T	0.192	0.28300	T	0.994	0.66517	D	0.721	0.54900	P	0.542932	0.11516	N	0.797316	1	0.08975	N	0.86	0.21358	L	2.01	0.21291	T	-1.17	0.29933	N	0.085	0.06190	-1.0245	0.22246	T	0.040	0.17277	T	10	0.010435492	0.00232	T	0.010195	0.26434	T	0.032	0.07718	0.414	0.45216	0.202086224978	0.19791	0.2952881744574137	0.29441	0.0102585673086	0.00945	0.399007499218	0.24931	T	0.002386	0.01778	T	-0.579946	0.00193	T	-0.602939	0.12566	T	0.0204829964786768	0.00748	T	0.760924	0.38541	T	0.033160593	0.03479	0.04490789	0.05925	0.033160593	0.03479	0.04490789	0.05924	-2.508	0.05836	T	.	.	0.103	0.18622	B	.	.	1.431820	0.18503	13.77	0.99517583028900725	0.69040	0.07447	0.13464	N	AEFBCI	0.030040	0.02947	N	-0.564443064384428	0.20033	1.053084	-0.74363300252104	0.15879	0.8373084	0.999640913041582	0.41316	0.646311	0.45356	0	0.577304	0.33150	0	0.645312	0.48771	0	0.636168	0.56350	0	.	.	4.65	-0.397	0.11804	0.829000	0.27102	0.266000	0.16602	-0.123000	0.13640	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4314:0.1442:0.4245:0.0	5.247	0.14819	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	0.002039	0.000000	0.000000	0.000000	0.000000	0.000000	0.003165	0.000000	0.07143	1261.83	48	chr19	55227323	.	G	A	1261.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.79;DP=357;ExcessHet=0;FS=0.794;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.02;ReadPosRankSum=-0.716;SOR=0.697	GT:AD:DP:GQ:PL	0/1:42,48:90:99:1272,0,978	6	0	1	0
chr19	58396103	58396103	G	C	exonic	RNF225	.	nonsynonymous SNV	RNF225:NM_001195135:exon1:c.G14C:p.R5P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	0	0	0	0	0	0.0002	6.5e-06	1	154602	rs746478530	1.162e-05	1.094e-05	1.29e-05	1.031e-05	0.0005	6.88e-06	5.57e-06	0.0001	0.0001	0	0.0003	0	0	0	0.0005	0	5.216e-05	2.547e-05	6.574e-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	.	.	.	0.202	0.27414	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.33	0.35031	T	.	.	.	0.395	0.43610	.	.	.	.	.	.	.	0.23004064	0.39946	T	.	.	.	.	.	.	.	0.596538173739	0.59332	0.6810831403345805	0.68047	.	.	0.820739448071	0.85141	D	0.008722	0.07985	T	-0.430811	0.01466	T	-0.547739	0.17543	T	.	.	.	0.455554	0.13039	T	0.41227555	0.61574	0.4535591	0.68221	0.41227555	0.61574	0.4535591	0.68221	-3.198	0.12456	T	.	.	0.125	0.26514	B	.	.	4.127631	0.61742	24.4	0.72717231104606839	0.10070	0.89202	0.49526	D	AEFDBHCI	0.652577	0.62593	D	.	.	.	.	.	.	0.999991855449919	0.74766	0.578255	0.32838	2	0.150725	0.03546	3	0.606814	0.37721	0	0.645665	0.59343	0	.	.	4.17	3.12	0.34986	0.315000	0.19200	7.444000	0.58900	0.614000	0.49286	0.000000	0.06391	1.000000	0.68203	0.577000	0.30821	0.1136:0.0:0.8864:0.0	8.006	0.29484	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	.	.	.	.	.	.	.	.	0.07143	549.83	30	chr19	58396103	.	G	C	549.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.68;DP=203;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.5;ReadPosRankSum=-0.822;SOR=0.883	GT:AD:DP:GQ:PL	0/1:22,22:44:99:560,0,471	6	0	1	0
chr20	2102135	2102135	G	C	exonic	STK35	.	nonsynonymous SNV	STK35:NM_080836:exon1:c.G254C:p.G85A	.	442	1018	58	4	0	66	0.0313987	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	.	.	0.00499201	0.0290	0	0.0312	0	.	0.0226	0	0.0336	0.0022509	348	154602	rs35569160	0.0093	0.0086	0.0090	0.0096	0.0207	0.0091	0.0091	0.0172	0.0168	0.0013	0.0037	0.0145	3.46e-05	0.0030	0.0207	0.0093	0.0106	0.0181	0.0065	0.0065	0.0067	0.0064	0.0183	0.0062	0.0061	0.0152	0.0140	0.0017	0.0022	0.0057	0.0130	0.0002	0.0028	0.0171	0.0096	0.0062	0.0183	0.969	0.02057	T	0.955	0.02582	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.20048	N	0.345	0.11182	N	-0.27	0.67367	T	-0.31	0.12099	N	0.087	0.06454	-1.0002	0.29860	T	0.088	0.33885	T	9	0.0032199621	0.00055	T	.	.	.	0.048	0.13305	.	.	0.550461726676	0.54703	0.16462568001023903	0.16382	1.13840482688	0.78847	0.568786382675	0.48506	T	0.003846	0.03252	T	-0.455329	0.01050	T	-0.411889	0.32008	T	0.0035260295607513	0.00037	T	0.478252	0.14398	T	0.026215747	0.01651	0.049031965	0.07407	0.026215747	0.01651	0.049031965	0.07407	-3.411	0.15204	T	.	.	0.065	0.01859	B	.	.	0.154691	0.05464	1.931	0.712979375028716	0.09582	0.12875	0.17532	N	ALL	0.041294	0.06258	N	-1.46821197340051	0.02078	0.09137222	-1.46390537359334	0.02646	0.1220965	0.999999999998893	0.74766	0.024636	0.00146	3	0.218748	0.04544	0	0.239995	0.05000	1	0.56214	0.19341	0	.	.	3.98	-1.58	0.08029	-0.011000	0.12659	0.363000	0.17596	-0.212000	0.08331	0.000000	0.06391	0.226000	0.23749	0.044000	0.14658	0.4268:0.1785:0.3947:0.0	4.043	0.09242	806	0.43582	.	.	.	.	.	.	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	0.001445	0.000000	0.000000	0.014286	0.100000	0.000000	0.000000	0.000000	0.08333	451.66	28	chr20	2102135	.	G	C	451.66	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.51;DP=208;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.04;ReadPosRankSum=0.034;SOR=0.848	GT:AD:DP:GQ:PL	0/1:25,20:45:99:461,0,641	5	0	1	1
chr20	3803192	3803192	G	C	exonic	CDC25B	.	nonsynonymous SNV	CDC25B:NM_001287524:exon9:c.G766C:p.G256R,CDC25B:NM_001287518:exon12:c.G1069C:p.G357R,CDC25B:NM_001287522:exon12:c.G883C:p.G295R,CDC25B:NM_021872:exon12:c.G1219C:p.G407R,CDC25B:NM_001287516:exon13:c.G1150C:p.G384R,CDC25B:NM_001287517:exon13:c.G1108C:p.G370R,CDC25B:NM_001287519:exon13:c.G1006C:p.G336R,CDC25B:NM_001287520:exon13:c.G1006C:p.G336R,CDC25B:NM_004358:exon13:c.G1300C:p.G434R,CDC25B:NM_021873:exon13:c.G1342C:p.G448R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.774	0.123202022054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0011	0.0007	0.0006	0.0008	0.0006	0.0006	0.0007	0.0007	0.0006	0	0.0002	7.607e-05	0	0.0002	0.0008	0.0004	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.002	0.79402	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.085	0.87354	M	1.81	0.25182	T	-7.58	0.95276	D	0.931	0.98268	-0.6717	0.61752	T	0.200	0.55640	T	10	0.98157537	0.98189	D	0.123202	0.80433	D	0.774	0.92419	0.92	0.98568	0.736929849786	0.73457	0.9132364924811667	0.91297	2.14713465814	0.95289	0.696103453636	0.66582	T	0.201973	0.83660	T	0.280949	0.81396	D	0.165788	0.81157	D	0.999002754688263	0.95858	D	0.989968	0.96869	D	0.92810935	0.94047	0.8602535	0.92196	0.92810935	0.94048	0.8602535	0.92197	-11.248	0.81537	D	.	.	0.994	0.95995	P	.;.;.;.;.	.;.;.;.;.	5.603180	0.92472	32	0.99900572155913103	0.97275	0.97177	0.73143	D	AEFGBCI	0.864053	0.78274	D	0.851518238386656	0.89196	9.872593	0.791774268680612	0.89217	9.884684	0.999999999996727	0.74766	0.706548	0.73137	0	0.696144	0.67643	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.24	5.24	0.72863	7.420000	0.79394	11.730000	0.94979	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.879000	0.42020	0.0:0.0:1.0:0.0	16.698	0.85199	809	0.43032	Rhodanese-like domain|Rhodanese-like domain|Rhodanese-like domain;Rhodanese-like domain|Rhodanese-like domain|Rhodanese-like domain;Rhodanese-like domain|Rhodanese-like domain|Rhodanese-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	.	.	.	.	.	.	.	.	0.4	869.31	70	chr20	3803192	.	G	C	869.31	.	AC=4;AF=0.4;AN=10;BaseQRankSum=-1.474;DP=561;ExcessHet=3.1439;FS=207.23;MLEAC=5;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.22;ReadPosRankSum=1.8;SOR=10.505	GT:AD:DP:GQ:PL	0/1:70,40:122:99:162,0,999	1	0	4	2
chr20	23605827	23605827	G	T	exonic	CST9	.	nonsynonymous SNV	CST9:NM_001008693:exon1:c.C38A:p.A13E	.	409	1112	1	0	0	1	0.000449438	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.114	0.00358455784618	.	.	8.241e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs775403422	2.736e-06	2.736e-06	1.361e-06	4.125e-06	3.597e-06	6.4e-07	4.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.597e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.42783	D	0.092	0.39954	T	0.989	0.62824	D	0.737	0.55577	P	0.222531	0.03465	N	1.909150	1	0.08975	N	1.445	0.36358	L	2.11	0.19860	T	-1.25	0.31576	N	0.554	0.57946	-1.0590	0.12007	T	0.060	0.24981	T	10	0.5086652	0.61968	D	0.003585	0.08185	T	0.114	0.32008	0.524	0.62818	0.272205846399	0.26826	0.21780489820823143	0.21696	0.27160334723	0.29678	0.294348865747	0.09561	T	0.012558	0.11015	T	-0.162898	0.26314	T	-0.471768	0.25325	T	0.732875823974609	0.42359	D	0.448055	0.12582	T	0.10893195	0.25753	0.19438243	0.43059	0.10893195	0.25753	0.19438243	0.43058	-5.419	0.41102	T	.	.	0.403	0.59760	A	.	.	1.286532	0.16869	12.81	0.96870925834237076	0.31419	0.03696	0.08973	N	AEFBI	0.024966	0.01631	N	-0.434418156242739	0.24271	1.309358	-0.638098500705122	0.18518	0.9895779	5.48498120375925E-4	0.07273	0.446893	0.09132	0	0.547309	0.14657	0	0.491513	0.07944	0	0.530356	0.10902	0	.	.	3.27	0.071	0.13693	0.002000	0.12962	-0.205000	0.10907	0.618000	0.50648	0.000000	0.06391	0.000000	0.08366	0.064000	0.16252	0.255:0.2656:0.4793:0.0	3.559	0.07430	929	0.16858	.	.	.	.	.	.	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	1293.49	36	chr20	23605827	.	G	T	1293.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.1;DP=301;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.65;ReadPosRankSum=-1.558;SOR=0.703	GT:AD:DP:GQ:PL	0/1:59,52:111:99:1304,0,1389	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	0/1:86,44:138:99:203,0,1323	0	0	6	1
chr20	35000390	35000390	G	A	exonic	MYH7B	.	nonsynonymous SNV	MYH7B:NM_020884:exon39:c.G5005A:p.G1669S	.	416	1055	48	3	0	54	0.0249538	.	.	.	728613	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.392	.	0.0027	0.00439297	0.0051	0.0004	0.0023	0	0	0.0036	0.0129	0.0193	0.0044954	695	154602	rs201963394	0.0038	0.0038	0.0032	0.0044	0.0190	0.0037	0.0037	0.0183	0.0179	0.0006	0.0023	0.0005	2.519e-05	0.0002	0.0181	0.0030	0.0043	0.0190	0.0030	0.0030	0.0028	0.0033	0.0151	0.0028	0.0027	0.0124	0.0113	0.0005	0	0.0061	0.0006	0	0	0.0170	0.0036	0.0118	0.0151	0.035	0.43708	D	0.365	0.16717	T	.	.	.	.	.	.	0.038163	0.24316	N	0.205114	0.982128	0.39855	D	.	.	.	-1.7	0.83072	D	-3.35	0.66436	D	0.424	0.46368	-0.2066	0.77501	T	0.448	0.78348	T	10	0.012250483	0.00264	T	.	.	.	0.392	0.70764	.	.	0.624326400291	0.62126	0.25789666232263975	0.25703	0.175981301143	0.19813	0.720171570778	0.70071	T	.	.	.	-0.289717	0.09663	T	-0.17334	0.57136	T	0.0316961208468174	0.02257	T	0.927707	0.73352	D	0.14921352	0.34028	0.30081695	0.56115	0.16378477	0.36542	0.36038232	0.61480	-4.789	0.34463	T	.	.	0.139	0.30608	B	.;.	.;.	4.044325	0.59904	24.2	0.99355405892283677	0.60779	0.92154	0.55065	D	AEFDBHCI	0.773292	0.70735	D	0.0254915060892776	0.43015	2.602944	0.145682470713919	0.46915	2.929722	0.941430718863094	0.27477	0.580535	0.33130	0	0.379588	0.06130	0	0.576033	0.28219	0	0.711	0.71501	0	.	.	4.07	4.07	0.46726	4.877000	0.62779	11.887000	0.98989	0.667000	0.69007	1.000000	0.71638	1.000000	0.68203	0.955000	0.50612	0.0:0.0:1.0:0.0	16.863	0.85889	614	0.66605	Myosin tail;Myosin tail	.	.	.	.	.	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	0.005051	0.014946	0.011696	0.000000	0.060345	0.018293	0.007576	0.07143	1985.44	33	chr20	35000390	.	G	A	1985.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.116;DP=362;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.09;ReadPosRankSum=0.207;SOR=0.655	GT:AD:DP:GQ:PL	0/1:97,82:179:99:1996,0,2417	6	0	1	0
chr20	38354379	38354379	C	G	exonic	LBP	.	nonsynonymous SNV	LBP:NM_004139:exon4:c.C464G:p.T155S	.	425	1095	2	0	0	2	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.0051615828506	0.0025	0.00119808	0.0017	0.0005	0.0023	0.0012	0	0.0025	0.0011	0	0.0020116	311	154602	rs140791140	0.0030	0.0030	0.0030	0.0029	0.0035	0.0029	0.0029	0.0034	0.0034	0.0004	0.0034	0.0019	0.0009	0.0002	0.0009	0.0035	0.0026	6.957e-05	0.0021	0.0021	0.0021	0.0021	0.0039	0.0019	0.0018	0.0031	0.0028	0.0005	0	0.0039	0.0012	0.0021	0.0002	0.0034	0.0031	0.0052	0	0.69	0.04302	T	1.0	0.01155	T	0.003	0.11197	B	0.041	0.23986	B	0.170971	0.17375	N	0.571547	1	0.08975	N	0.79	0.19579	N	3.5	0.05014	T	-0.44	0.14588	N	0.129	0.12341	-0.9143	0.46311	T	0.009	0.03140	T	10	0.0044599473	0.00092	T	0.005162	0.13125	T	0.058	0.16647	0.452	0.51448	0.141422826196	0.13715	0.24020681835314237	0.23934	0.088101396591	0.09952	0.333153188229	0.15410	T	0.021314	0.16617	T	-0.641629	0.00081	T	-0.694952	0.06106	T	0.0077685531030956	0.00091	T	0.467153	0.13745	T	0.07193386	0.15964	0.064475514	0.12926	0.07193386	0.15963	0.064475514	0.12926	-3.119	0.11516	T	.	.	0.084	0.09820	B	.	.	0.338335	0.07118	3.697	0.39771850120629304	0.02765	0.10952	0.16306	N	AEFDBI	0.600519	0.59312	D	-1.00189542527828	0.08564	0.4020368	-0.948026893486962	0.10969	0.555921	0.987116285399738	0.31187	0.559995	0.30671	0	0.547309	0.14657	0	0.527494	0.11647	0	0.530356	0.10902	0	.	.	4.77	2.81	0.31971	2.259000	0.42914	1.738000	0.28378	0.599000	0.40250	0.055000	0.21596	0.002000	0.18203	0.136000	0.19798	0.0:0.7225:0.1809:0.0966	6.628	0.22032	793	0.45818	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	0.002518	0.000000	0.004076	0.000000	0.000000	0.000000	0.006098	0.000000	0.07143	2090.44	34	chr20	38354379	.	C	G	2090.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.053;DP=359;ExcessHet=0;FS=1.199;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.81;ReadPosRankSum=-0.134;SOR=0.572	GT:AD:DP:GQ:PL	0/1:87,90:177:99:2101,0,2084	6	0	1	0
chr20	43515059	43515059	G	A	exonic	L3MBTL1	.	nonsynonymous SNV	L3MBTL1:NM_001377307:exon2:c.G283A:p.D95N,L3MBTL1:NM_001377308:exon2:c.G283A:p.D95N,L3MBTL1:NM_001377309:exon2:c.G283A:p.D95N,L3MBTL1:NM_001377310:exon2:c.G283A:p.D95N,L3MBTL1:NM_015478:exon2:c.G283A:p.D95N,L3MBTL1:NM_001377311:exon4:c.G163A:p.D55N,L3MBTL1:NM_001377303:exon5:c.G553A:p.D185N,L3MBTL1:NM_001377306:exon5:c.G553A:p.D185N,L3MBTL1:NM_032107:exon5:c.G487A:p.D163N	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	0.164886559829	.	.	6.612e-05	0	0	0	0	0.0001	0	0	5.17e-05	8	154602	rs772930755	1.915e-05	1.915e-05	2.45e-05	1.375e-05	2.158e-05	1.328e-05	1.144e-05	1.46e-05	1.227e-05	0	0	0	0	3.744e-05	0	2.158e-05	3.312e-05	0	1.314e-05	1.313e-05	2.569e-05	0	1.47e-05	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0.0005	0	0.007	0.59928	D	0.0	0.92824	D	0.001	0.07471	B	0.002	0.06944	B	0.186091	0.16972	N	0.536823	0.999859	0.20048	N	2.075	0.57047	M	-2.65	0.90210	D	-4.7	0.79829	D	0.232	0.27554	-0.4517	0.70344	T	0.579	0.84845	D	10	0.092011005	0.16167	T	0.164887	0.84389	D	0.155	0.40530	0.269	0.21735	0.831258655363	0.82965	0.27402243351089794	0.27315	0.168630496494	0.19017	0.442194759846	0.30877	T	0.014997	0.12660	T	-0.216848	0.18424	T	-0.357581	0.38333	T	0.402661174535751	0.29042	T	0.742826	0.36203	T	0.08951471	0.20917	0.06473549	0.13019	0.08951471	0.20917	0.06473549	0.13019	-5.103	0.37939	T	.	.	0.101	0.17488	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.195046	0.27991	17.65	0.99166906432048785	0.54269	0.59664	0.30977	D	AEFBCI	0.114176	0.22499	N	-0.382686340853942	0.26085	1.420987	-0.305170260353953	0.27931	1.553483	0.999994924637678	0.74766	0.455138	0.09556	0	0.484254	0.07192	0	0.391439	0.06340	0	0.56751	0.32155	0	.	.	4.92	3.97	0.45241	1.957000	0.40017	2.136000	0.30812	0.676000	0.76740	0.028000	0.20300	1.000000	0.68203	0.763000	0.36255	0.0985:0.0:0.9015:0.0	9.532	0.38365	661	0.61838	.;.;.;.;.;.;.	.	.	.	.	.	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	1107.63	38	chr20	43515059	.	G	A	1107.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.28;DP=286;ExcessHet=0;FS=0.756;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.35;ReadPosRankSum=0.593;SOR=0.824	GT:AD:DP:GQ:PL	0/1:62,45:107:99:1118,0,1500	6	0	1	0
chr20	49249611	49249611	A	G	exonic	ZNFX1	.	nonsynonymous SNV	ZNFX1:NM_021035:exon14:c.T3413C:p.V1138A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.549	0.0375138781942	.	.	9.886e-05	0	0	0.0014	0	0	0	0	7.76e-05	12	154602	rs139644193	2.052e-05	2.052e-05	2.178e-05	1.925e-05	0.0006	1.456e-05	1.264e-05	0.0004	0.0004	0	0	0	0.0006	0	0	8.993e-07	1.656e-05	4.637e-05	1.971e-05	1.97e-05	1.284e-05	2.69e-05	0.0006	5.24e-06	2.45e-06	0.0002	8.381e-05	0	0	0	0	0.0006	0	0	0	0	0	0.653	0.04802	T	0.535	0.09931	T	0.678	0.41346	P	0.171	0.35348	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.26	0.31868	L	-1.43	0.80730	T	-1.46	0.35792	N	0.686	0.69213	-0.5103	0.68275	T	0.325	0.69367	T	10	0.16893443	0.31473	T	0.037514	0.57664	D	0.549	0.81310	0.42	0.46200	0.624800544692	0.62174	0.7166931901380775	0.71612	1.26387204846	0.82115	0.640071213245	0.58574	T	0.367247	0.73235	T	-0.0383481	0.46194	T	0.131606	0.78997	D	0.162690818665365	0.18068	T	0.811819	0.46320	T	0.20378561	0.42467	0.19443199	0.43066	0.20378561	0.42467	0.19443199	0.43065	-8.8	0.66400	D	.	.	0.163	0.36375	B	.;.	.;.	3.665522	0.52099	23.2	0.99515666996283092	0.68919	0.97850	0.77597	D	AEFDGBCI	0.805263	0.72990	D	0.301345708649119	0.56217	3.786172	0.430622931606641	0.63481	4.582735	0.999999998396028	0.74766	0.722319	0.85440	0	0.702456	0.74545	0	0.575934	0.27490	0	0.735409	0.98432	0	.	.	5.41	5.41	0.78313	9.048000	0.93289	11.196000	0.88846	0.686000	0.82685	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	1.0:0.0:0.0:0.0	14.408	0.66663	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	.	.	.	.	.	.	.	.	0.07143	1546.46	34	chr20	49249611	.	A	G	1546.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.83;DP=317;ExcessHet=0;FS=4.415;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.18;ReadPosRankSum=-0.653;SOR=0.401	GT:AD:DP:GQ:PL	0/1:68,59:127:99:1557,0,1796	6	0	1	0
chr20	50608696	50608696	G	A	exonic	RIPOR3	.	nonsynonymous SNV	RIPOR3:NM_001290268:exon10:c.C727T:p.R243W,RIPOR3:NM_080829:exon10:c.C715T:p.R239W	.	417	1092	13	0	0	13	0.00591716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.194	.	0.0030	0.00299521	0.0015	0.0089	0.0011	0	0.0006	0.0006	0.0033	0.0018	0.0014036	217	154602	rs146608853	0.0007	0.0007	0.0007	0.0008	0.0074	0.0007	0.0007	0.0067	0.0064	0.0074	0.0012	0.0003	2.519e-05	0.0003	0.0054	0.0004	0.0011	0.0024	0.0029	0.0029	0.0030	0.0028	0.0086	0.0027	0.0026	0.0078	0.0075	0.0086	0	0.0012	0	0.0002	0	0.0068	0.0007	0.0043	0.0012	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.996	0.84481	D	0.000038	0.55875	D	0.113950	0.999355	0.46766	D	.	.	.	4.24	0.02590	T	-6.45	0.91395	D	0.539	0.56662	-1.1321	0.01684	T	0.017	0.07092	T	10	0.014628202	0.00307	T	.	.	.	0.194	0.47447	.	.	0.188950314367	0.18478	0.7456769486626577	0.74513	0.147208149037	0.16604	0.401348888874	0.25256	T	0.23984	0.60804	T	-0.386566	0.02830	T	-0.32222	0.42332	T	0.0610925249243361	0.07339	T	0.90041	0.65400	D	0.66904294	0.76382	0.482499	0.70036	0.66904294	0.76383	0.482499	0.70036	-9.648	0.71778	D	.	.	0.178	0.38889	B	.;.	.;.	4.965140	0.82122	27.7	0.99852357759980759	0.93191	0.71609	0.35087	D	AEFBI	0.742646	0.68620	D	0.0389342769538542	0.43635	2.652567	-0.0476691694940398	0.37592	2.203088	8.56114553760182E-4	0.07917	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	5.08	1.68	0.23219	2.438000	0.44495	2.906000	0.35479	-0.279000	0.06446	1.000000	0.71638	1.000000	0.68203	0.718000	0.34707	0.0:0.0:0.3068:0.6932	12.240	0.53852	972	0.05671	FAM65, N-terminal;FAM65, 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	0.002520	0.000000	0.005435	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	1395.44	33	chr20	50608696	.	G	A	1395.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.9;DP=303;ExcessHet=0;FS=4.583;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.24;ReadPosRankSum=2.57;SOR=0.387	GT:AD:DP:GQ:PL	0/1:52,62:114:99:1406,0,1254	6	0	1	0
chr20	58228584	58228584	G	T	exonic	ANKRD60	.	nonsynonymous SNV	ANKRD60:NM_001304369:exon1:c.C70A:p.P24T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.0354911398342	.	.	.	.	.	.	.	.	.	.	.	.	.	rs891543592	4.572e-05	3.969e-05	3.775e-05	5.458e-05	0.0004	3.504e-05	3.134e-05	3.931e-05	3.509e-05	0	0	0	0	0	0.0004	5.158e-05	0	0	1.348e-05	1.979e-05	1.313e-05	1.384e-05	3.005e-05	2.24e-06	8.4e-07	4.99e-06	1.87e-06	0	0	0	0	0	0	0	3.005e-05	0	0	0.022	0.48642	D	0.032	0.53426	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.43	0.69657	T	-0.81	0.22294	N	0.126	0.11912	-0.9209	0.45431	T	0.177	0.52240	T	6	0.09960663	0.18086	T	0.035491	0.56377	D	0.102	0.29158	0.204	0.11936	0.218112801441	0.21410	0.20389641504994493	0.20306	.	.	.	.	.	0.003123	0.02525	T	-0.109704	0.34817	T	-0.395359	0.33925	T	0.0768259512700816	0.09576	T	0.348565	0.07715	T	0.07171298	0.15898	0.07454582	0.16320	0.07171298	0.15898	0.07454582	0.16320	-4.203	0.26795	T	.	.	0.088	0.11749	B	.	.	1.557041	0.19948	14.52	0.8829482705637629	0.17865	0.04144	0.09629	N	AEFDBHCI	0.024119	0.01444	N	-0.672940284167096	0.16795	0.8588326	-0.878624652354604	0.12601	0.6491425	0.999998772961418	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.608004	0.38603	0	0.554799	0.18163	0	.	.	2.88	-0.299	0.12173	0.236000	0.17745	0.177000	0.15587	0.477000	0.22036	0.000000	0.06391	0.000000	0.08366	0.015000	0.10482	0.2806:0.2409:0.4785:0.0	3.027	0.05725	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	.	.	.	.	.	.	.	.	0.08333	93.68	6	chr20	58228584	.	G	T	93.68	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.398;DP=33;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.41;ReadPosRankSum=-0.221;SOR=0.446	GT:AD:DP:GQ:PL	0/1:5,4:9:99:103,0,115	5	0	1	1
chr20	58853749	58853749	A	G	exonic	GNAS	.	nonsynonymous SNV	GNAS:NM_080425:exon1:c.A484G:p.M162V	ACTH-independent macronodular adrenal hyperplasia, Isolated cases;Acromegaly, somatic;McCune-Albright syndrome, somatic, mosaic;Osseous heteroplasia, progressive, Autosomal dominant;Pseudohypoparathyroidism Ia, Autosomal dominant;Pseudohypoparathyroidism Ib, Autosomal dominant;Pseudohypoparathyroidism Ic, Autosomal dominant;Pseudopseudohypoparathyroidism, Autosomal dominant	0	1484	38	0	0	38	0.0126414	.	.	.	138230	not_specified|McCune-Albright_syndrome|Progressive_osseous_heteroplasia|Pituitary_adenoma_3,_multiple_types|Pseudohypoparathyroidism_type_1C|ACTH-independent_macronodular_adrenal_hyperplasia_1|Pseudohypoparathyroidism_type_I_A|Pseudohypoparathyroidism_type_1B|Pseudopseudohypoparathyroidism|not_provided	MedGen:CN169374|MONDO:MONDO:0018919,MedGen:C0242292,OMIM:174800,Orphanet:562|Human_Phenotype_Ontology:HP:0025027,MONDO:MONDO:0008153,MedGen:C0334041,OMIM:166350,Orphanet:2762|MONDO:MONDO:0054665,MedGen:C4540135,OMIM:617686|MONDO:MONDO:0012911,MedGen:C2932716,OMIM:612462,Orphanet:79444|MONDO:MONDO:0020735,MedGen:C1857451,OMIM:219080|MONDO:MONDO:0007078,MedGen:C3494506,OMIM:103580,Orphanet:79443|MONDO:MONDO:0011301,MedGen:C1864100,OMIM:603233,Orphanet:94089|MONDO:MONDO:0012912,MedGen:C0033835,OMIM:612463,Orphanet:79445|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.203	0.0949466166271	0.0019	0.00199681	0.0029	0.0003	0.0010	0.0001	0.0008	0.0027	0.0047	0.0084	0.0026132	404	154602	rs138731520	0.0028	0.0028	0.0026	0.0029	0.0071	0.0027	0.0027	0.0066	0.0064	0.0004	0.0016	0.0033	7.557e-05	0.0007	0.0071	0.0027	0.0026	0.0071	0.0020	0.0020	0.0020	0.0021	0.0052	0.0018	0.0018	0.0036	0.0031	0.0006	0.0011	0.0029	0.0035	0	0.0007	0.0034	0.0027	0.0043	0.0052	0.121	0.30515	T	0.04	0.50809	D	0.03	0.20002	B	0.019	0.18783	B	.	.	.	.	1	0.81001	D	1.7	0.43825	L	-2.5	0.89219	D	-0.56	0.24460	N	0.285	0.39861	-0.5439	0.67016	T	0.488	0.80496	T	9	0.007057309	0.00160	T	0.094947	0.76342	D	0.203	0.48915	.	.	0.639683211758	0.63671	0.31735799233520745	0.31648	0.414400824624	0.42123	0.505955815315	0.39657	T	0.310332	0.68230	T	-0.310884	0.07670	T	-0.215614	0.53157	T	0.00521878172385827	0.00056	T	0.630137	0.25265	T	0.10605981	0.25077	0.20907132	0.45236	0.1357147	0.31486	0.23530838	0.48770	-6.069	0.47117	T	0.6870914745616232	0.76430	0.209	0.47382	B	.;.;.	.;.;.	2.289382	0.29282	18.07	0.95461722188939713	0.26997	0.64551	0.32443	D	AEFDBCI	0.118686	0.23197	N	-0.423884643905183	0.24634	1.331532	-0.306067365517828	0.27903	1.551647	0.999982082156287	0.51787	0.764865	0.99124	0	0.563428	0.19063	0	0.731555	0.93304	0	0.63947	0.58350	0	.	.	4.8	2.5	0.29355	0.817000	0.26938	3.285000	0.37261	0.756000	0.94297	0.911000	0.31706	0.986000	0.30841	0.997000	0.79791	0.8027:0.0:0.1973:0.0	6.779	0.22821	955	0.09969	.;.;.	.	.	.	.	.	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	0.003525	0.000000	0.008152	0.000000	0.000000	0.000000	0.006098	0.003788	0.07143	1076.44	33	chr20	58853749	.	A	G	1076.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.363;DP=273;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.23;ReadPosRankSum=1.08;SOR=0.717	GT:AD:DP:GQ:PL	0/1:46,42:88:99:1087,0,1181	6	0	1	0
chr20	59868873	59868873	G	A	exonic	SYCP2	.	nonsynonymous SNV	SYCP2:NM_014258:exon37:c.C3794T:p.T1265M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.00595801247156	.	.	1.66e-05	0	0	0.0002	0	0	0	0	1.29e-05	2	154602	rs776127429	6.858e-06	6.84e-06	4.094e-06	9.65e-06	7.589e-05	3.47e-06	2.53e-06	2.012e-05	1.058e-05	6.02e-05	0	0	7.589e-05	1.877e-05	0	3.604e-06	0	0	1.319e-05	1.314e-05	2.577e-05	0	2.418e-05	2.19e-06	8.2e-07	.	.	2.418e-05	0	0	0	0	0	0	1.476e-05	0	0	0.352	0.15251	T	0.118	0.36233	T	0.005	0.12996	B	0.004	0.10090	B	0.257073	0.03684	N	1.470240	1	0.08975	N	0.145	0.08828	N	2.55	0.13795	T	-0.24	0.10833	N	0.098	0.07949	-0.9901	0.32576	T	0.017	0.06855	T	10	0.05678758	0.06420	T	0.005958	0.15549	T	0.016	0.02506	0.232	0.16005	0.082315109003	0.07666	0.07562257538560342	0.07498	0.0294204365103	0.03026	0.245568484068	0.03316	T	0.069006	0.33601	T	-0.538417	0.00342	T	-0.719027	0.04843	T	0.0543728583249622	0.06252	T	0.286671	0.06419	T	0.018056054	0.00327	0.0364378	0.03089	0.018056054	0.00327	0.0364378	0.03089	-4.583	0.31957	T	.	.	0.080	0.19879	B	.;.;.	.;.;.	-1.714626	0.00189	0.003	0.6347028470255246	0.07232	0.00542	0.02495	N	AEFI	0.039330	0.05696	N	-1.77554164132331	0.00608	0.02619458	-1.84838476807948	0.00616	0.02738623	0.195501857837644	0.18053	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	4.57	-7.81	0.01074	-1.510000	0.02366	-2.226000	0.04031	-6.725000	0.00003	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.184:0.0:0.7071:0.109	12.353	0.54488	994	0.00715	.;.;.	.	.	.	.	.	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	1493.45	33	chr20	59868873	.	G	A	1493.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.62;DP=322;ExcessHet=0;FS=0.606;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.16;ReadPosRankSum=1.13;SOR=0.636	GT:AD:DP:GQ:PL	0/1:79,68:147:99:1504,0,1670	6	0	1	0
chr20	61894913	61894913	G	T	exonic	CDH4	.	nonsynonymous SNV	CDH4:NM_001252338:exon7:c.G943T:p.V315F,CDH4:NM_001252339:exon7:c.G832T:p.V278F,CDH4:NM_001794:exon8:c.G1054T:p.V352F	.	429	1091	2	0	0	2	0.000915751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.438	0.0611923901714	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.37e-06	1.368e-06	0	2.755e-06	8.999e-07	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.999e-07	1.658e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.238	0.17821	T	0.16	0.34124	T	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.63	0.41750	L	0.67	0.52187	T	-2.66	0.56945	D	0.862	0.85979	-0.7538	0.57736	T	0.227	0.59146	T	9	0.8321738	0.82378	D	0.061192	0.68251	D	0.438	0.74235	0.618	0.75232	0.736949025373	0.73459	0.7982000183815768	0.79773	.	.	0.698626756668	0.66946	T	0.19984	0.55723	T	0.18075	0.72112	D	0.0218579	0.71750	D	0.991166293621063	0.81426	D	0.820118	0.69400	T	0.45409343	0.64300	0.32969096	0.58846	0.45409343	0.64301	0.32969096	0.58845	-9.26	0.69356	D	0.5889003213050071	0.65568	0.264	0.49845	B	.;.;.	.;.;.	5.029994	0.83658	28.1	0.99358213576641208	0.60904	0.98202	0.80493	D	AEFGBI	0.883909	0.81318	D	0.647298428698634	0.76194	6.441669	0.643854497426231	0.78156	6.819493	0.999999942649474	0.74766	0.536767	0.22168	0	0.547309	0.14657	0	0.383324	0.06259	0	0.567892	0.33627	0	.	.	4.6	4.6	0.56512	9.214000	0.94249	11.444000	0.92776	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	17.395	0.87332	940	0.13648	Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;.	.	.	.	.	.	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	1464.44	36	chr20	61894913	.	G	T	1464.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.326;DP=298;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.96;ReadPosRankSum=0.006;SOR=0.648	GT:AD:DP:GQ:PL	0/1:56,57:113:99:1475,0,1382	6	0	1	0
chr20	62336352	62336352	C	T	exonic	LAMA5	.	nonsynonymous SNV	LAMA5:NM_005560:exon18:c.G2311A:p.E771K	.	.	.	.	.	.	.	.	.	.	.	3287191	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.083	0.0272223778169	.	.	1.713e-05	0	8.682e-05	0	0	1.558e-05	0	0	1.29e-05	2	154602	rs766638363	1.234e-05	1.3e-05	1.501e-05	9.652e-06	4.498e-05	7.72e-06	6.37e-06	7.46e-06	5.72e-06	0	4.498e-05	0	0	0	0	1.261e-05	3.319e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.359	0.11957	T	0.422	0.14034	T	0.004	0.12183	B	0.008	0.13708	B	0.012475	0.29163	N	0.384126	1	0.08975	N	0.955	0.23872	L	-0.02	0.62918	T	-1.98	0.45769	N	0.247	0.27910	-1.0659	0.10339	T	0.117	0.41187	T	10	0.09348893	0.16549	T	0.027222	0.50054	D	0.083	0.24192	0.566	0.68768	0.290620346082	0.28682	0.3523547215768121	0.35149	.	.	0.526282191277	0.42510	T	0.097147	0.39966	T	-0.23253	0.16316	T	-0.488924	0.23504	T	0.0668934270744557	0.08208	T	0.444056	0.12368	T	0.030390564	0.02693	0.0630653	0.12437	0.030390564	0.02692	0.0630653	0.12437	-3.388	0.14896	T	.	.	0.097	0.15788	B	.	.	1.669159	0.21281	15.13	0.81090563779781599	0.13515	0.12677	0.17413	N	AEFGBCI	0.076751	0.15448	N	-0.987331025887178	0.08873	0.4177544	-0.939900236021357	0.11158	0.5667366	0.999921234661598	0.46280	0.67177	0.52595	0	0.491513	0.07743	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	4.76	1.43	0.21585	0.634000	0.24304	0.009000	0.13411	-0.193000	0.09282	0.033000	0.20612	0.001000	0.17328	0.200000	0.21896	0.269:0.4063:0.1198:0.2048	1.089	0.01556	789	0.46346	Laminin EGF domain|Laminin EGF domain|EGF-like domain	.	.	.	.	.	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	0	0	.	.	.	.	.	.	.	.	0.07143	962.49	35	chr20	62336352	.	C	T	962.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.066;DP=288;ExcessHet=0;FS=1.625;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.62;ReadPosRankSum=0.173;SOR=0.583	GT:AD:DP:GQ:PL	0/1:55,45:100:99:973,0,1241	6	0	1	0
chr20	62821797	62821797	T	C	exonic	COL9A3	.	nonsynonymous SNV	COL9A3:NM_001853:exon8:c.T410C:p.L137P	Epiphyseal dysplasia, multiple, 3, with or without myopathy, Autosomal dominant	7	1498	16	1	0	18	0.00597213	.	.	.	257389	not_provided|not_specified|Connective_tissue_disorder	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0003900,MedGen:C0009782	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.294	0.0673241444334	0.0027	0.00339457	0.0046	0.0049	0.0029	0	0	0.0054	0.0015	0.0070	0.0036869	570	154602	rs147947060	0.0040	0.0042	0.0039	0.0040	0.0057	0.0039	0.0038	0.0052	0.0051	0.0030	0.0021	0.0170	0	0.0007	0.0055	0.0039	0.0041	0.0057	0.0039	0.0039	0.0041	0.0037	0.0052	0.0036	0.0035	0.0042	0.0040	0.0036	0	0.0015	0.0210	0.0002	9.414e-05	0.0068	0.0046	0.0028	0.0052	0.128	0.26965	T	0.405	0.23570	T	0.005	0.12996	B	0.007	0.12992	B	0.006952	0.31695	U	0.302681	0.999795	0.49177	D	-1.165	0.00881	N	-3.57	0.94904	D	-0.1	0.08495	N	0.379	0.42050	-0.4097	0.71720	T	0.365	0.72560	T	10	0.009360015	0.00211	T	0.067324	0.70132	D	0.294	0.61388	.	.	0.74863057164	0.74636	0.5024657450337587	0.50168	0.113901460295	0.12851	0.680965423584	0.64407	T	3.69E-4	0.00107	T	-0.223375	0.17535	T	-0.0919972	0.64011	T	0.00856606393201849	0.00104	T	0.683432	0.33655	T	0.1268334	0.29697	0.2035398	0.44434	0.180683	0.39201	0.16422048	0.38053	-1.168	0.01206	T	.	.	0.099	0.43801	B	.;.;.	.;.;.	2.953959	0.39315	20.9	0.95034833747809411	0.26033	0.58758	0.30729	D	AEFDBCI	0.250613	0.37063	N	-0.483242777438565	0.22629	1.210	-0.222696171986814	0.30723	1.732407	0.99908956704427	0.38397	0.695654	0.57023	0	0.578056	0.33634	0	0.723109	0.80598	0	0.604944	0.38103	0	.	.	4.79	4.79	0.60909	1.790000	0.38366	4.042000	0.41433	0.603000	0.45986	0.998000	0.41325	1.000000	0.68203	0.793000	0.37436	0.0:0.1018:0.0:0.8982	7.156	0.24815	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	0	0	1	0	0.007568	0.000000	0.009537	0.005882	0.000000	0.000000	0.000000	0.011364	0.08333	360.27	15	chr20	62821797	.	T	C	360.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.253;DP=174;ExcessHet=0;FS=1.271;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.74;ReadPosRankSum=1.63;SOR=0.465	GT:AD:DP:GQ:PL	0/1:21,16:37:99:370,0,519	5	0	1	1
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	0/1:160,155:315:99:3392,0,3960	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	0/1:151,136:289:99:3361,0,3536	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	0/1:153,101:254:99:2228,0,3964	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	0/1:108,77:185:99:1649,0,2617	2	3	2	0
chr21	26966182	26966182	G	T	exonic	ADAMTS5	.	nonsynonymous SNV	ADAMTS5:NM_007038:exon1:c.C210A:p.S70R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.0140435625359	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	0.21968	T	0.32	0.19131	T	0.0	0.02946	B	0.002	0.06944	B	0.011214	0.29618	N	0.312565	1	0.08975	N	0.805	0.20218	L	3.4	0.05642	T	-0.66	0.19085	N	0.208	0.23125	-0.9093	0.46940	T	0.007	0.02321	T	10	0.079529345	0.12803	T	0.014044	0.33885	T	0.021	0.04004	0.445	0.50302	0.209622950755	0.20551	0.4463678524785094	0.44554	0.501383328697	0.48521	0.624176323414	0.56318	T	0.049497	0.28324	T	-0.287906	0.09846	T	-0.651334	0.08861	T	0.0875085610351895	0.10919	T	0.523848	0.17156	T	0.086962596	0.20232	0.08599346	0.19892	0.086962596	0.20232	0.08599346	0.19891	-2.308	0.04599	T	.	.	0.133	0.28778	B	.	.	2.152383	0.27418	17.45	0.9636678823156587	0.29570	0.18232	0.20175	N	AEFDBHCI	0.120043	0.23402	N	-0.940909680153926	0.09898	0.4705493	-0.800100148356099	0.14493	0.7575246	0.99999999296471	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.503968	0.08637	0	0.554799	0.18163	0	.	.	4.85	1.52	0.22158	0.315000	0.19200	4.670000	0.44274	0.676000	0.76740	0.014000	0.18986	1.000000	0.68203	0.892000	0.42986	0.2671:0.0:0.7329:0.0	10.617	0.44646	740	0.53092	Peptidase M12B, propeptide	.	.	.	.	.	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	1057.45	36	chr21	26966182	.	G	T	1057.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.436;DP=315;ExcessHet=0;FS=2.461;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.81;ReadPosRankSum=0.639;SOR=0.48	GT:AD:DP:GQ:PL	0/1:70,50:120:99:1068,0,1827	6	0	1	0
chr21	42111559	42111559	C	A	exonic	UMODL1	.	nonsynonymous SNV	UMODL1:NM_001199527:exon11:c.C2121A:p.D707E,UMODL1:NM_173568:exon11:c.C2337A:p.D779E,UMODL1:NM_001004416:exon12:c.C1953A:p.D651E,UMODL1:NM_001199528:exon12:c.C1737A:p.D579E	.	426	1020	74	2	0	78	0.0368272	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	.	0.0048	0.00459265	0.0083	0.0012	0.0045	0	0.0023	0.0080	0.0056	0.0233	0.0075549	1168	154602	rs140135030	0.0070	0.0070	0.0063	0.0077	0.0354	0.0069	0.0068	0.0314	0.0299	0.0009	0.0054	0.0232	5.039e-05	0.0014	0.0354	0.0057	0.0088	0.0249	0.0054	0.0054	0.0051	0.0057	0.0188	0.0051	0.0050	0.0157	0.0146	0.0011	0	0.0082	0.0199	0	0.0007	0.0204	0.0067	0.0081	0.0188	0.325	0.27194	T	0.733	0.12142	T	0.187	0.31319	B	0.08	0.28873	B	0.185998	0.03216	N	1.688570	1	0.08975	N	1.5	0.37844	L	-0.53	0.70833	T	-0.8	0.22078	N	0.07	0.12055	-0.9874	0.33249	T	0.137	0.45432	T	10	0.002900362	0.00046	T	.	.	.	0.025	0.05312	0.13	0.03494	0.265010934533	0.26120	0.09560597137393033	0.09492	0.313514092549	0.33644	0.258530199528	0.04717	T	0.004089	0.03502	T	-0.549777	0.00293	T	-0.544907	0.17817	T	0.00342129005796419	0.00036	T	0.59884	0.23175	T	0.059739888	0.12177	0.045058846	0.05978	0.059739888	0.12177	0.045058846	0.05978	-2.767	0.07883	T	.	.	0.147	0.50871	B	.;.;.;.	.;.;.;.	-0.189392	0.03145	0.508	0.76817094624353499	0.11621	0.04875	0.10616	N	AEFDBHCI	0.102208	0.20509	N	-0.986139826949741	0.08899	0.4190532	-1.0491067709566	0.08725	0.4304242	0.996676952249143	0.34917	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	4.29	0.034	0.13502	-0.668000	0.05369	-1.372000	0.05595	0.518000	0.23583	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.5592:0.1545:0.2863	5.142	0.14292	981	0.03995	.;.;.;.	.	.	.	.	.	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	0.032226	0.035354	0.020380	0.023392	0.000000	0.043103	0.039634	0.049242	0.1429	2297.24	63	chr21	42111559	.	C	A	2297.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.89;DP=584;ExcessHet=0.3476;FS=0.55;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=12.83;ReadPosRankSum=0.976;SOR=0.768	GT:AD:DP:GQ:PL	0/1:89,82:171:99:2196,0,2250	5	0	2	0
chr21	42137640	42137722	AGGTGGGTGCGGAGTGGGGTGGGAGGTGCAGGCTGACAGGAAGGTGGGTGTGGAGTGGGGTGGGAGGTGCAGGCTGACAGGAG	0	splicing	UMODL1	.	.	.	.	432	559	239	60	232	591	0.24306	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	2812.68	33	chr21	42137640	.	AGGTGGGTGCGGAGTGGGGTGGGAGGTGCAGGCTGACAGGAAGGTGGGTGTGGAGTGGGGTGGGAGGTGCAGGCTGACAGGAG	*	2812.68	.	AC=2;AF=0.143;AN=14;BaseQRankSum=2.58;DP=360;ExcessHet=0;FS=0.937;MLEAC=2;MLEAF=0.143;MQ=59.93;MQRankSum=0;QD=17.92;ReadPosRankSum=-1.281;SOR=0.904	GT:AD:DP:GQ:PL	0/1:0,33:69:99:2476,1355,1775	5	0	2	0
chr22	17085111	17085111	C	T	exonic	IL17RA	.	nonsynonymous SNV	IL17RA:NM_001289905:exon1:c.C20T:p.P7L,IL17RA:NM_014339:exon1:c.C20T:p.P7L	Immunodeficiency 51, Autosomal recessive	9	1497	15	1	0	17	0.00564596	.	.	.	337275	Familial_Candidiasis,_Recessive|IL17RA-related_disorder|not_provided|Immunodeficiency_51	MedGen:CN239217|.|MedGen:C3661900|MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953,Orphanet:1334	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.007	.	.	0.000998403	0.0101	0	0.1	0	.	0.0096	0	0.0093	0.0012742	197	154602	rs143652002	0.0062	0.0056	0.0062	0.0061	0.0070	0.0061	0.0060	0.0069	0.0069	0.0007	0.0037	0.0013	0	0.0018	0.0043	0.0070	0.0045	0.0025	0.0038	0.0038	0.0040	0.0036	0.0061	0.0035	0.0034	0.0056	0.0054	0.0010	0.0132	0.0048	0.0017	0.0002	0.0008	0.0034	0.0061	0.0052	0.0017	0.682	0.04404	T	0.767	0.04555	T	0.273	0.31830	B	0.012	0.16012	B	.	.	.	.	1	0.08975	N	0.69	0.16971	N	3.5	0.05014	T	-0.06	0.07882	N	0.076	0.07811	-0.9411	0.42442	T	0.007	0.02558	T	9	0.0030026138	0.00049	T	.	.	.	0.007	0.00512	.	.	0.119812018005	0.11559	0.46248366720885065	0.46166	0.194208701575	0.21755	0.684590578079	0.64928	T	0.059973	0.31260	T	-0.649737	0.00073	T	-0.698545	0.05906	T	0.00580034769711307	0.00063	T	0.585041	0.21304	T	0.021738866	0.00792	0.04205848	0.04922	0.026000118	0.01602	0.050834775	0.08059	-4.004	0.24861	T	.	.	0.126	0.28863	B	.;.	.;.	0.535400	0.09040	5.823	0.79814070094754175	0.12913	0.13521	0.17903	N	ALL	0.022963	0.01216	N	-1.19850937032097	0.05022	0.2280187	-1.27014917068788	0.04840	0.2292478	0.999999966870353	0.74766	0.652421	0.48094	0	0.52208	0.09955	0	0.64067	0.45733	0	0.372554	0.06265	0	.	.	3.48	-0.0922	0.12993	-0.029000	0.12278	-0.336000	0.09852	-0.556000	0.04876	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.4087:0.4013:0.19	6.391	0.20790	994	0.00715	.;.	.	.	.	.	.	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	0.002915	0.000000	0.007042	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	649.63	21	chr22	17085111	.	C	T	649.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.93;DP=218;ExcessHet=0;FS=1.117;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.26;ReadPosRankSum=-1.182;SOR=0.606	GT:AD:DP:GQ:PL	0/1:20,29:49:99:660,0,434	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	0/1:72,62:134:99:1436,0,1869	0	3	3	1
chr22	20242849	20242849	C	T	exonic	RTN4R	.	nonsynonymous SNV	RTN4R:NM_023004:exon2:c.G284A:p.R95Q	.	412	1106	3	0	1	4	0.0013544	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.0151781609179	.	.	4.265e-05	0	0	0.0006	0	0	0	0	3.23e-05	5	154602	rs755446506	1.027e-05	1.026e-05	9.536e-06	1.101e-05	0.0001	6.17e-06	4.89e-06	4.907e-05	3.165e-05	0	4.472e-05	0	0.0001	0	0	5.396e-06	0	2.319e-05	3.286e-05	3.284e-05	3.855e-05	2.691e-05	0.0004	1.261e-05	7.98e-06	6.842e-05	2.863e-05	0	0	0	0	0.0004	0	0	4.41e-05	0	0	0.225	0.18626	T	0.282	0.21545	T	0.001	0.07471	B	0.001	0.04355	B	0.863148	0.08880	N	0.905862	0.999676	0.20721	N	0.135	0.08676	N	0.37	0.57729	T	-0.12	0.08809	N	0.071	0.04426	-1.0355	0.18700	T	0.075	0.30272	T	10	0.04432696	0.03378	T	0.015178	0.35761	T	0.031	0.07369	0.502	0.59460	0.480291771823	0.47660	0.24098992199893285	0.24012	0.433511948005	0.43505	0.418078631163	0.27573	T	0.102825	0.41092	T	-0.474999	0.00792	T	-0.577348	0.14781	T	0.0216123192230991	0.00866	T	0.562444	0.19755	T	0.10247928	0.24216	0.09190894	0.21632	0.10247928	0.24216	0.09190894	0.21632	-4.894	0.35667	T	.	.	0.077	0.06205	B	.	.	0.616446	0.09851	6.611	0.93063958317213613	0.22676	0.06850	0.12875	N	AEFDGBI	0.088238	0.17888	N	-1.36100991531098	0.03012	0.1339003	-1.42439236580768	0.03010	0.139586	0.999997379546821	0.74766	0.695654	0.57023	0	0.588066	0.40923	0	0.723109	0.80598	0	0.604944	0.38103	0	.	.	4.42	-3.84	0.03976	-2.300000	0.01219	-6.690000	0.01331	-0.186000	0.09761	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.2136:0.3102:0.0:0.4762	4.419	0.10899	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	1154.44	35	chr22	20242849	.	C	T	1154.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.36;DP=264;ExcessHet=0;FS=0.832;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.43;ReadPosRankSum=1.36;SOR=0.589	GT:AD:DP:GQ:PL	0/1:37,43:80:99:1165,0,831	6	0	1	0
chr22	20721336	20721336	G	C	exonic	PI4KA	.	nonsynonymous SNV	PI4KA:NM_001362862:exon42:c.C4985G:p.T1662S,PI4KA:NM_001362863:exon42:c.C5012G:p.T1671S,PI4KA:NM_058004:exon43:c.C5078G:p.T1693S	Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.510	0.137835661769	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.053e-06	2.052e-06	4.084e-06	0	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	0.38863	T	0.011	0.64786	D	0.995	0.67487	D	0.956	0.69739	D	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	0.32	0.58468	T	-3.68	0.70314	D	0.856	0.85238	-0.1027	0.80036	T	0.430	0.77199	T	10	0.7647389	0.76616	D	0.137836	0.82033	D	0.510	0.78971	.	.	0.610589977033	0.60745	0.5215848846702029	0.52081	1.74466233129	0.90909	0.836608409882	0.87577	D	0.875713	0.97353	D	0.270256	0.80464	D	0.150427	0.80210	D	0.985687851905823	0.76606	D	0.89931	0.90706	D	0.648788	0.75299	0.3209739	0.58049	0.648788	0.75300	0.3209739	0.58048	-10.782	0.78449	D	.	.	0.851	0.79791	P	.;.	.;.	4.834528	0.78871	27.0	0.99737007529162902	0.83192	0.98903	0.88402	D	AEFBI	0.909392	0.86597	D	0.886558306281683	0.91085	10.70863	0.843709402020154	0.92643	11.546	0.999999999999441	0.74766	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.12	5.12	0.69459	9.751000	0.98084	11.531000	0.93088	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.554	0.91028	934	0.15400	Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain;Phosphoinositide 3-kinase, accessory (PIK) 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	919.46	33	chr22	20721336	.	G	C	919.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.363;DP=267;ExcessHet=0;FS=0.805;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.45;ReadPosRankSum=0.339;SOR=0.547	GT:AD:DP:GQ:PL	0/1:47,41:88:99:930,0,1053	6	0	1	0
chr22	20727333	20727333	G	A	exonic	PI4KA	.	nonsynonymous SNV	PI4KA:NM_001362862:exon40:c.C4745T:p.A1582V,PI4KA:NM_001362863:exon40:c.C4772T:p.A1591V,PI4KA:NM_058004:exon41:c.C4838T:p.A1613V	Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.397	0.101710993754	.	.	3.396e-05	0	0	0	0	6.186e-05	0	0	2.59e-05	4	154602	rs773075609	5.066e-05	5.13e-05	4.905e-05	5.229e-05	0.0001	4.129e-05	3.781e-05	4.909e-05	3.826e-05	0	6.746e-05	0	0.0001	1.891e-05	0	5.307e-05	8.285e-05	1.161e-05	5.258e-05	5.253e-05	5.139e-05	5.382e-05	0.0004	2.558e-05	1.83e-05	6.835e-05	2.86e-05	2.413e-05	0	0	0	0.0004	0	0	4.41e-05	0.0010	0	.	.	.	0.005	0.72224	D	.	.	.	.	.	.	0.000000	0.84330	D	0.048747	1	0.81001	D	.	.	.	-0.26	0.67187	T	.	.	.	0.742	0.74189	-0.1591	0.78693	T	0.403	0.75338	T	10	0.81649995	0.80885	D	0.101711	0.77475	D	0.397	0.71163	.	.	0.74282567625	0.74051	0.540568723893045	0.53981	1.6211804712	0.89064	0.699438035488	0.67062	T	0.915047	0.98432	D	0.0301478	0.55744	T	-0.00856738	0.69778	D	0.723187208175659	0.41860	D	0.964404	0.86792	D	0.36491072	0.58206	0.25275275	0.50910	0.36491072	0.58207	0.25275275	0.50909	-9.276	0.69456	D	.	.	0.111	0.21653	B	.	.	5.522743	0.91795	32	0.99927283505956821	0.99163	0.99071	0.90800	D	AEFDBI	0.903708	0.85313	D	0.644614683711408	0.76021	6.410147	0.61988646815902	0.76385	6.48129	0.999999610422687	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.80507	0.99327	0	0.714379	0.83352	0	.	.	5.44	4.41	0.52588	9.759000	0.98125	9.888000	0.82251	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.729000	0.35066	0.0:0.0:0.8612:0.1388	15.595	0.76314	917	0.20147	Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) 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	720.49	34	chr22	20727333	.	G	A	720.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.438;DP=243;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.61;ReadPosRankSum=2.16;SOR=0.683	GT:AD:DP:GQ:PL	0/1:42,33:75:99:731,0,995	6	0	1	0
chr22	21946008	21946008	C	G	exonic	PPM1F	.	nonsynonymous SNV	PPM1F:NM_014634:exon2:c.G41C:p.S14T	.	421	1084	16	1	0	18	0.00823422	.	.	.	2134976	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.054	0.0257790969655	0.0008	0.000599042	0.0012	0	0.0003	0	0	0.0017	0.0012	0.0016	0.0011061	171	154602	rs139013152	0.0008	0.0008	0.0007	0.0009	0.0039	0.0008	0.0008	0.0027	0.0023	0.0001	0.0002	0.0174	2.567e-05	0	0.0039	0.0004	0.0018	0.0013	0.0008	0.0008	0.0008	0.0009	0.0010	0.0007	0.0007	0.0005	0.0005	2.405e-05	0	0.0005	0.0187	0	9.409e-05	0.0034	0.0007	0	0.0010	0.606	0.05668	T	0.63	0.07196	T	0.006	0.26577	B	0.009	0.25278	B	0.004481	0.01026	N	2.694200	1	0.08975	N	0	0.06538	N	2.56	0.22067	T	-0.45	0.14782	N	0.139	0.13769	-1.0178	0.24431	T	0.027	0.11574	T	10	0.0021249056	0.00031	T	0.025779	0.48731	D	0.054	0.15330	.	.	0.170165803431	0.16609	0.12335654753335572	0.12261	0.391337161651	0.40333	0.357301831245	0.18992	T	0.047883	0.27853	T	-0.616148	0.00116	T	-0.703382	0.05643	T	0.0107639225799415	0.00152	T	0.285571	0.05082	T	0.20939964	0.43205	0.046781745	0.06594	0.20939964	0.43205	0.046781745	0.06594	-4.452	0.30256	T	.	.	0.071	0.04558	B	.;.	.;.	0.719235	0.10881	7.556	0.7109853634938238	0.09515	0.03943	0.09341	N	AEFBHCI	0.044107	0.07055	N	-1.00542435511144	0.08490	0.3982985	-0.992517248170322	0.09952	0.4982417	0.999674215809566	0.41644	0.722319	0.85440	0	0.80507	0.99744	0	0.709663	0.75317	0	0.735409	0.98432	0	.	.	2.68	1.49	0.21966	0.228000	0.17594	.	.	0.547000	0.25779	0.000000	0.06391	0.001000	0.17328	0.077000	0.17074	0.1942:0.6142:0.1916:0.0	6.502	0.21371	698	0.58074	.;.	.	.	.	.	.	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	0.002717	0.002924	0.000000	0.008621	0.003049	0.000000	0.07143	709.49	33	chr22	21946008	.	C	G	709.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.824;DP=261;ExcessHet=0;FS=1.78;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.06;ReadPosRankSum=-0.806;SOR=0.941	GT:AD:DP:GQ:PL	0/1:54,34:88:99:720,0,1242	6	0	1	0
chr22	22893750	22893750	G	C	exonic	IGLL5	.	nonsynonymous SNV	IGLL5:NM_001178126:exon2:c.G257C:p.R86P	.	224	1296	1	0	1	2	0.000385654	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.297	0.00152466423057	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.27426	T	0.203	0.27325	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.18198	N	0.695	0.17993	N	6.51	0.00528	T	-2.12	0.49018	N	0.244	0.27554	-0.9569	0.39753	T	0.001	0.00438	T	9	0.086820275	0.14795	T	0.001525	0.02369	T	0.297	0.61730	0.437	0.48993	0.0297737177859	0.01360	0.48619770528846007	0.48539	.	.	.	.	.	0.016983	0.19921	T	-0.170924	0.25095	T	-0.483297	0.24097	T	0.047261608365618	0.05012	T	0.380262	0.09172	T	0.20079501	0.42067	0.17040162	0.39146	0.20079501	0.42067	0.17040162	0.39145	-3.177	0.12202	T	.	.	0.1	0.19357	B	.;.	.;.	0.838630	0.12104	8.655	0.81769782066303465	0.13851	0.05621	0.11529	N	AEFDGBHCI	0.098218	0.19796	N	-1.03769202994412	0.07831	0.3651351	-1.12783864064277	0.07172	0.3478758	0.998297830747551	0.36710	0.554377	0.28877	0	0.588066	0.40923	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	3.39	-1.24	0.08948	0.795000	0.26632	-2.839000	0.03309	-0.109000	0.15193	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	0.392:0.2237:0.3843:0.0	3.050	0.05793	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	1900.46	34	chr22	22893750	.	G	C	1900.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.378;DP=371;ExcessHet=0;FS=2.599;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.27;ReadPosRankSum=0.501;SOR=0.918	GT:AD:DP:GQ:PL	0/1:99,86:185:99:1911,0,2236	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	0/1:98,15:113:99:335,0,4042	1	0	6	0
chr22	23868632	23868632	C	T	exonic	SLC2A11	.	nonsynonymous SNV	SLC2A11:NM_001024938:exon3:c.C272T:p.T91M,SLC2A11:NM_001024939:exon3:c.C281T:p.T94M,SLC2A11:NM_001282864:exon3:c.C293T:p.T98M,SLC2A11:NM_030807:exon4:c.C293T:p.T98M	.	415	1079	27	1	0	29	0.0132602	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	0.00285328224875	0.0015	0.000998403	0.0018	0.0002	0.0019	0.0001	0.0021	0.0019	0.0033	0.0029	0.0018628	288	154602	rs147655616	0.0025	0.0025	0.0025	0.0026	0.0064	0.0025	0.0024	0.0048	0.0042	0.0004	0.0013	0.0011	5.038e-05	0.0031	0.0064	0.0027	0.0023	0.0027	0.0016	0.0016	0.0015	0.0016	0.0027	0.0014	0.0013	0.0019	0.0018	0.0003	0	0.0019	0.0009	0.0002	0.0022	0.0034	0.0022	0.0024	0.0027	0.233	0.21066	T	0.553	0.37872	T	0.018	0.22331	B	0.017	0.18140	B	0.495473	0.05061	N	1.277620	1	0.08975	N	0.74	0.18910	N	0.32	0.58468	T	-0.12	0.19509	N	0.093	0.08088	-1.0634	0.10926	T	0.072	0.29130	T	10	0.011306167	0.00248	T	0.002853	0.05986	T	0.020	0.03691	.	.	0.19670166235	0.19296	0.20182158837149614	0.20099	0.202585186865	0.22681	0.478492975235	0.35850	T	0.070789	0.34048	T	-0.568831	0.00225	T	-0.591968	0.13497	T	0.00144861977799099	0.00015	T	0.382662	0.37284	T	0.01077548	0.00010	0.027635762	0.00930	0.01077548	0.00010	0.027635762	0.00930	-8.159	0.62148	D	.	.	0.089	0.14015	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	-0.555940	0.01696	0.123	0.83462073176033214	0.14739	0.01290	0.04493	N	AEFDBIJ	0.035620	0.04615	N	-1.45997001376919	0.02140	0.09415012	-1.58184644757198	0.01766	0.08035872	0.474301786729943	0.20733	0.706548	0.73137	0	0.724815	0.89359	0	0.693117	0.63056	0	0.655142	0.61905	0	.	.	3.27	-6.53	0.01697	-0.918000	0.04130	-5.737000	0.01613	-0.249000	0.07183	0.000000	0.06391	0.000000	0.08366	0.017000	0.10941	0.2235:0.4031:0.2241:0.1493	1.016	0.01413	976	0.04745	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	0.003021	0.000000	0.004076	0.005848	0.000000	0.000000	0.003049	0.007576	0.07143	1131.53	43	chr22	23868632	.	C	T	1131.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.45;DP=272;ExcessHet=0;FS=0.841;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.86;ReadPosRankSum=-0.393;SOR=0.869	GT:AD:DP:GQ:PL	0/1:43,45:88:99:1142,0,961	6	0	1	0
chr22	25761108	25761108	C	T	exonic	MYO18B	.	nonsynonymous SNV	MYO18B:NM_001318245:exon2:c.C16T:p.R6C,MYO18B:NM_032608:exon2:c.C16T:p.R6C	Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1304859	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.610	0.171646218778	.	.	1.656e-05	0	0	0	0	2.998e-05	0	0	1.29e-05	2	154602	rs770116314	4.106e-06	6.156e-06	2.724e-06	5.503e-06	5.396e-06	1.48e-06	9.7e-07	1.94e-06	1.28e-06	0	0	0	0	0	0	5.396e-06	0	0	6.569e-06	6.566e-06	0	1.344e-05	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0005	0	0.001	0.78490	D	0.001	0.83351	D	.	.	.	.	.	.	0.002404	0.36612	N	0.000000	0.999314	0.46639	D	2.045	0.56016	M	-3.62	0.95145	D	-2.97	0.61865	D	0.767	0.77413	0.943	0.96288	D	0.879	0.95995	D	10	0.8120339	0.80477	D	0.171646	0.84886	D	0.610	0.84719	.	.	0.964869779237	0.96449	0.4342245956018676	0.43339	0.436778139737	0.43757	0.804712295532	0.82682	D	0.251092	0.62129	T	0.277527	0.81104	D	0.160872	0.80860	D	0.995559096336365	0.87638	D	0.90371	0.66210	D	0.2101121	0.43298	0.19368885	0.42951	0.2101121	0.43298	0.19368885	0.42950	-9.153	0.68798	D	.	.	0.911	0.89329	P	.;.;.	.;.;.	5.745818	0.93355	33	0.99945811557870856	0.99901	0.85680	0.44839	D	AEFDGBHI	0.766121	0.70240	D	0.686737292116178	0.78763	6.937622	0.670094277410193	0.80114	7.227621	0.999999999925638	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573078	0.19857	0	0.635259	0.50027	0	.	.	5.3	5.3	0.74745	4.513000	0.60194	7.541000	0.60087	0.549000	0.26987	0.999000	0.42656	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	14.454	0.66981	982	0.03397	.;.;.	.	.	.	.	.	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	2133.44	39	chr22	25761108	.	C	T	2133.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.15;DP=449;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.42;ReadPosRankSum=-2.374;SOR=0.714	GT:AD:DP:GQ:PL	0/1:75,84:159:99:2144,0,1770	6	0	1	0
chr22	27983495	27983495	C	G	exonic	TTC28	.	nonsynonymous SNV	TTC28:NM_001145418:exon23:c.G6172C:p.G2058R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.600	0.158398177192	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.157e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.027	0.58613	D	1.0	0.90584	D	0.999	0.92359	D	0.000562	0.43250	N	0.231958	0.999999	0.58761	D	2.005	0.54552	M	-3.6	0.95009	D	-2.8	0.59226	D	0.789	0.78546	0.805	0.94474	D	0.837	0.94553	D	10	0.61998546	0.67922	D	0.158398	0.83880	D	0.600	0.84183	0.239	0.17065	0.750618531641	0.74836	0.5121720383386701	0.51139	.	.	0.657954216003	0.61117	T	0.095784	0.39692	T	0.353062	0.86712	D	0.269372	0.86538	D	0.99226039648056	0.82702	D	0.987934	0.95926	D	0.3778262	0.59159	0.5174505	0.72120	0.3778262	0.59159	0.5174505	0.72120	-4.333	0.28637	T	.	.	0.962	0.88285	P	.;.	.;.	4.774876	0.77330	26.7	0.9991599844056599	0.98379	0.99519	0.96998	D	AEFDBI	0.922723	0.89811	D	0.528874973212774	0.68806	5.26799	0.494853380951096	0.67649	5.112284	0.99999983332082	0.74766	0.706548	0.73137	0	0.588015	0.36545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.62	3.6	0.40374	7.481000	0.80171	7.580000	0.60937	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.9161:0.0:0.0839	12.290	0.54132	958	0.09170	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.2	30.35	50	chr22	27983495	.	C	G	30.35	.	AC=2;AF=0.2;AN=10;BaseQRankSum=-2.569;DP=400;ExcessHet=0.3476;FS=169.787;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.15;ReadPosRankSum=2.26;SOR=6.868	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:95,13:108:2:0|1:27983493_C_G:2,0,3534:27983493	3	0	2	2
chr22	29310838	29310838	C	T	exonic	GAS2L1	.	nonsynonymous SNV	GAS2L1:NM_001278730:exon5:c.C850T:p.P284S,GAS2L1:NM_001362985:exon5:c.C850T:p.P284S,GAS2L1:NM_006478:exon5:c.C850T:p.P284S,GAS2L1:NM_152236:exon5:c.C850T:p.P284S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.0498980575008	.	.	4.155e-05	0	0	0	0	7.544e-05	0	0	3.23e-05	5	154602	rs754474897	8.918e-06	8.893e-06	8.191e-06	9.652e-06	2.323e-05	4.98e-06	3.83e-06	5.31e-06	3.88e-06	0	0	0	0	0	0	9.9e-06	0	2.323e-05	1.314e-05	1.313e-05	1.284e-05	1.345e-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	0.156	0.24090	T	0.234	0.24840	T	0.0	0.02946	B	0.001	0.04355	B	0.735884	0.09816	N	0.868598	1	0.08975	N	0.345	0.11182	N	1.01	0.41058	T	0.14	0.05405	N	0.17	0.18784	-1.0004	0.29803	T	0.054	0.22693	T	10	0.06025836	0.07373	T	0.049898	0.64009	D	0.018	0.03083	0.199	0.11247	0.236619781664	0.23270	0.114807668361982	0.11408	.	.	0.531475901604	0.43243	T	0.007719	0.07108	T	-0.446186	0.01189	T	-0.722326	0.04684	T	0.0137682892414364	0.00259	T	0.574842	0.20648	T	.	.	.	.	.	.	.	.	-6.105	0.47150	T	.	.	0.064	0.01715	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.551830	0.01709	0.125	0.6735085941764839	0.08329	0.05659	0.11573	N	AEFDGBCI	0.139696	0.26137	N	-1.23872875687802	0.04450	0.2008617	-1.27003875141028	0.04841	0.2293261	0.999999726498702	0.74766	0.75658	0.98901	0	0.626922	0.53725	0	0.858454	0.99976	0	0.648885	0.59868	0	.	.	4.08	-0.745	0.10538	-0.581000	0.05913	-0.618000	0.08187	-0.261000	0.06906	0.000000	0.06391	0.000000	0.08366	0.065000	0.16320	0.0:0.3017:0.4965:0.2017	6.149	0.19517	479	0.77495	.;.;.;.;.;.	.	.	.	.	.	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	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.07143	1274.83	36	chr22	29310838	.	C	T	1274.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.092;DP=254;ExcessHet=0;FS=1.806;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15;ReadPosRankSum=1.48;SOR=0.502	GT:AD:DP:GQ:PL	0/1:33,52:85:99:1285,0,762	6	0	1	0
chr22	30461658	30461658	C	G	exonic	SEC14L3	.	nonsynonymous SNV	SEC14L3:NM_174975:exon10:c.G808C:p.V270L,SEC14L3:NM_001257379:exon11:c.G631C:p.V211L,SEC14L3:NM_001257382:exon11:c.G631C:p.V211L,SEC14L3:NM_001376914:exon11:c.G631C:p.V211L,SEC14L3:NM_001257378:exon12:c.G577C:p.V193L	.	432	1080	10	0	0	10	0.00460829	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	.	0.0100	0.0091853	0.0039	0.0272	0.0037	0	0	0.0021	0.0049	0.0002	0.0037386	578	154602	rs114917409	0.0022	0.0022	0.0023	0.0021	0.0289	0.0021	0.0021	0.0274	0.0267	0.0289	0.0048	0.0100	0	7.531e-05	0.0148	0.0012	0.0057	0.0002	0.0088	0.0088	0.0092	0.0083	0.0255	0.0084	0.0082	0.0242	0.0237	0.0255	0	0.0091	0.0118	0	0	0.0170	0.0011	0.0080	0	0.849	0.02746	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.000001	0.62929	D	0.057245	0.999998	0.58761	D	-0.345	0.03330	N	0.31	0.58613	T	-0.56	0.17003	N	0.735	0.73555	-1.0491	0.14649	T	0.027	0.11663	T	10	0.008301944	0.00188	T	.	.	.	0.078	0.22779	0.492	0.57890	0.51880533489	0.51525	0.354047608614421	0.35318	0.124429324764	0.14008	0.551303803921	0.46041	T	0.007573	0.06968	T	-0.481758	0.00722	T	-0.445192	0.28229	T	0.00762017556866538	0.00089	T	0.814719	0.46890	T	0.2970276	0.52636	0.16573685	0.38325	0.2970276	0.52636	0.16573685	0.38324	-0.98	0.00978	T	.	.	0.191	0.40968	B	.;.;.;.;.	.;.;.;.;.	2.013231	0.25586	16.81	0.98109927242421657	0.38343	0.98818	0.87255	D	AEFBI	0.497750	0.53214	N	-0.310653764955379	0.28743	1.587896	-0.0307619325477468	0.38332	2.256919	0.999765746221878	0.42728	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.95	4.94	0.64645	3.799000	0.55233	-0.292000	0.10184	0.599000	0.40250	0.998000	0.41325	0.000000	0.08366	0.928000	0.46473	0.0:0.8644:0.0:0.1356	11.570	0.50083	339	0.86048	.;.;.;.;.	.	.	.	.	.	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	0.030211	0.085859	0.046196	0.017544	0.050000	0.008621	0.006098	0.003788	0.07143	698.83	38	chr22	30461658	.	C	G	698.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.1;DP=286;ExcessHet=0;FS=8.116;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.63;ReadPosRankSum=-1.952;SOR=1.591	GT:AD:DP:GQ:PL	0/1:53,28:81:99:709,0,1311	6	0	1	0
chr22	30942246	30942246	T	C	exonic	MORC2	.	nonsynonymous SNV	MORC2:NM_001303256:exon7:c.A452G:p.N151S,MORC2:NM_001303257:exon7:c.A452G:p.N151S,MORC2:NM_014941:exon8:c.A266G:p.N89S	Charcot-Marie-Tooth disease, axonal, type 2Z, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.198	0.00531985814663	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.569e-06	6.567e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.192	0.20988	T	0.831	0.03706	T	0.625	0.40054	P	0.412	0.44859	B	0.000000	0.84330	D	0.044808	0.999897	0.50595	D	0.075	0.08292	N	2.72	0.12055	T	-1.5	0.40468	N	0.257	0.29081	-0.9837	0.34140	T	0.028	0.11882	T	10	0.24544722	0.41792	T	0.00532	0.13618	T	0.198	0.48105	0.347	0.34274	0.29893580763	0.29502	0.6420353445718011	0.64138	0.780703799402	0.65281	0.47560185194	0.35452	T	0.286107	0.65889	T	-0.261735	0.12697	T	-0.613741	0.11684	T	0.577276468276978	0.35514	D	0.755224	0.37818	T	0.23842262	0.46720	0.16112791	0.37495	0.23842262	0.46720	0.16112791	0.37495	-5.937	0.45749	T	0.1721239701419043	0.21735	0.093	0.14293	B	.;.	.;.	3.432015	0.47700	22.5	0.95923980403326381	0.28195	0.99663	0.98459	D	AEFBI	0.868327	0.78841	D	0.223561015791869	0.52343	3.409044	0.378533911314032	0.60244	4.20979	0.999999915080526	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.62	5.62	0.85714	7.671000	0.82936	1.867000	0.29361	0.663000	0.56723	1.000000	0.71638	0.998000	0.33993	0.992000	0.67800	0.0:0.0:0.0:1.0	15.826	0.78484	641	0.64016	.;.	.	.	.	.	.	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	547.63	28	chr22	30942246	.	T	C	547.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.61;DP=223;ExcessHet=0;FS=2.511;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.96;ReadPosRankSum=-0.572;SOR=0.33	GT:AD:DP:GQ:PL	0/1:32,23:55:99:558,0,887	6	0	1	0
chr22	31126004	31126004	G	T	exonic	INPP5J	.	nonsynonymous SNV	INPP5J:NM_001284285:exon2:c.G1265T:p.G422V,INPP5J:NM_001284286:exon3:c.G1064T:p.G355V,INPP5J:NM_001284288:exon3:c.G164T:p.G55V,INPP5J:NM_001284289:exon4:c.G164T:p.G55V	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.602	0.668935519461	.	.	0.0008	0.0001	9.051e-05	0	0.0065	0.0006	0.0052	9.448e-05	0.0005563	86	154602	rs769991803	0.0004	0.0004	0.0004	0.0004	0.0005	0.0003	0.0003	0.0002	0.0002	0	0.0001	0	0	0.0060	0.0005	0.0002	0.0005	0.0001	0.0006	0.0006	0.0004	0.0008	0.0002	0.0005	0.0005	0.0001	9.899e-05	4.813e-05	0	0.0002	0	0	0.0066	0	0.0002	0.0009	0	0.003	0.72154	D	0.111	0.37173	T	1.0	0.90584	D	0.998	0.88582	D	0.083697	0.20739	N	0.502361	0.999998	0.81001	D	1.75	0.45442	L	-3.71	0.95387	D	-1.11	0.30346	N	0.598	0.64223	1.011	0.97377	D	0.918	0.97274	D	9	0.011331558	0.00248	T	0.668936	0.97234	D	0.602	0.84291	.	.	0.926601714798	0.92585	0.7253400777617266	0.72478	.	.	0.479367613792	0.35969	T	0.026992	0.19862	T	0.113003	0.65661	D	0.242617	0.85272	D	0.0437805722068796	0.04381	T	0.79842	0.44325	T	0.22042225	0.44597	0.19506148	0.43162	0.22042225	0.44597	0.19506148	0.43161	-8.611	0.65162	D	.	.	0.223	0.50204	B	.;.;.;.	.;.;.;.	4.798661	0.77943	26.8	0.9937660487851776	0.61671	0.94903	0.62730	D	AEFDBI	0.529243	0.55043	D	0.493508569699589	0.66709	4.985403	0.451989692661557	0.64844	4.749236	0.999998803322136	0.74766	0.646311	0.45356	0	0.573888	0.26702	0	0.645312	0.48771	0	0.586402	0.36253	0	.	.	4.67	4.67	0.58089	2.746000	0.47143	11.651000	0.93884	0.676000	0.76740	0.998000	0.41325	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	14.677	0.68598	624	0.65661	Inositol polyphosphate-related phosphatase;Inositol polyphosphate-related phosphatase;.;.	.	.	.	.	.	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	623.49	28	chr22	31126004	.	G	T	623.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.82;DP=245;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.99;ReadPosRankSum=0.275;SOR=0.732	GT:AD:DP:GQ:PL	0/1:27,25:52:99:634,0,694	6	0	1	0
chr22	31621364	31621364	T	C	exonic	PISD	.	nonsynonymous SNV	PISD:NM_001326418:exon4:c.A487G:p.M163V,PISD:NM_001326420:exon4:c.A487G:p.M163V,PISD:NM_001326411:exon5:c.A667G:p.M223V,PISD:NM_001326412:exon5:c.A604G:p.M202V,PISD:NM_001326413:exon5:c.A604G:p.M202V,PISD:NM_001326421:exon5:c.A667G:p.M223V,PISD:NM_178022:exon5:c.A565G:p.M189V,PISD:NM_001326414:exon6:c.A604G:p.M202V,PISD:NM_001326415:exon6:c.A565G:p.M189V,PISD:NM_014338:exon6:c.A565G:p.M189V,PISD:NM_001326417:exon7:c.A565G:p.M189V,PISD:NM_001326419:exon7:c.A565G:p.M189V,PISD:NM_001326416:exon8:c.A565G:p.M189V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.0024506238185	0.0002	0.000199681	5.77e-05	0	0	0	0	6e-05	0	0.0002	5.17e-05	8	154602	rs143378500	4.515e-05	4.515e-05	4.22e-05	4.813e-05	0.0010	3.641e-05	3.322e-05	0.0005	0.0003	0	4.472e-05	0.0007	0	0	0.0010	2.068e-05	0.0001	0.0001	3.284e-05	3.281e-05	2.57e-05	4.03e-05	0.0002	1.26e-05	7.98e-06	4.88e-06	1.83e-06	0	0	0	0.0006	0	0	0	2.941e-05	0	0.0002	0.502	0.13349	T	0.358	0.18675	T	0.0	0.02946	B	0.005	0.11217	B	0.018370	0.27499	N	0.426424	1	0.08975	N	-0.28	0.03718	N	.	.	.	0.06	0.06253	N	0.118	0.10769	-0.9953	0.31218	T	0.032	0.13811	T	9	0.014630556	0.00307	T	0.002451	0.04840	T	0.015	0.02232	.	.	0.117191471859	0.11215	0.12038189392100544	0.11965	0.304447295284	0.32750	0.339252829552	0.16326	T	0.002577	0.33183	T	-0.298849	0.08770	T	-0.464398	0.26123	T	0.0167937160221627	0.00434	T	0.125887	0.01092	T	0.043067172	0.06646	0.039698876	0.04121	0.043067172	0.06646	0.039698876	0.04121	-0.148	0.00442	T	0.07568659834436826	0.03392	0.058	0.01271	B	.;.;.;.;.	.;.;.;.;.	0.258786	0.06375	2.839	0.55455360542121979	0.05346	0.22725	0.21842	N	AEFDBHCI	0.117688	0.23043	N	-1.3521908223758	0.03102	0.1380443	-1.29166721957775	0.04542	0.2144981	0.999954608521251	0.48110	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	5.47	0.822	0.17944	0.749000	0.25985	-0.071000	0.12298	-0.133000	0.13014	0.000000	0.06391	0.000000	0.08366	0.291000	0.24285	0.0:0.2807:0.0:0.7193	9.533	0.38370	118	0.95237	.;.;.;.;.	.	.	.	.	.	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	0	0	.	.	.	.	.	.	.	.	0.07143	742.46	26	chr22	31621364	.	T	C	742.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.96;DP=230;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.98;ReadPosRankSum=-0.853;SOR=0.693	GT:AD:DP:GQ:PL	0/1:32,30:62:99:753,0,698	6	0	1	0
chr22	31715929	31715929	C	A	exonic	PRR14L	.	nonsynonymous SNV	PRR14L:NM_173566:exon4:c.G1910T:p.C637F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.0279922426613	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.44	0.09264	T	0.685	0.06014	T	0.85	0.46913	P	0.325	0.41883	B	0.603263	0.10938	N	0.798245	1	0.08975	N	0.805	0.20218	L	3.35	0.05989	T	-2.37	0.52289	N	0.206	0.22870	-1.0804	0.07272	T	0.016	0.06569	T	9	0.10416326	0.19189	T	0.027992	0.50729	D	0.102	0.29158	0.526	0.63115	0.043077524339	0.03247	0.07517504430761483	0.07453	0.144073809953	0.16265	0.256230115891	0.04452	T	0.036918	0.24283	T	-0.253759	0.13640	T	-0.602284	0.12620	T	0.180756588116877	0.19282	T	0.59464	0.22023	T	0.13919486	0.32163	0.120248936	0.29021	0.13919486	0.32163	0.120248936	0.29021	-3.53	0.16854	T	.	.	0.087	0.11317	B	.	.	-0.380705	0.02285	0.239	0.59705536658378744	0.06287	0.09699	0.15396	N	AEFDBCI	0.099230	0.19978	N	-0.650719047044948	0.17440	0.8974071	-0.845087023949013	0.13405	0.6952512	0.992074189097361	0.32709	0.722319	0.85440	0	0.724815	0.89359	0	0.575934	0.27490	0	0.735409	0.98432	0	.	.	5.4	-5.88	0.02100	-1.229000	0.03054	-2.280000	0.03957	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.939000	0.47918	0.0:0.3467:0.3285:0.3248	6.626	0.22024	155	0.93937	.	.	.	.	.	.	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	1746.44	37	chr22	31715929	.	C	A	1746.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.341;DP=347;ExcessHet=0;FS=0.608;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.8;ReadPosRankSum=0.298;SOR=0.77	GT:AD:DP:GQ:PL	0/1:79,69:148:99:1757,0,2048	6	0	1	0
chr22	36227655	36227655	C	A	exonic	APOL2	.	stopgain	APOL2:NM_030882:exon5:c.G763T:p.E255X,APOL2:NM_145637:exon6:c.G763T:p.E255X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.638208	0.05852	N	1.186950	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.055	0.02658	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.244707	0.78104	D	0.113728	0.77818	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;Recessive	.;.;High	4.700427	0.75409	26.3	0.96897571075513667	0.31523	0.01732	0.05474	N	AEFDBHI	0.031705	0.03443	N	-0.314676139406015	0.28589	1.578193	-0.688775489018297	0.17240	0.9158465	0.998919003679291	0.37962	0.67177	0.52595	0	0.697927	0.68747	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	3.82	0.094	0.13789	-0.406000	0.07249	-20.000000	0.00162	-0.381000	0.05390	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1956:0.1179:0.202:0.4845	0.853	0.01101	615	0.66512	.;.;.	.	.	.	.	.	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	630.24	177	chr22	36227655	.	C	A	630.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-5.44;DP=960;ExcessHet=0.3476;FS=113.24;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=1.02;ReadPosRankSum=0.161;SOR=9.967	GT:AD:DP:GQ:PL	0/1:283,60:343:99:308,0,7663	5	0	2	0
chr22	36265782	36265782	G	T	exonic	APOL1	.	stopgain	APOL1:NM_001136541:exon5:c.G892T:p.E298X,APOL1:NM_001362927:exon5:c.G892T:p.E298X,APOL1:NM_001136540:exon6:c.G946T:p.E316X,APOL1:NM_003661:exon6:c.G946T:p.E316X,APOL1:NM_145343:exon7:c.G994T:p.E332X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.617745	0.05738	N	1.200530	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.79	0.78737	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.299787	0.82950	D	0.192847	0.82730	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;Tolerant;.	.;.;.;High;.	5.111238	0.85445	28.6	0.94747486642744438	0.25445	0.01550	0.05082	N	AEFDBI	0.051060	0.08984	N	-0.28464942149091	0.29742	1.651984	-0.709861734847565	0.16715	0.8855342	0.64071294737418	0.22051	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.567339	0.31927	0	.	.	3.18	-2.28	0.06438	-1.743000	0.01933	-20.000000	0.00162	-0.266000	0.06809	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4028:0.0:0.402:0.1951	3.413	0.06937	489	0.76795	.;.;.;.;.	.	.	.	.	.	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	608.44	87	chr22	36265782	.	G	T	608.44	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-1.921;DP=653;ExcessHet=0.3476;FS=168.125;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=2.58;ReadPosRankSum=1.23;SOR=8.015	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:115,34:149:99:0|1:36265782_G_T:282,0,2922:36265782	5	0	2	0
chr22	37070952	37070952	G	A	exonic	TMPRSS6	.	nonsynonymous SNV	TMPRSS6:NM_001289000:exon14:c.C1636T:p.P546S,TMPRSS6:NM_001289001:exon14:c.C1636T:p.P546S,TMPRSS6:NM_001374504:exon14:c.C1636T:p.P546S,TMPRSS6:NM_153609:exon14:c.C1636T:p.P546S	Iron-refractory iron deficiency anemia, Autosomal recessive	1	1492	26	3	0	32	0.0106101	.	.	.	352533	Microcytic_anemia|not_provided	Human_Phenotype_Ontology:HP:0001935,MONDO:MONDO:0001245,MedGen:C5194182|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.249	.	0.0048	0.0277556	0.0140	0.0160	0.0011	0.0019	0	0.0001	0.0114	0.0885	0.0121991	1886	154602	rs78174698	0.0057	0.0057	0.0036	0.0079	0.0832	0.0056	0.0056	0.0816	0.0809	0.0152	0.0013	0	0.0013	0	0.0047	9.802e-05	0.0075	0.0832	0.0077	0.0077	0.0067	0.0087	0.0892	0.0073	0.0072	0.0822	0.0795	0.0155	0	0.0035	0	0.0027	0	0.0068	0.0001	0.0080	0.0892	0.688	0.08310	T	0.928	0.03205	T	0.003	0.12183	B	0.008	0.13708	B	0.353618	0.13778	N	0.714557	1	0.08975	N	0.52	0.13579	N	-3.73	0.95458	D	-0.93	0.25551	N	0.136	0.13341	-0.3909	0.72313	T	0.629	0.86993	D	10	0.009992182	0.00224	T	.	.	.	0.249	0.55752	.	.	.	.	0.4235261681190472	0.42269	0.169202251842	0.19074	0.282677292824	0.07868	T	0.146743	0.48449	T	-0.488045	0.00666	T	-0.407012	0.32569	T	0.000516475392704065	0.00004	T	0.831917	0.49916	T	0.024491193	0.01285	0.046829663	0.06612	0.026203772	0.01648	0.055605717	0.09786	-4.731	0.35123	T	.	.	0.081	0.08368	B	.;.;.;.	.;.;.;.	0.104687	0.05055	1.598	0.70024391689516474	0.09161	0.13129	0.17679	N	AEFDBI	0.321059	0.42397	N	-0.974832172869314	0.09144	0.4315332	-0.978446037131662	0.10270	0.5161642	0.181565704610847	0.17878	0.549168	0.22868	0	0.627178	0.54094	0	0.61531	0.40942	0	0.616125	0.45549	0	.	.	4.92	2.79	0.31792	-0.067000	0.11538	0.878000	0.22371	0.674000	0.70861	0.000000	0.06391	0.000000	0.08366	0.072000	0.16771	0.0792:0.4043:0.5165:0.0	9.779	0.39806	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	0.015136	0.005051	0.009511	0.008824	0.000000	0.008621	0.003067	0.034091	0.07143	826.53	33	chr22	37070952	.	G	A	826.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.567;DP=239;ExcessHet=0;FS=7.73;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.17;ReadPosRankSum=1.5;SOR=1.237	GT:AD:DP:GQ:PL	0/1:39,35:74:99:837,0,968	6	0	1	0
chr22	39025602	39025602	C	A	exonic	APOBEC3D	.	nonsynonymous SNV	APOBEC3D:NM_152426:exon4:c.C536A:p.P179Q	.	385	1120	17	0	0	17	0.00753212	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.134	.	0.0038	0.00459265	0.0066	0.0009	0.0014	0	0.0038	0.0070	0.0044	0.0168	0.0060219	931	154602	rs190831871	0.0052	0.0052	0.0049	0.0055	0.0170	0.0051	0.0051	0.0163	0.0160	0.0007	0.0014	0.0068	7.557e-05	0.0034	0.0042	0.0048	0.0048	0.0170	0.0037	0.0037	0.0039	0.0034	0.0181	0.0034	0.0033	0.0150	0.0139	0.0009	0	0.0010	0.0084	0.0002	0.0046	0	0.0049	0.0033	0.0181	0.149	0.24758	T	0.366	0.16668	T	0.0	0.02946	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	1.435	0.35949	L	-0.02	0.62918	T	-1.36	0.33798	N	0.132	0.12770	-1.0566	0.12621	T	0.113	0.40238	T	9	0.00964433	0.00217	T	.	.	.	0.134	0.36365	.	.	0.0138822411134	0.00435	0.1638965312774758	0.16309	0.0472017422713	0.05146	0.321958512068	0.13718	T	0.039816	0.25318	T	-0.54426	0.00316	T	-0.541595	0.18141	T	0.00349210116851388	0.00037	T	0.479552	0.14466	T	0.026261639	0.01662	0.04122633	0.04637	0.026261639	0.01662	0.04122633	0.04637	-7.492	0.57554	T	.	.	0.096	0.15385	B	.;.	.;.	-1.183666	0.00547	0.013	0.27355409658577745	0.01354	0.00604	0.02691	N	AEFGBI	0.031941	0.03514	N	-1.89761463987172	0.00347	0.0149104	-2.06420274573492	0.00223	0.009823239	0.999999990443082	0.74766	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	2.44	-4.88	0.02884	-1.897000	0.01694	-14.230000	0.00414	-1.087000	0.01546	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5377:0.1425:0.3197:0.0	8.394	0.31705	350	0.85473	.;APOBEC-like, 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	0.003021	0.000000	0.000000	0.000000	0.000000	0.008621	0.012195	0.003788	0.07143	4698.44	33	chr22	39025602	.	C	A	4698.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.147;DP=622;ExcessHet=0;FS=0.52;MLEAC=1;MLEAF=0.071;MQ=59.98;MQRankSum=-1.072;QD=11.21;ReadPosRankSum=-0.064;SOR=0.737	GT:AD:DP:GQ:PL	0/1:225,194:419:99:4709,0,5563	6	0	1	0
chr22	40777114	40777114	T	C	exonic	SLC25A17	.	nonsynonymous SNV	SLC25A17:NM_001282727:exon5:c.A400G:p.I134V,SLC25A17:NM_006358:exon7:c.A619G:p.I207V,SLC25A17:NM_001282726:exon8:c.A508G:p.I170V	.	428	1085	9	0	0	9	0.00413034	.	.	.	2371301	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.160	0.00789452148917	0.0014	.	0.0011	9.649e-05	0.0002	0	0	0.0016	0	0.0016	0.0010414	161	154602	rs137901231	0.0010	0.0010	0.0010	0.0011	0.0031	0.0010	0.0010	0.0020	0.0017	0.0002	0.0004	0.0042	0	5.616e-05	0.0031	0.0010	0.0012	0.0015	0.0007	0.0007	0.0008	0.0006	0.0012	0.0006	0.0006	0.0010	0.0009	9.63e-05	0	0.0004	0.0043	0	0	0	0.0012	0.0014	0.0010	1.0	0.02061	T	0.595	0.08079	T	0.0	0.02946	B	0.002	0.06944	B	0.007057	0.31632	N	0.391931	0.563289	0.32231	D	0	0.06538	N	-1.29	0.79475	T	-0.16	0.09460	N	0.091	0.06990	-0.9162	0.46063	T	0.171	0.51165	T	10	0.009247631	0.00209	T	0.007895	0.20929	T	0.160	0.41473	.	.	0.40218521252	0.39833	0.3592612947201606	0.35840	0.143840373198	0.16248	0.384690880775	0.22920	T	0.068429	0.34184	T	-0.411672	0.01938	T	-0.394194	0.34062	T	0.0030759433623681	0.00032	T	0.743726	0.43180	T	0.017542277	0.00282	0.031532098	0.01756	0.017542277	0.00282	0.031532098	0.01755	-4.184	0.26519	T	.	.	0.068	0.06525	B	.;.;.	.;.;.	1.047176	0.14282	10.86	0.64023659727302473	0.07380	0.18342	0.20221	N	AEFBI	0.098169	0.19787	N	-0.884407868188073	0.11213	0.5399018	-0.730510836240321	0.16203	0.8560009	0.0640460635558164	0.15317	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.65	-0.344	0.12001	-0.067000	0.11538	-0.386000	0.09508	0.665000	0.62972	0.812000	0.29879	0.209000	0.23629	0.997000	0.79791	0.0:0.3821:0.1171:0.5008	7.581	0.27130	245	0.90404	.;.;.	.	.	.	.	.	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	0.003024	0.005102	0.004076	0.000000	0.000000	0.000000	0.012195	0.000000	0.07143	1634.63	35	chr22	40777114	.	T	C	1634.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.912;DP=327;ExcessHet=0;FS=3.847;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.97;ReadPosRankSum=1.52;SOR=1.032	GT:AD:DP:GQ:PL	0/1:76,73:149:99:1645,0,1827	6	0	1	0
chr22	42128812	42128812	A	G	exonic	CYP2D6;CYP2D7	.	nonsynonymous SNV	CYP2D6:NM_001025161:exon3:c.T485C:p.L162P,CYP2D6:NM_000106:exon4:c.T638C:p.L213P	.	1	1317	204	0	0	204	0.0718816	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.557	0.0602619546016	.	.	0.0034	0.0012	0.0015	0.0014	0.0018	0.0047	0.0040	0.0021	0.0023544	364	154602	rs199535154	0.0003	0.0094	0.0003	0.0003	0.0022	0.0002	0.0002	0.0013	0.0011	0.0015	0.0003	0.0004	0.0006	0.0006	0.0022	0.0002	0.0003	0.0003	0.0001	0.0016	6.523e-05	0.0002	0.0004	7.691e-05	6.376e-05	0.0001	8.654e-05	0.0002	0	0	0	0.0004	0	0	0.0001	0	0	0.016	0.72154	D	0.004	0.74150	D	.	.	.	.	.	.	0.079050	0.21007	N	0.393637	0.984414	0.40142	D	3.135	0.88152	M	-1.43	0.80730	T	-5.73	0.87611	D	0.817	0.81261	0.414	0.89311	D	0.663	0.88295	D	10	0.12101528	0.22933	T	0.060262	0.67943	D	0.557	0.81774	.	.	0.906819982349	0.90588	0.8191287958858098	0.81869	0.67802315983	0.59861	0.312496066093	0.12283	T	0.044594	0.40051	T	0.029515	0.55659	T	0.219179	0.84132	D	0.250423282384872	0.22892	T	0.739826	0.35853	T	0.5728783	0.71218	0.38634163	0.63529	0.5728783	0.71219	0.38634163	0.63529	-9.555	0.71201	D	.	.	0.479	0.69738	A	.;.;.;.;.	.;.;.;.;.	3.184167	0.43231	21.7	0.99267575361889293	0.57423	0.11286	0.16533	N	AEFDBI	0.398871	0.47438	N	0.0379738385441093	0.43589	2.64896	-0.230169009795182	0.30461	1.715271	5.06273264100705E-4	0.07176	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.604944	0.38103	0	.	.	3.52	3.52	0.39415	2.920000	0.48541	1.949000	0.29874	-0.094000	0.16080	0.013000	0.18845	0.000000	0.08366	0.000000	0.00833	1.0:0.0:0.0:0.0	8.696	0.33455	106	0.95650	.;.;.;.;.	.	.	.	.	.	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	0.018182	0.005747	0.016484	0.050420	0.000000	0.043860	0.003546	0.004065	0.3571	2310.13	116	chr22	42128812	.	A	G	2310.13	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-0.178;DP=771;ExcessHet=4.7409;FS=10.746;MLEAC=5;MLEAF=0.357;MQ=51.48;MQRankSum=-5.697;QD=3.19;ReadPosRankSum=-4.081;SOR=1.758	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:155,12:167:37:0|1:42128812_A_G:37,0,6453:42128812	2	0	5	0
chr22	43129229	43129246	TGCTGCTGGCGCTGCTGC	-	exonic	BIK	.	nonframeshift deletion	BIK:NM_001197:exon5:c.407_424del:p.L143_L148del	.	0	221	5	0	0	5	0.0111857	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0160	.	0.0063	0.0116	0.0069	0.0018	0.0039	0.0049	0.0125	0.0115	0.0001921	5	26028	rs759887547	0.0048	0.0048	0.0044	0.0052	0.0276	0.0047	0.0047	0.0239	0.0226	0.0134	0.0084	0.0224	0.0017	0.0047	0.0276	0.0032	0.0079	0.0127	0.0077	0.0078	0.0078	0.0076	0.0122	0.0073	0.0072	0.0113	0.0110	0.0122	0	0.0118	0.0228	0.0019	0.0041	0.0442	0.0040	0.0099	0.0102	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	472.59	34	chr22	43129228	.	GTGCTGCTGGCGCTGCTGC	G	472.59	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.08;DP=288;ExcessHet=0;FS=4.506;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.59;ReadPosRankSum=1.32;SOR=1.595	GT:AD:DP:GQ:PL	0/1:40,15:55:99:483,0,1597	6	0	1	0
chr22	50482580	50482580	C	T	exonic	ADM2	.	nonsynonymous SNV	ADM2:NM_001369882:exon2:c.C124T:p.R42W,ADM2:NM_001253845:exon3:c.C124T:p.R42W	.	.	.	.	.	.	.	.	.	.	.	3242289	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.016	0.0151051304523	.	0.000199681	0.0001	0	0.0024	0	0	0	0	0	1.94e-05	3	154602	rs537506034	1.449e-05	1.779e-05	1.186e-05	1.726e-05	0.0001	9.26e-06	7.47e-06	3.67e-05	1.889e-05	3.488e-05	0.0001	0	8.481e-05	0	0	1.156e-05	0	0	2.626e-05	2.624e-05	1.285e-05	4.027e-05	4.411e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	2.405e-05	0	0	0	0	0	0	4.411e-05	0	0	0.067	0.35918	T	0.055	0.46862	T	0.002	0.09854	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	0.46	0.12951	N	.	.	.	-1.6	0.38540	N	0.065	0.20395	-1.0162	0.24948	T	0.039	0.16763	T	8	0.007292539	0.00166	T	0.015105	0.35650	T	0.016	0.02506	.	.	0.0297737177859	0.01360	0.2620307681816283	0.26116	0.0573012449885	0.06345	0.557021856308	0.46847	T	0.003098	0.02504	T	-0.298207	0.08829	T	-0.66613	0.07858	T	0.0453153217413652	0.04659	T	0.646135	0.25753	T	0.05417521	0.10359	0.054455932	0.09369	0.05417521	0.10359	0.054455932	0.09368	-4.482	0.30652	T	.	.	0.088	0.12084	B	.;.	.;.	0.806880	0.11777	8.350	0.9388742042648015	0.23908	0.04888	0.10633	N	AEFDBHCIJ	0.122088	0.23706	N	-1.20901325712908	0.04867	0.2206152	-1.25433133581774	0.05067	0.2405754	0.99999359462027	0.74766	0.65757	0.49021	0	0.588066	0.40923	0	0.619478	0.44681	0	0.562822	0.20929	0	.	.	4.62	-4.32	0.03433	-2.607000	0.00961	-1.754000	0.04787	0.519000	0.23678	0.000000	0.06391	0.000000	0.08366	0.288000	0.24212	0.144:0.3536:0.0:0.5024	5.269	0.14930	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	.	.	.	.	.	.	.	.	0.07143	1183.53	30	chr22	50482580	.	C	T	1183.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.01;DP=236;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=17.15;ReadPosRankSum=0.851;SOR=0.737	GT:AD:DP:GQ:PL	0/1:24,45:69:99:1194,0,487	6	0	1	0
chrX	3323097	3323097	A	G	exonic	MXRA5	.	nonsynonymous SNV	MXRA5:NM_015419:exon5:c.T2588C:p.M863T	.	431	1088	2	1	0	4	0.00183486	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.0145978368337	9.5e-05	0.000264901	0.0005	0	0.0001	0	0	0.0001	0	0.0040	0.0005175	80	154602	rs373025245	0.0003	0.0003	0.0002	0.0004	0.0040	0.0002	0.0002	0.0036	0.0034	3.787e-05	0.0003	0	0	0	0.0019	4.987e-05	0.0002	0.0040	0.0001	0.0002	0.0001	0.0002	0.0034	8.965e-05	7.243e-05	0.0018	0.0013	0	0	0.0002	0	0	0	0	7.525e-05	0.0007	0.0034	0.368	0.11623	T	0.405	0.14771	T	0.0	0.02946	B	0.0	0.01387	B	0.115839	0.02681	N	2.067570	1	0.08975	N	0	0.06538	N	0.13	0.60973	T	-0.74	0.20791	N	0.013	0.00142	-1.0527	0.13655	T	0.078	0.31012	T	10	0.005004823	0.00108	T	0.014598	0.34823	T	0.047	0.12962	.	.	0.286465849087	0.28247	0.3793392701731815	0.37848	0.0713716190818	0.07990	0.260423004627	0.04940	T	3.12E-4	0.00083	T	-0.746365	0.00019	T	-0.845716	0.01016	T	0.00624238224621952	0.00069	T	0.374863	0.08927	T	0.053816892	0.10237	0.103302434	0.24781	0.053816892	0.10237	0.103302434	0.24781	-1.647	0.02094	T	.	.	0.088	0.11845	B	.	.	-1.542659	0.00270	0.004	0.17313755133539535	0.00500	0.00190	0.01102	N	AEFBI	.	.	.	.	.	.	.	.	.	0.927523827774459	0.26892	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.63	-7.27	0.01312	-0.513000	0.06389	-2.277000	0.03961	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.1284:0.3515:0.4019:0.1183	4.361	0.10637	1000	0.00083	.	.	.	.	.	.	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	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	2399.44	80	chrX	3323097	.	A	G	2399.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.214;DP=593;ExcessHet=0;FS=1.079;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.7;ReadPosRankSum=1.75;SOR=0.798	GT:AD:DP:GQ:PL	0/1:104,101:205:99:2410,0,2486	6	0	1	0
chrX	8466027	8466027	C	G	exonic	VCX3B	.	nonsynonymous SNV	VCX3B:NM_001001888:exon3:c.C385G:p.Q129E	.	766	722	22	8	4	42	0.025641	.	.	.	2349531	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.008	0.000998444815749	.	.	0.0008	0	0.0021	0	0	0.0010	0	0	3.84e-05	1	26028	rs5978241	0.0016	0.0020	0.0023	0.0003	0.0025	0.0015	0.0014	0.0017	0.0017	0.0006	0.0016	0.0007	0.0008	0.0016	0.0025	0.0019	0.0022	0.0005	0.0026	0.0033	0.0029	0	0.0033	0.0022	0.0020	0.0027	0.0024	0.0017	0.0165	0.0027	0	0.0020	0	0	0.0033	0.0042	0.0021	0.487	0.10623	T	1.0	0.01155	T	0.013	0.16609	B	0.006	0.12133	B	.	.	.	.	1	0.08975	N	-0.205	0.04094	N	2.35	0.18570	T	-0.58	0.17417	N	0.035	0.01135	-0.9479	0.41330	T	0.027	0.11529	T	9	0.0039381087	0.00075	T	9.98E-4	0.01073	T	0.008	0.00669	.	.	0.0297737177859	0.01360	0.0016663777962670748	0.00154	0.990275075807	0.74039	0.453882277012	0.32475	T	2.49E-4	0.00052	T	-0.95742	0.00000	T	-1.15297	0.00008	T	0.0051742822749193	0.00056	T	0.472453	0.14032	T	0.052864067	0.09920	0.06279685	0.12340	0.052864067	0.09919	0.06279685	0.12339	-3.433	0.15504	T	.	.	0.036	0.00007	B	.;.;.	.;.;.	-1.593200	0.00243	0.004	0.10818492738913132	0.00146	0.00067	0.00479	N	AEFI	.	.	.	.	.	.	.	.	.	0.0621396808089444	0.15254	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.883	-1.77	0.07551	-7.145000	0.00054	-4.258000	0.02253	-4.194000	0.00038	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.2515:0.58:0.1685	6.078	0.19150	1000	0.00083	.;.;.	.	.	.	.	.	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	0.025316	0.071429	0.014663	0.008850	0.000000	0.016667	0.037383	0.043860	0.1	201.21	11	chrX	8466027	.	C	G	201.21	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-1.735;DP=170;ExcessHet=0;FS=2.753;MLEAC=1;MLEAF=0.1;MQ=43.3;MQRankSum=1.33;QD=3.05;ReadPosRankSum=-4.163;SOR=0.36	GT:AD:DP:GQ:PL	0/1:51,15:66:99:210,0,1355	4	0	1	2
chrX	10469688	10469688	G	A	exonic	MID1	.	nonsynonymous SNV	MID1:NM_001193279:exon6:c.C1294T:p.L432F,MID1:NM_001193280:exon6:c.C1180T:p.L394F,MID1:NM_001193278:exon7:c.C1447T:p.L483F	Opitz GBBB syndrome, type I, X-linked recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.822e-06	1.821e-06	1.361e-06	2.752e-06	1.847e-05	3e-07	1.1e-07	.	.	0	0	0	0	0	0	1.188e-06	0	1.847e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.26306	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.06	0.03175	.	.	.	.	.	.	.	0.049869597	0.04636	T	.	.	.	.	.	.	.	0.228066490088	0.22430	.	.	.	.	.	.	.	0.006829	0.06256	T	-0.218282	0.18229	T	-0.551324	0.17198	T	.	.	.	0.334067	0.07092	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.144	0.31708	B	.	.	1.071713	0.14539	11.11	0.85981199067195402	0.16236	0.02091	0.06209	N	AEFBI	.	.	.	.	.	.	.	.	.	0.999612355279754	0.40981	.	.	.	.	.	.	.	.	.	.	.	.	0.283609	0.34178	4.85	0.652	0.16995	0.121000	0.15496	0.832000	0.21958	0.676000	0.76740	0.066000	0.21956	0.096000	0.22607	0.995000	0.73285	0.4727:0.0:0.3766:0.1507	5.068	0.13928	505	0.75648	.	.	.	.	.	.	Uncertain significance	0	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	.	.	.	.	.	.	.	.	0.2857	1454.59	107	chrX	10469688	.	G	A	1454.59	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-3.944;DP=533;ExcessHet=2.5225;FS=171.116;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=3.13;ReadPosRankSum=0.953;SOR=9.383	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:110,50:160:99:0|1:10469688_G_A:853,0,3071:10469688	3	0	4	0
chrX	10469690	10469690	T	C	exonic	MID1	.	nonsynonymous SNV	MID1:NM_001193279:exon6:c.A1292G:p.Y431C,MID1:NM_001193280:exon6:c.A1178G:p.Y393C,MID1:NM_001193278:exon7:c.A1445G:p.Y482C	Opitz GBBB syndrome, type I, X-linked recessive	.	.	.	.	.	.	.	0.0842	0.246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.0089	0.0017	0	0.0014	0.0011	0.0011	0.0013	0.0013	0.0011	5.717e-05	0.0005	0.0003	0	0	0.0014	0.0011	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.69154	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.611	0.62781	.	.	.	.	.	.	.	0.5160695	0.62373	D	.	.	.	.	.	.	.	0.702451314445	0.69986	.	.	.	.	.	.	.	0.029078	0.20915	T	-0.0458167	0.45080	T	-0.303589	0.44343	T	.	.	.	0.416058	0.10924	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	0.48469	B	.	.	1.822216	0.23154	15.91	0.93045119261725329	0.22651	0.71697	0.35125	D	AEFBI	.	.	.	.	.	.	.	.	.	0.99999824567079	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	0.483522	0.39157	5.6	5.6	0.84997	3.630000	0.54014	4.911000	0.45953	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0763:0.0:0.9237	10.887	0.46181	505	0.75648	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.2143	1325.05	107	chrX	10469690	.	T	C	1325.05	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-3.2;DP=534;ExcessHet=1.1394;FS=164.992;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=3.29;ReadPosRankSum=0.784;SOR=9.346	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:110,50:160:99:0|1:10469688_G_A:853,0,3071:10469688	4	0	3	0
chrX	10469693	10469693	T	C	exonic	MID1	.	nonsynonymous SNV	MID1:NM_001193279:exon6:c.A1289G:p.E430G,MID1:NM_001193280:exon6:c.A1175G:p.E392G,MID1:NM_001193278:exon7:c.A1442G:p.E481G	Opitz GBBB syndrome, type I, X-linked recessive	.	.	.	.	.	.	.	1.0000	0.956	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0024	0.0002	0	0.0002	0.0001	0.0001	0.0002	0.0002	0.0001	0	0.0002	0	0	0	0.0002	0.0002	3.742e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.153	0.32144	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.203	0.22486	.	.	.	.	.	.	.	0.24297184	0.41502	T	.	.	.	.	.	.	.	0.747603607226	0.74533	.	.	.	.	.	.	.	0.021315	0.16623	T	0.0253054	0.55096	T	-0.201427	0.54511	T	.	.	.	0.294771	0.05441	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.188	0.40457	B	.	.	5.344784	0.89672	31	0.96935891014238906	0.31676	0.98570	0.84213	D	AEFBI	.	.	.	.	.	.	.	.	.	0.999999999998814	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	0.899241	0.56623	5.6	5.6	0.84997	7.515000	0.80659	7.688000	0.65646	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	14.867	0.70064	505	0.75648	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.2857	659.6	107	chrX	10469693	.	T	C	659.6	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-4.447;DP=534;ExcessHet=2.5225;FS=147.291;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=1.43;ReadPosRankSum=0.711;SOR=9.19	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:120,39:159:43:0|1:10469688_G_A:43,0,3972:10469688	3	0	4	0
chrX	20116843	20116843	G	A	exonic	MAP7D2	.	nonsynonymous SNV	MAP7D2:NM_001168465:exon1:c.C37T:p.R13W,MAP7D2:NM_001168466:exon1:c.C37T:p.R13W,MAP7D2:NM_152780:exon1:c.C37T:p.R13W	.	433	1088	1	0	0	1	0.000459348	.	.	.	1196345	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.254	0.916564294563	.	0.000264901	5.456e-05	0	0	0	0	0.0001	0	0	5.17e-05	8	154602	rs200047348	0.0001	0.0001	0.0001	0.0002	0.0026	0.0001	0.0001	0.0014	0.0011	0	0	0	0	0	0.0026	0.0002	0.0002	6.233e-05	0.0002	0.0002	0.0002	0.0001	0.0003	0.0001	0.0001	0.0002	0.0002	6.442e-05	0	9.217e-05	0	0	0	0.0140	0.0003	0.0006	0	0.003	0.91255	D	0.014	0.63109	D	0.988	0.65571	D	0.265	0.46205	B	0.737976	0.09800	N	0.819880	1	0.08975	N	0	0.06538	N	-2.05	0.85799	D	-1.92	0.45222	N	0.231	0.30574	-0.6849	0.61146	T	0.331	0.69868	T	10	0.14458066	0.27436	T	0.916564	0.99382	D	0.254	0.56428	.	.	0.622495819891	0.61943	0.3022768229661635	0.30140	0.125427775553	0.14139	0.734395503998	0.72149	T	0.337306	0.70671	T	-0.0809148	0.39565	T	-0.354005	0.38745	T	0.104237642624311	0.12817	T	0.877512	0.59164	D	0.06877185	0.15009	0.08509355	0.19622	0.06877185	0.15009	0.08509355	0.19621	-5.327	0.40209	T	.	.	0.180	0.52185	B	.;.;.	.;.;.	2.031685	0.25824	16.90	0.9922411906051668	0.55994	0.05361	0.11221	N	AEFDBHCIJ	.	.	.	.	.	.	.	.	.	0.999981373434452	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.71	1.84	0.24348	-0.041000	0.12036	0.991000	0.23192	0.612000	0.49041	0.000000	0.06391	0.011000	0.20116	0.139000	0.19909	0.0:0.4098:0.5902:0.0	6.387	0.20767	80	0.96670	.;.;.	.	.	.	.	.	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	0.004944	0.000000	0.007491	0.000000	0.000000	0.000000	0.013889	0.000000	0.07143	797.44	37	chrX	20116843	.	G	A	797.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.624;DP=232;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.29;ReadPosRankSum=0.522;SOR=0.811	GT:AD:DP:GQ:PL	0/1:26,34:60:99:808,0,604	6	0	1	0
chrX	25013147	25013147	G	C	exonic	ARX	.	nonsynonymous SNV	ARX:NM_139058:exon2:c.C848G:p.A283G	Epileptic encephalopathy, early infantile, 1, X-linked recessive;Hydranencephaly with abnormal genitalia, X-linked;Lissencephaly, X-linked 2, X-linked;Mental retardation, X-linked 29 and others, X-linked recessive;Partington syndrome, X-linked recessive;Proud syndrome, X-linked	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.157	0.960679944981	.	.	.	.	.	.	.	.	.	.	.	.	.	rs975587581	9.218e-07	9.105e-07	0	2.824e-06	0.0003	0	0	.	.	0	0	0	0	0	0.0003	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	0.26965	T	0.252	0.23570	T	0.213	0.30041	B	0.033	0.22329	B	0.056870	0.22525	N	0.427515	0.998042	0.22380	N	-0.205	0.04094	N	-2.38	0.88298	D	-1.02	0.26843	N	0.074	0.04790	-0.7392	0.58493	T	0.307	0.67777	T	10	0.29613206	0.47179	T	0.96068	0.99743	D	0.157	0.40909	0.269	0.21735	0.685585876551	0.68289	0.06728479240151776	0.06666	2.05958384172	0.94402	0.914789319038	0.97902	D	0.159861	0.50347	T	-0.244665	0.14759	T	-0.589221	0.13734	T	0.230738654732704	0.21987	T	0.420158	0.11156	T	0.110796876	0.26186	0.09818192	0.23397	0.110796876	0.26185	0.09818192	0.23397	-3.845	0.21478	T	0.13671241348966848	0.14977	0.091	0.13174	B	.	.	1.583202	0.20260	14.66	0.95771519880150136	0.27778	0.39815	0.26297	N	AEFDBHCIJ	.	.	.	.	.	.	.	.	.	0.999999743494467	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.51	2.64	0.30504	1.368000	0.33820	6.066000	0.53214	-1.135000	0.01450	0.817000	0.29947	1.000000	0.68203	0.383000	0.26402	0.1104:0.1699:0.7197:0.0	6.959	0.23768	276	0.89131	.	.	.	.	.	.	Uncertain significance	0	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	.	.	.	.	.	.	.	.	0.07143	2099.53	34	chrX	25013147	.	G	C	2099.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.566;DP=355;ExcessHet=0;FS=6.228;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.35;ReadPosRankSum=1.23;SOR=1.108	GT:AD:DP:GQ:PL	0/1:98,87:185:99:2110,0,2779	6	0	1	0
chrX	47081266	47081266	G	A	exonic	RGN	.	nonsynonymous SNV	RGN:NM_004683:exon2:c.G122A:p.R41Q,RGN:NM_001282849:exon3:c.G122A:p.R41Q,RGN:NM_152869:exon3:c.G122A:p.R41Q	.	.	.	.	.	.	.	.	.	.	.	3472718	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.173	0.0424422695355	.	.	5.709e-05	0	0	0.0008	0	0	0	0	3.23e-05	5	154602	rs781932759	1.093e-05	1.093e-05	1.361e-05	5.51e-06	9.933e-05	5.83e-06	4.6e-06	2.631e-05	1.429e-05	3.79e-05	0	0	9.933e-05	0	0	7.13e-06	4.341e-05	0	1.801e-05	1.742e-05	2.571e-05	0	0.0003	2.99e-06	1.12e-06	.	.	3.28e-05	0	0	0	0.0003	0	0	0	0	0	0.044	0.41096	D	0.139	0.36101	T	1.0	0.90584	D	0.868	0.61700	P	0.000001	0.62929	D	0.058123	0.999971	0.53665	D	2.925	0.84406	M	1.33	0.35031	T	-2.84	0.59873	D	0.237	0.26717	-0.8654	0.50871	T	0.194	0.54754	T	10	0.19124544	0.34802	T	0.042442	0.60467	D	0.173	0.43840	0.681	0.81885	0.245660935333	0.24156	0.7686962105115243	0.76818	0.018125632351	0.01770	0.275402158499	0.06860	T	0.691953	0.91051	D	-0.463675	0.00932	T	-0.587657	0.13869	T	0.359011239307202	0.27370	T	0.754025	0.37642	T	0.4962341	0.66873	0.36520848	0.61874	0.4962341	0.66874	0.36520848	0.61874	-5.411	0.41025	T	.	.	0.110	0.31783	B	.;.;.;.	.;.;.;.	1.823415	0.23168	15.91	0.9772536257289608	0.35585	0.60868	0.31319	D	AEFGBCI	.	.	.	.	.	.	.	.	.	0.999999822101516	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.68	3.9	0.44240	2.677000	0.46558	2.123000	0.30732	-0.129000	0.13216	1.000000	0.71638	0.990000	0.31317	0.297000	0.24428	0.0718:0.0:0.7932:0.1351	10.303	0.42844	2	0.99499	.;SMP-30/Gluconolactonase/LRE-like region;SMP-30/Gluconolactonase/LRE-like region;SMP-30/Gluconolactonase/LRE-like region	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.07143	1309.64	36	chrX	47081266	.	G	A	1309.64	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.31;DP=269;ExcessHet=0;FS=0.729;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.69;ReadPosRankSum=1.18;SOR=0.794	GT:AD:DP:GQ:PL	0/1:61,51:112:99:1320,0,1470	6	0	1	0
chrX	49248860	49248860	C	G	exonic	CCDC22	.	nonsynonymous SNV	CCDC22:NM_014008:exon13:c.C1475G:p.A492G	Ritscher-Schinzel syndrome 2, X-linked recessive	422	1099	1	0	0	1	0.000454752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.171	0.030144194155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.34269	T	0.099	0.38891	T	0.45	0.36066	B	0.154	0.34351	B	0.000000	0.84330	D	0.050779	1	0.81001	D	1.845	0.48678	L	.	.	.	-2.65	0.56787	D	0.456	0.49328	-0.9128	0.46505	T	0.163	0.49930	T	9	0.43909964	0.57985	T	0.030144	0.52519	D	0.171	0.43483	0.553	0.66995	0.422872527889	0.41901	0.23989516607220324	0.23903	0.170301516549	0.19201	0.528756141663	0.42858	T	0.550929	0.84793	D	0.0363487	0.56565	T	-0.185564	0.56004	T	0.918463706970215	0.57674	D	0.783822	0.42110	T	0.6750387	0.76703	0.66960424	0.80617	0.6750387	0.76705	0.66960424	0.80618	-8.302	0.63109	D	0.4608521760587884	0.54309	0.233	0.46585	B	.	.	3.941210	0.57670	23.9	0.99559542714346594	0.71707	0.97699	0.76499	D	AEFDBI	.	.	.	.	.	.	.	.	.	0.999999999999939	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.52	5.52	0.82153	5.750000	0.68350	5.891000	0.50761	0.545000	0.25583	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	17.125	0.86590	.	.	.	.	.	.	.	.	Uncertain significance	0	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	.	.	.	.	.	.	.	.	0.07143	1116.53	35	chrX	49248860	.	C	G	1116.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.763;DP=232;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.73;ReadPosRankSum=1.85;SOR=0.61	GT:AD:DP:GQ:PL	0/1:31,40:71:99:1127,0,799	6	0	1	0
chrX	54541300	54541300	G	A	exonic	GNL3L	.	nonsynonymous SNV	GNL3L:NM_001184819:exon5:c.G217A:p.A73T,GNL3L:NM_019067:exon5:c.G217A:p.A73T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	0.00423155771091	.	.	1.168e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs769334911	1.004e-05	1.002e-05	8.168e-06	1.385e-05	9.249e-05	5.39e-06	3.94e-06	3.545e-05	2.359e-05	0	0	5.165e-05	3.312e-05	0	0	3.572e-06	2.173e-05	9.249e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.339	0.12754	T	0.583	0.08419	T	0.0	0.02946	B	0.001	0.04355	B	0.014528	0.28506	N	0.360256	0.563298	0.31239	N	2.605	0.76211	M	2.18	0.18875	T	-1.0	0.26422	N	0.065	0.03726	-1.0638	0.10831	T	0.040	0.17020	T	10	0.050325662	0.04748	T	0.004232	0.10216	T	0.055	0.15663	0.189	0.09907	0.353352923073	0.34951	0.1223804703816309	0.12165	0.183203080201	0.20607	0.286334753036	0.08391	T	0.053083	0.29344	T	-0.584501	0.00181	T	-0.817692	0.01499	T	0.0762359122532801	0.09498	T	0.494351	0.15306	T	0.10660654	0.25207	0.14066295	0.33522	0.10660654	0.25207	0.14066295	0.33521	-5.416	0.41073	T	.	.	0.076	0.05800	B	.;.	.;.	0.777743	0.11479	8.081	0.98478116481729183	0.41943	0.51738	0.28966	D	AEFBI	.	.	.	.	.	.	.	.	.	0.975662728204231	0.29654	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.13	4.13	0.47661	0.356000	0.19918	2.853000	0.35153	-0.107000	0.15377	0.589000	0.27658	1.000000	0.68203	0.735000	0.35267	0.0:0.0:1.0:0.0	13.625	0.61627	96	0.96030	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.07143	1484.44	35	chrX	54541300	.	G	A	1484.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.378;DP=321;ExcessHet=0;FS=0.653;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.51;ReadPosRankSum=0.271;SOR=0.625	GT:AD:DP:GQ:PL	0/1:67,62:129:99:1495,0,1656	6	0	1	0
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	0/1:176,558:734:99:14870,0,2813	0	2	5	0
chrX	55146163	55146163	C	G	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166700:exon3:c.G272C:p.G91A,FAM104B:NM_001166701:exon3:c.G269C:p.G90A,FAM104B:NM_001166702:exon3:c.G260C:p.G87A,FAM104B:NM_001166703:exon3:c.G266C:p.G89A	.	374	1096	52	0	0	52	0.0231729	.	.	.	2347869	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.112	0.0083066206165	.	.	.	.	.	.	.	.	.	.	.	.	.	rs749664168	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.61437	D	0.014	0.62352	D	0.998	0.73220	D	0.987	0.77487	D	.	.	.	.	1	0.18612	N	.	.	.	0.67	0.52187	T	-5.02	0.82511	D	0.522	0.59732	-0.9991	0.30171	T	0.170	0.51149	T	9	0.29008466	0.46589	T	0.008307	0.22004	T	0.112	0.31546	0.422	0.46529	0.112648838833	0.10856	0.31106191669168637	0.31019	0.112868008101	0.12739	.	.	.	.	.	.	-0.220447	0.17933	T	-0.554434	0.16902	T	0.871886670589447	0.52177	D	0.80202	0.44827	T	.	.	.	.	.	.	.	.	-3.004	0.10224	T	.	.	0.214	0.48355	B	.;.;.	.;.;.	2.819106	0.37133	20.4	0.9914079276979646	0.53518	0.43990	0.27220	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999994922950989	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	1.6	0.22686	2.611000	0.45998	1.116000	0.24201	0.530000	0.24713	1.000000	0.71638	0.001000	0.17328	0.759000	0.36109	0.0:1.0:0.0:0.0	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	.	.	.	.	.	.	.	.	0.07143	2147.44	432	chrX	55146163	.	C	G	2147.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.488;DP=3367;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=2.84;ReadPosRankSum=0.413;SOR=0.683	GT:AD:DP:GQ:PL	0/1:605,150:755:99:2158,0,17100	6	0	1	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	0/1:177,513:703:99:17210,0,3156	0	0	7	0
chrX	55146220	55146220	G	A	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.C215T:p.T72I,FAM104B:NM_001166700:exon3:c.C215T:p.T72I,FAM104B:NM_001166701:exon3:c.C212T:p.T71I,FAM104B:NM_001166702:exon3:c.C203T:p.T68I,FAM104B:NM_001166703:exon3:c.C209T:p.T70I,FAM104B:NM_138362:exon3:c.C212T:p.T71I	.	370	1115	37	0	0	37	0.0163211	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	0.00315731852392	.	.	.	.	.	.	.	.	.	.	.	.	.	rs139350637	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.177	0.28900	T	0.012	0.63918	D	0.002	0.09854	B	0.001	0.11217	B	0.403105	0.13098	N	0.651113	1	0.08975	N	0	0.06538	N	1.0	0.41392	T	-2.39	0.53420	N	0.143	0.17416	-1.0500	0.14397	T	0.044	0.18783	T	10	0.08485773	0.14265	T	0.003157	0.06906	T	0.050	0.13987	0.229	0.15556	0.21279746466	0.20884	0.17900834119820064	0.17819	0.0855686498455	0.09666	0.284664392471	0.08152	T	0.064288	0.32395	T	-0.485039	0.00692	T	-0.934502	0.00314	T	0.0454948231379387	0.04692	T	0.562944	0.19809	T	0.04842347	0.08436	0.06225213	0.12149	0.04842347	0.08435	0.06225213	0.12148	-3.671	0.21044	T	.	.	0.105	0.19276	B	.;.;.;.;.	.;.;.;.;.	1.149813	0.15376	11.80	0.59458040411249835	0.06229	0.02746	0.07427	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999986991742866	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	-0.258	0.12334	2.442000	0.44531	0.791000	0.21569	-0.927000	0.02165	0.030000	0.20431	0.000000	0.08366	0.263000	0.23594	0.1901:0.0:0.5373:0.2726	2.545	0.04447	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	.	.	.	.	.	.	.	.	0.07143	1673.44	285	chrX	55146220	.	G	A	1673.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.193;DP=2585;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=2.4;ReadPosRankSum=-0.864;SOR=0.706	GT:AD:DP:GQ:PL	0/1:573,123:696:99:1684,0,19137	6	0	1	0
chrX	55146226	55146226	A	G	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.T209C:p.I70T,FAM104B:NM_001166700:exon3:c.T209C:p.I70T,FAM104B:NM_001166701:exon3:c.T206C:p.I69T,FAM104B:NM_001166702:exon3:c.T197C:p.I66T,FAM104B:NM_001166703:exon3:c.T203C:p.I68T,FAM104B:NM_138362:exon3:c.T206C:p.I69T	.	377	953	191	1	0	193	0.0919485	.	.	.	2292730	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.021	0.00406903138937	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs5018687	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.403	0.10378	T	0.268	0.22694	T	0.393	0.34680	B	0.291	0.53365	B	0.039374	0.24178	N	0.273281	1	0.08975	N	0.64	0.16041	N	0.95	0.43279	T	-0.72	0.25332	N	0.2	0.23506	-0.9521	0.40608	T	0.090	0.34463	T	10	0.055033892	0.05951	T	0.004069	0.09712	T	0.021	0.04004	.	.	0.141422826196	0.13715	0.06275098226723172	0.06214	0.248494845932	0.27412	0.330263495445	0.14974	T	0.020098	0.15887	T	-0.449697	0.01134	T	-0.883735	0.00624	T	0.0690480346428045	0.08518	T	0.637636	0.25136	T	0.03846359	0.05127	0.06403163	0.12771	0.03846359	0.05127	0.06403163	0.12771	-2.966	0.10052	T	.	.	0.086	0.10787	B	.;.;.;.;.	.;.;.;.;.	-0.138938	0.03417	0.621	0.94453687128581543	0.24887	0.00870	0.03447	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999988350960953	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	-0.877	0.10083	-0.230000	0.09093	-3.501000	0.02739	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.713000	0.34548	0.5262:0.0:0.4738:0.0	4.189	0.09871	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	.	.	.	.	.	.	.	.	0.1429	1616.24	285	chrX	55146226	.	A	G	1616.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.761;DP=2585;ExcessHet=0.3476;FS=0.765;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=1.49;ReadPosRankSum=-0.326;SOR=0.824	GT:AD:DP:GQ:PL	0/1:601,90:691:99:805,0,22680	5	0	2	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	0/1:492,148:640:99:2540,0,17972	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	0/1:162,423:585:99:15134,0,3212	0	0	7	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	0/1:150,352:502:99:11153,0,3054	0	0	7	0
chrX	55146283	55146283	C	T	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.G152A:p.S51N,FAM104B:NM_001166700:exon3:c.G152A:p.S51N,FAM104B:NM_001166701:exon3:c.G149A:p.S50N,FAM104B:NM_001166702:exon3:c.G140A:p.S47N,FAM104B:NM_001166703:exon3:c.G146A:p.S49N,FAM104B:NM_138362:exon3:c.G149A:p.S50N	.	397	623	499	3	0	505	0.288407	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.0110921071969	.	.	.	.	.	.	.	.	.	.	0.0152528	397	26028	rs5018688	0	9.106e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.59928	D	0.093	0.43913	T	0.393	0.56973	B	0.383	0.56425	B	0.059846	0.22293	U	0.378995	1	0.08975	N	1.89	0.50145	L	0.58	0.54149	T	-1.28	0.38924	N	0.403	0.45237	-0.9915	0.32218	T	0.137	0.45260	T	10	0.1055212	0.19508	T	0.011092	0.28353	T	0.056	0.15993	0.195	0.10705	0.117506650769	0.11410	0.13308873038305813	0.13232	0.421847818605	0.42694	0.421121031046	0.27990	T	0.02108	0.16480	T	-0.332179	0.05948	T	-0.714929	0.05044	T	0.244155928492546	0.22609	T	0.533147	0.22079	T	0.27807146	0.50863	0.22633299	0.47608	0.27807146	0.50863	0.22633299	0.47607	-4.287	0.28968	T	.	.	0.120	0.24733	B	.;.;.;.;.	.;.;.;.;.	0.299513	0.06751	3.267	0.94323433060273598	0.24650	0.08620	0.14524	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999986223079379	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	0.279	0.14929	0.332000	0.19494	-0.521000	0.08690	0.530000	0.24713	0.996000	0.39380	0.000000	0.08366	0.128000	0.19490	0.5333:0.4667:0.0:0.0	4.875	0.13009	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	7945.13	159	chrX	55146283	.	C	T	7945.13	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-0.228;DP=1737;ExcessHet=2.5225;FS=0.585;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=6.06;ReadPosRankSum=-0.29;SOR=0.61	GT:AD:DP:GQ:PL	0/1:355,117:472:99:2557,0,11729	3	0	4	0
chrX	74743221	74743221	T	C	exonic	NEXMIF	.	nonsynonymous SNV	NEXMIF:NM_001008537:exon3:c.A1336G:p.I446V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	0.0118661001055	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.182	0.21801	T	0.107	0.37730	T	0.114	0.26387	B	0.078	0.28627	B	0.000004	0.62929	D	0.104597	0.918498	0.27348	N	.	.	.	1.52	0.30669	T	0.0	0.07008	N	0.057	0.10198	-1.0511	0.14092	T	0.056	0.23677	T	10	0.1483576	0.28096	T	0.011866	0.29919	T	0.053	0.14996	0.08	0.00663	0.244449712813	0.24043	0.12081347814108552	0.12008	0.211808157918	0.23679	0.31494551897	0.12655	T	0.029997	0.21364	T	-0.381165	0.03064	T	-0.785294	0.02297	T	0.528068602085114	0.33663	D	0.809419	0.45992	T	0.22738063	0.45437	0.14222668	0.33842	0.22738063	0.45437	0.14222668	0.33841	-3.067	0.10920	T	.	.	0.084	0.09917	B	.;.;.	.;.;.	2.095120	0.26650	17.19	0.98271068378892468	0.39759	0.98243	0.80867	D	AEFBI	.	.	.	.	.	.	.	.	.	0.479023360439851	0.20770	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.03	4.84	0.62125	4.827000	0.62413	2.915000	0.35530	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.1378:0.8621	12.466	0.55101	104	0.95701	Domain of unknown function DUF4683;Domain of unknown function DUF4683;Domain of unknown function DUF4683	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	2801.45	38	chrX	74743221	.	T	C	2801.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.473;DP=393;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.59;ReadPosRankSum=1.83;SOR=0.662	GT:AD:DP:GQ:PL	0/1:79,113:192:99:2812,0,1895	6	0	1	0
chrX	103377642	103377642	A	G	exonic	BEX3	.	nonsynonymous SNV	BEX3:NM_014380:exon1:c.A151G:p.I51V,BEX3:NM_001282674:exon2:c.A391G:p.I131V,BEX3:NM_206915:exon3:c.A151G:p.I51V,BEX3:NM_206917:exon3:c.A121G:p.I41V	.	427	1091	4	0	0	4	0.00182983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.00195605951918	.	.	0.0001	0	0.0001	0	0	2.084e-05	0	0.0008	0.0001294	20	154602	rs745396814	7.922e-05	7.922e-05	4.492e-05	0.0001	0.0024	6.578e-05	6.07e-05	0.0013	0.0010	0	2.84e-05	0	0	0	0.0024	2.612e-05	0.0002	0.0008	7.184e-05	7.827e-05	6.425e-05	8.943e-05	0.0004	3.483e-05	2.526e-05	4.854e-05	3.36e-05	0	0	0	0	0	0	0	0.0001	0.0007	0.0004	0.179	0.22053	T	0.368	0.16570	T	0.0	0.02946	B	0.001	0.04355	B	0.948521	0.08303	N	0.970697	0.988204	0.24436	N	0.915	0.23335	L	2.61	0.13095	T	-0.57	0.17210	N	0.035	0.04913	-0.9569	0.39753	T	0.017	0.06807	T	10	0.07716495	0.12144	T	0.001956	0.03482	T	0.092	0.26621	0.775	0.90080	0.398872588132	0.39498	0.21236768067108344	0.21152	1.69678653919	0.90229	0.648869276047	0.59826	T	0.099054	0.40348	T	-0.668085	0.00056	T	-0.829842	0.01265	T	0.0279167877530107	0.01676	T	0.683132	0.29138	T	0.10181103	0.24051	0.1062371	0.25552	0.10181103	0.24050	0.1062371	0.25552	-2.929	0.10932	T	.	.	0.127	0.30397	B	.;.;.;.	.;.;.;.	2.187689	0.27889	17.61	0.99618640150239324	0.75293	0.32026	0.24484	N	AEFDBHCI	.	.	.	.	.	.	.	.	.	0.999997632500336	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.82	2.65	0.30588	1.194000	0.31783	1.640000	0.27787	0.751000	0.87719	1.000000	0.71638	0.041000	0.21590	1.000000	0.97212	0.86:0.0:0.14:0.0	4.951	0.13363	245	0.90404	.;.;.;.	.	.	.	.	.	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	0.000688	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.005263	0.07143	2455.44	34	chrX	103377642	.	A	G	2455.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.595;DP=405;ExcessHet=0;FS=1.683;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.37;ReadPosRankSum=-0.501;SOR=0.562	GT:AD:DP:GQ:PL	0/1:116,100:216:99:2466,0,3148	6	0	1	0
chrX	104250581	104250581	G	A	exonic	ESX1	.	nonsynonymous SNV	ESX1:NM_153448:exon4:c.C868T:p.R290C	.	435	1082	2	2	1	7	0.00276498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.00698028615383	0.0008	0.000264901	0.0011	0.0001	0.0011	0	0.0005	0.0016	0.0040	0	0.0001811	28	154602	rs148783552	0.0017	0.0017	0.0018	0.0016	0.0037	0.0017	0.0016	0.0022	0.0020	0.0002	0.0007	0	0.0002	0.0001	0.0037	0.0021	0.0016	0.0002	0.0011	0.0012	0.0013	0.0007	0.0021	0.0010	0.0009	0.0018	0.0017	0.0002	0	0.0008	0	0	0.0002	0	0.0021	0	0	0.022	0.48642	D	0.195	0.28032	T	0.001	0.07471	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0.255	0.09829	N	0.38	0.57575	T	-0.56	0.17003	N	0.07	0.04307	-1.0344	0.19046	T	0.083	0.32642	T	9	0.005555272	0.00123	T	0.00698	0.18485	T	0.075	0.21907	.	.	0.123314135267	0.11883	0.2551393431761894	0.25427	0.552616846594	0.52065	0.473611652851	0.35178	T	0.095616	0.39657	T	-0.711271	0.00031	T	-0.797833	0.01958	T	0.00568925470463763	0.00062	T	0.723028	0.33655	T	0.069120474	0.15115	0.06331646	0.12524	0.069120474	0.15115	0.06331646	0.12523	-7.077	0.54595	T	.	.	0.143	0.31355	B	.	.	0.444390	0.08144	4.877	0.75917921808809885	0.11262	0.01091	0.04015	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.0250215685659538	0.13619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.47	0.14	0.14101	-2.681000	0.00909	-0.714000	0.07736	-1.576000	0.00927	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1523:0.0:0.6247:0.223	4.152	0.09708	478	0.77585	.	.	.	.	.	.	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	1	0	0	0	0.004861	0.006897	0.001855	0.003953	0.142857	0.011765	0.000000	0.005291	0.07143	903.63	35	chrX	104250581	.	G	A	903.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.05;DP=232;ExcessHet=0;FS=6.845;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.1;ReadPosRankSum=0.367;SOR=1.555	GT:AD:DP:GQ:PL	0/1:37,32:69:99:914,0,855	6	0	1	0
chrX	110792163	110792163	T	C	exonic	CHRDL1	.	nonsynonymous SNV	CHRDL1:NM_001143981:exon2:c.A19G:p.M7V,CHRDL1:NM_001143982:exon2:c.A19G:p.M7V,CHRDL1:NM_001143983:exon2:c.A19G:p.M7V,CHRDL1:NM_001367204:exon2:c.A19G:p.M7V,CHRDL1:NM_001367205:exon2:c.A19G:p.M7V,CHRDL1:NM_001367206:exon2:c.A19G:p.M7V,CHRDL1:NM_001367207:exon2:c.A19G:p.M7V,CHRDL1:NM_001367208:exon2:c.A19G:p.M7V,CHRDL1:NM_001367209:exon2:c.A19G:p.M7V,CHRDL1:NM_145234:exon2:c.A19G:p.M7V	Megalocornea 1, X-linked, X-linked recessive	4	1513	2	3	0	8	0.00263678	.	.	.	773703	not_provided|CHRDL1-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.096	0.0222468725386	0.0003	0.000264901	0.0004	0.0001	0.0001	0	0	0.0001	0	0.0031	0.0003946	61	154602	rs147128392	0.0002	0.0002	0.0002	0.0003	0.0023	0.0002	0.0002	0.0020	0.0018	0	0.0002	0.0006	0	0	0.0017	7.121e-05	0.0004	0.0023	0.0001	0.0002	0.0001	0.0002	0.0011	8.911e-05	7.2e-05	0.0003	0.0002	3.229e-05	0	0.0004	0.0008	0	0	0	9.384e-05	0.0007	0.0011	0.062	0.91255	T	0.0	0.92824	D	0.0	0.02946	B	0.0	0.01387	B	0.883422	0.08739	N	0.954806	0.999999	0.21886	N	.	.	.	2.33	0.27822	T	0.43	0.09135	N	0.107	0.26837	-0.9884	0.33002	T	0.040	0.17063	T	8	0.014844358	0.00312	T	0.022247	0.45119	T	0.096	0.27654	.	.	0.484913652648	0.48122	0.687309823735441	0.68670	0.346268775609	0.36533	0.335800886154	0.15808	T	0.077349	0.35633	T	-0.61122	0.00124	T	-0.656609	0.08497	T	0.0210259607433748	0.00803	T	0.9	0.65058	D	0.13334079	0.31017	0.24628694	0.50134	0.13334079	0.31017	0.24628694	0.50133	-6.24	0.48245	T	.	.	0.069	0.05360	B	.;.;.;.;.	.;.;.;.;.	1.340075	0.17462	13.18	0.95343713143290687	0.26720	0.58672	0.30705	D	AEFGBI	.	.	.	.	.	.	.	.	.	0.674537364194674	0.22411	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.19	1.23	0.20358	0.971000	0.28993	3.066000	0.36180	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.3021:0.1798:0.0:0.5181	3.110	0.05971	611	0.66908	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	1	0	0.001377	0.000000	0.000000	0.003968	0.000000	0.000000	0.000000	0.005263	0.07143	1586.46	34	chrX	110792163	.	T	C	1586.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.135;DP=314;ExcessHet=0;FS=1.288;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.87;ReadPosRankSum=-0.253;SOR=0.588	GT:AD:DP:GQ:PL	0/1:71,75:146:99:1597,0,1571	6	0	1	0
chrX	115190343	115190343	G	A	exonic	RBMXL3	.	nonsynonymous SNV	RBMXL3:NM_001145346:exon1:c.G902A:p.R301Q	.	436	1072	8	6	0	20	0.00924214	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.127	0.00555910250286	.	0.000529801	0.0017	0	0	0	0	0.0004	0	0.0081	0.0003493	54	154602	rs782148400	0.0006	0.0006	0.0005	0.0008	0.0058	0.0006	0.0005	0.0053	0.0051	4.057e-05	3.71e-05	0	0	0	0.0030	0.0004	0.0006	0.0058	0.0003	0.0003	0.0003	0.0004	0.0034	0.0003	0.0002	0.0017	0.0013	6.425e-05	0	0.0003	0	0	0	0.0092	0.0004	0.0007	0.0034	0.001	0.78490	D	0.009	0.66756	D	0.961	0.55431	D	0.056	0.26147	B	.	.	.	.	0.999993	0.58761	D	0.345	0.11182	N	3.31	0.06291	T	-2.14	0.48523	N	0.08	0.05542	-0.9108	0.46756	T	0.011	0.04088	T	8	0.0052516162	0.00115	T	0.005559	0.14349	T	0.127	0.34888	.	.	0.0806252709748	0.07271	0.02179087180370503	0.02131	.	.	0.323629528284	0.13971	T	0.219223	0.58217	T	-0.691757	0.00041	T	-0.763826	0.02977	T	0.122868388725934	0.14708	T	0.651035	0.26183	T	0.1228379	0.28857	0.21272378	0.45753	0.1228379	0.28857	0.21272378	0.45752	-4.448	0.30203	T	.	.	0.196	0.41753	B	.	.	2.253689	0.28792	17.91	0.97920023763002328	0.36879	0.33780	0.24911	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.390695504827626	0.20044	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.869	0.869	0.18233	3.148000	0.50343	3.062000	0.36164	-0.574000	0.04772	1.000000	0.71638	0.214000	0.23665	0.005000	0.06747	.	.	.	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	1	0	0	0	0.001160	0.000000	0.000000	0.000000	0.000000	0.031250	0.000000	0.000000	0.07143	2191.83	34	chrX	115190343	.	G	A	2191.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.83;DP=369;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.18;ReadPosRankSum=0.886;SOR=0.734	GT:AD:DP:GQ:PL	0/1:82,98:180:99:2202,0,1784	6	0	1	0
chrX	124497154	124497154	T	C	exonic	TENM1	.	nonsynonymous SNV	TENM1:NM_001163278:exon20:c.A3557G:p.N1186S,TENM1:NM_001163279:exon20:c.A3554G:p.N1185S,TENM1:NM_014253:exon20:c.A3557G:p.N1186S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.407	0.418012289482	9.5e-05	.	2.366e-05	0	0	0	0	4.322e-05	0	0	1.94e-05	3	154602	rs140517614	1.185e-05	1.184e-05	1.09e-05	1.378e-05	0.0005	6.61e-06	5.09e-06	8.535e-05	3.554e-05	0	0	0	0	0	0.0005	1.307e-05	0	0	1.8e-05	1.742e-05	1.286e-05	2.996e-05	0.0003	2.99e-06	1.12e-06	.	.	0	0	0	0	0.0003	0	0	1.886e-05	0	0	0.05	0.39575	D	0.052	0.47581	T	0.027	0.19556	B	0.019	0.18783	B	0.000084	0.51296	D	0.169682	0.999982	0.54805	D	1.925	0.51371	L	-2.11	0.86216	D	-3.48	0.67941	D	0.443	0.48134	-0.1705	0.78416	T	0.523	0.82192	D	10	0.52042246	0.62610	D	0.418012	0.93735	D	0.407	0.71946	.	.	0.873550825686	0.87232	0.3619815146997668	0.36112	0.477844528706	0.46885	0.582825899124	0.50483	T	0.230268	0.59629	T	-0.239851	0.15368	T	-0.469815	0.25536	T	0.205163562431065	0.20697	T	0.885611	0.61095	D	0.3644112	0.58169	0.37553218	0.62695	0.3644112	0.58170	0.37553218	0.62695	-6.888	0.53210	T	.	.	0.071	0.03698	B	.;.	.;.	2.607077	0.33848	19.46	0.99596562626663776	0.73925	0.97012	0.72181	D	AEFI	.	.	.	.	.	.	.	.	.	0.999661652901077	0.41534	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.43	5.43	0.79006	5.065000	0.64175	7.859000	0.71346	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.0:1.0	14.532	0.67516	962	0.08456	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.07143	1878.49	33	chrX	124497154	.	T	C	1878.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.715;DP=353;ExcessHet=0;FS=2.657;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.8;ReadPosRankSum=0.767;SOR=0.502	GT:AD:DP:GQ:PL	0/1:90,84:174:99:1889,0,2123	6	0	1	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	0/1:63,32:95:99:135,0,965	2	0	4	1
chrX	141905868	141905868	T	C	exonic	MAGEC1	.	nonsynonymous SNV	MAGEC1:NM_005462:exon4:c.T464C:p.F155S	.	423	1074	10	6	9	31	0.0101382	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	.	.	0.0013245	0.0037	0.0006	0.0010	0	0	0.0040	0.0079	0.0105	0.0020116	311	154602	rs139443648	0.0024	0.0024	0.0023	0.0025	0.0142	0.0023	0.0023	0.0113	0.0102	0.0002	0.0021	0.0020	0	5.074e-05	0.0142	0.0023	0.0027	0.0065	0.0022	0.0022	0.0021	0.0022	0.0062	0.0019	0.0019	0.0046	0.0042	0.0003	0	0.0058	0.0023	0	0	0.0047	0.0027	0.0039	0.0062	0.329	0.13175	T	0.545	0.09588	T	0.012	0.16265	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0.55	0.14455	N	4.07	0.03033	T	-0.66	0.19085	N	0.041	0.01421	-0.8946	0.48521	T	0.005	0.01761	T	8	0.006348878	0.00143	T	.	.	.	0.023	0.04649	.	.	0.0401082797425	0.02173	0.01917039542671657	0.01871	.	.	0.492900371552	0.37841	T	0.004114	0.03522	T	-0.81659	0.00006	T	-0.942583	0.00286	T	0.00239010341465473	0.00025	T	0.230377	0.03106	T	0.084212095	0.19481	0.12148678	0.29312	0.084212095	0.19480	0.12148678	0.29311	-6.287	0.48619	T	.	.	0.806	0.77589	P	.	.	0.291508	0.06680	3.180	0.28806100477940155	0.01497	0.00185	0.01079	N	AEFBCI	.	.	.	.	.	.	.	.	.	9.22317778584206E-6	0.01202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.895000	0.04226	.	.	-3.646000	0.00069	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3347:0.0:0.6653	3.636	0.07689	987	0.02648	.	.	.	.	.	.	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	1	0	0	0	0.009682	0.013793	0.005566	0.003953	0.000000	0.011765	0.008850	0.026316	0.07143	3208.44	132	chrX	141905868	.	T	C	3208.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.226;DP=785;ExcessHet=0;FS=0.441;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.75;ReadPosRankSum=-1.578;SOR=0.655	GT:AD:DP:GQ:PL	0/1:138,135:273:99:3219,0,3356	6	0	1	0
chrX	141906309	141906309	-	ACTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCACTTTATTGAGTATTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTCCCCAGTCTCT	exonic	MAGEC1	.	nonframeshift insertion	MAGEC1:NM_005462:exon4:c.905_906insACTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCACTTTATTGAGTATTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTCCCCAGTCTCT:p.S308_S309insRSFSSTLLSIFQSSPERTQSTFEGFPQSLLQIPVS	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0.0016	0.0008	0.0014	0.0010	0.0010	0.0010	0.0009	0.0009	4.076e-05	0.0008	0.0022	0	0.0034	0.0008	0.0010	0.0013	0.0006	0.0002	0.0005	0.0001	0.0003	0.0003	0.0001	9.257e-05	0.0002	0.0001	3.628e-05	0	0	0	0	0.0006	0	0.0003	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	15708.6	86	chrX	141906309	.	C	CACTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCACTTTATTGAGTATTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTCCCCAGTCTCT	15708.6	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-0.819;DP=863;ExcessHet=0;FS=3.112;MLEAC=3;MLEAF=0.25;MQ=51.05;MQRankSum=-1.843;QD=33.66;ReadPosRankSum=2.65;SOR=0.499	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:4,102:273:99:.:.:10770,3432,3006:.	4	1	1	1
chrX	153319950	153319950	C	T	exonic	PNMA6F	.	nonsynonymous SNV	PNMA6F:NM_001354980:exon2:c.G725A:p.R242Q	.	920	601	1	0	0	1	0.000831255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00688742	.	.	.	.	.	.	.	.	0.0014215	37	26028	rs112153704	0.0007	0.0005	0.0008	0.0006	0.0182	0.0006	0.0006	0.0154	0.0143	0.0182	0.0005	0.0001	5.707e-05	0	0	3.263e-05	0.0020	0	0.0052	0.0053	0.0054	0.0046	0.0181	0.0048	0.0047	0.0169	0.0164	0.0181	0	0.0011	0	0	0	0	0	0.0039	0.0004	.	.	.	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.00770	.	.	.	.	.	.	.	0.0063058734	0.00142	T	.	.	.	.	.	.	.	.	.	0.06341944205111516	0.06280	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.436356	0.11970	T	0.043219402	0.06695	0.1038787	0.24936	0.043219402	0.06695	0.1038787	0.24935	0.257	0.00270	T	.	.	0.074	0.05274	B	.	.	-0.322531	0.02520	0.299	0.61366071164565394	0.06691	0.00094	0.00618	N	AEFBI	.	.	.	.	.	.	.	.	.	0.0508398074644013	0.14853	.	.	.	.	.	.	.	.	.	.	.	.	0.046323	0.05263	2.71	1.56	0.22423	-0.536000	0.06223	.	.	-0.321000	0.05860	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.0:0.1667:0.0:0.8333	5.215	0.14660	162	0.93704	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.07143	2230.45	38	chrX	153319950	.	C	T	2230.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.5;DP=369;ExcessHet=0;FS=1.847;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.46;ReadPosRankSum=-0.843;SOR=0.549	GT:AD:DP:GQ:PL	0/1:89,90:179:99:2241,0,2026	6	0	1	0
chrX	154776813	154776813	-	AAG	exonic	DKC1	.	nonframeshift insertion	DKC1:NM_001142463:exon15:c.1476_1477insAAG:p.K500_A501insK,DKC1:NM_001363:exon15:c.1491_1492insAAG:p.K505_A506insK	Dyskeratosis congenita, X-linked, X-linked recessive	.	.	.	.	.	.	.	.	.	.	208981	Dyskeratosis_congenita|not_specified|not_provided|Dyskeratosis_congenita,_X-linked	MONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550,Orphanet:1775|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010584,MedGen:C1148551,OMIM:305000	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	0.00900662	0.0091	0.0009	0.0052	0	0.0021	0.0071	0.0171	0.0394	0.0007684	20	26028	rs1315337295	0.0043	0.0046	0.0053	0.0021	0.0376	0.0042	0.0041	0.0328	0.0309	0.0008	0.0041	0.0183	0.0002	0.0008	0.0376	0.0030	0.0064	0.0224	0.0045	0.0051	0.0047	0.0040	0.0300	0.0042	0.0040	0.0245	0.0225	0.0008	0	0.0076	0.0191	0.0003	0.0009	0.0372	0.0045	0.0101	0.0300	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	2225.38	36	chrX	154776813	.	C	CAAG	2225.38	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.201;DP=275;ExcessHet=0;FS=2.55;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=20.61;ReadPosRankSum=2.39;SOR=0.456	GT:AD:DP:GQ:PL	0/1:49,55:106:99:2161,0,1872	6	0	1	0