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	NSWES958	WT	HH	HZ	NC
chr1	1047806	1047806	G	A	exonic	AGRN	.	nonsynonymous SNV	AGRN:NM_198576:exon22:c.G3662A:p.R1221Q	Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, Autosomal recessive	1	1518	3	0	0	3	0.000987167	.	.	.	538325	Congenital_myasthenic_syndrome_8	MONDO:MONDO:0014052,MedGen:C3808739,OMIM:615120,Orphanet:590	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.118	0.0169290713654	.	.	1.31e-05	0	0	0.0002	0	0	0	0	6.5e-06	1	154602	rs764139323	2.342e-05	2.326e-05	2.74e-05	1.94e-05	0.0038	1.686e-05	1.488e-05	0.0026	0.0022	9.012e-05	0	0	0	0	0.0038	5.416e-06	1.67e-05	2.345e-05	3.285e-05	3.283e-05	2.569e-05	4.035e-05	0.0002	1.261e-05	7.98e-06	4.88e-06	1.83e-06	2.413e-05	0	0	0	0.0002	0	0	2.94e-05	0.0005	0	0.501	0.07720	T	0.303	0.20164	T	.	.	.	.	.	.	0.680669	0.10261	N	0.791785	1	0.08975	N	0.83	0.20963	L	1.15	0.38236	T	-1.12	0.28906	N	0.151	0.15469	-0.9923	0.32012	T	0.040	0.17319	T	10	0.06959668	0.10007	T	0.016929	0.38413	T	0.118	0.32913	0.606	0.73825	0.426904299391	0.42305	0.27960691849059655	0.27873	0.238749444739	0.26425	0.481464922428	0.36259	T	.	.	.	-0.226061	0.17173	T	-0.562498	0.16143	T	0.0464742923248651	0.04870	T	0.885211	0.61002	D	.	.	.	.	.	.	.	.	-4.298	0.28149	T	.	.	0.079	0.07889	B	.;.	.;.	2.093951	0.26636	17.19	0.9923600082060352	0.56373	0.02663	0.07280	N	AEFBI	0.075414	0.15142	N	-1.08487491337129	0.06921	0.3200087	-1.08093852992369	0.08076	0.3955054	0.134771827984119	0.17160	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	3.87	-0.52	0.11340	0.260000	0.18192	2.633000	0.33705	0.676000	0.76740	0.012000	0.18695	1.000000	0.68203	0.743000	0.35541	0.3365:0.1344:0.5291:0.0	6.087	0.19199	940	0.13648	.;SEA domain|SEA domain|SEA 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	0.003040	0.010309	0.002732	0.002941	0.000000	0.008772	0.000000	0.000000	0.02632	952.33	45	chr1	1047806	.	G	A	952.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.666;DP=859;ExcessHet=0;FS=0.844;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.61;ReadPosRankSum=0.256;SOR=0.846	GT:AD:DP:GQ:PL	0/1:44,38:82:99:966,0,1143	18	0	1	0
chr1	1214100	1214100	G	A	exonic	TNFRSF4	.	nonsynonymous SNV	TNFRSF4:NM_003327:exon1:c.C28T:p.R10C	.	377	1075	66	4	0	74	0.0332734	.	.	.	447262	Combined_immunodeficiency_due_to_OX40_deficiency|TNFRSF4-related_disorder|not_provided	MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593,Orphanet:431149|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.118	.	0.0053	0.00519169	0.0151	0.0038	0.0060	0	0.0120	0.0141	0.0087	0.0318	0.0070504	1090	154602	rs35304565	0.0080	0.0080	0.0075	0.0085	0.0244	0.0079	0.0078	0.0235	0.0231	0.0015	0.0033	0.0093	5.145e-05	0.0058	0.0213	0.0074	0.0088	0.0244	0.0053	0.0053	0.0053	0.0052	0.0193	0.0050	0.0048	0.0161	0.0149	0.0018	0.0011	0.0056	0.0078	0	0.0040	0.0034	0.0068	0.0080	0.0193	0.007	0.59928	D	0.011	0.64786	D	0.981	0.59675	D	0.265	0.39681	B	0.001714	0.00817	N	4.085850	1	0.08975	N	0.895	0.22405	L	-0.02	0.62918	T	-2.58	0.55662	D	0.164	0.17278	-0.9026	0.47717	T	0.129	0.43848	T	10	0.0057964325	0.00129	T	.	.	.	0.118	0.32913	.	.	0.623996689363	0.62094	0.8368611785807644	0.83646	0.200386560108	0.22444	0.452319145203	0.32260	T	0.385507	0.74689	T	-0.476144	0.00779	T	-0.4378	0.29056	T	0.016484515701066	0.00413	T	0.526647	0.17353	T	0.17434712	0.38234	0.07939246	0.17868	0.1872518	0.40170	0.064411104	0.12905	-4.77	0.34240	T	.	.	0.341	0.56005	A	.	.	2.123526	0.27030	17.32	0.98421705000658088	0.41288	0.04202	0.09711	N	AEFDBCI	0.094465	0.19100	N	-0.538297404145678	0.20852	1.10236	-0.713258259078068	0.16631	0.8807004	0.999652904049022	0.41424	0.495158	0.18159	0	0.616935	0.53198	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	3.14	2.21	0.27042	-0.340000	0.07868	-5.498000	0.01697	0.618000	0.50648	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.1456:0.0:0.8544:0.0	6.235	0.19967	789	0.46346	.	.	.	.	.	.	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	0.016871	0.010638	0.015068	0.026316	0.000000	0.034483	0.018868	0.019084	0.07895	2220.79	36	chr1	1214100	.	G	A	2220.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.974;DP=760;ExcessHet=0.3672;FS=5.091;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=11.94;ReadPosRankSum=-0.541;SOR=0.691	GT:AD:DP:GQ:PL	0/1:35,40:75:99:900,0,729	16	0	3	0
chr1	1520197	1520197	G	A	exonic	ATAD3A	.	nonsynonymous SNV	ATAD3A:NM_001170535:exon6:c.G571A:p.A191T,ATAD3A:NM_001170536:exon6:c.G334A:p.A112T,ATAD3A:NM_018188:exon6:c.G715A:p.A239T	Harel-Yoon syndrome, Autosomal recessive, Autosomal dominant	414	1078	30	0	0	30	0.0137237	.	.	YES	794417	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.274	.	.	.	0.0044	0.0256	0.0027	0.0005	0.0015	0.0032	0.0013	0.0021	0.0002587	40	154602	rs2986576	0.0010	0.0025	0.0009	0.0010	0.0038	0.0009	0.0009	0.0025	0.0021	0.0006	0.0009	0.0012	0.0001	0.0011	0.0038	0.0010	0.0013	0.0005	0.0021	0.0035	0.0022	0.0020	0.0028	0.0019	0.0018	0.0025	0.0024	0.0019	0	0.0010	0.0020	0.0004	0.0010	0	0.0028	0.0043	0.0004	0.059	0.43393	T	0.045	0.50514	D	0.254	0.31272	B	0.247	0.38902	B	0.000000	0.84330	D	0.000000	1	0.81001	D	3.095	0.87515	M	2.25	0.19860	T	-2.99	0.62151	D	0.787	0.78737	0.372	0.88676	D	0.557	0.83854	D	10	0.013066947	0.00278	T	.	.	.	0.274	0.59007	.	.	0.621583459065	0.61851	0.6255127610254827	0.62484	0.383871402863	0.39705	0.69321680069	0.66168	T	0.225816	0.59066	T	0.00522786	0.52374	T	-0.230267	0.51746	T	0.10931204842641	0.13352	T	0.822018	0.48145	T	0.270079	0.50080	0.32427993	0.58353	0.25576767	0.48613	0.3278964	0.58683	-7.068	0.64151	T	0.4525980482247435	0.53616	0.148	0.45665	B	.;.;.	.;.;.	3.855226	0.55878	23.7	0.99634795245590502	0.76264	0.99612	0.97981	D	AEFDBI	0.917445	0.88506	D	0.45375012847299	0.64417	4.695684	0.389016773231514	0.60886	4.281534	0.999999949567692	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.15	4.15	0.47978	9.253000	0.94694	9.568000	0.81006	0.586000	0.30580	1.000000	0.71638	1.000000	0.68203	0.089000	0.17737	0.0:0.0:1.0:0.0	15.785	0.78065	846	0.36215	.;ATPase family AAA domain-containing protein 3, domain of unknown function DUF3523;.	.	.	.	.	.	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	0.015812	0.026882	0.016349	0.008264	0.000000	0.025862	0.009868	0.011628	0.05263	461.83	38	chr1	1520197	.	G	A	461.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.08;DP=1247;ExcessHet=0.119;FS=18.492;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=55.68;MQRankSum=-9.443;QD=0.97;ReadPosRankSum=-1.814;SOR=2.394	GT:AD:DP:GQ:PL	0/1:231,26:257:99:108,0,6092	17	0	2	0
chr1	1534032	1534032	C	G	exonic	ATAD3A	.	nonsynonymous SNV	ATAD3A:NM_001170535:exon16:c.C1721G:p.A574G,ATAD3A:NM_001170536:exon16:c.C1484G:p.A495G,ATAD3A:NM_018188:exon16:c.C1865G:p.A622G	Harel-Yoon syndrome, Autosomal recessive, Autosomal dominant	410	1108	2	0	2	4	0.000901713	.	.	.	2395721	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.241	0.198841609565	.	.	4.165e-05	0	8.675e-05	0	0	1.522e-05	0	0.0002	3.23e-05	5	154602	rs145341309	8.555e-05	0.0001	8.989e-05	8.116e-05	0.0002	7.315e-05	6.819e-05	0.0001	7.819e-05	0	0.0002	3.828e-05	2.519e-05	0	0.0002	8.725e-05	6.624e-05	0.0001	5.916e-05	9.193e-05	6.426e-05	5.381e-05	0.0001	3.078e-05	2.211e-05	5.845e-05	4.241e-05	0	0	0	0	0	9.407e-05	0	0.0001	0	0	0.561	0.08140	T	0.415	0.14326	T	0.001	0.07471	B	0.002	0.06944	B	0.035403	0.24647	U	0.390634	1	0.08975	N	-0.055	0.04927	N	-3.22	0.94658	D	-0.87	0.23590	N	0.202	0.23632	-0.4859	0.69154	T	0.546	0.83322	D	9	0.079940975	0.12917	T	0.198842	0.86618	D	0.241	0.54641	0.273	0.22369	0.801013483264	0.79915	0.4079095947011042	0.40706	0.466828294112	0.46077	0.268144786358	0.05900	T	0.002937	0.02330	T	-0.12352	0.32548	T	-0.212551	0.53451	T	0.0129565298557281	0.00224	T	0.0950905	0.00708	T	0.03255954	0.03305	0.031832937	0.01828	0.03255954	0.03305	0.031832937	0.01828	-3.442	0.22467	T	0.11854777705139438	0.10949	0.075	0.06433	B	.;.;.	.;.;.	0.165043	0.05550	2.008	0.55592290280966605	0.05374	0.22905	0.21902	N	AEFDBHI	0.181009	0.30832	N	-1.15286408726582	0.05733	0.2621302	-1.14850752568612	0.06795	0.3282803	0.0601689656719551	0.15187	0.67177	0.52595	0	0.643519	0.57511	0	0.570548	0.19454	0	0.711	0.71501	0	.	.	3.9	1.82	0.24209	2.221000	0.42559	-0.911000	0.06955	-0.338000	0.05727	0.013000	0.18845	0.000000	0.08366	0.001000	0.02609	0.0:0.7682:0.0:0.2318	7.186	0.24975	840	0.37365	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	886.33	47	chr1	1534032	.	C	G	886.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.022;DP=847;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.85;MQRankSum=0.926;QD=9.96;ReadPosRankSum=-0.363;SOR=0.769	GT:AD:DP:GQ:PL	0/1:49,40:89:99:900,0,1270	18	0	1	0
chr1	1676434	1676434	G	A	exonic	SLC35E2B	.	nonsynonymous SNV	SLC35E2B:NM_001110781:exon2:c.C266T:p.T89M,SLC35E2B:NM_001290264:exon3:c.C266T:p.T89M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.853	0.349005151522	.	.	0	0	.	0	.	0	0	0	3.84e-05	1	26028	rs767736645	0.0020	0.0037	0.0021	0.0019	0.0029	0.0019	0.0019	0.0025	0.0024	0.0029	0.0007	5.891e-05	0	0.0008	0.0012	0.0026	0.0014	0.0003	0.0005	0.0010	0.0005	0.0004	0.0007	0.0003	0.0003	0.0005	0.0004	0.0004	0	0.0002	0	0	0.0008	0	0.0007	0	0	.	.	.	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	0.999973	0.53665	D	2.74	0.80084	M	.	.	.	.	.	.	0.732	0.73285	0.876	0.95355	D	0.874	0.95827	D	10	0.7293253	0.74190	D	0.349005	0.92218	D	.	.	.	.	0.184605227958	0.18053	0.5049405927212977	0.50416	.	.	0.830471158028	0.86634	D	0.217417	0.57985	T	0.44413	0.92212	D	0.400186	0.92115	D	0.490796774625778	0.32293	T	0.975702	0.91457	D	0.6483128	0.75274	0.45539773	0.68339	0.6483128	0.75275	0.45539773	0.68340	-9.359	0.69978	D	.	.	0.794	0.76993	P	.;.;.	.;.;.	5.468072	0.91244	32	0.99913324602937426	0.98238	0.98229	0.80739	D	AEFDGI	0.840004	0.75734	D	0.763518969063871	0.83782	8.108518	0.714918548296532	0.83512	8.040913	0.999999959829798	0.74766	0.732398	0.92422	0	0.709663	0.81188	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	4.75	4.75	0.59954	9.499000	0.96960	11.376000	0.92617	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.958000	0.51230	0.0:0.0:1.0:0.0	15.272	0.73411	707	0.57054	Sugar phosphate transporter domain;Sugar phosphate transporter domain;Sugar phosphate transporter 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	0.010227	0.040000	0.007353	0.009091	0.000000	0.000000	0.008065	0.000000	0.02778	41.81	8	chr1	1676434	.	G	A	41.81	.	AC=1;AF=0.028;AN=36;BaseQRankSum=0.967;DP=240;ExcessHet=0;FS=0;InbreedingCoeff=0.4175;MLEAC=1;MLEAF=0.028;MQ=27;MQRankSum=0;QD=13.94;ReadPosRankSum=-0.967;SOR=1.179	GT:AD:DP:GQ:PL	0/1:1,2:3:1:55,0,1	17	0	1	1
chr1	1712294	1712294	G	A	exonic	CDK11A	.	nonsynonymous SNV	CDK11A:NM_001313896:exon6:c.C565T:p.R189W,CDK11A:NM_001313982:exon6:c.C592T:p.R198W,CDK11A:NM_024011:exon6:c.C595T:p.R199W,CDK11A:NM_033529:exon6:c.C565T:p.R189W	.	2	1517	3	0	0	3	0.000987817	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.239	.	.	.	0.0259	0.1341	0.125	0	.	0	0	0	3.84e-05	1	26028	rs55710038	0.0008	0.0009	0.0009	0.0008	0.0140	0.0008	0.0008	0.0130	0.0126	0.0140	0.0021	0.0027	0	0	0.0023	0.0004	0.0015	1.171e-05	0.0044	0.0044	0.0044	0.0043	0.0128	0.0041	0.0040	0.0119	0.0116	0.0128	0	0.0050	0.0012	0.0002	0	0	0.0006	0.0044	0	0.001	0.91255	D	0.018	0.64786	D	1.0	0.90584	D	0.991	0.79672	D	0.005258	0.32962	N	0.232964	0.982152	0.81001	D	1.845	0.48678	L	1.9	0.23486	T	-2.0	0.51811	N	0.317	0.42541	-1.0940	0.04899	T	0.088	0.34050	T	10	0.005706489	0.00127	T	.	.	.	0.239	0.54358	.	.	0.257786959452	0.25393	0.05862372061237146	0.05803	0.775395009025	0.64999	0.952469289303	0.99801	D	0.034501	0.23346	T	-0.0748707	0.40546	T	-0.345323	0.39740	T	0.0475738339232147	0.05067	T	0.972903	0.92442	D	0.12259372	0.28804	0.12510093	0.30147	0.12259372	0.28804	0.12510093	0.30146	-8.581	0.66933	D	.	.	0.408	0.76371	A	.;.;.;.;.;.	.;.;.;.;.;.	4.301224	0.65672	24.9	0.99862444475731671	0.94093	0.64918	0.32564	D	AEFGI	0.542516	0.55822	D	0.160820954534283	0.49325	3.134214	0.0536905600315781	0.42252	2.552293	3.5655154143565E-4	0.06668	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	2.16	1.18	0.20058	2.136000	0.41744	0.846000	0.22090	0.224000	0.18100	1.000000	0.71638	0.014000	0.20376	0.718000	0.34707	0.0:0.0:0.3896:0.6104	7.636	0.27433	645	0.63593	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.019512	0.035714	0.042105	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	572.33	42	chr1	1712294	.	G	A	572.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.81;DP=714;ExcessHet=0;FS=3.396;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=43.73;MQRankSum=-3.546;QD=6.9;ReadPosRankSum=-0.933;SOR=1.157	GT:AD:DP:GQ:PL	0/1:58,25:83:99:586,0,1269	18	0	1	0
chr1	3524189	3524189	G	A	exonic	MEGF6	.	nonsynonymous SNV	MEGF6:NM_001409:exon5:c.C539T:p.P180L	.	421	1084	16	1	0	18	0.00823422	.	.	.	2805579	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.319	.	0.0090	0.00339457	0.0091	0.0016	0.0032	0	0.0183	0.0118	0.0115	0.0080	0.008648	1337	154602	rs41307039	0.0095	0.0095	0.0093	0.0098	0.0132	0.0094	0.0093	0.0108	0.0099	0.0016	0.0038	0.0051	2.519e-05	0.0183	0.0132	0.0101	0.0090	0.0085	0.0083	0.0083	0.0080	0.0087	0.0128	0.0079	0.0078	0.0121	0.0118	0.0017	0	0.0046	0.0084	0	0.0174	0.0034	0.0128	0.0071	0.0056	1.0	0.00964	T	0.7	0.06090	T	0.0	0.14655	B	0.003	0.19653	B	0.176341	0.17227	N	0.574091	1	0.08975	N	1.445	0.36358	L	-4.35	0.97292	D	-3.33	0.66665	D	0.365	0.40665	-0.1257	0.79502	T	0.701	0.89709	D	10	0.01093924	0.00241	T	.	.	.	0.319	0.64112	.	.	0.718680186441	0.71620	0.11970700306402762	0.11897	0.108435841753	0.12232	0.31463265419	0.12608	T	0.098219	0.40183	T	-0.217027	0.18401	T	-0.0702409	0.65609	T	0.00687189192075251	0.00078	T	0.607039	0.22875	T	0.043427527	0.06765	0.073549464	0.15995	0.043427527	0.06765	0.073549464	0.15995	-2.124	0.09024	T	.	.	0.065	0.04517	B	.;.	.;.	0.743431	0.11128	7.773	0.41489668936329838	0.02997	0.05968	0.11927	N	AEFBCI	0.055650	0.10223	N	-1.36920547336596	0.02931	0.1301612	-1.34149227628052	0.03907	0.1832232	0.992068586426688	0.32706	0.67177	0.52595	0	0.547309	0.14657	0	0.645312	0.48771	0	0.711	0.71501	0	.	.	5.0	1.88	0.24630	1.145000	0.31189	3.127000	0.36425	-0.873000	0.02525	0.637000	0.28059	1.000000	0.68203	0.405000	0.26894	0.1613:0.1296:0.7091:0.0	8.712	0.33552	976	0.04745	.;EGF-like calcium-binding, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.015136	0.030303	0.009511	0.029240	0.000000	0.025862	0.015244	0.007634	0.05263	2415.83	38	chr1	3524189	.	G	A	2415.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.612;DP=804;ExcessHet=0.119;FS=4.323;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.5;ReadPosRankSum=1.02;SOR=0.457	GT:AD:DP:GQ:PL	0/1:39,46:85:99:1109,0,1042	17	0	2	0
chr1	3845293	3845293	T	C	exonic	CEP104	.	nonsynonymous SNV	CEP104:NM_014704:exon5:c.A485G:p.N162S	Joubert syndrome 25, Autosomal recessive	436	1084	2	0	0	2	0.000921659	.	.	.	627825	Joubert_syndrome_25	MONDO:MONDO:0014770,MedGen:C4084842,OMIM:616781,Orphanet:475	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.096	0.00885246868319	.	.	.	.	.	.	.	.	.	.	.	.	.	rs867268929	1.725e-05	1.779e-05	1.924e-05	1.525e-05	0.0037	1.184e-05	1.001e-05	0.0024	0.0021	3.021e-05	0	0	0	0	0.0037	1.815e-06	1.667e-05	0	1.313e-05	1.312e-05	2.57e-05	0	.	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0.0068	0	0	0	0.237	0.24857	T	0.378	0.22359	T	0.493	0.37004	P	0.116	0.31939	B	0.000001	0.84330	D	0.093152	0.993826	0.42066	D	0.975	0.24501	L	1.5	0.31205	T	-0.32	0.25332	N	0.204	0.22614	-1.0261	0.21723	T	0.052	0.21921	T	10	0.05524981	0.06009	T	0.008852	0.23342	T	0.096	0.27654	0.167	0.07186	0.26547132957	0.26150	0.22017581589867583	0.21933	0.140129580203	0.15799	0.39559340477	0.24454	T	0.008603	0.14269	T	-0.304688	0.08224	T	-0.67544	0.07264	T	0.414816081523895	0.29498	T	0.70513	0.33277	T	0.051557746	0.09486	0.052333444	0.08600	0.051557746	0.09486	0.052333444	0.08599	-3.158	0.11975	T	.	.	0.063	0.01491	B	.;.;.	.;.;.	1.621456	0.20713	14.87	0.91351359944371413	0.20614	0.90933	0.52537	D	AEFDBI	0.160853	0.28684	N	-0.142092978284263	0.35571	2.044921	-0.0122816895493914	0.39159	2.317632	0.143979250335894	0.17325	0.732398	0.92422	0	0.653731	0.59785	0	0.643519	0.47002	0	0.727631	0.95156	0	.	.	5.12	5.12	0.69459	1.284000	0.32855	0.037000	0.13814	0.665000	0.62972	0.915000	0.31815	0.006000	0.19429	0.834000	0.39329	0.0:0.0805:0.0:0.9195	10.227	0.42408	.	.	.;.;.	.	.	.	.	.	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	0.002520	0.005102	0.001359	0.005848	0.000000	0.008621	0.000000	0.000000	0.02632	1538.33	33	chr1	3845293	.	T	C	1538.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.024;DP=789;ExcessHet=0;FS=1.467;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.82;ReadPosRankSum=-1.517;SOR=0.818	GT:AD:DP:GQ:PL	0/1:53,67:120:99:1552,0,1233	18	0	1	0
chr1	6211085	6211085	G	A	exonic	RNF207	.	nonsynonymous SNV	RNF207:NM_207396:exon12:c.G1076A:p.R359H	.	0	224	2	0	0	2	0.00444444	.	.	.	3313215	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.021	0.0279222691451	.	0.000199681	1.223e-05	0	0	0	0	0	0	8.269e-05	1.29e-05	2	154602	rs569862855	1.998e-05	2.394e-05	2.194e-05	1.8e-05	0.0014	1.402e-05	1.212e-05	0.0007	0.0005	5.987e-05	4.507e-05	0	5.051e-05	0	0.0014	8.104e-06	4.989e-05	3.508e-05	2.626e-05	2.625e-05	1.285e-05	4.028e-05	0.0004	8.14e-06	5.14e-06	7.287e-05	3.028e-05	2.406e-05	0	0	0	0	0	0	1.47e-05	0	0.0004	0.088	0.32296	T	0.183	0.29153	T	0.05	0.22331	B	0.012	0.16012	B	0.020533	0.27020	N	0.224065	0.614297	0.81001	D	1.79	0.46772	L	2.14	0.19450	T	-1.17	0.29933	N	0.225	0.25253	-1.0590	0.12007	T	0.031	0.13374	T	10	0.053040534	0.05431	T	0.027922	0.50668	D	0.021	0.04004	0.333	0.32005	0.0716867268079	0.06686	0.5296589661153507	0.52889	0.215990113852	0.24126	0.620422840118	0.55788	T	0.002043	0.01452	T	-0.240064	0.15341	T	-0.582612	0.14313	T	0.096794384146963	0.12000	T	0.693531	0.30321	T	0.042631328	0.06500	0.030347006	0.01479	0.042631328	0.06500	0.030347006	0.01479	-3.759	0.20194	T	.	.	0.111	0.21578	B	.	.	1.987044	0.25245	16.69	0.85315456496870223	0.15817	0.34493	0.25080	N	AEFDBCI	0.184909	0.31224	N	-0.952316350819093	0.09641	0.4571592	-0.987399312723785	0.10067	0.5047579	0.993232179804363	0.33136	0.554377	0.28877	0	0.552637	0.17590	0	0.576033	0.28219	0	0.567892	0.33627	0	.	.	4.15	1.2	0.20181	2.310000	0.43368	0.149000	0.15269	0.672000	0.70159	0.523000	0.27135	0.000000	0.08366	0.003000	0.05239	0.2414:0.0:0.7586:0.0	8.584	0.32810	840	0.37365	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.001010	0.000000	0.001362	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	1251.33	41	chr1	6211085	.	G	A	1251.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.63;DP=761;ExcessHet=0;FS=0.695;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.26;ReadPosRankSum=0.047;SOR=0.775	GT:AD:DP:GQ:PL	0/1:70,52:122:99:1265,0,1657	18	0	1	0
chr1	6474053	6474053	C	T	exonic	PLEKHG5	.	nonsynonymous SNV	PLEKHG5:NM_001042664:exon7:c.G551A:p.R184H,PLEKHG5:NM_001042665:exon7:c.G551A:p.R184H,PLEKHG5:NM_001265593:exon7:c.G758A:p.R253H,PLEKHG5:NM_001265594:exon7:c.G551A:p.R184H,PLEKHG5:NM_020631:exon7:c.G551A:p.R184H,PLEKHG5:NM_001042663:exon8:c.G662A:p.R221H,PLEKHG5:NM_001265592:exon8:c.G662A:p.R221H,PLEKHG5:NM_198681:exon8:c.G551A:p.R184H	Charcot-Marie-Tooth disease, recessive intermediate C, Autosomal recessive;Spinal muscular atrophy, distal, autosomal recessive, 4, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	244286	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.210	0.491648895832	.	.	1.156e-05	0.0002	0	0	0	0	0	0	1.29e-05	2	154602	rs750080171	6.854e-06	7.524e-06	8.181e-06	5.512e-06	5.984e-05	3.47e-06	2.53e-06	9.91e-06	3.71e-06	5.984e-05	0	0	0	0	0	6.299e-06	0	1.164e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.01	0.65728	D	0.997	0.73220	D	0.901	0.63994	P	0.000662	0.42516	D	0.081067	0.764388	0.34076	D	1.78	0.46185	L	-0.46	0.70249	T	-2.12	0.48184	N	0.256	0.33030	0.198	0.85876	D	0.467	0.79416	T	10	0.2846477	0.46047	T	0.491649	0.95009	D	0.210	0.50028	0.294	0.25720	0.7147715253	0.71226	0.2915071303799954	0.29063	0.691426888625	0.60596	0.601397871971	0.53101	T	0.164062	0.50937	T	-0.0174415	0.49216	T	-0.26283	0.48540	T	0.579688966274261	0.35607	D	0.949705	0.80662	D	0.11503938	0.27150	0.11486898	0.27728	0.11503938	0.27150	0.11486898	0.27727	-6.528	0.52559	T	.	.	0.091	0.15609	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	4.234591	0.64158	24.7	0.99957606538241572	0.99986	0.20841	0.21188	N	AEFDBI	0.205875	0.33219	N	0.214489900527089	0.51901	3.367923	0.104987016714482	0.44804	2.755052	0.999035360002107	0.38264	0.67177	0.52595	0	0.588066	0.40923	0	0.645312	0.48771	0	0.711	0.71501	0	.	.	4.07	4.07	0.46726	0.950000	0.28720	5.858000	0.50403	0.576000	0.29215	0.024000	0.20007	1.000000	0.68203	0.594000	0.31239	0.0:1.0:0.0:0.0	15.024	0.71311	835	0.38313	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1001.33	35	chr1	6474053	.	C	T	1001.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.457;DP=744;ExcessHet=0;FS=6.498;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.32;ReadPosRankSum=-1.13;SOR=0.754	GT:AD:DP:GQ:PL	0/1:54,43:97:99:1015,0,1455	18	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	.	.	.	.	.	.	.	.	0.3438	775.38	34	chr1	7933282	.	T	C	775.38	.	AC=11;AF=0.344;AN=32;BaseQRankSum=-1.376;DP=684;ExcessHet=9.6465;FS=107.214;InbreedingCoeff=-0.4822;MLEAC=12;MLEAF=0.375;MQ=60;MQRankSum=0;QD=1.79;ReadPosRankSum=0.717;SOR=9.203	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:21,8:29:37:.:.:37,0,260:.	5	0	11	3
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	.	.	.	.	.	.	.	.	0.3158	12694.9	247	chr1	10326244	.	G	C	12694.9	.	AC=12;AF=0.316;AN=38;BaseQRankSum=-6.862;DP=3403;ExcessHet=11.1788;FS=253.081;InbreedingCoeff=-0.4616;MLEAC=12;MLEAF=0.316;MQ=60;MQRankSum=0;QD=4.93;ReadPosRankSum=1.26;SOR=13.474	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:176,58:234:99:0|1:10326244_G_C:295,0,5590:10326244	7	0	12	0
chr1	11782285	11782285	C	G	exonic	C1orf167	.	nonsynonymous SNV	C1orf167:NM_001010881:exon14:c.C2957G:p.A986G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.0126158872061	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1455982432	1.22e-05	9.577e-06	8.546e-06	1.599e-05	2.647e-05	7.08e-06	5.54e-06	5.5e-06	4.01e-06	0	0	0	0	0	0	1.088e-05	4.83e-05	2.647e-05	1.975e-05	1.972e-05	1.287e-05	2.694e-05	4.413e-05	5.25e-06	2.46e-06	1.172e-05	6.25e-06	0	0	0	0	0	0	0	4.413e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	0.998	0.73220	D	0.915	0.65091	D	0.090789	0.20358	N	0.258405	1	0.08975	N	1.7	0.43825	L	3.06	0.08634	T	-1.96	0.45404	N	0.089	0.06720	-1.0193	0.23943	T	0.059	0.24871	T	10	0.12064573	0.22856	T	0.012616	0.31353	T	0.052	0.14661	0.418	0.45873	0.0482279557977	0.04254	0.021418957475954466	0.02094	0.723819464558	0.62352	.	.	.	0.007233	0.06645	T	-0.327171	0.06328	T	-0.590284	0.13642	T	0.352602243423462	0.27121	T	0.451655	0.12799	T	0.031690277	0.03054	0.042341486	0.05020	0.031690277	0.03053	0.042341486	0.05020	-7.43	0.57116	T	.	.	0.190	0.40905	B	.	.	1.712977	0.21810	15.36	0.97974730928431453	0.37283	0.03170	0.08145	N	AEFDBI	0.040158	0.05933	N	-0.82945833699173	0.12561	0.6130565	-0.955716289988347	0.10791	0.5457697	0.967971436584264	0.29018	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.633917	0.49826	0	.	.	3.6	1.69	0.23290	0.092000	0.14905	0.254000	0.16463	-0.260000	0.06918	0.003000	0.16062	0.005000	0.19230	0.001000	0.02609	0.0:0.7431:0.0:0.2569	5.718	0.17238	900	0.24599	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05263	1581.81	33	chr1	11782285	.	C	G	1581.81	.	AC=2;AF=0.053;AN=38;DP=694;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=29.85;SOR=0.981	GT:AD:DP:GQ:PL	1/1:0,53:53:99:1609,159,0	18	1	0	0
chr1	12775907	12775907	A	T	exonic	PRAMEF12	.	nonsynonymous SNV	PRAMEF12:NM_001080830:exon2:c.A652T:p.I218F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.00225365485364	.	.	8.237e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs370989643	6.84e-07	6.84e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	0.42199	D	0.183	0.29153	T	0.004	0.12183	B	0.006	0.12133	B	0.454269	0.12469	N	0.757199	1	0.08975	N	-0.425	0.02884	N	2.46	0.14907	T	-1.42	0.34992	N	0.129	0.12341	-0.9868	0.33396	T	0.019	0.07753	T	10	0.06498316	0.08700	T	0.002254	0.04287	T	0.003	0.00094	0.388	0.40951	0.0762999501168	0.06990	0.3438765291253385	0.34301	0.0590795601073	0.06558	0.35508364439	0.18668	T	0.00851	0.07809	T	-0.338432	0.05498	T	-0.72391	0.04609	T	0.0815123990178108	0.10180	T	0.10009	0.00745	T	0.033668708	0.03633	0.033780407	0.02329	0.033668708	0.03633	0.033780407	0.02329	-5.491	0.41784	T	.	.	0.121	0.25100	B	.	.	0.269814	0.06474	2.952	0.85378493018438117	0.15855	0.01017	0.03829	N	AEFBI	0.025330	0.01718	N	-1.18156859703964	0.05279	0.2402677	-1.2253644719313	0.05505	0.2624752	1.1675464621636E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	2.8	0.306	0.15053	-0.376000	0.07522	-0.183000	0.11113	-0.072000	0.16302	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.6086:0.2484:0.143:0.0	3.142	0.06072	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	.	.	.	.	.	.	.	.	0.05263	11774.8	33	chr1	12775907	.	A	T	11774.8	.	AC=2;AF=0.053;AN=38;DP=1014;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=33.17;SOR=0.95	GT:AD:DP:GQ:PL	1/1:0,355:355:99:11802,1066,0	18	1	0	0
chr1	13308405	13308405	C	T	exonic	PRAMEF33	.	stopgain	PRAMEF33:NM_001291381:exon4:c.C943T:p.Q315X	.	627	870	20	5	0	30	0.0169492	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00299521	.	.	.	.	.	.	.	.	0.0037268	97	26028	rs200530087	0.0031	0.0049	0.0026	0.0035	0.0138	0.0030	0.0030	0.0131	0.0128	0.0028	0.0025	0.0023	0.0005	0.0007	0.0070	0.0023	0.0037	0.0138	0.0020	0.0028	0.0022	0.0018	0.0038	0.0018	0.0017	0.0027	0.0024	0.0032	0	0.0038	0	0.0003	0.0006	0	0.0011	0.0053	0.0021	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.573511	0.72187	25.8	0.54517735962146052	0.05154	0.00213	0.01210	N	AEFI	.	.	.	.	.	.	.	.	.	1.15806790253665E-6	0.01202	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0433295	0.02532	0.822	-0.603	0.11047	0.161000	0.16298	-4.620000	0.02066	-0.467000	0.05102	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.0:0.6908:0.0:0.3092	3.659	0.07767	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	918.33	20	chr1	13308405	.	C	T	918.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.974;DP=786;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=38.22;MQRankSum=-0.204;QD=11.2;ReadPosRankSum=-0.136;SOR=0.65	GT:AD:DP:GQ:PL	0/1:36,46:82:99:932,0,784	18	0	1	0
chr1	15559540	15559540	G	C	exonic	DNAJC16	.	nonsynonymous SNV	DNAJC16:NM_001287811:exon7:c.G102C:p.K34N,DNAJC16:NM_015291:exon8:c.G1038C:p.K346N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109	0.0328347890655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0033	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	9.11e-05	2.242e-05	0.0002	0.0002	0.0002	0	0.0003	0.0002	6.995e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.40832	T	0.002	0.83351	D	0.998	0.73220	D	0.852	0.60758	P	0.000001	0.84330	D	0.092863	0.978976	0.25213	N	2.62	0.76659	M	2.29	0.17113	T	-1.14	0.29323	N	0.808	0.81658	-1.0776	0.07821	T	0.076	0.30492	T	10	0.615474	0.67681	D	0.032835	0.54554	D	0.109	0.30843	0.288	0.24761	0.361160317528	0.35726	0.7971393182230749	0.79666	0.675634459511	0.59719	0.593763709068	0.52025	T	0.024746	0.32281	T	-0.129001	0.31658	T	-0.423077	0.30724	T	0.763135969638824	0.44033	D	0.957038	0.84692	D	0.17311552	0.38042	0.10023495	0.23959	0.17311552	0.38041	0.10023495	0.23958	-3.109	0.43915	T	.	.	0.535	0.66159	A	.;.;.;.	.;.;.;.	4.221675	0.63864	24.6	0.99651966654979685	0.77380	0.89772	0.50455	D	AEFDGBCI	0.332943	0.43219	N	0.165367727067141	0.49541	3.153414	0.114872783977894	0.45307	2.796318	0.999975053923645	0.50053	0.722319	0.85440	0	0.653731	0.59785	0	0.698795	0.65105	0	0.674467	0.66132	0	.	.	5.95	4.1	0.47196	2.185000	0.42215	3.965000	0.40779	-0.135000	0.12811	1.000000	0.71638	1.000000	0.68203	0.796000	0.37562	0.2241:0.0:0.7759:0.0	9.034	0.35440	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	.	.	.	.	.	.	.	.	0.1471	301.37	169	chr1	15559540	.	G	C	301.37	.	AC=5;AF=0.147;AN=34;BaseQRankSum=-4.195;DP=1968;ExcessHet=1.3;FS=220.707;InbreedingCoeff=-0.1892;MLEAC=5;MLEAF=0.147;MQ=60;MQRankSum=0;QD=0.43;ReadPosRankSum=1.25;SOR=11.019	GT:AD:DP:GQ:PL	0/1:104,33:137:22:22,0,2264	12	0	5	2
chr1	16023922	16023922	G	T	exonic	CLCNKA	.	nonsynonymous SNV	CLCNKA:NM_001042704:exon3:c.G223T:p.V75F,CLCNKA:NM_001257139:exon3:c.G223T:p.V75F,CLCNKA:NM_004070:exon3:c.G223T:p.V75F	Bartter syndrome, type 4b, digenic, Digenic recessive	0	1505	17	0	0	17	0.00561612	.	.	.	2805829	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.420	.	0.0002	0.00379393	0.0020	0	0.0002	0	0	0.0002	0.0011	0.0137	0.0017594	272	154602	rs200509489	0.0008	0.0008	0.0005	0.0012	0.0120	0.0008	0.0008	0.0114	0.0111	0	0.0002	0.0008	0	0	0.0023	6.835e-05	0.0010	0.0120	0.0004	0.0004	0.0002	0.0006	0.0106	0.0003	0.0003	0.0082	0.0074	0	0	0	0.0009	0	0	0	0.0001	0	0.0106	0.299	0.56456	T	0.498	0.50809	T	0.401	0.34877	B	0.211	0.37346	B	0.346608	0.13881	N	0.688144	0.999883	0.19853	N	2.105	0.58435	M	-3.11	0.94114	D	-1.5	0.36586	N	0.629	0.67045	-0.1407	0.79147	T	0.694	0.89430	D	10	0.01260379	0.00270	T	.	.	.	0.420	0.72930	.	.	0.853538057988	0.85212	0.45529462260659076	0.45447	0.471130030195	0.46381	0.35739594698	0.19005	T	0.115178	0.43357	T	-0.191541	0.22032	T	-0.0368813	0.67911	D	0.0617978158064845	0.07450	T	0.533147	0.17760	T	0.10060977	0.23757	0.0817704	0.18610	0.09987057	0.23575	0.106501006	0.25621	-4.093	0.25187	T	0.1606331514926354	0.19610	0.114	0.32541	B	.;.;.	.;.;.	2.287373	0.29252	18.06	0.89978184302987896	0.19272	0.06806	0.12830	N	AEFGBI	0.064424	0.12507	N	-0.728649471011165	0.15220	0.7651172	-0.868236933851735	0.12851	0.6633935	0.786373433937458	0.23937	0.516011	0.20929	0	0.610034	0.51514	0	0.577349	0.28860	0	0.586402	0.36253	0	.	.	3.37	1.37	0.21200	2.517000	0.45189	3.249000	0.37015	0.373000	0.20310	1.000000	0.71638	1.000000	0.68203	0.017000	0.10941	0.2419:0.2108:0.5473:0.0	3.645	0.07719	438	0.80235	.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.003021	0.005051	0.002717	0.000000	0.000000	0.000000	0.003049	0.000000	0.05263	3512.83	36	chr1	16023922	.	G	T	3512.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.189;DP=929;ExcessHet=0.119;FS=0.873;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.59;ReadPosRankSum=1.34;SOR=0.762	GT:AD:DP:GQ:PL	0/1:85,86:171:99:2076,0,2102	17	0	2	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	0.4737	51491.3	662	chr1	16563946	.	C	T	51491.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-0.392;DP=11359;ExcessHet=38.2876;FS=1.376;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=59.03;MQRankSum=-9.117;QD=4.97;ReadPosRankSum=0.26;SOR=0.583	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:502,89:591:99:.:.:1099,0,14669:.	1	0	18	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	0.4737	58952.3	662	chr1	16563989	.	G	C	58952.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-0.668;DP=14939;ExcessHet=38.2876;FS=0;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=59.58;MQRankSum=-4.89;QD=4.25;ReadPosRankSum=-0.231;SOR=0.668	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:709,125:834:99:.:.:1589,0,19703:.	1	0	18	0
chr1	16564107	16564107	T	G	exonic	NBPF1	.	unknown	UNKNOWN	.	383	318	815	6	0	827	0.565277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4042	0.4090	0.4331	0.2091	0.4092	0.4156	0.4105	0.4299	0.0114492	298	26028	rs2990551	0	0.0008	0	0	.	0	0	.	.	0	0	0	.	0	0	0	0	0	0	0.0042	0	0	.	0	0	.	.	0	.	0	0	.	0	.	0	0	0	.	.	.	0.218	0.26066	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.168	0.17828	.	.	.	.	.	.	.	0.005626291	0.00125	T	.	.	.	.	.	.	.	.	.	0.015489301517433041	0.01504	.	.	0.533775627613	0.43567	T	.	.	.	-0.499041	0.00579	T	-0.954615	0.00248	T	.	.	.	0.465553	0.17787	T	.	.	.	.	.	.	.	.	-2.062	0.03424	T	.	.	0.177	0.38676	B	.;.	.;.	-0.174163	0.03224	0.539	0.25431419136250621	0.01172	0.01395	0.04735	N	AEFDBHCI	0.031569	0.03403	N	.	.	.	.	.	.	7.84172557205885E-4	0.07810	0.383005	0.05895	0	2.97E-4	0.00021	3	0.155693	0.03940	1	0.393	0.06807	0	.	.	0.566	-0.849	0.10181	-0.576000	0.05947	-14.342000	0.00409	-0.599000	0.04621	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	497	0.76227	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.364819	0.306250	0.372283	0.388889	0.187500	0.405172	0.335714	0.360000	0.3684	71661.2	958	chr1	16564107	.	T	G	71661.2	.	AC=14;AF=0.368;AN=38;BaseQRankSum=-2.161;DP=14138;ExcessHet=17.0548;FS=0;InbreedingCoeff=-0.5833;MLEAC=14;MLEAF=0.368;MQ=55.61;MQRankSum=5.16;QD=6.56;ReadPosRankSum=0.876;SOR=0.755	GT:AD:DP:GQ:PL	0/1:424,476:900:99:13187,0,13909	5	0	14	0
chr1	16564112	16564112	G	A	exonic	NBPF1	.	unknown	UNKNOWN	.	382	776	360	4	0	368	0.191667	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0308	.	0.2106	0.0561	0.2861	0.0502	0.2065	0.2398	0.2097	0.2357	0.0002305	6	26028	rs200783506	0	0.0002	0	0	.	0	0	.	.	0	0	0	.	0	0	0	0	0	0	0.0008	0	0	.	0	0	.	.	0	.	0	0	.	0	.	0	0	0	.	.	.	0.031	0.54934	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	0.28264	.	.	.	.	.	.	.	0.0030666888	0.00051	T	.	.	.	.	.	.	.	.	.	0.05765086588271105	0.05706	.	.	0.524779081345	0.42300	T	.	.	.	-0.62494	0.00103	T	-0.595706	0.13176	T	.	.	.	0.79772	0.47570	T	.	.	.	.	.	.	.	.	-5.516	0.42017	T	.	.	0.264	0.49845	B	.;.	.;.	0.535560	0.09040	5.825	0.31427375372166372	0.01770	0.01195	0.04267	N	AEFDBHCI	0.026313	0.01952	N	.	.	.	.	.	.	5.56753264327555E-4	0.07304	0.383005	0.05895	0	2.97E-4	0.00021	3	0.155693	0.03940	1	0.393	0.06807	0	.	.	0.566	0.566	0.16501	-1.612000	0.02163	-12.383000	0.00529	-0.617000	0.04568	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	497	0.76227	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.122310	0.050633	0.116848	0.149573	0.000000	0.129310	0.113475	0.169355	0.1579	6385.4	688	chr1	16564112	.	G	A	6385.4	.	AC=6;AF=0.158;AN=38;BaseQRankSum=3.15;DP=12222;ExcessHet=2.0135;FS=0.79;InbreedingCoeff=-0.1875;MLEAC=6;MLEAF=0.158;MQ=56.12;MQRankSum=3.11;QD=1.39;ReadPosRankSum=1.26;SOR=0.749	GT:AD:DP:GQ:PL	0/1:779,96:875:99:274,0,26730	13	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	93987.4	684	chr1	16564144	.	C	T	93987.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-1.71;DP=11427;ExcessHet=48.2876;FS=0.565;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=53.33;MQRankSum=-18.63;QD=8.46;ReadPosRankSum=0.533;SOR=0.791	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:474,182:656:99:.:.:3635,0,17661:.	0	0	19	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	96026.4	662	chr1	16564149	.	C	T	96026.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=0.096;DP=10999;ExcessHet=48.2876;FS=0;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=53.16;MQRankSum=6.94;QD=8.93;ReadPosRankSum=-0.939;SOR=0.695	GT:AD:DP:GQ:PL	0/1:280,344:624:99:9018,0,9290	0	0	19	0
chr1	16567981	16567981	G	T	exonic	NBPF1	.	unknown	UNKNOWN	.	393	1124	5	0	0	5	0.00221926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00045617910242	.	.	2.582e-05	0	0.0003	0	0	0	0	0	0.0003074	8	26028	rs4661811	0.0007	0.0039	0.0007	0.0006	0.0100	0.0006	0.0006	0.0090	0.0086	0.0002	0.0100	0	3.184e-05	0	0	0.0003	0.0004	0.0001	0.0027	0.0060	0.0025	0.0030	0.0232	0.0025	0.0024	0.0210	0.0201	0.0003	0	0.0232	0	0	0.0004	0	0.0012	0.0017	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	.	.	.	.	.	.	.	.	0.02632	300.33	415	chr1	16567981	.	G	T	300.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.002;DP=8830;ExcessHet=0;FS=0.818;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=35.17;MQRankSum=-3.963;QD=0.44;ReadPosRankSum=1.02;SOR=0.807	GT:AD:DP:GQ:PL	0/1:594,85:679:99:314,0,16067	18	0	1	0
chr1	16574684	16574684	G	A	exonic	NBPF1	.	unknown	UNKNOWN	.	398	1074	4	0	46	50	0.00185874	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00797655148855	.	.	.	.	.	.	.	.	.	.	.	.	.	rs9727080	5.123e-05	0.0005	4.13e-05	6.127e-05	0.0003	4.175e-05	3.823e-05	0.0002	0.0002	0	2.258e-05	0.0002	2.561e-05	0	0	2.904e-05	0.0001	0.0003	0.0003	0.0008	0.0003	0.0003	0.0027	0.0002	0.0002	0.0015	0.0012	2.571e-05	0	0.0002	0.0003	0	0	0.0036	0.0003	0.0010	0.0027	.	.	.	0.21	0.30729	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.12913	.	.	.	.	.	.	.	0.0665735	0.09150	T	0.007977	0.21162	T	.	.	.	.	0.0401082797425	0.02173	0.00674169254771932	0.00641	.	.	0.538289189339	0.44204	T	.	.	.	-0.436369	0.01359	T	-0.86459	0.00795	T	.	.	.	0.752925	0.41649	T	.	.	.	.	.	.	.	.	-2.864	0.08788	T	.	.	0.100	0.16973	B	.;.	.;.	0.557644	0.09259	6.044	0.25570981217854921	0.01185	0.00230	0.01288	N	AEFBI	.	.	.	.	.	.	.	.	.	6.52510455814513E-5	0.04366	0.322412	0.05557	0	0.244055	0.04846	0	0.175069	0.04249	0	0.370666	0.05837	0	.	.	0.721	0.721	0.17373	0.107000	0.15212	-4.380000	0.02186	-2.692000	0.00212	0.003000	0.16062	0.000000	0.08366	0.000000	0.00833	0.0:0.0:0.3188:0.6812	4.802	0.12668	442	0.79946	.;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	.	.	.	.	.	.	.	.	0.05556	397.58	143	chr1	16574684	.	G	A	397.58	.	AC=2;AF=0.056;AN=36;BaseQRankSum=8.57;DP=2761;ExcessHet=0.119;FS=0.964;InbreedingCoeff=-0.0704;MLEAC=2;MLEAF=0.056;MQ=42.96;MQRankSum=-8.013;QD=0.57;ReadPosRankSum=-0.678;SOR=0.848	GT:AD:DP:GQ:PL	0/1:379,41:420:61:61,0,10322	16	0	2	1
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	0.3947	6040.85	31	chr1	16579293	.	A	G	6040.85	.	AC=15;AF=0.395;AN=38;BaseQRankSum=1.77;DP=1318;ExcessHet=20.8569;FS=134.742;InbreedingCoeff=-0.6523;MLEAC=15;MLEAF=0.395;MQ=36.18;MQRankSum=0.737;QD=5.79;ReadPosRankSum=-1.129;SOR=6.448	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:48,20:68:99:0|1:16579293_A_G:647,0,1956:16579293	4	0	15	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	0.3947	6040.85	31	chr1	16579294	.	T	C	6040.85	.	AC=15;AF=0.395;AN=38;BaseQRankSum=-5.638;DP=1314;ExcessHet=20.8569;FS=134.742;InbreedingCoeff=-0.6523;MLEAC=15;MLEAF=0.395;MQ=36.15;MQRankSum=0.737;QD=5.79;ReadPosRankSum=-1.044;SOR=6.448	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:48,20:68:99:0|1:16579293_A_G:647,0,1956:16579293	4	0	15	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	0.3421	3927.26	26	chr1	16579305	.	G	A	3927.26	.	AC=13;AF=0.342;AN=38;BaseQRankSum=3.46;DP=1255;ExcessHet=13.8672;FS=130.665;InbreedingCoeff=-0.52;MLEAC=13;MLEAF=0.342;MQ=36.03;MQRankSum=0.61;QD=4.49;ReadPosRankSum=-0.348;SOR=6.491	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:48,16:64:99:.:.:515,0,1416:.	6	0	13	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	0.2895	1867.3	26	chr1	16579308	.	G	C	1867.3	.	AC=11;AF=0.289;AN=38;BaseQRankSum=0.811;DP=1250;ExcessHet=8.9063;FS=99.423;InbreedingCoeff=-0.4082;MLEAC=11;MLEAF=0.289;MQ=35.97;MQRankSum=0.588;QD=2.62;ReadPosRankSum=-0.44;SOR=7.204	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:51,13:64:99:.:.:344,0,2085:.	8	0	11	0
chr1	16582562	16582562	A	C	exonic	NBPF1	.	unknown	UNKNOWN	.	417	1077	28	0	0	28	0.0128323	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4754	0.4827	0.4804	0.4601	0.4654	0.4720	0.4739	0.4927	0.0005379	14	26028	rs202075504	0.0001	0.0042	0.0001	0.0001	0.0003	0.0001	0.0001	0.0001	0.0001	8.107e-05	0.0003	0.0003	0	0.0002	0	0.0001	0.0002	1.407e-05	0.0002	0.0037	0.0002	0.0002	0.0001	0.0001	0.0001	2.923e-05	1.914e-05	5.017e-05	0	0.0001	0	0	0.0016	0	7.615e-05	0	0	.	.	.	0.653	0.06762	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.02964	.	.	.	.	.	.	.	0.0016178787	0.00019	T	.	.	.	.	.	.	.	.	.	0.041448114611802936	0.04089	.	.	0.573401212692	0.49158	T	.	.	.	-0.615897	0.00117	T	-1.12247	0.00017	T	.	.	.	0.490951	0.15096	T	.	.	.	.	.	.	.	.	-6.392	0.49448	T	.	.	0.057	0.00563	B	.;.	.;.	-0.393675	0.02236	0.227	0.38224358324587865	0.02565	0.00012	0.00170	N	AEFBI	0.020308	0.00789	N	.	.	.	.	.	.	3.41978884559381E-4	0.06626	0.163922	0.03765	0	0.096583	0.02683	0	0.175069	0.04249	0	0.24341	0.04801	0	.	.	0.783	-0.345	0.11997	-1.666000	0.02065	-13.491000	0.00455	-2.340000	0.00311	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4969:0.3097:0.0:0.1934	2.485	0.04316	448	0.79501	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	62.39	66	chr1	16582562	.	A	C	62.39	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.33;DP=1154;ExcessHet=0;FS=26.242;InbreedingCoeff=-0.0308;MLEAC=1;MLEAF=0.026;MQ=42.52;MQRankSum=-1.801;QD=1.01;ReadPosRankSum=-2.329;SOR=3.615	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:56,6:62:76:0|1:16582562_A_C:76,0,2281:16582562	18	0	1	0
chr1	16582566	16582566	T	G	exonic	NBPF1	.	unknown	UNKNOWN	.	417	1073	32	0	0	32	0.0146924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4756	0.4830	0.4809	0.4604	0.4656	0.4722	0.475	0.4928	0.0005379	14	26028	rs200499873	5.467e-05	0.0033	5.252e-05	5.678e-05	8.616e-05	4.305e-05	3.942e-05	4.225e-05	3.763e-05	0	8.616e-05	0.0001	0	6.108e-05	0	5.576e-05	0.0001	0	9.485e-05	0.0031	0.0001	6.953e-05	0.0002	5.693e-05	4.594e-05	8.22e-06	3.08e-06	4.962e-05	0	6.813e-05	0	0	0.0009	0	1.51e-05	0	0.0002	.	.	.	0.516	0.16522	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	0.08786	.	.	.	.	.	.	.	0.0016776323	0.00021	T	.	.	.	.	.	.	.	.	.	0.04361887031632314	0.04306	.	.	0.572986721992	0.49099	T	.	.	.	-0.605691	0.00135	T	-1.10781	0.00023	T	.	.	.	0.876612	0.58915	D	.	.	.	.	.	.	.	.	-6.598	0.51038	T	.	.	0.125	0.26263	B	.;.	.;.	-0.141115	0.03405	0.616	0.36035183622711708	0.02295	0.00012	0.00170	N	AEFBI	0.018223	0.00537	N	.	.	.	.	.	.	6.88243859610788E-5	0.04366	0.163922	0.03765	0	0.096583	0.02683	0	0.175069	0.04249	0	0.24341	0.04801	0	.	.	0.783	0.783	0.17717	-0.435000	0.07000	-5.842000	0.01578	-0.868000	0.02581	0.011000	0.18532	0.000000	0.08366	0.007000	0.07825	0.0:0.0:0.4062:0.5938	5.184	0.14502	448	0.79501	.;.	.	.	.	.	.	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	0.006517	0.000000	0.006812	0.011111	0.000000	0.008929	0.010949	0.004000	0.02632	71.37	63	chr1	16582566	.	T	G	71.37	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.294;DP=1143;ExcessHet=0;FS=25.884;InbreedingCoeff=-0.0295;MLEAC=1;MLEAF=0.026;MQ=42.15;MQRankSum=-1.673;QD=1.21;ReadPosRankSum=-2.521;SOR=3.627	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:53,6:59:85:0|1:16582562_A_C:85,0,2187:16582562	18	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	.	.	.	.	.	.	.	.	0.2368	10174.8	362	chr1	16757526	.	C	G	10174.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-1.788;DP=7182;ExcessHet=5.3738;FS=0;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=40.73;MQRankSum=-1.674;QD=3.1;ReadPosRankSum=0.131;SOR=0.642	GT:AD:DP:GQ:PL	0/1:342,71:413:99:1043,0,9484	10	0	9	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6579	11605.2	33	chr1	16759590	.	G	GC	11605.2	.	AC=25;AF=0.658;AN=38;BaseQRankSum=4.81;DP=1524;ExcessHet=5.6906;FS=11.534;InbreedingCoeff=-0.2845;MLEAC=25;MLEAF=0.658;MQ=44.88;MQRankSum=-2.822;QD=9.07;ReadPosRankSum=-3.116;SOR=0.816	GT:AD:DP:GQ:PL	1/1:0,17:17:51:595,51,0	1	7	11	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	.	.	.	.	.	.	.	.	0.2632	6194.53	158	chr1	16760446	.	C	T	6194.53	.	AC=10;AF=0.263;AN=38;BaseQRankSum=2.09;DP=4206;ExcessHet=6.9875;FS=15.967;InbreedingCoeff=-0.3571;MLEAC=10;MLEAF=0.263;MQ=44.64;MQRankSum=-0.667;QD=2.69;ReadPosRankSum=0.492;SOR=1.882	GT:AD:DP:GQ:PL	0/1:177,33:210:99:425,0,4660	9	0	10	0
chr1	16760964	16760964	A	G	exonic	MST1L	.	nonsynonymous SNV	MST1L:NM_001271733:exon2:c.T206C:p.M69T	.	338	890	294	0	0	294	0.141755	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	.	.	.	0.1542	0.1357	0.2256	0.0314	0.1520	0.1481	0.1473	0.2082	0.121253	18746	154602	rs11576695	6.842e-07	2.599e-05	1.362e-06	0	8.995e-07	0	0	.	.	0	0	0	0	0	0	8.995e-07	0	0	6.568e-06	5.909e-05	0	1.344e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-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	.	.	.	.	.	.	.	.	0.1316	6483.37	502	chr1	16760964	.	A	G	6483.37	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-1.242;DP=11036;ExcessHet=1.3;FS=0;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=57.29;MQRankSum=-1.517;QD=2.3;ReadPosRankSum=0.031;SOR=0.697	GT:AD:DP:GQ:PL	0/1:620,104:724:99:1022,0,20867	14	0	5	0
chr1	16936809	16936809	C	T	exonic	CROCC	.	nonsynonymous SNV	CROCC:NM_014675:exon9:c.C1129T:p.R377C	.	419	1101	2	0	0	2	0.000907441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.00591123459944	.	.	0.0001	0	8.724e-05	0	0	0	0	0.0009	0.0001035	16	154602	rs752617403	7.467e-05	7.867e-05	5.453e-05	9.501e-05	0.0009	6.324e-05	5.881e-05	0.0008	0.0007	0	2.237e-05	0	0	0	0	2.069e-05	9.955e-05	0.0009	5.25e-05	5.249e-05	1.284e-05	9.393e-05	0.0012	2.554e-05	1.828e-05	0.0005	0.0004	0	0	6.53e-05	0	0	0	0	1.47e-05	0	0.0012	0.004	0.65419	D	0.048	0.48594	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.82	0.10871	T	-1.25	0.31576	N	0.177	0.19055	-0.9768	0.35727	T	0.017	0.07140	T	9	0.017435938	0.00372	T	0.005911	0.15400	T	0.012	0.01476	0.261	0.20473	0.143124449307	0.13826	0.0433917446449198	0.04284	0.0517263259059	0.05692	0.203333362937	0.00560	T	0.033974	0.23133	T	-0.536253	0.00353	T	-0.62485	0.10808	T	0.0513544960931954	0.05736	T	0.690631	0.30012	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.18456	B	.;.	.;.	2.209277	0.28181	17.71	0.98879390497541109	0.47788	0.12622	0.17380	N	AEFGBI	0.090375	0.18314	N	-0.910597894264388	0.10592	0.5069533	-0.929348910245015	0.11403	0.5807331	0.0143932010687393	0.12590	0.706548	0.73137	0	0.588066	0.40923	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	3.54	1.67	0.23149	0.803000	0.26744	1.347000	0.25779	0.599000	0.40250	0.002000	0.15269	0.003000	0.18671	0.032000	0.13371	0.1723:0.6262:0.0:0.2015	4.806	0.12686	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	0.000550	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	579.33	41	chr1	16936809	.	C	T	579.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.804;DP=676;ExcessHet=0;FS=1.177;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.59;ReadPosRankSum=0.721;SOR=0.458	GT:AD:DP:GQ:PL	0/1:20,26:46:99:593,0,478	18	0	1	0
chr1	19148583	19148583	C	T	exonic	UBR4	.	nonsynonymous SNV	UBR4:NM_020765:exon50:c.G7474A:p.V2492I	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	0.00546704469712	.	.	8.239e-06	0	0	0	0	1.499e-05	0	0	1.94e-05	3	154602	rs61759877	2.873e-05	2.873e-05	3.403e-05	2.338e-05	0.0002	2.151e-05	1.908e-05	2.37e-05	2.103e-05	2.987e-05	0	0	5.038e-05	1.872e-05	0.0002	3.237e-05	0	1.159e-05	1.969e-05	1.968e-05	0	4.028e-05	6.536e-05	5.24e-06	2.45e-06	7.97e-06	2.98e-06	4.809e-05	0	6.536e-05	0	0	0	0	0	0	0	0.051	0.41364	T	.	.	.	0.984	0.60733	D	0.786	0.57542	P	0.000019	0.62929	D	0.068468	0.999273	0.46519	D	0.55	0.14455	N	1.9	0.23486	T	0.22	0.06138	N	0.268	0.30347	-1.1296	0.01801	T	0.074	0.29992	T	10	0.16216591	0.30399	T	0.005467	0.14075	T	0.104	0.29647	0.184	0.09259	0.043077524339	0.03247	0.13521233406557595	0.13445	0.35137811261	0.36978	0.567926883698	0.48385	T	0.113531	0.43064	T	-0.353836	0.04491	T	-0.520335	0.20261	T	0.179657131726074	0.19213	T	0.886711	0.61387	D	0.05942053	0.12075	0.07214782	0.15532	0.05942053	0.12074	0.07214782	0.15531	-3.822	0.21134	T	.	.	0.073	0.22318	B	.;.;.	.;.;.	4.035013	0.59692	24.1	0.99184591680254874	0.54789	0.96571	0.69807	D	AEFDGBI	0.219733	0.34458	N	0.355337207478449	0.59022	4.078347	0.408406707604432	0.62088	4.418469	0.999997516085046	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.3	5.3	0.74745	2.982000	0.49027	7.689000	0.65692	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.1526:0.8473:0.0:0.0	13.874	0.63139	867	0.32089	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1449.33	35	chr1	19148583	.	C	T	1449.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.967;DP=809;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.88;ReadPosRankSum=0.484;SOR=0.639	GT:AD:DP:GQ:PL	0/1:55,67:122:99:1463,0,1334	18	0	1	0
chr1	19241081	19241081	C	T	exonic	EMC1	.	nonsynonymous SNV	EMC1:NM_001271429:exon5:c.G505A:p.V169I,EMC1:NM_001271427:exon6:c.G571A:p.V191I,EMC1:NM_001271428:exon6:c.G571A:p.V191I,EMC1:NM_001375820:exon6:c.G571A:p.V191I,EMC1:NM_001375821:exon6:c.G571A:p.V191I,EMC1:NM_015047:exon6:c.G571A:p.V191I	Cerebellar atrophy, visual impairment, and psychomotor retardation, Autosomal recessive	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.108	0.00405222346217	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.565e-06	6.561e-06	0	1.343e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.498	0.08237	T	0.432	0.16280	T	0.051	0.22415	B	0.027	0.21085	B	0.177804	0.17186	N	0.617291	1	0.08975	N	1.01	0.25309	L	1.51	0.39990	T	-0.24	0.12283	N	0.097	0.09066	-1.0352	0.18794	T	0.058	0.24465	T	10	0.050166994	0.04709	T	0.004052	0.09650	T	0.108	0.30607	0.557	0.67547	0.225902525712	0.22197	0.08703749602051532	0.08637	0.252110570598	0.27777	0.265731453896	0.05592	T	0.002878	0.02278	T	-0.344713	0.05068	T	-0.732933	0.04195	T	0.0249119517280271	0.01261	T	0.843016	0.53646	T	0.025606	0.01518	0.030513069	0.01517	0.025606	0.01518	0.030513069	0.01517	-4.134	0.25789	T	0.2381981153695485	0.32261	0.072	0.06341	B	.;.;.	.;.;.	0.438756	0.08091	4.816	0.8865439610703818	0.18147	0.25091	0.22594	N	AEFDGBCI	0.052000	0.09241	N	-0.957655179195126	0.09522	0.4510181	-0.964088325012384	0.10598	0.5347765	0.99963051140652	0.41205	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.71	-2.25	0.06498	-0.730000	0.05019	-0.699000	0.07803	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.993000	0.69303	0.0:0.3232:0.339:0.3379	6.043	0.18972	779	0.47767	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1642.33	33	chr1	19241081	.	C	T	1642.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.103;DP=766;ExcessHet=0;FS=0.597;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.66;ReadPosRankSum=-0.208;SOR=0.6	GT:AD:DP:GQ:PL	0/1:78,76:154:99:1656,0,1906	18	0	1	0
chr1	20941851	20941851	C	T	exonic	EIF4G3	.	nonsynonymous SNV	EIF4G3:NM_003760:exon9:c.G1135A:p.E379K,EIF4G3:NM_001198801:exon11:c.G1132A:p.E378K,EIF4G3:NM_001198802:exon12:c.G1153A:p.E385K,EIF4G3:NM_001198803:exon12:c.G1168A:p.E390K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.162	0.0145515754683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	0	2.75e-06	8.993e-07	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.993e-07	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.276	0.45744	T	0.877	0.48223	P	0.257	0.39298	B	0.002422	0.36574	N	0.273029	0.99996	0.81001	D	1.995	0.54099	M	1.96	0.22270	T	-0.7	0.19933	N	0.471	0.50688	-1.1133	0.02801	T	0.085	0.33128	T	10	0.2741444	0.44967	T	0.014552	0.34740	T	0.162	0.41843	0.396	0.42262	0.372852800391	0.36900	0.4314676345023133	0.43063	0.673703268279	0.59604	0.556905686855	0.46831	T	0.066206	0.32886	T	0.0285489	0.55529	T	-0.196768	0.54953	T	0.74482100063323	0.42999	D	0.975602	0.91418	D	0.11005329	0.26015	0.10611806	0.25522	0.11005329	0.26015	0.10611806	0.25521	-5.496	0.44540	T	.	.	0.126	0.60936	B	.;.;.;.;.	.;.;.;.;.	4.312393	0.65933	24.9	0.99925835285536457	0.99042	0.97129	0.72859	D	AEFBI	0.613241	0.60100	D	0.537694057187447	0.69337	5.342475	0.623315558031983	0.76636	6.527797	0.997820136740615	0.36074	0.706548	0.73137	0	0.724815	0.89359	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	6.06	6.06	0.98340	5.243000	0.65217	6.034000	0.52951	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	18.809	0.92016	686	0.59327	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2423.33	36	chr1	20941851	.	C	T	2423.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.782;DP=813;ExcessHet=0;FS=2.6;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.39;ReadPosRankSum=0.575;SOR=0.499	GT:AD:DP:GQ:PL	0/1:86,95:181:99:2437,0,2409	18	0	1	0
chr1	21238138	21238138	C	T	exonic	ECE1	.	nonsynonymous SNV	ECE1:NM_001113347:exon9:c.G1349A:p.S450N,ECE1:NM_001113349:exon10:c.G1376A:p.S459N,ECE1:NM_001113348:exon11:c.G1337A:p.S446N,ECE1:NM_001397:exon11:c.G1385A:p.S462N	.	0	1509	13	0	0	13	0.00428901	.	.	.	249709	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.082	0.0136730346543	0.0029	0.00219649	0.0030	0.0014	0.0012	0	0.0008	0.0042	0.0022	0.0027	0.0031565	488	154602	rs141146885	0.0047	0.0048	0.0049	0.0046	0.0057	0.0046	0.0046	0.0056	0.0055	0.0008	0.0021	0.0022	0	0.0007	0.0024	0.0057	0.0037	0.0019	0.0033	0.0033	0.0039	0.0028	0.0052	0.0031	0.0030	0.0048	0.0046	0.0011	0.0439	0.0023	0.0020	0	0.0008	0	0.0052	0.0047	0.0019	0.383	0.14793	T	0.415	0.15305	T	0.0	0.02946	B	0.0	0.04355	B	0.037610	0.24381	N	0.508327	0.988695	0.24382	N	-0.055	0.04927	N	-0.79	0.73739	T	-0.65	0.20145	N	0.085	0.10626	-1.0541	0.13278	T	0.100	0.37265	T	10	0.0057007372	0.00127	T	0.013673	0.33248	T	0.082	0.23913	.	.	0.256237801699	0.25221	0.37178015656178914	0.37092	0.539398488263	0.51172	0.328603953123	0.14722	T	0.186706	0.54008	T	-0.588258	0.00172	T	-0.611229	0.11885	T	0.00204115745109703	0.00021	T	0.728927	0.36808	T	0.057204656	0.11356	0.05784996	0.10590	0.07784044	0.17692	0.06402025	0.12767	-3.884	0.32121	T	0.10285320044975772	0.07865	0.055	0.00647	B	.;.;.;.;.;.	.;.;.;.;.;.	1.411872	0.18276	13.65	0.85322012358596189	0.15821	0.23980	0.22249	N	AEFDGBHCI	0.095255	0.19248	N	-0.765677098490011	0.14212	0.7060748	-0.600060566350599	0.19491	1.045999	0.999424051776111	0.39630	0.706548	0.73137	0	0.724815	0.89359	0	0.658105	0.52812	0	0.711	0.71501	0	.	.	5.55	0.51	0.16183	1.049000	0.30001	0.450000	0.18513	-0.181000	0.10308	0.998000	0.41325	0.998000	0.33993	0.905000	0.44082	0.1351:0.2448:0.14:0.4801	1.278	0.01912	315	0.87208	.;.;Peptidase M13, N-terminal domain;Peptidase M13, N-terminal domain;Peptidase M13, N-terminal domain;Peptidase M13, N-terminal 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	1	0	1	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.009146	0.000000	0.02632	1206.33	33	chr1	21238138	.	C	T	1206.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.243;DP=724;ExcessHet=0;FS=0.787;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.97;ReadPosRankSum=-0.828;SOR=0.546	GT:AD:DP:GQ:PL	0/1:41,52:93:99:1220,0,1043	18	0	1	0
chr1	21981079	21981079	G	T	exonic	CELA3B	.	nonsynonymous SNV	CELA3B:NM_007352:exon4:c.G269T:p.R90L	.	426	1091	5	0	0	5	0.00228624	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.266	0.0197198586613	0.0008	0.000199681	0.0009	9.612e-05	0.0002	0.0001	0.0002	0.0008	0.0011	0.0035	0.0008085	125	154602	rs149443835	0.0006	0.0006	0.0004	0.0007	0.0039	0.0005	0.0005	0.0036	0.0035	0	0.0002	0.0045	0.0001	3.744e-05	0.0007	0.0003	0.0007	0.0039	0.0005	0.0005	0.0005	0.0005	0.0033	0.0004	0.0004	0.0021	0.0017	7.218e-05	0	0.0002	0.0061	0	0	0.0068	0.0004	0.0009	0.0033	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.169819	0.17408	N	0.536026	0.999996	0.08975	N	-0.59	0.02258	N	-2.24	0.87194	D	-0.15	0.09297	N	0.142	0.14196	-0.8518	0.51844	T	0.241	0.60869	T	10	0.005612254	0.00124	T	0.01972	0.42154	T	0.266	0.57999	.	.	0.310458034454	0.30648	0.5725922592519525	0.57187	0.206552446464	0.23080	0.296506106853	0.09882	T	0.045023	0.26995	T	-0.34552	0.05015	T	-0.270882	0.47732	T	0.00190717742966601	0.00019	T	0.430157	0.11673	T	0.043671828	0.06848	0.06032277	0.11469	0.043671828	0.06848	0.06032277	0.11469	-5.109	0.38002	T	.	.	0.294	0.52524	B	.	.	0.431279	0.08017	4.735	0.62032878570771322	0.06859	0.09038	0.14872	N	AEFBCI	0.106334	0.21220	N	-1.41361821662513	0.02518	0.1113207	-1.28977215362319	0.04568	0.2157513	3.17237877627778E-5	0.03775	0.525926	0.21836	0	0.547309	0.14657	0	0.578056	0.29568	0	0.584449	0.35598	0	.	.	4.89	2.99	0.33673	2.138000	0.41764	0.044000	0.13909	-1.121000	0.01472	0.130000	0.23345	0.000000	0.08366	0.001000	0.02609	0.0815:0.0:0.6424:0.2762	8.219	0.30690	788	0.46569	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	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	766.33	40	chr1	21981079	.	G	T	766.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.44;DP=850;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.9;MQRankSum=-1.438;QD=8.15;ReadPosRankSum=2.4;SOR=0.714	GT:AD:DP:GQ:PL	0/1:64,30:94:99:780,0,1738	18	0	1	0
chr1	26282357	26282367	CTGGGGCCGGG	0	exonic	UBXN11	.	.	.	.	386	373	210	27	526	790	0.261386	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	7332.91	43	chr1	26282357	.	CTGGGGCCGGG	*	7332.91	.	AC=14;AF=0.368;AN=38;BaseQRankSum=1.79;DP=974;ExcessHet=0.0637;FS=12.324;InbreedingCoeff=0.3518;MLEAC=14;MLEAF=0.368;MQ=60;MQRankSum=0;QD=11.37;ReadPosRankSum=0.699;SOR=1.5	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:37,14:51:99:0|1:26282334_TGGGGCCG_T:371,0,1382:26282334	9	4	6	0
chr1	26282380	26282382	ACT	0	exonic	UBXN11	.	.	.	.	398	787	290	46	1	383	0.195297	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4615	1020.95	37	chr1	26282380	.	ACT	*	1020.95	.	AC=12;AF=0.462;AN=26;BaseQRankSum=0.818;DP=1059;ExcessHet=0.0278;FS=14.798;InbreedingCoeff=0.1363;MLEAC=15;MLEAF=0.577;MQ=60;MQRankSum=0;QD=1.79;ReadPosRankSum=0.069;SOR=0.19	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:25,32:60:99:0|1:26282374_ACC_A:1245,0,1037:26282374	5	4	4	6
chr1	26282383	26282405	GGGGCCGGGACCGGGACCGGGAC	0	exonic	UBXN11	.	.	.	.	382	803	290	46	1	383	0.192153	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	993.49	37	chr1	26282383	.	GGGGCCGGGACCGGGACCGGGAC	*	993.49	.	AC=12;AF=0.429;AN=28;BaseQRankSum=0.041;DP=1069;ExcessHet=0.0278;FS=15.846;InbreedingCoeff=0.1828;MLEAC=14;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.71;ReadPosRankSum=-0.087;SOR=0.188	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:25,32:60:99:0|1:26282374_ACC_A:1245,0,1037:26282374	6	4	4	5
chr1	26282386	26282392	GCCGGGA	0	exonic	UBXN11	.	.	.	.	476	531	212	27	276	542	0.200301	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4062	7050.5	37	chr1	26282386	.	GCCGGGA	*	7050.5	.	AC=13;AF=0.406;AN=32;BaseQRankSum=0.405;DP=1110;ExcessHet=0.1862;FS=10.987;InbreedingCoeff=0.0738;MLEAC=14;MLEAF=0.438;MQ=60;MQRankSum=0;QD=8.38;ReadPosRankSum=1.39;SOR=0.236	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:25,32:60:99:0|1:26282374_ACC_A:1245,0,1037:26282374	7	4	5	3
chr1	27382550	27382550	G	A	exonic	CD164L2	.	nonsynonymous SNV	CD164L2:NM_001330448:exon2:c.C206T:p.A69V,CD164L2:NM_207397:exon2:c.C206T:p.A69V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.153	0.0266706934812	.	.	5.811e-05	0	8.681e-05	0	0	0	0.0011	0.0003	4.53e-05	7	154602	rs752238611	2.737e-05	2.805e-05	2.042e-05	3.438e-05	0.0003	2.063e-05	1.816e-05	0.0002	0.0002	2.987e-05	0	3.828e-05	2.519e-05	0	0.0002	6.295e-06	3.313e-05	0.0003	1.973e-05	1.97e-05	0	4.038e-05	7.249e-05	5.24e-06	2.46e-06	1.922e-05	1.033e-05	7.249e-05	0	0	0	0	0	0	0	0	0	0.056	0.38407	T	0.282	0.21745	T	0.995	0.67487	D	0.867	0.61644	P	0.004549	0.33627	N	0.137340	0.999301	0.21385	N	1.83	0.48079	L	0.78	0.49358	T	-0.8	0.22078	N	0.398	0.43899	-0.8566	0.51505	T	0.208	0.56690	T	10	0.2749509	0.45050	T	0.026671	0.49557	D	0.153	0.40148	0.463	0.53242	0.428976297845	0.42518	0.23753529275139842	0.23668	0.522732140916	0.49992	0.364011764526	0.19968	T	0.005945	0.05383	T	-0.308577	0.07874	T	-0.35906	0.38161	T	0.257726091041467	0.23215	T	0.785921	0.42389	T	0.14123851	0.32553	0.21273972	0.45756	0.14123851	0.32553	0.21273972	0.45755	-4.166	0.26257	T	.	.	0.094	0.14660	B	.;.	.;.	2.908509	0.38574	20.8	0.99896634484330127	0.96971	0.28080	0.23455	N	AEFBI	0.157824	0.28340	N	0.234765584190659	0.52888	3.460525	0.130912670518095	0.46137	2.864783	0.999998187891892	0.74766	0.676563	0.55306	0	0.547309	0.14657	0	0.673471	0.61138	0	0.542086	0.14980	0	.	.	4.64	4.64	0.57399	2.568000	0.45628	5.001000	0.46597	0.676000	0.76740	0.354000	0.25792	0.999000	0.35428	0.046000	0.14843	0.0:0.0:1.0:0.0	12.878	0.57391	624	0.65661	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	825.33	126	chr1	27382550	.	G	A	825.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.346;DP=1623;ExcessHet=0;FS=6.2;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.31;ReadPosRankSum=-1.149;SOR=1.667	GT:AD:DP:GQ:PL	0/1:32,30:62:99:839,0,910	18	0	1	0
chr1	32770882	32770882	G	A	exonic	KIAA1522	.	nonsynonymous SNV	KIAA1522:NM_001198972:exon6:c.G1526A:p.R509Q,KIAA1522:NM_001369553:exon6:c.G1559A:p.R520Q,KIAA1522:NM_020888:exon6:c.G1703A:p.R568Q	.	426	1076	20	0	0	20	0.0092081	.	.	.	2812595	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.025	0.0089641833956	0.0048	0.00239617	0.0045	0.0012	0.0033	0	0.0018	0.0070	0.0093	0.0007	0.0041073	635	154602	rs138055320	0.0060	0.0060	0.0060	0.0060	0.0099	0.0059	0.0058	0.0079	0.0071	0.0009	0.0030	0.0122	2.52e-05	0.0009	0.0099	0.0069	0.0067	0.0006	0.0045	0.0045	0.0049	0.0042	0.0076	0.0042	0.0041	0.0071	0.0069	0.0013	0.0099	0.0037	0.0098	0	0.0007	0.0068	0.0076	0.0038	0.0004	0.171	0.23271	T	0.509	0.10857	T	0.109	0.26142	B	0.006	0.12133	B	0.028978	0.25522	N	0.253773	1	0.08975	N	1.445	0.36358	L	2.74	0.11839	T	-0.25	0.11008	N	0.236	0.27077	-0.9729	0.36583	T	0.013	0.04938	T	10	0.0036666095	0.00067	T	0.008964	0.23607	T	0.025	0.05312	.	.	0.0934897674506	0.08844	0.4001765116113369	0.39932	0.136235181936	0.15368	0.520894646645	0.41753	T	0.001507	0.00951	T	-0.661983	0.00061	T	-0.720222	0.04785	T	0.00430254910200466	0.00046	T	0.789121	0.42899	T	0.03285861	0.03392	0.03633452	0.03060	0.03285861	0.03391	0.03633452	0.03059	-3.276	0.13429	T	.	.	0.091	0.17488	B	.;.;.	.;.;.	2.562729	0.33191	19.27	0.9715571769007223	0.32607	0.22642	0.21815	N	AEFDBCI	0.092035	0.18636	N	-0.47588118031669	0.22873	1.224379	-0.336581876189434	0.26927	1.490688	0.999948965748003	0.47345	0.651	0.46895	0	0.588066	0.40923	0	0.26897	0.05253	2	0.683762	0.67416	0	.	.	4.12	2.21	0.27042	0.938000	0.28562	4.354000	0.43097	-0.104000	0.15758	0.853000	0.30494	1.000000	0.68203	0.836000	0.39433	0.1587:0.1726:0.6687:0.0	6.163	0.19588	310	0.87484	.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.010121	0.010417	0.010870	0.002941	0.000000	0.008621	0.009202	0.007576	0.02632	593.33	62	chr1	32770882	.	G	A	593.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.18;DP=774;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.42;ReadPosRankSum=-1.341;SOR=0.682	GT:AD:DP:GQ:PL	0/1:37,26:63:99:607,0,857	18	0	1	0
chr1	33864375	33864375	G	C	exonic	HMGB4	.	nonsynonymous SNV	HMGB4:NM_001379301:exon1:c.G184C:p.A62P,HMGB4:NM_145205:exon2:c.G184C:p.A62P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.280	0.0172210765845	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.371e-05	0.0001	1.365e-05	1.378e-05	1.713e-05	8.95e-06	7.28e-06	1.095e-05	8.83e-06	0	0	0	0	0	0	1.713e-05	1.659e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.261	0.22962	T	.	.	.	.	.	.	0.002268	0.36887	N	0.232725	1	0.81001	D	2.925	0.84406	M	2.53	0.14038	T	-0.41	0.14000	N	0.298	0.33796	-0.9447	0.41863	T	0.096	0.36133	T	10	0.31336057	0.48787	T	0.017221	0.38829	T	0.280	0.59740	0.541	0.65304	0.665216195492	0.66240	0.5095415917327302	0.50876	0.0542822596113	0.05997	0.469324588776	0.34587	T	0.075125	0.35104	T	-0.0955755	0.37154	T	-0.375064	0.36297	T	0.896214962005615	0.54790	D	0.717028	0.32946	T	0.66919404	0.76389	0.69928217	0.82285	0.66919404	0.76391	0.69928217	0.82286	-9.75	0.72402	D	.	.	0.907	0.85273	P	.;.	.;.	3.846529	0.55689	23.6	0.99787954193147543	0.87396	0.97583	0.75704	D	AEFBI	0.698134	0.65591	D	0.515974743748389	0.68034	5.161935	0.389533307943009	0.60919	4.285059	0.975632487977862	0.29651	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.58	3.69	0.41483	3.461000	0.52800	7.273000	0.57997	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.924000	0.46004	0.0875:0.1685:0.744:0.0	7.420	0.26238	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	.	.	.	.	.	.	.	.	0.1333	171.76	77	chr1	33864375	.	G	C	171.76	.	AC=4;AF=0.133;AN=30;BaseQRankSum=-3.921;DP=2276;ExcessHet=0.7564;FS=275.066;InbreedingCoeff=-0.1985;MLEAC=5;MLEAF=0.167;MQ=60;MQRankSum=0;QD=0.38;ReadPosRankSum=-0.121;SOR=11.912	GT:AD:DP:GQ:PL	0/1:94,37:131:32:32,0,1917	11	0	4	4
chr1	40301270	40301270	G	A	exonic	COL9A2	.	nonsynonymous SNV	COL9A2:NM_001852:exon32:c.C1982T:p.P661L	Epiphyseal dysplasia, multiple, 2, Autosomal dominant	0	1520	2	0	0	2	0.000657462	.	.	.	193939	not_specified|Connective_tissue_disorder|not_provided|Epiphyseal_dysplasia,_multiple,_2	MedGen:CN169374|MONDO:MONDO:0003900,MedGen:C0009782|MedGen:C3661900|MONDO:MONDO:0010844,MedGen:C1838429,OMIM:600204	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.730	0.565682286064	0.0034	0.000599042	0.0024	0.0011	0.0007	0	0.0005	0.0039	0	0.0006	0.0023609	365	154602	rs150687987	0.0028	0.0028	0.0028	0.0028	0.0034	0.0027	0.0027	0.0033	0.0033	0.0004	0.0006	0.0030	0	0.0004	0.0003	0.0034	0.0023	0.0005	0.0023	0.0023	0.0024	0.0022	0.0035	0.0021	0.0020	0.0031	0.0030	0.0008	0.0639	0.0005	0.0035	0	9.411e-05	0	0.0035	0.0014	0.0002	0.003	0.68238	D	0.003	0.76473	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.055	0.86842	M	-3.32	0.93882	D	-4.37	0.77061	D	0.339	0.38027	0.997	0.97143	D	0.908	0.96936	D	10	0.017576963	0.00376	T	0.565682	0.96053	D	0.730	0.90545	.	.	0.95128258595	0.95076	0.5017662040250916	0.50098	0.935818021224	0.72008	0.743655860424	0.73510	T	0.596956	0.87026	D	-0.0790749	0.39866	T	0.115557	0.77939	D	0.0517575774758437	0.05805	T	0.913509	0.69206	D	0.31050313	0.53829	0.29547164	0.55579	0.31050313	0.53829	0.29547164	0.55578	-9.068	0.68134	D	.	.	0.114	0.22644	B	.	.	4.643768	0.73957	26.1	0.99910239545599777	0.97949	0.98833	0.87455	D	AEFDBI	0.821675	0.74218	D	0.843979606255816	0.88762	9.702135	0.780573391282847	0.88412	9.572106	0.999999997851169	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.645312	0.48771	0	0.542086	0.14980	0	.	.	5.6	5.6	0.84997	5.266000	0.65339	9.768000	0.81541	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.615000	0.31768	0.0:0.0:1.0:0.0	17.091	0.86497	443	0.79878	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	494.33	35	chr1	40301270	.	G	A	494.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.3;DP=673;ExcessHet=0;FS=1.177;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.23;ReadPosRankSum=1.15;SOR=0.412	GT:AD:DP:GQ:PL	0/1:22,22:44:99:508,0,500	18	0	1	0
chr1	43424830	43424830	A	G	exonic	SZT2	.	nonsynonymous SNV	SZT2:NM_001365999:exon17:c.A2518G:p.I840V,SZT2:NM_015284:exon17:c.A2518G:p.I840V	Epileptic encephalopathy, early infantile, 18, Autosomal recessive	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.754530208438	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1452463823	1.163e-05	1.163e-05	9.529e-06	1.375e-05	4.637e-05	7.08e-06	5.79e-06	1.583e-05	9.3e-06	0	0	0	0	0	0	1.169e-05	0	4.637e-05	1.314e-05	1.313e-05	2.57e-05	0	6.547e-05	2.18e-06	8.2e-07	.	.	0	0	6.547e-05	0	0	0	0	1.47e-05	0	0	0.043	0.41364	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	2.085	0.57729	M	.	.	.	-0.38	0.13418	N	0.485	0.51940	.	.	.	.	.	.	.	0.60678	0.67219	D	0.75453	0.98046	D	.	.	.	.	0.566883017009	0.56351	0.17852623105267468	0.17771	0.79122859426	0.65794	0.567661643028	0.48348	T	0.095183	0.39569	T	-0.0299204	0.47428	T	-0.265269	0.48296	T	.	.	.	0.911709	0.68653	D	0.10025507	0.23671	0.25373465	0.51026	0.10025507	0.23671	0.25373465	0.51025	-4.006	0.23893	T	0.5305219567103027	0.60145	0.154	0.34116	B	.;.	.;.	4.379258	0.67488	25.1	0.99785330587563015	0.87131	0.98902	0.88388	D	AEFDBI	0.744214	0.68727	D	.	.	.	.	.	.	0.999998432590816	0.74766	0.562547	0.31514	0	0.653731	0.59785	0	0.463624	0.06942	0	0.635551	0.53088	0	.	.	5.78	5.78	0.91418	6.024000	0.70506	11.185000	0.88454	0.754000	0.88378	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	16.106	0.81032	766	0.49742	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	536.33	35	chr1	43424830	.	A	G	536.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.055;DP=693;ExcessHet=0;FS=8.002;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.95;ReadPosRankSum=2.22;SOR=0.706	GT:AD:DP:GQ:PL	0/1:28,21:49:99:550,0,752	18	0	1	0
chr1	46260841	46260841	T	C	exonic	RAD54L	.	nonsynonymous SNV	RAD54L:NM_001370766:exon7:c.T52C:p.W18R,RAD54L:NM_003579:exon7:c.T592C:p.W198R,RAD54L:NM_001142548:exon8:c.T592C:p.W198R	Adenocarcinoma, colonic, somatic (3);Lymphoma, non-Hodgkin, somatic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.968	0.375436996352	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.004	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000004	0.62929	D	0.113722	1	0.81001	D	2.12	0.58754	M	-3.14	0.92884	D	-12.16	0.99666	D	0.932	0.93723	0.958	0.96512	D	0.876	0.95881	D	10	0.9514583	0.94484	D	0.375437	0.92847	D	0.968	0.99597	0.818	0.93195	0.994288837492	0.99422	0.9054711851707552	0.90520	0.791941562005	0.65833	0.928797125816	0.98918	D	0.813583	0.95807	D	0.492933	0.94082	D	0.470287	0.94005	D	0.999510884284973	0.97717	D	0.969603	0.89085	D	0.96993524	0.98254	0.9553255	0.98712	0.96993524	0.98254	0.9553255	0.98713	-12.701	0.88094	D	.	.	0.997	0.96728	P	.;.;.;.;.	.;.;.;.;.	5.138159	0.86009	28.8	0.99653338829813343	0.77442	0.99619	0.98049	D	AEFGBI	0.905479	0.85705	D	0.857296276787886	0.89519	10.00544	0.81838934131404	0.91042	10.68999	0.999999927300341	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.49	5.49	0.81022	8.017000	0.88732	7.855000	0.71153	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.909	0.79247	108	0.95573	SNF2-related, N-terminal domain|Helicase superfamily 1/2, ATP-binding domain|Helicase superfamily 1/2, ATP-binding domain;SNF2-related, N-terminal domain;SNF2-related, N-terminal domain|Helicase superfamily 1/2, ATP-binding domain|Helicase superfamily 1/2, ATP-binding domain;SNF2-related, N-terminal domain;SNF2-related, N-terminal 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	.	.	.	.	.	.	.	.	0.02632	1790.33	40	chr1	46260841	.	T	C	1790.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.984;DP=807;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.63;ReadPosRankSum=-0.577;SOR=0.668	GT:AD:DP:GQ:PL	0/1:81,73:154:99:1804,0,2075	18	0	1	0
chr1	50419106	50419106	G	0	exonic	DMRTA2	.	.	.	.	453	9	255	719	86	1779	0.98948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2105	11397.8	13	chr1	50419106	.	G	*	11397.8	.	AC=8;AF=0.211;AN=38;BaseQRankSum=1.18;DP=475;ExcessHet=0;FS=0;InbreedingCoeff=nan;MLEAC=8;MLEAF=0.211;MQ=59.95;MQRankSum=0;QD=28.28;ReadPosRankSum=0.367;SOR=0.869	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,9:18:99:1|0:50419101_CCGGCGG_C:775,272,346:50419101	11	0	8	0
chr1	52239068	52239068	T	G	exonic	ZFYVE9	.	nonsynonymous SNV	ZFYVE9:NM_004799:exon4:c.T1651G:p.C551G,ZFYVE9:NM_007324:exon4:c.T1651G:p.C551G	.	426	1095	1	0	0	1	0.000456413	.	.	.	2334350	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.180	0.00587361716654	0.0004	0.000399361	0.0004	0.0002	0.0007	0.0001	0	0.0005	0.0033	0	0.0003946	61	154602	rs145100186	0.0004	0.0004	0.0004	0.0004	0.0031	0.0004	0.0004	0.0020	0.0017	0.0006	0.0014	0.0005	0	0	0.0031	0.0004	0.0008	0	0.0006	0.0006	0.0006	0.0007	0.0026	0.0005	0.0005	0.0020	0.0017	0.0005	0	0.0026	0.0009	0.0002	0	0.0068	0.0004	0.0014	0	0.003	0.68238	D	0.563	0.12037	T	0.0	0.07471	B	0.0	0.08700	B	0.005230	0.32979	N	0.259961	0.815982	0.34707	D	1.04	0.26193	L	0.95	0.47477	T	-2.89	0.60665	D	0.552	0.68429	-1.0226	0.22866	T	0.088	0.34078	T	10	0.028939903	0.01023	T	0.005874	0.15281	T	0.180	0.45073	.	.	0.295226631146	0.29124	0.22499928597186308	0.22414	0.131608955516	0.14841	0.433586120605	0.29699	T	0.064005	0.32323	T	-0.352341	0.04581	T	-0.324442	0.42086	T	0.0291299666350597	0.01858	T	0.732227	0.34774	T	0.4153595	0.61781	0.41406152	0.65561	0.4153595	0.61782	0.41406152	0.65561	-2.249	0.04285	T	.	.	0.083	0.31658	B	.;.;.	.;.;.	2.602178	0.33775	19.44	0.89032396887040244	0.18455	0.68114	0.33680	D	AEFDGBCI	0.346475	0.44128	N	-0.364098601511496	0.26757	1.46276	-0.192747101630959	0.31802	1.803206	0.999999933993586	0.74766	0.706298	0.61202	0	0.681609	0.65952	0	0.709663	0.75317	0	0.654926	0.60358	0	.	.	5.93	2.1	0.26226	2.081000	0.41220	3.520000	0.38893	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.0667:0.2575:0.6757	7.963	0.29242	336	0.86165	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.010101	0.004076	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1442.33	35	chr1	52239068	.	T	G	1442.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.942;DP=728;ExcessHet=0;FS=3.952;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.51;ReadPosRankSum=0.321;SOR=0.738	GT:AD:DP:GQ:PL	0/1:38,55:93:99:1456,0,1042	18	0	1	0
chr1	53070090	53070090	G	A	exonic	PODN	.	nonsynonymous SNV	PODN:NM_153703:exon2:c.G235A:p.V79I,PODN:NM_001199081:exon3:c.G235A:p.V79I,PODN:NM_001199080:exon4:c.G235A:p.V79I	.	430	1082	10	0	0	10	0.00459982	.	.	.	3376745	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.102	0.00553005013747	0.0005	0.000199681	0.0007	0.0002	0.0007	0.0002	0	0.0008	0.0011	0.0014	0.000608	94	154602	rs148109485	0.0005	0.0005	0.0004	0.0006	0.0137	0.0005	0.0005	0.0113	0.0104	0.0007	0.0007	0.0003	7.557e-05	0	0.0137	0.0004	0.0011	0.0013	0.0006	0.0006	0.0006	0.0005	0.0015	0.0005	0.0004	0.0007	0.0005	0.0002	0	0.0007	0.0006	0	0	0.0136	0.0007	0.0033	0.0015	0.322	0.15098	T	0.361	0.16914	T	0.076	0.57405	B	0.034	0.49832	B	0.026865	0.25848	N	0.400351	0.999995	0.08975	N	.	.	.	1.83	0.24841	T	-0.24	0.15986	N	0.415	0.45520	-1.0569	0.12543	T	0.066	0.27121	T	10	0.025538683	0.00745	T	0.00553	0.14258	T	0.102	0.29158	.	.	0.485634191555	0.48196	0.1969852699231546	0.19615	0.32099405324	0.34297	0.502152323723	0.39128	T	.	.	.	-0.47732	0.00767	T	-0.493792	0.22995	T	0.0156461467272588	0.00359	T	0.524548	0.36895	T	.	.	.	.	.	.	.	.	-5.162	0.38553	T	.	.	0.078	0.10883	B	.;.;.;.	.;.;.;.	3.707610	0.52916	23.3	0.99475454707413036	0.66579	0.78815	0.38943	D	AEFDBI	0.219631	0.34449	N	-0.0604830393226829	0.39136	2.303039	-0.0129535281784235	0.39129	2.315393	0.998027658499321	0.36327	0.700653	0.57754	0	0.573888	0.26702	0	0.717052	0.78885	0	0.567892	0.33627	0	.	.	4.73	4.73	0.59485	3.087000	0.49865	11.792000	0.96402	0.618000	0.50648	0.720000	0.28821	1.000000	0.68203	0.984000	0.60418	0.0:0.0:1.0:0.0	13.049	0.58351	365	0.84644	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.014099	0.000000	0.013587	0.043860	0.000000	0.017241	0.006098	0.007576	0.02632	1078.33	37	chr1	53070090	.	G	A	1078.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.6;DP=824;ExcessHet=0;FS=1.625;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.68;ReadPosRankSum=1.94;SOR=0.951	GT:AD:DP:GQ:PL	0/1:55,46:101:99:1092,0,1336	18	0	1	0
chr1	54139645	54139645	-	GC	exonic	CDCP2	.	frameshift insertion	CDCP2:NM_201546:exon5:c.1224_1225insGC:p.M409Afs*2	.	548	301	299	84	290	757	0.436857	.	.	.	2812811	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	0.00259585	0.0055	0.0015	0.0036	0.0001	0	0.0091	0.0132	0.0016	0.0010373	27	26028	rs76608277	0.0037	0.0037	0.0037	0.0037	0.0127	0.0037	0.0036	0.0103	0.0095	0.0013	0.0030	0.0060	2.561e-05	0.0002	0.0127	0.0042	0.0041	0.0014	0.0052	0.0045	0.0058	0.0046	0.0083	0.0048	0.0047	0.0076	0.0073	0.0016	0.0559	0.0066	0.0113	0.0002	0.0004	0.0105	0.0083	0.0043	0.0025	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	22297.6	33	chr1	54139645	.	T	TGC	22297.6	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.389;DP=1538;ExcessHet=0.1862;FS=2.641;InbreedingCoeff=0.2549;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=18.85;ReadPosRankSum=0.049;SOR=0.875	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:0,63:108:99:.:.:3810,1285,1467:.	17	0	2	0
chr1	59904999	59904999	C	T	exonic	CYP2J2	.	nonsynonymous SNV	CYP2J2:NM_000775:exon7:c.G1063A:p.A355T	.	420	1045	55	2	0	59	0.0274546	.	.	.	2808929	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.102	0.015105775827	0.0011	0.000998403	0.0018	0.0006	0.0007	0	0.0002	0.0011	0.0055	0.0078	0.0015524	240	154602	rs144856672	0.0012	0.0012	0.0009	0.0014	0.0184	0.0011	0.0011	0.0155	0.0145	0.0007	0.0011	3.827e-05	7.56e-05	0	0.0184	0.0006	0.0017	0.0085	0.0010	0.0010	0.0009	0.0011	0.0085	0.0009	0.0008	0.0065	0.0057	0.0006	0	0.0012	0	0	0	0.0102	0.0008	0.0043	0.0085	0.024	0.47745	D	0.006	0.70582	D	0.002	0.09854	B	0.015	0.17295	B	0.395206	0.13200	N	0.748294	0.999761	0.20447	N	1.79	0.46772	L	-0.34	0.68474	T	0.11	0.05706	N	0.035	0.01004	-0.9203	0.45513	T	0.166	0.50356	T	10	0.0077751577	0.00177	T	0.015106	0.35650	T	0.102	0.29158	.	.	0.519783508757	0.51621	0.3072233096902115	0.30635	0.121399189347	0.13675	0.226801514626	0.01740	T	0.113322	0.43027	T	-0.579393	0.00194	T	-0.599907	0.12819	T	0.023003499802571	0.01024	T	0.765923	0.39354	T	0.063747086	0.13454	0.08463631	0.19484	0.063747086	0.13453	0.08463631	0.19483	-4.378	0.29257	T	.	.	0.078	0.06990	B	.	.	0.592324	0.09609	6.382	0.99512910124413778	0.68739	0.25292	0.22655	N	AEFI	0.434115	0.49529	N	-0.680728933999535	0.16572	0.8454822	-0.632723241483656	0.18655	0.9974999	0.00716124955779844	0.11400	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.95	2.94	0.33188	0.084000	0.14738	-9.174000	0.00857	0.599000	0.40250	0.001000	0.13787	0.000000	0.08366	0.336000	0.25340	0.1638:0.6205:0.1376:0.0781	5.067	0.13926	912	0.21483	.	.	.	.	.	.	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	0.009567	0.000000	0.009511	0.017544	0.000000	0.025862	0.003049	0.011364	0.07895	4415.79	35	chr1	59904999	.	C	T	4415.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.317;DP=946;ExcessHet=0.3672;FS=1.227;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=11.56;ReadPosRankSum=-0.86;SOR=0.767	GT:AD:DP:GQ:PL	0/1:50,74:124:99:1823,0,1063	16	0	3	0
chr1	70036163	70036163	C	G	exonic	LRRC7	.	nonsynonymous SNV	LRRC7:NM_001350216:exon19:c.C2041G:p.L681V,LRRC7:NM_001366838:exon19:c.C2038G:p.L680V,LRRC7:NM_001370785:exon19:c.C2038G:p.L680V,LRRC7:NM_001330635:exon20:c.C1939G:p.L647V,LRRC7:NM_001366839:exon20:c.C1939G:p.L647V,LRRC7:NM_001366841:exon20:c.C1939G:p.L647V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.206	0.00710322179758	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.029	0.54541	D	0.451	0.36091	B	0.137	0.33328	B	0.000002	0.62929	D	0.061982	0.989178	0.81001	D	1.735	0.44892	L	0.8	0.48769	T	-0.79	0.21860	N	0.42	0.65844	-1.0735	0.08660	T	0.063	0.26314	T	10	0.18022761	0.33196	T	0.007103	0.18814	T	0.206	0.49396	0.152	0.05544	0.356364620521	0.35248	0.25152872942128907	0.25066	0.839902955918	0.67995	0.576245367527	0.49557	T	0.025186	0.52354	T	0.0360236	0.56521	T	-0.186031	0.55961	T	0.864413559436798	0.51459	D	0.892111	0.62800	D	0.25607583	0.48646	0.29256755	0.55284	0.25607583	0.48646	0.29256755	0.55283	-3.422	0.15354	T	.	.	0.282	0.51463	B	.;.	.;.	3.886886	0.56525	23.7	0.9966674996809376	0.78330	0.97732	0.76733	D	AEFBI	0.726205	0.67494	D	0.238167097406804	0.53058	3.476353	0.419172458178913	0.62760	4.496942	0.98808360991299	0.31414	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	6.06	6.06	0.98340	4.344000	0.59134	7.721000	0.67307	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	19.628	0.95682	883	0.28872	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	166.33	40	chr1	70036163	.	C	G	166.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.431;DP=709;ExcessHet=0;FS=62.17;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=2.6;ReadPosRankSum=-0.441;SOR=5.992	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:45,19:64:99:0|1:70036162_A_G:180,0,1024:70036162	18	0	1	0
chr1	89198826	89198826	C	G	exonic	GBP4	.	nonsynonymous SNV	GBP4:NM_052941:exon1:c.G9C:p.E3D	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.00330137405359	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.084	0.24799	B	0.007	0.12992	B	.	.	.	.	1	0.08975	N	0	0.06538	N	0.39	0.57419	T	-0.19	0.09965	N	0.078	0.05287	-1.0044	0.28636	T	0.018	0.07376	T	9	0.05954331	0.07173	T	0.003301	0.07329	T	0.025	0.05312	0.112	0.02175	0.355450299083	0.35149	0.1837197839060289	0.18290	0.103197518649	0.11672	0.456330567598	0.32808	T	0.001698	0.01120	T	-0.184464	0.23074	T	-0.502746	0.22063	T	0.0745830017198029	0.09279	T	0.30087	0.05647	T	0.086132124	0.20009	0.075093925	0.16496	0.086132124	0.20009	0.075093925	0.16495	-3.13	0.11644	T	.	.	0.085	0.10062	B	.	.	0.617814	0.09862	6.624	0.97719516962708197	0.35549	0.01399	0.04744	N	AEFDGBHCI	0.032976	0.03827	N	-1.39406115285017	0.02693	0.1192856	-1.48135820799914	0.02497	0.1149507	0.999999997997675	0.74766	0.487112	0.14033	0	0.52208	0.09955	0	0.573888	0.23631	0	0.618803	0.45993	0	.	.	2.03	-2.93	0.05261	0.574000	0.23416	0.285000	0.16810	-0.282000	0.06404	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.0:0.3047:0.4057:0.2896	3.758	0.08118	461	0.78683	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1718.33	33	chr1	89198826	.	C	G	1718.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.207;DP=755;ExcessHet=0;FS=2.387;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.44;ReadPosRankSum=1.1;SOR=0.956	GT:AD:DP:GQ:PL	0/1:53,66:119:99:1732,0,1279	18	0	1	0
chr1	99884396	99884396	T	C	exonic	AGL	.	nonsynonymous SNV	AGL:NM_000028:exon19:c.T2491C:p.Y831H,AGL:NM_000642:exon19:c.T2491C:p.Y831H,AGL:NM_000643:exon19:c.T2491C:p.Y831H,AGL:NM_000644:exon19:c.T2491C:p.Y831H,AGL:NM_000646:exon19:c.T2443C:p.Y815H	Glycogen storage disease IIIa, Autosomal recessive;Glycogen storage disease IIIb, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	1488844	Glycogen_storage_disease_type_III	MONDO:MONDO:0009291,MedGen:C0017922,OMIM:232400,Orphanet:366	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.081	0.00911862377621	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.401e-06	7.43e-05	1.397e-06	1.405e-06	1.848e-06	2.3e-07	9e-08	3.1e-07	1.2e-07	0	0	0	0	0	0	1.848e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.39097	T	0.473	0.12142	T	0.517	0.50474	P	0.109	0.47728	B	0.002293	0.36846	N	0.305907	0.99907	0.46009	D	2.045	0.56016	M	1.57	0.29342	T	-0.65	0.18877	N	0.272	0.33250	-1.1132	0.02809	T	0.049	0.20711	T	10	0.27782464	0.45351	T	0.009119	0.23988	T	0.081	0.23632	0.336	0.32491	0.479744053436	0.47606	0.606268470227836	0.60557	0.11555191635	0.13036	0.707347929478	0.68209	T	0.099441	0.40426	T	-0.125642	0.32204	T	-0.418252	0.31276	T	0.677078485488892	0.39656	D	0.937306	0.76420	D	0.20774648	0.42990	0.14135508	0.33665	0.20774648	0.42990	0.14135508	0.33664	-6.617	0.51183	T	0.20745740101029875	0.27728	0.195	0.49038	B	.;.;.;.;.	.;.;.;.;.	3.365396	0.46485	22.3	0.99621718597315734	0.75473	0.99680	0.98609	D	AEBI	0.860591	0.77848	D	0.379094507883598	0.60291	4.216405	0.481746564574198	0.66782	4.996979	0.999723963512748	0.42220	0.651	0.46895	0	0.708844	0.79440	0	0.65145	0.50148	0	0.683762	0.67416	0	.	.	5.8	5.8	0.92081	7.619000	0.82253	7.878000	0.72341	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.0:1.0	16.134	0.81276	855	0.34697	Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central 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	.	.	.	.	.	.	.	.	0.3947	4455.13	82	chr1	99884396	.	T	C	4455.13	.	AC=15;AF=0.395;AN=38;BaseQRankSum=-4.146;DP=2242;ExcessHet=20.8569;FS=143.104;InbreedingCoeff=-0.6543;MLEAC=15;MLEAF=0.395;MQ=60;MQRankSum=0;QD=2.39;ReadPosRankSum=1.3;SOR=12.047	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:102,28:130:99:0|1:99884396_T_C:507,0,3710:99884396	4	0	15	0
chr1	99884400	99884400	T	C	exonic	AGL	.	nonsynonymous SNV	AGL:NM_000028:exon19:c.T2495C:p.I832T,AGL:NM_000642:exon19:c.T2495C:p.I832T,AGL:NM_000643:exon19:c.T2495C:p.I832T,AGL:NM_000644:exon19:c.T2495C:p.I832T,AGL:NM_000646:exon19:c.T2447C:p.I816T	Glycogen storage disease IIIa, Autosomal recessive;Glycogen storage disease IIIb, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.153	0.0122640309764	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.38e-06	6.716e-05	1.374e-06	1.386e-06	9.081e-07	2.3e-07	9e-08	.	.	0	0	0	0	0	0	9.081e-07	1.668e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.27426	T	0.026	0.56640	D	0.0	0.21573	B	0.001	0.24526	B	0.000055	0.53742	D	0.164392	0.996604	0.43303	D	0.75	0.19020	N	1.65	0.27650	T	-0.36	0.13035	N	0.436	0.50327	-1.0535	0.13440	T	0.016	0.06711	T	10	0.188252	0.34372	T	0.012264	0.30673	T	0.153	0.40148	0.481	0.56142	0.347438807231	0.34349	0.6957915828848406	0.69520	0.0479730424621	0.05229	0.57926928997	0.49983	T	0.024605	0.18561	T	-0.114689	0.33995	T	-0.402519	0.33091	T	0.689807772636414	0.40239	D	0.921208	0.71446	D	0.15030582	0.34224	0.15235546	0.35850	0.15030582	0.34224	0.15235546	0.35849	-7.468	0.57385	T	0.12742211284755814	0.13043	0.196	0.46493	B	.;.;.;.;.	.;.;.;.;.	3.585879	0.50577	23.0	0.98956683015017666	0.49246	0.98949	0.89045	D	AEFBI	0.617707	0.60379	D	-0.259290584713923	0.30734	1.716485	0.0117534508968653	0.40260	2.399848	0.999723963512748	0.42220	0.651	0.46895	0	0.708844	0.79440	0	0.670488	0.60580	0	0.683762	0.67416	0	.	.	5.8	5.8	0.92081	5.882000	0.69458	7.878000	0.72341	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.0:1.0	16.134	0.81276	855	0.34697	Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central 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	.	.	.	.	.	.	.	.	0.2105	2128.93	50	chr1	99884400	.	T	C	2128.93	.	AC=8;AF=0.211;AN=38;BaseQRankSum=-3.929;DP=2013;ExcessHet=4.0268;FS=140.901;InbreedingCoeff=-0.2737;MLEAC=8;MLEAF=0.211;MQ=60;MQRankSum=0;QD=2.14;ReadPosRankSum=1.54;SOR=11.374	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:100,28:128:99:0|1:99884396_T_C:513,0,3694:99884396	11	0	8	0
chr1	108752279	108752279	T	A	exonic	STXBP3	.	nonsynonymous SNV	STXBP3:NM_007269:exon2:c.T72A:p.D24E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.272	0.0438343300406	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.428	0.09600	T	0.839	0.03621	T	0.067	0.23653	B	0.008	0.13708	B	0.000096	0.51296	D	0.169543	0.998886	0.45620	D	1.39	0.34934	L	-1.33	0.79854	T	0.58	0.02598	N	0.428	0.46742	-0.6066	0.64544	T	0.275	0.64639	T	10	0.24300942	0.41507	T	0.043834	0.61186	D	0.272	0.58758	0.318	0.29581	0.878934931939	0.87775	0.4134715364973864	0.41263	0.00269479814514	0.00229	0.634083628654	0.57724	T	0.054906	0.29856	T	0.0518197	0.58577	T	-0.163341	0.58049	T	0.632445812225342	0.37720	D	0.726327	0.34071	T	0.07469636	0.16780	0.0787243	0.17660	0.07469636	0.16780	0.0787243	0.17659	-2.851	0.08663	T	.	.	0.112	0.21877	B	.	.	2.473662	0.31887	18.88	0.98453039525226149	0.41643	0.94468	0.61262	D	AEFGBI	0.562732	0.57021	D	0.0516589626108055	0.44219	2.69996	0.223153259215818	0.51136	3.298689	0.999920014654424	0.46280	0.732398	0.92422	0	0.709663	0.81188	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.51	5.51	0.81769	3.762000	0.54962	2.349000	0.32302	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	14.897	0.70291	845	0.36510	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	546.33	34	chr1	108752279	.	T	A	546.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.33;DP=677;ExcessHet=0;FS=1.038;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.12;ReadPosRankSum=1.04;SOR=0.874	GT:AD:DP:GQ:PL	0/1:32,22:54:99:560,0,760	18	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	.	.	.	.	.	.	.	.	0.2941	1618.97	110	chr1	109508616	.	G	C	1618.97	.	AC=10;AF=0.294;AN=34;BaseQRankSum=-3.579;DP=1667;ExcessHet=6.9875;FS=173.456;InbreedingCoeff=-0.4061;MLEAC=11;MLEAF=0.324;MQ=60;MQRankSum=0;QD=1.56;ReadPosRankSum=1.36;SOR=9.781	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:65,18:83:99:0|1:109508616_G_C:361,0,1950:109508616	7	0	10	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	.	.	.	.	.	.	.	.	0.08333	70.16	37	chr1	109508617	.	T	C	70.16	.	AC=3;AF=0.083;AN=36;BaseQRankSum=-2.504;DP=1221;ExcessHet=0.3672;FS=66.503;InbreedingCoeff=-0.087;MLEAC=2;MLEAF=0.056;MQ=60;MQRankSum=0;QD=0.25;ReadPosRankSum=1.16;SOR=8.051	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:72,10:82:2:0|1:109508616_G_C:2,0,2840:109508616	15	0	3	1
chr1	109508618	109508618	T	C	exonic	AMIGO1	.	nonsynonymous SNV	AMIGO1:NM_020703:exon2:c.A295G:p.N99D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	0.00431994233541	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.43e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.47745	D	0.098	0.39040	T	0.046	0.21875	B	0.204	0.37039	B	0.023848	0.26367	N	0.283710	0.837229	0.28680	N	-0.135	0.04517	N	4.32	0.02387	T	-0.65	0.18877	N	0.264	0.35301	-0.9012	0.47868	T	0.003	0.00832	T	10	0.09139174	0.16007	T	0.00432	0.10498	T	0.050	0.13987	0.302	0.27003	0.35421846163	0.35036	0.42623265837729346	0.42540	1.16636633486	0.79636	0.593713998795	0.52018	T	0.016495	0.13623	T	-0.33	0.06112	T	-0.711798	0.05203	T	0.54811829328537	0.34407	D	0.660634	0.26999	T	0.10292237	0.24323	0.1119965	0.27018	0.10292237	0.24322	0.1119965	0.27018	-2.193	0.04007	T	.	.	0.145	0.32079	B	.;.	.;.	1.909142	0.24245	16.33	0.98833880806686136	0.47002	0.33936	0.24948	N	AEFBCI	0.215332	0.34070	N	-0.58773012198282	0.19317	1.009999	-0.480569429772215	0.22688	1.233631	0.896117992834435	0.25970	0.676563	0.55306	0	0.610034	0.51514	0	0.673471	0.61138	0	0.579976	0.35079	0	.	.	4.99	2.58	0.30011	-0.458000	0.06813	0.851000	0.22138	0.665000	0.62972	0.000000	0.06391	1.000000	0.68203	1.000000	0.97212	0.1294:0.0:0.2917:0.5789	6.884	0.23373	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	.	.	.	.	.	.	.	.	0.07895	424.07	37	chr1	109508618	.	T	C	424.07	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-3.132;DP=1219;ExcessHet=0.3672;FS=176.537;InbreedingCoeff=-0.0834;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=1.52;ReadPosRankSum=1.2;SOR=7.657	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:65,18:83:99:0|1:109508616_G_C:361,0,1950:109508616	16	0	3	0
chr1	110222977	110222977	C	G	exonic	KCNC4	.	nonsynonymous SNV	KCNC4:NM_001039574:exon2:c.C692G:p.A231G,KCNC4:NM_001377330:exon2:c.C692G:p.A231G,KCNC4:NM_004978:exon2:c.C692G:p.A231G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.456	0.0722916072849	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0034	0.0008	0.0006	0.0008	0.0007	0.0006	0.0008	0.0008	0.0008	0	0.0003	0.0002	1.877e-05	0.0002	0.0008	0.0008	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.35918	T	0.315	0.21144	T	0.051	0.42493	B	0.157	0.41053	B	0.000921	0.41028	D	0.275191	0.99437	0.42258	D	2.415	0.69758	M	-4.19	0.96908	D	-2.8	0.59226	D	0.438	0.47672	0.589	0.91750	D	0.723	0.90514	D	10	0.35339242	0.52146	T	0.072292	0.71493	D	0.456	0.75483	0.363	0.36874	0.993177892102	0.99310	0.7526387987383419	0.75210	1.08132311467	0.77145	0.672360956669	0.63174	T	0.667086	0.90076	D	0.175355	0.71615	D	0.0141088	0.71248	D	0.842766284942627	0.49555	D	0.923008	0.74652	D	0.2548791	0.48519	0.22605044	0.47570	0.2548791	0.48519	0.22605044	0.47569	-8.263	0.63102	D	.	.	0.237	0.47944	B	.;.;.	.;.;.	3.598856	0.50823	23.0	0.99047415397653182	0.51162	0.96210	0.68040	D	AEFDGBI	0.477094	0.52023	N	0.0886515093145786	0.45935	2.841749	0.218624017239798	0.50879	3.275622	0.993656479131254	0.33302	0.651	0.46895	0	0.588066	0.40923	0	0.723109	0.80598	0	0.683762	0.67416	0	.	.	4.88	4.88	0.63131	2.965000	0.48892	7.666000	0.64515	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.9187:0.0:0.0813	11.857	0.51719	702	0.57624	Ion transport domain;Ion transport domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2941	2216.57	41	chr1	110222977	.	C	G	2216.57	.	AC=10;AF=0.294;AN=34;BaseQRankSum=-2.991;DP=2097;ExcessHet=6.9875;FS=75.345;InbreedingCoeff=-0.4467;MLEAC=11;MLEAF=0.324;MQ=60;MQRankSum=0;QD=1.71;ReadPosRankSum=1.23;SOR=10.846	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:108,32:140:99:0|1:110222977_C_G:323,0,3588:110222977	7	0	10	2
chr1	110222980	110222980	C	G	exonic	KCNC4	.	nonsynonymous SNV	KCNC4:NM_001039574:exon2:c.C695G:p.S232C,KCNC4:NM_001377330:exon2:c.C695G:p.S232C,KCNC4:NM_004978:exon2:c.C695G:p.S232C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.929	0.40933610176	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.636e-05	0.0009	7.295e-05	5.971e-05	8.013e-05	5.553e-05	5.161e-05	6.603e-05	6.157e-05	3.015e-05	0	0	2.525e-05	0	0	8.013e-05	6.68e-05	2.327e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.992	0.90584	D	0.945	0.73362	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.905	0.96153	H	-4.48	0.97606	D	-4.53	0.78388	D	0.831	0.82660	1.099	0.99607	D	0.949	0.98331	D	10	0.8837731	0.87697	D	0.409336	0.93564	D	0.929	0.98304	0.653	0.79068	0.998239969463	0.99822	0.9428938060723817	0.94271	2.16590570783	0.95413	0.900061309338	0.96447	D	0.865354	0.97046	D	0.507574	0.94527	D	0.491319	0.94446	D	0.996615469455719	0.89714	D	0.968103	0.88413	D	0.81521255	0.84899	0.67973554	0.81184	0.81521255	0.84900	0.67973554	0.81185	-14.23	0.93792	D	.	.	0.990	0.93569	P	.;.;.	.;.;.	5.345809	0.89688	31	0.99023122748486747	0.50634	0.99055	0.90567	D	AEFDGBI	0.873031	0.79518	D	0.820546623686913	0.87372	9.195578	0.766985295263051	0.87421	9.215925	0.999999999988739	0.74766	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	4.88	4.88	0.63131	7.905000	0.86479	7.666000	0.64515	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	18.385	0.90408	702	0.57624	Ion transport domain;Ion transport domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2895	2139.97	41	chr1	110222980	.	C	G	2139.97	.	AC=11;AF=0.289;AN=38;BaseQRankSum=-4.477;DP=2106;ExcessHet=8.9063;FS=71.671;InbreedingCoeff=-0.4138;MLEAC=11;MLEAF=0.289;MQ=60;MQRankSum=0;QD=1.5;ReadPosRankSum=1.45;SOR=10.765	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:110,32:142:99:0|1:110222977_C_G:317,0,3618:110222977	8	0	11	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	.	.	.	.	.	.	.	.	0.3684	2088.26	101	chr1	112913901	.	C	G	2088.26	.	AC=14;AF=0.368;AN=38;BaseQRankSum=-3.359;DP=1774;ExcessHet=17.0548;FS=69.726;InbreedingCoeff=-0.5826;MLEAC=14;MLEAF=0.368;MQ=60;MQRankSum=0;QD=1.57;ReadPosRankSum=1.26;SOR=10.398	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:80,27:111:99:.:.:433,0,1591:.	5	0	14	0
chr1	113837829	113837829	C	G	exonic	PTPN22	.	nonsynonymous SNV	PTPN22:NM_012411:exon11:c.G1406C:p.G469A,PTPN22:NM_001308297:exon12:c.G1499C:p.G500A,PTPN22:NM_001193431:exon13:c.G1571C:p.G524A,PTPN22:NM_015967:exon13:c.G1571C:p.G524A	.	417	1100	5	0	0	5	0.00226757	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.0141335806231	.	0.00179712	0.0012	0	8.637e-05	0	0	0	0.0022	0.0088	0.001022	158	154602	rs556833484	0.0006	0.0006	0.0003	0.0009	0.0094	0.0005	0.0005	0.0089	0.0087	0	4.472e-05	0	0	0	0.0002	2.698e-06	0.0004	0.0094	0.0004	0.0004	0.0002	0.0005	0.0112	0.0003	0.0003	0.0088	0.0080	0	0	6.539e-05	0	0	0	0	0	0	0.0112	0.184	0.29288	T	0.585	0.15650	T	0.059	0.23051	B	0.021	0.19346	B	0.536190	0.05286	N	1.213900	1	0.08975	N	.	.	.	0.03	0.62183	T	-0.48	0.20576	N	0.134	0.17002	-1.0254	0.21952	T	0.062	0.25958	T	10	0.0039672256	0.00076	T	0.014134	0.34038	T	0.044	0.11924	0.223	0.14665	0.480497669815	0.47680	0.09743939181823733	0.09674	0.0807298937023	0.09083	0.190764069557	0.00239	T	0.016171	0.13421	T	-0.549282	0.00294	T	-0.555385	0.16812	T	0.0136886278171624	0.00256	T	0.813219	0.46599	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.12181	B	.;.;.;.;.	.;.;.;.;.	-0.554296	0.01701	0.124	0.4309239754206633	0.03221	0.09362	0.15133	N	AEFBI	0.127551	0.24496	N	-1.29661861324725	0.03716	0.1665005	-1.28893593539482	0.04579	0.2163231	0.00709687025122494	0.11383	0.706548	0.73137	0	0.724815	0.89359	0	0.573888	0.23631	0	0.668105	0.65232	0	.	.	5.96	0.699	0.17252	0.050000	0.14004	-1.272000	0.05850	-0.172000	0.11096	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.4909:0.0:0.5091	9.758	0.39684	656	0.62345	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.011364	0.02632	1337.33	34	chr1	113837829	.	C	G	1337.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.3;DP=761;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.73;ReadPosRankSum=-0.494;SOR=0.637	GT:AD:DP:GQ:PL	0/1:64,50:114:99:1351,0,1737	18	0	1	0
chr1	113900209	113900209	T	G	exonic	AP4B1	.	nonsynonymous SNV	AP4B1:NM_001308312:exon2:c.A305C:p.Q102P,AP4B1:NM_001253852:exon5:c.A809C:p.Q270P,AP4B1:NM_001253853:exon6:c.A512C:p.Q171P,AP4B1:NM_006594:exon6:c.A809C:p.Q270P	Spastic paraplegia 47, autosomal recessive, Autosomal recessive	0	1517	5	0	0	5	0.00164528	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.420	0.0388368025689	.	0.000998403	0.0002	0	8.637e-05	0	0	0	0.0011	0.0013	0.0001876	29	154602	rs528997061	7.947e-05	7.935e-05	3.679e-05	0.0001	0.0013	6.744e-05	6.276e-05	0.0011	0.0010	0	0	0	0	0	0.0002	0	0.0001	0.0013	0.0001	0.0001	5.14e-05	0.0002	0.0033	6.507e-05	5.319e-05	0.0021	0.0017	0	0	0	0	0	0	0	0	0	0.0033	0.008	0.58626	D	0.157	0.35840	T	0.997	0.77913	D	0.979	0.74454	D	0.000086	0.51296	D	0.181162	0.999952	0.52396	D	2.22	0.62911	M	-0.23	0.66652	T	-3.29	0.66549	D	0.693	0.74371	-0.3587	0.73301	T	0.366	0.72628	T	10	0.07646686	0.11949	T	0.038837	0.58459	D	0.420	0.72930	0.764	0.89213	0.880942240655	0.87977	0.8123140480002626	0.81187	0.605044700415	0.55414	0.573102355003	0.49116	T	0.27378	0.68895	T	-0.240805	0.15246	T	-0.154055	0.58883	T	0.266569974956582	0.23600	T	0.918808	0.70803	D	0.5282929	0.68733	0.5613961	0.74622	0.5282929	0.68734	0.5613961	0.74622	-12.675	0.87980	D	.	.	0.546	0.74342	A	.;.;.;.;.	.;.;.;.;.	3.229066	0.44031	21.9	0.9888631601548854	0.47912	0.98359	0.81978	D	AEFBI	0.777311	0.71016	D	0.494381779979038	0.66761	4.992086	0.433202286066479	0.63647	4.602475	0.999999767527275	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.09	5.09	0.68647	4.839000	0.62502	7.836000	0.70319	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.622000	0.31948	0.0:0.0:0.0:1.0	15.165	0.72500	574	0.70151	Clathrin/coatomer adaptor, adaptin-like, N-terminal;Clathrin/coatomer adaptor, adaptin-like, N-terminal;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	.	.	.	.	.	.	.	.	0.02632	2139.33	33	chr1	113900209	.	T	G	2139.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.959;DP=794;ExcessHet=0;FS=0.558;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.37;ReadPosRankSum=0.523;SOR=0.756	GT:AD:DP:GQ:PL	0/1:84,89:173:99:2153,0,2082	18	0	1	0
chr1	114686902	114686902	C	T	exonic	AMPD1	.	nonsynonymous SNV	AMPD1:NM_001172626:exon3:c.G311A:p.R104H,AMPD1:NM_000036:exon4:c.G224A:p.R75H	Myopathy due to myoadenylate deaminase deficiency, Autosomal recessive	1	1450	69	2	0	73	0.0245543	.	.	.	177319	Muscle_AMP_deaminase_deficiency|not_provided|AMPD1-related_disorder|not_specified	MONDO:MONDO:0014220,MedGen:C3714933,OMIM:615511,Orphanet:45|MedGen:C3661900|.|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.093	.	0.0029	0.00479233	0.0051	0.0016	0.0036	0.0003	0.0005	0.0051	0.0132	0.0121	0.00478	739	154602	rs61738827	0.0038	0.0038	0.0034	0.0042	0.0165	0.0037	0.0037	0.0138	0.0128	0.0010	0.0032	0.0231	0.0001	0.0005	0.0165	0.0030	0.0054	0.0121	0.0036	0.0036	0.0034	0.0037	0.0145	0.0033	0.0032	0.0118	0.0108	0.0010	0.0011	0.0043	0.0239	0	0.0002	0.0136	0.0038	0.0095	0.0145	0.028	0.47320	D	0.109	0.37872	T	.	.	.	.	.	.	0.002416	0.00885	U	11.368800	0.987684	0.40632	D	2.045	0.56016	M	0.97	0.42502	T	-0.15	0.09796	N	0.289	0.32921	-0.9990	0.30199	T	0.109	0.39509	T	10	0.0043738484	0.00089	T	.	.	.	0.093	0.26882	.	.	0.71889551114	0.71642	0.3105258791752021	0.30965	0.105181179434	0.11892	0.356991648674	0.18946	T	0.368652	0.73350	T	-0.485421	0.00689	T	-0.459019	0.26707	T	0.0192262107775266	0.00628	T	0.70223	0.31206	T	0.08808499	0.20535	0.06575114	0.13373	0.099119626	0.23387	0.07012084	0.14860	-4.017	0.24072	T	.	.	0.099	0.21428	B	.;.	.;.	2.835667	0.37399	20.5	0.99748629097363373	0.84077	0.92457	0.55756	D	AEFBI	0.120830	0.23519	N	0.219453574693732	0.52143	3.390361	0.254924878545914	0.52931	3.464669	0.0102450568174137	0.11992	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.41	4.5	0.54382	2.272000	0.43032	1.774000	0.28659	0.599000	0.40250	0.972000	0.34453	0.999000	0.35428	0.997000	0.79791	0.0:0.9199:0.0:0.0801	12.292	0.54142	825	0.40060	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.016113	0.000000	0.008152	0.020468	0.100000	0.008621	0.048780	0.007576	0.05263	2064.83	34	chr1	114686902	.	C	T	2064.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=4.07;DP=749;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.5;ReadPosRankSum=1.12;SOR=0.751	GT:AD:DP:GQ:PL	0/1:41,39:80:99:998,0,938	17	0	2	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	.	.	.	.	.	.	.	.	0.4211	6987.05	189	chr1	114732648	.	C	G	6987.05	.	AC=16;AF=0.421;AN=38;BaseQRankSum=-2.206;DP=2914;ExcessHet=25.4433;FS=278.375;InbreedingCoeff=-0.7273;MLEAC=16;MLEAF=0.421;MQ=60;MQRankSum=0;QD=3.01;ReadPosRankSum=1.01;SOR=12.498	GT:AD:DP:GQ:PL	0/1:90,56:153:99:461,0,1223	3	0	16	0
chr1	146987977	146987977	T	C	exonic	NBPF12	.	nonsynonymous SNV	NBPF12:NM_001278141:exon29:c.T3140C:p.V1047A	.	585	925	12	0	0	12	0.00644468	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.000292727078143	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs201670582	0.0006	0.0047	0.0005	0.0007	0.0016	0.0005	0.0005	0.0012	0.0011	0.0007	0.0016	0.0008	0.0001	0.0017	0	0.0004	0.0007	0.0008	3.414e-05	0.0002	3.99e-05	2.806e-05	0.0002	1.298e-05	8.25e-06	8.44e-06	3.16e-06	5.094e-05	0	6.872e-05	0	0.0002	9.944e-05	0	0	0	0	.	.	.	1.0	0.33442	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.041	0.02759	-0.9272	0.44545	T	0.002	0.00707	T	5	0.03807187	0.02202	T	2.93E-4	0.00021	T	.	.	.	.	0.0297737177859	0.01360	0.005606807826563626	0.00530	.	.	.	.	.	0.012892	0.11252	T	-0.3762	0.03292	T	-0.778161	0.02510	T	0.102979525331736	0.12682	T	0.430157	0.21304	T	0.037774272	0.04907	0.100568555	0.24050	0.037774272	0.04906	0.100568555	0.24050	-9.292	0.69557	D	.	.	0.105	0.30502	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	-0.755983	0.01197	0.059	0.15084805958000494	0.00356	0.00021	0.00226	N	AEFI	0.020281	0.00785	N	-1.83444603345663	0.00466	0.02006262	-2.06996451119044	0.00217	0.009541837	6.10642097802735E-4	0.07437	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.572	-1.14	0.09241	-1.771000	0.01887	-20.000000	0.00162	-0.536000	0.04945	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	778	0.48011	Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1538	187.94	13	chr1	146987977	.	T	C	187.94	.	AC=4;AF=0.154;AN=26;BaseQRankSum=2.87;DP=400;ExcessHet=0.0101;FS=0;InbreedingCoeff=0.0907;MLEAC=4;MLEAF=0.154;MQ=34.78;MQRankSum=0.157;QD=4.95;ReadPosRankSum=-0.534;SOR=0.765	GT:AD:DP:GQ:PL	1/1:0,3:3:9:101,9,0	10	1	2	6
chr1	148483198	148483198	G	A	exonic	PPIAL4G	.	nonsynonymous SNV	PPIAL4G:NM_001123068:exon1:c.C55T:p.R19C	.	.	.	.	.	.	.	.	.	.	.	4045885	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.100	0.00623995150813	.	.	5.803e-05	0.0001	0	0.0002	0	3.006e-05	0	0.0001	4.53e-05	7	154602	rs1196181037	1.505e-05	1.505e-05	1.77e-05	1.238e-05	0.0002	9.85e-06	8.42e-06	2.375e-05	1.258e-05	8.963e-05	0	0	5.038e-05	0	0.0002	9.893e-06	4.969e-05	2.319e-05	1.972e-05	1.97e-05	3.855e-05	0	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	0.217	0.19157	T	0.241	0.24334	T	.	.	.	.	.	.	0.012149	0.29273	N	0.299102	0.699804	0.30114	N	.	.	.	0.69	0.51714	T	-0.72	0.20358	N	0.1	0.08227	-0.9399	0.42632	T	0.049	0.21026	T	7	0.046397835	0.03825	T	7.0E-4	0.00435	T	.	.	.	.	0.043077524339	0.03247	0.5705028628190415	0.56978	.	.	0.43451628089	0.29827	T	0.096617	0.39860	T	-0.190752	0.22147	T	-0.511778	0.21132	T	0.183053249369585	0.19426	T	0.753225	0.37546	T	0.06760562	0.14655	0.032571033	0.02014	0.06760562	0.14655	0.032571033	0.02013	-7.838	0.59961	D	.	.	0.095	0.15070	B	.	.	0.563607	0.09324	6.103	0.63067296421800378	0.07126	0.01069	0.03960	N	AEFI	0.031663	0.03431	N	-1.60101299812839	0.01259	0.05479965	-1.84118329618464	0.00636	0.02826561	4.46861746223973E-4	0.07004	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.109	-0.218	0.12495	0.351000	0.19834	-2.924000	0.03225	-0.863000	0.02614	0.001000	0.13787	0.000000	0.08366	0.002000	0.04165	0.2898:0.0:0.7102:0.0	6.296	0.20295	.	.	Cyclophilin-type peptidyl-prolyl cis-trans isomerase domain|Cyclophilin-type peptidyl-prolyl cis-trans isomerase 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	.	.	.	.	.	.	.	.	0.02632	1871.33	35	chr1	148483198	.	G	A	1871.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.59;DP=821;ExcessHet=0;FS=2.001;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=54.78;MQRankSum=-0.702;QD=11.92;ReadPosRankSum=0.076;SOR=0.873	GT:AD:DP:GQ:PL	0/1:85,72:157:99:1885,0,2081	18	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	.	.	.	.	.	.	.	.	0.2895	20288.3	149	chr1	149075685	.	C	A	20288.3	.	AC=11;AF=0.289;AN=38;BaseQRankSum=2.68;DP=7243;ExcessHet=8.9063;FS=9.436;InbreedingCoeff=-0.4084;MLEAC=11;MLEAF=0.289;MQ=47.06;MQRankSum=-6.736;QD=3.71;ReadPosRankSum=-1.169;SOR=1.49	GT:AD:DP:GQ:PL	0/1:306,184:490:99:4107,0,9514	8	0	11	0
chr1	150508228	150508228	G	C	exonic	ECM1	.	nonsynonymous SNV	ECM1:NM_001202858:exon1:c.G19C:p.A7P,ECM1:NM_004425:exon1:c.G19C:p.A7P,ECM1:NM_022664:exon1:c.G19C:p.A7P	Urbach-Wiethe disease, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.598	0.0711399084985	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.008	0.67890	D	0.999	0.77913	D	0.971	0.72444	D	0.016159	0.28054	N	0.288637	0.959566	0.26181	N	2.25	0.63811	M	-1.46	0.80983	T	-3.06	0.63554	D	0.37	0.51405	-0.4977	0.68733	T	0.447	0.78282	T	10	0.5221722	0.62705	D	0.07114	0.71191	D	0.598	0.84074	0.805	0.92301	0.922501734209	0.92172	0.7089109719973451	0.70833	0.537570943843	0.51054	0.413878381252	0.26993	T	0.439746	0.78492	T	0.0744202	0.61381	D	-0.130877	0.60897	T	0.962996184825897	0.66529	D	0.819018	0.49341	T	0.6393571	0.74796	0.63119364	0.78485	0.6393571	0.74798	0.63119364	0.78485	-5.332	0.43747	T	.	.	0.473	0.63333	A	.;.;.	.;.;.	3.510544	0.49159	22.7	0.99655089468926106	0.77568	0.39830	0.26301	N	AEFGBHCI	0.509208	0.53877	D	0.114984257520471	0.47161	2.94577	0.0312513492455686	0.41174	2.469312	0.999999998941111	0.74766	0.679555	0.55442	0	0.379588	0.06130	0	0.600882	0.32295	2	0.654926	0.60358	0	.	.	4.45	2.43	0.28797	1.022000	0.29655	1.615000	0.27656	0.676000	0.76740	0.801000	0.29734	0.997000	0.33255	0.927000	0.46353	0.0:0.1793:0.6355:0.1851	7.585	0.27156	166	0.93555	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1927.33	35	chr1	150508228	.	G	C	1927.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.527;DP=796;ExcessHet=0;FS=2.794;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.35;ReadPosRankSum=-1.659;SOR=0.556	GT:AD:DP:GQ:PL	0/1:75,81:156:99:1941,0,1933	18	0	1	0
chr1	152214827	152214827	A	0	exonic	HRNR	.	.	.	.	441	898	8	0	175	183	0.00443459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2632	1290.07	114	chr1	152214827	.	A	*	1290.07	.	AC=10;AF=0.263;AN=38;BaseQRankSum=-2.362;DP=5607;ExcessHet=13.8672;FS=40.595;InbreedingCoeff=-0.5202;MLEAC=10;MLEAF=0.263;MQ=28.03;MQRankSum=2.54;QD=0.28;ReadPosRankSum=-5.241;SOR=10.182	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:280,71:351:99:0|1:152214821_T_A:1991,0,11358:152214821	9	0	10	0
chr1	152214830	152214830	C	0	exonic	HRNR	.	.	.	.	441	924	156	0	1	157	0.0778443	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2632	637.96	114	chr1	152214830	.	C	*	637.96	.	AC=10;AF=0.263;AN=38;BaseQRankSum=0;DP=5543;ExcessHet=11.1788;FS=40.595;InbreedingCoeff=-0.4637;MLEAC=10;MLEAF=0.263;MQ=27.92;MQRankSum=1.43;QD=0.15;ReadPosRankSum=-5.927;SOR=10.041	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:280,71:351:99:0|1:152214821_T_A:1991,0,11358:152214821	9	0	10	0
chr1	152219783	152219783	T	C	exonic	HRNR	.	nonsynonymous SNV	HRNR:NM_001009931:exon3:c.A1846G:p.T616A	.	420	854	248	0	0	248	0.126789	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.00149476757281	.	0.000199681	1.647e-05	0	0	0.0001	0	1.498e-05	0	0	7.68e-05	2	26028	rs76694305	6.24e-06	0.0020	6.892e-06	5.579e-06	6.362e-06	2.94e-06	2.13e-06	2.65e-06	1.7e-06	0	0	0	0	0	0	6.362e-06	3.368e-05	0	0.0003	0.0047	0.0003	0.0002	0.0004	0.0002	0.0002	0.0001	0.0001	7.735e-05	0	0.0004	0.0003	0.0002	0.0010	0	0.0002	0.0005	0.0002	0.216	0.19225	T	0.964	0.02522	T	0.16	0.28337	B	0.045	0.24526	B	.	.	.	.	1	0.08975	N	-0.205	0.04094	N	3.85	0.03650	T	-0.15	0.09297	N	0.069	0.04188	-0.9114	0.46682	T	0.001	0.00438	T	9	0.026376784	0.00806	T	0.001495	0.02292	T	0.006	0.00375	.	.	0.159798565429	0.15598	0.04495321470064539	0.04439	.	.	0.464960455894	0.33990	T	0.014021	0.12018	T	-0.440938	0.01277	T	-0.871154	0.00731	T	0.00228779240499744	0.00024	T	0.134287	0.01062	T	0.029704548	0.02508	0.040587634	0.04419	0.029704548	0.02508	0.040587634	0.04419	-5.418	0.41092	T	.	.	0.094	0.14385	B	.	.	-0.757427	0.01194	0.058	0.35753390048393252	0.02262	0.00077	0.00530	N	AEFBI	0.019714	0.00710	N	-1.8260051593638	0.00485	0.02085899	-1.92679296248285	0.00433	0.01915755	0.0320252303258179	0.14034	0.553676	0.25195	0	0.588066	0.40923	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	3.75	-7.45	0.01229	-3.458000	0.00516	.	.	-0.133000	0.13014	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.1213:0.532:0.0:0.3467	8.348	0.31445	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	.	.	.	.	.	.	.	.	0.1944	5052.02	615	chr1	152219783	.	T	C	5052.02	.	AC=7;AF=0.194;AN=36;BaseQRankSum=7.93;DP=8689;ExcessHet=2.9153;FS=29.204;InbreedingCoeff=-0.2459;MLEAC=7;MLEAF=0.194;MQ=51.63;MQRankSum=-10.48;QD=1.56;ReadPosRankSum=-7.619;SOR=3.236	GT:AD:DP:GQ:PL	0/1:368,72:440:99:1222,0,10415	11	0	7	1
chr1	152910506	152910506	C	0	exonic	IVL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	4491.75	16	chr1	152910506	.	C	*	4491.75	.	AC=2;AF=0.056;AN=36;BaseQRankSum=-0.102;DP=774;ExcessHet=1.0583;FS=1.511;InbreedingCoeff=-0.0149;MLEAC=2;MLEAF=0.056;MQ=56.04;MQRankSum=0;QD=17.08;ReadPosRankSum=-0.832;SOR=0.594	GT:AD:DP:GQ:PL	0/1:28,10:38:99:268,0,795	16	0	2	1
chr1	155186148	155186148	G	C	exonic	MUC1	.	nonsynonymous SNV	MUC1:NM_001044391:exon5:c.C440G:p.S147C,MUC1:NM_001044392:exon5:c.C467G:p.S156C,MUC1:NM_001204297:exon5:c.C521G:p.S174C,MUC1:NM_001204295:exon6:c.C557G:p.S186C,MUC1:NM_001044390:exon7:c.C599G:p.S200C,MUC1:NM_001204289:exon7:c.C704G:p.S235C,MUC1:NM_001204290:exon7:c.C641G:p.S214C,MUC1:NM_001204291:exon7:c.C713G:p.S238C,MUC1:NM_001204292:exon7:c.C707G:p.S236C,MUC1:NM_001204294:exon7:c.C680G:p.S227C,MUC1:NM_001204296:exon7:c.C626G:p.S209C,MUC1:NM_001018016:exon8:c.C782G:p.S261C,MUC1:NM_001018017:exon8:c.C755G:p.S252C,MUC1:NM_001204287:exon8:c.C836G:p.S279C,MUC1:NM_002456:exon8:c.C809G:p.S270C,MUC1:NM_001204285:exon9:c.C1415G:p.S472C,MUC1:NM_001204286:exon9:c.C1442G:p.S481C,MUC1:NM_001371720:exon12:c.C3680G:p.S1227C	Medullary cystic kidney disease 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	2386513	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.228	0.0730881798815	.	.	0	0	0	0	0	0	0	0	6.5e-06	1	154602	rs780727289	1.271e-05	1.231e-05	1.536e-05	9.997e-06	0.0002	7.94e-06	6.55e-06	5.88e-06	4.65e-06	0	2.535e-05	0	0	0	0.0002	1.103e-05	3.414e-05	2.469e-05	6.568e-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	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.92359	D	.	.	.	.	0.876392	0.81001	D	.	.	.	0.97	0.57419	T	-3.96	0.73684	D	0.439	0.53093	-0.4849	0.69191	T	0.277	0.64926	T	9	0.35168758	0.52013	T	0.073088	0.71700	D	0.228	0.52768	0.211	0.12923	0.7807895422	0.77876	0.4793372651105636	0.47853	.	.	0.503526747227	0.39319	T	0.148327	0.50960	T	0.106017	0.64935	D	-0.0218442	0.68907	D	0.973334670066833	0.70054	D	0.881912	0.60169	D	.	.	.	.	.	.	.	.	-13.405	0.94421	D	.	.	0.573	0.69509	P	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	5.086688	0.84923	28.4	0.98306374834759047	0.40097	0.78837	0.38958	D	ALL	0.841534	0.75872	D	0.7222473405488	0.81089	7.441647	0.666377095280683	0.79837	7.167169	0.99999999300489	0.74766	0.386957	0.05904	2	0.624146	0.53433	0	0.137785	0.03908	3	0.604944	0.38103	0	.	.	4.57	4.57	0.55860	4.825000	0.62398	9.676000	0.81232	0.676000	0.76740	0.999000	0.42656	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	13.040	0.58303	71	0.96981	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1084.33	33	chr1	155186148	.	G	C	1084.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.8;DP=722;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.06;ReadPosRankSum=-1.134;SOR=0.693	GT:AD:DP:GQ:PL	0/1:49,49:98:99:1098,0,1244	18	0	1	0
chr1	159927391	159927391	G	T	exonic	IGSF9	.	nonsynonymous SNV	IGSF9:NM_001135050:exon21:c.C3494A:p.A1165D,IGSF9:NM_020789:exon21:c.C3446A:p.A1149D	.	431	1085	6	0	0	6	0.00275735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	.	.	0.00199681	0.0012	0.0001	0.0003	0.0001	0	3.107e-05	0	0.0082	0.0009896	153	154602	rs369321557	0.0005	0.0005	0.0003	0.0008	0.0084	0.0005	0.0005	0.0079	0.0077	2.987e-05	2.236e-05	0	2.519e-05	0	0.0003	4.496e-06	0.0004	0.0084	0.0002	0.0002	0.0001	0.0004	0.0079	0.0002	0.0002	0.0059	0.0052	0	0	0	0	0	0	0	0	0	0.0079	0.008	0.58626	D	0.374	0.53788	T	0.38	0.34363	B	0.102	0.30857	B	0.736185	0.09814	N	0.839510	1	0.08975	N	0.55	0.14455	N	-0.23	0.66652	T	-0.94	0.25770	N	0.192	0.36148	-1.0586	0.12108	T	0.048	0.20355	T	9	0.0034614801	0.00061	T	.	.	.	0.042	0.11227	0.204	0.11936	0.311241185304	0.30733	0.602972607236629	0.60228	0.597040875348	0.54914	0.454618811607	0.32575	T	0.038927	0.25012	T	-0.441082	0.01274	T	-0.401373	0.33223	T	0.662330806255341	0.38998	D	0.713629	0.32527	T	0.17981353	0.39071	0.12325817	0.29723	0.17981353	0.39070	0.12325817	0.29722	-5.085	0.37748	T	.	.	0.251	0.48551	B	.;.;.	.;.;.	2.005590	0.25481	16.78	0.98614176194601022	0.43677	0.12443	0.17272	N	AEFDBI	0.172361	0.29938	N	-0.892451393769235	0.11021	0.5296624	-0.908041581136159	0.11904	0.6093048	0.999762064064855	0.42728	0.634777	0.41761	0	0.547309	0.14657	0	0.643519	0.47002	0	0.613276	0.41899	0	.	.	5.41	-2.12	0.06766	-0.028000	0.12299	1.716000	0.28228	0.667000	0.69007	0.007000	0.17678	0.749000	0.26537	0.907000	0.44265	0.4892:0.1365:0.3743:0.0	5.881	0.18101	862	0.33134	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.007576	0.02632	448.33	40	chr1	159927391	.	G	T	448.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.06;DP=724;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.87;ReadPosRankSum=0.97;SOR=0.646	GT:AD:DP:GQ:PL	0/1:39,18:57:99:462,0,1015	18	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	.	.	.	.	.	.	.	.	0.3158	3525.44	257	chr1	161048864	.	C	G	3525.44	.	AC=12;AF=0.316;AN=38;BaseQRankSum=-5.652;DP=3787;ExcessHet=11.1788;FS=204.532;InbreedingCoeff=-0.4729;MLEAC=12;MLEAF=0.316;MQ=60;MQRankSum=0;QD=1.42;ReadPosRankSum=2.07;SOR=13.483	GT:AD:DP:GQ:PL	0/1:170,39:209:96:96,0,4012	7	0	12	0
chr1	170552356	170552356	C	T	exonic	GORAB	.	nonsynonymous SNV	GORAB:NM_152281:exon5:c.C1004T:p.S335F,GORAB:NM_001320252:exon7:c.C539T:p.S180F	Geroderma osteodysplasticum, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.159	0.0639569382935	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.021	0.58089	D	0.958	0.54977	D	0.66	0.52803	P	0.418859	0.12898	N	0.749484	1	0.08975	N	2.125	0.59049	M	-0.36	0.68754	T	-2.36	0.52128	N	0.26	0.29429	-0.8157	0.54202	T	0.213	0.57428	T	10	0.26319295	0.43795	T	0.063957	0.69127	D	0.159	0.41286	0.341	0.33302	0.841547695655	0.84003	0.1988679768998058	0.19803	0.538510897305	0.51106	0.293607145548	0.09451	T	0.086582	0.37756	T	-0.084922	0.38912	T	-0.359761	0.38081	T	0.801724672317505	0.46471	D	0.656934	0.26653	T	0.0718468	0.15937	0.11222634	0.27078	0.0718468	0.15936	0.11222634	0.27077	.	.	.	.	.	0.100	0.17232	B	.	.	2.901360	0.38459	20.7	0.996246832855881	0.75655	0.38126	0.25918	N	AEFBI	0.054748	0.09980	N	-0.0544007278764658	0.39407	2.323325	-0.193849837019874	0.31763	1.800553	0.201049600645425	0.18123	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.91	4.01	0.45821	0.878000	0.27770	0.867000	0.22280	0.599000	0.40250	0.001000	0.13787	0.001000	0.17328	0.525000	0.29590	0.0:0.7943:0.1336:0.0721	10.310	0.42885	785	0.46916	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1923.33	43	chr1	170552356	.	C	T	1923.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.149;DP=1151;ExcessHet=0;FS=0.542;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.29;ReadPosRankSum=-1.666;SOR=0.78	GT:AD:DP:GQ:PL	0/1:106,81:187:99:1937,0,2644	18	0	1	0
chr1	170998254	170998254	G	A	exonic	MROH9	.	nonsynonymous SNV	MROH9:NM_001163629:exon15:c.G1576A:p.V526I,MROH9:NM_025063:exon15:c.G1576A:p.V526I	.	437	996	79	10	0	99	0.0473458	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	.	0.0069	0.0103834	0.0113	0.0052	0.0071	0.0003	0.0145	0.0092	0.01	0.0312	0.0104268	1612	154602	rs151291051	0.0082	0.0082	0.0075	0.0089	0.0304	0.0081	0.0080	0.0294	0.0290	0.0051	0.0074	0.0143	2.521e-05	0.0129	0.0250	0.0063	0.0101	0.0304	0.0081	0.0082	0.0075	0.0089	0.0313	0.0078	0.0076	0.0273	0.0257	0.0042	0.0077	0.0098	0.0156	0.0006	0.0154	0.0374	0.0074	0.0104	0.0313	0.735	0.03753	T	0.813	0.05165	T	0.226	0.30455	B	0.02	0.19048	B	0.812073	0.09243	N	0.906517	0.999997	0.08975	N	0.09	0.08384	N	-0.2	0.66113	T	-0.26	0.11185	N	0.105	0.08925	-1.0196	0.23845	T	0.031	0.13286	T	10	0.0030203462	0.00049	T	.	.	.	0.057	0.16321	.	.	.	.	0.19145774194199625	0.19063	0.0480783259734	0.05242	0.432100772858	0.29495	T	0.006903	0.06325	T	-0.513668	0.00478	T	-0.487627	0.23639	T	0.0017889166806405	0.00018	T	0.475952	0.14261	T	0.024690988	0.01327	0.026309256	0.00713	0.024690988	0.01327	0.026309256	0.00713	-3.166	0.12070	T	.	.	0.092	0.13644	B	.;.	.;.	0.588054	0.09566	6.340	0.53438278281536755	0.04940	0.00054	0.00410	N	AEFBI	0.014009	0.00207	N	-1.1659067628566	0.05523	0.2520136	-1.09123380210306	0.07872	0.38468	1.92528234130716E-4	0.05898	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.03	3.9	0.44240	1.463000	0.34887	2.664000	0.33900	-1.060000	0.01619	0.008000	0.17931	0.186000	0.23459	0.000000	0.00833	0.8949:0.0:0.1051:0.0	7.275	0.25451	837	0.37933	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.024169	0.035354	0.014946	0.008772	0.150000	0.017241	0.024390	0.030303	0.05263	3176.83	35	chr1	170998254	.	G	A	3176.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.33;DP=835;ExcessHet=0.119;FS=0.461;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.91;ReadPosRankSum=-0.294;SOR=0.661	GT:AD:DP:GQ:PL	0/1:71,54:125:99:1326,0,1653	17	0	2	0
chr1	171108151	171108151	G	T	exonic	FMO3	.	nonsynonymous SNV	FMO3:NM_001319174:exon4:c.G368T:p.R123L,FMO3:NM_001002294:exon5:c.G557T:p.R186L,FMO3:NM_006894:exon5:c.G557T:p.R186L,FMO3:NM_001319173:exon6:c.G497T:p.R166L	Trimethylaminuria, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.375	0.131620787118	.	.	8.243e-06	0	0	0	0	0	0	6.057e-05	6.5e-06	1	154602	rs143406401	3.421e-06	3.42e-06	2.723e-06	4.126e-06	0.0003	1e-06	7.3e-07	6.096e-05	2.522e-05	0	0	0	0	0	0.0003	0	1.656e-05	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.004	0.74150	D	0.983	0.60381	D	0.943	0.67921	D	0.000173	0.48594	D	0.166436	0.949644	0.37661	D	4.235	0.97980	H	-0.03	0.63077	T	-5.8	0.88148	D	0.746	0.74553	-0.0785	0.80587	T	0.432	0.77374	T	10	0.8946669	0.88817	D	0.131621	0.81389	D	0.375	0.69358	0.766	0.89373	0.630839932319	0.62781	0.6067844158050383	0.60609	0.321817298135	0.34384	0.33099681139	0.15085	T	0.175884	0.52563	T	0.111018	0.65458	D	0.018547	0.71536	D	0.994955599308014	0.86582	D	0.984801	0.94749	D	0.74737006	0.80715	0.6723641	0.80771	0.74737006	0.80717	0.6723641	0.80772	-10.835	0.78745	D	0.7266959745383709	0.80816	0.404	0.67357	A	.;.	.;.	4.087957	0.60867	24.3	0.99801493404653618	0.88639	0.93931	0.59607	D	AEFBHI	0.925543	0.90526	D	0.514856862170647	0.67969	5.152958	0.330476859177449	0.57336	3.899164	0.998525332043885	0.37129	0.525926	0.21836	0	0.573888	0.26702	0	0.615948	0.41167	0	0.564101	0.26826	0	.	.	5.08	3.21	0.35933	2.380000	0.43982	2.443000	0.32780	0.671000	0.69459	0.851000	0.30461	0.083000	0.22416	0.408000	0.26961	0.2443:0.0:0.7557:0.0	8.287	0.31097	710	0.56735	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1125.33	76	chr1	171108151	.	G	T	1125.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.99;DP=1063;ExcessHet=0;FS=0.733;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.72;ReadPosRankSum=-1.502;SOR=0.75	GT:AD:DP:GQ:PL	0/1:59,46:105:99:1139,0,1383	18	0	1	0
chr1	175085490	175085490	G	T	exonic	TNN	.	nonsynonymous SNV	TNN:NM_022093:exon6:c.G1320T:p.R440S	.	427	1036	53	6	0	65	0.0304165	.	.	.	706885	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.084	.	0.0043	0.00858626	0.0097	0.0003	0.0058	0	0.0024	0.0073	0.0228	0.0346	0.0077295	1195	154602	rs6664276	0.0066	0.0067	0.0058	0.0075	0.0296	0.0065	0.0065	0.0286	0.0283	0.0007	0.0057	0.0080	2.523e-05	0.0014	0.0186	0.0054	0.0077	0.0296	0.0055	0.0055	0.0053	0.0057	0.0309	0.0052	0.0051	0.0269	0.0253	0.0008	0.0308	0.0087	0.0081	0	0.0015	0.0204	0.0063	0.0066	0.0309	0.956	0.02116	T	0.829	0.11968	T	0.59	0.39078	P	0.25	0.39011	B	0.005966	0.32369	N	0.336036	0.601732	0.32544	D	1.435	0.35949	L	1.63	0.28002	T	-0.98	0.25986	N	0.381	0.50598	-1.0141	0.25625	T	0.032	0.13635	T	10	0.0054251254	0.00119	T	.	.	.	0.084	0.24469	0.34	0.33141	0.317084106153	0.31322	0.45807528365645644	0.45725	0.186432944156	0.20951	0.327108561993	0.14498	T	0.001212	0.00709	T	-0.504897	0.00536	T	-0.475713	0.24904	T	0.00896777639948186	0.00112	T	0.548745	0.18852	T	0.09944625	0.23469	0.09248311	0.21797	0.09944625	0.23469	0.09248311	0.21796	-4.779	0.34345	T	.	.	0.282	0.52227	B	.;.;.	.;.;.	1.756838	0.22349	15.58	0.37462397471296272	0.02470	0.56796	0.30209	D	AEFBI	0.309139	0.41553	N	-0.725968913115918	0.15295	0.7695202	-0.628736688381513	0.18756	1.003365	0.00126639096779767	0.08390	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.76	2.91	0.32903	0.435000	0.21228	1.463000	0.26696	-0.127000	0.13314	0.382000	0.26022	1.000000	0.68203	0.874000	0.41677	0.1436:0.1333:0.7231:0.0	7.738	0.27988	556	0.71678	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	0.026210	0.000000	0.029891	0.020468	0.000000	0.068966	0.030675	0.026515	0.05263	3475.83	41	chr1	175085490	.	G	T	3475.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.73;DP=993;ExcessHet=0.119;FS=11.536;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.1;ReadPosRankSum=-1.836;SOR=1.026	GT:AD:DP:GQ:PL	0/1:97,63:160:99:1482,0,2585	17	0	2	0
chr1	175117017	175117017	C	A	exonic	TNN	.	nonsynonymous SNV	TNN:NM_022093:exon10:c.C2198A:p.A733D	.	436	1074	12	0	0	12	0.00555556	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.426	.	0.0008	0.00359425	0.0021	9.694e-05	0.0015	0	0.0012	0.0010	0.0022	0.0096	0.0019275	298	154602	rs116663940	0.0012	0.0012	0.0009	0.0015	0.0090	0.0011	0.0011	0.0085	0.0083	2.987e-05	0.0012	0.0011	2.519e-05	0.0007	0.0049	0.0006	0.0013	0.0090	0.0012	0.0012	0.0010	0.0014	0.0102	0.0011	0.0010	0.0079	0.0071	2.406e-05	0.0263	0.0016	0.0003	0	0.0004	0.0034	0.0011	0.0014	0.0102	0.024	0.47745	D	0.014	0.62352	D	1.0	0.90584	D	1.0	0.97372	D	0.000068	0.52346	D	0.122403	0.999956	0.52396	D	3.335	0.90898	M	0.4	0.57261	T	-2.4	0.52776	N	0.717	0.78737	-0.3079	0.74764	T	0.307	0.67731	T	10	0.010779977	0.00238	T	.	.	.	0.426	0.73372	.	.	0.913634663873	0.91276	0.7138783631517084	0.71330	0.596689010385	0.54897	0.48877799511	0.37268	T	0.014136	0.12091	T	-0.183193	0.23262	T	-0.0289556	0.68438	D	0.12631749296627	0.15038	T	0.935906	0.79334	D	0.2517723	0.48188	0.2385868	0.49185	0.2517723	0.48188	0.2385868	0.49184	-9.471	0.70678	D	.	.	0.502	0.66816	A	.;.;.	.;.;.	4.162377	0.62525	24.5	0.99618348440778315	0.75233	0.96461	0.69254	D	AEFDBCI	0.665075	0.63402	D	0.425556774493457	0.62831	4.505746	0.307738961474211	0.55992	3.762261	0.999999883480834	0.74766	0.65861	0.49226	0	0.547309	0.14657	0	0.725225	0.93170	0	0.542086	0.14980	0	.	.	5.37	4.44	0.53164	6.759000	0.74730	5.822000	0.50091	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.015000	0.10482	0.0:0.8519:0.1481:0.0	14.362	0.66342	674	0.60593	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	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.005435	0.002924	0.000000	0.000000	0.006098	0.022727	0.02632	4002.33	35	chr1	175117017	.	C	A	4002.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.017;DP=974;ExcessHet=0;FS=3.631;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.51;ReadPosRankSum=-0.812;SOR=0.879	GT:AD:DP:GQ:PL	0/1:155,165:320:99:4016,0,3826	18	0	1	0
chr1	179142975	179142975	G	T	exonic	ABL2	.	nonsynonymous SNV	ABL2:NM_001136000:exon1:c.C70A:p.L24M,ABL2:NM_001168239:exon1:c.C70A:p.L24M,ABL2:NM_005158:exon1:c.C70A:p.L24M	Leukemia, acute myeloid, with eosinophilia (1)	431	1086	5	0	0	5	0.00229674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.151	.	.	0.0109824	0.0067	0.0001	0.0006	0	0	7.494e-05	0.0011	0.0480	0.0057179	884	154602	rs202125612	0.0029	0.0029	0.0015	0.0042	0.0455	0.0028	0.0028	0.0443	0.0438	5.974e-05	8.944e-05	3.827e-05	2.519e-05	0	0.0007	6.565e-05	0.0028	0.0455	0.0015	0.0016	0.0008	0.0023	0.0477	0.0014	0.0013	0.0426	0.0407	7.218e-05	0	0	0	0	0	0	2.94e-05	0.0005	0.0477	0.05	0.39575	D	0.229	0.44106	T	0.001	0.12996	B	0.004	0.14300	B	.	.	.	.	1	0.81001	D	.	.	.	-0.94	0.75438	T	-0.33	0.14000	N	0.252	0.30233	-0.4926	0.68916	T	0.443	0.78014	T	8	0.0033200681	0.00057	T	.	.	.	0.151	0.39764	.	.	0.566372544126	0.56301	.	.	.	.	0.299717366695	0.10359	T	.	.	.	-0.433076	0.01421	T	-0.358355	0.38243	T	0.0212990671265439	0.00832	T	0.408659	0.11777	T	.	.	.	.	.	.	.	.	-5.762	0.45333	T	.	.	0.102	0.17995	B	.;.;.	.;.;.	0.470252	0.08397	5.153	0.9679132504787068	0.31113	0.22449	0.21750	N	ALL	0.226394	0.35035	N	-0.339868788388351	0.27645	1.518464	-0.33240103306098	0.27059	1.498859	0.999999999997922	0.74766	0.441713	0.08003	0	0.491513	0.07743	0	0.55458	0.18720	0	0.56214	0.19341	0	.	.	5.34	4.41	0.52588	0.241000	0.17843	0.877000	0.22363	0.676000	0.76740	0.230000	0.24643	0.599000	0.25709	0.185000	0.21450	0.0:0.0:0.8304:0.1696	12.320	0.54300	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	0.006054	0.000000	0.000000	0.002924	0.000000	0.000000	0.003067	0.022727	0.02632	1263.33	35	chr1	179142975	.	G	T	1263.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.619;DP=723;ExcessHet=0;FS=2.521;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.03;ReadPosRankSum=0.49;SOR=0.47	GT:AD:DP:GQ:PL	0/1:53,52:105:99:1277,0,1249	18	0	1	0
chr1	179903964	179903964	A	C	splicing	TOR1AIP1	NM_001267578:exon6:c.743-2A>C;NM_015602:exon6:c.740-2A>C	.	.	.	.	.	.	.	.	.	.	1.0000	0.752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.878549	0.35703	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.256537	0.13309	T	-0.606274	0.12289	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.	.;.;.;.;.	4.233948	0.64133	24.7	0.80054460604190703	0.13023	0.68779	0.33932	D	AEFBI	.	.	.	0.627468078035172	0.74919	6.21507	0.341725435525886	0.58011	3.969298	0.389250930296501	0.20031	0.295142	0.05270	0	0.30413	0.05452	0	0.060301	0.00762	0	0.089874	0.02613	0	0.187005	0.29800	4.36	3.14	0.35196	2.145000	0.41830	4.074000	0.41688	0.756000	0.94297	0.987000	0.36337	0.918000	0.28264	0.821000	0.38685	0.7895:0.0:0.0:0.2105	6.691	0.22360	418	0.81602	.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	247.92	.	chr1	179903964	.	A	C	247.92	.	AC=3;AF=0.083;AN=36;BaseQRankSum=-2.684;DP=881;ExcessHet=0.3672;FS=124.73;InbreedingCoeff=-0.1014;MLEAC=3;MLEAF=0.083;MQ=60;MQRankSum=0;QD=1.18;ReadPosRankSum=1.52;SOR=7.476	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:66,18:84:99:0|1:179903957_A_C:129,0,1924:179903957	15	0	3	1
chr1	180014239	180014239	G	C	exonic	CEP350	.	nonsynonymous SNV	CEP350:NM_014810:exon10:c.G1786C:p.V596L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.565	0.138735317183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	7.525e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.131	0.34596	T	0.997	0.70673	D	0.933	0.66815	D	0.000494	0.43931	D	0.000000	1	0.81001	D	2.515	0.73286	M	-2.57	0.89692	D	-1.93	0.44852	N	0.804	0.79986	0.672	0.92822	D	0.818	0.93855	D	9	0.7784072	0.77650	D	0.138735	0.82122	D	0.565	0.82232	0.251	0.18912	0.933423527662	0.93273	0.2305698346646848	0.22971	0.406491481352	0.41524	0.817128300667	0.84587	D	0.124088	0.44888	T	0.411747	0.90578	D	0.353669	0.90461	D	0.993486225605011	0.84301	D	0.907609	0.67324	D	0.52510554	0.68551	0.5940318	0.76435	0.52510554	0.68552	0.5940318	0.76436	-8.814	0.66492	D	.	.	0.957	0.87648	P	.	.	4.238175	0.64232	24.7	0.99861407413495462	0.94002	0.99292	0.94053	D	AEFGBI	0.815095	0.73715	D	0.861085333927434	0.89729	10.09338	0.856523218067628	0.93392	12.01194	0.999999999986871	0.74766	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.6	5.6	0.84997	9.516000	0.97042	11.877000	0.98731	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	19.577	0.95445	185	0.92771	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.09375	114.16	65	chr1	180014239	.	G	C	114.16	.	AC=3;AF=0.094;AN=32;BaseQRankSum=-3.228;DP=1733;ExcessHet=0.3672;FS=234.926;InbreedingCoeff=-0.1582;MLEAC=3;MLEAF=0.094;MQ=60;MQRankSum=0;QD=0.43;ReadPosRankSum=0.066;SOR=11.592	GT:AD:DP:GQ:PL	0/1:67,22:89:9:9,0,1407	13	0	3	3
chr1	180014368	180014368	G	C	exonic	CEP350	.	nonsynonymous SNV	CEP350:NM_014810:exon10:c.G1915C:p.A639P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.533	0.162960905331	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.938e-07	2.052e-05	0	1.399e-06	9.079e-07	0	0	.	.	0	0	0	0	0	0	9.079e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.073	0.43159	T	0.726	0.42471	P	0.533	0.48638	P	0.000175	0.48594	D	0.000000	0.999949	0.51968	D	2.485	0.72352	M	-2.59	0.89822	D	-2.36	0.52128	N	0.8	0.79599	0.412	0.89271	D	0.732	0.90833	D	9	0.72775644	0.74088	D	0.162961	0.84241	D	0.533	0.80367	0.183	0.09131	0.719831743072	0.71736	0.3087313756742884	0.30786	0.461430799888	0.45681	0.556343972683	0.46751	T	0.023507	0.17932	T	0.312031	0.83897	D	0.210434	0.83688	D	0.951117602773591	0.63488	D	0.90031	0.65351	D	0.6567444	0.75724	0.748747	0.85149	0.6567444	0.75725	0.748747	0.85149	-9.817	0.72809	D	.	.	0.933	0.85246	P	.	.	4.491660	0.70175	25.5	0.99786338097325844	0.87219	0.99185	0.92484	D	AEFBI	0.884800	0.81480	D	0.554747268834377	0.70372	5.491825	0.618703708997397	0.76297	6.465375	0.999999999874702	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.44	5.44	0.79348	7.646000	0.82603	11.877000	0.98731	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.0:1.0:0.0	19.239	0.93860	185	0.92771	.	.	.	.	.	.	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	81.3	84	chr1	180014368	.	G	C	81.3	.	AC=3;AF=0.1;AN=30;BaseQRankSum=-3.953;DP=1628;ExcessHet=0.3672;FS=503.697;InbreedingCoeff=-0.1603;MLEAC=3;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.3;ReadPosRankSum=1.12;SOR=9.49	GT:AD:DP:GQ:PL	0/1:61,24:85:67:67,0,1518	12	0	3	4
chr1	186172049	186172049	C	G	exonic	HMCN1	.	nonsynonymous SNV	HMCN1:NM_031935:exon102:c.C15732G:p.H5244Q	.	427	1089	6	0	0	6	0.00274725	.	.	.	278045	Age_related_macular_degeneration_1|not_provided	MONDO:MONDO:0011285,MedGen:C1864205,OMIM:603075|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.259	.	0.0010	0.0209665	0.0091	0.0008	0.0067	0.0757	0.0182	0.0027	0.0044	0.0036	0.0084475	1306	154602	rs75161007	0.0050	0.0050	0.0050	0.0049	0.0912	0.0049	0.0048	0.0887	0.0877	0.0007	0.0061	0.0028	0.0912	0.0203	0.0010	0.0013	0.0052	0.0041	0.0062	0.0062	0.0043	0.0082	0.0746	0.0059	0.0057	0.0685	0.0661	0.0010	0	0.0027	0.0023	0.0746	0.0223	0	0.0025	0.0057	0.0093	0.734	0.05755	T	0.542	0.09690	T	0.01	0.15535	B	0.015	0.17295	B	0.000546	0.43413	D	0.257900	0.707318	0.30047	N	-1.22	0.00816	N	-2.95	0.91903	D	-0.85	0.35792	N	0.239	0.26957	-0.9027	0.47705	T	0.015	0.06234	T	10	0.0047116876	0.00099	T	.	.	.	0.259	0.57090	0.498	0.58835	0.649331161701	0.64641	0.27120655992590964	0.27033	0.448532232731	0.44678	0.513846695423	0.40761	T	0.194673	0.55052	T	-0.431381	0.01454	T	-0.305572	0.44134	T	0.0139865693191766	0.00269	T	0.250975	0.17878	T	0.06952151	0.15238	0.07239204	0.15614	0.08270153	0.19063	0.06453064	0.12947	-1.106	0.01124	T	.	.	0.127	0.39442	B	.;.	.;.	2.315785	0.29649	18.19	0.98037979254178143	0.37766	0.69755	0.34314	D	AEFI	0.168148	0.29488	N	-0.716422282407108	0.15561	0.7852463	-0.490710222165787	0.22408	1.216969	0.00167856418043122	0.08770	0.693126	0.56070	0	0.573888	0.26702	0	0.659464	0.59346	0	0.668105	0.65232	0	.	.	5.29	1.25	0.20475	0.184000	0.16748	-0.202000	0.10935	0.599000	0.40250	0.982000	0.35529	0.271000	0.24048	0.999000	0.91618	0.0:0.4838:0.114:0.4022	6.721	0.22521	764	0.49969	EGF-like calcium-binding domain|EGF-like calcium-binding, conserved site|EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	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	0.001512	0.000000	0.000000	0.002924	0.000000	0.000000	0.006135	0.000000	0.02632	1588.33	33	chr1	186172049	.	C	G	1588.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.063;DP=752;ExcessHet=0;FS=3.13;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.85;ReadPosRankSum=-1.232;SOR=0.464	GT:AD:DP:GQ:PL	0/1:64,70:134:99:1602,0,1546	18	0	1	0
chr1	186977737	186977737	A	G	exonic	PLA2G4A	.	nonsynonymous SNV	PLA2G4A:NM_001311193:exon14:c.A1729G:p.I577V,PLA2G4A:NM_024420:exon16:c.A1909G:p.I637V	Phospholipase A2, group IV A, deficiency of (3)	421	1040	59	2	0	63	0.029398	.	.	.	696325	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.035	.	0.0077	0.00658946	0.0085	0.0013	0.0057	0	0.0021	0.0110	0.0132	0.0116	0.0085704	1325	154602	rs28395831	0.0091	0.0091	0.0089	0.0093	0.0439	0.0089	0.0089	0.0394	0.0377	0.0025	0.0070	0.0295	5.04e-05	0.0018	0.0439	0.0090	0.0099	0.0127	0.0071	0.0071	0.0072	0.0069	0.0141	0.0067	0.0066	0.0114	0.0104	0.0020	0	0.0071	0.0346	0.0002	0.0014	0.0510	0.0094	0.0109	0.0141	0.892	0.02471	T	0.352	0.17372	T	0.003	0.11197	B	0.026	0.20792	B	0.000250	0.46924	N	0.250277	0.968559	0.38668	D	-0.745	0.01742	N	4.04	0.03121	T	0.39	0.03521	N	0.105	0.08925	-0.9427	0.42185	T	0.003	0.00832	T	10	0.0045812726	0.00095	T	.	.	.	0.035	0.08770	.	.	0.53586618445	0.53237	0.3995844948397593	0.39873	0.482066616854	0.47176	0.437642633915	0.30255	T	0.098935	0.40324	T	-0.626606	0.00100	T	-0.662464	0.08101	T	0.0106937320788063	0.00150	T	0.829517	0.49484	T	0.06799674	0.14775	0.047745768	0.06944	0.06799674	0.14774	0.047745768	0.06944	-3.377	0.14748	T	0.12229267029175715	0.11702	0.064	0.01622	B	.	.	1.949672	0.24767	16.52	0.86608487478827612	0.16651	0.64634	0.32471	D	AEFGBCI	0.157326	0.28282	N	-0.623964233145568	0.18226	0.944563	-0.393162390332354	0.25199	1.384411	0.999985796314232	0.51787	0.627647	0.40530	0	0.670034	0.63936	0	0.618467	0.43123	0	0.657601	0.63696	0	.	.	5.98	3.68	0.41359	3.259000	0.51217	6.863000	0.56768	0.756000	0.94297	0.996000	0.39380	1.000000	0.68203	0.979000	0.57723	0.7827:0.0:0.2173:0.0	8.149	0.30293	897	0.25382	Lysophospholipase, catalytic domain|Lysophospholipase, catalytic domain|Lysophospholipase, catalytic 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	0.041289	0.010101	0.044837	0.084795	0.050000	0.060345	0.024390	0.018939	0.02632	692.33	33	chr1	186977737	.	A	G	692.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.139;DP=706;ExcessHet=0;FS=0.951;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.18;ReadPosRankSum=-1.007;SOR=0.838	GT:AD:DP:GQ:PL	0/1:38,30:68:99:706,0,956	18	0	1	0
chr1	192809082	192809082	C	G	exonic	RGS2	.	nonsynonymous SNV	RGS2:NM_002923:exon1:c.C11G:p.A4G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.121	0.0257903959881	.	0.000199681	1.648e-05	9.645e-05	0	0	0	1.499e-05	0	0	1.94e-05	3	154602	rs142499684	8.902e-06	8.893e-06	6.814e-06	1.101e-05	0.0005	4.97e-06	3.83e-06	0.0001	7.541e-05	0	0	0	0	0	0.0005	9.004e-06	0	0	6.566e-06	6.561e-06	1.285e-05	0	2.405e-05	0	0	.	.	2.405e-05	0	0	0	0	0	0	0	0	0	0.025	0.47320	D	0.514	0.10678	T	0.0	0.02946	B	0.0	0.01387	B	0.056422	0.22561	N	0.399083	0.731626	0.33725	D	0.805	0.20218	L	-0.65	0.72237	T	-0.78	0.21644	N	0.326	0.36674	-0.6637	0.62113	T	0.187	0.53782	T	10	0.18033805	0.33212	T	0.02579	0.48740	D	0.121	0.33580	0.265	0.21103	0.88721644273	0.88610	0.29817331634575245	0.29730	0.0609495393058	0.06783	0.391966998577	0.23947	T	0.431972	0.77991	T	-0.240258	0.15315	T	-0.401362	0.33226	T	0.386037051677704	0.28414	T	0.716728	0.32905	T	0.0955725	0.22494	0.08864744	0.20682	0.0955725	0.22494	0.08864744	0.20682	-3.388	0.14896	T	.	.	0.169	0.37216	B	.	.	1.547204	0.19836	14.46	0.99294653945563827	0.58397	0.89164	0.49466	D	ALL	0.296219	0.40613	N	-0.340794173746003	0.27611	1.516338	-0.217467002928294	0.30908	1.744491	0.999999999999993	0.74766	0.72623	0.87236	0	0.594344	0.48745	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.44	3.52	0.39415	0.241000	0.17843	0.426000	0.18273	-0.176000	0.10722	0.703000	0.28654	0.814000	0.27065	0.004000	0.06068	0.0:0.8991:0.0:0.1009	10.136	0.41878	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	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1186.33	33	chr1	192809082	.	C	G	1186.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.652;DP=739;ExcessHet=0;FS=0.849;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.18;ReadPosRankSum=2.04;SOR=0.826	GT:AD:DP:GQ:PL	0/1:43,47:90:99:1200,0,1078	18	0	1	0
chr1	196736872	196736872	A	G	exonic	CFH	.	nonsynonymous SNV	CFH:NM_000186:exon16:c.A2462G:p.H821R	Basal laminar drusen, Autosomal dominant;Complement factor H deficiency, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.0418968334688	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.395e-06	2.736e-06	1.388e-06	1.403e-06	0.0004	2.3e-07	9e-08	6.194e-05	2.559e-05	0	0	0	0	0	0.0004	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.484	0.08140	T	0.164	0.31026	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.44	0.69777	T	0.52	0.02853	N	0.038	0.01203	-1.0439	0.16148	T	0.093	0.35255	T	9	0.06117618	0.07630	T	0.041897	0.60175	D	0.077	0.22490	0.619	0.75347	0.425367727682	0.42151	0.6236417181150219	0.62297	0.171411341593	0.19308	0.232584148645	0.02165	T	.	.	.	-0.311921	0.07580	T	-0.685829	0.06633	T	0.0200622288795456	0.00707	T	0.0955904	0.00712	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	0.00274	B	.	.	-1.339647	0.00406	0.008	0.15197893449237174	0.00363	0.01697	0.05402	N	AEFBI	0.446621	0.50260	N	-1.9724559977876	0.00242	0.01038406	-1.9302454822199	0.00426	0.01884986	2.56740196394374E-5	0.03498	0.706298	0.61202	0	0.588015	0.36545	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.84	-2.79	0.05494	-1.748000	0.01925	-5.201000	0.01809	-1.519000	0.01006	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.508:0.0:0.279:0.213	4.826	0.12781	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	.	.	.	.	.	.	.	.	0.02632	2264.33	34	chr1	196736872	.	A	G	2264.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.386;DP=863;ExcessHet=0;FS=1.081;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.39;ReadPosRankSum=-0.037;SOR=0.814	GT:AD:DP:GQ:PL	0/1:113,105:218:99:2278,0,2623	18	0	1	0
chr1	197104066	197104066	G	A	exonic	ASPM	.	nonsynonymous SNV	ASPM:NM_018136:exon18:c.C5185T:p.R1729W	Microcephaly 5, primary, autosomal recessive, Autosomal recessive	4	1426	86	6	0	98	0.0332203	.	.	.	101785	ASPM-related_disorder|not_provided|not_specified|Microcephaly_5,_primary,_autosomal_recessive	.|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0012106,MedGen:C1837501,OMIM:608716,Orphanet:2512	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.279	.	0.0094	0.00539137	0.0096	0.0018	0.0087	0.0006	0.0018	0.0124	0.0177	0.0113	0.0092366	1428	154602	rs41299623	0.0098	0.0098	0.0095	0.0101	0.0224	0.0097	0.0096	0.0192	0.0181	0.0013	0.0109	0.0190	0.0005	0.0027	0.0224	0.0102	0.0102	0.0125	0.0083	0.0083	0.0084	0.0082	0.0148	0.0079	0.0077	0.0132	0.0126	0.0016	0.0022	0.0148	0.0165	0.0002	0.0024	0.0204	0.0117	0.0171	0.0091	0.001	0.78490	D	0.001	0.83351	D	0.999	0.77913	D	0.978	0.74104	D	0.039326	0.24182	N	0.428411	1	0.81001	D	3.72	0.94773	H	1.53	0.30401	T	-3.96	0.73579	D	0.393	0.43417	-0.5736	0.65871	T	0.193	0.54652	T	10	0.004125327	0.00081	T	.	.	.	0.279	0.59619	.	.	0.3349148499	0.33108	0.08892445824681566	0.08825	.	.	0.236045047641	0.02445	T	0.339384	0.70854	T	-0.425924	0.01569	T	-0.37291	0.36548	T	0.0830932680580513	0.10378	T	0.905509	0.66687	D	0.4028834	0.60932	0.50360066	0.71306	0.4028834	0.60932	0.50360066	0.71306	-8.839	0.66655	D	0.566896680356971	0.63430	0.140	0.30608	B	.	.	4.136525	0.61946	24.4	0.99919287988164351	0.98654	0.85522	0.44663	D	AEFBCI	0.422085	0.48823	N	0.632367860663397	0.75231	6.269803	0.526582881682223	0.69785	5.410109	0.991712705357451	0.32584	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.98	5.98	0.97147	2.847000	0.47970	1.577000	0.27452	0.618000	0.50648	0.647000	0.28146	0.003000	0.18671	0.988000	0.63387	0.0:0.0:0.858:0.142	16.062	0.80647	177	0.93145	IQ motif, EF-hand binding site|IQ motif, EF-hand binding site|IQ motif, EF-hand binding site	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.021148	0.010101	0.020380	0.014620	0.100000	0.051724	0.033537	0.015152	0.07895	7235.79	51	chr1	197104066	.	G	A	7235.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.054;DP=1999;ExcessHet=0.3672;FS=1.733;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=14.22;ReadPosRankSum=0.335;SOR=0.573	GT:AD:DP:GQ:PL	0/1:98,105:203:99:2667,0,2388	16	0	3	0
chr1	197143319	197143319	G	C	exonic	ASPM	.	nonsynonymous SNV	ASPM:NM_001206846:exon3:c.C933G:p.S311R,ASPM:NM_018136:exon3:c.C933G:p.S311R	Microcephaly 5, primary, autosomal recessive, Autosomal recessive	0	1501	21	0	0	21	0.00694674	.	.	.	206754	not_specified|Inborn_genetic_diseases|Microcephaly_5,_primary,_autosomal_recessive|not_provided	MedGen:CN169374|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0012106,MedGen:C1837501,OMIM:608716,Orphanet:2512|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.029	0.0171683685263	.	0.000599042	0.0008	0	0	0	0	0.0003	0.0022	0.0042	0.0006145	95	154602	rs563858170	0.0004	0.0004	0.0003	0.0006	0.0051	0.0004	0.0004	0.0047	0.0046	0	2.236e-05	0	0	0	0.0029	0.0001	0.0008	0.0051	0.0002	0.0002	0.0001	0.0004	0.0044	0.0002	0.0002	0.0029	0.0025	2.406e-05	0	6.538e-05	0	0	0	0	0.0002	0	0.0044	0.005	0.63226	D	0.014	0.63109	D	0.196	0.29532	B	0.036	0.22909	B	0.391828	0.13244	N	0.731127	1	0.08975	N	1.83	0.48079	L	0.3	0.58755	T	-1.29	0.32791	N	0.222	0.26475	-0.9186	0.45743	T	0.154	0.48360	T	10	0.0045710206	0.00095	T	0.017168	0.38759	T	0.029	0.06676	0.191	0.10171	0.43656330218	0.43278	0.3086480884578543	0.30777	.	.	0.340711534023	0.16545	T	0.060068	0.31287	T	-0.408179	0.02044	T	-0.358831	0.38188	T	0.0191107464688734	0.00619	T	0.885811	0.61875	D	0.101184465	0.23898	0.1190928	0.28747	0.0968517	0.22820	0.08680904	0.20136	-5.32	0.40140	T	0.5299856242699648	0.60099	0.290	0.59114	B	.;.	.;.	1.870761	0.23763	16.14	0.98964838799415278	0.49403	0.62908	0.31925	D	AEFDGBIJ	0.115250	0.22668	N	-0.339159947051418	0.27672	1.520157	-0.310895020964569	0.27745	1.541806	0.999985674901629	0.51787	0.608746	0.35421	0	0.627608	0.54475	0	0.486962	0.07600	0	0.677038	0.66255	0	.	.	5.49	1.65	0.23015	0.630000	0.24244	3.447000	0.38420	0.665000	0.62972	0.902000	0.31475	1.000000	0.68203	0.808000	0.38083	0.2309:0.0:0.6095:0.1596	5.120	0.14189	214	0.91692	.;.	.	.	.	.	.	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	0.004536	0.000000	0.002717	0.002924	0.050000	0.000000	0.006098	0.007576	0.02632	2064.33	34	chr1	197143319	.	G	C	2064.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.647;DP=812;ExcessHet=0;FS=2.633;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.73;ReadPosRankSum=0.359;SOR=0.553	GT:AD:DP:GQ:PL	0/1:95,81:176:99:2078,0,2464	18	0	1	0
chr1	197539969	197539969	C	T	exonic	DENND1B	.	nonsynonymous SNV	DENND1B:NM_001195215:exon20:c.G1510A:p.A504T	.	435	1078	9	0	0	9	0.00415704	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	.	.	0.000998403	0.0006	0	0	0	0	0.0002	0	0.0038	0.0005304	82	154602	rs571739697	0.0003	0.0003	0.0002	0.0005	0.0042	0.0003	0.0003	0.0038	0.0037	0	6.742e-05	0	0	0	0.0024	7.299e-05	0.0004	0.0042	0.0002	0.0002	0.0001	0.0003	0.0043	0.0001	0.0001	0.0029	0.0024	2.406e-05	0	6.534e-05	0	0	0	0	7.351e-05	0	0.0043	.	.	.	0.761	0.04619	T	.	.	.	.	.	.	0.000769	0.41888	U	0.091059	.	.	.	.	.	.	.	.	.	.	.	.	0.134	0.13055	-1.0187	0.24139	T	0.042	0.18202	T	10	0.00928393	0.00210	T	.	.	.	.	.	.	.	0.0675242888579	0.06100	0.22223272646128783	0.22138	.	.	0.235650122166	0.02412	T	.	.	.	-0.704896	0.00034	T	-0.786466	0.02263	T	0.009175389657142	0.00116	T	0.776822	0.40920	T	0.024096845	0.01209	0.074931145	0.16445	0.024096845	0.01209	0.074931145	0.16444	-3.917	0.22557	T	.	.	0.072	0.04316	B	.	.	0.282817	0.06594	3.088	0.68813534700244283	0.08775	0.48010	0.28111	N	AEFGI	0.073533	0.14711	N	-0.914312181802754	0.10507	0.5024041	-0.918046549795543	0.11669	0.5958643	0.0181878452357043	0.13031	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	6.16	-2.45	0.06107	0.068000	0.14398	-0.314000	0.10017	0.599000	0.40250	0.878000	0.30948	0.000000	0.08366	0.060000	0.15972	0.5666:0.3006:0.0:0.1328	7.595	0.27207	363	0.84772	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	560.33	33	chr1	197539969	.	C	T	560.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.708;DP=673;ExcessHet=0;FS=1.018;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.5;ReadPosRankSum=-0.376;SOR=0.465	GT:AD:DP:GQ:PL	0/1:34,25:59:99:574,0,869	18	0	1	0
chr1	201386904	201386904	G	A	exonic	LAD1	.	nonsynonymous SNV	LAD1:NM_005558:exon3:c.C457T:p.P153S	.	406	1114	2	0	0	2	0.000896861	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.00413824900008	.	0.00179712	0.0006	0	0	0	0	0	0.0022	0.0041	0.0005175	80	154602	rs570406740	0.0002	0.0002	0.0001	0.0003	0.0026	0.0002	0.0002	0.0024	0.0022	5.982e-05	4.478e-05	0	0	0	0.0003	1.619e-05	0.0002	0.0026	0.0001	0.0001	0.0001	0.0001	0.0025	9.74e-05	8.255e-05	0.0014	0.0011	0.0002	0	0	0	0	0	0	1.47e-05	0	0.0025	0.112	0.30375	T	0.718	0.32568	T	0.154	0.42139	B	0.135	0.42079	B	0.318974	0.14303	N	0.672289	1	0.08975	N	2.425	0.70256	M	2.57	0.14160	T	-2.68	0.60029	D	0.028	0.00825	-1.0444	0.16000	T	0.031	0.13242	T	10	0.005230874	0.00114	T	0.004138	0.09931	T	0.059	0.16972	0.223	0.14665	0.0482279557977	0.04254	0.06154373075997134	0.06094	0.246772151182	0.27215	0.292933136225	0.09351	T	0.113396	0.43040	T	-0.633171	0.00091	T	-0.684072	0.06739	T	0.0382536219800152	0.03377	T	0.686031	0.38363	T	0.050453555	0.09118	0.08184062	0.18631	0.050453555	0.09117	0.08184062	0.18631	-2.555	0.06168	T	.	.	0.133	0.41249	B	.;.;.;.;.	.;.;.;.;.	2.130570	0.27123	17.36	0.99038767497953906	0.50984	0.03651	0.08906	N	AEFDBI	0.086439	0.17526	N	-0.396816411062699	0.25581	1.38977	-0.42607693484416	0.24235	1.326008	0.999968205983252	0.48965	0.732398	0.92422	0	0.547309	0.14657	0	0.743671	0.96076	0	0.542086	0.14980	0	.	.	5.17	2.11	0.26299	1.215000	0.32035	7.154000	0.57685	0.614000	0.49286	0.052000	0.21487	1.000000	0.68203	0.954000	0.50415	0.1175:0.1627:0.7198:0.0	6.61	0.21942	934	0.15400	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.003788	0.02632	1113.33	37	chr1	201386904	.	G	A	1113.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.859;DP=751;ExcessHet=0;FS=1.976;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.05;ReadPosRankSum=0.206;SOR=0.45	GT:AD:DP:GQ:PL	0/1:34,40:74:99:1127,0,900	18	0	1	0
chr1	202746142	202746142	C	T	exonic	KDM5B	.	nonsynonymous SNV	KDM5B:NM_001347591:exon14:c.G2063A:p.R688Q,KDM5B:NM_006618:exon15:c.G2198A:p.R733Q,KDM5B:NM_001314042:exon16:c.G2306A:p.R769Q	.	429	1062	29	2	0	33	0.015299	0.9976	0.922	YES	706998	not_provided|KDM5B-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.295	.	0.0008	0.00638978	0.0049	0.0002	0.0008	0	0.0091	0.0022	0.0056	0.0232	0.0043078	666	154602	rs144390145	0.0027	0.0027	0.0020	0.0033	0.0215	0.0026	0.0026	0.0206	0.0203	0.0002	0.0005	0.0079	5.048e-05	0.0084	0.0067	0.0010	0.0032	0.0215	0.0023	0.0023	0.0017	0.0030	0.0202	0.0021	0.0021	0.0169	0.0157	0.0001	0	0.0003	0.0063	0	0.0112	0	0.0015	0.0024	0.0202	0.037	0.43708	D	0.096	0.39340	T	0.128	0.27003	B	0.126	0.32692	B	0.000550	0.43413	N	0.267390	0.988208	0.40722	D	1.21	0.30464	L	-2.49	0.89145	D	-2.51	0.55181	D	0.088	0.07949	-0.2129	0.77338	T	0.527	0.82399	D	9	0.009380996	0.00212	T	.	.	.	0.295	0.61502	.	.	0.531679877283	0.52817	0.6327165268635838	0.63205	0.260510344994	0.28615	0.282812356949	0.07887	T	0.666658	0.90059	D	-0.333589	0.05844	T	-0.235698	0.51217	T	0.0268356139302734	0.01521	T	0.932307	0.75281	D	0.36550337	0.58251	0.24510102	0.49990	0.36327216	0.58084	0.28385857	0.54380	-7.829	0.59961	D	.	.	0.075	0.13221	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.738439	0.76397	26.5	0.99913855060512347	0.98238	0.95538	0.65120	D	AEFBI	0.611386	0.59985	D	-0.0328743581839105	0.40371	2.396308	0.139999071701741	0.46615	2.90461	0.999564826310346	0.40425	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.73	4.83	0.61880	4.600000	0.60792	4.857000	0.45432	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.932000	0.46971	0.0:0.9299:0.0:0.0701	14.526	0.67474	451	0.79296	Zinc finger, C5HC2-type;.;.;.;.;.;.;.;Zinc finger, C5HC2-type	.	.	.	.	.	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	0.009567	0.000000	0.006793	0.008772	0.000000	0.008621	0.015244	0.015152	0.02632	791.33	72	chr1	202746142	.	C	T	791.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.53;DP=1208;ExcessHet=0;FS=2.254;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.64;ReadPosRankSum=0.879;SOR=0.39	GT:AD:DP:GQ:PL	0/1:40,28:68:99:805,0,1011	18	0	1	0
chr1	203223530	203223530	C	A	exonic	CHIT1	.	nonsynonymous SNV	CHIT1:NM_001256125:exon4:c.G388T:p.A130S,CHIT1:NM_003465:exon5:c.G445T:p.A149S	.	417	1104	1	0	0	1	0.000452694	.	.	.	707005	Chitotriosidase_deficiency	MedGen:C3279902,OMIM:614122	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.044	.	.	0.00599042	0.0032	0	8.637e-05	0.0195	0	5.994e-05	0	0.0129	0.0027619	427	154602	rs117678693	0.0015	0.0015	0.0012	0.0018	0.0289	0.0015	0.0014	0.0275	0.0270	2.987e-05	4.472e-05	3.826e-05	0.0289	1.872e-05	0.0005	8.543e-05	0.0012	0.0105	0.0007	0.0007	0.0005	0.0010	0.0137	0.0006	0.0006	0.0112	0.0102	0	0	0	0	0.0137	0	0	4.41e-05	0	0.0079	0.086	0.32769	T	0.122	0.35710	T	0.073	0.24078	B	0.078	0.28627	B	0.151181	0.17963	N	0.464969	1	0.08975	N	0.89	0.21648	L	3.45	0.05311	T	-0.76	0.21215	N	0.197	0.27554	-0.9702	0.37157	T	0.007	0.02244	T	10	0.0033217967	0.00057	T	.	.	.	0.044	0.11924	.	.	0.297375071883	0.29337	0.24226630409919905	0.24140	0.192109018572	0.21539	0.293833076954	0.09484	T	0.194974	0.55091	T	-0.672293	0.00053	T	-0.701235	0.05759	T	0.0136108294322831	0.00252	T	0.935306	0.75759	D	0.21067715	0.43371	0.08696882	0.20184	0.21067715	0.43371	0.08696882	0.20183	-4.674	0.33754	T	0.15179982564169756	0.17937	0.091	0.12891	B	.;.	.;.	1.065065	0.14470	11.04	0.97039522609466833	0.32105	0.12319	0.17196	N	AEFBI	0.089800	0.18201	N	-0.76255414422804	0.14295	0.7108843	-0.776464619950182	0.15072	0.7908852	0.991499514676242	0.32508	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.83	0.397	0.15537	0.556000	0.23144	-0.392000	0.09469	0.599000	0.40250	0.248000	0.24829	0.000000	0.08366	0.512000	0.29290	0.1323:0.3435:0.4354:0.0888	4.693	0.12170	878	0.29785	Glycoside hydrolase family 18, catalytic domain|Chitinase II;.	.	.	.	.	.	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	0.000505	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.003788	0.02632	866.33	40	chr1	203223530	.	C	A	866.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.073;DP=731;ExcessHet=0;FS=5.36;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.2;ReadPosRankSum=0.168;SOR=1.449	GT:AD:DP:GQ:PL	0/1:26,35:61:99:880,0,640	18	0	1	0
chr1	204444146	204444146	C	T	exonic	PIK3C2B	.	nonsynonymous SNV	PIK3C2B:NM_001377334:exon18:c.G2789A:p.C930Y,PIK3C2B:NM_002646:exon20:c.G2789A:p.C930Y,PIK3C2B:NM_001377335:exon21:c.G2705A:p.C902Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.336	0.0395205411741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.846e-07	1.368e-06	1.362e-06	0	9.001e-07	0	0	.	.	0	0	0	0	0	0	9.001e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.051	0.49390	T	0.999	0.77913	D	0.985	0.76457	D	0.000000	0.84330	D	0.000000	0.997849	0.44246	D	2.33	0.66821	M	0.01	0.62459	T	-4.37	0.77061	D	0.851	0.84817	-0.6521	0.62622	T	0.334	0.70101	T	10	0.7551726	0.75928	D	0.039521	0.58854	D	0.336	0.65816	0.312	0.28612	0.731197027204	0.72880	0.44362017305618334	0.44280	1.35405607476	0.84143	0.879551887512	0.93900	D	0.617515	0.87964	D	0.289904	0.82147	D	0.17865	0.81918	D	0.956505954265594	0.64774	D	0.920508	0.71260	D	0.453303	0.64250	0.49103993	0.70556	0.453303	0.64251	0.49103993	0.70557	-10.862	0.78895	D	.	.	0.601	0.79505	P	.;.	.;.	4.755519	0.76829	26.6	0.9976745670120315	0.85583	0.90357	0.51468	D	ALL	0.660412	0.63099	D	0.458512160282776	0.64688	4.728999	0.511871425671665	0.68789	5.26863	1.0	0.98316	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.674467	0.66132	0	.	.	5.98	5.98	0.97147	2.703000	0.46778	7.616000	0.62106	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.967000	0.53440	0.144:0.856:0.0:0.0	14.830	0.69772	648	0.63242	Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain;Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3947	3415.12	35	chr1	204444146	.	C	T	3415.12	.	AC=15;AF=0.395;AN=38;BaseQRankSum=-4.545;DP=2707;ExcessHet=20.8569;FS=226.245;InbreedingCoeff=-0.6776;MLEAC=15;MLEAF=0.395;MQ=60;MQRankSum=0;QD=1.58;ReadPosRankSum=0.629;SOR=12.531	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:110,34:144:99:.:.:195,0,2694:.	4	0	15	0
chr1	207699266	207699266	T	G	exonic	CR1L	.	nonsynonymous SNV	CR1L:NM_175710:exon8:c.T1220G:p.V407G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.320	0.0247008809563	.	.	2.485e-05	0	0	0	0	1.499e-05	0	0.0001	1.94e-05	3	154602	rs773366212	2.737e-06	2.736e-06	0	5.502e-06	2.319e-05	6.4e-07	4.3e-07	3.85e-06	1.44e-06	0	0	0	0	0	0	1.799e-06	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.45039	D	0.004	0.74150	D	0.997	0.70673	D	0.658	0.52749	P	.	.	.	.	0.603986	0.32563	D	3.695	0.94570	H	-0.2	0.66113	T	-4.1	0.74900	D	0.37	0.41162	-0.3499	0.73557	T	0.336	0.70297	T	9	0.48850918	0.60852	T	0.024701	0.47687	T	0.320	0.64215	0.575	0.69957	0.42264334713	0.41881	0.5878825004662184	0.58718	0.188238644464	0.21156	0.423179805279	0.28274	T	0.027928	0.20342	T	-0.118662	0.33344	T	-0.226699	0.52090	T	0.862546563148499	0.51284	D	0.671933	0.28057	T	0.76576144	0.81794	0.59763277	0.76634	0.76576144	0.81796	0.59763277	0.76635	-11.321	0.81389	D	.	.	0.159	0.35056	B	.	.	3.282006	0.44973	22.0	0.99565868096289045	0.72075	0.40188	0.26381	N	AEFBHCI	0.071335	0.14196	N	0.154409164794246	0.49020	3.107229	-0.0164631268236269	0.38970	2.303733	0.730513614929091	0.23039	0.656854	0.48797	0	0.69481	0.67340	0	0.685742	0.62368	0	0.584449	0.35598	0	.	.	1.65	1.65	0.23015	0.869000	0.27648	0.382000	0.17791	0.363000	0.20128	0.946000	0.32893	0.000000	0.08366	0.967000	0.53440	0.0:0.0:0.0:1.0	5.443	0.15817	884	0.28482	Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP 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	.	.	.	.	.	.	.	.	0.02632	4328.33	41	chr1	207699266	.	T	G	4328.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.559;DP=2611;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.51;ReadPosRankSum=0.009;SOR=0.693	GT:AD:DP:GQ:PL	0/1:182,194:376:99:4342,0,4404	18	0	1	0
chr1	212100360	212100360	A	G	exonic	DTL	.	nonsynonymous SNV	DTL:NM_001286229:exon12:c.A557G:p.D186G,DTL:NM_001286230:exon13:c.A1244G:p.D415G,DTL:NM_016448:exon14:c.A1370G:p.D457G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.526	0.0705558454721	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.851e-05	0.0028	0.0001	7.4e-05	0.0004	7.568e-05	7.088e-05	8.625e-05	8.04e-05	0.0002	0	7.808e-05	0	0	0.0004	0.0001	8.675e-05	2.365e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.106	0.39340	T	1.0	0.90584	D	0.998	0.88582	D	0.000003	0.62929	D	0.058592	0.999257	0.46462	D	2.25	0.63811	M	-0.7	0.72785	T	-1.67	0.40468	N	0.749	0.74826	-0.3539	0.73441	T	0.438	0.77695	T	10	0.75805414	0.76133	D	0.070556	0.71033	D	0.526	0.79947	0.319	0.29741	0.808314291208	0.80651	0.3264893862643791	0.32561	0.86120817891	0.68970	0.44428807497	0.31164	T	0.329649	0.69993	T	0.19523	0.73447	D	0.0426576	0.73102	D	0.955969452857971	0.64639	D	0.89741	0.64114	D	0.3560679	0.57536	0.23249285	0.48411	0.3560679	0.57536	0.23249285	0.48410	-2.972	0.09882	T	.	.	0.269	0.50334	B	.;.	.;.	4.309799	0.65871	24.9	0.99831915659102677	0.91370	0.96274	0.68342	D	AEFGBI	0.726655	0.67525	D	0.474501222025507	0.65606	4.843659	0.455932996682415	0.65097	4.781064	0.999162801006358	0.38622	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.613276	0.41899	0	.	.	5.41	4.24	0.49486	5.910000	0.69668	9.238000	0.79403	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.8598:0.1402:0.0:0.0	12.458	0.55050	665	0.61472	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2105	930.87	95	chr1	212100360	.	A	G	930.87	.	AC=8;AF=0.211;AN=38;BaseQRankSum=-3.957;DP=2027;ExcessHet=4.0268;FS=98.304;InbreedingCoeff=-0.2734;MLEAC=8;MLEAF=0.211;MQ=60;MQRankSum=0;QD=1.04;ReadPosRankSum=1.44;SOR=10.33	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:110,18:128:77:0|1:212100360_A_G:77,0,4336:212100360	11	0	8	0
chr1	212100361	212100361	C	G	exonic	DTL	.	nonsynonymous SNV	DTL:NM_001286229:exon12:c.C558G:p.D186E,DTL:NM_001286230:exon13:c.C1245G:p.D415E,DTL:NM_016448:exon14:c.C1371G:p.D457E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.311	0.0329555447533	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.37e-05	0.0014	5.667e-05	3.064e-05	5.487e-05	3.491e-05	3.173e-05	4.337e-05	3.902e-05	3.026e-05	0	3.843e-05	0	0	0	5.487e-05	1.673e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.171	0.31936	T	1.0	0.90584	D	0.996	0.84481	D	0.000003	0.62929	D	0.058592	0.989147	0.40895	D	2.25	0.63811	M	-0.6	0.71662	T	-0.8	0.22294	N	0.349	0.39052	-0.3807	0.72629	T	0.393	0.74685	T	10	0.3230481	0.49647	T	0.032956	0.54641	D	0.311	0.63269	0.299	0.26522	0.740948349148	0.73862	0.17433452095652613	0.17352	0.336806597811	0.35678	0.457547277212	0.32974	T	0.149432	0.48844	T	0.025508	0.55121	T	-0.201136	0.54540	T	0.753782212734222	0.43497	D	0.759324	0.38363	T	0.3453272	0.56701	0.20157085	0.44143	0.3453272	0.56701	0.20157085	0.44142	-3.559	0.17267	T	.	.	0.298	0.52841	B	.;.	.;.	3.620151	0.51223	23.1	0.99649687588057234	0.77192	0.89840	0.50569	D	AEFGBI	0.335728	0.43407	N	0.202993589347586	0.51343	3.316385	0.188628048828177	0.49223	3.128123	0.997589750058845	0.35786	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.613276	0.41899	0	.	.	5.41	3.55	0.39770	1.268000	0.32665	1.684000	0.28029	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.8588:0.0:0.1412	11.901	0.51966	665	0.61472	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2222	937.38	80	chr1	212100361	.	C	G	937.38	.	AC=8;AF=0.222;AN=36;BaseQRankSum=-3.466;DP=1965;ExcessHet=4.0268;FS=98.435;InbreedingCoeff=-0.3233;MLEAC=9;MLEAF=0.25;MQ=60;MQRankSum=0;QD=1.04;ReadPosRankSum=1.49;SOR=10.484	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:110,18:128:77:0|1:212100360_A_G:77,0,4336:212100360	10	0	8	1
chr1	212100362	212100362	C	G	exonic	DTL	.	nonsynonymous SNV	DTL:NM_001286229:exon12:c.C559G:p.L187V,DTL:NM_001286230:exon13:c.C1246G:p.L416V,DTL:NM_016448:exon14:c.C1372G:p.L458V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.250	0.0545165954567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.847e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.438	0.13595	T	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.25	0.63811	M	-0.81	0.73949	T	-0.71	0.20358	N	0.513	0.54409	-0.1746	0.78316	T	0.536	0.82849	D	10	0.37823913	0.53996	T	0.054517	0.65885	D	0.250	0.55888	0.198	0.11110	0.766922051636	0.76479	0.22416353566131936	0.22331	1.04972523653	0.76107	0.472474902868	0.35021	T	0.11718	0.43707	T	0.00178878	0.51901	T	-0.235207	0.51265	T	0.933079659938812	0.59956	D	0.891311	0.62583	D	0.38030902	0.59339	0.26082087	0.51851	0.38030902	0.59339	0.26082087	0.51850	-4.02	0.24102	T	.	.	0.169	0.37235	B	.;.	.;.	4.139380	0.62006	24.4	0.99826959884761401	0.90939	0.96985	0.72028	D	AEFGBI	0.698434	0.65611	D	0.646827706149991	0.76162	6.436104	0.648942237263915	0.78531	6.895201	0.9999999853233	0.74766	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.613276	0.41899	0	.	.	5.41	5.41	0.78313	5.006000	0.63731	5.980000	0.52153	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	19.553	0.95324	665	0.61472	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1842	881.54	71	chr1	212100362	.	C	G	881.54	.	AC=7;AF=0.184;AN=38;BaseQRankSum=-4.876;DP=1669;ExcessHet=2.9153;FS=98.304;InbreedingCoeff=-0.2277;MLEAC=7;MLEAF=0.184;MQ=60;MQRankSum=0;QD=1.14;ReadPosRankSum=1.65;SOR=8.726	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:110,18:128:77:0|1:212100360_A_G:77,0,4336:212100360	12	0	7	0
chr1	212100368	212100368	C	G	exonic	DTL	.	nonsynonymous SNV	DTL:NM_001286229:exon12:c.C565G:p.L189V,DTL:NM_001286230:exon13:c.C1252G:p.L418V,DTL:NM_016448:exon14:c.C1378G:p.L460V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.169	0.0373866189907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.48186	D	0.135	0.34241	T	0.992	0.64738	D	0.858	0.61127	P	0.000387	0.44960	D	0.146389	0.985426	0.24712	N	2.135	0.59519	M	-0.71	0.72889	T	-0.65	0.19085	N	0.474	0.50958	-0.7400	0.58452	T	0.334	0.70109	T	10	0.32420287	0.49747	T	0.037387	0.57584	D	0.169	0.43123	0.136	0.04008	0.699552115392	0.69695	0.2605053506941276	0.25964	0.879506373113	0.69716	0.489359259605	0.37349	T	0.167041	0.51351	T	-0.0613747	0.42691	T	-0.325937	0.41920	T	0.863689363002777	0.51391	D	0.921208	0.71446	D	0.1565374	0.35320	0.07393336	0.16121	0.1565374	0.35319	0.07393336	0.16121	-3.705	0.19392	T	.	.	0.112	0.21877	B	.;.	.;.	4.130189	0.61802	24.4	0.99745407823683807	0.83852	0.75146	0.36781	D	AEFGBI	0.133306	0.25292	N	0.269346036975183	0.54602	3.62539	0.267294656778686	0.53639	3.531912	0.974641657836459	0.29560	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.613276	0.41899	0	.	.	5.41	3.51	0.39297	1.718000	0.37622	4.025000	0.41286	0.599000	0.40250	0.972000	0.34453	0.999000	0.35428	1.000000	0.97212	0.1382:0.6517:0.0:0.2101	6.182	0.19692	665	0.61472	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	61.33	71	chr1	212100368	.	C	G	61.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-5.641;DP=1206;ExcessHet=0;FS=56.693;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.48;ReadPosRankSum=1.1;SOR=5.891	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:111,18:129:75:0|1:212100360_A_G:75,0,4297:212100360	18	0	1	0
chr1	213241200	213241200	A	G	exonic	RPS6KC1	.	nonsynonymous SNV	RPS6KC1:NM_001349663:exon6:c.A329G:p.N110S,RPS6KC1:NM_001349665:exon7:c.A329G:p.N110S,RPS6KC1:NM_001349667:exon8:c.A329G:p.N110S,RPS6KC1:NM_001349670:exon8:c.A329G:p.N110S,RPS6KC1:NM_001349672:exon8:c.A329G:p.N110S,RPS6KC1:NM_001287220:exon9:c.A329G:p.N110S,RPS6KC1:NM_001349657:exon9:c.A833G:p.N278S,RPS6KC1:NM_001349664:exon9:c.A329G:p.N110S,RPS6KC1:NM_001349671:exon9:c.A329G:p.N110S,RPS6KC1:NM_001136138:exon10:c.A1688G:p.N563S,RPS6KC1:NM_001287221:exon10:c.A1181G:p.N394S,RPS6KC1:NM_001349646:exon10:c.A1631G:p.N544S,RPS6KC1:NM_001349647:exon10:c.A1361G:p.N454S,RPS6KC1:NM_001349666:exon10:c.A329G:p.N110S,RPS6KC1:NM_001349668:exon10:c.A329G:p.N110S,RPS6KC1:NM_001287218:exon11:c.A1088G:p.N363S,RPS6KC1:NM_001287219:exon11:c.A1088G:p.N363S,RPS6KC1:NM_001349658:exon11:c.A833G:p.N278S,RPS6KC1:NM_001349661:exon11:c.A668G:p.N223S,RPS6KC1:NM_001349669:exon11:c.A329G:p.N110S,RPS6KC1:NM_012424:exon11:c.A1724G:p.N575S,RPS6KC1:NM_001349648:exon12:c.A1181G:p.N394S,RPS6KC1:NM_001349649:exon12:c.A1181G:p.N394S,RPS6KC1:NM_001349653:exon12:c.A1181G:p.N394S,RPS6KC1:NM_001349654:exon12:c.A1088G:p.N363S,RPS6KC1:NM_001349662:exon12:c.A668G:p.N223S,RPS6KC1:NM_001349650:exon13:c.A1181G:p.N394S,RPS6KC1:NM_001349652:exon13:c.A1181G:p.N394S,RPS6KC1:NM_001349659:exon13:c.A668G:p.N223S,RPS6KC1:NM_001349651:exon14:c.A1181G:p.N394S,RPS6KC1:NM_001349660:exon14:c.A668G:p.N223S	.	431	1080	11	0	0	11	0.00506679	.	.	.	1153472	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.153	.	0.0008	0.0383387	0.0206	0.0024	0.0835	0.0807	0	0.0003	0.0100	0.0475	0.018926	2926	154602	rs56060894	0.0071	0.0071	0.0063	0.0079	0.0671	0.0070	0.0069	0.0651	0.0642	0.0020	0.0671	0	0.0640	0.0003	0.0031	0.0002	0.0082	0.0468	0.0092	0.0093	0.0075	0.0110	0.0702	0.0088	0.0086	0.0642	0.0619	0.0013	0	0.0422	0	0.0702	0.0003	0	0.0003	0.0123	0.0611	0.141	0.25560	T	0.788	0.11153	T	0.011	0.16867	B	0.009	0.14300	B	0.898185	0.08639	N	0.953739	0.999987	0.18612	N	0	0.06538	N	1.44	0.32722	T	-0.58	0.17417	N	0.045	0.05037	-1.0581	0.12235	T	0.006	0.02055	T	10	0.0020132065	0.00028	T	.	.	.	0.153	0.40148	.	.	.	.	0.06278965133200469	0.06217	0.0572773442425	0.06337	0.23692458868	0.02520	T	0.010068	0.09229	T	-0.69059	0.00041	T	-0.697954	0.05938	T	0.00939620338381948	0.00120	T	0.90351	0.66280	D	0.03652894	0.04512	0.03619826	0.03018	0.03453815	0.03894	0.03619826	0.03018	-1.408	0.01586	T	.	.	0.057	0.00705	B	.;.;.;.;.;.	.;.;.;.;.;.	1.259077	0.16566	12.62	0.56067762921775277	0.05474	0.90203	0.51196	D	AEFBI	0.367456	0.45490	N	-0.522451880369752	0.21356	1.132715	-0.390262208197018	0.25285	1.389654	6.69151012511517E-4	0.07575	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.03	3.86	0.43689	5.565000	0.67067	4.668000	0.44266	0.691000	0.84096	1.000000	0.71638	0.999000	0.35428	0.731000	0.35132	0.925:0.0:0.075:0.0	10.933	0.46442	521	0.74284	.;.;.;.;.;.	.	.	.	.	rs56060894	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	0.005539	0.000000	0.002717	0.002924	0.000000	0.000000	0.003049	0.003788	0.02632	1558.33	33	chr1	213241200	.	A	G	1558.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.16;DP=756;ExcessHet=0;FS=2.226;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.99;ReadPosRankSum=0.112;SOR=0.917	GT:AD:DP:GQ:PL	0/1:71,59:130:99:1572,0,1795	18	0	1	0
chr1	220154029	220154029	G	C	exonic	RAB3GAP2	.	nonsynonymous SNV	RAB3GAP2:NM_012414:exon32:c.C3584G:p.T1195S	Martsolf syndrome, Autosomal recessive;Warburg micro syndrome 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	0.00874835817134	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.849e-07	5.199e-05	1.363e-06	0	9.003e-07	0	0	.	.	0	0	0	0	0	0	9.003e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.191	0.21066	T	0.709	0.05544	T	0.918	0.50838	P	0.243	0.38752	B	0.000001	0.62929	D	0.097802	0.989506	0.40966	D	1.965	0.53209	M	1.55	0.29866	T	-1.19	0.30346	N	0.147	0.14905	-1.1200	0.02331	T	0.056	0.23715	T	10	0.2658563	0.44086	T	0.008748	0.23099	T	0.141	0.37795	0.358	0.36060	0.223474106383	0.21959	0.16981700195601018	0.16901	0.592570687533	0.54640	0.739543437958	0.72906	T	0.027942	0.20352	T	-0.137119	0.30348	T	-0.434738	0.29399	T	0.899769723415375	0.55214	D	0.762924	0.38892	T	0.1383725	0.32004	0.21677402	0.46317	0.1383725	0.32004	0.21677402	0.46316	-2.787	0.08064	T	0.07926114128440298	0.03886	0.096	0.15475	B	.	.	3.368266	0.46533	22.3	0.99285218365232031	0.58043	0.98279	0.81205	D	AEFBI	0.720452	0.67101	D	0.402651685043986	0.61569	4.359683	0.526830799331264	0.69803	5.412558	0.999690459879266	0.41870	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.73	5.73	0.89730	6.424000	0.73282	11.862000	0.98348	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	20.260	0.98443	533	0.73433	Rab3GAP regulatory subunit, 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	.	.	.	.	.	.	.	.	0.2895	441.37	57	chr1	220154029	.	G	C	441.37	.	AC=11;AF=0.289;AN=38;BaseQRankSum=-2.586;DP=1759;ExcessHet=8.9063;FS=228.055;InbreedingCoeff=-0.3733;MLEAC=10;MLEAF=0.263;MQ=60;MQRankSum=0;QD=0.45;ReadPosRankSum=-0.074;SOR=12.31	GT:AD:DP:GQ:PL	0/1:61,44:105:99:142,0,774	8	0	11	0
chr1	228286147	228286147	G	A	exonic	OBSCN	.	nonsynonymous SNV	OBSCN:NM_001098623:exon34:c.G9074A:p.R3025H,OBSCN:NM_052843:exon34:c.G9074A:p.R3025H,OBSCN:NM_001271223:exon39:c.G10361A:p.R3454H	.	0	1521	1	0	0	1	0.000328623	.	.	.	3567030	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.110	0.0290525353566	.	.	5.742e-05	0.0001	0.0001	0.0002	0	0	0	0.0002	5.17e-05	8	154602	rs764549415	2.193e-05	2.189e-05	1.636e-05	2.756e-05	0.0001	1.587e-05	1.358e-05	7.164e-05	5.511e-05	2.991e-05	0	0	0	0	0	1.71e-05	1.659e-05	0.0001	1.314e-05	1.313e-05	1.284e-05	1.345e-05	0.0002	2.18e-06	8.2e-07	.	.	2.412e-05	0	0	0	0	0	0	0	0	0.0002	0.563	0.06322	T	0.132	0.35840	T	0.043	0.21573	B	0.007	0.15521	B	0.737648	0.09802	N	0.881324	0.999999	0.08975	N	1.345	0.33447	L	-0.28	0.67543	T	-1.74	0.41239	N	0.118	0.10769	-0.8414	0.52553	T	0.242	0.61036	T	10	0.33385044	0.50569	T	0.029053	0.51634	D	0.110	0.31079	0.568	0.69034	0.666318329589	0.66351	0.15299918120183287	0.15221	0.116783608843	0.13174	0.210332542658	0.00826	T	0.056841	0.30401	T	-0.315415	0.07280	T	-0.411413	0.32063	T	0.0496514958616007	0.05439	T	0.60064	0.22426	T	0.03851406	0.05144	0.036917493	0.03236	0.03851406	0.05143	0.036917493	0.03235	-8.473	0.64250	D	.	.	0.063	0.01491	B	.;.;.;.;.	.;.;.;.;.	2.163611	0.27570	17.51	0.98533119864132679	0.42620	0.69292	0.34130	D	AEFDBI	0.160058	0.28594	N	-0.195658899040957	0.33313	1.888664	-0.0901460511743608	0.35797	2.075292	0.00389630917701916	0.10327	0.646311	0.45356	0	0.573888	0.26702	0	0.645312	0.48771	0	0.620846	0.47308	0	.	.	5.67	3.75	0.42236	1.314000	0.33202	3.063000	0.36168	-0.103000	0.15852	0.831000	0.30147	0.424000	0.24822	0.111000	0.18785	0.1454:0.3468:0.5078:0.0	6.173	0.19644	422	0.81333	.;Immunoglobulin I-set|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.003788	0.05263	6792.81	33	chr1	228286147	.	G	A	6792.81	.	AC=2;AF=0.053;AN=38;DP=866;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=29.66;SOR=1.139	GT:AD:DP:GQ:PL	1/1:0,229:229:99:6820,685,0	18	1	0	0
chr1	237614401	237614401	G	A	exonic	RYR2	.	nonsynonymous SNV	RYR2:NM_001035:exon37:c.G5273A:p.R1758K	Arrhythmogenic right ventricular dysplasia 2, Autosomal dominant;Ventricular tachycardia, catecholaminergic polymorphic, 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	0.0133845195111	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.324	0.13392	T	.	.	.	0.011	0.15914	B	0.007	0.12992	B	0.000005	0.62929	D	0.000000	0.865277	0.35461	D	1.25	0.31749	L	-0.63	0.72011	T	-0.83	0.22727	N	0.301	0.34012	-0.8376	0.52806	T	0.217	0.57876	T	10	0.23953012	0.41095	T	0.013385	0.32738	T	0.070	0.20419	0.32	0.29902	0.63192949321	0.62891	0.7635565850291284	0.76303	0.524796132431	0.50162	0.797018110752	0.81510	T	0.434896	0.78182	T	-0.0213262	0.48664	T	-0.26841	0.47980	T	0.617944061756134	0.37122	D	0.816918	0.47330	T	0.211139	0.43431	0.18243787	0.41171	0.211139	0.43431	0.18243787	0.41171	-4.19	0.26607	T	0.105008340062862	0.08276	0.136	0.29615	B	.;.	.;.	2.934696	0.38996	20.9	0.98332480896686902	0.40358	0.94541	0.61500	D	AEFBI	0.739548	0.68407	D	-0.00970799985710741	0.41416	2.476789	0.194213519508089	0.49530	3.155019	0.844241361934401	0.24923	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.43	5.43	0.79006	4.219000	0.58357	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0757:0.0:0.9243:0.0	12.581	0.55740	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	.	.	.	.	.	.	.	.	0.02632	2598.33	34	chr1	237614401	.	G	A	2598.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.17;DP=855;ExcessHet=0;FS=1.678;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.31;ReadPosRankSum=0.286;SOR=0.693	GT:AD:DP:GQ:PL	0/1:114,97:211:99:2612,0,2965	18	0	1	0
chr1	245609358	245609358	G	A	exonic	KIF26B	.	nonsynonymous SNV	KIF26B:NM_018012:exon8:c.G1744A:p.E582K	.	422	1098	2	0	0	2	0.000909918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.533	0.0922834117181	.	.	1.08e-05	0	0	0	0	1.937e-05	0	0	1.94e-05	3	154602	rs770595821	5.486e-06	5.472e-06	9.545e-06	1.379e-06	7.204e-06	2.36e-06	1.71e-06	3.1e-06	2.24e-06	0	0	0	0	0	0	7.204e-06	0	0	1.972e-05	1.97e-05	1.285e-05	2.691e-05	7.242e-05	5.24e-06	2.45e-06	1.92e-05	1.032e-05	7.242e-05	0	0	0	0	0	0	0	0	0	0.025	0.47320	D	0.008	0.67890	D	1.0	0.90584	D	0.991	0.80445	D	.	.	.	.	1	0.81001	D	1.755	0.45626	L	-0.88	0.74689	T	-3.56	0.68880	D	0.777	0.81360	-0.0114	0.82020	T	0.497	0.80980	T	9	0.779909	0.77767	D	0.092283	0.75862	D	0.533	0.80367	0.469	0.54214	0.55067216839	0.54723	0.5877514828443344	0.58705	0.338892829597	0.35849	0.82936578989	0.86465	D	0.64017	0.88956	D	0.147274	0.69012	D	-0.0262276	0.68618	D	0.931834936141968	0.59747	D	0.968503	0.88585	D	0.46304825	0.64860	0.4173411	0.65791	0.46304825	0.64861	0.4173411	0.65791	-13.391	0.90910	D	.	.	0.854	0.79965	P	.;.	.;.	5.245585	0.88070	29.5	0.99900548296552538	0.97275	0.99190	0.92559	D	AEFDBI	0.910577	0.86867	D	0.740314089795978	0.82272	7.722033	0.734627192478254	0.85004	8.453108	0.999999999999982	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.564101	0.26826	0	.	.	5.22	5.22	0.72285	10.003000	0.99689	11.730000	0.94979	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.906000	0.44173	0.0:0.0:1.0:0.0	19.140	0.93427	971	0.05719	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	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1425.33	36	chr1	245609358	.	G	A	1425.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.832;DP=873;ExcessHet=0;FS=4.374;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.68;ReadPosRankSum=-0.223;SOR=0.829	GT:AD:DP:GQ:PL	0/1:61,61:122:99:1439,0,1512	18	0	1	0
chr1	246850241	246850241	T	C	exonic	AHCTF1	.	nonsynonymous SNV	AHCTF1:NM_001323342:exon33:c.A5765G:p.D1922G,AHCTF1:NM_001323343:exon33:c.A5765G:p.D1922G,AHCTF1:NM_015446:exon33:c.A5792G:p.D1931G	.	425	1071	26	0	0	26	0.0119926	.	.	.	2812929	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.010	0.0107291142019	0.0032	0.000798722	0.0033	0.0010	0.0015	0	0.0008	0.0046	0.0066	0.0035	0.0032406	501	154602	rs142603415	0.0044	0.0044	0.0043	0.0045	0.0121	0.0043	0.0043	0.0099	0.0090	0.0014	0.0019	0.0059	0	0.0010	0.0121	0.0048	0.0047	0.0043	0.0031	0.0031	0.0032	0.0029	0.0049	0.0028	0.0027	0.0044	0.0043	0.0015	0	0.0012	0.0040	0.0002	0.0006	0.0102	0.0049	0.0085	0.0023	0.105	0.29823	T	0.12	0.35970	T	0.002	0.09854	B	0.004	0.10090	B	0.111718	0.19388	N	0.534254	1	0.08975	N	2.075	0.57047	M	1.36	0.34452	T	-1.57	0.37955	N	0.148	0.15046	-1.0400	0.17313	T	0.062	0.25780	T	10	0.0028435588	0.00045	T	0.010729	0.27599	T	0.010	0.01040	.	.	0.184605227958	0.18053	0.16709200342744523	0.16629	0.327356970608	0.34875	0.257035255432	0.04544	T	0.152442	0.49284	T	-0.56379	0.00241	T	-0.576082	0.14896	T	0.00445664915698034	0.00048	T	0.474753	0.14169	T	0.075094275	0.16896	0.057518344	0.10469	0.075094275	0.16896	0.057518344	0.10469	-4.57	0.31792	T	.	.	0.090	0.12655	B	.;.;.	.;.;.	1.318808	0.17227	13.04	0.9066290190613534	0.19914	0.17733	0.19964	N	AEFDGBI	0.076501	0.15390	N	-0.792633561883497	0.13500	0.6655449	-0.789202850408164	0.14759	0.7728982	0.991682478203903	0.32573	0.75658	0.98901	0	0.724815	0.89359	0	0.724815	0.87919	0	0.656636	0.63459	0	.	.	5.7	2.11	0.26299	1.100000	0.30637	0.194000	0.15776	0.651000	0.53179	0.042000	0.21073	0.000000	0.08366	0.050000	0.15192	0.0:0.1456:0.2791:0.5753	5.419	0.15689	824	0.40336	.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.011405	0.015873	0.010989	0.022124	0.000000	0.008772	0.011628	0.004202	0.02632	1749.33	38	chr1	246850241	.	T	C	1749.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.607;DP=835;ExcessHet=0;FS=1.284;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.91;MQRankSum=1.05;QD=11.74;ReadPosRankSum=0.768;SOR=0.824	GT:AD:DP:GQ:PL	0/1:72,77:149:99:1763,0,1698	18	0	1	0
chr1	248406232	248406232	A	G	exonic	OR2T1	.	nonsynonymous SNV	OR2T1:NM_030904:exon1:c.A238G:p.I80V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.00102223275083	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1454654192	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.602	0.07894	T	0.0	0.02946	B	0.001	0.04355	B	0.043409	0.23741	U	0.203527	1	0.08975	N	0.175	0.09039	N	4.07	0.03033	T	0.21	0.04776	N	0.039	0.01274	-0.9346	0.43455	T	0.004	0.01226	T	10	0.041002035	0.02716	T	0.001022	0.01120	T	0.002	0.00045	0.367	0.37524	0.0716867268079	0.06686	0.03282831461294318	0.03230	0.0118324598183	0.01115	0.214069515467	0.00996	T	0.003864	0.03272	T	-0.497507	0.00590	T	-0.855557	0.00892	T	0.0211606445397522	0.00818	T	0.143986	0.01172	T	0.028645385	0.02235	0.026727654	0.00779	0.028645385	0.02234	0.026727654	0.00779	-2.875	0.08896	T	.	.	0.065	0.01859	B	.;.	.;.	-0.860230	0.00994	0.040	0.23808219423539684	0.01023	0.01881	0.05786	N	AEFBI	0.037003	0.05020	N	-1.75115778150538	0.00676	0.02916092	-1.77184807749597	0.00854	0.03814095	0.227369728459863	0.18426	0.559995	0.30671	0	0.624146	0.53433	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.71	-5.41	0.02442	-1.541000	0.02302	-9.680000	0.00790	-0.692000	0.04118	0.000000	0.06391	0.000000	0.08366	0.017000	0.10941	0.1926:0.2369:0.4547:0.1158	4.293	0.10335	982	0.03397	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	314.33	151	chr1	248406232	.	A	G	314.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.96;DP=2485;ExcessHet=0;FS=130.51;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=1.26;ReadPosRankSum=3.5;SOR=9.455	GT:AD:DP:GQ:PL	0/1:190,59:249:99:328,0,3693	18	0	1	0
chr1	248474103	248474103	C	G	exonic	OR2T3	.	nonsynonymous SNV	OR2T3:NM_001005495:exon1:c.C753G:p.I251M	.	417	1104	1	0	0	1	0.000452694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.000652200950038	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1223073137	6.842e-07	3.42e-06	1.361e-06	0	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	6.574e-06	1.97e-05	1.285e-05	0	.	0	0	.	.	0	0	0	0	0	0	0.0032	0	0	0	0.61	0.05468	T	0.277	0.21880	T	0.013	0.16609	B	0.016	0.17743	B	.	.	.	.	1	0.08975	N	0.375	0.12094	N	1.1	0.39050	T	0.01	0.06868	N	0.035	0.01004	-1.0272	0.21363	T	0.039	0.16806	T	9	0.058195055	0.06803	T	6.52E-4	0.00350	T	0.019	0.03383	0.533	0.64148	0.276065633971	0.27208	0.04715025930995605	0.04658	.	.	0.208755046129	0.00760	T	0.004209	0.03621	T	-0.316268	0.07208	T	-0.692074	0.06270	T	0.038627531063115	0.03443	T	.	.	.	0.047525335	0.08137	0.053219758	0.08922	0.047525335	0.08137	0.053219758	0.08921	-4.097	0.25246	T	.	.	0.091	0.13032	B	.	.	-1.053374	0.00698	0.020	0.083792889335596393	0.00065	0.00268	0.01460	N	AEFGI	0.024956	0.01629	N	-1.64422054487898	0.01060	0.04597741	-1.75161176053328	0.00927	0.04148494	0.0183999289105845	0.13054	0.460665	0.09802	0	0.577304	0.33150	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.37	-4.74	0.03013	-8.547000	0.00025	-20.000000	0.00162	-0.585000	0.04679	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1559:0.3802:0.2249:0.239	1.063	0.01505	982	0.03397	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	.	.	.	.	.	.	.	.	0.02632	973.33	435	chr1	248474103	.	C	G	973.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.59;DP=5187;ExcessHet=0;FS=8.799;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=46.47;MQRankSum=-6.733;QD=3.07;ReadPosRankSum=-2.421;SOR=1.334	GT:AD:DP:GQ:PL	0/1:265,52:317:99:987,0,8534	18	0	1	0
chr1	248574005	248574005	G	C	exonic	OR2T34	.	nonsynonymous SNV	OR2T34:NM_001001821:exon1:c.C753G:p.I251M	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.00126399872984	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1418418311	5.507e-06	6.844e-06	5.484e-06	5.531e-06	0.0002	2.37e-06	1.71e-06	1.33e-06	9.6e-07	3.208e-05	0	0	0	0	0.0002	4.522e-06	1.665e-05	0	1.557e-05	1.345e-05	1.51e-05	1.607e-05	7.398e-05	2.59e-06	9.7e-07	.	.	0	0	7.398e-05	0	0	0	0.0034	0	0	0	0.631	0.05137	T	0.275	0.22016	T	0.013	0.16609	B	0.026	0.20792	B	.	.	.	.	1	0.08975	N	0.54	0.13725	N	1.1	0.39050	T	-0.08	0.08187	N	0.061	0.03283	-1.0197	0.23812	T	0.052	0.21999	T	9	0.09498927	0.16931	T	0.001264	0.01708	T	0.034	0.08419	0.583	0.70990	0.514870668196	0.51130	0.04369742029690185	0.04314	.	.	0.211041390896	0.00856	T	0.001871	0.01289	T	-0.390077	0.02687	T	-0.71523	0.05029	T	0.0291145052760839	0.01854	T	0.608239	0.22965	T	0.056947753	0.11272	0.06357097	0.12613	0.056947753	0.11271	0.06357097	0.12612	-4.113	0.25481	T	.	.	0.090	0.12750	B	.	.	-1.186655	0.00545	0.013	0.082707286986098819	0.00062	0.00129	0.00800	N	AEFGI	0.013681	0.00190	N	-1.6086152849281	0.01222	0.05313836	-1.73125625627777	0.01006	0.04508467	0.00141231344147441	0.08519	0.554377	0.28877	0	0.588066	0.40923	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.37	-4.74	0.03013	-7.344000	0.00049	-20.000000	0.00162	-1.319000	0.01227	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2331:0.3661:0.4008:0.0	7.071	0.24356	982	0.03397	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	.	.	.	.	.	.	.	.	0.02632	812.33	173	chr1	248574005	.	G	C	812.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.987;DP=1988;ExcessHet=0;FS=1.644;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=47.47;MQRankSum=-1.638;QD=5.45;ReadPosRankSum=-0.628;SOR=0.857	GT:AD:DP:GQ:PL	0/1:113,36:149:99:826,0,4020	18	0	1	0
chr2	10662987	10662987	C	T	exonic	NOL10	.	nonsynonymous SNV	NOL10:NM_001261392:exon8:c.G571A:p.A191T,NOL10:NM_001261394:exon9:c.G649A:p.A217T,NOL10:NM_024894:exon9:c.G649A:p.A217T	.	.	.	.	.	.	.	.	.	.	.	2394619	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.464	0.0568547499767	0.0002	0.000199681	6.659e-05	9.728e-05	0	0.0001	0	7.548e-05	0	6.191e-05	7.12e-05	11	154602	rs141929424	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	8.962e-05	6.708e-05	0	0	3.746e-05	0.0002	0.0003	0.0002	0.0001	0.0001	0.0001	0.0001	0.0001	0.0002	9.144e-05	7.7e-05	0.0001	8.877e-05	0.0001	0	6.539e-05	0	0	9.432e-05	0	0.0002	0	0	0.004	0.68238	D	0.007	0.72224	D	0.986	0.61523	D	0.552	0.49293	P	0.000002	0.62929	D	0.102451	1	0.81001	D	2.055	0.56616	M	2.33	0.86146	T	-2.78	0.60507	D	0.758	0.77226	0.340	0.88181	D	0.662	0.88257	D	10	0.44256926	0.58194	T	0.056855	0.66755	D	0.464	0.76023	.	.	0.794323212328	0.79240	0.5155365774787456	0.51476	0.137857802033	0.15542	0.692958593369	0.66131	T	0.069428	0.33706	T	0.0747179	0.61417	D	0.133979	0.79151	D	0.107686733568793	0.13181	T	0.951205	0.83071	D	0.3520841	0.57228	0.42350623	0.66219	0.3520841	0.57228	0.42350623	0.66219	-8.188	0.62741	D	.	.	0.317	0.66957	B	.;.;.;.	.;.;.;.	4.169854	0.62683	24.5	0.99833586455101453	0.91456	0.99383	0.95317	D	AEFBI	0.862849	0.78124	D	0.409582752754991	0.61947	4.403108	0.39078331747079	0.60996	4.293718	0.999999999908833	0.74766	0.744818	0.98587	0	0.732433	0.95613	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.21	5.21	0.72005	7.840000	0.85068	7.599000	0.61500	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.814000	0.38357	0.0:1.0:0.0:0.0	17.304	0.87078	952	0.10565	.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	866.33	35	chr2	10662987	.	C	T	866.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.069;DP=695;ExcessHet=0;FS=0.822;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.44;ReadPosRankSum=0.502;SOR=0.575	GT:AD:DP:GQ:PL	0/1:44,39:83:99:880,0,1084	18	0	1	0
chr2	17516179	17516179	C	T	exonic	RAD51AP2	.	nonsynonymous SNV	RAD51AP2:NM_001099218:exon1:c.G2237A:p.R746Q,RAD51AP2:NM_001321233:exon5:c.G2210A:p.R737Q	.	437	1069	15	1	0	17	0.00788863	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	.	0.0002	0.000798722	0.0019	0.0001	0.0005	0	0.0003	0.0007	0.0033	0.0105	0.00163	252	154602	rs200773447	0.0011	0.0011	0.0007	0.0015	0.0117	0.0011	0.0010	0.0111	0.0109	2.989e-05	0.0007	0.0058	5.045e-05	5.638e-05	0.0089	0.0002	0.0015	0.0117	0.0006	0.0006	0.0004	0.0008	0.0087	0.0005	0.0005	0.0066	0.0059	4.81e-05	0	0.0012	0.0032	0	0.0002	0.0068	0.0003	0.0005	0.0087	0.632	0.05121	T	0.591	0.08189	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.895	0.01383	N	1.98	0.21865	T	0.79	0.01893	N	0.025	0.00485	-0.9490	0.41143	T	0.023	0.09604	T	9	0.0025319457	0.00038	T	.	.	.	0.012	0.01476	.	.	0.0551355673512	0.04727	0.028590898453410923	0.02809	0.0693334402013	0.07761	0.246480032802	0.03406	T	7.49E-4	0.00347	T	-0.663463	0.00060	T	-0.7164	0.04971	T	0.00516449866850072	0.00056	T	0.217878	0.02755	T	0.034361023	0.03840	0.06580975	0.13390	0.034361023	0.03840	0.06580975	0.13390	-2.718	0.07455	T	.	.	0.086	0.10787	B	.	.	0.467568	0.08370	5.125	0.33072046989265746	0.01951	0.00190	0.01102	N	AEFBI	0.025622	0.01787	N	-1.30129592362483	0.03661	0.1639218	-1.26842011852566	0.04864	0.2304515	0.0225252316555484	0.13437	0.446893	0.09132	0	0.491513	0.07743	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.25	1.84	0.24348	-0.451000	0.06869	-0.971000	0.06745	-0.108000	0.15293	0.000000	0.06391	0.000000	0.08366	0.618000	0.31844	0.0:0.3654:0.0:0.6346	7.759	0.28105	769	0.49307	.	.	.	.	.	.	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	0.007049	0.000000	0.004076	0.002924	0.000000	0.008621	0.000000	0.026515	0.05263	4411.83	36	chr2	17516179	.	C	T	4411.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.38;DP=1462;ExcessHet=0.119;FS=0.833;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.37;ReadPosRankSum=0.882;SOR=0.628	GT:AD:DP:GQ:PL	0/1:81,76:157:99:2032,0,2068	17	0	2	0
chr2	20670772	20670772	C	A	exonic	GDF7	.	nonsynonymous SNV	GDF7:NM_182828:exon2:c.C700A:p.L234M	.	419	1067	34	2	0	38	0.0174954	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.193	.	0.0026	0.00219649	0.0113	0	0	0	0	0.0237	0.0179	0.0083	0.0018046	279	154602	rs184953707	0.0082	0.0079	0.0082	0.0083	0.0382	0.0081	0.0081	0.0334	0.0316	0.0027	0.0048	0.0069	3.084e-05	0.0030	0.0382	0.0090	0.0084	0.0046	0.0060	0.0060	0.0064	0.0057	0.0094	0.0057	0.0056	0.0088	0.0086	0.0012	0.0296	0.0064	0.0081	0.0002	0.0009	0.0582	0.0094	0.0113	0.0048	0.03	0.45393	D	0.006	0.70582	D	0.997	0.70673	D	0.942	0.67772	D	0.000528	0.00629	U	121.660000	0.69947	0.30117	N	2.55	0.74443	M	-0.62	0.71895	T	-1.84	0.43149	N	0.273	0.30914	-0.7361	0.58653	T	0.381	0.73796	T	10	0.0078290105	0.00178	T	.	.	.	0.193	0.47281	.	.	0.635529869896	0.63253	0.504431532661327	0.50365	.	.	0.830165207386	0.86588	D	0.440769	0.78555	T	-0.410947	0.01959	T	-0.353678	0.38782	T	0.0229795204709291	0.01021	T	0.455554	0.13039	T	0.14518051	0.33292	0.19504318	0.43159	0.14518051	0.33292	0.19504318	0.43158	-8.269	0.62888	D	.	.	0.457	0.62557	A	.	.	2.102262	0.26750	17.23	0.98257961501667279	0.39639	0.37897	0.25866	N	AEFDBCI	0.080438	0.16263	N	-0.425792003779726	0.24567	1.327473	-0.672964456356806	0.17638	0.938766	0.999995761145897	0.74766	0.59774	0.34471	0	0.563428	0.19063	0	0.596491	0.31596	0	0.63947	0.58350	0	.	.	3.6	0.537	0.16337	0.253000	0.18066	-0.144000	0.11487	-0.257000	0.07002	0.006000	0.17386	0.000000	0.08366	0.292000	0.24309	0.1538:0.6628:0.0:0.1834	5.622	0.16738	883	0.28872	TGF-beta, 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	0.049881	0.025974	0.050000	0.112903	0.000000	0.076087	0.048276	0.000000	0.05263	1785.83	44	chr2	20670772	.	C	A	1785.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.59;DP=712;ExcessHet=0.119;FS=7.435;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.76;ReadPosRankSum=1.31;SOR=0.303	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:38,20:58:99:0|1:20670771_G_A:725,0,1517:20670771	17	0	2	0
chr2	21015495	21015495	C	T	exonic	APOB	.	nonsynonymous SNV	APOB:NM_000384:exon22:c.G3383A:p.R1128H	Hypercholesterolemia, due to ligand-defective apo B, Autosomal dominant;Hypobetalipoproteinemia, Autosomal recessive	0	1506	15	1	0	17	0.00561241	.	.	.	265379	APOB-related_disorder|Cardiovascular_phenotype|Hypercholesterolemia,_familial,_1|not_specified|Hypercholesterolemia,_autosomal_dominant,_type_B|Familial_hypobetalipoproteinemia_1|Familial_hypercholesterolemia|not_provided	.|MedGen:CN230736|MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665|MedGen:CN169374|MONDO:MONDO:0007751,MedGen:C1704417,OMIM:144010|MONDO:MONDO:0014252,MedGen:C4551990,OMIM:615558|MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.184	0.0257199592383	0.0032	0.00279553	0.0037	0.0008	0.0032	0.0001	0.0018	0.0041	0	0.0070	0.0037063	573	154602	rs12713843	0.0046	0.0046	0.0046	0.0046	0.0068	0.0045	0.0045	0.0056	0.0055	0.0009	0.0037	0.0001	2.519e-05	0.0023	0.0068	0.0050	0.0050	0.0061	0.0038	0.0038	0.0041	0.0034	0.0079	0.0035	0.0034	0.0059	0.0052	0.0007	0	0.0044	0	0.0004	0.0021	0	0.0059	0.0057	0.0079	0.096	0.31088	T	0.002	0.79402	D	.	.	.	.	.	.	0.000295	0.46274	N	0.096408	0.533726	0.31996	D	.	.	.	5.65	0.00784	T	-1.68	0.40082	N	0.372	0.41360	-0.7674	0.57000	T	0.003	0.01026	T	10	0.007625997	0.00173	T	0.02572	0.48675	D	0.184	0.45763	.	.	0.530852358449	0.52733	0.5349439724085757	0.53419	0.0427700385688	0.04614	0.22615134716	0.01696	T	.	.	.	-0.397544	0.02403	T	-0.337282	0.40654	T	0.0214380577430334	0.00847	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.04806	B	.	.	2.995653	0.40013	21.1	0.99908515955343014	0.97875	0.75412	0.36921	D	AEFBHCI	0.230590	0.35395	N	-0.0202030940790056	0.40942	2.440185	0.0445583706668865	0.41809	2.518083	0.991941940083341	0.32664	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.43	3.52	0.39415	0.144000	0.15956	-0.390000	0.09482	0.599000	0.40250	0.797000	0.29682	0.000000	0.08366	0.999000	0.91618	0.136:0.7906:0.0:0.0735	9.926	0.40661	863	0.32847	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.005051	0.002717	0.008772	0.000000	0.000000	0.003049	0.003788	0.02632	2123.33	34	chr2	21015495	.	C	T	2123.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.58;DP=799;ExcessHet=0;FS=5.91;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.52;ReadPosRankSum=1.6;SOR=0.37	GT:AD:DP:GQ:PL	0/1:78,79:159:99:2137,0,1876	18	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	.	.	.	.	.	.	.	.	0.4474	1906.46	28	chr2	23864893	.	T	C	1906.46	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-2.108;DP=1231;ExcessHet=31.086;FS=215.109;InbreedingCoeff=-0.7907;MLEAC=17;MLEAF=0.447;MQ=60;MQRankSum=0;QD=1.67;ReadPosRankSum=1.27;SOR=11.901	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:46,19:65:6:.:.:6,0,634:.	2	0	17	0
chr2	26461824	26461824	G	A	exonic	OTOF	.	nonsynonymous SNV	OTOF:NM_194322:exon25:c.C3335T:p.A1112V,OTOF:NM_004802:exon26:c.C3104T:p.A1035V,OTOF:NM_194323:exon26:c.C3104T:p.A1035V,OTOF:NM_001287489:exon43:c.C5405T:p.A1802V,OTOF:NM_194248:exon43:c.C5405T:p.A1802V	Auditory neuropathy, autosomal recessive, 1, Autosomal recessive;Deafness, autosomal recessive 9, Autosomal recessive	0	1518	4	0	0	4	0.00131579	.	.	.	884501	Nonsyndromic_genetic_hearing_loss|Autosomal_recessive_nonsyndromic_hearing_loss_9|not_specified|not_provided	MONDO:MONDO:0019497,MedGen:C5680182,Orphanet:87884|MONDO:MONDO:0010986,MedGen:C1832828,OMIM:601071,Orphanet:90636|MedGen:CN169374|MedGen:C3661900	reviewed_by_expert_panel	Uncertain_significance	.	.	.	.	.	.	.	.	0.729	0.104344452097	0.0002	.	0.0001	0	8.637e-05	0.0007	0.0002	0.0001	0.0011	6.056e-05	0.0001229	19	154602	rs144562626	0.0001	0.0001	0.0001	0.0001	0.0014	0.0001	0.0001	0.0009	0.0008	2.987e-05	0.0001	0	0.0012	3.744e-05	0.0014	8.723e-05	0.0002	8.115e-05	0.0001	0.0001	0.0001	9.403e-05	0.0002	7.088e-05	5.745e-05	7.91e-05	5.995e-05	4.814e-05	0	0.0002	0	0	0	0	0.0001	0.0005	0.0002	0.004	0.65419	D	0.004	0.74150	D	0.984	0.90584	D	0.821	0.71741	P	0.000000	0.84330	D	0.000000	1	0.81001	D	3.215	0.89331	M	-1.28	0.81815	T	-3.91	0.73042	D	0.905	0.90590	0.674	0.92851	D	0.745	0.91309	D	10	0.7725315	0.77197	D	0.104344	0.77888	D	0.729	0.90501	.	.	0.923135545112	0.92235	0.7160080674024935	0.71543	0.595449407768	0.54820	0.782173931599	0.79256	T	0.553775	0.84938	D	0.0289134	0.55579	T	0.166789	0.81217	D	0.546860992908478	0.34360	D	0.938306	0.78638	D	0.457981	0.64545	0.3295216	0.58830	0.457981	0.64546	0.3295216	0.58829	-9.5	0.70971	D	0.833605527151756	0.90384	0.821	0.83483	P	.;.;.;.;.;.	.;.;.;.;.;.	5.250827	0.88155	29.5	0.99920930668147334	0.98721	0.95367	0.64444	D	AEFBHCI	0.954083	0.97091	D	0.740958976841666	0.82315	7.73237	0.654977515743586	0.78981	6.98711	0.999999999999979	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.491513	0.07944	0	0.613276	0.41899	0	.	.	4.82	4.82	0.61641	9.943000	0.98936	9.910000	0.82419	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.736000	0.35301	0.0:0.0:1.0:0.0	17.478	0.87560	416	0.81733	.;.;C2 domain|Ferlin, sixth C2 domain;C2 domain|Ferlin, sixth C2 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	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2270.33	43	chr2	26461824	.	G	A	2270.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.826;DP=864;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.61;ReadPosRankSum=-1.046;SOR=0.662	GT:AD:DP:GQ:PL	0/1:111,103:214:99:2284,0,2545	18	0	1	0
chr2	26942028	26942028	C	T	exonic	DPYSL5	.	nonsynonymous SNV	DPYSL5:NM_001253723:exon10:c.C1168T:p.R390C,DPYSL5:NM_001253724:exon10:c.C1168T:p.R390C,DPYSL5:NM_020134:exon10:c.C1168T:p.R390C	.	.	.	.	.	.	.	.	.	.	.	3185516	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.698	0.163147241925	.	.	3.295e-05	0	0	0.0001	0	4.495e-05	0	0	3.23e-05	5	154602	rs750517458	1.437e-05	1.505e-05	1.633e-05	1.238e-05	0.0002	9.23e-06	7.84e-06	2.003e-05	1.055e-05	0	0	0	7.557e-05	0	0.0002	1.439e-05	0	1.159e-05	1.971e-05	1.97e-05	3.854e-05	0	2.939e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0.0005	0	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	0.999996	0.58761	D	3.02	0.86243	M	-2.81	0.91134	D	-6.69	0.92433	D	0.444	0.48504	0.815	0.94595	D	0.844	0.94798	D	10	0.67590225	0.70989	D	0.163147	0.84256	D	0.698	0.89099	0.718	0.85319	0.847042817354	0.84557	0.882742450835961	0.88242	2.11663288113	0.94974	0.803730070591	0.82532	D	0.828593	0.95883	D	0.0836007	0.62459	D	0.0514384	0.73679	D	0.986694931983948	0.77349	D	0.994001	0.98017	D	0.8640146	0.88393	0.57948583	0.75628	0.8640146	0.88395	0.57948583	0.75629	-8.991	0.67639	D	.	.	0.179	0.39630	B	.;.;.	.;.;.	4.995505	0.82855	27.9	0.99931012810310682	0.99387	0.59657	0.30976	D	AEFBI	0.664098	0.63338	D	0.459493497170471	0.64744	4.735918	0.346850391065462	0.58317	4.001656	0.970402660070568	0.29205	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.62	4.75	0.59954	0.529000	0.22727	3.343000	0.37723	0.599000	0.40250	0.063000	0.21864	1.000000	0.68203	0.996000	0.76049	0.1511:0.7708:0.0:0.0781	8.586	0.32819	577	0.69927	Amidohydrolase-related;Amidohydrolase-related;Amidohydrolase-related	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1553.33	38	chr2	26942028	.	C	T	1553.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.153;DP=848;ExcessHet=0;FS=1.324;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.02;ReadPosRankSum=-1.033;SOR=0.787	GT:AD:DP:GQ:PL	0/1:71,70:141:99:1567,0,1563	18	0	1	0
chr2	27131497	27131497	C	T	exonic	PREB	.	nonsynonymous SNV	PREB:NM_001330485:exon8:c.G997A:p.V333M,PREB:NM_001330484:exon9:c.G955A:p.V319M,PREB:NM_013388:exon9:c.G1171A:p.V391M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.388	0.103040636873	.	.	2.592e-05	0	0	0	0	5.226e-05	0	0	3.84e-05	1	26028	rs774576478	1.393e-06	2.052e-06	1.382e-06	1.404e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	0	0	1.198e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.44029	D	0.014	0.63109	D	0.986	0.77913	D	0.809	0.70309	P	0.000319	0.45977	D	0.143209	0.989612	0.40988	D	1.955	0.52871	M	-1.33	0.79944	T	-0.93	0.24898	N	0.367	0.42345	-0.0281	0.81671	T	0.539	0.82980	D	10	0.37354645	0.53659	T	0.103041	0.77685	D	0.388	0.70440	0.327	0.31034	0.735643650146	0.73328	0.4668275334647843	0.46601	0.5939459802	0.54724	0.467028290033	0.34272	T	0.268919	0.64107	T	0.0388007	0.56889	T	-0.182042	0.56333	T	0.552644661091374	0.34577	D	0.893211	0.63049	D	0.06777441	0.14708	0.08844648	0.20624	0.06777441	0.14707	0.08844648	0.20623	-6.54	0.50594	T	.	.	0.161	0.41449	B	.;.	.;.	4.091362	0.60938	24.3	0.98043961511498812	0.37812	0.86960	0.46361	D	AEFBCI	0.140284	0.26214	N	0.399088930359526	0.61374	4.337517	0.376188822406572	0.60101	4.19398	0.999212772994756	0.38775	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.05	4.17	0.48303	1.713000	0.37570	1.679000	0.28001	0.599000	0.40250	0.987000	0.36337	0.921000	0.28324	0.993000	0.69303	0.0:0.9053:0.0:0.0947	9.549	0.38464	327	0.86637	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	800.33	34	chr2	27131497	.	C	T	800.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.907;DP=712;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.43;ReadPosRankSum=-1.187;SOR=0.598	GT:AD:DP:GQ:PL	0/1:36,34:70:99:814,0,939	18	0	1	0
chr2	27580895	27580897	AAG	-	exonic	C2orf16	.	nonframeshift deletion	C2orf16:NM_032266:exon1:c.4323_4325del:p.R1443del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.4e-05	.	1.657e-05	0	0	0	0	2.998e-05	0	0	1.29e-05	2	154602	rs752641581	1.847e-05	1.847e-05	1.361e-05	2.338e-05	0.0003	1.265e-05	1.084e-05	6.092e-05	2.521e-05	2.987e-05	0	0	0	0	0.0003	1.619e-05	8.279e-05	1.159e-05	1.314e-05	1.313e-05	2.57e-05	0	2.414e-05	2.18e-06	8.2e-07	.	.	2.414e-05	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2247.29	36	chr2	27580894	.	CAAG	C	2247.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.28;DP=1279;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=19.37;ReadPosRankSum=0.974;SOR=0.693	GT:AD:DP:GQ:PL	0/1:58,58:116:99:2261,0,2261	18	0	1	0
chr2	28582405	28582405	G	A	exonic	PLB1	.	nonsynonymous SNV	PLB1:NM_001170585:exon24:c.G1600A:p.V534I,PLB1:NM_153021:exon25:c.G1633A:p.V545I	.	.	.	.	.	.	.	.	0.0070	0.156	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.096	0.0208291492221	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.848e-07	1.368e-06	1.362e-06	0	8.999e-07	0	0	.	.	0	0	0	0	0	0	8.999e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	0.41915	T	0.081	0.54159	T	0.019	0.32132	B	0.097	0.37792	B	0.000214	0.47681	N	0.136762	0.999869	0.54805	D	2.435	0.70606	M	2.64	0.14783	T	-0.42	0.17417	N	0.383	0.42443	-0.8600	0.51263	T	0.209	0.56866	T	9	0.4659297	0.66418	T	0.020829	0.43499	T	0.096	0.27654	0.794	0.91511	0.0806252709748	0.07271	0.2504072439166662	0.24954	0.102474208625	0.11596	0.40248966217	0.25415	T	0.027495	0.20123	T	-0.173861	0.24653	T	-0.487516	0.23650	T	0.82102632522583	0.47849	D	0.770923	0.51702	T	0.044298448	0.07057	0.06140557	0.11853	0.044298448	0.07056	0.06140557	0.11852	-7.786	0.59602	D	.	.	0.113	0.27583	B	.;.;.	.;.;.	3.210602	0.43697	21.8	0.99042684855061491	0.51051	0.93390	0.58089	D	AEFDGBI	0.631749	0.61261	D	0.294558490233508	0.55872	3.75136	0.254928659507621	0.52931	3.464695	0.999999956113513	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.51	3.67	0.41236	5.507000	0.66720	7.272000	0.57993	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.910000	0.44547	0.0806:0.0:0.7661:0.1533	8.380	0.31629	665	0.61472	GDSL lipase/esterase|Phospholipase B;.;GDSL lipase/esterase|Phospholipase B	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1032.33	37	chr2	28582405	.	G	A	1032.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.977;DP=751;ExcessHet=0;FS=0.845;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.07;ReadPosRankSum=-1.346;SOR=0.809	GT:AD:DP:GQ:PL	0/1:37,42:79:99:1046,0,1004	18	0	1	0
chr2	28926510	28926510	A	G	exonic	WDR43	.	nonsynonymous SNV	WDR43:NM_015131:exon9:c.A1129G:p.I377V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.0102188777204	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1265536186	2.761e-06	4.104e-06	1.371e-06	4.171e-06	1.195e-05	6.5e-07	4.4e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.715e-06	0	1.195e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.000131	0.49741	N	0.180395	0.980808	0.25085	N	-0.405	0.02972	N	-0.77	0.73523	T	0.3	0.04091	N	0.115	0.10340	-1.0059	0.28186	T	0.126	0.43091	T	10	0.022720307	0.00575	T	0.010219	0.26500	T	0.102	0.29158	0.402	0.43245	0.0675242888579	0.06100	0.20931166778712393	0.20847	0.128415859071	0.14478	0.335602968931	0.15779	T	0.010181	0.09213	T	-0.216802	0.18432	T	-0.549197	0.17403	T	0.0351679129923966	0.02837	T	0.590841	0.21745	T	0.017138137	0.00249	0.030117895	0.01429	0.017138137	0.00249	0.030117895	0.01428	-2.873	0.08876	T	.	.	0.063	0.01428	B	.	.	0.759568	0.11292	7.917	0.86404604364178494	0.16513	0.22452	0.21751	N	AEFBCI	0.063278	0.12220	N	-0.783497338554279	0.13739	0.6790747	-0.602554311441873	0.19427	1.042249	0.851816598148266	0.25059	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.57	1.94	0.25058	0.045000	0.13898	1.789000	0.28782	-0.095000	0.16041	0.047000	0.21291	0.999000	0.35428	0.997000	0.79791	0.727:0.0:0.273:0.0	7.985	0.29366	578	0.69858	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	417.33	28	chr2	28926510	.	A	G	417.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.895;DP=649;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.43;ReadPosRankSum=-0.081;SOR=0.874	GT:AD:DP:GQ:PL	0/1:19,21:40:99:431,0,458	18	0	1	0
chr2	38071251	38071251	C	T	exonic	CYP1B1	.	nonsynonymous SNV	CYP1B1:NM_000104:exon3:c.G1103A:p.R368H	Anterior segment dysgenesis 6, multiple subtypes;Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, Autosomal recessive	0	1399	110	13	0	136	0.0463531	.	.	YES	22778	Anterior_segment_dysgenesis_6|Glaucoma_3A|Glaucoma_3,_primary_infantile,_B|Congenital_ocular_coloboma|Irido-corneo-trabecular_dysgenesis|not_specified|Primary_congenital_glaucoma|Glaucoma,_early-onset,_digenic|not_provided|CYP1B1-related_disorder|Myopathy,_centronuclear,_5|Congenital_glaucoma	MONDO:MONDO:0015016,MedGen:C4310623,OMIM:617315|MONDO:MONDO:0009277,MedGen:C1856439,OMIM:231300,Orphanet:98976,Orphanet:98977|MONDO:MONDO:0010968,MedGen:C1832977,OMIM:600975,Orphanet:98976|Human_Phenotype_Ontology:HP:0000589,Human_Phenotype_Ontology:HP:0007767,Human_Phenotype_Ontology:HP:0007995,MONDO:MONDO:0001476,MedGen:C0009363,Orphanet:194|Human_Phenotype_Ontology:HP:0000659,MONDO:MONDO:0011414,MedGen:C0344559,OMIM:604229,Orphanet:708|MedGen:CN169374|Human_Phenotype_Ontology:HP:0008007,MONDO:MONDO:0000365,MedGen:C1533041|MedGen:C4016760|MedGen:C3661900|MedGen:CN239260|MONDO:MONDO:0014418,MedGen:C4014814,OMIM:615959,Orphanet:169186|MONDO:MONDO:0020366,MedGen:C0020302	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.751	.	0.0016	0.00419329	0.0062	0.0004	0.0033	0	0	0.0029	0.0138	0.0294	0.0050646	783	154602	rs79204362	0.0032	0.0032	0.0022	0.0043	0.0311	0.0032	0.0031	0.0302	0.0298	0.0005	0.0021	0.0205	5.038e-05	7.643e-05	0.0236	0.0009	0.0041	0.0311	0.0020	0.0020	0.0016	0.0025	0.0245	0.0018	0.0018	0.0209	0.0195	0.0005	0	0.0012	0.0179	0	0	0.0205	0.0011	0.0047	0.0245	.	.	.	0.01	0.65728	D	.	.	.	.	.	.	0.000000	0.84330	D	0.050909	0.999999	0.58761	A	3.06	0.86941	M	.	.	.	.	.	.	0.819	0.85132	0.251	0.86759	D	0.577	0.84738	D	9	0.009640098	0.00217	T	.	.	.	.	.	.	.	0.341696514166	0.33777	0.8175150785253305	0.81708	.	.	0.417915016413	0.27551	T	0.59259	0.86824	D	0.0961558	0.63873	D	0.388342	0.91724	D	0.0597581842735867	0.07131	T	0.933807	0.75196	D	0.90570295	0.91898	0.68082505	0.81245	0.8872861	0.90276	0.8142974	0.89175	-9.232	0.69178	D	.	.	0.200	0.42404	B	.;.	.;.	5.330663	0.89461	30	0.99942312783438658	0.99824	0.96543	0.69666	D	AEFDGBCI	0.942825	0.94789	D	0.728153233663213	0.81478	7.531585	0.629670928743175	0.77105	6.615648	1.0	0.98316	0.542737	0.22433	0	0.685571	0.66316	0	0.401104	0.06395	2	0.530356	0.10902	0	.	.	5.65	5.65	0.86881	7.798000	0.84489	7.710000	0.66754	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.952000	0.50033	0.0:1.0:0.0:0.0	17.194	0.86768	914	0.21048	.;.	.	.	.	.	.	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	0.013650	0.005051	0.005435	0.017544	0.050000	0.025862	0.015528	0.026515	0.07895	10407.8	176	chr2	38071251	.	C	T	10407.8	.	AC=3;AF=0.079;AN=38;BaseQRankSum=2.82;DP=1593;ExcessHet=0.3672;FS=0.522;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=13.55;ReadPosRankSum=0.148;SOR=0.772	GT:AD:DP:GQ:PL	0/1:95,132:227:99:3392,0,2298	16	0	3	0
chr2	43697278	43697278	C	T	exonic	PLEKHH2	.	nonsynonymous SNV	PLEKHH2:NM_172069:exon7:c.C610T:p.P204S	.	436	994	83	9	0	101	0.0483485	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	.	0.0061	0.0071885	0.0101	0.0016	0.0022	0.0002	0.0024	0.0091	0.0121	0.0336	0.0095988	1484	154602	rs142153423	0.0081	0.0081	0.0071	0.0090	0.0404	0.0080	0.0079	0.0361	0.0345	0.0017	0.0034	0.0092	0.0001	0.0026	0.0404	0.0068	0.0082	0.0340	0.0060	0.0060	0.0060	0.0060	0.0317	0.0057	0.0056	0.0276	0.0260	0.0019	0.0055	0.0049	0.0101	0.0004	0.0019	0.0340	0.0076	0.0071	0.0317	0.321	0.13522	T	0.36	0.16964	T	0.001	0.07471	B	0.002	0.06944	B	0.000101	0.50451	N	0.136303	0.985952	0.24662	N	0.345	0.11182	N	0.9	0.45248	T	-0.52	0.16187	N	0.044	0.01658	-1.0478	0.15016	T	0.046	0.19559	T	10	0.002683133	0.00041	T	.	.	.	0.043	0.11576	.	.	.	.	0.18599747169315667	0.18517	0.0193558594551	0.01897	0.276209801435	0.06969	T	0.010631	0.09578	T	-0.613942	0.00120	T	-0.629594	0.10446	T	0.00276598705785546	0.00029	T	0.741226	0.36032	T	0.061813172	0.12843	0.067769594	0.14065	0.061813172	0.12843	0.067769594	0.14065	-2.68	0.07136	T	.	.	0.066	0.02145	B	.	.	1.530231	0.19634	14.36	0.99065392673448482	0.51598	0.84387	0.43469	D	AEFI	0.242514	0.36396	N	-0.389099018397365	0.25855	1.406726	-0.214605360810121	0.31010	1.751141	0.00840704204609572	0.11670	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	5.01	3.08	0.34576	1.804000	0.38510	1.378000	0.26011	0.599000	0.40250	0.984000	0.35821	1.000000	0.68203	0.934000	0.47231	0.0:0.7827:0.1403:0.077	9.832	0.40114	604	0.67577	.	.	.	.	.	.	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	0.024169	0.015152	0.023098	0.017544	0.050000	0.025862	0.018293	0.049242	0.07895	2159.79	35	chr2	43697278	.	C	T	2159.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=1.17;DP=759;ExcessHet=0.3672;FS=1.086;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=10.59;ReadPosRankSum=-0.662;SOR=0.71	GT:AD:DP:GQ:PL	0/1:35,44:79:99:1012,0,696	16	0	3	0
chr2	43794624	43794624	A	C	exonic	DYNC2LI1	.	nonsynonymous SNV	DYNC2LI1:NM_001193464:exon6:c.A488C:p.N163T,DYNC2LI1:NM_001348912:exon6:c.A488C:p.N163T,DYNC2LI1:NM_001348913:exon6:c.A488C:p.N163T,DYNC2LI1:NM_015522:exon6:c.A488C:p.N163T,DYNC2LI1:NM_016008:exon6:c.A488C:p.N163T	Short-rib throacic dysplasia 15 with polydactyly, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.00274801557525	.	.	1.648e-05	0	0	0	0	0	0	0.0001	3.84e-05	1	26028	rs762694520	2.6e-05	2.599e-05	1.634e-05	3.575e-05	0.0004	1.932e-05	1.692e-05	0.0003	0.0003	0	0	0	0	0	0	0	1.656e-05	0.0004	6.57e-06	6.566e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.507	0.13306	T	0.579	0.09267	T	0.0	0.16609	B	0.002	0.10090	B	0.082474	0.20807	N	0.548927	1	0.08975	N	0.895	0.22405	L	2.36	0.30669	T	-0.64	0.18670	N	0.225	0.32812	-1.0373	0.18140	T	0.041	0.17827	T	10	0.022382349	0.00558	T	0.002748	0.05694	T	0.035	0.08770	0.287	0.24601	0.0551355673512	0.04727	0.39371943880390525	0.39286	0.038995642377	0.04153	0.310890257359	0.12041	T	0.027774	0.20267	T	-0.526149	0.00405	T	-0.683034	0.06800	T	0.00992984838126777	0.00132	T	0.580242	0.20999	T	0.05328237	0.10061	0.040197138	0.04289	0.05328237	0.10061	0.040197138	0.04289	-4.09	0.25142	T	0.08420241075176124	0.04623	0.068	0.04975	B	.;.;.	.;.;.	0.857895	0.12304	8.843	0.84101207753127771	0.15097	0.06249	0.12239	N	AEBI	0.074239	0.14875	N	-0.97418555632361	0.09157	0.4322553	-0.909555875663623	0.11868	0.6072635	7.15942430231962E-5	0.04552	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.07	1.04	0.19220	0.307000	0.19048	0.443000	0.18445	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.998000	0.85391	0.4533:0.3421:0.0735:0.1311	3.247	0.06398	616	0.66398	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1808.33	35	chr2	43794624	.	A	C	1808.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.011;DP=794;ExcessHet=0;FS=1.902;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.51;ReadPosRankSum=-1.119;SOR=0.875	GT:AD:DP:GQ:PL	0/1:93,79:172:99:1822,0,2246	18	0	1	0
chr2	46615095	46615095	C	T	exonic	PIGF	.	nonsynonymous SNV	PIGF:NM_002643:exon2:c.G70A:p.V24I,PIGF:NM_173074:exon2:c.G70A:p.V24I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.00176046466528	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.977e-07	1.368e-06	0	1.399e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	6.572e-06	6.567e-06	0	1.345e-05	2.413e-05	0	0	.	.	2.413e-05	0	0	0	0	0	0	0	0	0	0.622	0.09209	T	0.405	0.14771	T	0.0	0.07471	B	0.001	0.08700	B	0.193991	0.16772	N	0.641780	1	0.08975	N	-0.22	0.03977	N	.	.	.	0.06	0.14588	N	0.045	0.01825	-0.9920	0.32089	T	0.030	0.13023	T	9	0.058507502	0.06888	T	0.00176	0.02986	T	0.034	0.08419	0.415	0.45380	0.204665344411	0.20097	0.24070936471381188	0.23984	0.00656919236779	0.00574	0.251054406166	0.03879	T	0.034187	0.23222	T	-0.285695	0.10073	T	-0.648158	0.09083	T	0.0602534450590611	0.07209	T	0.693931	0.30359	T	0.023133699	0.01028	0.027592905	0.00923	0.023133699	0.01028	0.027592905	0.00923	-3.041	0.10629	T	.	.	0.062	0.01859	B	.;.;.	.;.;.	0.943792	0.13196	9.697	0.80299316921037001	0.13137	0.04246	0.09772	N	AEFDGBHI	0.032226	0.03598	N	-0.673948708515903	0.16765	0.857109	-0.460832988067896	0.23242	1.266476	0.999992846264113	0.74766	0.706298	0.61202	0	0.662677	0.63036	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.28	2.72	0.31179	0.801000	0.26716	0.154000	0.15327	0.599000	0.40250	0.893000	0.31264	0.985000	0.30750	0.997000	0.79791	0.0:0.371:0.0:0.629	8.209	0.30631	762	0.50290	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1256.33	33	chr2	46615095	.	C	T	1256.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-5.395;DP=700;ExcessHet=0;FS=4.54;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.32;ReadPosRankSum=-0.836;SOR=0.348	GT:AD:DP:GQ:PL	0/1:29,48:77:99:1270,0,906	18	0	1	0
chr2	47151473	47151473	C	T	exonic	STPG4	.	nonsynonymous SNV	STPG4:NM_001163561:exon3:c.G184A:p.E62K,STPG4:NM_173649:exon3:c.G184A:p.E62K	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.177	0.020389935043	.	.	8.243e-06	0	0	0.0001	0	0	0	0	1.29e-05	2	154602	rs375315225	8.21e-06	8.209e-06	9.531e-06	6.876e-06	0.0002	4.38e-06	3.46e-06	2.004e-05	1.055e-05	0	0	0	7.557e-05	0	0.0002	0	8.281e-05	3.478e-05	6.574e-06	6.568e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.023	0.48186	D	0.024	0.59732	D	0.987	0.61912	D	0.747	0.55931	P	0.002320	0.36806	N	0.121832	0.671087	0.30364	N	.	.	.	1.29	0.35775	T	-2.39	0.53096	N	0.604	0.66959	-0.7906	0.55694	T	0.142	0.46349	T	10	0.63744795	0.68863	D	0.02039	0.42975	T	0.177	0.44549	0.505	0.59924	0.47558534428	0.47187	0.492818859971522	0.49202	0.124861937674	0.14065	.	.	.	0.102414	0.41010	T	-0.166865	0.25710	T	-0.251764	0.49643	T	0.715616166591644	0.41478	D	0.844016	0.52137	T	0.44771594	0.63896	0.4527468	0.68168	0.44771594	0.63897	0.4527468	0.68168	-9.536	0.71082	D	.	.	0.332	0.59788	B	.;.	.;.	4.531967	0.71148	25.6	0.99902446105359644	0.97426	0.77097	0.37870	D	AEFBI	0.189943	0.31718	N	0.434818603768807	0.63347	4.566733	0.410209620829303	0.62200	4.431518	0.932400122260707	0.27087	0.372202	0.05800	0	0.546412	0.12157	0	0.547309	0.15389	0	0.714379	0.83352	0	.	.	5.12	3.11	0.34883	1.339000	0.33489	4.790000	0.44894	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.6936:0.3064:0.0	12.899	0.57508	830	0.39242	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1607.33	33	chr2	47151473	.	C	T	1607.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.613;DP=767;ExcessHet=0;FS=0.61;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.57;ReadPosRankSum=-0.244;SOR=0.597	GT:AD:DP:GQ:PL	0/1:83,69:152:99:1621,0,2260	18	0	1	0
chr2	55025659	55025659	G	T	exonic	RTN4	.	nonsynonymous SNV	RTN4:NM_001321859:exon3:c.C1822A:p.L608M,RTN4:NM_001321860:exon3:c.C1822A:p.L608M,RTN4:NM_001321861:exon3:c.C1822A:p.L608M,RTN4:NM_001321862:exon3:c.C1822A:p.L608M,RTN4:NM_001321863:exon3:c.C1822A:p.L608M,RTN4:NM_020532:exon3:c.C2440A:p.L814M,RTN4:NM_207521:exon3:c.C1822A:p.L608M,RTN4:NM_001321904:exon4:c.C1822A:p.L608M	.	431	1076	13	2	0	17	0.00783771	.	.	.	697606	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.084	.	0.0061	0.00379393	0.0054	0.0010	0.0028	0	0.0020	0.0082	0.0055	0.0025	0.0055756	862	154602	rs80121116	0.0079	0.0079	0.0081	0.0078	0.0091	0.0078	0.0078	0.0089	0.0089	0.0009	0.0036	0.0186	0	0.0023	0.0057	0.0091	0.0075	0.0025	0.0056	0.0056	0.0057	0.0055	0.0086	0.0053	0.0051	0.0081	0.0078	0.0016	0.0011	0.0047	0.0239	0	0.0020	0.0034	0.0086	0.0057	0.0010	0.039	0.45393	D	0.122	0.36365	T	0.855	0.47121	P	0.459	0.46380	P	0.000677	0.00662	N	3.669530	1	0.08975	N	2.25	0.63811	M	2.2	0.18724	T	-0.08	0.08187	N	0.205	0.23758	-0.9536	0.40345	T	0.047	0.20275	T	10	0.0038111806	0.00072	T	.	.	.	0.084	0.24469	.	.	0.171388866994	0.16791	0.07742202268788945	0.07678	0.121087646277	0.13643	0.242997542024	0.03067	T	0.200326	0.55787	T	-0.554311	0.00275	T	-0.562325	0.16159	T	0.0115987356139833	0.00176	T	0.582242	0.21661	T	0.06344893	0.13360	0.050419915	0.07911	0.06344893	0.13359	0.050419915	0.07910	-5.777	0.44373	T	.	.	0.09	0.15070	B	.;.;.;.;.	.;.;.;.;.	0.225672	0.06073	2.518	0.89292706127827759	0.18673	0.10869	0.16249	N	AEFBCI	0.096377	0.19456	N	-0.713090422477892	0.15654	0.7907477	-0.911291229989815	0.11827	0.604934	0.999759432413961	0.42595	0.660377	0.49826	0	0.518115	0.08659	0	0.696353	0.63694	0	0.322989	0.05693	1	.	.	5.45	-2.7	0.05651	-0.139000	0.10338	-0.721000	0.07705	-0.227000	0.07798	0.000000	0.06391	0.000000	0.08366	0.459000	0.28096	0.1916:0.3586:0.4498:0.0	8.820	0.34182	625	0.65529	.;.;.;.;.	.	.	.	.	rs80121116	Likely benign	0	0	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	0.007049	0.005051	0.005435	0.005848	0.000000	0.000000	0.021341	0.007576	0.02632	1478.33	34	chr2	55025659	.	G	T	1478.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.43;DP=888;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.79;ReadPosRankSum=0.046;SOR=0.704	GT:AD:DP:GQ:PL	0/1:93,58:151:99:1492,0,2453	18	0	1	0
chr2	71535087	71535087	A	G	exonic	DYSF	.	nonsynonymous SNV	DYSF:NM_001130455:exon14:c.A1354G:p.M452V,DYSF:NM_001130976:exon14:c.A1351G:p.M451V,DYSF:NM_001130977:exon14:c.A1351G:p.M451V,DYSF:NM_001130978:exon14:c.A1351G:p.M451V,DYSF:NM_001130983:exon14:c.A1354G:p.M452V,DYSF:NM_001130984:exon14:c.A1354G:p.M452V,DYSF:NM_001130986:exon14:c.A1354G:p.M452V,DYSF:NM_003494:exon14:c.A1351G:p.M451V,DYSF:NM_001130979:exon15:c.A1444G:p.M482V,DYSF:NM_001130980:exon15:c.A1444G:p.M482V,DYSF:NM_001130981:exon15:c.A1444G:p.M482V,DYSF:NM_001130982:exon15:c.A1447G:p.M483V,DYSF:NM_001130985:exon15:c.A1447G:p.M483V,DYSF:NM_001130987:exon15:c.A1447G:p.M483V	Miyoshi muscular dystrophy 1, Autosomal recessive;Muscular dystrophy, limb-girdle, type 2B, Autosomal recessive;Myopathy, distal, with anterior tibial onset, Autosomal recessive	0	1508	14	0	0	14	0.00462046	0.0161	0.168	.	266446	not_specified|Qualitative_or_quantitative_defects_of_dysferlin|Limb-girdle_muscular_dystrophy,_recessive|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2B|Miyoshi_muscular_dystrophy_1|Miyoshi_myopathy|not_provided	MedGen:CN169374|MONDO:MONDO:0016145,MedGen:C2931687,Orphanet:207073|MedGen:CN239352|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601,Orphanet:268|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130,Orphanet:45448|MONDO:MONDO:0009685,MedGen:C5553104,OMIM:PS254130,Orphanet:45448|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.097	0.0353071200105	0.0012	0.00139776	0.0013	0.0004	0.0011	0	0	0.0016	0.0022	0.0021	0.0012678	196	154602	rs141818764	0.0016	0.0016	0.0016	0.0016	0.0018	0.0015	0.0015	0.0017	0.0017	0.0002	0.0012	0.0020	0	0	0.0012	0.0018	0.0016	0.0016	0.0010	0.0010	0.0011	0.0009	0.0023	0.0009	0.0009	0.0013	0.0012	0.0003	0	0.0013	0.0023	0	0	0.0034	0.0015	0.0009	0.0023	0.037	0.43393	D	0.018	0.59732	D	0.001	0.35330	B	0.006	0.37080	B	0.000093	0.51296	N	0.204193	0.534562	0.33008	D	2.125	0.59049	M	-0.22	0.66474	T	-1.99	0.47175	N	0.302	0.44474	-0.7346	0.58730	T	0.135	0.44991	T	10	0.01796338	0.00387	T	0.035307	0.56258	D	0.097	0.27909	.	.	0.590700200879	0.58746	0.50391622055171	0.50313	0.152725938462	0.17232	0.393586605787	0.24173	T	0.376003	0.73949	T	-0.372563	0.03466	T	-0.321167	0.42448	T	0.028368233790925	0.01742	T	0.817418	0.51794	T	0.51351404	0.67884	0.5371858	0.73255	0.585124	0.71888	0.5802731	0.75674	-7.506	0.62033	D	0.187273842424892	0.24411	0.082	0.25882	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	3.221859	0.43898	21.8	0.97456062147104838	0.34058	0.92784	0.56537	D	AEFBI	0.753686	0.69379	D	-0.187677957809644	0.33646	1.911275	-0.0341875693923052	0.38181	2.245904	0.999990054801985	0.74766	0.706548	0.73137	0	0.59043	0.45803	0	0.80507	0.99327	0	0.714379	0.83352	0	.	.	4.84	3.64	0.40864	4.888000	0.62855	.	.	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.9117:0.0:0.0883:0.0	9.494	0.38143	530	0.73653	.;.;.;.;C2 domain|C2 domain|C2 domain|Ferlin, third C2 domain;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.003788	0.02632	1840.33	34	chr2	71535087	.	A	G	1840.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.298;DP=826;ExcessHet=0;FS=18.219;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.28;ReadPosRankSum=1.05;SOR=1.202	GT:AD:DP:GQ:PL	0/1:104,75:179:99:1854,0,2753	18	0	1	0
chr2	74880489	74880489	G	A	exonic	HK2	.	nonsynonymous SNV	HK2:NM_000189:exon10:c.G1490A:p.R497Q,HK2:NM_001371525:exon10:c.G1406A:p.R469Q	.	420	1099	3	0	0	3	0.00136302	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.644	0.067500261838	0.0006	0.000599042	0.0004	9.733e-05	0.0010	0.0001	0	0.0005	0.0011	6.07e-05	0.0004334	67	154602	rs145124653	0.0004	0.0004	0.0004	0.0005	0.0047	0.0004	0.0004	0.0033	0.0028	8.961e-05	0.0017	0	7.557e-05	1.872e-05	0.0047	0.0004	0.0008	0.0002	0.0010	0.0010	0.0006	0.0013	0.0058	0.0008	0.0008	0.0048	0.0045	7.218e-05	0	0.0058	0	0.0004	0	0.0068	0.0007	0.0009	0.0006	0.148	0.25154	T	0.344	0.20293	T	0.914	0.50529	P	0.254	0.39164	B	0.064231	0.21967	N	0.471570	0.833207	0.34950	D	1.355	0.33814	L	-4.81	0.98183	D	-1.38	0.35399	N	0.601	0.69562	0.572	0.91535	D	0.842	0.94736	D	10	0.037165135	0.02055	T	0.068	0.70184	D	0.644	0.86485	.	.	0.901481142098	0.90050	0.2959695514716237	0.29509	0.477027003376	0.46822	0.228934794664	0.01890	T	0.451168	0.79200	T	-0.146906	0.28798	T	0.00893949	0.70914	D	0.0240572653782406	0.01152	T	0.840516	0.51562	T	0.09092838	0.21293	0.089599505	0.20960	0.09092838	0.21293	0.089599505	0.20960	-5.933	0.45716	T	.	.	0.085	0.13221	B	.;.	.;.	2.390499	0.30700	18.52	0.9936598019286732	0.61240	0.36220	0.25483	N	AEFBCI	0.223826	0.34814	N	-0.389745419070266	0.25834	1.405318	-0.456308927691798	0.23369	1.274108	0.997446584822794	0.35625	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.08	0.948	0.18685	-0.202000	0.09453	1.006000	0.23296	0.676000	0.76740	0.000000	0.06391	0.020000	0.20764	0.975000	0.56047	0.3937:0.0:0.6063:0.0	8.016	0.29541	236	0.90801	Hexokinase, N-terminal;Hexokinase, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1303.33	34	chr2	74880489	.	G	A	1303.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.2;DP=751;ExcessHet=0;FS=1.558;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.64;ReadPosRankSum=-0.638;SOR=0.536	GT:AD:DP:GQ:PL	0/1:64,48:112:99:1317,0,1784	18	0	1	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	.	.	.	.	.	.	.	.	0.3947	26792.8	425	chr2	94876618	.	C	G	26792.8	.	AC=15;AF=0.395;AN=38;BaseQRankSum=-2.341;DP=5489;ExcessHet=20.8569;FS=1.497;InbreedingCoeff=-0.6522;MLEAC=15;MLEAF=0.395;MQ=57.4;MQRankSum=-17.98;QD=5.28;ReadPosRankSum=-2.883;SOR=0.85	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:312,58:370:99:0|1:94876587_C_A:1496,0,12915:94876587	4	0	15	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	0.4474	37055.9	473	chr2	94876632	.	C	T	37055.9	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-5.11;DP=6526;ExcessHet=31.086;FS=0;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=57.07;MQRankSum=-18.76;QD=5.89;ReadPosRankSum=-1.429;SOR=0.593	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:328,74:402:99:0|1:94876587_C_A:2079,0,13457:94876587	2	0	17	0
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	.	.	.	.	.	.	.	.	0.4474	43084.9	563	chr2	94876671	.	A	G	43084.9	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-7.332;DP=7395;ExcessHet=31.086;FS=1.384;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=56.94;MQRankSum=-20.34;QD=5.94;ReadPosRankSum=4.74;SOR=0.584	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:347,95:442:99:0|1:94876671_A_G:2945,0,14181:94876671	2	0	17	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	0.4474	46132.9	570	chr2	94876674	.	G	A	46132.9	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-7.405;DP=7437;ExcessHet=31.086;FS=0.657;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=56.92;MQRankSum=-20.34;QD=6.34;ReadPosRankSum=4.97;SOR=0.601	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:348,95:443:99:0|1:94876671_A_G:2942,0,14228:94876671	2	0	17	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	0.4211	17880.0	561	chr2	94876731	.	C	T	17880.0	.	AC=16;AF=0.421;AN=38;BaseQRankSum=-2.372;DP=6867;ExcessHet=25.4433;FS=3.492;InbreedingCoeff=-0.7272;MLEAC=16;MLEAF=0.421;MQ=57.57;MQRankSum=-19.85;QD=2.71;ReadPosRankSum=-1.021;SOR=1.026	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:362,81:443:99:.:.:1500,0,9510:.	3	0	16	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	.	.	.	.	.	.	.	.	0.1842	5398.38	564	chr2	94876737	.	C	A	5398.38	.	AC=7;AF=0.184;AN=38;BaseQRankSum=-3.203;DP=3835;ExcessHet=2.9153;FS=1.937;InbreedingCoeff=-0.2258;MLEAC=7;MLEAF=0.184;MQ=57.27;MQRankSum=-14.34;QD=1.77;ReadPosRankSum=-2.14;SOR=1.021	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:401,37:438:99:0|1:94876737_C_A:334,0,16637:94876737	12	0	7	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	.	.	.	.	.	.	.	.	0.1842	5526.38	560	chr2	94876740	.	A	C	5526.38	.	AC=7;AF=0.184;AN=38;BaseQRankSum=-2.091;DP=3824;ExcessHet=2.9153;FS=1.93;InbreedingCoeff=-0.2258;MLEAC=7;MLEAF=0.184;MQ=57.4;MQRankSum=-14.25;QD=1.84;ReadPosRankSum=-2.05;SOR=0.992	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:396,37:433:99:0|1:94876737_C_A:349,0,16462:94876737	12	0	7	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	.	.	.	.	.	.	.	.	0.5	25429.3	297	chr2	95855390	.	T	C	25429.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=3.2;DP=4819;ExcessHet=48.2876;FS=21.823;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=55.65;MQRankSum=-11.56;QD=5.47;ReadPosRankSum=-6.798;SOR=2.121	GT:AD:DP:GQ:PL	0/1:210,74:284:99:1706,0,5430	0	0	19	0
chr2	95855406	95855406	C	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.G5953C:p.D1985H	.	432	686	404	0	0	404	0.227477	.	.	.	679191	not_provided|Peritoneal_Gliomatosis	MedGen:C3661900|MedGen:C2938915	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.033	.	.	.	0.0207	0.0594	0.0264	0.0384	0.0257	0.0114	0.0158	0.0254	0.0092593	241	26028	rs77972623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.294	0.14793	T	0.006	0.70582	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.59	0.13317	T	1.92	0.00446	N	0.043	0.01577	-0.9422	0.42266	T	0.018	0.07282	T	7	0.0040079057	0.00077	T	.	.	.	0.033	0.08068	.	.	.	.	0.021892873855974753	0.02141	.	.	.	.	.	7.49E-4	0.00347	T	-0.353158	0.04532	T	-0.745064	0.03682	T	0.0110150628429415	0.00159	T	0.357964	0.08163	T	0.04395806	0.06944	0.059117828	0.11040	0.04395806	0.06944	0.059117828	0.11039	-2.163	0.03865	T	.	.	0.356	0.56978	A	.	.	1.452510	0.18737	13.90	0.61318576741591302	0.06679	0.06233	0.12222	N	AEFI	0.034264	0.04212	N	-0.644002368178195	0.17635	0.9091262	-0.743295799460967	0.15887	0.8377953	9.51251238247756E-6	0.01202	0.656854	0.48797	0	0.653731	0.59785	0	0.565031	0.19037	0	0.699908	0.69081	0	.	.	2.64	-0.833	0.10237	1.509000	0.35387	1.837000	0.29159	0.284000	0.18682	1.000000	0.71638	0.009000	0.19889	0.063000	0.16184	0.1431:0.5616:0.2953:0.0	6.110	0.19319	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	.	.	.	.	.	.	.	.	0.3684	3255.24	342	chr2	95855406	.	C	G	3255.24	.	AC=14;AF=0.368;AN=38;BaseQRankSum=0.246;DP=5290;ExcessHet=17.0548;FS=5.715;InbreedingCoeff=-0.5833;MLEAC=14;MLEAF=0.368;MQ=53.82;MQRankSum=-6.005;QD=0.86;ReadPosRankSum=-2.675;SOR=1.39	GT:AD:DP:GQ:PL	0/1:286,38:324:99:215,0,8116	5	0	14	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	60963.4	298	chr2	95855549	.	T	C	60963.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-4.128;DP=6596;ExcessHet=48.2876;FS=13.468;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=44.36;MQRankSum=-12.9;QD=9.49;ReadPosRankSum=0.896;SOR=1.314	GT:AD:DP:GQ:PL	0/1:213,189:402:99:4170,0,5727	0	0	19	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	.	.	.	.	.	.	.	.	0.5	48661.4	222	chr2	95855576	.	A	G	48661.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-3.413;DP=5637;ExcessHet=48.2876;FS=28.241;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=46.08;MQRankSum=-12.28;QD=8.91;ReadPosRankSum=-3.201;SOR=1.955	GT:AD:DP:GQ:PL	0/1:218,133:351:99:3530,0,6063	0	0	19	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	.	.	.	.	.	.	.	.	0.3421	5066.16	228	chr2	95855586	.	T	C	5066.16	.	AC=13;AF=0.342;AN=38;BaseQRankSum=0.521;DP=5385;ExcessHet=13.8672;FS=16.143;InbreedingCoeff=-0.5518;MLEAC=13;MLEAF=0.342;MQ=47.07;MQRankSum=-6.648;QD=1.42;ReadPosRankSum=-2.146;SOR=2.347	GT:AD:DP:GQ:PL	0/1:284,44:328:99:523,0,11092	6	0	13	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	.	.	.	.	.	.	.	.	0.5	36166.4	226	chr2	95855588	.	T	C	36166.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-3.66;DP=5339;ExcessHet=48.2876;FS=33.512;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=47.33;MQRankSum=-11.31;QD=6.95;ReadPosRankSum=-3.814;SOR=2.254	GT:AD:DP:GQ:PL	0/1:229,95:324:99:2499,0,6588	0	0	19	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	29493.3	133	chr2	95859969	.	A	AT	29493.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-1.426;DP=2924;ExcessHet=48.2876;FS=5.557;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=58.87;MQRankSum=-8.967;QD=10.26;ReadPosRankSum=0.47;SOR=0.821	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:98,41:139:99:0|1:95859969_A_AT:1427,0,3944:95859969	0	0	19	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	29433.3	135	chr2	95859970	.	G	T	29433.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-0.157;DP=2921;ExcessHet=48.2876;FS=5.557;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=58.87;MQRankSum=-9.055;QD=10.21;ReadPosRankSum=0.274;SOR=0.832	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:98,41:139:99:0|1:95859969_A_AT:1427,0,3944:95859969	0	0	19	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	29033.3	133	chr2	95859975	.	C	T	29033.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-0.208;DP=2893;ExcessHet=48.2876;FS=5.618;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=58.84;MQRankSum=-9;QD=10.11;ReadPosRankSum=0.168;SOR=0.908	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:100,42:142:99:0|1:95859969_A_AT:1463,0,3985:95859969	0	0	19	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	26746.3	132	chr2	95859988	.	T	C	26746.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=0.252;DP=2861;ExcessHet=48.2876;FS=6.76;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=58.72;MQRankSum=-8.913;QD=9.48;ReadPosRankSum=-0.496;SOR=1.161	GT:AD:DP:GQ:PL	0/1:100,36:136:99:1153,0,2531	0	0	19	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	18752.3	122	chr2	95860002	.	T	A	18752.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=1.06;DP=2730;ExcessHet=48.2876;FS=6.113;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=58.68;MQRankSum=-8.443;QD=6.95;ReadPosRankSum=-0.759;SOR=1.204	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:92,33:125:99:0|1:95860002_T_A:1074,0,3727:95860002	0	0	19	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	23267.3	119	chr2	95860007	.	A	T	23267.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=1.68;DP=2659;ExcessHet=48.2876;FS=7.204;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=58.65;MQRankSum=-8.406;QD=8.8;ReadPosRankSum=-1.07;SOR=1.213	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:90,31:121:99:0|1:95860002_T_A:1031,0,3675:95860002	0	0	19	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	20158.3	113	chr2	95860020	.	G	A	20158.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=0.619;DP=2471;ExcessHet=48.2876;FS=6.268;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=58.59;MQRankSum=-8.166;QD=8.31;ReadPosRankSum=-1.454;SOR=1.226	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:78,27:105:99:0|1:95860020_G_A:899,0,3194:95860020	0	0	19	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	.	.	.	.	.	.	.	.	0.5	19380.3	111	chr2	95860023	.	A	C	19380.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=1.39;DP=2404;ExcessHet=48.2876;FS=7.636;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=58.56;MQRankSum=-8.267;QD=8.09;ReadPosRankSum=-1.399;SOR=1.289	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:78,27:105:99:0|1:95860020_G_A:899,0,3194:95860020	0	0	19	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	11904.3	89	chr2	95860046	.	C	A	11904.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=0.751;DP=1934;ExcessHet=48.2876;FS=11.691;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=58.24;MQRankSum=-9.124;QD=6.3;ReadPosRankSum=-0.315;SOR=1.619	GT:AD:DP:GQ:PL	0/1:65,19:84:99:603,0,1878	0	0	19	0
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	18862.3	164	chr2	95927222	.	G	GAT	18862.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=2.6;DP=3163;ExcessHet=48.2876;FS=34.38;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=54.61;MQRankSum=-10.17;QD=6.03;ReadPosRankSum=-5.284;SOR=3.306	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:164,42:206:99:0|1:95927222_G_GAT:1270,0,6758:95927222	0	0	19	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	26377.3	184	chr2	95927226	.	GTT	G	26377.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=2.39;DP=3487;ExcessHet=48.2876;FS=11.32;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=54.52;MQRankSum=-10.76;QD=7.59;ReadPosRankSum=-5.284;SOR=1.618	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:168,52:220:99:0|1:95927222_G_GAT:1678,0,6896:95927222	0	0	19	0
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	35910.4	215	chr2	95927234	.	T	C	35910.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-1.871;DP=3849;ExcessHet=48.2876;FS=7.304;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=54.28;MQRankSum=-11.77;QD=9.36;ReadPosRankSum=-6.004;SOR=1.205	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:175,66:241:99:0|1:95927222_G_GAT:2245,0,7150:95927222	0	0	19	0
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	63959.4	272	chr2	95927252	.	A	G	63959.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-1.312;DP=4936;ExcessHet=48.2876;FS=0;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=53.51;MQRankSum=-14.02;QD=13;ReadPosRankSum=-5.496;SOR=0.719	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:197,114:311:99:0|1:95927222_G_GAT:4194,0,7929:95927222	0	0	19	0
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	87835.4	322	chr2	95927268	.	C	A	87835.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-5.958;DP=5895;ExcessHet=48.2876;FS=3.314;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=52.8;MQRankSum=-15.82;QD=14.94;ReadPosRankSum=-3.622;SOR=0.489	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:223,152:375:99:0|1:95927222_G_GAT:5630,0,8878:95927222	0	0	19	0
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	89248.4	328	chr2	95927277	.	C	T	89248.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-6.782;DP=6158;ExcessHet=48.2876;FS=4.127;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=52.73;MQRankSum=-16.01;QD=14.73;ReadPosRankSum=-1.494;SOR=0.465	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:223,159:382:99:0|1:95927222_G_GAT:5782,0,8806:95927222	0	0	19	0
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	39801.4	216	chr2	95929092	.	T	C	39801.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=0.974;DP=3809;ExcessHet=48.2876;FS=9.792;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=47.28;MQRankSum=-9.617;QD=10.54;ReadPosRankSum=-3.918;SOR=1.353	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:135,50:185:99:0|1:95929092_T_C:1600,0,5469:95929092	0	0	19	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	49331.4	246	chr2	95929110	.	A	G	49331.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=8.94;DP=4414;ExcessHet=48.2876;FS=9.734;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=45.28;MQRankSum=-9.563;QD=11.19;ReadPosRankSum=-2.139;SOR=1.456	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:164,59:223:99:0|1:95929092_T_C:1984,0,6709:95929092	0	0	19	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	66098.4	287	chr2	95929126	.	C	A	66098.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=3.33;DP=5158;ExcessHet=48.2876;FS=18.99;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=44.08;MQRankSum=-9.946;QD=12.83;ReadPosRankSum=-1.47;SOR=1.817	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:175,73:248:99:0|1:95929092_T_C:2538,0,7128:95929092	0	0	19	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	71010.4	295	chr2	95929130	.	G	C	71010.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=6.88;DP=5365;ExcessHet=48.2876;FS=20.95;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=43.69;MQRankSum=-9.89;QD=13.27;ReadPosRankSum=-1.093;SOR=1.897	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:182,76:258:99:0|1:95929092_T_C:2643,0,7413:95929092	0	0	19	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	74075.4	304	chr2	95929135	.	C	T	74075.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=6.95;DP=5621;ExcessHet=48.2876;FS=22.763;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=43.18;MQRankSum=-9.69;QD=13.51;ReadPosRankSum=-1.078;SOR=1.932	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:187,82:269:99:0|1:95929092_T_C:2857,0,7536:95929092	0	0	19	0
chr2	95935472	95935472	A	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon24:c.T1717C:p.S573P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.177	0.00527153839806	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.45039	D	0.004	0.74150	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.12	0.77593	T	-1.12	0.28906	N	0.175	0.18784	-0.9044	0.47515	T	0.225	0.58957	T	6	0.090824604	0.15857	T	0.005272	0.13464	T	0.177	0.44549	0.26	0.20315	0.303453137403	0.29957	0.0025964046087465953	0.00241	.	.	.	.	.	0.008067	0.07427	T	-0.141922	0.29583	T	-0.441637	0.28624	T	0.039472528729692	0.03595	T	0.268373	0.04464	T	0.13172004	0.30693	0.07496957	0.16457	0.13172004	0.30693	0.07496957	0.16457	-4.435	0.30028	T	.	.	0.196	0.48156	B	.;.	.;.	0.902052	0.12763	9.279	0.84518185438774429	0.15338	0.00147	0.00892	N	AEFGI	0.051239	0.09033	N	-0.976929361326503	0.09098	0.4292066	-1.22904852238101	0.05448	0.2596297	7.79519956303825E-5	0.04552	0.615465	0.37627	0	0.633656	0.55848	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	0.967	-1.93	0.07180	-2.368000	0.01156	-4.076000	0.02356	0.358000	0.20042	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.3254:0.4164:0.0:0.2581	1.787	0.02859	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	.	.	.	.	.	.	.	.	0.02632	70.34	41	chr2	95935472	.	A	G	70.34	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.161;DP=742;ExcessHet=0;FS=28.792;InbreedingCoeff=-0.0273;MLEAC=1;MLEAF=0.026;MQ=38.93;MQRankSum=0.895;QD=1.02;ReadPosRankSum=1.31;SOR=4.716	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:60,9:69:84:0|1:95935472_A_G:84,0,2304:95935472	18	0	1	0
chr2	96289939	96289939	T	C	exonic	SNRNP200	.	nonsynonymous SNV	SNRNP200:NM_014014:exon21:c.A2800G:p.T934A	Retinitis pigmentosa 33, Autosomal dominant	0	1491	27	4	0	35	0.0116009	.	.	YES	176954	Retinitis_pigmentosa_33|Retinal_dystrophy|not_specified|not_provided|Retinitis_pigmentosa	MONDO:MONDO:0012477,MedGen:C1835895,OMIM:610359,Orphanet:791|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|MedGen:CN169374|MedGen:C3661900|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.165	.	0.0002	0.00439297	0.0030	0.0002	0.0003	0	0	0.0006	0.0022	0.0196	0.0026584	411	154602	rs149616320	0.0014	0.0014	0.0009	0.0019	0.0166	0.0014	0.0013	0.0159	0.0156	8.961e-05	0.0003	0	0	1.872e-05	0.0047	0.0004	0.0015	0.0166	0.0010	0.0010	0.0008	0.0011	0.0166	0.0008	0.0008	0.0137	0.0126	0.0002	0	0.0002	0	0.0002	0	0.0034	0.0007	0.0014	0.0166	0.928	0.02262	T	0.834	0.03674	T	0.003	0.11197	B	0.001	0.04355	B	0.000001	0.62929	D	0.055481	0.999988	0.81001	D	0.63	0.15941	N	-0.25	0.67011	T	-1.47	0.35991	N	0.184	0.19995	-0.9045	0.47504	T	0.163	0.49963	T	10	0.010088056	0.00226	T	.	.	.	0.165	0.42395	.	.	0.436739265542	0.43292	0.5706196549623248	0.56989	0.94614905809	0.72416	0.64514040947	0.59295	T	0.226826	0.59195	T	-0.382492	0.03005	T	-0.30792	0.43882	T	0.0235686665673508	0.01092	T	0.781022	0.41604	T	0.32588062	0.55131	0.2603615	0.51798	0.32588062	0.55131	0.2603615	0.51797	-7.187	0.55388	T	0.1834308797246747	0.23745	0.067	0.02609	B	.	.	3.030621	0.40590	21.2	0.67612076650963937	0.08406	0.93456	0.58265	D	AEFDBCI	0.428187	0.49182	N	-0.252644075754081	0.30998	1.73384	-0.0173378992172096	0.38931	2.300858	0.999995431897257	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.77	5.77	0.91077	2.233000	0.42672	4.134000	0.42048	0.665000	0.62972	0.988000	0.36536	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	15.070	0.71702	291	0.88420	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005035	0.000000	0.001359	0.002924	0.100000	0.000000	0.003049	0.018939	0.02632	1783.33	33	chr2	96289939	.	T	C	1783.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.426;DP=776;ExcessHet=0;FS=5.433;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.82;ReadPosRankSum=-1.357;SOR=1.008	GT:AD:DP:GQ:PL	0/1:57,72:129:99:1797,0,1419	18	0	1	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4474	9025.83	153	chr2	97185336	.	GC	G	9025.83	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-1.382;DP=2743;ExcessHet=31.086;FS=1.658;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=47.08;MQRankSum=-6.249;QD=3.62;ReadPosRankSum=0.503;SOR=0.504	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:127,32:159:99:0|1:97185336_GC_G:961,0,5236:97185336	2	0	17	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	.	.	.	.	.	.	.	.	0.4474	8913.86	155	chr2	97185340	.	C	G	8913.86	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-1.075;DP=2782;ExcessHet=31.086;FS=1.696;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=46.92;MQRankSum=-5.789;QD=3.53;ReadPosRankSum=0.964;SOR=0.511	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:130,32:162:99:0|1:97185336_GC_G:952,0,5362:97185336	2	0	17	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4474	8891.83	152	chr2	97185341	.	A	AG	8891.83	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-1.346;DP=2792;ExcessHet=31.086;FS=1.696;InbreedingCoeff=-0.8096;MLEAC=17;MLEAF=0.447;MQ=46.81;MQRankSum=-5.722;QD=3.51;ReadPosRankSum=1.18;SOR=0.517	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:130,32:162:99:0|1:97185336_GC_G:952,0,5362:97185336	2	0	17	0
chr2	97185346	97185349	TAAT	-	splicing	ANKRD36	.	.	.	.	500	739	281	2	0	285	0.161656	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1368364794	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4474	8743.83	157	chr2	97185345	.	GTAAT	G	8743.83	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-1.208;DP=2918;ExcessHet=31.086;FS=1.743;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=46.15;MQRankSum=-5.332;QD=3.29;ReadPosRankSum=2.28;SOR=0.508	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:140,33:173:99:0|1:97185336_GC_G:964,0,5779:97185336	2	0	17	0
chr2	97243982	97243982	A	G	exonic	ANKRD36	.	nonsynonymous SNV	ANKRD36:NM_001354587:exon70:c.A4444G:p.K1482E	.	594	783	141	4	0	149	0.0868805	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.000813122360056	.	.	.	.	.	.	.	.	.	.	.	.	.	rs879765967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.647	0.06812	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	1.445	0.36358	L	2.27	0.17431	T	-1.46	0.35792	N	0.191	0.20925	-1.0431	0.16383	T	0.055	0.23375	T	9	0.088907	0.15351	T	8.13E-4	0.00649	T	0.034	0.08419	.	.	0.0482279557977	0.04254	.	.	.	.	0.827668607235	0.86205	D	0.021647	0.16823	T	-0.288376	0.09799	T	-0.652008	0.08814	T	0.0863367564439753	0.10777	T	0.369363	0.08678	T	0.08514416	0.19738	0.10756626	0.25897	0.08514416	0.19737	0.10756626	0.25896	.	.	.	.	.	0.159	0.35183	B	.;.	.;.	0.562033	0.09308	6.087	0.3763639411248757	0.02492	0.01858	0.05739	N	AEFI	0.031364	0.03344	N	-1.15756630415575	0.05656	0.2584313	-1.32943360964929	0.04054	0.1904441	1.15881377853183E-6	0.01202	0.706298	0.61202	0	0.709663	0.81188	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	1.4	0.142	0.14111	0.033000	0.13642	-8.971000	0.00886	-0.471000	0.05090	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	0.8106:0.0:0.1894:0.0	4.893	0.13094	198	0.92335	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2895	3701.21	121	chr2	97243982	.	A	G	3701.21	.	AC=11;AF=0.289;AN=38;BaseQRankSum=0.663;DP=1984;ExcessHet=8.9063;FS=10.685;InbreedingCoeff=-0.4074;MLEAC=11;MLEAF=0.289;MQ=38.55;MQRankSum=-3.708;QD=2.45;ReadPosRankSum=-0.591;SOR=1.166	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:150,16:166:99:0|1:97243981_C_T:220,0,6250:97243981	8	0	11	0
chr2	97243989	97243989	C	T	exonic	ANKRD36	.	nonsynonymous SNV	ANKRD36:NM_001354587:exon70:c.C4451T:p.A1484V	.	603	769	146	4	0	154	0.0910165	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.00106584311882	.	.	4.541e-05	0	0	0	0	0	0	0.0003	3.84e-05	1	26028	rs879638068	2.069e-06	1.163e-05	2.744e-06	1.387e-06	3.54e-05	5.5e-07	1.5e-07	9.4e-06	4.61e-06	0	0	0	0	0	0	0	0	3.54e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.213	0.19430	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0	0.06538	N	2.35	0.16217	T	1.55	0.00694	N	0.16	0.16725	-1.0012	0.29574	T	0.013	0.05129	T	9	0.043822676	0.03272	T	0.001066	0.01215	T	0.009	0.00846	.	.	0.0138822411134	0.00435	.	.	.	.	0.738302230835	0.72722	T	0.006193	0.05627	T	-0.286201	0.10021	T	-0.648885	0.09033	T	0.0436484596629869	0.04357	T	0.352565	0.07917	T	0.018949645	0.00419	0.03829343	0.03666	0.018949645	0.00418	0.03829343	0.03665	.	.	.	.	.	0.116	0.23255	B	.;.	.;.	0.661907	0.10304	7.035	0.93505387120157391	0.23315	0.00023	0.00238	N	AEFI	0.010700	0.00081	N	-1.46380150830159	0.02111	0.09285368	-1.52457588063721	0.02156	0.09874057	1.16333637191878E-6	0.01202	0.706298	0.61202	0	0.709663	0.81188	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	1.4	-0.226	0.12460	0.981000	0.29124	-0.502000	0.08796	-1.926000	0.00503	0.002000	0.15269	0.000000	0.08366	0.000000	0.00833	0.0:0.1981:0.0:0.8019	4.757	0.12464	198	0.92335	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3158	4295.86	115	chr2	97243989	.	C	T	4295.86	.	AC=12;AF=0.316;AN=38;BaseQRankSum=-1.133;DP=2005;ExcessHet=11.1788;FS=8.896;InbreedingCoeff=-0.4602;MLEAC=12;MLEAF=0.316;MQ=38.19;MQRankSum=-3.269;QD=2.7;ReadPosRankSum=0.333;SOR=0.877	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:135,16:151:99:0|1:97243981_C_T:265,0,5620:97243981	7	0	12	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	0.5263	64897.0	159	chr2	97513220	.	G	A	64897.0	.	AC=20;AF=0.526;AN=38;BaseQRankSum=-0.096;DP=3961;ExcessHet=38.2876;FS=4.24;InbreedingCoeff=-0.9;MLEAC=20;MLEAF=0.526;MQ=36.14;MQRankSum=-3.677;QD=16.4;ReadPosRankSum=0.819;SOR=1.012	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:116,104:220:99:0|1:97513219_T_C:4018,0,4552:97513219	0	1	18	0
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	0.5263	68935.0	164	chr2	97513227	.	T	C	68935.0	.	AC=20;AF=0.526;AN=38;BaseQRankSum=0.29;DP=4239;ExcessHet=38.2876;FS=3.338;InbreedingCoeff=-0.9;MLEAC=20;MLEAF=0.526;MQ=36.44;MQRankSum=-4.04;QD=16.5;ReadPosRankSum=0.983;SOR=0.999	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:120,108:228:99:0|1:97513219_T_C:4164,0,4676:97513219	0	1	18	0
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	.	.	.	.	.	.	.	.	0.5263	84738.0	186	chr2	97513244	.	G	T	84738.0	.	AC=20;AF=0.526;AN=38;BaseQRankSum=-0.875;DP=4777;ExcessHet=38.2876;FS=3.221;InbreedingCoeff=-0.9;MLEAC=20;MLEAF=0.526;MQ=36.9;MQRankSum=-3.997;QD=17.8;ReadPosRankSum=0.056;SOR=0.933	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:128,138:266:99:0|1:97513244_G_T:5409,0,4899:97513244	0	1	18	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	0.5263	90004.0	197	chr2	97513253	.	A	G	90004.0	.	AC=20;AF=0.526;AN=38;BaseQRankSum=-2.442;DP=4968;ExcessHet=38.2876;FS=3.203;InbreedingCoeff=-0.9;MLEAC=20;MLEAF=0.526;MQ=36.95;MQRankSum=-3.978;QD=18.26;ReadPosRankSum=-0.22;SOR=0.922	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:132,146:278:99:0|1:97513244_G_T:5733,0,5063:97513244	0	1	18	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	0.5263	90016.0	197	chr2	97513254	.	C	T	90016.0	.	AC=20;AF=0.526;AN=38;BaseQRankSum=-2.225;DP=4978;ExcessHet=38.2876;FS=3.233;InbreedingCoeff=-0.9;MLEAC=20;MLEAF=0.526;MQ=36.95;MQRankSum=-3.978;QD=18.28;ReadPosRankSum=-0.275;SOR=0.922	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:132,146:278:99:0|1:97513244_G_T:5733,0,5063:97513244	0	1	18	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	0.5263	97631.0	207	chr2	97513268	.	C	T	97631.0	.	AC=20;AF=0.526;AN=38;BaseQRankSum=-0.519;DP=5204;ExcessHet=38.2876;FS=2.457;InbreedingCoeff=-0.9;MLEAC=20;MLEAF=0.526;MQ=37.34;MQRankSum=-4.276;QD=18.86;ReadPosRankSum=0.097;SOR=0.904	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:138,153:291:99:0|1:97513268_C_T:5948,0,5299:97513268	0	1	18	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	0.5263	95844.0	211	chr2	97513270	.	A	C	95844.0	.	AC=20;AF=0.526;AN=38;BaseQRankSum=-0.821;DP=5239;ExcessHet=38.2876;FS=2.439;InbreedingCoeff=-0.9;MLEAC=20;MLEAF=0.526;MQ=37.42;MQRankSum=-4.193;QD=18.3;ReadPosRankSum=-0.308;SOR=0.89	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:138,155:293:99:0|1:97513268_C_T:6007,0,5293:97513268	0	1	18	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	0.5263	98710.0	209	chr2	97513271	.	T	C	98710.0	.	AC=20;AF=0.526;AN=38;BaseQRankSum=-1.177;DP=5239;ExcessHet=38.2876;FS=2.439;InbreedingCoeff=-0.9;MLEAC=20;MLEAF=0.526;MQ=37.46;MQRankSum=-4.272;QD=18.84;ReadPosRankSum=-0.525;SOR=0.894	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:138,153:291:99:0|1:97513268_C_T:5964,0,5299:97513268	0	1	18	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	0.5263	99301.0	210	chr2	97513281	.	C	T	99301.0	.	AC=20;AF=0.526;AN=38;BaseQRankSum=-0.601;DP=5349;ExcessHet=38.2876;FS=2.432;InbreedingCoeff=-0.9;MLEAC=20;MLEAF=0.526;MQ=37.86;MQRankSum=-4.794;QD=18.72;ReadPosRankSum=-0.367;SOR=0.843	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:137,152:289:99:0|1:97513268_C_T:5854,0,5254:97513268	0	1	18	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	23586.3	111	chr2	97513354	.	T	C	23586.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=1.38;DP=3107;ExcessHet=48.2876;FS=1.966;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=39.22;MQRankSum=-3.517;QD=7.83;ReadPosRankSum=0.701;SOR=0.53	GT:AD:DP:GQ:PL	0/1:96,67:163:99:1505,0,2289	0	0	19	0
chr2	99439110	99439110	G	A	exonic	REV1	.	nonsynonymous SNV	REV1:NM_001037872:exon6:c.C704T:p.A235V,REV1:NM_001321454:exon6:c.C704T:p.A235V,REV1:NM_016316:exon6:c.C704T:p.A235V,REV1:NM_001321455:exon7:c.C494T:p.A165V	.	436	1084	2	0	0	2	0.000921659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.295	0.0495309120588	.	.	1.651e-05	0	0	0	0	1.501e-05	0	6.079e-05	1.29e-05	2	154602	rs774470983	1.437e-05	1.436e-05	1.633e-05	1.238e-05	0.0003	9.23e-06	7.84e-06	6.096e-05	2.522e-05	0	0	0	0	0	0.0003	9.892e-06	3.311e-05	6.957e-05	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	0.0	0.91255	D	0.189	0.28860	T	1.0	0.90584	D	0.999	0.92359	D	0.000002	0.62929	D	0.105651	1	0.81001	D	2.6	0.76081	M	0.97	0.42502	T	-1.57	0.37955	N	0.602	0.78072	-0.7410	0.58401	T	0.260	0.63033	T	10	0.56802154	0.65161	D	0.049531	0.63854	D	0.295	0.61502	0.364	0.37036	0.572958119198	0.56962	0.4858266309938118	0.48502	0.523815387963	0.50087	0.48337906599	0.36521	T	0.032179	0.22374	T	-0.0328595	0.47001	T	-0.081377	0.64803	T	0.766411662101746	0.44225	D	0.942106	0.78341	D	0.45902416	0.64610	0.43679282	0.67120	0.45902416	0.64610	0.43679282	0.67120	-3.031	0.10519	T	.	.	0.396	0.59341	A	.;.	.;.	4.777689	0.77400	26.7	0.99915819374672643	0.98379	0.99729	0.99021	D	AEFDBI	0.884618	0.81445	D	0.806102418196647	0.86486	8.901089	0.799295274465404	0.89745	10.10293	0.99999999985898	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.658105	0.52812	0	0.714379	0.83352	0	.	.	5.54	5.54	0.82907	8.011000	0.88184	11.897000	0.99249	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.495	0.95059	384	0.83545	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1407.33	48	chr2	99439110	.	G	A	1407.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.022;DP=829;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.35;ReadPosRankSum=1.3;SOR=0.644	GT:AD:DP:GQ:PL	0/1:59,55:114:99:1421,0,1469	18	0	1	0
chr2	106813156	106813156	A	G	exonic	ST6GAL2	.	nonsynonymous SNV	ST6GAL2:NM_001142352:exon6:c.T1387C:p.W463R	.	477	1038	7	0	0	7	0.00336054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	.	0.0044	0.000798722	0.0067	0.0008	0	0	0.0010	0.0081	0	0.0151	0.0009444	146	154602	rs200605446	0.0059	0.0051	0.0061	0.0058	0.0068	0.0058	0.0058	0.0067	0.0066	0.0008	0.0009	0	0	0.0004	0.0017	0.0068	0.0039	0.0022	0.0033	0.0033	0.0036	0.0031	0.0056	0.0031	0.0030	0.0051	0.0049	0.0011	0.0122	0.0033	0	0	0.0001	0.0035	0.0056	0.0034	0.0019	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.54	0.30133	T	5.5	0.00015	N	0.303	0.34228	-1.0067	0.27943	T	0.055	0.23148	T	4	0.005378127	0.00118	T	.	.	.	0.042	0.11227	0.414	0.45216	0.183819452728	0.17975	.	.	.	.	.	.	.	.	.	.	-0.629577	0.00096	T	-0.669159	0.07662	T	0.0427707527022904	0.04196	T	0.152985	0.01314	T	.	.	.	.	.	.	.	.	-2.445	0.05416	T	.	.	0.189	0.40683	B	.	.	0.298370	0.06740	3.255	0.38758578689221168	0.02633	0.05170	0.10987	N	AEFI	0.026739	0.02061	N	-0.671035362527751	0.16851	0.8621118	-0.907709831414495	0.11912	0.6097471	0.00438912569728279	0.10527	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	.	.	.	0.820000	0.26979	.	.	0.187000	0.17834	0.327000	0.25564	.	.	0.049000	0.15107	.	.	.	860	0.33753	.	.	.	.	.	.	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	0.001420	0.000000	0.000000	0.000000	0.000000	0.000000	0.006757	0.000000	0.02632	1323.33	60	chr2	106813156	.	A	G	1323.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.131;DP=1300;ExcessHet=0;FS=1.569;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.96;MQRankSum=-0.967;QD=10.85;ReadPosRankSum=-0.809;SOR=0.905	GT:AD:DP:GQ:PL	0/1:60,62:122:99:1337,0,1593	18	0	1	0
chr2	108247205	108247205	T	C	exonic	SULT1C3	.	nonsynonymous SNV	SULT1C3:NM_001008743:exon2:c.T11C:p.I4T,SULT1C3:NM_001320878:exon2:c.T11C:p.I4T	.	439	1060	21	2	0	25	0.011655	.	.	.	2215923	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.023	0.00154417805914	0.0019	0.000599042	0.0014	0.0002	0.0008	0	0	0.0018	0	0.0022	0.001423	220	154602	rs145344319	0.0018	0.0018	0.0017	0.0018	0.0041	0.0017	0.0017	0.0027	0.0023	0.0003	0.0014	0.0022	5.329e-05	7.859e-05	0.0041	0.0019	0.0025	0.0021	0.0012	0.0012	0.0012	0.0012	0.0029	0.0011	0.0010	0.0018	0.0015	0.0005	0	0.0008	0.0009	0	0	0.0034	0.0019	0.0024	0.0029	0.251	0.17069	T	0.34	0.18018	T	0.0	0.02946	B	0.0	0.01387	B	0.001889	0.00837	N	13.828700	1	0.08975	N	0	0.06538	N	4.78	0.01551	T	-0.4	0.13805	N	0.037	0.01135	-0.9156	0.46142	T	0.003	0.01059	T	10	0.0070406795	0.00160	T	0.001544	0.02420	T	0.023	0.04649	.	.	0.146414634003	0.14194	0.2950949393018245	0.29422	0.0705022220903	0.07900	0.46228787303	0.33624	T	0.001542	0.00986	T	-0.694049	0.00040	T	-0.774657	0.02618	T	0.00395966875437523	0.00042	T	0.328667	0.06851	T	0.030933708	0.02843	0.038975026	0.03885	0.030933708	0.02842	0.038975026	0.03885	-2.529	0.05983	T	.	.	0.061	0.01059	B	.	.	-0.881287	0.00957	0.037	0.49644701866555579	0.04246	0.00727	0.03054	N	AEFBI	0.041655	0.06360	N	-1.97817681628281	0.00236	0.01009899	-2.05030213229017	0.00239	0.01052244	1.60551189643201E-4	0.05650	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.69	-5.38	0.02465	-0.421000	0.07118	-0.041000	0.12668	-2.054000	0.00416	0.028000	0.20300	0.002000	0.18203	0.000000	0.00833	0.4973:0.2377:0.0:0.265	3.181	0.06192	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	0.004028	0.000000	0.001359	0.002924	0.000000	0.008621	0.012195	0.003788	0.02632	846.33	28	chr2	108247205	.	T	C	846.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.161;DP=821;ExcessHet=0;FS=1.109;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.02;ReadPosRankSum=0.663;SOR=0.465	GT:AD:DP:GQ:PL	0/1:32,33:65:99:860,0,871	18	0	1	0
chr2	108259015	108259015	G	0	exonic	SULT1C3	.	.	.	.	441	128	465	180	308	1133	0.763182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	20118.8	247	chr2	108259015	.	G	*	20118.8	.	AC=15;AF=0.417;AN=36;BaseQRankSum=0.946;DP=3585;ExcessHet=3.336;FS=0;InbreedingCoeff=-0.1382;MLEAC=16;MLEAF=0.444;MQ=60;MQRankSum=0;QD=6.39;ReadPosRankSum=0.017;SOR=0.676	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:157,104:261:99:.:.:3878,0,6275:.	6	3	9	1
chr2	108768038	108768038	C	T	exonic	RANBP2	.	nonsynonymous SNV	RANBP2:NM_006267:exon20:c.C7499T:p.T2500I	.	135	1363	23	1	0	25	0.0090876	.	.	.	365495	not_specified|Familial_acute_necrotizing_encephalopathy|not_provided	MedGen:CN169374|MONDO:MONDO:0011953,MedGen:C2675556,OMIM:608033,Orphanet:88619|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.067	0.00856227742663	0.0015	0.00139776	0.0027	0.0003	0.0008	0	0	0.0029	0.0066	0.0070	0.0023221	359	154602	rs140280672	0.0016	0.0016	0.0014	0.0019	0.0121	0.0016	0.0016	0.0094	0.0085	0.0003	0.0007	0.0272	0	0	0.0121	0.0007	0.0030	0.0072	0.0013	0.0013	0.0012	0.0014	0.0071	0.0012	0.0011	0.0052	0.0046	0.0001	0	0.0003	0.0274	0	9.432e-05	0.0068	0.0008	0.0024	0.0071	0.04	0.42199	D	0.001	0.83351	D	0.055	0.22733	B	0.008	0.13708	B	.	.	.	.	0.984944	0.24755	N	2.24	0.63355	M	1.52	0.30669	T	-2.97	0.61865	D	0.164	0.17278	-1.0426	0.16532	T	0.078	0.31133	T	9	0.0037479103	0.00070	T	0.008562	0.22631	T	0.067	0.19503	.	.	0.271610670623	0.26767	0.2872351489239603	0.28636	0.453889941167	0.45073	0.377137988806	0.21850	T	0.643506	0.89096	D	-0.576731	0.00202	T	-0.597065	0.13059	T	0.0382993759863325	0.03386	T	0.868313	0.57032	D	0.14970307	0.34116	0.14868432	0.35137	0.14970307	0.34116	0.14868432	0.35136	-5.028	0.37143	T	0.2951649030215336	0.39209	0.117	0.23605	B	.	.	2.581300	0.33471	19.35	0.99795765758653443	0.88106	0.35455	0.25306	N	AEFDBI	0.166553	0.29315	N	-0.350681026129678	0.27247	1.493391	-0.265479786162202	0.29244	1.636846	0.99999933746556	0.74766	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.711	0.71501	0	.	.	5.61	3.81	0.43020	1.606000	0.36437	2.245000	0.31642	0.549000	0.26987	0.010000	0.18352	0.010000	0.20010	0.998000	0.85391	0.0:0.8613:0.0:0.1387	12.135	0.53269	853	0.34956	.	.	.	.	.	.	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	0.012005	0.007937	0.009589	0.021930	0.000000	0.035714	0.000000	0.004202	0.02632	4996.33	40	chr2	108768038	.	C	T	4996.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.816;DP=1058;ExcessHet=0;FS=0.772;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=56.68;MQRankSum=1.46;QD=13.18;ReadPosRankSum=0.191;SOR=0.649	GT:AD:DP:GQ:PL	0/1:182,197:379:99:5010,0,4982	18	0	1	0
chr2	109553086	109553086	C	G	splicing	SEPTIN10	NM_001321507:exon7:c.762+1G>C;NM_001321510:exon6:c.660+1G>C;NM_001321499:exon6:c.660+1G>C;NM_001321511:exon5:c.591+1G>C;NM_001321509:exon9:c.1035+1G>C;NM_178584:exon8:c.1092+1G>C;NM_144710:exon9:c.1161+1G>C;NM_001321506:exon5:c.591+1G>C;NM_001321496:exon7:c.762+1G>C;NM_001321505:exon6:c.582+1G>C;NM_001321513:exon9:c.1134+1G>C;NM_001321515:exon8:c.1065+1G>C;NM_001321514:exon9:c.1116+1G>C;NM_001321500:exon8:c.1092+1G>C;NM_001321504:exon6:c.582+1G>C;NM_001321512:exon9:c.1161+1G>C;NM_001321498:exon9:c.1161+1G>C;NM_001321501:exon9:c.1035+1G>C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.557e-06	0.0002	9.571e-06	5.523e-06	9.017e-06	4.06e-06	2.96e-06	4.56e-06	3.32e-06	0	0	0	0	0	0	9.017e-06	1.664e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.348181	0.86382	D	0.262362	0.86203	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.	.;.;.;.;.	5.054848	0.84220	28.3	0.99516967320173511	0.68979	0.99561	0.97457	D	AEFBI	.	.	.	1.01798668413956	0.96272	14.49747	0.833271238848173	0.92001	11.18292	0.999999995839285	0.74766	0.162113	0.03585	0	0.18701	0.04157	0	0.231514	0.04749	0	0.221052	0.04502	0	0.966943	0.69625	4.78	4.78	0.60666	7.533000	0.80893	5.950000	0.51632	0.545000	0.25583	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.0:1.0:0.0:0.0	17.406	0.87364	808	0.43318	.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.03846	32.19	34	chr2	109553086	.	C	G	32.19	.	AC=1;AF=0.038;AN=26;BaseQRankSum=-1.75;DP=983;ExcessHet=0;FS=49.721;InbreedingCoeff=-0.1232;MLEAC=1;MLEAF=0.038;MQ=60;MQRankSum=0;QD=0.4;ReadPosRankSum=-0.438;SOR=4.797	GT:AD:DP:GQ:PL	0/1:71,10:81:43:43,0,2102	12	0	1	6
chr2	127590174	127590174	A	G	exonic	MYO7B	.	nonsynonymous SNV	MYO7B:NM_001080527:exon16:c.A1937G:p.N646S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.223	0.0269645229081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.926	0.02274	T	1.0	0.01155	T	0.001	0.07471	B	0.003	0.08700	B	0.671191	0.06037	N	1.167850	1	0.08975	N	-0.665	0.02058	N	-2.08	0.86010	D	0.84	0.01761	N	0.05	0.02179	-0.6824	0.61261	T	0.244	0.61319	T	10	0.022657692	0.00571	T	0.026965	0.49829	D	0.223	0.52023	0.343	0.33626	0.186928172975	0.18263	0.22733391698649666	0.22648	0.0652916421919	0.07291	0.251021236181	0.03876	T	0.052491	0.29175	T	-0.227195	0.17020	T	-0.564126	0.15992	T	0.9481001496315	0.62821	D	0.857714	0.54741	D	0.04073073	0.05870	0.036532417	0.03119	0.04073073	0.05869	0.036532417	0.03119	-1.692	0.02208	T	.	.	0.057	0.00543	B	.;.	.;.	-0.081766	0.03751	0.779	0.42021263251809748	0.03070	0.04854	0.10589	N	AEFDBI	0.126084	0.24287	N	-1.44255579062194	0.02276	0.1003282	-1.39353947473681	0.03320	0.1546485	0.999448599506702	0.39736	0.638212	0.43195	0	0.670034	0.63936	0	0.547309	0.15389	0	0.562822	0.20929	0	.	.	5.39	-6.41	0.01766	-0.977000	0.03892	0.006000	0.13366	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.999000	0.91618	0.2389:0.2245:0.5366:0.0	10.998	0.46800	958	0.09170	Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class VII myosin, motor domain;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class VII myosin, motor 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	.	.	.	.	.	.	.	.	0.02632	1200.33	33	chr2	127590174	.	A	G	1200.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.14;DP=732;ExcessHet=0;FS=0.75;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12;ReadPosRankSum=0.776;SOR=0.859	GT:AD:DP:GQ:PL	0/1:50,50:100:99:1214,0,1128	18	0	1	0
chr2	127635740	127635740	C	T	exonic	MYO7B	.	nonsynonymous SNV	MYO7B:NM_001080527:exon43:c.C5761T:p.R1921C	.	420	1093	9	0	0	9	0.00410023	.	.	.	3208217	MYO7B-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.723	.	.	0.0061901	0.0057	0.0002	0	0	0	7.835e-05	0.0060	0.0352	0.00326	504	154602	rs376214274	0.0017	0.0017	0.0009	0.0024	0.0267	0.0016	0.0016	0.0258	0.0254	0.0002	2.296e-05	0	0	0	0.0017	6.863e-05	0.0013	0.0267	0.0009	0.0009	0.0005	0.0014	0.0284	0.0008	0.0008	0.0245	0.0230	0.0001	0	0	0	0	0	0	0	0	0.0284	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	0.999978	0.58761	D	2.965	0.85198	M	-1.25	0.79072	T	-7.04	0.94647	D	0.638	0.71143	0.453	0.89882	D	0.655	0.88008	D	10	0.014722198	0.00309	T	.	.	.	0.723	0.90235	.	.	0.901322659266	0.90034	0.5962163036213441	0.59551	0.518546932681	0.49708	0.696794033051	0.66681	T	0.206987	0.77226	T	-0.153265	0.27801	T	0.0273416	0.72105	D	0.175365895533775	0.18937	T	0.985868	0.98679	D	0.74615586	0.80646	0.73086077	0.84097	0.74615586	0.80647	0.73086077	0.84098	-10.462	0.76628	D	.	.	0.259	0.49383	B	.;.;.	.;.;.	5.689968	0.93051	33	0.99933388570630655	0.99488	0.89556	0.50095	D	AEFBI	0.848652	0.76547	D	0.740228777511065	0.82269	7.720655	0.676939425967568	0.80632	7.341958	0.999993485981864	0.74766	0.615465	0.37627	0	0.633656	0.55848	0	0.578056	0.29568	0	0.604944	0.38103	0	.	.	5.43	4.5	0.54382	2.827000	0.47813	5.835000	0.50197	0.579000	0.29447	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.228:0.7719:0.0:0.0	14.328	0.66091	946	0.12043	FERM central domain|FERM domain|Band 4.1 domain|FERM central domain;FERM central domain|FERM domain|Band 4.1 domain|FERM central domain;FERM central domain|FERM domain|Band 4.1 domain|FERM central 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	0.004028	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.022727	0.02632	856.33	39	chr2	127635740	.	C	T	856.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.431;DP=771;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.06;ReadPosRankSum=-1.004;SOR=0.79	GT:AD:DP:GQ:PL	0/1:33,38:71:99:870,0,853	18	0	1	0
chr2	135130027	135130027	C	T	exonic	RAB3GAP1	.	nonsynonymous SNV	RAB3GAP1:NM_001172435:exon12:c.C1006T:p.R336C,RAB3GAP1:NM_012233:exon12:c.C1006T:p.R336C	Warburg micro syndrome 1, Autosomal recessive	0	1517	5	0	0	5	0.00164528	.	.	.	206842	not_provided|Warburg_micro_syndrome_1|not_specified|Amenorrhea	MedGen:C3661900|MONDO:MONDO:0010822,MedGen:C1838625,OMIM:600118,Orphanet:2510|MedGen:CN169374|Human_Phenotype_Ontology:HP:0000141,MONDO:MONDO:0001836,MedGen:C0002453	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.165	0.0139611848774	0.0045	0.00199681	0.0045	0.0006	0.0023	0.0001	0.0038	0.0067	0.0055	0.0021	0.0043014	665	154602	rs150478342	0.0042	0.0042	0.0040	0.0045	0.0046	0.0041	0.0041	0.0045	0.0044	0.0005	0.0036	0.0063	0.0002	0.0059	0.0012	0.0046	0.0038	0.0022	0.0041	0.0041	0.0040	0.0042	0.0064	0.0038	0.0037	0.0059	0.0057	0.0011	0	0.0037	0.0066	0	0.0043	0	0.0064	0.0019	0.0029	0.11	0.29158	T	0.251	0.23707	T	0.006	0.13644	B	0.003	0.08700	B	0.000000	0.84330	D	0.051769	0.999997	0.58761	D	-0.705	0.01820	N	-0.56	0.71187	T	-1.97	0.45587	N	0.417	0.45709	-0.8641	0.50966	T	0.154	0.48360	T	10	0.010591298	0.00235	T	0.013961	0.33748	T	0.165	0.42395	.	.	0.77802213224	0.77597	0.2844282953665454	0.28355	0.303245547565	0.32643	0.495335102081	0.38178	T	0.355143	0.72219	T	-0.326493	0.06381	T	-0.2338	0.51402	T	0.0127724853921448	0.00217	T	0.966503	0.87759	D	0.27245972	0.50315	0.12647483	0.30460	0.2680177	0.49874	0.14211549	0.33819	-4.726	0.33718	T	0.1041798317734197	0.08119	0.104	0.18705	B	.;.;.	.;.;.	3.842022	0.55601	23.6	0.98332486068672253	0.40358	0.83692	0.42793	D	AEFBI	0.252903	0.37249	N	-0.0904584411929508	0.37810	2.205185	0.105299663919169	0.44818	2.756358	0.697943650891043	0.22663	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.05	5.05	0.67566	2.608000	0.45973	4.023000	0.41268	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.1543:0.8457:0.0:0.0	13.702	0.62093	833	0.38804	.;.;.	.	.	.	.	rs150478342	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	0.001008	0.000000	0.000000	0.000000	0.000000	0.008621	0.003049	0.000000	0.02632	655.33	36	chr2	135130027	.	C	T	655.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.051;DP=793;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.98;ReadPosRankSum=-1.987;SOR=0.756	GT:AD:DP:GQ:PL	0/1:42,31:73:99:669,0,953	18	0	1	0
chr2	135153721	135153721	G	C	exonic	RAB3GAP1	.	nonsynonymous SNV	RAB3GAP1:NM_001172435:exon19:c.G2134C:p.V712L,RAB3GAP1:NM_012233:exon19:c.G2134C:p.V712L	Warburg micro syndrome 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.00916011762551	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.546	0.07695	T	0.454	0.12884	T	0.001	0.07471	B	0.007	0.12992	B	0.002121	0.37183	N	0.258170	0.998365	0.44821	D	1.04	0.26193	L	0.96	0.42888	T	-1.06	0.28290	N	0.353	0.39457	-1.0865	0.06138	T	0.066	0.27156	T	10	0.115828454	0.21834	T	0.00916	0.24083	T	0.026	0.05648	0.189	0.09907	0.474954162714	0.47126	0.36482779472885013	0.36396	0.223275487687	0.24858	0.541095495224	0.44599	T	0.124802	0.45008	T	-0.150491	0.28235	T	-0.453947	0.27260	T	0.419142510498911	0.29659	T	0.880112	0.59716	D	0.040517136	0.05797	0.05471902	0.09465	0.040517136	0.05797	0.05471902	0.09464	-6.345	0.51130	T	0.513049502216929	0.58652	0.141	0.31074	B	.;.;.	.;.;.	2.968655	0.39555	21.0	0.99014009082590748	0.50420	0.98239	0.80830	D	AEFBI	0.655320	0.62770	D	-0.175366295483999	0.34163	1.946633	0.0285534360724214	0.41047	2.459518	0.552661290633918	0.21348	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.39	4.52	0.54797	5.813000	0.68876	8.694000	0.78086	-0.109000	0.15193	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.1466:0.0:0.8534:0.0	11.248	0.48238	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	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	489.92	33	chr2	135153721	.	G	C	489.92	.	AC=3;AF=0.083;AN=36;BaseQRankSum=-4.996;DP=1209;ExcessHet=0.3672;FS=266.608;InbreedingCoeff=-0.1014;MLEAC=3;MLEAF=0.083;MQ=60;MQRankSum=0;QD=0.93;ReadPosRankSum=1.64;SOR=9.926	GT:AD:DP:GQ:PL	0/1:140,42:182:78:78,0,2831	15	0	3	1
chr2	137970176	137970176	C	T	exonic	HNMT	.	nonsynonymous SNV	HNMT:NM_001024075:exon2:c.C149T:p.T50I,HNMT:NM_006895:exon2:c.C149T:p.T50I	Mental retardation, autosomal recessive 51, Autosomal recessive	427	1093	2	0	0	2	0.000914077	.	.	.	2358634	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.063	0.00498961428986	.	0.000199681	0.0002	0	0	0	0	0.0003	0	0.0002	0.000194	30	154602	rs199629619	0.0001	0.0002	0.0001	0.0002	0.0018	0.0001	0.0001	0.0010	0.0007	3.102e-05	4.723e-05	0	0	0	0.0018	0.0002	0.0002	9.799e-05	0.0002	0.0002	0.0002	0.0001	0.0003	0.0001	8.721e-05	0.0002	0.0002	0	0	6.54e-05	0	0	0	0	0.0003	0.0005	0	0.051	0.39334	T	0.07	0.43721	T	0.0	0.21573	B	0.002	0.16012	B	0.749514	0.09712	N	0.899265	0.999999	0.08975	N	1.95	0.52479	M	1.89	0.23688	T	-2.3	0.59059	N	0.171	0.30347	-0.9980	0.30479	T	0.025	0.10821	T	10	0.035957783	0.01870	T	0.00499	0.12598	T	0.063	0.18251	.	.	0.236278675362	0.23226	0.3702894558521705	0.36942	0.0664068669372	0.07407	0.407606720924	0.26126	T	0.111423	0.42690	T	-0.485025	0.00692	T	-0.628505	0.10528	T	0.0227613891678489	0.00996	T	0.531747	0.17943	T	0.15782401	0.35541	0.083363965	0.19098	0.15782401	0.35540	0.083363965	0.19097	-4.421	0.29840	T	0.32568498690632075	0.42383	0.124	0.38117	B	.;.;.	.;.;.	1.878661	0.23864	16.18	0.95313615282134367	0.26649	0.10867	0.16247	N	AEFGBCI	0.360370	0.45036	N	-0.980251124534344	0.09026	0.4255091	-0.953391523193075	0.10844	0.5488297	0.999854914587957	0.44174	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.563494	0.21769	0	.	.	5.28	0.281	0.14938	0.157000	0.16219	-1.133000	0.06232	0.597000	0.34315	0.090000	0.22578	0.000000	0.08366	0.918000	0.45347	0.2516:0.3447:0.2529:0.1507	1.590	0.02493	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	0.003021	0.000000	0.001359	0.000000	0.000000	0.000000	0.009146	0.003788	0.02632	636.33	38	chr2	137970176	.	C	T	636.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.89;DP=681;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.94;ReadPosRankSum=0.616;SOR=0.752	GT:AD:DP:GQ:PL	0/1:36,28:64:99:650,0,815	18	0	1	0
chr2	140994107	140994107	T	C	exonic	LRP1B	.	nonsynonymous SNV	LRP1B:NM_018557:exon16:c.A2532G:p.I844M	.	427	1063	30	2	0	34	0.0157407	.	.	.	697039	LRP1B-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.195	.	0.0028	0.0117812	0.0063	0.0007	0.0021	0.0001	0	0.0024	0.0077	0.0341	0.0058343	902	154602	rs147402550	0.0049	0.0049	0.0040	0.0059	0.0345	0.0048	0.0048	0.0335	0.0331	0.0007	0.0016	0.0007	0.0001	0.0001	0.0096	0.0033	0.0054	0.0345	0.0028	0.0028	0.0025	0.0031	0.0371	0.0026	0.0025	0.0327	0.0310	0.0007	0	0.0022	0.0009	0.0002	0	0.0034	0.0026	0.0028	0.0371	0.152	0.24468	T	0.011	0.64786	D	0.001	0.07471	B	0.003	0.08700	B	0.847102	0.07035	N	1.087950	0.999963	0.18878	N	0	0.06538	N	-2.83	0.91249	D	1.04	0.01332	N	0.099	0.08088	-0.7360	0.58658	T	0.362	0.72354	T	10	0.0046260953	0.00096	T	.	.	.	0.195	0.47612	.	.	0.182106788282	0.17826	0.11120296238086644	0.11049	0.231434023854	0.25697	0.361388236284	0.19588	T	0.082083	0.36747	T	-0.453682	0.01074	T	-0.399392	0.33455	T	0.00324615327500798	0.00034	T	0.60284	0.22604	T	0.057276886	0.11379	0.057300694	0.10391	0.057276886	0.11378	0.057300694	0.10391	-3.998	0.23774	T	.	.	0.081	0.08272	B	.	.	0.184167	0.05711	2.158	0.96061534495411727	0.28593	0.04186	0.09688	N	AEFI	0.071648	0.14272	N	-1.18149815456394	0.05280	0.2403164	-1.18537793561606	0.06153	0.2952971	0.00345728987212099	0.10124	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	5.76	-6.16	0.01919	-0.732000	0.05008	.	.	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.909000	0.44452	0.1881:0.173:0.4111:0.2277	2.222	0.03731	558	0.71484	.	.	.	.	.	.	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	0.008056	0.005051	0.002717	0.005848	0.000000	0.017241	0.006098	0.026515	0.02632	2640.33	42	chr2	140994107	.	T	C	2640.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.5;DP=886;ExcessHet=0;FS=0.51;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.82;ReadPosRankSum=1.51;SOR=0.651	GT:AD:DP:GQ:PL	0/1:102,104:206:99:2654,0,2389	18	0	1	0
chr2	144399911	144399911	A	C	exonic	ZEB2	.	nonsynonymous SNV	ZEB2:NM_001171653:exon7:c.T1204G:p.L402V,ZEB2:NM_014795:exon8:c.T1276G:p.L426V	Mowat-Wilson syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.129	0.00568662680307	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.029	0.62352	D	0.598	0.39274	P	0.436	0.45556	B	0.000010	0.62929	D	0.067136	0.99974	0.48716	D	2.135	0.59519	M	2.41	0.15492	T	-0.96	0.25551	N	0.276	0.36148	-1.1133	0.02801	T	0.048	0.20553	T	10	0.1534262	0.28960	T	0.005687	0.14742	T	0.129	0.35316	0.179	0.08626	0.261638197198	0.25763	0.29750094558808143	0.29663	1.31395625431	0.83289	0.610770881176	0.54425	T	0.02493	0.73667	T	-0.133277	0.30966	T	-0.42922	0.30023	T	0.347762763291453	0.26930	T	0.944706	0.79398	D	0.08913044	0.20814	0.082371004	0.18795	0.08913044	0.20813	0.082371004	0.18794	-5.837	0.44896	T	0.4470129396322169	0.53149	0.082	0.26545	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	2.465013	0.31763	18.84	0.9779254292627827	0.36008	0.78762	0.38909	D	AEFBCI	0.462732	0.51195	N	-0.371500912018467	0.26490	1.446085	-0.287825955360489	0.28498	1.589467	0.999747213453097	0.42466	0.706548	0.73137	0	0.610034	0.51514	0	0.547309	0.15389	0	0.714379	0.83352	0	.	.	5.53	1.86	0.24489	2.243000	0.42765	1.150000	0.24473	-0.714000	0.03913	1.000000	0.71638	0.888000	0.27792	0.984000	0.60418	0.5146:0.0:0.2142:0.2712	3.261	0.06446	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	.	.	.	.	.	.	.	.	0.02632	7342.33	34	chr2	144399911	.	A	C	7342.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.168;DP=1247;ExcessHet=0;FS=1.741;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.96;ReadPosRankSum=-0.693;SOR=0.775	GT:AD:DP:GQ:PL	0/1:255,271:526:99:7356,0,6879	18	0	1	0
chr2	147972762	147972762	G	T	exonic	ORC4	.	nonsynonymous SNV	ORC4:NM_002552:exon4:c.C202A:p.P68T,ORC4:NM_181741:exon4:c.C202A:p.P68T,ORC4:NM_181742:exon4:c.C202A:p.P68T,ORC4:NM_001190879:exon5:c.C202A:p.P68T,ORC4:NM_001374270:exon6:c.C202A:p.P68T	Meier-Gorlin syndrome 2, Autosomal recessive	3	1516	3	0	0	3	0.000988468	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.587	0.0314775019167	.	.	1.655e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs766148321	6.176e-06	8.209e-06	2.731e-06	9.656e-06	8.17e-05	2.91e-06	2.11e-06	3.788e-05	2.676e-05	0	0	0	0	0	0	1.804e-06	0	8.17e-05	6.576e-06	6.564e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.025	0.51853	D	0.041	0.69154	D	1.0	0.90584	D	0.989	0.78396	D	0.000000	0.84330	D	0.048711	1	0.81001	D	3.5	0.92762	M	0.16	0.60610	T	-6.47	0.93475	D	0.739	0.74007	0.060	0.83437	D	0.528	0.82448	D	10	0.8914622	0.88489	D	0.031478	0.53550	D	0.587	0.83471	0.748	0.87905	0.912343839665	0.91146	0.6650625523075531	0.66443	0.517476731111	0.49612	0.613424062729	0.54800	T	0.129598	0.66340	T	0.152588	0.69509	D	0.162934	0.80986	D	0.909760057926178	0.56476	D	0.956404	0.87711	D	0.8277121	0.85744	0.7648629	0.86110	0.8500315	0.87339	0.77797794	0.86906	-8.661	0.65491	D	0.5455333084130176	0.61469	0.353	0.64136	A	.;.;.;.;.;.	.;.;.;.;.;.	4.781244	0.77498	26.7	0.99772356845057064	0.86003	0.97815	0.77336	D	AEFBI	0.918517	0.88770	D	1.01088296630098	0.96069	14.26769	0.955196943176692	0.97556	16.33604	0.999895971939834	0.45129	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.88	5.88	0.94564	6.415000	0.73235	11.756000	0.95519	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	19.015	0.92870	898	0.25240	AAA+ ATPase domain;AAA+ ATPase domain;AAA+ ATPase 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	.	.	.	.	.	.	.	.	0.02632	559.33	36	chr2	147972762	.	G	T	559.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.918;DP=649;ExcessHet=0;FS=1.047;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.55;ReadPosRankSum=0.564;SOR=0.906	GT:AD:DP:GQ:PL	0/1:24,29:53:99:573,0,478	18	0	1	0
chr2	151455045	151455045	A	G	exonic	RIF1	.	nonsynonymous SNV	RIF1:NM_001177665:exon21:c.A2495G:p.N832S,RIF1:NM_001177663:exon22:c.A2495G:p.N832S,RIF1:NM_001177664:exon22:c.A2495G:p.N832S,RIF1:NM_018151:exon22:c.A2495G:p.N832S	.	.	.	.	.	.	.	.	.	.	.	4054956	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.177	0.206871900288	7.7e-05	.	2.472e-05	9.638e-05	0	0	0	2.997e-05	0	0	1.94e-05	3	154602	rs373042016	1.026e-05	1.026e-05	1.225e-05	8.252e-06	0.0002	6.16e-06	4.89e-06	3.984e-05	2.374e-05	0.0001	0	0	0	0	0.0002	5.396e-06	3.312e-05	2.319e-05	3.288e-05	3.284e-05	0	6.732e-05	9.66e-05	1.261e-05	7.98e-06	3.251e-05	1.916e-05	9.66e-05	0	6.549e-05	0	0	0	0	0	0	0	0.456	0.08839	T	0.565	0.08961	T	0.013	0.16609	B	0.002	0.12992	B	0.543236	0.05326	N	1.203820	1	0.08975	N	0	0.06538	N	-4.92	0.98371	D	-0.36	0.13035	N	0.061	0.05670	0.310	0.87712	D	0.762	0.91890	D	10	0.036370605	0.01932	T	0.206872	0.87063	D	0.177	0.44549	.	.	0.474515700568	0.47080	0.06504760522674656	0.06443	0.0384574760045	0.04094	0.336455643177	0.15907	T	0.09035	0.38566	T	-0.243798	0.14869	T	-0.351307	0.39055	T	0.00693225720897317	0.00079	T	0.556544	0.19325	T	0.015249674	0.00129	0.020011337	0.00115	0.015249674	0.00129	0.020011337	0.00115	-2.822	0.08388	T	.	.	0.066	0.02861	B	.;.;.;.;.	.;.;.;.;.	0.050789	0.04644	1.301	0.67756685796369598	0.08450	0.03004	0.07870	N	AEFGBI	0.023763	0.01370	N	-1.32598854808046	0.03381	0.1509141	-1.29070375864893	0.04555	0.2151301	0.953333850337991	0.28067	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.55	-3.26	0.04750	-0.863000	0.04367	.	.	-0.059000	0.16651	0.000000	0.06391	0.001000	0.17328	0.923000	0.45890	0.2973:0.0:0.3699:0.3327	4.942	0.13323	806	0.43582	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2236.33	33	chr2	151455045	.	A	G	2236.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.9;DP=818;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.78;ReadPosRankSum=-1.188;SOR=0.709	GT:AD:DP:GQ:PL	0/1:85,90:175:99:2250,0,1905	18	0	1	0
chr2	152636543	152636545	AAT	-	exonic	FMNL2	.	nonframeshift deletion	FMNL2:NM_052905:exon22:c.2797_2799del:p.N933del	.	417	1100	4	1	0	6	0.00271985	.	.	.	3500740	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0032	0.00139776	0.0040	0.0017	0.0020	0	0.0045	0.0049	0.0087	0.0039	0.0002305	6	26028	rs563346055	0.0035	0.0034	0.0035	0.0034	0.0040	0.0034	0.0033	0.0039	0.0038	0.0004	0.0010	0.0002	0	0.0034	0.0021	0.0040	0.0028	0.0024	0.0021	0.0021	0.0021	0.0020	0.0033	0.0019	0.0018	0.0029	0.0028	0.0006	0	0.0014	0	0	0.0028	0.0034	0.0033	0.0014	0.0025	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003021	0.000000	0.002717	0.000000	0.000000	0.000000	0.009146	0.003788	0.02632	1376.29	40	chr2	152636542	.	CAAT	C	1376.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.924;DP=791;ExcessHet=0;FS=0.818;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.58;ReadPosRankSum=-0.105;SOR=0.601	GT:AD:DP:GQ:PL	0/1:46,37:83:99:1390,0,1779	18	0	1	0
chr2	159349180	159349180	C	G	exonic	BAZ2B	.	nonsynonymous SNV	BAZ2B:NM_001289975:exon28:c.G4856C:p.G1619A,BAZ2B:NM_001329857:exon29:c.G4802C:p.G1601A,BAZ2B:NM_001329858:exon29:c.G4889C:p.G1630A,BAZ2B:NM_013450:exon29:c.G4964C:p.G1655A	.	.	.	.	.	.	.	.	.	.	.	3196318	BAZ2B-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.152	0.0119452831937	0.0007	0.000599042	0.0002	0.0028	8.675e-05	0	0	0	0	0	0.0002199	34	154602	rs34949465	0.0001	0.0001	0.0001	8.938e-05	0.0042	0.0001	9.967e-05	0.0036	0.0034	0.0042	0.0002	0	0	0	0.0002	2.698e-06	0.0004	3.478e-05	0.0010	0.0010	0.0011	0.0010	0.0036	0.0009	0.0009	0.0031	0.0030	0.0036	0	0.0003	0	0	0	0	4.41e-05	0.0005	0.0002	0.083	0.46129	T	0.236	0.24987	T	0.748	0.45573	P	0.147	0.34014	B	0.002494	0.36462	U	0.000000	0.993278	0.41889	D	2.34	0.67151	M	0.49	0.55775	T	-0.67	0.21429	N	0.732	0.76481	-0.9071	0.47203	T	0.139	0.45753	T	10	0.029918313	0.01118	T	0.011945	0.30057	T	0.152	0.39956	.	.	0.626795333227	0.62375	0.36890750500170855	0.36804	0.0512016197912	0.05634	0.525375068188	0.42383	T	0.012982	0.11314	T	-0.215591	0.18599	T	-0.0826029	0.64713	T	0.0270440361937644	0.01550	T	0.959204	0.84623	D	0.050028138	0.08975	0.0866538	0.20089	0.050028138	0.08974	0.0866538	0.20089	-3.961	0.23218	T	.	.	0.100	0.17189	B	.;.	.;.	3.049167	0.40908	21.3	0.97172062325726904	0.32682	0.88234	0.48071	D	AEFBI	0.209844	0.33579	N	0.193349828471145	0.50879	3.273864	0.283140169606572	0.54554	3.620114	0.989393603852852	0.31812	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.47	5.47	0.80345	3.774000	0.55048	6.030000	0.52909	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.917000	0.45243	0.0:1.0:0.0:0.0	19.676	0.95929	552	0.72024	.;.	.	.	.	.	.	Likely benign	0	0	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	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1987.33	33	chr2	159349180	.	C	G	1987.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.115;DP=798;ExcessHet=0;FS=1.267;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.82;ReadPosRankSum=0.556;SOR=0.557	GT:AD:DP:GQ:PL	0/1:72,83:155:99:2001,0,1764	18	0	1	0
chr2	169157427	169157427	A	G	exonic	LRP2	.	nonsynonymous SNV	LRP2:NM_004525:exon64:c.T11963C:p.I3988T	Donnai-Barrow syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.747	0.127879568152	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.738e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.53900	D	0.005	0.72224	D	0.995	0.67487	D	0.756	0.56253	P	0.000003	0.62929	D	0.103381	1	0.81001	D	2.885	0.83555	M	-1.6	0.82165	D	-3.48	0.67941	D	0.626	0.64052	-0.0772	0.80616	T	0.508	0.81488	D	10	0.7716267	0.77129	D	0.12788	0.80975	D	0.747	0.91285	0.564	0.68499	0.503923442013	0.50028	0.7832040228606884	0.78271	1.78967707913	0.91486	0.593845129013	0.52036	T	0.298482	0.67104	T	0.260398	0.79567	D	0.136267	0.79302	D	0.990498244762421	0.80716	D	0.942106	0.78341	D	0.4420152	0.63532	0.4147697	0.65610	0.4420152	0.63532	0.4147697	0.65610	-6.039	0.46604	T	.	.	0.619	0.69669	P	.;.	.;.	3.722853	0.53211	23.3	0.99801365832489319	0.88639	0.99146	0.91905	D	AEFBI	0.877918	0.80286	D	0.529340372304536	0.68833	5.271924	0.581489057250946	0.73612	5.999277	0.999999961098423	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.88	5.88	0.94564	8.806000	0.91549	11.220000	0.89740	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.966000	0.53164	1.0:0.0:0.0:0.0	15.949	0.79609	893	0.26510	EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	1044.25	38	chr2	169157427	.	A	G	1044.25	.	AC=3;AF=0.1;AN=30;BaseQRankSum=-3.208;DP=749;ExcessHet=0.3672;FS=165.109;InbreedingCoeff=-0.1726;MLEAC=4;MLEAF=0.133;MQ=60;MQRankSum=0;QD=7.51;ReadPosRankSum=0.932;SOR=7.327	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:31,14:45:99:0|1:169157427_A_G:360,0,1261:169157427	12	0	3	4
chr2	169157430	169157430	A	G	exonic	LRP2	.	nonsynonymous SNV	LRP2:NM_004525:exon64:c.T11960C:p.F3987S	Donnai-Barrow syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.820	0.122439220717	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs61995919	2.186e-06	0.0002	4.374e-06	0	2.902e-06	5.8e-07	1.6e-07	7.7e-07	2.1e-07	0	0	0	0	0	0	2.902e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.30097	T	0.0	0.92824	D	0.99	0.63424	D	0.743	0.55802	P	0.000002	0.62929	D	0.102964	1	0.81001	D	2.74	0.80084	M	-1.79	0.83815	D	-5.18	0.83557	D	0.93	0.93487	-0.0371	0.81481	T	0.497	0.80946	T	10	0.8600701	0.85222	D	0.122439	0.80341	D	0.820	0.94238	0.665	0.80300	0.61012745286	0.60699	0.9427786389111651	0.94258	2.20355478117	0.95687	0.612346053123	0.54648	T	0.344936	0.71339	T	0.305724	0.83417	D	0.201375	0.83202	D	0.992530286312103	0.83038	D	0.530047	0.17581	T	0.5582403	0.70412	0.71140873	0.82975	0.5582403	0.70413	0.71140873	0.82976	-6.333	0.48983	T	.	.	0.965	0.88693	P	.;.	.;.	4.115159	0.61465	24.3	0.99863933463691823	0.94184	0.99146	0.91905	D	AEFBI	0.876095	0.79991	D	0.536490062201209	0.69265	5.332245	0.591566982345825	0.74334	6.11932	0.999999961098423	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.88	5.88	0.94564	8.806000	0.91549	11.220000	0.89740	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	1.0:0.0:0.0:0.0	15.949	0.79609	893	0.26510	EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.125	384.75	25	chr2	169157430	.	A	G	384.75	.	AC=2;AF=0.125;AN=16;BaseQRankSum=0.96;DP=647;ExcessHet=0.8031;FS=212.143;InbreedingCoeff=-0.3376;MLEAC=3;MLEAF=0.188;MQ=60;MQRankSum=0;QD=2.13;ReadPosRankSum=1.25;SOR=7.522	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:31,14:45:99:0|1:169157427_A_G:360,0,1261:169157427	6	0	2	11
chr2	169157431	169157431	A	G	exonic	LRP2	.	nonsynonymous SNV	LRP2:NM_004525:exon64:c.T11959C:p.F3987L	Donnai-Barrow syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.338	0.0361222483026	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.753e-05	0.0022	0.0001	8.903e-05	0.0001	8.287e-05	7.743e-05	9.794e-05	9.145e-05	3.557e-05	0	0	5.575e-05	0.0001	0	0.0001	0.0001	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.40832	D	0.084	0.41239	T	0.043	0.21573	B	0.014	0.16862	B	0.000002	0.62929	D	0.102964	0.999998	0.58761	D	2.045	0.56016	M	-1.73	0.83327	D	-4.13	0.75139	D	0.626	0.64052	-0.5484	0.66847	T	0.351	0.71502	T	10	0.30924746	0.48413	T	0.036122	0.56792	D	0.338	0.66010	0.459	0.52590	0.505559545342	0.50193	0.8869475601486423	0.88663	0.901021167792	0.70643	0.635681688786	0.57951	T	0.353004	0.72036	T	0.0596301	0.59566	T	-0.152122	0.59056	T	0.97569864988327	0.71047	D	0.750125	0.37153	T	0.4331667	0.62959	0.4349336	0.66996	0.4331667	0.62959	0.4349336	0.66996	-5.635	0.43111	T	.	.	0.985	0.92330	P	.;.	.;.	3.238651	0.44194	21.9	0.99575746748544613	0.72682	0.96519	0.69544	D	AEFBI	0.619425	0.60486	D	-0.0799446757033397	0.38272	2.239039	0.131085804566848	0.46146	2.865539	0.990828206028358	0.32281	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.88	5.88	0.94564	5.781000	0.68615	11.220000	0.89740	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	1.0:0.0:0.0:0.0	15.949	0.79609	893	0.26510	EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	379.9	25	chr2	169157431	.	A	G	379.9	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.99;DP=638;ExcessHet=0.8031;FS=208.14;InbreedingCoeff=-0.3712;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=2.11;ReadPosRankSum=1.25;SOR=7.475	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:31,13:44:99:0|1:169157427_A_G:353,0,1263:169157427	5	0	2	12
chr2	169157433	169157433	C	G	exonic	LRP2	.	nonsynonymous SNV	LRP2:NM_004525:exon64:c.G11957C:p.G3986A	Donnai-Barrow syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.685	0.0741312127491	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0047	0.0004	0.0003	0.0004	0.0003	0.0003	0.0004	0.0004	0.0004	0	0.0001	7.766e-05	0	0	0.0004	0.0001	9.746e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.054	0.47097	T	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.93	0.84523	M	-1.65	0.82625	D	-4.04	0.74427	D	0.875	0.87265	0.185	0.85659	D	0.622	0.86676	D	10	0.8524667	0.84430	D	0.074131	0.71964	D	0.685	0.88490	0.577	0.70217	0.675757427234	0.67301	0.9174403899428152	0.91719	1.7735257329	0.91315	0.485903203487	0.36872	T	0.317913	0.68933	T	0.272253	0.80643	D	0.153296	0.80392	D	0.991292774677277	0.81572	D	0.875412	0.58680	D	0.4754566	0.65624	0.43292475	0.66862	0.4754566	0.65624	0.43292475	0.66862	-8.734	0.65968	D	.	.	0.383	0.58622	A	.;.	.;.	3.800135	0.54746	23.5	0.99552602734415152	0.71211	0.98963	0.89243	D	AEFBI	0.809705	0.73314	D	0.664427782730604	0.77307	6.649371	0.686270369385145	0.81334	7.502817	0.999999999967115	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.88	5.88	0.94564	7.428000	0.79479	4.890000	0.45755	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.968000	0.53726	0.0:1.0:0.0:0.0	19.823	0.96602	893	0.26510	EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	378.84	20	chr2	169157433	.	C	G	378.84	.	AC=2;AF=0.2;AN=10;BaseQRankSum=-0.256;DP=553;ExcessHet=0.8031;FS=206.681;InbreedingCoeff=-0.3508;MLEAC=4;MLEAF=0.4;MQ=60;MQRankSum=0;QD=2.13;ReadPosRankSum=1.06;SOR=7.427	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:31,13:44:99:0|1:169157427_A_G:353,0,1263:169157427	3	0	2	14
chr2	169157434	169157434	C	G	exonic	LRP2	.	nonsynonymous SNV	LRP2:NM_004525:exon64:c.G11956C:p.G3986R	Donnai-Barrow syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.799	0.118172883463	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.487e-05	0.0016	4.341e-05	4.634e-05	6.271e-05	3.572e-05	3.242e-05	4.378e-05	4.003e-05	6.271e-05	0	0	0	0	0	5.582e-05	3.463e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.036	0.52060	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.93	0.84523	M	-1.66	0.82715	D	-5.59	0.86527	D	0.964	0.97426	0.301	0.87568	D	0.629	0.86968	D	10	0.890576	0.88398	D	0.118173	0.79815	D	0.799	0.93425	0.638	0.77470	0.80244631523	0.80060	0.9574406042201115	0.95729	1.86679822297	0.92466	0.568949699402	0.48529	T	0.474796	0.80610	T	0.414005	0.90700	D	0.356913	0.90584	D	0.996428310871124	0.89318	D	0.959004	0.84537	D	0.72273713	0.79314	0.6796857	0.81181	0.72273713	0.79316	0.6796857	0.81182	-7.652	0.58673	D	.	.	0.773	0.76054	P	.;.	.;.	4.159784	0.62465	24.5	0.99916567827365443	0.98449	0.98963	0.89243	D	AEFBI	0.835750	0.75361	D	0.685555810397683	0.78685	6.921854	0.701553584419606	0.82495	7.781566	0.999999999967115	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.88	5.88	0.94564	7.428000	0.79479	7.675000	0.64997	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.957000	0.51019	0.0:1.0:0.0:0.0	19.823	0.96602	893	0.26510	EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	377.35	20	chr2	169157434	.	C	G	377.35	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.641;DP=553;ExcessHet=0.8031;FS=206.681;InbreedingCoeff=-0.3298;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=2.12;ReadPosRankSum=1.19;SOR=7.427	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:31,13:44:99:0|1:169157427_A_G:353,0,1263:169157427	4	0	2	13
chr2	169157436	169157436	C	G	exonic	LRP2	.	nonsynonymous SNV	LRP2:NM_004525:exon64:c.G11954C:p.G3985A	Donnai-Barrow syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.607	0.094844139814	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.963e-05	0.0021	9.586e-05	8.343e-05	0.0001	7.644e-05	7.154e-05	9.486e-05	8.871e-05	3.219e-05	0	3.955e-05	0	0	0	0.0001	7.09e-05	2.388e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.37536	T	0.007	0.69154	D	1.0	0.90584	D	0.998	0.88582	D	0.000003	0.62929	D	0.103814	0.999998	0.58761	D	2.815	0.81989	M	-1.85	0.84267	D	-3.44	0.67477	D	0.682	0.68863	0.380	0.88792	D	0.640	0.87434	D	10	0.6728179	0.70815	D	0.094844	0.76324	D	0.607	0.84559	0.496	0.58520	0.827288872919	0.82565	0.8308267525920461	0.83041	1.70071209603	0.90279	0.435361415148	0.29943	T	0.269024	0.64119	T	0.221167	0.75886	D	0.0799145	0.75572	D	0.987110495567322	0.77675	D	0.963604	0.86445	D	0.24565183	0.47526	0.27967104	0.53937	0.24565183	0.47526	0.27967104	0.53936	-6.662	0.51523	T	.	.	0.250	0.48448	B	.;.	.;.	3.405079	0.47205	22.4	0.99252938159557735	0.56924	0.93755	0.59098	D	AEFBI	0.403661	0.47726	N	0.431237016008458	0.63148	4.542994	0.420543337839202	0.62847	4.507159	0.998516418245828	0.37109	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.88	5.0	0.66209	4.571000	0.60593	5.970000	0.51981	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.932000	0.46971	0.0:0.8707:0.1293:0.0	16.750	0.85343	893	0.26510	EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	300.54	38	chr2	169157436	.	C	G	300.54	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.843;DP=777;ExcessHet=0.3672;FS=156.251;InbreedingCoeff=-0.0868;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=2.13;ReadPosRankSum=0.92;SOR=7.222	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:30,12:42:99:0|1:169157427_A_G:314,0,1224:169157427	18	0	1	0
chr2	169157437	169157437	C	G	exonic	LRP2	.	nonsynonymous SNV	LRP2:NM_004525:exon64:c.G11953C:p.G3985R	Donnai-Barrow syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	3508712	LRP2-related_disorder	.	no_assertion_criteria_provided	Uncertain_significance	.	.	.	.	.	.	.	.	0.602	0.203609127207	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.865e-07	0.0002	0	1.38e-06	9.03e-07	0	0	.	.	0	0	0	0	0	0	9.03e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.000003	0.62929	D	0.103814	1	0.81001	D	2.815	0.81989	M	-1.86	0.84341	D	-4.75	0.80256	D	0.855	0.85132	0.339	0.88174	D	0.608	0.86081	D	10	0.7769506	0.77537	D	0.203609	0.86885	D	0.602	0.84291	0.524	0.62818	0.774801070231	0.77273	0.9005944074231604	0.90031	1.84831481728	0.92256	0.514880537987	0.40906	T	0.324763	0.69555	T	0.296866	0.82715	D	0.188651	0.82492	D	0.99759715795517	0.91939	D	0.960604	0.85218	D	0.49745262	0.66945	0.3962246	0.64269	0.49745262	0.66946	0.3962246	0.64269	-6.379	0.49345	T	.	.	0.381	0.58505	A	.;.	.;.	3.539775	0.49704	22.8	0.99893898806594628	0.96742	0.97088	0.72619	D	AEFBI	0.648092	0.62303	D	0.376887958852258	0.60170	4.203269	0.37201848805068	0.59845	4.165976	0.99903127065887	0.38264	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.88	5.0	0.66209	4.596000	0.60764	5.910000	0.51009	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.920000	0.45560	0.135:0.865:0.0:0.0	16.096	0.80936	893	0.26510	EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.03125	323.07	33	chr2	169157437	.	C	G	323.07	.	AC=1;AF=0.031;AN=32;BaseQRankSum=-1.75;DP=671;ExcessHet=0.3672;FS=200.397;InbreedingCoeff=-0.1461;MLEAC=1;MLEAF=0.031;MQ=60;MQRankSum=0;QD=2.29;ReadPosRankSum=0.683;SOR=7.378	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:30,12:42:99:0|1:169157427_A_G:314,0,1224:169157427	15	0	1	3
chr2	176123231	176123231	G	C	exonic	HOXD9	.	nonsynonymous SNV	HOXD9:NM_014213:exon1:c.G463C:p.G155R	.	403	1108	7	0	4	11	0.0031489	.	.	.	3211036	HOXD9-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.463	0.947574720286	.	.	0.0025	0	0	0	0	0.0006	0	0.0050	0.0001811	28	154602	rs191379716	0.0009	0.0008	0.0008	0.0010	0.0018	0.0008	0.0008	0.0015	0.0014	8.123e-05	4.265e-05	5.479e-05	0	0.0013	0.0012	0.0009	0.0006	0.0018	0.0006	0.0006	0.0006	0.0006	0.0010	0.0005	0.0004	0.0008	0.0007	7.286e-05	0	0.0002	0	0	0.0007	0	0.0010	0.0014	0.0009	0.005	0.63226	D	0.006	0.70582	D	0.961	0.55431	D	0.674	0.53247	P	0.000000	0.00162	N	7739.210000	0.991515	0.24023	N	1.885	0.50048	L	-3.28	0.93691	D	-3.75	0.71157	D	0.369	0.41063	-0.0003	0.82251	T	0.799	0.93198	D	10	0.029539794	0.01080	T	0.947575	0.99637	D	0.463	0.75956	0.552	0.66856	0.974294610393	0.97402	0.6359551298934923	0.63529	1.23621605308	0.81471	0.930284500122	0.99003	D	0.396303	0.75496	T	-0.165452	0.25925	T	-0.0172215	0.69212	D	0.327405780553818	0.26121	T	0.751225	0.37284	T	0.5188764	0.68195	0.6973059	0.82174	0.5188764	0.68196	0.6973059	0.82175	-5.965	0.45986	T	.	.	0.497	0.64435	A	.	.	3.239769	0.44223	21.9	0.99636359301433719	0.76387	0.89043	0.49277	D	AEFDBCI	0.427387	0.49135	N	0.207477110945599	0.51560	3.336341	0.169007824090087	0.48157	3.035556	0.998210038955848	0.36589	0.455138	0.09556	0	0.59043	0.45803	0	0.606814	0.37721	0	0.56751	0.32155	0	.	.	3.52	2.6	0.30173	3.484000	0.52965	8.929000	0.78407	0.558000	0.28311	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.8277:0.1723	12.187	0.53554	717	0.55835	Hox9, N-terminal activation 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	.	.	.	.	.	.	.	.	0.02632	1682.85	87	chr2	176123231	.	G	C	1682.85	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.793;DP=864;ExcessHet=0.119;FS=5.438;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.15;ReadPosRankSum=1.89;SOR=0.737	GT:AD:DP:GQ:PL	0/1:20,21:41:99:506,0,406	18	0	1	0
chr2	178546480	178546480	A	T	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon170:c.T67656A:p.D22552E,TTN:NM_133432:exon171:c.T68031A:p.D22677E,TTN:NM_133437:exon171:c.T68232A:p.D22744E,TTN:NM_133378:exon291:c.T87147A:p.D29049E,TTN:NM_001256850:exon292:c.T89928A:p.D29976E,TTN:NM_001267550:exon342:c.T94851A:p.D31617E	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	2	1486	32	2	0	36	0.0119681	.	.	.	56709	Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Tibial_muscular_dystrophy|Dilated_cardiomyopathy_1G|not_specified|Cardiomyopathy|TTN-related_disorder|Early-onset_myopathy_with_fatal_cardiomyopathy|Cardiovascular_phenotype|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|not_provided	MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MedGen:CN169374|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|.|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MedGen:CN230736|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.362	0.0386268382034	0.0026	0.00179712	0.0029	0.0007	0.0056	0	0	0.0038	0.0023	0.0014	0.0029236	452	154602	rs72648256	0.0029	0.0029	0.0029	0.0029	0.0217	0.0028	0.0028	0.0186	0.0175	0.0006	0.0058	0.0096	0	0.0003	0.0217	0.0028	0.0054	0.0010	0.0030	0.0030	0.0032	0.0028	0.0058	0.0027	0.0027	0.0048	0.0045	0.0007	0.0724	0.0058	0.0089	0	0.0005	0.0204	0.0030	0.0066	0.0019	0.077	0.53172	T	.	.	.	0.999	0.77913	D	0.991	0.79672	D	.	.	.	.	0.999917	0.52396	D	2.37	0.68279	M	-0.6	0.72889	T	-2.75	0.65397	D	0.344	0.63544	-0.0816	0.80518	T	0.475	0.79862	T	9	0.0069538355	0.00158	T	0.038627	0.58335	D	0.362	0.68230	0.414	0.45216	0.456738291233	0.45297	.	.	0.446550992324	0.44524	0.683138608932	0.64719	T	.	.	.	-0.355689	0.04380	T	-0.281365	0.46664	T	0.0569647524834986	0.06682	T	0.846715	0.53348	T	.	.	.	.	.	.	.	.	-5.637	0.43129	T	.	.	0.549	0.66730	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.244476	0.16405	12.52	0.9353988724361828	0.23366	0.94583	0.61639	D	AEFBI	0.621735	0.60632	D	0.621269056086818	0.74523	6.146958	0.589645623696016	0.74194	6.096106	0.999789397888448	0.43007	0.475973	0.10046	0	0.546412	0.12157	0	0.670488	0.60580	0	0.528226	0.09195	0	.	.	6.03	4.88	0.63131	4.287000	0.58794	.	.	0.756000	0.94297	1.000000	0.71638	0.996000	0.32793	0.993000	0.69303	0.8609:0.0:0.1391:0.0	9.145	0.36089	484	0.77165	.;.;Immunoglobulin-like domain;Immunoglobulin-like domain;.;Immunoglobulin-like domain;Immunoglobulin-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	1	0	0	0	0	0	0	0.020141	0.030303	0.031250	0.026316	0.000000	0.017241	0.006098	0.000000	0.02632	3076.33	44	chr2	178546480	.	A	T	3076.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.52;DP=938;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.7;ReadPosRankSum=-0.683;SOR=0.658	GT:AD:DP:GQ:PL	0/1:83,113:196:99:3090,0,2197	18	0	1	0
chr2	178735576	178735576	G	C	exonic	TTN	.	nonsynonymous SNV	TTN:NM_133378:exon47:c.C11138G:p.T3713S,TTN:NM_001256850:exon48:c.C13919G:p.T4640S,TTN:NM_001267550:exon50:c.C14870G:p.T4957S	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	0	1481	38	3	0	44	0.0146374	.	.	.	55759	Cardiomyopathy|Dilated_cardiomyopathy_1G|Early-onset_myopathy_with_fatal_cardiomyopathy|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Tibial_muscular_dystrophy|not_provided|Cardiovascular_phenotype|not_specified|TTN-related_disorder	Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MedGen:C3661900|MedGen:CN230736|MedGen:CN169374|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.101	0.0229239419314	0.0026	0.00179712	0.0032	0.0005	0.0055	0	0	0.0043	0.0023	0.0015	0.0031436	486	154602	rs72648925	0.0030	0.0030	0.0030	0.0030	0.0210	0.0029	0.0029	0.0180	0.0168	0.0006	0.0053	0.0096	0	0.0004	0.0210	0.0030	0.0054	0.0010	0.0029	0.0029	0.0031	0.0026	0.0048	0.0026	0.0026	0.0040	0.0036	0.0007	0.0724	0.0048	0.0092	0	0.0003	0.0204	0.0031	0.0057	0.0012	0.845	0.02774	T	.	.	.	0.042	0.21471	B	0.089	0.29769	B	.	.	.	.	1	0.81001	D	.	.	.	-0.21	0.66294	T	-1.59	0.38345	N	0.218	0.25499	-0.7643	0.57171	T	0.210	0.56973	T	9	0.010286361	0.00230	T	0.022924	0.45860	T	0.101	0.28911	0.411	0.44723	0.267755039894	0.26402	.	.	0.0944205393079	0.10659	0.299888879061	0.10385	T	.	.	.	-0.400026	0.02314	T	-0.345051	0.39772	T	0.0151876776152873	0.00332	T	0.525248	0.26896	T	.	.	.	.	.	.	.	.	-4.441	0.30109	T	.	.	0.092	0.13456	B	.;.;.;.	.;.;.;.	2.060744	0.26204	17.03	0.78687213788378996	0.12409	0.90596	0.51903	D	AEFBI	0.631242	0.61229	D	-0.0168114708298125	0.41095	2.452012	0.154209315163401	0.47365	2.967873	0.99297273192638	0.33037	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.77	4.79	0.60909	2.045000	0.40873	.	.	0.676000	0.76740	0.994000	0.38300	1.000000	0.68203	0.827000	0.38976	0.0:0.0:0.7496:0.2504	13.953	0.63641	341	0.85936	.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.016616	0.005051	0.028533	0.029240	0.000000	0.008621	0.009146	0.000000	0.02632	2033.33	34	chr2	178735576	.	G	C	2033.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.45;DP=803;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.89;ReadPosRankSum=-0.496;SOR=0.666	GT:AD:DP:GQ:PL	0/1:89,82:171:99:2047,0,2231	18	0	1	0
chr2	185788763	185788763	T	C	exonic	FSIP2	.	nonsynonymous SNV	FSIP2:NM_173651:exon16:c.T1627C:p.Y543H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.00952230166686	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.233e-07	6.84e-07	0	1.466e-06	2.802e-05	0	0	.	.	0	2.802e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.33254	T	0.151	0.32355	T	.	.	.	.	.	.	0.029353	0.25467	N	0.285083	1	0.08975	N	0.975	0.24501	L	0.7	0.51474	T	-4.2	0.75695	D	0.25	0.28264	-0.9920	0.32089	T	0.131	0.44088	T	8	0.1811865	0.33338	T	0.009522	0.24924	T	0.045	0.12272	.	.	0.300110245524	0.29617	0.30507823696496533	0.30420	.	.	0.402892738581	0.25472	T	0.084235	0.37232	T	-0.129528	0.31573	T	-0.423834	0.30638	T	0.827134609222412	0.48309	D	0.648535	0.25952	T	0.1483487	0.33872	0.2051832	0.44677	0.1483487	0.33872	0.2051832	0.44676	-3.151	0.11891	T	.	.	0.141	0.31048	B	.	.	1.106358	0.14913	11.43	0.9066698345914308	0.19918	0.02831	0.07574	N	AEFI	0.055248	0.10114	N	-0.416646077433976	0.24884	1.346905	-0.528388235583338	0.21383	1.156521	2.15378788892171E-6	0.01202	0.553676	0.25195	0	0.588066	0.40923	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.87	2.23	0.27189	0.465000	0.21715	1.558000	0.27338	0.665000	0.62972	0.000000	0.06391	0.214000	0.23665	0.747000	0.35681	0.0:0.2565:0.0:0.7435	7.014	0.24056	790	0.46189	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	2287.33	33	chr2	185788763	.	T	C	2287.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.35;DP=797;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.15;ReadPosRankSum=1.05;SOR=0.711	GT:AD:DP:GQ:PL	0/1:63,88:151:99:2301,0,1670	18	0	1	0
chr2	185796083	185796083	G	A	exonic	FSIP2	.	nonsynonymous SNV	FSIP2:NM_173651:exon16:c.G8947A:p.G2983S	.	436	1070	16	0	0	16	0.00742115	.	.	.	707890	FSIP2-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.098	0.0145428648513	.	0.00179712	0.0032	0	0	0	0	0.0073	0.0051	0.0018	0.0008797	136	154602	rs142675481	0.0034	0.0032	0.0034	0.0034	0.0193	0.0033	0.0033	0.0163	0.0152	0.0009	0.0026	0.0144	0	0.0008	0.0193	0.0034	0.0037	0.0019	0.0026	0.0026	0.0026	0.0027	0.0036	0.0024	0.0023	0.0032	0.0031	0.0006	0	0.0028	0.0168	0	0.0006	0.0034	0.0036	0.0048	0.0025	0.841	0.02803	T	0.921	0.02864	T	.	.	.	.	.	.	0.956254	0.07688	N	1.019820	1	0.08975	N	1.35	0.33515	L	1.12	0.38718	T	-1.78	0.42001	N	0.118	0.10769	-1.0130	0.25975	T	0.046	0.19879	T	8	0.005519718	0.00122	T	0.014543	0.34724	T	0.098	0.28162	.	.	0.0138822411134	0.00435	0.07517808770623123	0.07453	.	.	0.248386114836	0.03599	T	0.052191	0.29091	T	-0.495159	0.00609	T	-0.484182	0.24004	T	0.00956093055494588	0.00124	T	0.570043	0.20293	T	0.030915478	0.02837	0.07118786	0.15215	0.030915478	0.02837	0.07118786	0.15214	-1.606	0.01996	T	.	.	0.088	0.11558	B	.	.	-0.145085	0.03381	0.606	0.40151901440451598	0.02816	0.02581	0.07133	N	AEFHCI	0.044896	0.07278	N	-1.45980862271822	0.02140	0.09420565	-1.52082405954698	0.02184	0.1000747	2.98581108424224E-6	0.01202	0.553676	0.25195	0	0.547309	0.14657	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.36	-1.84	0.07387	-0.054000	0.11783	1.375000	0.25987	-0.728000	0.03745	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5665:0.0:0.4335:0.0	10.689	0.45058	756	0.51065	.	.	.	.	.	.	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	0.009259	0.015957	0.016129	0.023256	0.000000	0.000000	0.000000	0.000000	0.02632	2040.33	91	chr2	185796083	.	G	A	2040.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.62;DP=1823;ExcessHet=0;FS=0.565;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.07;ReadPosRankSum=0.828;SOR=0.631	GT:AD:DP:GQ:PL	0/1:91,78:169:99:2054,0,2347	18	0	1	0
chr2	186504215	186504215	G	C	splicing	ZC3H15	NM_018471:exon6:c.717+1G>C	.	.	.	.	.	.	.	.	.	.	1.0000	0.934	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0056	0.0007	0.0006	0.0009	0.0006	0.0006	0.0007	0.0007	0.0006	9.356e-05	0.0004	0.0002	0.0001	0.0009	0.0008	0.0006	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.300962	0.83045	D	0.194535	0.82825	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.169298	0.96223	35	0.9948224112750832	0.66959	0.99140	0.91816	D	ALL	.	.	.	1.14176403290314	0.98836	19.55828	0.977087065195557	0.98133	17.50421	1.0	0.98316	0.17398	0.03958	1	0.011162	0.00042	3	0.199235	0.04519	0	0.113624	0.03431	2	0.984412	0.91620	5.01	5.01	0.66477	9.889000	0.98569	11.679000	0.94198	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.0:0.0:1.0:0.0	18.684	0.91518	410	0.82135	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.3235	1518.25	38	chr2	186504215	.	G	C	1518.25	.	AC=11;AF=0.324;AN=34;BaseQRankSum=1.56;DP=1053;ExcessHet=18.7922;FS=99.238;InbreedingCoeff=-0.634;MLEAC=12;MLEAF=0.353;MQ=60;MQRankSum=0;QD=2.4;ReadPosRankSum=1.93;SOR=10.057	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:22,15:37:63:.:.:63,0,289:.	6	0	11	2
chr2	186837373	186837373	G	T	exonic	ZSWIM2	.	nonsynonymous SNV	ZSWIM2:NM_182521:exon5:c.C676A:p.L226M	.	438	1042	39	3	0	45	0.0211367	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.280	.	0.0052	0.00758786	0.0063	0.0007	0.0046	0.0003	0.0023	0.0064	0.0088	0.0152	0.0060995	943	154602	rs112852209	0.0061	0.0061	0.0057	0.0066	0.0215	0.0060	0.0060	0.0184	0.0173	0.0010	0.0049	0.0092	2.521e-05	0.0016	0.0215	0.0058	0.0071	0.0157	0.0052	0.0052	0.0051	0.0054	0.0180	0.0049	0.0048	0.0150	0.0138	0.0010	0.0230	0.0082	0.0086	0.0004	0.0027	0.0170	0.0064	0.0085	0.0180	0.01	0.56456	D	0.041	0.50514	D	0.998	0.73220	D	0.956	0.69739	D	0.026222	0.25954	N	0.186044	0.999995	0.08975	N	2.685	0.78553	M	-2.35	0.88066	D	-0.7	0.19933	N	0.498	0.53093	-0.0390	0.81439	T	0.672	0.88650	D	10	0.009911716	0.00222	T	.	.	.	0.280	0.59740	.	.	0.791342778918	0.78940	0.32150059492245986	0.32063	0.0631787556016	0.07030	0.470625162125	0.34766	T	0.00634	0.05774	T	-0.314603	0.07348	T	-0.212358	0.53470	T	0.0367514119437494	0.03112	T	0.623338	0.24021	T	0.13558008	0.31461	0.11903988	0.28733	0.13558008	0.31461	0.11903988	0.28732	-5.48	0.41681	T	.	.	0.118	0.24192	B	.	.	2.776612	0.36460	20.3	0.99566399658400728	0.72136	0.76340	0.37433	D	AEFBI	0.141867	0.26416	N	0.291440255807139	0.55713	3.735498	0.18552157423038	0.49053	3.113237	1.37602646018858E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.77	2.77	0.31614	2.477000	0.44839	2.839000	0.35068	0.618000	0.50648	0.933000	0.32380	0.998000	0.33993	0.918000	0.45347	0.256:0.0:0.744:0.0	8.823	0.34195	472	0.77968	.	.	.	.	.	.	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	0.016616	0.010101	0.017663	0.002924	0.000000	0.025862	0.033537	0.018939	0.02632	1383.33	38	chr2	186837373	.	G	T	1383.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.42;DP=759;ExcessHet=0;FS=2.285;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.98;ReadPosRankSum=-0.26;SOR=0.751	GT:AD:DP:GQ:PL	0/1:70,56:126:99:1397,0,1687	18	0	1	0
chr2	197523648	197523648	T	C	exonic	HSPE1-MOB4;MOB4	.	nonsynonymous SNV	MOB4:NM_015387:exon2:c.T85C:p.S29P,HSPE1-MOB4:NM_001202485:exon3:c.T193C:p.S65P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.267	0.00959765325218	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.265e-05	0.0013	8.89e-05	9.642e-05	0.0001	7.932e-05	7.455e-05	9.055e-05	8.505e-05	3.135e-05	0	0.0001	0	0	0	0.0001	8.651e-05	8.389e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.579	0.08535	T	0.0	0.02946	B	0.001	0.04355	B	0.000000	0.84330	D	0.053972	0.999993	0.81001	D	-1.795	0.00292	N	.	.	.	1.18	0.01107	N	0.438	0.48042	-0.9766	0.35772	T	0.034	0.14813	T	9	0.10651526	0.19742	T	0.009598	0.25107	T	0.267	0.58126	0.341	0.33302	0.043077524339	0.03247	0.669975451478545	0.66935	1.34794577022	0.84014	0.778468906879	0.78697	T	0.055673	0.30073	T	0.0500577	0.58352	T	-0.165872	0.57820	T	0.811242938041687	0.47136	D	0.892711	0.63097	D	0.20700711	0.42893	0.20881961	0.45200	0.20700711	0.42893	0.20881961	0.45199	-0.876	0.00872	T	.	.	0.084	0.09820	B	.;.	.;.	3.297964	0.45264	22.1	0.8980768734361223	0.19119	0.98559	0.84088	D	AEFBI	0.838587	0.75609	D	-0.516315308048682	0.21553	1.144632	-0.200201322439165	0.31530	1.785231	0.986724794269661	0.31114	0.732398	0.92422	0	0.724815	0.89359	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.02	5.02	0.66742	5.652000	0.67632	7.608000	0.61804	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	14.399	0.66596	474	0.77851	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4722	5666.6	35	chr2	197523648	.	T	C	5666.6	.	AC=17;AF=0.472;AN=36;BaseQRankSum=-1.356;DP=1595;ExcessHet=31.086;FS=383.252;InbreedingCoeff=-0.8661;MLEAC=18;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.89;ReadPosRankSum=0.863;SOR=12.723	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:54,19:73:90:.:.:90,0,894:.	1	0	17	1
chr2	200573308	200573308	A	G	exonic	SGO2	.	nonsynonymous SNV	SGO2:NM_001160033:exon7:c.A2962G:p.K988E,SGO2:NM_001160046:exon7:c.A2962G:p.K988E,SGO2:NM_152524:exon7:c.A2962G:p.K988E	.	429	1089	4	0	0	4	0.00183318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.00470223672841	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1464173831	2.752e-06	2.736e-06	4.104e-06	1.384e-06	0.0005	6.4e-07	4.3e-07	0.0001	7.601e-05	0	0	0	0	0	0.0005	9.01e-07	0	0	6.577e-06	6.567e-06	1.286e-05	0	1.473e-05	0	0	.	.	0	0	0	0	0	0	0	1.473e-05	0	0	0.009	0.57480	D	0.036	0.52060	D	0.09	0.25173	B	0.112	0.31615	B	0.105402	0.19660	N	0.429759	1	0.08975	N	.	.	.	2.35	0.16217	T	-1.98	0.45769	N	0.124	0.11626	-1.0738	0.08598	T	0.083	0.32440	T	10	0.08888534	0.15346	T	0.004702	0.11691	T	0.048	0.13305	0.221	0.14371	0.223146558224	0.21909	0.045569509805981824	0.04500	0.111268295074	0.12551	0.330388784409	0.14993	T	0.143089	0.47902	T	-0.196829	0.21263	T	-0.520508	0.20243	T	0.387245297431946	0.28460	T	0.534647	0.17878	T	0.1134047	0.26784	0.12923652	0.31079	0.1134047	0.26783	0.12923652	0.31078	-5.226	0.39205	T	.	.	0.115	0.22861	B	.	.	2.611775	0.33921	19.48	0.9927860650548147	0.57834	0.03484	0.08648	N	AEFGBI	0.051265	0.09041	N	-0.299118318163113	0.29182	1.616073	-0.454824259420877	0.23413	1.276635	1.70184242080096E-4	0.05721	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.18	2.76	0.31527	0.952000	0.28747	3.749000	0.39677	0.691000	0.84096	0.001000	0.13787	0.987000	0.30940	0.404000	0.26872	0.7225:0.1842:0.0933:0.0	5.068	0.13928	714	0.56256	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1183.33	40	chr2	200573308	.	A	G	1183.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.147;DP=904;ExcessHet=0;FS=7.232;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.2;ReadPosRankSum=-1.302;SOR=0.909	GT:AD:DP:GQ:PL	0/1:66,50:116:99:1197,0,1714	18	0	1	0
chr2	202105884	202105884	C	G	exonic	KIAA2012	.	nonsynonymous SNV	KIAA2012:NM_001277372:exon9:c.C1448G:p.A483G,KIAA2012:NM_001367720:exon9:c.C1448G:p.A483G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.0042568437677	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1229689290	2.86e-06	2.736e-06	2.822e-06	2.899e-06	3.707e-06	6.7e-07	4.5e-07	8.7e-07	5.9e-07	0	0	0	0	0	0	3.707e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.33923	T	0.393	0.15355	T	.	.	.	.	.	.	0.459829	0.04863	N	1.359360	1	0.08975	N	.	.	.	.	.	.	-1.44	0.35399	N	0.08	0.05542	-1.0519	0.13872	T	0.038	0.16591	T	9	0.039362103	0.02421	T	0.004257	0.10310	T	0.040	0.10527	0.053	0.00123	0.0138822411134	0.00435	0.08468808868590262	0.08402	.	.	0.196388632059	0.00359	T	0.019254	0.15372	T	-0.30207	0.08465	T	-0.671679	0.07500	T	0.0675791885451325	0.08308	T	0.419458	0.11115	T	0.022515297	0.00919	0.033797167	0.02335	0.022515297	0.00919	0.033797167	0.02334	-3.501	0.16445	T	.	.	0.111	0.24363	B	.;.;.	.;.;.	-0.329332	0.02492	0.292	0.91758900528743126	0.21059	0.02586	0.07142	N	AEFDBI	0.054164	0.09825	N	-1.17599411845026	0.05364	0.244359	-1.27990762888901	0.04703	0.2224347	0.128177581183982	0.17035	0.525926	0.21836	0	0.563428	0.19063	0	0.615948	0.41167	0	0.530356	0.10902	0	.	.	3.68	-1.73	0.07646	-0.973000	0.03908	.	.	-0.187000	0.09635	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1682:0.3262:0.1777:0.3279	0.623	0.00730	377	0.83897	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1696.33	33	chr2	202105884	.	C	G	1696.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.27;DP=789;ExcessHet=0;FS=0.597;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.02;ReadPosRankSum=1.49;SOR=0.628	GT:AD:DP:GQ:PL	0/1:83,71:154:99:1710,0,2059	18	0	1	0
chr2	205047664	205047664	G	A	exonic	PARD3B	.	nonsynonymous SNV	PARD3B:NM_001302769:exon4:c.G478A:p.G160S,PARD3B:NM_057177:exon4:c.G478A:p.G160S,PARD3B:NM_152526:exon4:c.G478A:p.G160S,PARD3B:NM_205863:exon4:c.G478A:p.G160S	.	426	1095	1	0	0	1	0.000456413	.	.	.	3364328	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.074	0.0125300679663	0.0003	0.000199681	0.0002	0	0	0	0	0.0004	0	0.0001	0.0001358	21	154602	rs191906362	0.0002	0.0002	0.0002	0.0002	0.0036	0.0002	0.0002	0.0023	0.0019	0	0.0002	0	0	4.058e-05	0.0036	0.0002	0.0002	1.263e-05	0.0002	0.0002	0.0001	0.0002	0.0004	0.0001	0.0001	0.0002	0.0002	2.406e-05	0	0.0001	0	0	0	0	0.0004	0	0	0.147	0.30656	T	0.746	0.13832	T	0.9	0.49598	P	0.272	0.39956	B	0.004468	0.33710	N	0.283940	0.824745	0.34828	D	1.89	0.50145	L	3.01	0.10871	T	-0.58	0.20791	N	0.098	0.08088	-1.0628	0.11069	T	0.033	0.13986	T	10	0.07620707	0.11875	T	0.01253	0.31184	T	0.074	0.21613	.	.	0.559923220125	0.55653	0.23624498813528982	0.23539	0.022813631958	0.02307	0.348242104053	0.17662	T	0.002677	0.09523	T	-0.36609	0.03797	T	-0.445567	0.28186	T	0.0576817849455271	0.06799	T	0.828517	0.49290	T	0.098250434	0.23172	0.10952739	0.26399	0.098250434	0.23172	0.10952739	0.26399	-2.91	0.09726	T	.	.	0.068	0.04975	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	2.957760	0.39377	20.9	0.99205875230648011	0.55442	0.65239	0.32671	D	AEFDGBHCI	0.472284	0.51747	N	0.0588897243893696	0.44552	2.727195	0.210374177806954	0.50423	3.234433	0.999999999613544	0.74766	0.658043	0.49183	0	0.573888	0.26702	0	0.659943	0.59835	0	0.655142	0.61905	0	.	.	5.57	5.57	0.84021	2.849000	0.47985	3.455000	0.38473	0.676000	0.76740	0.999000	0.42656	1.000000	0.68203	0.934000	0.47231	0.0:0.0:1.0:0.0	16.283	0.82530	891	0.26808	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	6290.83	34	chr2	205047664	.	G	A	6290.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.213;DP=2185;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.29;ReadPosRankSum=0.802;SOR=0.647	GT:AD:DP:GQ:PL	0/1:148,138:286:99:3316,0,3575	17	0	2	0
chr2	206665968	206665968	C	G	exonic	DYTN	.	nonsynonymous SNV	DYTN:NM_001093730:exon10:c.G1042C:p.E348Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	0.00930373434843	.	.	1.658e-05	0	0	0	0	2.998e-05	0	0	1.29e-05	2	154602	rs775532913	2.737e-06	2.736e-06	2.723e-06	2.751e-06	0.0005	6.4e-07	4.3e-07	0.0001	7.541e-05	0	0	0	0	0	0.0005	0	1.656e-05	0	6.573e-06	6.567e-06	1.285e-05	0	6.552e-05	0	0	.	.	0	0	6.552e-05	0	0	0	0	0	0	0	0.005	0.63226	D	0.0	0.92824	D	0.987	0.61912	D	0.755	0.56206	P	.	.	.	.	0.990019	0.24225	N	2.045	0.56016	M	2.16	0.19166	T	-0.76	0.21215	N	0.275	0.31140	-1.0835	0.06683	T	0.055	0.23375	T	9	0.2451607	0.41760	T	0.009304	0.24413	T	0.090	0.26093	0.238	0.16912	0.0297737177859	0.01360	0.20812569252810936	0.20728	0.139407092502	0.15712	0.382192134857	0.22567	T	0.001838	0.01251	T	-0.198391	0.21036	T	-0.439886	0.28820	T	0.610861778259277	0.36835	D	0.535646	0.17968	T	0.13867933	0.32064	0.18826479	0.42106	0.13867933	0.32064	0.18826479	0.42105	-3.626	0.18233	T	.	.	0.115	0.23113	B	.	.	2.822021	0.37176	20.4	0.99605245807894094	0.74456	0.74477	0.36435	D	AEFI	0.138949	0.26039	N	0.0433833647759958	0.43838	2.669037	0.0220358919958373	0.40740	2.436196	0.0187803558019218	0.13095	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.88	4.01	0.45821	0.664000	0.24749	0.669000	0.20577	0.599000	0.40250	0.988000	0.36536	0.281000	0.24108	0.076000	0.17014	0.0:0.9004:0.0:0.0996	9.052	0.35545	828	0.39726	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1814.33	37	chr2	206665968	.	C	G	1814.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.463;DP=800;ExcessHet=0;FS=2.964;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.26;ReadPosRankSum=-0.205;SOR=0.96	GT:AD:DP:GQ:PL	0/1:76,72:148:99:1828,0,2028	18	0	1	0
chr2	208124234	208124234	T	C	exonic	CRYGD	.	nonsynonymous SNV	CRYGD:NM_006891:exon2:c.A130G:p.M44V	Cataract 4, multiple types, Autosomal dominant	2	1500	18	2	0	22	0.00727995	.	.	.	284994	Cataract_4_multiple_types|Aculeiform_cataract|not_provided	MONDO:MONDO:0007281,MedGen:C3540850,OMIM:115700,Orphanet:1377|Human_Phenotype_Ontology:HP:0010926,MedGen:C1861832|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.135	.	.	0.00599042	0.0082	0.0054	0.0048	0.0019	0.0084	0.0107	0.0040	0.0057	0.0072509	1121	154602	rs61731517	0.0080	0.0081	0.0080	0.0079	0.0093	0.0078	0.0078	0.0080	0.0080	0.0056	0.0064	0.0237	0.0010	0.0074	0.0093	0.0082	0.0086	0.0051	0.0082	0.0082	0.0081	0.0082	0.0101	0.0078	0.0076	0.0088	0.0083	0.0063	0.0044	0.0101	0.0285	0.0029	0.0081	0.0034	0.0085	0.0090	0.0046	0.37	0.11550	T	1.0	0.01155	T	0.063	0.23376	B	0.105	0.31087	B	0.000000	0.84330	D	0.000000	0.995086	0.42537	D	-0.545	0.02503	N	-0.52	0.70717	T	-1.63	0.39119	N	0.146	0.14763	-0.9761	0.35882	T	0.097	0.36367	T	10	0.00966838	0.00218	T	.	.	.	0.135	0.36572	.	.	0.651456268764	0.64855	0.6244178123042705	0.62374	0.307753395875	0.33067	0.404888302088	0.25748	T	0.199616	0.55695	T	-0.409854	0.01992	T	-0.355248	0.38603	T	0.0163154748330445	0.00402	T	.	.	.	0.6777895	0.76850	0.28431818	0.54430	0.6777895	0.76852	0.28431818	0.54429	-4.081	0.25009	T	.	.	0.169	0.37121	B	.	.	2.841034	0.37485	20.5	0.96681134562736515	0.30701	0.87236	0.46715	D	AEFBI	0.283239	0.39639	N	-0.350088478121713	0.27269	1.49475	-0.167784692447453	0.32730	1.864983	0.991294669232677	0.32439	0.72623	0.87236	0	0.563428	0.19063	0	0.594344	0.31042	0	0.63947	0.58350	0	.	.	4.35	4.35	0.51454	1.336000	0.33455	5.595000	0.49008	0.519000	0.23678	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	11.530	0.49853	870	0.31527	Beta/gamma crystallin|Beta/gamma crystallin|Beta/gamma crystallin|Beta/gamma crystallin	.	.	.	.	.	Likely benign	0	0	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	0.009212	0.010101	0.009511	0.022152	0.000000	0.017544	0.009146	0.015385	0.02632	1125.33	33	chr2	208124234	.	T	C	1125.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.59;DP=711;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=52.18;MQRankSum=-6.509;QD=14.43;ReadPosRankSum=1.77;SOR=0.627	GT:AD:DP:GQ:PL	0/1:37,41:78:99:1139,0,967	18	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	0.02632	1211.33	33	chr2	217847726	.	T	G	1211.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.11;DP=993;ExcessHet=0;FS=0.871;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.37;ReadPosRankSum=-0.186;SOR=0.582	GT:AD:DP:GQ:PL	0/1:32,42:74:99:1225,0,797	18	0	1	0
chr2	218642927	218642927	C	A	exonic	ZNF142	.	nonsynonymous SNV	ZNF142:NM_001366291:exon7:c.G3589T:p.V1197L,ZNF142:NM_001105537:exon8:c.G3589T:p.V1197L,ZNF142:NM_001366290:exon8:c.G4189T:p.V1397L,ZNF142:NM_001379662:exon8:c.G3589T:p.V1197L,ZNF142:NM_001366287:exon9:c.G3100T:p.V1034L,ZNF142:NM_001366288:exon9:c.G3100T:p.V1034L,ZNF142:NM_001366289:exon9:c.G3100T:p.V1034L,ZNF142:NM_001379659:exon9:c.G4189T:p.V1397L,ZNF142:NM_001379660:exon9:c.G4189T:p.V1397L,ZNF142:NM_001379661:exon9:c.G4189T:p.V1397L	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.011321708429	.	0.000199681	0.0002	0	0	0	0	0.0002	0.0011	0.0003	0.0001358	21	154602	rs528176678	7.391e-05	7.388e-05	5.447e-05	9.354e-05	0.0014	6.25e-05	5.809e-05	0.0007	0.0005	0	4.472e-05	0	0	0	0.0014	5.756e-05	6.625e-05	0.0003	9.189e-05	9.186e-05	0.0001	8.053e-05	0.0006	5.522e-05	4.36e-05	0.0002	8.981e-05	2.404e-05	0	0	0	0	0	0	0.0001	0	0.0006	0.102	0.30235	T	0.175	0.29945	T	0.998	0.73220	D	0.995	0.83170	D	0.000048	0.53742	D	0.123897	0.999934	0.51612	D	0.91	0.23283	L	2.23	0.18083	T	-1.43	0.35194	N	0.28	0.31925	-1.1112	0.02968	T	0.090	0.34463	T	10	0.1623554	0.30429	T	0.011322	0.28825	T	0.124	0.34239	0.267	0.21418	0.594932130068	0.59170	0.1976109155608916	0.19678	0.249377360343	0.27514	0.579116880894	0.49962	T	0.019491	0.15519	T	-0.391301	0.02638	T	-0.495306	0.22836	T	0.100378014147282	0.12400	T	0.80342	0.45053	T	0.22051325	0.44609	0.14124267	0.33642	0.22051325	0.44609	0.14124267	0.33641	-1.302	0.01404	T	.	.	0.164	0.43626	B	.;.	.;.	3.592578	0.50700	23.0	0.99800145007557006	0.88461	0.94098	0.60106	D	AEFBCI	0.518578	0.54422	D	0.59764038758236	0.73026	5.899493	0.605978664450885	0.75372	6.299147	0.999999998549457	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.635551	0.53088	0	.	.	5.22	5.22	0.72285	3.904000	0.56038	4.926000	0.46086	0.599000	0.40250	0.987000	0.36337	1.000000	0.68203	0.960000	0.51673	0.0:1.0:0.0:0.0	18.977	0.92714	917	0.20147	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	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1531.33	34	chr2	218642927	.	C	A	1531.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.06;DP=839;ExcessHet=0;FS=3.492;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.98;ReadPosRankSum=-1.582;SOR=0.44	GT:AD:DP:GQ:PL	0/1:62,56:118:99:1545,0,1630	18	0	1	0
chr2	218693763	218693763	G	A	exonic	STK36	.	nonsynonymous SNV	STK36:NM_001243313:exon18:c.G2189A:p.R730H,STK36:NM_001369423:exon18:c.G2189A:p.R730H,STK36:NM_015690:exon18:c.G2189A:p.R730H	.	.	.	.	.	.	.	.	.	.	.	2362780	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.213	0.00674137158073	.	.	0.0001	0	0.0004	0.0002	0	5.996e-05	0	0.0001	0.00011	17	154602	rs373669832	7.32e-05	7.388e-05	8.44e-05	6.188e-05	0.0002	6.181e-05	5.742e-05	0.0001	7.816e-05	2.987e-05	0.0002	0	0.0002	0	0	6.565e-05	0.0001	0.0001	5.908e-05	5.906e-05	5.138e-05	6.713e-05	0.0004	3.075e-05	2.208e-05	6.828e-05	2.857e-05	2.405e-05	0	6.537e-05	0	0.0004	0	0	5.88e-05	0.0005	0	0.735	0.03972	T	0.407	0.21678	T	0.0	0.02946	B	0.0	0.01387	B	0.927019	0.07511	N	1.045340	1	0.08975	N	-0.315	0.03579	N	-0.51	0.70597	T	-0.46	0.14978	N	0.067	0.04307	-1.0136	0.25784	T	0.152	0.48049	T	10	0.026168853	0.00790	T	0.006741	0.17812	T	0.213	0.50496	.	.	0.37953744168	0.37561	0.20031925113775598	0.19948	0.210335235867	0.23523	0.199034526944	0.00429	T	0.110772	0.42573	T	-0.467203	0.00885	T	-0.600014	0.12810	T	0.00898006482702581	0.00112	T	0.411359	0.10665	T	0.018350232	0.00356	0.04054289	0.04406	0.018350232	0.00356	0.04054289	0.04405	-4.402	0.29585	T	.	.	0.059	0.00820	B	.;.;.	.;.;.	-0.013368	0.04192	1.017	0.34503902151796523	0.02114	0.00449	0.02181	N	AEFBI	0.028726	0.02584	N	-1.34898596978334	0.03136	0.1395791	-1.34921880089931	0.03815	0.1787245	0.75531355058824	0.23424	0.651	0.46895	0	0.601575	0.49859	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	4.96	-5.19	0.02616	-0.561000	0.06048	-2.044000	0.04297	-0.667000	0.04321	0.000000	0.06391	0.000000	0.08366	0.047000	0.14932	0.8517:0.0:0.1483:0.0	17.058	0.86415	809	0.43032	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001007	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	905.33	34	chr2	218693763	.	G	A	905.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.73;DP=681;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.61;ReadPosRankSum=-1.217;SOR=0.689	GT:AD:DP:GQ:PL	0/1:25,33:58:99:919,0,550	18	0	1	0
chr2	219236371	219236371	T	C	exonic	ANKZF1	.	nonsynonymous SNV	ANKZF1:NM_001282792:exon11:c.T1477C:p.Y493H,ANKZF1:NM_001042410:exon14:c.T2107C:p.Y703H,ANKZF1:NM_018089:exon14:c.T2107C:p.Y703H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.925	0.361500649458	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.004	0.74150	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.005	0.85968	M	-3.82	0.95761	D	-2.89	0.69950	D	0.819	0.81857	1.051	0.98137	D	0.927	0.97574	D	10	0.8701224	0.86274	D	0.361501	0.92523	D	0.925	0.98154	0.673	0.81101	0.98744551425	0.98730	0.68002420286849	0.67941	0.609113261058	0.55654	0.677169024944	0.63863	T	0.201739	0.55970	T	0.534946	0.95310	D	0.530636	0.95241	D	0.989032485938325	0.79299	D	0.89841	0.64469	D	0.6724671	0.76565	0.6477056	0.79397	0.6724671	0.76567	0.6477056	0.79397	-8.233	0.62647	D	.	.	0.759	0.75447	P	.;.;.	.;.;.	4.789933	0.77721	26.8	0.99836360439065608	0.91714	0.95565	0.65228	D	AEFBCI	0.833712	0.75188	D	0.835928166814104	0.88292	9.524219	0.78839980932342	0.88977	9.789	0.999999994731815	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.38	5.38	0.77279	7.029000	0.76210	6.131000	0.53917	0.660000	0.55035	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	15.566	0.76036	550	0.72197	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1675.33	38	chr2	219236371	.	T	C	1675.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.905;DP=855;ExcessHet=0;FS=1.297;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.4;ReadPosRankSum=-0.182;SOR=0.84	GT:AD:DP:GQ:PL	0/1:76,71:147:99:1689,0,1953	18	0	1	0
chr2	221501139	221501139	G	A	exonic	EPHA4	.	nonsynonymous SNV	EPHA4:NM_001304537:exon3:c.C704T:p.T235M,EPHA4:NM_001363748:exon4:c.C857T:p.T286M,EPHA4:NM_004438:exon4:c.C857T:p.T286M,EPHA4:NM_001304536:exon5:c.C857T:p.T286M	.	430	1088	3	1	0	5	0.00229253	.	.	.	733214	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.125	0.0181169551908	0.0002	.	0.0004	0	0.0032	0	0	0.0001	0	0.0002	0.0003234	50	154602	rs200225096	0.0002	0.0002	0.0002	0.0002	0.0027	0.0002	0.0002	0.0023	0.0021	5.993e-05	0.0027	0.0001	0.0001	1.873e-05	0.0002	9.72e-05	0.0003	0.0004	0.0002	0.0002	0.0002	0.0002	0.0007	0.0001	0.0001	0.0004	0.0003	9.655e-05	0	0.0007	0.0003	0	0	0	0.0001	0.0005	0.0002	0.042	0.42783	D	0.028	0.55759	D	0.079	0.24468	B	0.009	0.14300	B	0.000000	0.84330	D	0.046113	0.999951	0.52935	D	1.26	0.31868	L	-0.08	0.63911	T	-0.95	0.25332	N	0.55	0.57690	-0.8782	0.49903	T	0.197	0.55244	T	10	0.018712014	0.00410	T	0.018117	0.40075	T	0.125	0.34456	.	.	0.429810549338	0.42601	0.41733634977744494	0.41649	0.886143667092	0.70005	0.685169517994	0.65012	T	0.096663	0.39870	T	-0.392512	0.02591	T	-0.340271	0.40313	T	0.0589616004721113	0.07004	T	0.762924	0.38892	T	0.21248867	0.43601	0.30254707	0.56286	0.23636903	0.46486	0.30908626	0.56924	-8.466	0.64204	D	0.26884779653703217	0.36199	0.103	0.20780	B	.;.;.	.;.;.	3.437079	0.47799	22.5	0.99453550964473258	0.65427	0.98011	0.78855	D	AEFBIJ	0.879558	0.80560	D	0.206555877620935	0.51515	3.332231	0.420839940345221	0.62864	4.509386	0.999999994002853	0.74766	0.50712	0.20391	0	0.573888	0.26702	0	0.658983	0.55881	0	0.635259	0.50027	0	.	.	6.07	6.07	0.98675	7.709000	0.83610	5.931000	0.51320	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	20.644	0.99572	863	0.32847	Tyrosine-protein kinase ephrin type A/B receptor-like;Tyrosine-protein kinase ephrin type A/B receptor-like;Tyrosine-protein kinase ephrin type A/B receptor-like	.	.	.	.	.	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	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1391.33	34	chr2	221501139	.	G	A	1391.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.169;DP=754;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.59;ReadPosRankSum=1.49;SOR=0.678	GT:AD:DP:GQ:PL	0/1:63,57:120:99:1405,0,1622	18	0	1	0
chr2	229859051	229859051	C	T	exonic	TRIP12	.	nonsynonymous SNV	TRIP12:NM_001284215:exon3:c.G622A:p.A208T,TRIP12:NM_001348316:exon3:c.G622A:p.A208T,TRIP12:NM_001348317:exon3:c.G622A:p.A208T,TRIP12:NM_001348318:exon3:c.G622A:p.A208T,TRIP12:NM_001348331:exon3:c.G622A:p.A208T,TRIP12:NM_004238:exon3:c.G622A:p.A208T,TRIP12:NM_001284214:exon4:c.G748A:p.A250T,TRIP12:NM_001348315:exon4:c.G748A:p.A250T,TRIP12:NM_001348319:exon4:c.G748A:p.A250T,TRIP12:NM_001348320:exon4:c.G748A:p.A250T,TRIP12:NM_001348321:exon4:c.G748A:p.A250T,TRIP12:NM_001348323:exon4:c.G748A:p.A250T,TRIP12:NM_001348324:exon4:c.G748A:p.A250T,TRIP12:NM_001348326:exon4:c.G748A:p.A250T,TRIP12:NM_001348327:exon4:c.G748A:p.A250T,TRIP12:NM_001348328:exon4:c.G748A:p.A250T,TRIP12:NM_001348329:exon4:c.G748A:p.A250T,TRIP12:NM_001348330:exon4:c.G748A:p.A250T,TRIP12:NM_001348332:exon4:c.G748A:p.A250T,TRIP12:NM_001348333:exon4:c.G748A:p.A250T,TRIP12:NM_001348334:exon4:c.G748A:p.A250T,TRIP12:NM_001348335:exon4:c.G748A:p.A250T,TRIP12:NM_001348336:exon4:c.G748A:p.A250T,TRIP12:NM_001348322:exon5:c.G748A:p.A250T,TRIP12:NM_001348325:exon5:c.G748A:p.A250T	.	419	1097	4	2	0	8	0.00363306	.	.	.	1333025	not_provided|Clark-Baraitser_syndrome|Inborn_genetic_diseases	MedGen:C3661900|MONDO:MONDO:0030914,MedGen:C2931130,OMIM:617752,Orphanet:600731|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.037	0.00805348452219	.	0.000199681	0.0001	0	0	0	0	1.499e-05	0	0.0009	0.0001229	19	154602	rs539119124	9.645e-05	9.645e-05	5.717e-05	0.0001	0.0012	8.309e-05	7.849e-05	0.0010	0.0009	0	0	0	0	0	0.0007	2.428e-05	0.0001	0.0012	3.94e-05	3.937e-05	1.285e-05	6.715e-05	0.0010	1.715e-05	1.129e-05	0.0004	0.0003	0	0	0	0	0	0	0	1.47e-05	0	0.0010	0.152	0.34800	T	0.356	0.26631	T	0.0	0.02946	B	0.0	0.01387	B	0.000873	0.41335	N	0.165039	0.993204	0.81001	D	0.345	0.11182	N	0.78	0.49358	T	0.18	0.34795	N	0.131	0.15888	-1.0834	0.06702	T	0.068	0.27980	T	10	0.020144016	0.00459	T	0.008053	0.21342	T	0.037	0.09474	0.196	0.10839	0.280695755116	0.27685	0.09470516669658194	0.09402	0.651620842457	0.58389	0.53727221489	0.44061	T	0.020514	0.16136	T	-0.440874	0.01278	T	-0.46241	0.26338	T	0.0455157934942267	0.04695	T	0.828317	0.52334	T	0.028537812	0.02207	0.05179657	0.08407	0.02893089	0.02306	0.065473944	0.13273	-3.625	0.18715	T	.	.	0.071	0.04396	B	.;.;.;.	.;.;.;.	2.529308	0.32697	19.12	0.99886402022613341	0.96126	0.92744	0.56440	D	AEFBI	0.316424	0.42072	N	-0.361360500236459	0.26857	1.469012	-0.145114360072523	0.33595	1.923458	0.999575408551533	0.40495	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.72	4.71	0.59010	1.817000	0.38640	2.554000	0.33279	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.8975:0.0:0.1025	12.058	0.52846	876	0.30350	.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1044.33	35	chr2	229859051	.	C	T	1044.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.457;DP=707;ExcessHet=0;FS=6.671;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.35;ReadPosRankSum=-0.595;SOR=1.112	GT:AD:DP:GQ:PL	0/1:49,43:92:99:1058,0,1377	18	0	1	0
chr2	232847517	232847517	A	0	exonic	GIGYF2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4211	7129.64	35	chr2	232847517	.	A	*	7129.64	.	AC=16;AF=0.421;AN=38;BaseQRankSum=-0.589;DP=2245;ExcessHet=1.0106;FS=0.551;InbreedingCoeff=0.0526;MLEAC=16;MLEAF=0.421;MQ=60;MQRankSum=0;QD=3.69;ReadPosRankSum=0.451;SOR=0.748	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:80,72:152:99:0|1:232847516_CACA_C:2547,0,3102:232847516	6	3	10	0
chr2	236264149	236264149	A	G	exonic	ASB18	.	nonsynonymous SNV	ASB18:NM_212556:exon1:c.T197C:p.M66T	.	.	.	.	.	.	.	.	.	.	.	3586829	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.036	0.0058301559913	.	.	8.467e-06	0	0	0	0	1.525e-05	0	0	6.5e-06	1	154602	rs771980462	1.026e-05	1.026e-05	9.531e-06	1.1e-05	0.0007	6.16e-06	4.89e-06	0.0002	0.0001	0	0	0	0	0	0.0007	7.195e-06	4.969e-05	0	1.97e-05	1.968e-05	2.57e-05	1.343e-05	1.47e-05	5.24e-06	2.45e-06	.	.	0	0	0	0	0	0	0.0034	1.47e-05	0.0005	0	0.014	0.53172	D	0.014	0.62352	D	0.033	0.20350	B	0.01	0.14941	B	.	.	.	.	0.999675	0.20721	N	0	0.06538	N	1.26	0.43672	T	-1.77	0.41809	N	0.256	0.28965	-1.0904	0.05466	T	0.050	0.21222	T	9	0.12686566	0.24121	T	0.00583	0.15161	T	0.036	0.09122	0.506	0.60078	0.137902524267	0.13322	0.33854810276045066	0.33767	0.0591035602444	0.06565	0.313485145569	0.12434	T	0.040269	0.25469	T	-0.20444	0.20168	T	-0.53144	0.19143	T	0.118695330392843	0.14302	T	0.40286	0.10299	T	0.17163414	0.37808	0.2236528	0.47251	0.17163414	0.37807	0.2236528	0.47250	-1.901	0.02828	T	.	.	0.165	0.36416	B	.;.	.;.	0.938190	0.13140	9.639	0.945544020589971	0.25073	0.38880	0.26088	N	AEFBI	0.067403	0.13248	N	-0.756524041802822	0.14457	0.7202736	-0.648426551962563	0.18256	0.9744646	0.999701466932849	0.41986	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.19	1.24	0.20416	0.746000	0.25942	-0.368000	0.09627	0.691000	0.84096	0.812000	0.29879	0.000000	0.08366	0.333000	0.25271	0.8467:0.0:0.1533:0.0	9.628	0.38928	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	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1145.33	41	chr2	236264149	.	A	G	1145.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.299;DP=737;ExcessHet=0;FS=6.298;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.69;ReadPosRankSum=-2.086;SOR=1.465	GT:AD:DP:GQ:PL	0/1:52,46:98:99:1159,0,1422	18	0	1	0
chr2	238130423	238130423	C	T	exonic	ESPNL	.	nonsynonymous SNV	ESPNL:NM_001308370:exon4:c.C605T:p.A202V,ESPNL:NM_194312:exon9:c.C1709T:p.A570V	.	428	1090	4	0	0	4	0.0018315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.0229322685702	.	0.000399361	5.425e-05	0	0.0002	0	0	5.913e-05	0	0	6.47e-05	10	154602	rs548689443	5.359e-05	5.609e-05	4.783e-05	5.942e-05	0.0002	4.363e-05	4.035e-05	4.273e-05	3.844e-05	0	4.535e-05	0	7.607e-05	3.889e-05	0.0002	5.406e-05	4.993e-05	8.201e-05	5.255e-05	5.25e-05	6.427e-05	4.031e-05	0.0003	2.557e-05	1.83e-05	8.868e-05	5.28e-05	2.407e-05	0	0.0003	0	0	0	0	4.413e-05	0	0	0.23	0.18626	T	0.181	0.29346	T	0.006	0.15914	B	0.003	0.12133	B	.	.	.	.	1	0.08975	N	0	0.06538	N	-0.06	0.63568	T	-0.46	0.20145	N	0.07	0.04307	-1.0498	0.14453	T	0.086	0.33354	T	9	0.021183103	0.00502	T	0.022932	0.45860	T	0.041	0.10877	.	.	0.0551355673512	0.04727	0.024275579551919734	0.02378	0.120064589103	0.13520	0.439498960972	0.30508	T	0.001332	0.00808	T	-0.360208	0.04118	T	-0.529489	0.19337	T	0.0262936742965941	0.01445	T	0.49745	0.15470	T	0.027279178	0.01897	0.03319585	0.02174	0.027279178	0.01897	0.03319585	0.02174	-4.756	0.35042	T	.	.	0.077	0.11366	B	.;.;.	.;.;.	-0.949766	0.00845	0.029	0.90594287968749887	0.19848	0.01644	0.05287	N	AEFBI	0.058092	0.10874	N	-1.33676403467122	0.03264	0.1455108	-1.43082254047335	0.02948	0.1366132	0.914785047855133	0.26464	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	3.37	-4.7	0.03051	-2.696000	0.00898	0.000000	0.13247	-0.267000	0.06790	0.000000	0.06391	0.176000	0.23382	0.000000	0.00833	0.1421:0.307:0.2815:0.2693	1.085	0.01549	969	0.06854	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	339.33	76	chr2	238130423	.	C	T	339.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.215;DP=955;ExcessHet=0;FS=4.603;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.08;ReadPosRankSum=-0.538;SOR=0.494	GT:AD:DP:GQ:PL	0/1:27,15:42:99:353,0,739	18	0	1	0
chr2	238140785	238140785	C	T	exonic	KLHL30	.	nonsynonymous SNV	KLHL30:NM_198582:exon2:c.C31T:p.H11Y	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.0202634953554	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	0.011272	0.29595	N	0.402778	1	0.81001	D	1.125	0.28843	L	-0.5	0.70480	T	-0.79	0.21860	N	0.172	0.18376	-0.8674	0.50724	T	0.170	0.51117	T	8	0.17817274	0.32889	T	0.020263	0.42817	T	0.082	0.23913	0.294	0.25720	0.775984134536	0.77392	0.316846618741447	0.31597	0.220734750985	0.24623	0.392889857292	0.24076	T	0.007164	0.06575	T	-0.122723	0.32679	T	-0.41406	0.31758	T	0.163351521280267	0.18116	T	0.874313	0.58483	D	0.095375724	0.22444	0.110189	0.26567	0.095375724	0.22443	0.110189	0.26567	-4.233	0.27226	T	.	.	0.075	0.05317	B	.	.	1.482242	0.19077	14.08	0.76632981561082403	0.11547	0.69808	0.34335	D	AEFBI	0.237178	0.35951	N	0.0724613863230069	0.45181	2.778995	0.194478210852926	0.49545	3.156321	0.999999997836029	0.74766	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.75	4.77	0.60425	2.707000	0.46812	0.737000	0.21131	0.599000	0.40250	1.000000	0.71638	0.234000	0.23804	0.898000	0.43474	0.0:0.7157:0.0:0.2843	4.577	0.11631	969	0.06854	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	734.33	37	chr2	238140785	.	C	T	734.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.282;DP=689;ExcessHet=0;FS=3.944;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.6;ReadPosRankSum=0.373;SOR=0.287	GT:AD:DP:GQ:PL	0/1:28,26:54:99:748,0,792	18	0	1	0
chr2	240761338	240761338	G	A	exonic	KIF1A	.	nonsynonymous SNV	KIF1A:NM_001379632:exon23:c.C2129T:p.A710V,KIF1A:NM_001379633:exon23:c.C2129T:p.A710V,KIF1A:NM_001379636:exon23:c.C2129T:p.A710V,KIF1A:NM_001379637:exon23:c.C2204T:p.A735V,KIF1A:NM_001379639:exon23:c.C2129T:p.A710V,KIF1A:NM_001379640:exon23:c.C2129T:p.A710V,KIF1A:NM_001379641:exon23:c.C2129T:p.A710V,KIF1A:NM_001379642:exon23:c.C2129T:p.A710V,KIF1A:NM_001379645:exon23:c.C2129T:p.A710V,KIF1A:NM_001379648:exon23:c.C2204T:p.A735V,KIF1A:NM_001379649:exon23:c.C2129T:p.A710V,KIF1A:NM_001379650:exon23:c.C2129T:p.A710V,KIF1A:NM_001379651:exon23:c.C2129T:p.A710V,KIF1A:NM_001379653:exon23:c.C2129T:p.A710V,KIF1A:NM_004321:exon23:c.C2129T:p.A710V,KIF1A:NM_001244008:exon24:c.C2156T:p.A719V,KIF1A:NM_001320705:exon24:c.C2156T:p.A719V,KIF1A:NM_001330289:exon24:c.C2156T:p.A719V,KIF1A:NM_001330290:exon24:c.C2231T:p.A744V,KIF1A:NM_001379631:exon24:c.C2231T:p.A744V,KIF1A:NM_001379634:exon24:c.C2231T:p.A744V,KIF1A:NM_001379635:exon24:c.C2231T:p.A744V,KIF1A:NM_001379638:exon24:c.C2156T:p.A719V,KIF1A:NM_001379646:exon24:c.C2231T:p.A744V	Mental retardation, autosomal dominant 9, Autosomal dominant;Neuropathy, hereditary sensory, type IIC, Autosomal recessive;Spastic paraplegia 30, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1886846	Hereditary_spastic_paraplegia_30|Neuropathy,_hereditary_sensory,_type_2C|Intellectual_disability,_autosomal_dominant_9	MONDO:MONDO:0012476,MedGen:C5235139,OMIM:610357,Orphanet:101010|MONDO:MONDO:0013634,MedGen:C3280168,OMIM:614213,Orphanet:970|MONDO:MONDO:0013656,MedGen:C5393830,OMIM:614255,Orphanet:662367	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.125	0.0994101438901	8e-05	.	1.689e-05	0.0001	0	0	0	1.522e-05	0	0	1.29e-05	2	154602	rs373868831	2.053e-06	2.052e-06	0	4.128e-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	6.568e-06	6.566e-06	1.284e-05	0	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.158	0.24372	T	0.401	0.14961	T	0.115	0.26429	B	0.105	0.31087	B	0.032204	0.25061	U	0.359742	1	0.81001	D	2.14	0.59869	M	-0.71	0.72889	T	-3.27	0.66436	D	0.514	0.54496	-0.6105	0.64382	T	0.297	0.66830	T	10	0.3130065	0.48756	T	0.09941	0.77103	D	0.125	0.34456	.	.	0.548741273365	0.54530	0.7493970559125758	0.74886	0.494919414214	0.48041	0.824671506882	0.85745	D	0.574425	0.85962	D	-0.147194	0.28751	T	-0.267064	0.48116	T	0.73923659324646	0.42696	D	0.981902	0.93870	D	0.33426064	0.55818	0.20144396	0.44124	0.33426064	0.55818	0.20144396	0.44123	-10.321	0.76744	D	0.17169803677073445	0.21656	0.879	0.86575	P	.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.	4.121079	0.61598	24.4	0.99814702363930397	0.89797	0.77950	0.38389	D	AEFBCI	0.599141	0.59227	D	0.0224895298074672	0.42879	2.591962	0.171391335708819	0.48286	3.046613	0.999668752195653	0.41534	0.67177	0.52595	0	0.588015	0.36545	0	0.702456	0.68683	0	0.562822	0.20929	0	.	.	5.05	5.05	0.67566	3.097000	0.49943	11.626000	0.93661	0.642000	0.52262	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.0:0.1446:0.8554:0.0	14.834	0.69800	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	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	1307.33	33	chr2	240761338	.	G	A	1307.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.595;DP=781;ExcessHet=0;FS=0.682;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.54;ReadPosRankSum=1.39;SOR=0.594	GT:AD:DP:GQ:PL	0/1:71,53:124:99:1321,0,1920	18	0	1	0
chr2	240891751	240891751	G	A	exonic	MAB21L4	.	nonsynonymous SNV	MAB21L4:NM_001085437:exon2:c.C527T:p.A176V,MAB21L4:NM_001282921:exon2:c.C80T:p.A27V,MAB21L4:NM_024861:exon2:c.C23T:p.A8V	.	419	1089	14	0	0	14	0.00638686	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.0108186377131	0.0005	0.000998403	0.0009	0.0016	0.0007	0	0	0.0007	0.0034	0.0022	0.0007568	117	154602	rs201604905	0.0005	0.0005	0.0004	0.0006	0.0059	0.0005	0.0005	0.0043	0.0038	0.0011	0.0003	0.0028	5.042e-05	0	0.0059	0.0003	0.0010	0.0025	0.0008	0.0008	0.0008	0.0007	0.0016	0.0007	0.0006	0.0013	0.0012	0.0016	0	0.0004	0.0017	0.0002	0	0.0034	0.0004	0.0009	0.0012	0.103	0.31682	T	0.164	0.33442	T	0.078	0.24389	B	0.012	0.16460	B	0.011502	0.29503	N	0.234705	1	0.08975	N	.	.	.	2.59	0.13317	T	-1.77	0.41809	N	0.137	0.13484	-1.0287	0.20876	T	0.024	0.10419	T	10	0.0045983195	0.00096	T	0.010819	0.27789	T	0.021	0.04004	.	.	0.0138822411134	0.00435	0.35883695406420824	0.35797	0.0728121074558	0.08157	.	.	.	0.026109	0.19387	T	-0.607646	0.00131	T	-0.651476	0.08851	T	0.00406787252061537	0.00043	T	0.654235	0.26653	T	0.03601277	0.04350	0.046702866	0.06566	0.03601277	0.04350	0.046702866	0.06566	-2.855	0.08701	T	.	.	0.119	0.29941	B	.;.;.	.;.;.	0.580636	0.09490	6.269	0.93161620481933205	0.22814	0.03500	0.08672	N	AEFDBI	0.050115	0.08728	N	-1.03396349406728	0.07906	0.3688617	-1.09987671852482	0.07703	0.3757531	0.745550986779005	0.23279	0.554377	0.28877	0	0.588066	0.40923	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	4.24	0.325	0.15145	-0.372000	0.07559	-0.121000	0.11721	-0.181000	0.10308	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.4148:0.0:0.5852:0.0	6.846	0.23169	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	0.001511	0.000000	0.001359	0.005848	0.000000	0.000000	0.000000	0.003788	0.02632	1469.33	99	chr2	240891751	.	G	A	1469.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.877;DP=1251;ExcessHet=0;FS=1.488;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.35;ReadPosRankSum=0.158;SOR=0.542	GT:AD:DP:GQ:PL	0/1:54,65:119:99:1483,0,1438	18	0	1	0
chr2	241872550	241872550	C	T	exonic	RTP5	.	nonsynonymous SNV	RTP5:NM_173821:exon2:c.C995T:p.S332L	.	397	1124	1	0	0	1	0.000444642	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	.	0.0006	0.00239617	0.0029	0.0010	0.0226	0.0031	0	0.0001	0.0052	0.0015	0.0023609	365	154602	rs150144782	0.0009	0.0010	0.0010	0.0009	0.0179	0.0009	0.0009	0.0168	0.0163	0.0006	0.0179	0	0.0129	1.984e-05	0.0005	3.328e-05	0.0011	0.0010	0.0014	0.0014	0.0015	0.0013	0.0084	0.0012	0.0012	0.0072	0.0067	0.0008	0	0.0084	0	0.0066	0	0	0.0001	0.0019	0.0014	0.475	0.08359	T	0.077	0.42436	T	0.056	0.22806	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	-0.205	0.04094	N	1.95	0.22474	T	-0.61	0.18042	N	0.083	0.05929	-0.9980	0.30479	T	0.015	0.06138	T	9	0.003286928	0.00056	T	.	.	.	0.034	0.08419	.	.	0.194818534648	0.19098	0.27407093509427777	0.27320	0.153113182787	0.17276	0.234416991472	0.02310	T	0.005537	0.04992	T	-0.645387	0.00077	T	-0.683574	0.06768	T	0.00184077770157933	0.00019	T	0.456654	0.13107	T	0.025799619	0.01559	0.038967036	0.03882	0.025799619	0.01558	0.038967036	0.03881	-2.025	0.03277	T	.	.	0.112	0.22024	B	.	.	-0.061873	0.03875	0.843	0.76107293355401406	0.11336	0.01343	0.04616	N	AEFGBHCI	0.019495	0.00682	N	-1.6158189996282	0.01187	0.05162187	-1.7278871718766	0.01019	0.04570946	0.999974649317057	0.50053	0.533608	0.22052	0	0.61073	0.52368	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	2.84	-5.69	0.02233	-1.302000	0.02854	-3.929000	0.02446	-0.281000	0.06419	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.1764:0.2554:0.5682	6.731	0.22573	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	.	.	.	.	.	.	.	.	0.02632	2296.33	35	chr2	241872550	.	C	T	2296.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.89;DP=932;ExcessHet=0;FS=6.463;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.12;ReadPosRankSum=-2.052;SOR=1.135	GT:AD:DP:GQ:PL	0/1:94,81:175:99:2310,0,2381	18	0	1	0
chr3	3147503	3147503	G	C	exonic	TRNT1	.	nonsynonymous SNV	TRNT1:NM_001302946:exon7:c.G796C:p.D266H,TRNT1:NM_001367321:exon7:c.G856C:p.D286H,TRNT1:NM_001367322:exon7:c.G856C:p.D286H,TRNT1:NM_001367323:exon7:c.G856C:p.D286H,TRNT1:NM_182916:exon7:c.G856C:p.D286H	Retinitis pigmentosa and erythrocytic microcytosis, Autosomal recessive;Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, Autosomal recessive	0	225	0	1	0	2	0.00442478	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.002564598782	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.84e-07	1.362e-06	0	2.521e-05	0	0	.	.	0	0	0	2.521e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.174	0.22486	T	0.176	0.29843	T	0.0	0.02946	B	0.001	0.06944	B	0.372219	0.13510	N	0.746656	0.952106	0.29495	N	-0.115	0.04602	N	0.89	0.45636	T	-0.95	0.25332	N	0.083	0.12055	-1.0725	0.08873	T	0.049	0.21065	T	10	0.11585188	0.21838	T	0.002565	0.05150	T	0.047	0.12962	0.426	0.47185	0.416202232284	0.41236	0.5235179385488519	0.52275	0.00462238195674	0.00407	0.325620770454	0.14272	T	0.020764	0.16287	T	-0.258323	0.13097	T	-0.608839	0.12080	T	0.43750074505806	0.30337	T	0.207379	0.02472	T	0.19009238	0.40579	0.12032629	0.29040	0.19009238	0.40579	0.12032629	0.29039	-4.052	0.34286	T	0.14099720117186798	0.15825	0.081	0.12323	B	.;.	.;.	3.232695	0.44089	21.9	0.97124890625191174	0.32473	0.76227	0.37369	D	AEFBCI	0.117737	0.23051	N	-0.241673623504246	0.31436	1.762732	0.0174100041711367	0.40524	2.419799	0.899277228827159	0.26047	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.64	4.72	0.59248	2.034000	0.40767	7.238000	0.57892	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.3262:0.6738:0.0	13.312	0.59823	957	0.09725	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000506	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1082.33	33	chr3	3147503	.	G	C	1082.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.093;DP=737;ExcessHet=0;FS=1.742;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.89;ReadPosRankSum=0.597;SOR=0.917	GT:AD:DP:GQ:PL	0/1:49,42:91:99:1096,0,1277	18	0	1	0
chr3	9902952	9902952	C	T	exonic	IL17RE	.	nonsynonymous SNV	IL17RE:NM_001193380:exon1:c.C20T:p.A7V,IL17RE:NM_153480:exon1:c.C20T:p.A7V,IL17RE:NM_153483:exon2:c.C140T:p.A47V	.	372	1109	40	1	0	42	0.0185841	.	.	.	698311	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.102	.	0.0068	0.00279553	0.0074	0.0017	0.0035	0	0.0015	0.0104	0.0055	0.0082	0.0073673	1139	154602	rs12492494	0.0087	0.0087	0.0087	0.0087	0.0224	0.0086	0.0085	0.0192	0.0180	0.0014	0.0048	0.0127	5.038e-05	0.0011	0.0224	0.0096	0.0089	0.0085	0.0061	0.0061	0.0063	0.0058	0.0091	0.0058	0.0056	0.0085	0.0082	0.0018	0.0055	0.0082	0.0121	0.0002	0.0003	0.0170	0.0091	0.0066	0.0087	0.006	0.61437	D	0.0	0.92824	D	0.025	0.21471	B	0.031	0.27651	B	0.001211	0.39820	N	0.111469	1	0.08975	N	2.455	0.71248	M	1.29	0.36691	T	-0.79	0.50337	N	0.247	0.27910	-1.0023	0.29255	T	0.058	0.24242	T	10	0.004919827	0.00105	T	.	.	.	0.102	0.29158	.	.	0.104622674875	0.10061	0.6083380226000853	0.60765	.	.	0.304964482784	0.11146	T	0.018267	0.14759	T	-0.343868	0.05125	T	-0.254395	0.49382	T	0.0340284239846373	0.02643	T	0.685131	0.29365	T	0.051265508	0.09390	0.09706823	0.23088	0.051265508	0.09390	0.09706823	0.23088	-4.611	0.32310	T	.	.	0.223	0.60794	B	.;.;.;.	.;.;.;.	1.993303	0.25328	16.72	0.96743365609625154	0.30932	0.07162	0.13187	N	AEFDBHCI	0.079960	0.16159	N	-0.943008520452756	0.09851	0.4680409	-0.972191591647751	0.10413	0.5242698	0.999999998785102	0.74766	0.241074	0.04172	3	0.547309	0.14657	0	0.503968	0.08637	0	0.447301	0.06993	0	.	.	5.17	2.27	0.27501	0.785000	0.26491	1.388000	0.26092	-0.952000	0.02027	0.003000	0.16062	0.001000	0.17328	0.039000	0.14166	0.1624:0.5918:0.1572:0.0886	4.101	0.09485	680	0.59965	.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.000000	0.019022	0.008772	0.000000	0.008621	0.024390	0.026515	0.02632	1687.33	37	chr3	9902952	.	C	T	1687.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.134;DP=779;ExcessHet=0;FS=4.422;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.72;ReadPosRankSum=-0.248;SOR=1.061	GT:AD:DP:GQ:PL	0/1:53,70:123:99:1701,0,1195	18	0	1	0
chr3	11364687	11364687	G	A	exonic	ATG7	.	nonsynonymous SNV	ATG7:NM_001144912:exon15:c.G1711A:p.D571N,ATG7:NM_001349236:exon15:c.G1711A:p.D571N,ATG7:NM_001349237:exon15:c.G1669A:p.D557N,ATG7:NM_001349238:exon15:c.G895A:p.D299N,ATG7:NM_001136031:exon16:c.G1828A:p.D610N,ATG7:NM_006395:exon16:c.G1828A:p.D610N,ATG7:NM_001349233:exon17:c.G1828A:p.D610N,ATG7:NM_001349234:exon17:c.G1828A:p.D610N,ATG7:NM_001349235:exon17:c.G1828A:p.D610N,ATG7:NM_001349232:exon18:c.G1828A:p.D610N	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	0.0116595330811	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1010940656	1.368e-06	1.368e-06	0	2.75e-06	2.236e-05	2.3e-07	9e-08	.	.	0	2.236e-05	0	0	0	0	0	1.656e-05	0	6.57e-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	0.195	0.33585	T	0.259	0.33000	T	0.984	0.61118	D	0.463	0.46548	P	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	1.36	0.34107	L	0.9	0.45636	T	-1.36	0.33798	N	0.693	0.74918	-0.8299	0.53308	T	0.227	0.59183	T	10	0.30248535	0.47785	T	0.01166	0.29506	T	0.115	0.32236	0.161	0.06507	0.697181737278	0.69456	0.4850574085507603	0.48425	0.273939008093	0.29895	0.789423346519	0.80355	T	0.129462	0.45775	T	-0.14086	0.29753	T	-0.440112	0.28796	T	0.973237454891205	0.70014	D	0.978402	0.95985	D	0.22757107	0.45460	0.20088989	0.44042	0.22757107	0.45460	0.20088989	0.44041	-3.862	0.39033	T	.	.	0.497	0.64459	A	.;.;.;.	.;.;.;.	4.887895	0.80225	27.3	0.99809541868911933	0.89353	0.99111	0.91387	D	AEFBI	0.842803	0.75988	D	0.456187619690907	0.64554	4.712681	0.561855331431496	0.72225	5.776549	1.0	0.98316	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.32	5.32	0.75377	9.210000	0.94212	11.892000	0.99120	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.965000	0.52897	0.0:0.0:1.0:0.0	19.393	0.94585	667	0.61242	.;.;THIF-type NAD/FAD binding fold;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1636.33	33	chr3	11364687	.	G	A	1636.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.4;DP=789;ExcessHet=0;FS=0.589;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.92;ReadPosRankSum=-1.263;SOR=0.779	GT:AD:DP:GQ:PL	0/1:97,68:165:99:1650,0,2267	18	0	1	0
chr3	14517814	14517814	T	A	exonic	GRIP2	.	nonsynonymous SNV	GRIP2:NM_001080423:exon10:c.A1114T:p.M372L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.87e-07	6.84e-07	1.366e-06	0	2.28e-05	0	0	.	.	0	2.28e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.663	0.06448	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	.	.	.	0.55	0.14455	N	.	.	.	.	.	.	0.191	0.20925	.	.	.	.	.	.	.	0.22804484	0.39700	T	.	.	.	.	.	.	.	0.483301346737	0.47961	0.21758779784991739	0.21674	.	.	0.465338587761	0.34042	T	0.019416	0.15476	T	0.00382577	0.52182	T	-0.232281	0.51552	T	.	.	.	0.670533	0.27914	T	0.17883763	0.38924	0.38130134	0.63143	0.17883763	0.38924	0.38130134	0.63143	-0.557	0.00619	T	.	.	0.095	0.15832	B	.;.;.	.;.;.	1.436834	0.18559	13.80	0.62682024299662875	0.07025	0.88479	0.48426	D	AEFDBI	.	.	.	.	.	.	.	.	.	0.990977421840037	0.32331	0.162113	0.03585	0	0.063388	0.01293	0	0.175069	0.04249	0	0.058706	0.01089	0	0.177715	0.29333	4.0	-1.76	0.07574	0.850000	0.27389	0.649000	0.20393	0.609000	0.47794	1.000000	0.71638	0.949000	0.28973	0.996000	0.76049	0.0:0.1678:0.2935:0.5387	4.994	0.13575	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	.	.	.	.	.	.	.	.	0.02632	743.33	37	chr3	14517814	.	T	A	743.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.469;DP=723;ExcessHet=0;FS=3.2;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.78;ReadPosRankSum=1.47;SOR=0.361	GT:AD:DP:GQ:PL	0/1:44,32:76:99:757,0,1194	18	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	.	.	.	.	.	.	.	.	0.2895	3183.21	214	chr3	15003967	.	C	G	3183.21	.	AC=11;AF=0.289;AN=38;BaseQRankSum=-4.939;DP=3774;ExcessHet=8.9063;FS=188.233;InbreedingCoeff=-0.4074;MLEAC=11;MLEAF=0.289;MQ=60;MQRankSum=0;QD=1.4;ReadPosRankSum=1.07;SOR=13.139	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:212,61:273:99:.:.:250,0,6406:.	8	0	11	0
chr3	25794369	25794369	G	C	exonic	OXSM	.	nonsynonymous SNV	OXSM:NM_017897:exon3:c.G1255C:p.E419Q,OXSM:NM_001145391:exon4:c.G1006C:p.E336Q	.	430	1090	1	1	0	3	0.00137426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.0053234488548	0.0031	0.00239617	0.0041	0.0004	0.0064	0	0.0068	0.0054	0.0055	0.0005	0.0040685	629	154602	rs151328335	0.0037	0.0037	0.0037	0.0037	0.0046	0.0036	0.0036	0.0041	0.0039	0.0005	0.0046	0.0008	0	0.0096	0.0005	0.0039	0.0042	0.0004	0.0034	0.0034	0.0034	0.0034	0.0056	0.0031	0.0030	0.0047	0.0043	0.0007	0	0.0056	0.0012	0	0.0081	0	0.0043	0.0047	0.0008	0.087	0.32453	T	0.098	0.39040	T	0.009	0.25541	B	0.009	0.25551	B	0.000038	0.55875	D	0.158405	0.999952	0.52396	D	1.55	0.39271	L	.	.	.	-1.61	0.38734	N	0.178	0.23125	-0.9201	0.45540	T	0.125	0.42883	T	9	0.0075330734	0.00171	T	0.005323	0.13618	T	0.061	0.17616	.	.	0.446010312102	0.44222	0.7865000648753434	0.78602	0.0658031930893	0.07344	0.418930232525	0.27690	T	0.202306	0.56044	T	-0.491004	0.00642	T	-0.474065	0.25079	T	0.0167205965425796	0.00429	T	0.815518	0.59457	T	0.323841	0.54962	0.2105971	0.45453	0.323841	0.54962	0.2105971	0.45452	-4.752	0.35214	T	.	.	0.115	0.30842	B	.;.	.;.	2.796561	0.36774	20.3	0.98364029156886168	0.40678	0.95528	0.65080	D	AEFBI	0.570384	0.57479	D	-0.0648078191521985	0.38945	2.288758	0.0591855829400681	0.42518	2.573046	0.999989905225253	0.51787	0.706548	0.73137	0	0.724815	0.89359	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	5.4	3.58	0.40133	4.746000	0.61828	8.197000	0.76799	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.3417:0.6583:0.0	16.246	0.82265	594	0.68584	Polyketide synthase, beta-ketoacyl synthase 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	0.005051	0.000000	0.000000	0.000000	0.008621	0.003049	0.000000	0.02632	1638.33	33	chr3	25794369	.	G	C	1638.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.25;DP=755;ExcessHet=0;FS=6.564;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.96;ReadPosRankSum=1.85;SOR=1.262	GT:AD:DP:GQ:PL	0/1:75,62:137:99:1652,0,1941	18	0	1	0
chr3	37025815	37025815	G	A	exonic	MLH1	.	nonsynonymous SNV	MLH1:NM_001354625:exon9:c.G143A:p.S48N,MLH1:NM_001354621:exon10:c.G194A:p.S65N,MLH1:NM_001354623:exon10:c.G194A:p.S65N,MLH1:NM_001354624:exon10:c.G143A:p.S48N,MLH1:NM_001354626:exon10:c.G143A:p.S48N,MLH1:NM_001354627:exon10:c.G143A:p.S48N,MLH1:NM_001167619:exon11:c.G494A:p.S165N,MLH1:NM_001258273:exon11:c.G494A:p.S165N,MLH1:NM_001354615:exon11:c.G494A:p.S165N,MLH1:NM_001354616:exon11:c.G494A:p.S165N,MLH1:NM_001354622:exon11:c.G194A:p.S65N,MLH1:NM_001354629:exon11:c.G1118A:p.S373N,MLH1:NM_000249:exon12:c.G1217A:p.S406N,MLH1:NM_001167617:exon12:c.G923A:p.S308N,MLH1:NM_001167618:exon12:c.G494A:p.S165N,MLH1:NM_001258271:exon12:c.G1217A:p.S406N,MLH1:NM_001354617:exon12:c.G494A:p.S165N,MLH1:NM_001354618:exon12:c.G494A:p.S165N,MLH1:NM_001354620:exon12:c.G923A:p.S308N,MLH1:NM_001354628:exon12:c.G1217A:p.S406N,MLH1:NM_001354630:exon12:c.G1217A:p.S406N,MLH1:NM_001258274:exon13:c.G494A:p.S165N,MLH1:NM_001354619:exon13:c.G494A:p.S165N	Colorectal cancer, hereditary nonpolyposis, type 2;Mismatch repair cancer syndrome, Autosomal recessive;Muir-Torre syndrome, Autosomal dominant	0	1510	11	1	0	13	0.00428619	.	.	YES	50073	Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|Lynch_syndrome|Carcinoma_of_colon|not_provided|Colorectal_cancer,_hereditary_nonpolyposis,_type_2|Mismatch_repair_cancer_syndrome_1|Muir-Torré_syndrome|not_specified|Breast_and/or_ovarian_cancer	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MeSH:D003123,MedGen:C0009405|MONDO:MONDO:0005835,MedGen:C4552100,Orphanet:144|MONDO:MONDO:0002032,MedGen:C0699790|MedGen:C3661900|MONDO:MONDO:0012249,MedGen:C1333991,OMIM:609310,Orphanet:144|MONDO:MONDO:0010159,MedGen:C5399763,OMIM:276300,Orphanet:252202|MONDO:MONDO:0008018,MedGen:C1321489,OMIM:158320,Orphanet:587|MedGen:CN169374|MedGen:CN221562	reviewed_by_expert_panel	Benign	.	.	.	.	.	.	.	.	0.024	0.0136817591132	0.0014	0.000399361	0.0009	0.0003	0.0021	0	0	0.0012	0.0022	0.0003	0.0009185	142	154602	rs41294980	0.0011	0.0011	0.0010	0.0011	0.0014	0.0010	0.0010	0.0012	0.0012	0.0001	0.0013	0.0005	0	7.488e-05	0.0014	0.0012	0.0011	0.0003	0.0008	0.0008	0.0009	0.0008	0.0014	0.0007	0.0007	0.0012	0.0011	0.0002	0	0.0008	0.0003	0	0	0	0.0014	0.0033	0.0004	0.255	0.16848	T	0.525	0.11515	T	0.384	0.34453	B	0.081	0.28987	B	0.176831	0.03153	N	1.598200	1	0.08975	N	1.455	0.36767	L	-2.48	0.89071	D	0.46	0.04861	N	0.31	0.34981	-1.0320	0.19809	T	0.053	0.22384	T	10	0.01582715	0.00332	T	0.013682	0.33266	T	0.385	0.70194	.	.	0.854821475468	0.85342	0.19107657347908633	0.19025	0.0717791696343	0.08041	0.278761684895	0.07321	T	0.274235	0.64672	T	-0.256289	0.13338	T	-0.148182	0.59404	T	0.0049494812678473	0.00053	T	0.505949	0.15996	T	0.025862552	0.01572	0.04823017	0.07119	0.023537483	0.01101	0.05277425	0.08760	-5.255	0.39496	T	0.14108107689935998	0.15841	0.079	0.07460	B	.;.;.;.;.;.	.;.;.;.;.;.	1.526935	0.19596	14.34	0.95398342299662342	0.26846	0.27255	0.23226	N	AEFDBHCI	0.132692	0.25209	N	-0.371049334449799	0.26506	1.447101	-0.407736037891218	0.24770	1.358293	0.99999777704043	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.8	2.94	0.33188	2.951000	0.48782	1.918000	0.29691	0.676000	0.76740	0.178000	0.24038	0.011000	0.20116	0.607000	0.31564	0.1564:0.1391:0.5612:0.1433	3.022	0.05709	200	0.92234	.;.;.;.;.;.	.	.	.	.	.	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	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	5142.33	39	chr3	37025815	.	G	A	5142.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.063;DP=1107;ExcessHet=0;FS=1.101;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.04;ReadPosRankSum=0.068;SOR=0.596	GT:AD:DP:GQ:PL	0/1:214,213:427:99:5156,0,5196	18	0	1	0
chr3	38183042	38183042	C	A	exonic	OXSR1	.	nonsynonymous SNV	OXSR1:NM_005109:exon2:c.C110A:p.A37D	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.0153384844865	0.0008	.	0.0007	9.619e-05	8.678e-05	0	0.0002	0.0012	0.0011	0.0004	0.000718	111	154602	rs138580801	0.0008	0.0008	0.0008	0.0008	0.0023	0.0008	0.0008	0.0013	0.0011	2.992e-05	0.0001	0.0005	0	0.0002	0.0023	0.0010	0.0007	0.0003	0.0006	0.0006	0.0006	0.0005	0.0010	0.0005	0.0004	0.0008	0.0007	9.627e-05	0	0.0006	0.0003	0	9.446e-05	0.0034	0.0010	0.0005	0.0004	0.021	0.49117	D	0.196	0.30828	T	0.051	0.22415	B	0.081	0.28987	B	0.033968	0.24830	N	0.471165	0.797225	0.34464	D	0.72	0.18721	N	-0.17	0.65563	T	-1.14	0.30762	N	0.345	0.38848	-0.8982	0.48175	T	0.122	0.42357	T	10	0.027602464	0.00904	T	0.015338	0.36015	T	0.044	0.11924	.	.	0.240615537116	0.23683	0.9199792867116431	0.91973	1.1158116496	0.78167	0.512913405895	0.40630	T	0.108863	0.42226	T	-0.461182	0.00966	T	-0.441709	0.28617	T	0.0169867311479199	0.00448	T	0.946205	0.79443	D	0.52729577	0.68677	0.3425057	0.59976	0.52729577	0.68678	0.3425057	0.59975	-7.251	0.55847	T	.	.	0.223	0.49499	B	.;.	.;.	1.764027	0.22436	15.62	0.98918737768455367	0.48509	0.16719	0.19518	N	AEFBI	0.065763	0.12845	N	-0.553055353220485	0.20389	1.074411	-0.446507720150497	0.23647	1.29074	0.990838974576066	0.32285	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.2	2.31	0.27816	-0.363000	0.07645	0.314000	0.17114	0.599000	0.40250	0.000000	0.06391	0.947000	0.28924	0.984000	0.60418	0.0:0.6899:0.0:0.3101	9.094	0.35787	464	0.78488	Protein kinase domain|Protein kinase, ATP binding site|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase, ATP binding site|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	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	1123.33	33	chr3	38183042	.	C	A	1123.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.634;DP=724;ExcessHet=0;FS=0.79;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.62;ReadPosRankSum=-0.12;SOR=0.606	GT:AD:DP:GQ:PL	0/1:39,50:89:99:1137,0,965	18	0	1	0
chr3	38274346	38274349	CACC	-	exonic	SLC22A13	.	frameshift deletion	SLC22A13:NM_004256:exon2:c.453_456del:p.T152Sfs*61	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	251.47	33	chr3	38274345	.	GCACC	G	251.47	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-2.778;DP=1269;ExcessHet=0.3672;FS=140.054;InbreedingCoeff=-0.0851;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=0.37;ReadPosRankSum=2.67;SOR=9.308	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:203,40:243:17:0|1:38274345_GCACC_G:17,0,7656:38274345	17	0	2	0
chr3	38274346	38274346	C	0	exonic	SLC22A13	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	718.62	33	chr3	38274346	.	C	*	718.62	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-1.141;DP=1459;ExcessHet=0.7564;FS=180.085;InbreedingCoeff=-0.1176;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=0.81;ReadPosRankSum=3.59;SOR=10.272	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:187,40:235:99:1|0:38274345_GCACC_G:138,0,7476:38274345	16	0	3	0
chr3	38274348	38274348	C	0	exonic	SLC22A13	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	683.62	33	chr3	38274348	.	C	*	683.62	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-3.496;DP=1581;ExcessHet=0.7564;FS=190.832;InbreedingCoeff=-0.1176;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=0.78;ReadPosRankSum=3.52;SOR=10.352	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:174,40:231:99:.:.:877,0,7310:.	16	0	3	0
chr3	38274349	38274349	-	TGGG	exonic	SLC22A13	.	frameshift insertion	SLC22A13:NM_004256:exon2:c.456_457insTGGG:p.L153Wfs*38	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1125.78	33	chr3	38274349	.	C	CTGGG	1125.78	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.758;DP=1445;ExcessHet=0.7564;FS=180.085;InbreedingCoeff=-0.1176;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=1.28;ReadPosRankSum=1.51;SOR=10.26	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:188,40:237:99:.:.:408,0,7497:.	18	0	1	0
chr3	39103525	39103525	G	A	exonic	GORASP1	.	nonsynonymous SNV	GORASP1:NM_031899:exon2:c.C92T:p.A31V	.	423	1082	15	2	0	19	0.00870362	.	.	.	708833	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.309	0.055553734427	0.0045	0.000998403	0.0044	0.0018	0.0021	0	0.0011	0.0068	0.0056	0.0014	0.0044178	683	154602	rs140965034	0.0058	0.0059	0.0058	0.0059	0.0103	0.0057	0.0057	0.0082	0.0074	0.0010	0.0021	0.0034	5.04e-05	0.0015	0.0103	0.0069	0.0055	0.0016	0.0041	0.0041	0.0041	0.0040	0.0069	0.0038	0.0037	0.0064	0.0062	0.0012	0	0.0036	0.0035	0	0.0011	0.0102	0.0069	0.0052	0.0012	0.079	0.50676	T	0.003	0.76473	D	0.998	0.73220	D	0.883	0.62698	P	0.000113	0.50451	D	0.169966	0.999997	0.81001	D	3.01	0.86067	M	1.09	0.39223	T	-3.9	0.73579	D	0.697	0.70175	-0.5431	0.67047	T	0.193	0.54579	T	10	0.009057999	0.00205	T	0.055554	0.66278	D	0.309	0.63055	.	.	0.253981072376	0.25009	0.8611171344085738	0.86075	0.562925925514	0.52745	0.66104221344	0.61558	T	0.097135	0.61438	T	-0.332059	0.05957	T	-0.242792	0.50526	T	0.0425861674960746	0.04161	T	0.89911	0.64631	D	0.27576798	0.50640	0.17571062	0.40056	0.27576798	0.50640	0.17571062	0.40055	-8.723	0.65896	D	.	.	0.584	0.68231	P	.;.;.	.;.;.	5.179522	0.86839	29.0	0.99905353714743061	0.97651	0.90587	0.51887	D	AEFDBHCI	0.720418	0.67098	D	0.612667567709137	0.73976	6.054688	0.53551609172726	0.70396	5.499116	0.999999998265908	0.74766	0.743674	0.98306	0	0.635938	0.57008	0	0.779548	0.98927	0	0.584449	0.35598	0	.	.	4.66	4.66	0.57857	4.830000	0.62434	11.720000	0.94800	-0.168000	0.11412	1.000000	0.71638	1.000000	0.68203	0.923000	0.45890	0.0:0.1605:0.8395:0.0	14.331	0.66114	359	0.84979	.;.;GRASP55/65 PDZ-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.011628	0.020202	0.006793	0.008824	0.050000	0.000000	0.009259	0.015267	0.02632	1611.33	34	chr3	39103525	.	G	A	1611.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.957;DP=836;ExcessHet=0;FS=1.27;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.46;ReadPosRankSum=-1.826;SOR=0.563	GT:AD:DP:GQ:PL	0/1:84,70:154:99:1625,0,1916	18	0	1	0
chr3	42223223	42223223	C	G	exonic	TRAK1	.	nonsynonymous SNV	TRAK1:NM_001349248:exon15:c.C2063G:p.P688R,TRAK1:NM_001349249:exon15:c.C2126G:p.P709R,TRAK1:NM_001042646:exon16:c.C2348G:p.P783R,TRAK1:NM_001349245:exon16:c.C1973G:p.P658R,TRAK1:NM_001349246:exon16:c.C2285G:p.P762R	.	421	1082	19	0	0	19	0.00870362	.	.	.	698084	TRAK1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.236	0.0602834960965	0.0032	0.00159744	0.0040	0.0007	0.0016	0	0.0031	0.0055	0.0056	0.0038	0.0038227	591	154602	rs143591096	0.0046	0.0046	0.0046	0.0046	0.0102	0.0045	0.0045	0.0081	0.0074	0.0006	0.0025	0.0099	0	0.0046	0.0102	0.0049	0.0048	0.0037	0.0036	0.0036	0.0034	0.0037	0.0052	0.0033	0.0032	0.0043	0.0041	0.0008	0.0033	0.0052	0.0115	0	0.0044	0.0034	0.0047	0.0028	0.0025	0.105	0.63226	T	0.002	0.79402	D	1.0	0.90584	D	0.995	0.83170	D	0.000000	0.84330	D	0.000000	0.999772	0.48980	D	2.31	0.66127	M	0.64	0.52867	T	-4.18	0.78472	D	0.814	0.84090	-0.6917	0.60829	T	0.181	0.52798	T	10	0.014560461	0.00306	T	0.060283	0.67949	D	0.236	0.53931	.	.	0.814432940858	0.81269	0.6963725277447097	0.69578	0.93105587409	0.71815	0.663438677788	0.61900	T	0.698369	0.91292	D	-0.330531	0.06073	T	-0.246332	0.50178	T	0.0174422847877956	0.00481	T	0.953005	0.82069	D	0.25303912	0.48323	0.21788044	0.46470	0.27379662	0.50446	0.18927023	0.42263	-4.154	0.26082	T	.	.	0.693	0.72675	P	.;.;.	.;.;.	4.327590	0.66282	24.9	0.99842403403797753	0.92229	0.98629	0.84891	D	AEFDBI	0.698973	0.65648	D	0.48861473164218	0.66422	4.948293	0.4323055844489	0.63588	4.595643	0.999999758550495	0.74766	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.32	4.45	0.53365	5.890000	0.69515	5.918000	0.51122	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.910000	0.44547	0.0:0.9221:0.0:0.0779	13.001	0.58084	667	0.61242	.;.;.	.	.	.	.	.	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	0.014602	0.010101	0.019022	0.002924	0.000000	0.025862	0.012195	0.022727	0.02632	2287.33	59	chr3	42223223	.	C	G	2287.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.71;DP=965;ExcessHet=0;FS=0.513;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.21;ReadPosRankSum=0.032;SOR=0.698	GT:AD:DP:GQ:PL	0/1:104,100:204:99:2301,0,2485	18	0	1	0
chr3	44838281	44838281	A	G	exonic	KIF15	.	nonsynonymous SNV	KIF15:NM_020242:exon27:c.A3178G:p.M1060V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.111	0.00670379049941	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.373e-06	1.368e-06	0	2.76e-06	9.008e-07	2.3e-07	9e-08	.	.	0	0	0	0	0	0	9.008e-07	1.662e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	0.18308	T	0.439	0.27855	T	0.001	0.07471	B	0.0	0.01387	B	0.000006	0.62929	D	0.000000	0.859172	0.29901	N	1.97	0.53315	M	1.06	0.39781	T	-0.6	0.19933	N	0.324	0.36464	-1.0359	0.18575	T	0.065	0.27017	T	10	0.1056335	0.19534	T	0.006704	0.17699	T	0.111	0.31313	0.289	0.24921	0.243972157842	0.24002	0.17655980995752105	0.17574	0.213234750306	0.23835	0.544515192509	0.45084	T	0.005931	0.05373	T	-0.118037	0.33445	T	-0.407328	0.32535	T	0.313508033752441	0.25557	T	.	.	.	0.08292267	0.19124	0.14568926	0.34544	0.08292267	0.19124	0.14568926	0.34543	-2.861	0.08759	T	.	.	0.142	0.43144	B	.;.	.;.	2.343347	0.30033	18.31	0.91343086733750889	0.20606	0.88393	0.48300	D	AEFBI	0.256892	0.37572	N	-0.221430616473445	0.32255	1.817122	-0.0108009873473681	0.39225	2.322588	0.905658501533402	0.26210	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.26	5.26	0.73479	2.871000	0.48157	11.169000	0.87908	0.729000	0.85517	0.987000	0.36337	1.000000	0.68203	0.991000	0.66497	0.8375:0.1625:0.0:0.0	10.469	0.43813	301	0.87912	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1154.33	34	chr3	44838281	.	A	G	1154.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.463;DP=705;ExcessHet=0;FS=1.824;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.42;ReadPosRankSum=0.074;SOR=0.922	GT:AD:DP:GQ:PL	0/1:40,46:86:99:1168,0,980	18	0	1	0
chr3	44901672	44901672	G	A	exonic	TGM4	.	stopgain	TGM4:NM_003241:exon7:c.G806A:p.W269X	.	428	1034	59	1	0	61	0.0286519	.	.	YES	1174741	Essential_tremor	MONDO:MONDO:0003233,MedGen:C0270736,OMIM:PS190300	no_assertion_criteria_provided	Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	0.0070	0.00519169	0.0084	0.0008	0.0054	0.0001	0.0114	0.0096	0.0177	0.0129	0.0079365	1227	154602	rs139860990	0.0078	0.0079	0.0074	0.0083	0.0359	0.0077	0.0077	0.0319	0.0303	0.0016	0.0072	0.0216	5.038e-05	0.0114	0.0359	0.0070	0.0100	0.0148	0.0079	0.0079	0.0074	0.0084	0.0138	0.0075	0.0074	0.0123	0.0117	0.0013	0.0647	0.0138	0.0213	0.0002	0.0119	0.0408	0.0087	0.0085	0.0108	.	.	.	.	.	.	.	.	.	.	.	.	0.000516	0.43753	U	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.055	0.02658	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26044	0.79570	D	0.613004	0.97331	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant	High	6.758159	0.95693	35	0.98430627671716242	0.41397	0.94692	0.62003	D	AEFDBI	0.051856	0.09201	N	0.265486187549569	0.54408	3.606505	-0.0550447570393013	0.37272	2.180135	0.999722947169698	0.42220	0.516011	0.20929	0	0.59043	0.45803	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	2.83	1.91	0.24841	5.428000	0.66226	2.333000	0.32207	0.591000	0.32079	1.000000	0.71638	1.000000	0.68203	0.062000	0.16114	0.0:0.1757:0.8243:0.0	12.091	0.53024	314	0.87270	Transglutaminase-like|Transglutaminase-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0.026183	0.035354	0.029891	0.023392	0.000000	0.043103	0.018293	0.011364	0.05263	2102.83	34	chr3	44901672	.	G	A	2102.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.378;DP=1094;ExcessHet=0.119;FS=1.136;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.9;ReadPosRankSum=-0.03;SOR=0.578	GT:AD:DP:GQ:PL	0/1:61,55:116:99:1362,0,1615	17	0	2	0
chr3	51391745	51391745	C	T	exonic	RBM15B	.	nonsynonymous SNV	RBM15B:NM_013286:exon1:c.C346T:p.P116S	.	422	1098	2	0	0	2	0.000909918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.0739074726204	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1176113524	2.085e-05	2.531e-05	1.858e-05	2.315e-05	0.0004	1.463e-05	1.265e-05	7.109e-05	2.962e-05	0	2.68e-05	0.0002	0	0	0.0004	1.655e-05	5.217e-05	1.24e-05	1.317e-05	1.314e-05	2.574e-05	0	2.945e-05	2.19e-06	8.2e-07	4.89e-06	1.83e-06	0	0	0	0	0	0	0	2.945e-05	0	0	0.373	0.11442	T	0.725	0.05256	T	0.007	0.14184	B	0.007	0.12992	B	.	.	.	.	1	0.08975	N	0.55	0.14455	N	2.59	0.13317	T	0.15	0.05310	N	0.2	0.22098	-0.9600	0.39181	T	0.017	0.07045	T	9	0.102377534	0.18760	T	0.073907	0.71909	D	.	.	0.35	0.34760	0.28494636882	0.28116	0.2821836856041985	0.28131	.	.	0.889254331589	0.95168	D	0.024832	0.18689	T	-0.224767	0.17346	T	-0.560639	0.16317	T	0.0359294321591734	0.02969	T	0.481052	0.14533	T	0.06940628	0.15202	0.072599076	0.15682	0.06940628	0.15202	0.072599076	0.15682	-6.391	0.49440	T	.	.	0.081	0.08272	B	.	.	2.756253	0.36138	20.2	0.96561971847497641	0.30265	0.08040	0.14016	N	AEFDBHCIJ	0.072224	0.14407	N	-1.02000904160627	0.08189	0.3830967	-0.969748053429826	0.10469	0.5274379	0.99999997602965	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.600757	0.32118	0	0.372554	0.06265	0	.	.	3.66	2.76	0.31527	0.789000	0.26547	3.470000	0.38575	0.446000	0.21189	0.985000	0.35982	0.975000	0.29991	0.933000	0.47100	0.1838:0.8162:0.0:0.0	11.335	0.48736	7	0.99271	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	829.33	38	chr3	51391745	.	C	T	829.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.37;DP=700;ExcessHet=0;FS=1.052;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.96;ReadPosRankSum=-0.66;SOR=0.968	GT:AD:DP:GQ:PL	0/1:34,30:64:99:843,0,1011	18	0	1	0
chr3	53718690	53718695	GGAGAC	-	exonic	CACNA1D	.	nonframeshift deletion	CACNA1D:NM_000720:exon11:c.1487_1492del:p.R498_R499del	Primary aldosteronism, seizures, and neurologic abnormalities, Autosomal dominant;Sinoatrial node dysfunction and deafness, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	3743727	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1369929308	2.852e-06	2.736e-06	2.816e-06	2.889e-06	3.702e-06	6.7e-07	4.5e-07	8.7e-07	5.8e-07	0	0	0	0	0	0	3.702e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	3352.29	38	chr3	53718689	.	TGGAGAC	T	3352.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.06;DP=868;ExcessHet=0;FS=1.85;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.24;ReadPosRankSum=0.141;SOR=0.866	GT:AD:DP:GQ:PL	0/1:129,91:220:99:3366,0,5143	18	0	1	0
chr3	75730451	75730451	T	G	exonic	ZNF717	.	stoploss	ZNF717:NM_001324027:exon7:c.A2396C:p.X799S	.	432	314	768	8	0	784	0.555241	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000461	12	26028	rs75952318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	47576.4	207	chr3	75730451	.	T	G	47576.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-2.127;DP=2663;ExcessHet=48.2876;FS=6.146;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=54.47;MQRankSum=-6.987;QD=18.24;ReadPosRankSum=0.373;SOR=0.4	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:99,21:120:99:0|1:75730450_C_T:584,0,4030:75730450	0	0	19	0
chr3	75737060	75737060	A	G	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T2563C:p.S855P,ZNF717:NM_001290208:exon5:c.T2563C:p.S855P,ZNF717:NM_001290209:exon5:c.T2413C:p.S805P	.	379	596	534	13	0	560	0.319635	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.160	0.000628152010991	.	.	.	.	.	.	.	.	.	.	0.0548256	1427	26028	rs77715040	8.282e-06	8.895e-06	4.114e-06	1.25e-05	1.183e-05	4.42e-06	3.49e-06	5.34e-06	3.9e-06	0	0	0	0	0	0	9.948e-06	0	1.183e-05	1.314e-05	1.313e-05	1.284e-05	1.345e-05	2.939e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0	0.013	0.53900	D	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.15	0.07820	T	-3.1	0.63554	D	0.116	0.10483	-1.0427	0.16503	T	0.033	0.14029	T	9	0.09637886	0.17284	T	6.28E-4	0.00319	T	0.160	0.41473	.	.	0.0138822411134	0.00435	0.009052444588593512	0.00868	.	.	0.566062688828	0.48122	T	.	.	.	-0.167764	0.25573	T	-0.478758	0.24578	T	0.297621607780457	0.24905	T	0.79872	0.44372	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.550	0.66781	A	.	.	2.370076	0.30412	18.43	0.98191942080542327	0.39045	0.00784	0.03216	N	AEFDBHCI	0.085768	0.17389	N	-0.771083796564405	0.14068	0.6978022	-0.955324100233036	0.10800	0.5462925	0.999957637849619	0.48110	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.59	1.59	0.22622	-2.936000	0.00751	.	.	0.610000	0.48991	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	1.0:0.0:0.0:0.0	7.316	0.25675	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	30914.3	256	chr3	75737060	.	A	G	30914.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-0.825;DP=3492;ExcessHet=48.2876;FS=0.535;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=53.88;MQRankSum=-5.378;QD=9.11;ReadPosRankSum=0.644;SOR=0.759	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:123,18:141:79:.:.:79,0,3838:.	0	0	19	0
chr3	75737092	75737092	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2531A:p.C844Y,ZNF717:NM_001290208:exon5:c.G2531A:p.C844Y,ZNF717:NM_001290209:exon5:c.G2381A:p.C794Y	.	382	490	638	12	0	662	0.403167	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.402	0.00342039862449	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs139633377	6.975e-07	1.369e-06	1.383e-06	0	9.107e-07	0	0	.	.	0	0	0	0	0	0	9.107e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.015	0.61642	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-1.94	0.84919	D	-7.52	0.95102	D	0.208	0.23125	-0.0500	0.81206	T	0.770	0.92171	D	9	0.30394778	0.47923	T	0.00342	0.07694	T	0.402	0.71558	.	.	0.578941962908	0.57563	0.02342305612139971	0.02294	.	.	0.721298933029	0.70236	T	.	.	.	0.128852	0.67249	D	-0.0526902	0.66838	D	0.914417432390081	0.57105	D	0.80432	0.45191	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.889	0.82003	P	.	.	2.732693	0.35776	19.99	0.91222742361264963	0.20479	0.19094	0.20525	N	AEFDBHCI	0.116885	0.22922	N	0.127215796981728	0.47735	2.995096	-0.201159305983142	0.31494	1.782947	0.999998666164745	0.74766	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.46	0.518	0.16228	4.030000	0.56971	.	.	0.487000	0.22268	0.993000	0.37899	0.000000	0.08366	0.025000	0.12405	0.0:0.7965:0.0:0.2035	5.69	0.17097	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	52412.4	280	chr3	75737092	.	C	T	52412.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-2.868;DP=3617;ExcessHet=48.2876;FS=2.51;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=55.44;MQRankSum=-8.725;QD=14.68;ReadPosRankSum=2.04;SOR=0.912	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:131,21:152:99:0|1:75737092_C_T:466,0,5396:75737092	0	0	19	0
chr3	75737094	75737094	T	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2529T:p.R843S,ZNF717:NM_001290208:exon5:c.A2529T:p.R843S,ZNF717:NM_001290209:exon5:c.A2379T:p.R793S	.	386	488	636	12	0	660	0.403423	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.187	0.00139168871644	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs149660902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.487	0.08067	T	0.021	0.58089	D	.	.	.	.	.	.	.	.	.	.	1	0.29002	N	.	.	.	2.5	0.14408	T	0.12	0.05604	N	0.171	0.18239	-0.9656	0.38092	T	0.015	0.05849	T	9	0.041348934	0.02782	T	0.001392	0.02037	T	0.187	0.46274	.	.	0.0138822411134	0.00435	0.003970010212323737	0.00371	.	.	0.350422680378	0.17984	T	.	.	.	-0.230087	0.16639	T	-0.568281	0.15607	T	0.0363333960522166	0.03039	T	0.50295	0.15803	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.364	0.57473	A	.	.	0.927565	0.13027	9.531	0.78772853777929608	0.12446	0.00288	0.01547	N	AEFDBHCI	0.032938	0.03815	N	-1.56864543804847	0.01428	0.06230873	-1.65490256639135	0.01351	0.06097677	0.999968767302643	0.48965	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.46	-1.65	0.07849	-1.617000	0.02154	.	.	-1.209000	0.01353	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.2432:0.1819:0.2457:0.3291	0.098	0.00042	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	52218.4	279	chr3	75737094	.	T	A	52218.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-2.675;DP=3606;ExcessHet=48.2876;FS=2.513;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=55.56;MQRankSum=-8.714;QD=14.56;ReadPosRankSum=1.95;SOR=0.923	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:133,21:154:99:0|1:75737092_C_T:460,0,5481:75737092	0	0	19	0
chr3	75737105	75737105	T	A	exonic	ZNF717	.	stopgain	ZNF717:NM_001128223:exon5:c.A2518T:p.K840X,ZNF717:NM_001290208:exon5:c.A2518T:p.K840X,ZNF717:NM_001290209:exon5:c.A2368T:p.K790X	.	386	483	643	10	0	663	0.406998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0502536	1308	26028	rs113251431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.032	0.00825	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.493707	0.94111	D	0.471	0.94033	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.648710	0.92795	33	0.9890268774789388	0.48217	0.46426	0.27757	N	AEFDBHCI	0.042646	0.06644	N	0.188175099212538	0.50632	3.251287	-0.154561253355241	0.33234	1.898897	0.999999961661622	0.74766	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.59	1.59	0.22622	3.121000	0.50131	.	.	0.539000	0.25131	1.000000	0.71638	0.000000	0.08366	0.011000	0.09372	0.0:0.0:0.0:1.0	7.316	0.25675	987	0.02648	Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	51218.4	275	chr3	75737105	.	T	A	51218.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-3.193;DP=3583;ExcessHet=48.2876;FS=3.337;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=55.97;MQRankSum=-9.931;QD=14.38;ReadPosRankSum=1.42;SOR=0.97	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:131,20:151:99:0|1:75737092_C_T:445,0,5440:75737092	0	0	19	0
chr3	75737127	75737127	A	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T2496G:p.H832Q,ZNF717:NM_001290208:exon5:c.T2496G:p.H832Q,ZNF717:NM_001290209:exon5:c.T2346G:p.H782Q	.	384	545	585	8	0	601	0.355411	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.462	0.0028455442474	.	.	.	.	.	.	.	.	.	.	0.064008	1666	26028	rs79811623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-2.18	0.86722	D	-5.94	0.89093	D	0.203	0.22486	0.069	0.83596	D	0.747	0.91362	D	9	0.25438643	0.42818	T	0.002846	0.05956	T	0.462	0.75889	.	.	0.358340041657	0.35441	0.0053718602075851244	0.00508	.	.	0.740122795105	0.72990	T	.	.	.	0.0996688	0.64257	D	-0.0946091	0.63811	T	0.721620917320251	0.41781	D	0.784422	0.42203	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.946	0.86443	P	.	.	1.863242	0.23667	16.11	0.75650377613460507	0.11157	0.04138	0.09621	N	AEFDBHCI	0.080253	0.16223	N	-0.306900910275906	0.28885	1.597038	-0.631394962146373	0.18688	0.9994579	0.99995045990878	0.48110	0.632932	0.41330	0	0.666794	0.63253	0	0.002978	0.00130	3	0.756233	0.99697	0	.	.	1.59	0.372	0.15405	0.061000	0.14242	.	.	0.575000	0.29119	0.037000	0.20830	0.000000	0.08366	0.001000	0.02609	0.8077:0.0:0.1923:0.0	4.797	0.12647	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	45019.4	258	chr3	75737127	.	A	C	45019.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-1.02;DP=3367;ExcessHet=48.2876;FS=6.221;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=56.5;MQRankSum=-10.9;QD=13.47;ReadPosRankSum=1.25;SOR=1.093	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:133,20:153:99:0|1:75737092_C_T:439,0,5524:75737092	0	0	19	0
chr3	75737164	75737172	CTACATTCT	-	exonic	ZNF717	.	nonframeshift deletion	ZNF717:NM_001128223:exon5:c.2451_2459del:p.E818_R820del,ZNF717:NM_001290208:exon5:c.2451_2459del:p.E818_R820del,ZNF717:NM_001290209:exon5:c.2301_2309del:p.E768_R770del	.	392	660	463	7	0	477	0.265442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012256	319	26028	rs66703079	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	28213.3	184	chr3	75737163	.	CCTACATTCT	C	28213.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-0.052;DP=2750;ExcessHet=48.2876;FS=12.118;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=56.71;MQRankSum=-10.76;QD=10.38;ReadPosRankSum=-0.785;SOR=1.489	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:117,12:129:99:0|1:75737092_C_T:152,0,4857:75737092	0	0	19	0
chr3	75737519	75737519	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C2104T:p.P702S,ZNF717:NM_001290208:exon5:c.C2104T:p.P702S,ZNF717:NM_001290209:exon5:c.C1954T:p.P652S,ZNF717:NM_001324027:exon5:c.C2104T:p.P702S	.	378	414	722	8	0	738	0.471264	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.231	0.0020371222204	.	.	.	.	.	.	.	.	.	.	0.0847549	2206	26028	rs80089603	0.0009	0.0009	0.0010	0.0008	0.0241	0.0009	0.0009	0.0227	0.0221	0.0241	0.0014	0.0065	0.0009	0	0.0016	6.293e-05	0.0031	0.0001	0.0071	0.0074	0.0072	0.0070	0.0235	0.0067	0.0066	0.0223	0.0218	0.0235	0	0.0024	0.0084	0.0025	0	0.0034	4.409e-05	0.0071	0.0006	0.014	0.53172	D	0.014	0.62352	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	3.28	0.06523	T	-2.65	0.56787	D	0.082	0.05799	-0.9616	0.38877	T	0.011	0.04274	T	9	0.0059270263	0.00133	T	0.002037	0.03721	T	0.231	0.53208	.	.	0.0297737177859	0.01360	0.030845822720570865	0.03033	.	.	0.227284103632	0.01773	T	.	.	.	-0.138909	0.30065	T	-0.437309	0.29111	T	0.612736403942108	0.36911	D	0.140186	0.01129	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.121	0.25166	B	.	.	2.134754	0.27180	17.37	0.9793642767632269	0.36999	0.50764	0.28739	D	AEFDBHCI	0.281183	0.39482	N	-0.656716686745216	0.17265	0.8869353	-0.759493038371137	0.15489	0.8148735	0.999998040796218	0.74766	0.460665	0.09802	0	0.601575	0.49859	0	0.575934	0.27490	0	0.756233	0.99697	0	.	.	1.27	0.281	0.14938	5.209000	0.65041	.	.	0.560000	0.28382	1.000000	0.71638	0.000000	0.08366	0.002000	0.04165	0.0:0.0:0.7085:0.2915	6.406	0.20867	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	72208.4	197	chr3	75737519	.	G	A	72208.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=0.695;DP=3883;ExcessHet=48.2876;FS=4.051;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=56.16;MQRankSum=-6.49;QD=19.68;ReadPosRankSum=0.126;SOR=0.729	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:126,33:159:99:.:.:986,0,5127:.	0	0	19	0
chr3	75737590	75737590	A	G	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T2033C:p.M678T,ZNF717:NM_001290208:exon5:c.T2033C:p.M678T,ZNF717:NM_001290209:exon5:c.T1883C:p.M628T,ZNF717:NM_001324027:exon5:c.T2033C:p.M678T	.	380	344	789	9	0	807	0.539799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.000918803670254	.	.	.	.	.	.	.	.	.	.	0.0043031	112	26028	rs79103664	2.155e-06	3.424e-06	1.417e-06	2.914e-06	1.862e-06	5.7e-07	1.6e-07	3.1e-07	1.2e-07	0	0	0	0	0	0	1.862e-06	1.736e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.577	0.06049	T	0.136	0.34009	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.17	0.07599	T	0.82	0.01813	N	0.035	0.01004	-0.9135	0.46415	T	0.010	0.03492	T	9	0.047419846	0.04058	T	9.19E-4	0.00889	T	0.064	0.18567	.	.	0.0138822411134	0.00435	0.020703910282481648	0.02023	.	.	0.269451141357	0.06069	T	.	.	.	-0.256687	0.13292	T	-0.606489	0.12271	T	0.0260274478999564	0.01409	T	0.0606939	0.00442	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.140	0.30634	B	.	.	-0.571595	0.01651	0.116	0.41969334367691202	0.03062	0.00342	0.01773	N	AEFDBHCI	0.055927	0.10297	N	-1.5270329997039	0.01674	0.07322606	-1.61933844482173	0.01542	0.06986147	0.999968620109732	0.48965	0.475973	0.10046	0	0.601575	0.49859	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.57	-2.35	0.06302	-4.932000	0.00197	.	.	-1.902000	0.00523	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.5391:0.0:0.0:0.4609	5.111	0.14145	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	80980.4	254	chr3	75737590	.	A	G	80980.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-1.318;DP=4255;ExcessHet=48.2876;FS=0;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=53.17;MQRankSum=-12.03;QD=19.35;ReadPosRankSum=0.753;SOR=0.74	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:144,37:181:99:0|1:75737590_A_G:1120,0,5885:75737590	0	0	19	0
chr3	75737608	75737608	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2015G:p.K672R,ZNF717:NM_001290208:exon5:c.A2015G:p.K672R,ZNF717:NM_001290209:exon5:c.A1865G:p.K622R,ZNF717:NM_001324027:exon5:c.A2015G:p.K672R	.	399	323	791	9	0	809	0.556014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.003971670348	.	.	.	.	.	.	.	.	.	.	0.0466805	1215	26028	rs75759940	4.311e-06	4.109e-06	2.835e-06	5.828e-06	5.588e-06	1.55e-06	1.02e-06	2.01e-06	1.32e-06	0	0	0	0	0	0	5.588e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.46513	D	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	3.16	0.07711	T	-0.9	0.24244	N	0.034	0.00942	-0.9500	0.40972	T	0.008	0.02926	T	9	0.049818516	0.04624	T	0.003972	0.09400	T	0.059	0.16972	.	.	0.0138822411134	0.00435	0.005655336952012324	0.00535	.	.	0.307848095894	0.11582	T	.	.	.	-0.255831	0.13391	T	-0.60526	0.12373	T	0.0589383841193725	0.07000	T	0.19898	0.02226	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.13268	B	.	.	1.223152	0.16170	12.37	0.86139736186920213	0.16339	0.00629	0.02767	N	AEDBHCI	0.051131	0.09005	N	-1.64554763938136	0.01054	0.04572823	-1.67922087383407	0.01232	0.05551315	0.99998526063166	0.51787	0.475973	0.10046	0	0.601575	0.49859	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.57	-3.14	0.04928	-0.248000	0.08872	.	.	-1.039000	0.01670	0.792000	0.29619	0.000000	0.08366	0.001000	0.02609	0.0:0.4304:0.3244:0.2451	4.750	0.12430	987	0.02648	Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	87211.4	273	chr3	75737608	.	T	C	87211.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-0.532;DP=4453;ExcessHet=48.2876;FS=0;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=52.93;MQRankSum=-13.33;QD=19.71;ReadPosRankSum=0.507;SOR=0.671	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:155,45:200:99:0|1:75737590_A_G:1423,0,6373:75737590	0	0	19	0
chr3	75737622	75737622	T	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2001T:p.R667S,ZNF717:NM_001290208:exon5:c.A2001T:p.R667S,ZNF717:NM_001290209:exon5:c.A1851T:p.R617S,ZNF717:NM_001324027:exon5:c.A2001T:p.R667S	.	390	339	783	10	0	803	0.542201	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.148	0.00187641351265	.	.	.	.	.	.	.	.	.	.	0.0503688	1311	26028	rs76175438	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	0.49613	D	0.042	0.50226	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	2.96	0.09542	T	-3.88	0.72710	D	0.189	0.20660	-1.0544	0.13198	T	0.045	0.19478	T	9	0.11718443	0.22126	T	0.001876	0.03272	T	0.148	0.39182	.	.	0.0138822411134	0.00435	0.02830632002622666	0.02780	.	.	0.34867143631	0.17727	T	.	.	.	-0.180088	0.23722	T	-0.496461	0.22715	T	0.343506299687112	0.26762	T	0.413359	0.10763	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.582	0.68127	P	.	.	2.295364	0.29365	18.10	0.84579906210778943	0.15375	0.01716	0.05441	N	AEFDBHCI	0.093535	0.18923	N	-0.671626443351997	0.16833	0.8611102	-0.960126716317775	0.10688	0.5399544	0.999967844770143	0.48965	0.475973	0.10046	0	0.601575	0.49859	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.71	0.405	0.15579	-1.876000	0.01725	.	.	0.551000	0.28136	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.2583:0.0:0.0:0.7417	5.213	0.14647	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	89860.4	289	chr3	75737622	.	T	A	89860.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-2.61;DP=4598;ExcessHet=48.2876;FS=0.515;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=53.36;MQRankSum=-13.02;QD=19.7;ReadPosRankSum=-0.634;SOR=0.643	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:168,44:212:99:0|1:75737590_A_G:1342,0,6922:75737590	0	0	19	0
chr3	75737651	75737651	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C1972T:p.R658C,ZNF717:NM_001290208:exon5:c.C1972T:p.R658C,ZNF717:NM_001290209:exon5:c.C1822T:p.R608C,ZNF717:NM_001324027:exon5:c.C1972T:p.R658C	.	400	343	772	7	0	786	0.533967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.00153184105349	.	.	.	.	.	.	.	.	.	.	0.0285462	743	26028	rs77826574	6.031e-05	7.327e-05	6.658e-05	5.386e-05	0.0004	4.978e-05	4.582e-05	9.298e-05	6.561e-05	3.182e-05	0.0002	0	5.661e-05	0	0.0004	5.584e-05	0.0001	7.603e-05	5.383e-05	7.906e-05	6.569e-05	4.138e-05	0.0002	2.611e-05	1.869e-05	1.982e-05	1.131e-05	5.043e-05	0	6.658e-05	0	0	0	0	5.922e-05	0	0.0002	0.067	0.35918	T	0.169	0.30534	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	5.42	0.00999	T	-3.07	0.63207	D	0.105	0.08925	-0.8711	0.50446	T	0.003	0.01026	T	9	0.085398704	0.14414	T	0.001532	0.02394	T	0.133	0.36157	.	.	0.0482279557977	0.04254	0.024591376914232316	0.02410	.	.	0.41199272871	0.26732	T	.	.	.	-0.203544	0.20296	T	-0.530154	0.19270	T	0.177544683043135	0.19078	T	0.0464954	0.00331	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.238	0.47195	B	.	.	1.962068	0.24926	16.58	0.86866792728357911	0.16827	0.00357	0.01833	N	AEFDBHCI	0.053804	0.09728	N	-0.680381306712077	0.16582	0.8460908	-0.915126681668579	0.11737	0.5997874	0.999961843561367	0.48965	0.460665	0.09802	0	0.546412	0.12157	0	0.575934	0.27490	0	0.756233	0.99697	0	.	.	1.71	0.774	0.17665	-0.426000	0.07076	.	.	-0.244000	0.07312	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.185:0.0:0.5297:0.2853	2.500	0.04348	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	88261.4	293	chr3	75737651	.	G	A	88261.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=1.6;DP=4568;ExcessHet=48.2876;FS=0.521;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=54.19;MQRankSum=-11.6;QD=19.54;ReadPosRankSum=-0.826;SOR=0.662	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:163,42:205:99:0|1:75737590_A_G:1273,0,6718:75737590	0	0	19	0
chr3	75737676	75737676	A	T	exonic	ZNF717	.	stopgain	ZNF717:NM_001128223:exon5:c.T1947A:p.C649X,ZNF717:NM_001290208:exon5:c.T1947A:p.C649X,ZNF717:NM_001290209:exon5:c.T1797A:p.C599X,ZNF717:NM_001324027:exon5:c.T1947A:p.C649X	.	512	238	765	7	0	779	0.620717	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0560934	1460	26028	rs79635065	0	6.854e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.025	0.00485	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.356406	0.86974	D	0.274176	0.86805	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.913720	0.80871	27.4	0.97584058415749686	0.34753	0.02032	0.06091	N	AEFDBHCI	0.117194	0.22969	N	-0.0787027714682291	0.38328	2.243117	-0.47253526279424	0.22914	1.246949	0.999961225158915	0.48965	0.460665	0.09802	0	0.546412	0.12157	0	0.575934	0.27490	0	0.756233	0.99697	0	.	.	1.71	1.71	0.23429	0.625000	0.24171	.	.	0.517000	0.23534	0.432000	0.26424	0.000000	0.08366	0.002000	0.04165	0.6786:0.0:0.0:0.3214	3.984	0.08997	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	82829.4	287	chr3	75737676	.	A	T	82829.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=1.8;DP=4351;ExcessHet=48.2876;FS=2.445;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=54.86;MQRankSum=-9.984;QD=19.33;ReadPosRankSum=0.013;SOR=0.552	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:162,35:197:99:0|1:75737590_A_G:982,0,6697:75737590	0	0	19	0
chr3	75737840	75737840	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G1783A:p.E595K,ZNF717:NM_001290208:exon5:c.G1783A:p.E595K,ZNF717:NM_001290209:exon5:c.G1633A:p.E545K,ZNF717:NM_001324027:exon5:c.G1783A:p.E595K	.	370	419	727	6	0	739	0.468611	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.000881827712362	.	.	.	.	.	.	.	.	.	.	0.0177117	461	26028	rs76496075	2.859e-06	4.104e-06	4.231e-06	1.449e-06	3.707e-06	6.7e-07	4.5e-07	8.7e-07	5.9e-07	0	0	0	0	0	0	3.707e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.30656	T	0.022	0.57587	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.2	0.07236	T	-2.3	0.51157	N	0.164	0.17278	-1.0162	0.24948	T	0.024	0.10058	T	9	0.10873449	0.20253	T	8.82E-4	0.00800	T	0.063	0.18251	.	.	0.0138822411134	0.00435	0.00774685412423065	0.00739	.	.	0.43924510479	0.30473	T	.	.	.	-0.112376	0.34376	T	-0.399197	0.33477	T	0.387678323599846	0.28476	T	0.0947905	0.00704	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.193	0.41357	B	.	.	1.271536	0.16702	12.71	0.99193801633277179	0.55053	0.00456	0.02204	N	AEFDBHCI	0.032518	0.03688	N	-0.56728006039535	0.19945	1.047804	-0.791629829841235	0.14701	0.7694518	0.999948745414493	0.47345	0.0	0.00013	3	0.636889	0.57051	0	0.473483	0.07196	2	0.0	0.00009	3	.	.	1.9	0.993	0.18943	-0.240000	0.08970	.	.	0.415000	0.20742	0.000000	0.06391	0.000000	0.08366	0.023000	0.12082	0.0:0.8279:0.0:0.1721	6.443	0.21064	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4722	46731.8	276	chr3	75737840	.	C	T	46731.8	.	AC=17;AF=0.472;AN=36;BaseQRankSum=-2.149;DP=4419;ExcessHet=31.086;FS=11.167;InbreedingCoeff=-0.8537;MLEAC=18;MLEAF=0.5;MQ=58.89;MQRankSum=-4.862;QD=12.26;ReadPosRankSum=-0.338;SOR=0.935	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:170,19:189:99:0|1:75737814_C_T:277,0,6764:75737814	1	0	17	1
chr3	98133456	98133460	ACCCC	-	exonic	OR5H1	.	frameshift deletion	OR5H1:NM_001005338:exon1:c.759_763del:p.P254Sfs*14	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.704e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	487.75	41	chr3	98133455	.	GACCCC	G	487.75	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.825;DP=1767;ExcessHet=0.3672;FS=79.695;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=1.63;ReadPosRankSum=0.637;SOR=8.015	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:86,9:95:29:0|1:98133455_GACCCC_G:29,0,3412:98133455	16	0	3	0
chr3	98133456	98133460	ACCCC	0	exonic	OR5H1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	3550.9	41	chr3	98133456	.	ACCCC	*	3550.9	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-2.085;DP=1915;ExcessHet=4.0268;FS=132.409;InbreedingCoeff=-0.2667;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=3.91;ReadPosRankSum=1.07;SOR=10.732	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:86,9:95:29:0|1:98133455_GACCCC_G:29,0,3412:98133455	16	0	3	0
chr3	98133457	98133457	C	0	exonic	OR5H1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3636	412.34	59	chr3	98133457	.	C	*	412.34	.	AC=8;AF=0.364;AN=22;BaseQRankSum=-2.924;DP=1837;ExcessHet=5.3738;FS=137.077;InbreedingCoeff=-0.52;MLEAC=11;MLEAF=0.5;MQ=60;MQRankSum=0;QD=0.42;ReadPosRankSum=3.2;SOR=10.885	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:86,9:95:29:0|1:98133455_GACCCC_G:29,0,3412:98133455	3	0	8	8
chr3	98133459	98133459	C	0	exonic	OR5H1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3182	378.48	59	chr3	98133459	.	C	*	378.48	.	AC=7;AF=0.318;AN=22;BaseQRankSum=-1.973;DP=1809;ExcessHet=4.0268;FS=142.708;InbreedingCoeff=-0.4616;MLEAC=10;MLEAF=0.455;MQ=59.99;MQRankSum=0;QD=0.44;ReadPosRankSum=2.4;SOR=10.859	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:86,9:95:29:0|1:98133455_GACCCC_G:29,0,3412:98133455	4	0	7	8
chr3	98133460	98133460	-	GGGGG	exonic	OR5H1	.	frameshift insertion	OR5H1:NM_001005338:exon1:c.763_764insGGGGG:p.L255Rfs*33	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	4817.21	59	chr3	98133460	.	C	CGGGGG	4817.21	.	AC=3;AF=0.125;AN=24;BaseQRankSum=-0.619;DP=1799;ExcessHet=6.9875;FS=160.379;InbreedingCoeff=-0.5511;MLEAC=4;MLEAF=0.167;MQ=60;MQRankSum=0;QD=4.46;ReadPosRankSum=1.07;SOR=11.277	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:86,8:94:22:0|1:98133455_GACCCC_G:22,0,3414:98133455	9	0	3	7
chr3	98133463	98133463	C	G	exonic	OR5H1	.	nonsynonymous SNV	OR5H1:NM_001005338:exon1:c.C766G:p.L256V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.00126498386421	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.052e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.43085	D	0.068	0.44106	T	0.005	0.12996	B	0.053	0.25678	B	0.261193	0.15311	N	0.542116	1	0.08975	N	0.915	0.23335	L	0.99	0.41750	T	-2.16	0.48850	N	0.126	0.11912	-1.0038	0.28814	T	0.079	0.31466	T	10	0.049896806	0.04644	T	0.001265	0.01708	T	0.026	0.05648	0.296	0.26041	0.128392430309	0.12331	0.03494044702375308	0.03441	0.301753269651	0.32506	0.278658390045	0.07306	T	0.006	0.05345	T	-0.262441	0.12617	T	-0.614755	0.11603	T	0.125886231660843	0.14996	T	0.469153	0.13854	T	0.1777599	0.38759	0.102822304	0.24655	0.1777599	0.38758	0.102822304	0.24654	-4.104	0.25349	T	.	.	0.129	0.31151	B	.;.	.;.	1.199857	0.15918	12.19	0.77165719573394564	0.11763	0.00876	0.03464	N	AEFI	0.031298	0.03314	N	-1.1071760963484	0.06514	0.3000934	-1.14194788532371	0.06913	0.3344078	1.71832632022719E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.57	0.621	0.16817	-1.594000	0.02198	.	.	0.385000	0.20450	0.000000	0.06391	0.000000	0.08366	0.108000	0.18652	0.1779:0.4335:0.1738:0.2148	1.131	0.01639	773	0.48803	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1111	2226.54	47	chr3	98133463	.	C	G	2226.54	.	AC=4;AF=0.111;AN=36;BaseQRankSum=-4.732;DP=1356;ExcessHet=1.3;FS=121.465;InbreedingCoeff=-0.1665;MLEAC=4;MLEAF=0.111;MQ=60;MQRankSum=0;QD=3.89;ReadPosRankSum=0.706;SOR=9.766	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:90,8:98:10:0|1:98133455_GACCCC_G:10,0,3512:98133455	14	0	4	1
chr3	99790960	99790960	T	C	exonic	COL8A1	.	nonsynonymous SNV	COL8A1:NM_020351:exon3:c.T278C:p.I93T,COL8A1:NM_001850:exon4:c.T278C:p.I93T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.239	0.0464175628527	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	7.534e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.024	0.56640	D	0.002	0.09854	B	0.007	0.12992	B	0.626423	0.05786	N	1.175870	0.998827	0.21877	N	1.5	0.37844	L	-2.79	0.91019	D	-4.27	0.76254	D	0.444	0.48227	-0.6140	0.64238	T	0.561	0.84031	D	10	0.18345827	0.33673	T	0.046418	0.62447	D	0.239	0.54358	0.357	0.35897	0.924347348687	0.92358	0.366193068856577	0.36533	0.285142599056	0.30925	0.492204546928	0.37745	T	0.095194	0.53627	T	0.0488784	0.58199	T	-0.167566	0.57666	T	0.802636981010437	0.46533	D	0.765923	0.40508	T	0.12284405	0.28857	0.0740384	0.16153	0.12284405	0.28857	0.0740384	0.16153	-4.304	0.28232	T	.	.	0.398	0.59970	A	.;.;.;.	.;.;.;.	3.398026	0.47076	22.4	0.99758335663458786	0.84851	0.91648	0.53968	D	AEBCI	0.380408	0.46306	N	-0.289187463698073	0.29565	1.640657	-0.0947472757979899	0.35606	2.062034	0.99999992535184	0.74766	0.67177	0.52595	0	0.573888	0.26702	0	0.573888	0.23631	0	0.711	0.71501	0	.	.	5.86	5.86	0.93936	5.505000	0.66698	5.012000	0.46677	0.665000	0.62972	0.997000	0.40164	1.000000	0.68203	0.987000	0.62547	0.0:0.0:0.0:1.0	14.197	0.65220	290	0.88477	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1765	676.44	33	chr3	99790960	.	T	C	676.44	.	AC=6;AF=0.176;AN=34;BaseQRankSum=-2.432;DP=2376;ExcessHet=2.0135;FS=86.712;InbreedingCoeff=-0.2304;MLEAC=7;MLEAF=0.206;MQ=60;MQRankSum=0;QD=0.73;ReadPosRankSum=0.172;SOR=11.394	GT:AD:DP:GQ:PL	0/1:105,35:140:52:52,0,1703	11	0	6	2
chr3	108633032	108633032	G	A	exonic	DZIP3	.	nonsynonymous SNV	DZIP3:NM_014648:exon9:c.G776A:p.R259Q	.	.	.	.	.	.	.	.	.	.	.	3431316	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.111	0.0243717534182	7.7e-05	0.000399361	0.0002	0	0	0	0	9.013e-05	0	0.0012	0.0001876	29	154602	rs201597941	0.0002	0.0002	0.0002	0.0002	0.0007	0.0002	0.0002	0.0006	0.0005	6.784e-05	3.017e-05	0	0	0	0.0002	0.0002	0.0003	0.0007	7.904e-05	7.877e-05	0.0001	4.042e-05	0.0002	4.507e-05	3.52e-05	7.921e-05	6.003e-05	2.411e-05	0	0	0	0	0	0	0.0001	0	0.0002	0.082	0.33254	T	0.0	0.92824	D	0.996	0.68779	D	0.591	0.50479	P	0.001203	0.39820	N	0.000000	0.730061	0.29838	N	0.695	0.17993	N	0.84	0.47477	T	-0.52	0.19933	N	0.587	0.60749	-0.9968	0.30810	T	0.102	0.37618	T	10	0.035321593	0.01776	T	0.024372	0.47357	T	0.111	0.31313	.	.	0.647389606501	0.64446	0.38536747165432234	0.38451	0.274934000933	0.29976	0.511389613152	0.40416	T	0.036363	0.29359	T	-0.349812	0.04739	T	-0.353245	0.38832	T	0.221993193030357	0.21563	T	0.891311	0.62583	D	0.09772749	0.23040	0.066096	0.13489	0.09772749	0.23040	0.066096	0.13489	-3.003	0.10213	T	.	.	0.439	0.61669	A	.;.;.	.;.;.	4.474707	0.69757	25.4	0.99946948472894992	0.99913	0.85673	0.44831	D	AEFBI	0.474022	0.51846	N	0.293753230408805	0.55830	3.747254	0.34475955802971	0.58193	3.988399	0.69487161490405	0.22630	0.693126	0.56070	0	0.659464	0.62310	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	4.39	4.39	0.52211	4.228000	0.58419	11.355000	0.92579	0.616000	0.49467	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	12.304	0.54212	856	0.34373	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	651.33	33	chr3	108633032	.	G	A	651.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.282;DP=698;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.04;ReadPosRankSum=-0.211;SOR=0.712	GT:AD:DP:GQ:PL	0/1:47,34:81:99:665,0,1084	18	0	1	0
chr3	113604938	113604938	G	A	exonic	SIDT1	.	nonsynonymous SNV	SIDT1:NM_001322296:exon12:c.G1180A:p.A394T,SIDT1:NM_001322295:exon13:c.G1282A:p.A428T,SIDT1:NM_001322297:exon13:c.G913A:p.A305T,SIDT1:NM_001322298:exon13:c.G823A:p.A275T,SIDT1:NM_001322300:exon13:c.G85A:p.A29T,SIDT1:NM_001308350:exon14:c.G1366A:p.A456T,SIDT1:NM_001322294:exon14:c.G1366A:p.A456T,SIDT1:NM_001322299:exon14:c.G625A:p.A209T,SIDT1:NM_017699:exon14:c.G1366A:p.A456T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.210	0.0198736149308	.	.	.	.	.	.	.	.	.	.	.	.	.	rs61732220	1.573e-05	1.71e-05	2.45e-05	6.876e-06	1.978e-05	1.048e-05	8.75e-06	1.295e-05	1.106e-05	0	0	0	0	0	0	1.978e-05	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.292	0.15149	T	0.301	0.20293	T	0.638	0.40359	P	0.233	0.38358	B	0.000207	0.47681	D	0.090977	1	0.81001	D	1.7	0.43825	L	1.92	0.23082	T	-1.76	0.41618	N	0.756	0.75466	-1.1283	0.01865	T	0.073	0.29707	T	10	0.46264225	0.59379	T	0.019874	0.42339	T	0.210	0.50028	0.383	0.40134	0.19670166235	0.19296	0.48691926618123405	0.48611	0.415299196279	0.42189	0.779643476009	0.78874	T	0.04268	0.26261	T	-0.00635083	0.50775	T	-0.231413	0.51636	T	0.592169055780045	0.36091	D	0.948505	0.80194	D	0.05438607	0.10428	0.14314298	0.34029	0.05438607	0.10427	0.14314298	0.34028	-9.875	0.73196	D	.	.	0.115	0.22861	B	.;.	.;.	3.549740	0.49897	22.9	0.98740288698236856	0.45497	0.99316	0.94394	D	AEFDBI	0.893901	0.83232	D	0.342504737347378	0.58345	4.006176	0.422457802370167	0.62967	4.52143	0.999999999999794	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.88	5.88	0.94564	9.884000	0.98542	9.810000	0.81742	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.039000	0.14166	0.0:0.0:1.0:0.0	20.244	0.98395	571	0.70397	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1413.33	33	chr3	113604938	.	G	A	1413.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.483;DP=755;ExcessHet=0;FS=0.782;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.04;ReadPosRankSum=-1.041;SOR=0.792	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:56,38:94:99:0|1:113604938_G_A:1427,0,2198:113604938	18	0	1	0
chr3	115676196	115676196	G	C	exonic	GAP43	.	nonsynonymous SNV	GAP43:NM_002045:exon2:c.G214C:p.A72P,GAP43:NM_001130064:exon3:c.G322C:p.A108P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.0138723661589	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.164e-06	0.0001	6.814e-06	5.506e-06	0.0002	2.9e-06	2.1e-06	2.62e-06	1.69e-06	0	0	0	0	0	0.0002	6.304e-06	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	0.48186	D	0.116	0.48594	T	0.371	0.34093	B	0.27	0.39872	B	0.026388	0.25927	N	0.380184	1	0.08975	N	1.935	0.51832	L	0.81	0.48460	T	-1.44	0.36385	N	0.115	0.13055	-0.9747	0.36191	T	0.114	0.40559	T	10	0.13199726	0.25123	T	0.013872	0.33594	T	0.066	0.19193	0.401	0.43081	0.482646159919	0.47895	0.13216878396780574	0.13141	0.27922568898	0.30403	0.315461575985	0.12734	T	0.20433	0.56307	T	-0.115191	0.33911	T	-0.403241	0.33007	T	0.650220215320587	0.38471	D	0.59824	0.32735	T	0.29186904	0.52166	0.3267469	0.58579	0.29186904	0.52166	0.3267469	0.58578	-5.243	0.39376	T	.	.	0.142	0.35247	B	.;.	.;.	2.241624	0.28623	17.86	0.9963283397870325	0.76142	0.37808	0.25845	N	AEFBI	0.528119	0.54978	D	-0.309158098030579	0.28799	1.591533	-0.403764697157965	0.24886	1.36534	1.52725511360971E-4	0.05650	0.693126	0.56070	0	0.573888	0.26702	0	0.659464	0.59346	0	0.542086	0.14980	0	.	.	4.62	3.74	0.42108	2.136000	0.41744	2.479000	0.32931	0.676000	0.76740	0.127000	0.23295	0.120000	0.22892	0.064000	0.16252	0.1644:0.1547:0.6809:0.0	6.183	0.19696	935	0.14827	Neuromodulin (GAP-43), 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	.	.	.	.	.	.	.	.	0.05263	90.93	76	chr3	115676196	.	G	C	90.93	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-3.197;DP=1627;ExcessHet=0.119;FS=169.168;InbreedingCoeff=-0.059;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=0.52;ReadPosRankSum=0.362;SOR=10.505	GT:AD:DP:GQ:PL	0/1:62,26:90:61:61,0,1272	17	0	2	0
chr3	121533037	121533037	A	C	exonic	POLQ	.	nonsynonymous SNV	POLQ:NM_199420:exon6:c.T913G:p.S305A	.	426	1093	3	0	0	3	0.00137049	.	.	.	3210139	POLQ-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.084	0.0287951423964	0.0022	0.00159744	0.0016	0.0004	0.0007	0	0.0014	0.0026	0.0022	0.0004	0.0017982	278	154602	rs61757736	0.0027	0.0027	0.0028	0.0026	0.0032	0.0026	0.0026	0.0031	0.0031	0.0006	0.0015	0	0	0.0016	0.0021	0.0032	0.0028	0.0002	0.0021	0.0021	0.0022	0.0020	0.0036	0.0019	0.0018	0.0032	0.0031	0.0002	0.0088	0.0020	0	0	0.0012	0.0034	0.0036	0.0028	0.0006	0.235	0.18000	T	0.404	0.14818	T	0.069	0.23796	B	0.076	0.28435	B	0.154786	0.17851	N	0.629187	0.768435	0.29463	N	0.71	0.18616	N	-0.5	0.70480	T	-1.82	0.42763	N	0.458	0.49511	-0.8746	0.50181	T	0.176	0.52115	T	10	0.012671828	0.00271	T	0.028795	0.51417	D	0.084	0.24469	.	.	0.621764943585	0.61869	0.4122820358535492	0.41144	0.137002657953	0.15452	0.436821252108	0.30143	T	0.082176	0.36767	T	-0.367536	0.03721	T	-0.300861	0.44635	T	0.0147433689241096	0.00308	T	0.50325	0.15827	T	0.24800208	0.47783	0.15590806	0.36525	0.24800208	0.47783	0.15590806	0.36524	-5.885	0.45307	T	0.8201010947346068	0.89326	0.119	0.24430	B	.;.	.;.	2.941689	0.39111	20.9	0.98921917824416949	0.48583	0.94995	0.63057	D	AEFBI	0.229477	0.35299	N	-0.233693670461218	0.31759	1.784074	-0.0305461986709249	0.38341	2.257606	0.141890274065905	0.17288	0.651	0.46895	0	0.653731	0.59785	0	0.608884	0.39905	0	0.683762	0.67416	0	.	.	5.29	4.05	0.46415	3.383000	0.52206	8.980000	0.78490	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.7415:0.2585:0.0:0.0	11.742	0.51064	271	0.89373	.;.	.	.	.	.	.	Likely benign	0	0	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	0.020202	0.004076	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	936.33	33	chr3	121533037	.	A	C	936.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.902;DP=745;ExcessHet=0;FS=1.628;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.46;ReadPosRankSum=-1.455;SOR=0.884	GT:AD:DP:GQ:PL	0/1:56,43:99:99:950,0,1436	18	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	.	.	.	.	.	.	.	.	0.3824	984.38	130	chr3	121697608	.	C	T	984.38	.	AC=13;AF=0.382;AN=34;BaseQRankSum=-3.025;DP=2253;ExcessHet=13.8672;FS=218.138;InbreedingCoeff=-0.6104;MLEAC=14;MLEAF=0.412;MQ=60;MQRankSum=0;QD=0.7;ReadPosRankSum=0.975;SOR=12.96	GT:AD:DP:GQ:PL	0/1:69,34:110:99:105,0,1265	4	0	13	2
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	.	.	.	.	.	.	.	.	0.4211	2855.05	66	chr3	128055734	.	T	C	2855.05	.	AC=16;AF=0.421;AN=38;BaseQRankSum=-2.098;DP=1413;ExcessHet=25.4433;FS=109.351;InbreedingCoeff=-0.7273;MLEAC=16;MLEAF=0.421;MQ=60;MQRankSum=0;QD=2.39;ReadPosRankSum=1.13;SOR=11.386	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:57,23:80:99:0|1:128055734_T_C:221,0,1201:128055734	3	0	16	0
chr3	130421335	130421335	G	C	exonic	COL6A5	.	nonsynonymous SNV	COL6A5:NM_001278298:exon27:c.G5012C:p.G1671A,COL6A5:NM_153264:exon27:c.G5012C:p.G1671A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.734	0.176336760823	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0050	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0.0003	0	4.02e-05	5.624e-05	0	0	0.0002	0.0001	5.098e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.011	0.64786	D	.	.	.	.	.	.	.	.	.	.	0.511236	0.31821	D	.	.	.	-6.27	0.99601	D	-4.41	0.77391	D	0.838	0.83371	1.074	0.98698	D	0.984	0.99524	D	9	0.9859581	0.98878	D	0.176337	0.85213	D	0.734	0.90721	0.961	0.99598	0.862445812811	0.86111	0.899606335700418	0.89932	0.247077292364	0.27244	0.620524644852	0.55803	T	0.407117	0.76282	T	0.482482	0.93793	D	0.455275	0.93714	D	0.994999051094055	0.86650	D	0.931207	0.74412	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.470	0.63186	A	.	.	5.124875	0.85741	28.7	0.99596083398483337	0.73925	0.95070	0.63328	D	AEFBI	0.655440	0.62778	D	0.702238441851499	0.79779	7.150365	0.633624628633071	0.77398	6.671322	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	.	.	.	.	.	.	.	.	0.2188	5712.42	63	chr3	130421335	.	G	C	5712.42	.	AC=7;AF=0.219;AN=32;BaseQRankSum=-0.729;DP=1224;ExcessHet=20.8569;FS=266.52;InbreedingCoeff=-0.7674;MLEAC=8;MLEAF=0.25;MQ=60;MQRankSum=0;QD=5.89;ReadPosRankSum=1.91;SOR=10.236	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:45,13:64:99:.:.:517,0,1703:.	9	0	7	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	.	.	.	.	.	.	.	.	0.4062	6329.56	63	chr3	130421337	.	T	C	6329.56	.	AC=13;AF=0.406;AN=32;BaseQRankSum=0.201;DP=1213;ExcessHet=25.4433;FS=261.259;InbreedingCoeff=-0.8537;MLEAC=14;MLEAF=0.438;MQ=60;MQRankSum=0;QD=6.15;ReadPosRankSum=1.66;SOR=10.386	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:45,28:73:99:0|1:130421337_T_C:681,0,1208:130421337	3	0	13	3
chr3	132661022	132661022	A	T	exonic	UBA5	.	startloss	UBA5:NM_001321238:exon1:c.A1T:p.M1?	Epileptic encephalopathy, early infantile, 44, Autosomal recessive	430	1090	2	0	0	2	0.00091659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1273684442	1.613e-06	3.42e-06	1.586e-06	1.642e-06	1.012e-06	2.7e-07	1e-07	.	.	0	0	0	0	0	0	1.012e-06	2.049e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999999	0.18198	N	.	.	.	.	.	.	-1.91	0.44471	N	.	.	-0.9517	0.40678	T	0.090	0.34655	T	5	0.34197617	0.51237	T	.	.	.	0.098	0.28162	0.668	0.80602	0.134007934775	0.12933	.	.	.	.	.	.	.	.	.	.	-0.0330514	0.46973	T	-0.260072	0.48817	T	0.181380183018214	0.19322	T	0.9	0.65058	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.046218	0.03975	0.896	0.63989409519199902	0.07371	0.01528	0.05033	N	AEFDGBHCI	0.011511	0.00103	N	-0.751709458244778	0.14587	0.7278707	-0.983611820774777	0.10153	0.5095631	0.999994095773244	0.74766	0.266657	0.04791	1	0.484254	0.07192	0	0.043771	0.00183	3	0.249971	0.05119	0	.	.	3.05	-2.49	0.06034	-1.084000	0.03503	-0.309000	0.10054	0.658000	0.54486	0.000000	0.06391	0.000000	0.08366	0.176000	0.21171	0.3983:0.2035:0.3982:0.0	4.088	0.09432	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	.	.	.	.	.	.	.	.	0.02632	747.33	39	chr3	132661022	.	A	T	747.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.565;DP=714;ExcessHet=0;FS=0.94;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.05;ReadPosRankSum=0.613;SOR=0.826	GT:AD:DP:GQ:PL	0/1:32,30:62:99:761,0,790	18	0	1	0
chr3	133811163	133811163	G	C	exonic	SRPRB	.	nonsynonymous SNV	SRPRB:NM_001379313:exon4:c.G374C:p.R125T,SRPRB:NM_021203:exon5:c.G374C:p.R125T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.593	0.080248268715	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.005	0.72224	D	1.0	0.90584	D	0.999	0.92359	D	0.059867	0.22291	N	0.419105	1	0.81001	D	2.465	0.71551	M	1.64	0.27822	T	-5.99	0.89401	D	0.971	0.98167	-0.6921	0.60810	T	0.217	0.57967	T	10	0.98317224	0.98439	D	0.080248	0.73418	D	0.593	0.83802	0.911	0.98230	0.666577489966	0.66377	0.6595841042932219	0.65895	0.981204246999	0.73746	0.735932707787	0.72374	T	0.302427	0.67483	T	0.274107	0.80805	D	0.155959	0.80558	D	0.9972163438797	0.91033	D	0.931007	0.74365	D	0.7757549	0.82394	0.7889489	0.87580	0.7757549	0.82395	0.7889489	0.87581	-15.17	0.96239	D	.	.	0.996	0.95886	P	.	.	6.145521	0.94664	34	0.986594790397188	0.44303	0.99798	0.99538	D	AEFBI	0.919974	0.89128	D	0.884315895857466	0.90969	10.65269	0.862540314803169	0.93726	12.23806	0.999999999997681	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.44	5.44	0.79348	9.317000	0.95419	11.685000	0.94275	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	19.271	0.93996	817	0.41665	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	34.38	33	chr3	133811163	.	G	C	34.38	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.287;DP=1203;ExcessHet=0;FS=190.343;InbreedingCoeff=-0.0301;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.17;ReadPosRankSum=0.191;SOR=7.864	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:171,29:200:48:0|1:133811157_G_C:48,0,6082:133811157	18	0	1	0
chr3	133811164	133811164	G	C	exonic	SRPRB	.	nonsynonymous SNV	SRPRB:NM_001379313:exon4:c.G375C:p.R125S,SRPRB:NM_021203:exon5:c.G375C:p.R125S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.365	0.0395363560954	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	4.788e-06	1.361e-06	0	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.004	0.74150	D	1.0	0.90584	D	0.999	0.92359	D	0.059867	0.22291	N	0.419105	0.999998	0.58761	D	2.7	0.79018	M	1.67	0.27331	T	-5.99	0.89401	D	0.975	0.98563	-0.9814	0.34678	T	0.142	0.46386	T	10	0.9769599	0.97506	D	0.039536	0.58866	D	0.365	0.68495	0.885	0.97081	0.513448892127	0.50984	0.6556272041057072	0.65498	0.850424933985	0.68512	0.70716047287	0.68180	T	0.301519	0.67397	T	0.214912	0.75294	D	0.0709292	0.74972	D	0.98602956533432	0.76852	D	0.926607	0.72946	D	0.7467684	0.80681	0.6180993	0.77761	0.7467684	0.80682	0.6180993	0.77762	-14.899	0.95611	D	.	.	0.993	0.94496	P	.	.	4.289479	0.65400	24.8	0.99740139576912379	0.83409	0.92031	0.54792	D	AEFBI	0.540829	0.55723	D	0.357132536362098	0.59118	4.088559	0.289358020393427	0.54918	3.65547	0.877412702490473	0.25545	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.44	2.24	0.27264	0.441000	0.21325	2.252000	0.31695	0.676000	0.76740	0.998000	0.41325	1.000000	0.68203	0.999000	0.91618	0.2987:0.0:0.7013:0.0	7.683	0.27690	817	0.41665	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1071	99.18	152	chr3	133811164	.	G	C	99.18	.	AC=3;AF=0.107;AN=28;BaseQRankSum=-3.731;DP=2066;ExcessHet=0.3672;FS=124.298;InbreedingCoeff=-0.1832;MLEAC=4;MLEAF=0.143;MQ=60;MQRankSum=0;QD=0.19;ReadPosRankSum=1.55;SOR=9.419	GT:AD:DP:GQ:PL	0/1:170,23:195:34:34,0,6097	11	0	3	5
chr3	141444594	141444594	A	G	exonic	ZBTB38	.	nonsynonymous SNV	ZBTB38:NM_001376164:exon3:c.A2206G:p.M736V,ZBTB38:NM_001376166:exon3:c.A2206G:p.M736V,ZBTB38:NM_001376176:exon3:c.A2206G:p.M736V,ZBTB38:NM_001376180:exon3:c.A2206G:p.M736V,ZBTB38:NM_001376183:exon3:c.A2206G:p.M736V,ZBTB38:NM_001376188:exon3:c.A2206G:p.M736V,ZBTB38:NM_001350100:exon4:c.A2206G:p.M736V,ZBTB38:NM_001376119:exon4:c.A2206G:p.M736V,ZBTB38:NM_001376127:exon4:c.A2206G:p.M736V,ZBTB38:NM_001376152:exon4:c.A2206G:p.M736V,ZBTB38:NM_001376157:exon4:c.A2206G:p.M736V,ZBTB38:NM_001376162:exon4:c.A2206G:p.M736V,ZBTB38:NM_001376163:exon4:c.A2206G:p.M736V,ZBTB38:NM_001376168:exon4:c.A2206G:p.M736V,ZBTB38:NM_001376172:exon4:c.A2206G:p.M736V,ZBTB38:NM_001376175:exon4:c.A2206G:p.M736V,ZBTB38:NM_001376179:exon4:c.A2206G:p.M736V,ZBTB38:NM_001376181:exon4:c.A2206G:p.M736V,ZBTB38:NM_001376184:exon4:c.A2206G:p.M736V,ZBTB38:NM_001376185:exon4:c.A2206G:p.M736V,ZBTB38:NM_001376186:exon4:c.A2206G:p.M736V,ZBTB38:NM_001376187:exon4:c.A2206G:p.M736V,ZBTB38:NM_001376189:exon4:c.A2206G:p.M736V,ZBTB38:NM_001376190:exon4:c.A2206G:p.M736V,ZBTB38:NM_001376115:exon5:c.A2206G:p.M736V,ZBTB38:NM_001376120:exon5:c.A2206G:p.M736V,ZBTB38:NM_001376126:exon5:c.A2206G:p.M736V,ZBTB38:NM_001376128:exon5:c.A2206G:p.M736V,ZBTB38:NM_001376142:exon5:c.A2206G:p.M736V,ZBTB38:NM_001376158:exon5:c.A2206G:p.M736V,ZBTB38:NM_001376159:exon5:c.A2206G:p.M736V,ZBTB38:NM_001376165:exon5:c.A2206G:p.M736V,ZBTB38:NM_001376167:exon5:c.A2206G:p.M736V,ZBTB38:NM_001376169:exon5:c.A2206G:p.M736V,ZBTB38:NM_001376170:exon5:c.A2206G:p.M736V,ZBTB38:NM_001376171:exon5:c.A2206G:p.M736V,ZBTB38:NM_001376173:exon5:c.A2206G:p.M736V,ZBTB38:NM_001376174:exon5:c.A2206G:p.M736V,ZBTB38:NM_001376177:exon5:c.A2206G:p.M736V,ZBTB38:NM_001376178:exon5:c.A2206G:p.M736V,ZBTB38:NM_001376182:exon5:c.A2206G:p.M736V,ZBTB38:NM_001350099:exon6:c.A2206G:p.M736V,ZBTB38:NM_001376113:exon6:c.A2206G:p.M736V,ZBTB38:NM_001376116:exon6:c.A2206G:p.M736V,ZBTB38:NM_001376125:exon6:c.A2206G:p.M736V,ZBTB38:NM_001376143:exon6:c.A2206G:p.M736V,ZBTB38:NM_001376150:exon6:c.A2206G:p.M736V,ZBTB38:NM_001376160:exon6:c.A2206G:p.M736V,ZBTB38:NM_001376161:exon6:c.A2206G:p.M736V,ZBTB38:NM_001376112:exon7:c.A2206G:p.M736V,ZBTB38:NM_001376114:exon7:c.A2206G:p.M736V,ZBTB38:NM_001376117:exon7:c.A2206G:p.M736V,ZBTB38:NM_001376118:exon7:c.A2206G:p.M736V,ZBTB38:NM_001080412:exon8:c.A2206G:p.M736V,ZBTB38:NM_001376121:exon8:c.A2206G:p.M736V,ZBTB38:NM_001376122:exon8:c.A2206G:p.M736V,ZBTB38:NM_001376123:exon8:c.A2206G:p.M736V,ZBTB38:NM_001376124:exon8:c.A2206G:p.M736V	.	423	1087	12	0	0	12	0.00548948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.0024486076659	.	0.000798722	0.0007	0	0.0010	0	0	0.0002	0.0033	0.0030	0.0005821	90	154602	rs200730943	0.0003	0.0003	0.0002	0.0004	0.0073	0.0003	0.0003	0.0055	0.0049	0.0001	0.0007	0.0002	0	0	0.0073	9.622e-05	0.0005	0.0028	0.0002	0.0002	0.0002	0.0003	0.0025	0.0002	0.0002	0.0014	0.0011	0	0	0.0008	0.0003	0	0	0.0102	0.0001	0.0005	0.0025	0.816	0.02989	T	1.0	0.10000	T	0.0	0.02946	B	0.0	0.01387	B	0.275978	0.03802	N	1.462160	1	0.08975	N	0.975	0.24501	L	3.86	0.06762	T	0.02	0.06739	N	0.069	0.04790	-0.9476	0.41380	T	0.012	0.04510	T	9	0.003121525	0.00052	T	0.002449	0.04840	T	0.014	0.01968	0.205	0.12076	0.0675242888579	0.06100	0.028373563987510994	0.02787	0.41830726126	0.42424	0.221770316362	0.01415	T	0.002988	0.02391	T	-0.690901	0.00041	T	-0.768886	0.02805	T	0.00933414055993115	0.00119	T	0.512749	0.16428	T	0.022477835	0.00914	0.038824305	0.03837	0.022477835	0.00914	0.038824305	0.03837	-1.419	0.01606	T	.	.	0.060	0.01577	B	.;.;.;.;.	.;.;.;.;.	-0.755340	0.01198	0.059	0.78649343985980003	0.12392	0.04484	0.10099	N	AEFBI	0.036923	0.04997	N	-1.0779048504822	0.07052	0.3264602	-1.0628154479985	0.08442	0.4150934	0.999810907957028	0.43459	0.706548	0.73137	0	0.702456	0.74545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.4	-2.69	0.05668	-0.813000	0.04598	-1.625000	0.05036	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.908000	0.44358	0.3922:0.2299:0.3778:0.0	7.134	0.24694	821	0.40814	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005539	0.000000	0.004076	0.011696	0.000000	0.017241	0.006098	0.003788	0.02632	1454.33	34	chr3	141444594	.	A	G	1454.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.848;DP=854;ExcessHet=0;FS=2.062;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.96;ReadPosRankSum=0.244;SOR=0.776	GT:AD:DP:GQ:PL	0/1:80,66:146:99:1468,0,2137	18	0	1	0
chr3	157381267	157381267	G	C	exonic	VEPH1	.	nonsynonymous SNV	VEPH1:NM_001167911:exon7:c.C1016G:p.S339C,VEPH1:NM_001167912:exon7:c.C1016G:p.S339C,VEPH1:NM_024621:exon7:c.C1016G:p.S339C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.00405651869442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.706e-05	0.0015	3.271e-05	2.14e-05	3.398e-05	2.012e-05	1.762e-05	2.487e-05	2.207e-05	3.089e-05	0	0	0	0	0	3.398e-05	1.71e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.37118	T	0.094	0.39799	T	0.016	0.17332	B	0.006	0.12133	B	0.007582	0.31308	N	0.359250	0.787702	0.29261	N	1.43	0.35840	L	3.01	0.09075	T	-1.91	0.46337	N	0.318	0.36674	-1.0854	0.06335	T	0.025	0.10464	T	10	0.14302394	0.27159	T	0.004057	0.09681	T	0.047	0.12962	0.413	0.45052	0.203808441222	0.19973	0.21481885595038	0.21397	0.0389899136919	0.04147	0.438936650753	0.30431	T	0.149031	0.48786	T	-0.240838	0.15241	T	-0.583723	0.14213	T	0.213982076796247	0.21159	T	0.79972	0.44511	T	0.09153386	0.21449	0.07893088	0.17725	0.09153386	0.21449	0.07893088	0.17725	-7.287	0.56309	T	.	.	0.085	0.11269	B	.;.;.	.;.;.	3.162719	0.42862	21.6	0.91500678835389826	0.20774	0.88574	0.48565	D	AEFDBI	0.301950	0.41033	N	-0.0840343711138489	0.38093	2.225797	0.083874411417393	0.43736	2.669398	0.99938992129566	0.39415	0.706548	0.73137	0	0.588015	0.36545	0	0.696353	0.63694	0	0.714379	0.83352	0	.	.	5.47	5.47	0.80345	1.981000	0.40250	9.905000	0.82381	0.676000	0.76740	0.996000	0.39380	1.000000	0.68203	0.848000	0.40082	0.0:0.1414:0.7122:0.1463	10.655	0.44865	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	.	.	.	.	.	.	.	.	0.2692	7167.82	34	chr3	157381267	.	G	C	7167.82	.	AC=7;AF=0.269;AN=26;BaseQRankSum=-5.676;DP=3389;ExcessHet=2.9153;FS=97.701;InbreedingCoeff=-0.3571;MLEAC=9;MLEAF=0.346;MQ=60;MQRankSum=0;QD=4.37;ReadPosRankSum=1.58;SOR=11.319	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:204,67:271:99:0|1:157381266_G_C:2062,0,8344:157381266	6	0	7	6
chr3	157381269	157381269	G	C	exonic	VEPH1	.	nonsynonymous SNV	VEPH1:NM_001167911:exon7:c.C1014G:p.F338L,VEPH1:NM_001167912:exon7:c.C1014G:p.F338L,VEPH1:NM_024621:exon7:c.C1014G:p.F338L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.234	0.00696849747109	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.197e-05	0.0013	1.98e-05	2.414e-05	2.814e-05	1.574e-05	1.372e-05	1.996e-05	1.733e-05	0	0	0	0	0	0	2.814e-05	1.703e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.51853	D	0.075	0.43344	T	0.986	0.61523	D	0.716	0.54713	P	0.000000	0.84330	D	0.052188	0.999883	0.50402	D	1.79	0.46772	L	2.8	0.11082	T	-2.64	0.60827	D	0.629	0.64308	-1.1573	0.00823	T	0.050	0.21300	T	10	0.65501356	0.69822	D	0.006968	0.18458	T	0.234	0.53644	0.566	0.68768	0.380052290102	0.37618	0.540766503490007	0.54001	0.0497134926514	0.05451	0.693336129189	0.66186	T	0.39328	0.75273	T	-0.0694684	0.41412	T	-0.337563	0.40622	T	0.937143862247467	0.60670	D	0.890411	0.63503	D	0.3446262	0.56645	0.22055541	0.46835	0.3446262	0.56645	0.22055541	0.46834	-10.426	0.76421	D	.	.	0.981	0.91639	P	.;.;.	.;.;.	4.365249	0.67160	25.1	0.99181655721304818	0.54701	0.98496	0.83394	D	AEFDBI	0.895770	0.83615	D	0.298767961957114	0.56086	3.772896	0.29353445057777	0.55160	3.679457	0.999999819584022	0.74766	0.706548	0.73137	0	0.588015	0.36545	0	0.696353	0.63694	0	0.714379	0.83352	0	.	.	5.47	4.6	0.56512	7.371000	0.78858	5.894000	0.50799	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.814000	0.38357	0.0755:0.0:0.9245:0.0	13.320	0.59864	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	.	.	.	.	.	.	.	.	0.2188	7212.82	34	chr3	157381269	.	G	C	7212.82	.	AC=7;AF=0.219;AN=32;BaseQRankSum=-7.275;DP=3440;ExcessHet=2.9153;FS=99.936;InbreedingCoeff=-0.2881;MLEAC=8;MLEAF=0.25;MQ=60;MQRankSum=0;QD=4.39;ReadPosRankSum=1.67;SOR=11.347	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:203,67:270:99:0|1:157381266_G_C:2065,0,8323:157381266	9	0	7	3
chr3	157381272	157381276	GGTGT	-	exonic	VEPH1	.	frameshift deletion	VEPH1:NM_001167911:exon7:c.1007_1011del:p.D336Vfs*24,VEPH1:NM_001167912:exon7:c.1007_1011del:p.D336Vfs*24,VEPH1:NM_024621:exon7:c.1007_1011del:p.D336Vfs*24	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	5885.78	34	chr3	157381271	.	AGGTGT	A	5885.78	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-4.455;DP=3692;ExcessHet=2.0135;FS=95.914;InbreedingCoeff=-0.1875;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=4.15;ReadPosRankSum=1.27;SOR=10.978	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:204,46:260:99:.:.:1854,0,8378:.	15	0	4	0
chr3	157381272	157381272	G	0	exonic	VEPH1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2727	1091.63	209	chr3	157381272	.	G	*	1091.63	.	AC=6;AF=0.273;AN=22;BaseQRankSum=-2.892;DP=3520;ExcessHet=2.9153;FS=103.783;InbreedingCoeff=-0.418;MLEAC=8;MLEAF=0.364;MQ=60;MQRankSum=0;QD=0.69;ReadPosRankSum=0.932;SOR=11.441	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:204,46:260:99:.:.:1854,0,8378:.	5	0	6	8
chr3	157381273	157381273	G	0	exonic	VEPH1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	1096.8	48	chr3	157381273	.	G	*	1096.8	.	AC=4;AF=0.167;AN=24;BaseQRankSum=-5.988;DP=3340;ExcessHet=1.3;FS=103.783;InbreedingCoeff=-0.2903;MLEAC=5;MLEAF=0.208;MQ=60;MQRankSum=0;QD=0.95;ReadPosRankSum=1.08;SOR=10.769	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:204,46:260:99:.:.:1854,0,8378:.	8	0	4	7
chr3	157381275	157381275	G	0	exonic	VEPH1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1176	1702.6	48	chr3	157381275	.	G	*	1702.6	.	AC=4;AF=0.118;AN=34;BaseQRankSum=-1.075;DP=3134;ExcessHet=2.9153;FS=96.253;InbreedingCoeff=-0.2905;MLEAC=4;MLEAF=0.118;MQ=60;MQRankSum=0;QD=1.06;ReadPosRankSum=0.952;SOR=11.305	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:201,46:257:99:0|1:157381266_G_C:1863,0,8252:157381266	13	0	4	2
chr3	157381276	157381276	-	CCCCC	exonic	VEPH1	.	frameshift insertion	VEPH1:NM_001167911:exon7:c.1006_1007insGGGGG:p.D336Gfs*19,VEPH1:NM_001167912:exon7:c.1006_1007insGGGGG:p.D336Gfs*19,VEPH1:NM_024621:exon7:c.1006_1007insGGGGG:p.D336Gfs*19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1111	3348.89	48	chr3	157381276	.	T	TCCCCC	3348.89	.	AC=4;AF=0.111;AN=36;BaseQRankSum=-3.683;DP=1968;ExcessHet=0.7564;FS=96.049;InbreedingCoeff=-0.1343;MLEAC=4;MLEAF=0.111;MQ=60;MQRankSum=0;QD=3.65;ReadPosRankSum=1.12;SOR=10.212	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:211,46:257:99:0|1:157381266_G_C:351,0,8515:157381266	14	0	4	1
chr3	179623963	179623963	G	C	exonic	NDUFB5	.	nonsynonymous SNV	NDUFB5:NM_001199957:exon4:c.G337C:p.D113H,NDUFB5:NM_001199958:exon5:c.G386C:p.R129T,NDUFB5:NM_002492:exon6:c.G493C:p.D165H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.0806083610803	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.003	0.76473	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	-0.04	0.63240	T	-5.48	0.88224	D	0.931	0.93605	-0.1401	0.79162	T	0.410	0.75852	T	9	0.9509015	0.94426	D	0.080608	0.73498	D	0.681	0.88300	0.804	0.92230	0.716271271468	0.71378	0.9058208730488819	0.90555	0.781304724026	0.65305	0.509268164635	0.40119	T	0.456411	0.79518	T	0.20708	0.74555	D	0.0596797	0.74223	D	0.998048782348633	0.93084	D	0.907609	0.67324	D	0.88413477	0.90010	0.7096465	0.82875	0.88413477	0.90011	0.7096465	0.82875	-2.739	0.20238	T	.	.	0.935	0.85485	P	.;.;.	.;.;.	3.938161	0.57613	23.9	0.99620339343689335	0.75353	0.97698	0.76492	D	AEFBI	0.905132	0.85626	D	0.457902356998463	0.64654	4.724727	0.520580993976032	0.69377	5.351571	0.99866222271968	0.37413	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.17	5.17	0.70848	6.774000	0.74807	11.579000	0.93331	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.169000	0.20946	0.0:0.0:1.0:0.0	17.447	0.87474	696	0.58299	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	244.85	35	chr3	179623963	.	G	C	244.85	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.595;DP=985;ExcessHet=0;FS=89.534;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=2.19;ReadPosRankSum=3.07;SOR=6.735	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:92,20:112:99:0|1:179623963_G_C:238,0,3647:179623963	18	0	1	0
chr3	179623965	179623965	T	C	exonic	NDUFB5	.	nonsynonymous SNV	NDUFB5:NM_001199958:exon5:c.T388C:p.W130R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.911e-06	7.209e-05	5.595e-06	4.223e-06	4.609e-06	2.04e-06	1.31e-06	1.35e-06	9.8e-07	0	0	0	0	3.954e-05	0	4.609e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	-0.63	0.18459	N	0.216	0.24135	-0.6731	0.61688	T	0.257	0.62744	T	5	0.18694821	0.34183	T	.	.	.	0.026	0.05648	0.427	0.47350	0.642851068427	0.63989	.	.	.	.	.	.	.	0.020626	0.16209	T	-0.187287	0.22658	T	-0.506801	0.21643	T	0.103307284206534	0.12717	T	0.265773	0.04346	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.176	0.38569	B	.;.	.;.	-0.256571	0.02815	0.388	0.96799615222830182	0.31146	0.24487	0.22409	N	AEFBI	0.119912	0.23382	N	-0.120171839563191	0.36516	2.111697	-0.134043431856465	0.34028	1.952845	0.00856043913646686	0.11698	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.17	2.76	0.31527	-0.517000	0.06360	-3.582000	0.02679	-0.711000	0.03940	0.658000	0.28243	0.000000	0.08366	0.137000	0.19835	0.0:0.1615:0.0:0.8385	8.627	0.33056	696	0.58299	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	250.83	35	chr3	179623965	.	T	C	250.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.405;DP=974;ExcessHet=0.119;FS=89.534;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=1.25;ReadPosRankSum=3.04;SOR=6.735	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:92,20:112:99:0|1:179623963_G_C:238,0,3647:179623963	17	0	2	0
chr3	179623966	179623966	G	C	exonic	NDUFB5	.	nonsynonymous SNV	NDUFB5:NM_001199957:exon4:c.G340C:p.G114R,NDUFB5:NM_001199958:exon5:c.G389C:p.W130S,NDUFB5:NM_002492:exon6:c.G496C:p.G166R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.0882672381383	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.064e-06	6.021e-05	2.739e-06	1.383e-06	1.807e-06	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	0	1.879e-05	0	1.807e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.137	0.32141	T	0.165	0.45961	T	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	0.75	0.50192	T	-4.46	0.78388	D	0.888	0.88687	-0.1401	0.79162	T	0.410	0.75852	T	9	0.8808993	0.87400	D	0.088267	0.75100	D	0.456	0.75483	0.739	0.87147	0.566919426312	0.56356	0.7376073152616416	0.73705	0.783907768696	0.65412	0.677991628647	0.63980	T	0.153633	0.49457	T	0.27209	0.80629	D	0.153062	0.80378	D	0.99599552154541	0.88464	D	0.823718	0.48487	T	0.61235124	0.73354	0.39464846	0.64153	0.61235124	0.73355	0.39464846	0.64153	-1.995	0.08463	T	.	.	0.903	0.82925	P	.;.;.	.;.;.	4.282394	0.65240	24.8	0.99925815286718667	0.99042	0.97711	0.76584	D	AEFBI	0.923417	0.89987	D	0.466383344546995	0.65140	4.784983	0.531954369807172	0.70153	5.463319	0.99866222271968	0.37413	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.17	5.17	0.70848	6.774000	0.74807	11.579000	0.93331	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.140000	0.19946	0.0:0.0:1.0:0.0	17.447	0.87474	696	0.58299	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	254.13	35	chr3	179623966	.	G	C	254.13	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-3.054;DP=992;ExcessHet=0.119;FS=89.092;InbreedingCoeff=-0.064;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=1.27;ReadPosRankSum=3.04;SOR=6.735	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:92,20:112:99:0|1:179623963_G_C:238,0,3647:179623963	17	0	2	0
chr3	179623967	179623967	G	C	exonic	NDUFB5	.	nonsynonymous SNV	NDUFB5:NM_001199957:exon4:c.G341C:p.G114A,NDUFB5:NM_001199958:exon5:c.G390C:p.W130C,NDUFB5:NM_002492:exon6:c.G497C:p.G166A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.182	0.12197857641	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.854e-07	3.148e-05	0	1.378e-06	9.011e-07	0	0	.	.	0	0	0	0	0	0	9.011e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.437	0.22400	T	0.356	0.20293	T	0.999	0.77913	D	0.99	0.78936	D	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	0.8	0.48769	T	-3.38	0.67359	D	0.654	0.70702	-0.1401	0.79162	T	0.410	0.75852	T	9	0.8367439	0.82829	D	0.121979	0.80285	D	0.312	0.63375	0.735	0.86806	0.6236463853	0.62058	0.6873497321933157	0.68674	0.733095003342	0.62821	0.602588236332	0.53270	T	0.262495	0.63407	T	0.126212	0.66989	D	-0.0564815	0.66576	D	0.994511246681213	0.85849	D	0.922708	0.71908	D	0.6165376	0.73578	0.3834939	0.63311	0.6165376	0.73579	0.3834939	0.63311	-3.903	0.22348	T	.	.	0.686	0.72384	P	.;.;.	.;.;.	4.102283	0.61177	24.3	0.99815934126713535	0.89973	0.97711	0.76584	D	AEFBI	0.917384	0.88491	D	0.466819051696706	0.65162	4.788135	0.532535031141129	0.70190	5.469161	0.99866222271968	0.37413	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.17	5.17	0.70848	6.774000	0.74807	11.579000	0.93331	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.138000	0.19872	0.0:0.0:1.0:0.0	17.447	0.87474	696	0.58299	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	253.83	35	chr3	179623967	.	G	C	253.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-3.949;DP=890;ExcessHet=0.119;FS=89.092;InbreedingCoeff=-0.0555;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=1.27;ReadPosRankSum=3.04;SOR=6.735	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:92,20:112:99:0|1:179623963_G_C:238,0,3647:179623963	17	0	2	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	.	.	.	.	.	.	.	.	0.1316	282.38	45	chr3	179875393	.	T	C	282.38	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-4.704;DP=2013;ExcessHet=1.3;FS=118.802;InbreedingCoeff=-0.1516;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=0.33;ReadPosRankSum=1.7;SOR=10.823	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:144,36:180:72:.:.:72,0,3109:.	14	0	5	0
chr3	183758909	183758909	A	G	exonic	YEATS2	.	nonsynonymous SNV	YEATS2:NM_001351369:exon13:c.A1600G:p.T534A,YEATS2:NM_001351370:exon13:c.A1603G:p.T535A,YEATS2:NM_001351371:exon13:c.A1600G:p.T534A,YEATS2:NM_018023:exon13:c.A1600G:p.T534A	.	434	1070	16	2	0	20	0.00925926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.00644576973245	0.0005	0.000798722	0.0012	0.0002	0.0003	0.0001	0	0.0010	0.0011	0.0044	0.0011125	172	154602	rs151134207	0.0010	0.0011	0.0009	0.0011	0.0080	0.0010	0.0010	0.0062	0.0055	0.0004	0.0005	0.0118	0	0	0.0080	0.0005	0.0021	0.0049	0.0007	0.0007	0.0007	0.0008	0.0046	0.0006	0.0006	0.0031	0.0026	9.619e-05	0	0.0014	0.0063	0.0002	0	0	0.0005	0.0028	0.0046	0.121	0.27783	T	0.193	0.28210	T	0.002	0.09854	B	0.002	0.06944	B	0.050432	0.23072	N	0.426796	0.930975	0.27058	N	0.55	0.14455	N	1.62	0.28189	T	-1.15	0.29525	N	0.101	0.08366	-1.0310	0.20131	T	0.023	0.09741	T	10	0.0034987628	0.00062	T	0.006446	0.16956	T	0.025	0.05312	.	.	0.043077524339	0.03247	0.1511654164816643	0.15038	0.101752101259	0.11512	0.354154497385	0.18531	T	0.021974	0.17024	T	-0.657884	0.00065	T	-0.717652	0.04910	T	0.00480504175451121	0.00052	T	0.568143	0.20156	T	0.027486753	0.01947	0.035520084	0.02821	0.027486753	0.01947	0.035520084	0.02820	-3.292	0.13634	T	.	.	0.075	0.05711	B	.	.	1.408825	0.18239	13.63	0.90428604438978444	0.19688	0.75346	0.36886	D	AEFGBI	0.087966	0.17834	N	-0.554371110846177	0.20347	1.071928	-0.384748616274632	0.25452	1.399723	0.00896655278382044	0.11772	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.22	1.49	0.21966	1.355000	0.33671	2.664000	0.33900	-0.094000	0.16080	0.996000	0.39380	1.000000	0.68203	0.833000	0.39279	0.6501:0.1322:0.2177:0.0	5.754	0.17430	644	0.63734	.	.	.	.	.	.	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	0.008056	0.005051	0.006793	0.011696	0.050000	0.017241	0.015244	0.000000	0.02632	1160.33	37	chr3	183758909	.	A	G	1160.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.361;DP=827;ExcessHet=0;FS=0.778;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.61;ReadPosRankSum=-0.515;SOR=0.596	GT:AD:DP:GQ:PL	0/1:41,51:92:99:1174,0,923	18	0	1	0
chr3	184032869	184032869	C	-	exonic	HTR3D	.	frameshift deletion	HTR3D:NM_001163646:exon1:c.39delC:p.L14Sfs*14	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.144e-07	6.84e-07	0	1.449e-06	1.262e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.262e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1411.29	37	chr3	184032868	.	TC	T	1411.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.406;DP=719;ExcessHet=0;FS=0.772;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.86;ReadPosRankSum=-0.413;SOR=0.582	GT:AD:DP:GQ:PL	0/1:48,47:95:99:1425,0,1492	18	0	1	0
chr3	184353348	184353348	G	A	exonic	CLCN2	.	nonsynonymous SNV	CLCN2:NM_001171088:exon16:c.C1798T:p.R600C,CLCN2:NM_001171087:exon17:c.C1879T:p.R627C,CLCN2:NM_001171089:exon17:c.C1930T:p.R644C,CLCN2:NM_004366:exon17:c.C1930T:p.R644C	Leukoencephalopathy with ataxia, Autosomal recessive	0	1509	13	0	0	13	0.00428901	.	.	.	214428	not_provided|Familial_hyperaldosteronism_type_II|Leukoencephalopathy_with_mild_cerebellar_ataxia_and_white_matter_edema|Epilepsy,_idiopathic_generalized,_susceptibility_to,_11|CLCN2-related_disorder	MedGen:C3661900|MONDO:MONDO:0011576,MedGen:C1854107,OMIM:605635,Orphanet:404|MONDO:MONDO:0014292,MedGen:C4554120,OMIM:615651,Orphanet:363540|MONDO:MONDO:0011875,MedGen:C2750893,OMIM:607628,Orphanet:307|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.702	0.386947497132	0.0008	0.00219649	0.0020	9.899e-05	0.0013	0	0	0.0013	0.0022	0.0079	0.001727	267	154602	rs148545588	0.0016	0.0016	0.0014	0.0018	0.0080	0.0015	0.0015	0.0075	0.0073	0.0003	0.0014	0.0080	0	0	0.0021	0.0011	0.0026	0.0080	0.0014	0.0014	0.0014	0.0014	0.0081	0.0013	0.0012	0.0061	0.0054	0.0004	0	0.0029	0.0092	0	0	0.0068	0.0012	0.0019	0.0081	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.051901	1	0.81001	D	3.12	0.87914	M	-2.4	0.88455	D	-6.68	0.92391	D	0.857	0.88356	0.654	0.92593	D	0.766	0.92037	D	10	0.017526686	0.00375	T	0.386947	0.93101	D	0.702	0.89284	.	.	0.973735163585	0.97345	0.5790541243793773	0.57834	1.12173174847	0.78316	0.567868113518	0.48376	T	0.596564	0.87008	D	-0.0294601	0.47496	T	0.190174	0.82580	D	0.135102088183494	0.15845	T	0.959804	0.85735	D	0.6149127	0.73491	0.41207558	0.65421	0.6035984	0.72885	0.45449358	0.68281	-10.281	0.76109	D	0.8525024356825835	0.91826	0.230	0.48613	B	.;.;.;.	.;.;.;.	5.041179	0.83904	28.2	0.99941098437012743	0.99797	0.98525	0.83712	D	AEFGBI	0.743447	0.68675	D	0.783182918296974	0.85043	8.459995	0.745799855015292	0.85841	8.703133	0.999999977104317	0.74766	0.706548	0.73137	0	0.588066	0.40923	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.62	5.62	0.85714	2.897000	0.48363	9.889000	0.82259	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.825000	0.38878	0.0:0.0:0.8499:0.1501	14.153	0.64936	911	0.21964	.;.;.;.	.	.	.	.	.	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	0.000000	0.000000	0.050000	0.000000	0.003049	0.015152	0.02632	1179.33	39	chr3	184353348	.	G	A	1179.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.665;DP=819;ExcessHet=0;FS=2.22;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.16;ReadPosRankSum=-1.269;SOR=0.417	GT:AD:DP:GQ:PL	0/1:29,44:73:99:1193,0,731	18	0	1	0
chr3	184383641	184383641	C	T	exonic	CHRD	.	nonsynonymous SNV	CHRD:NM_001304472:exon12:c.C1439T:p.T480M,CHRD:NM_001304474:exon12:c.C329T:p.T110M,CHRD:NM_003741:exon12:c.C1439T:p.T480M,CHRD:NM_001304473:exon13:c.C329T:p.T110M	.	426	1070	25	1	0	27	0.0124596	0.0002	0.432	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	.	0.0009	0.00259585	0.0033	0.0003	0.0014	0	0	0.0015	0.0060	0.0194	0.0028201	436	154602	rs148110430	0.0023	0.0023	0.0018	0.0028	0.0182	0.0022	0.0022	0.0175	0.0172	0.0004	0.0014	0.0084	0	1.887e-05	0.0082	0.0011	0.0034	0.0182	0.0017	0.0017	0.0014	0.0019	0.0168	0.0015	0.0014	0.0138	0.0127	0.0004	0	0.0025	0.0095	0	0	0	0.0011	0.0019	0.0168	0.299	0.14595	T	0.195	0.28032	T	0.005	0.15914	B	0.008	0.16460	B	0.500723	0.11953	N	0.775315	1	0.28427	N	-0.895	0.01383	N	0.91	0.44856	T	0.16	0.05217	N	0.145	0.15046	-1.0543	0.13225	T	0.032	0.13635	T	10	0.005623102	0.00125	T	.	.	.	0.053	0.14996	.	.	0.3349148499	0.33108	0.267500168626317	0.26663	0.329577118065	0.35066	0.27541744709	0.06861	T	0.154211	0.49540	T	-0.670204	0.00055	T	-0.721198	0.04738	T	0.00852393164526867	0.00104	T	0.548145	0.18826	T	0.017565088	0.00283	0.05225572	0.08571	0.017565088	0.00283	0.05225572	0.08571	-7.487	0.57519	T	.	.	0.059	0.00904	B	.;.	.;.	-1.893159	0.00128	0.002	0.66460612514951911	0.08065	0.00100	0.00648	N	AEFDGBI	0.117417	0.23003	N	-2.28030372182783	0.00050	0.002165339	-2.35579059314567	0.00050	0.002186274	0.999999987198871	0.74766	0.580535	0.33130	0	0.563428	0.19063	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	4.27	-8.54	0.00794	-2.386000	0.01139	-6.623000	0.01348	-1.848000	0.00574	0.010000	0.18352	0.000000	0.08366	0.015000	0.10482	0.0:0.5354:0.1039:0.3607	11.140	0.47622	901	0.24189	CHRD|CHRD|CHRD;CHRD|CHRD|CHRD	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005629	0.000000	0.001366	0.002959	0.000000	0.000000	0.015625	0.015625	0.02632	2278.33	52	chr3	184383641	.	C	T	2278.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.593;DP=974;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.95;ReadPosRankSum=0.797;SOR=0.688	GT:AD:DP:GQ:PL	0/1:79,97:176:99:2292,0,1735	18	0	1	0
chr3	193448239	193448239	T	C	exonic	ATP13A4	.	nonsynonymous SNV	ATP13A4:NM_032279:exon18:c.A2119G:p.I707V	.	419	1082	21	0	0	21	0.00961098	.	.	.	3199835	ATP13A4-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.051	.	0.0011	0.00798722	0.0053	0.0002	0.0016	0.0001	0	0.0015	0.0044	0.0316	0.0047541	735	154602	rs139578706	0.0028	0.0028	0.0020	0.0036	0.0284	0.0027	0.0027	0.0275	0.0271	0.0001	0.0015	0.0009	7.557e-05	0	0.0173	0.0011	0.0030	0.0284	0.0020	0.0020	0.0016	0.0025	0.0340	0.0019	0.0018	0.0297	0.0281	0.0001	0	0.0024	0.0006	0.0002	0	0.0204	0.0013	0.0024	0.0340	0.311	0.14064	T	0.311	0.19660	T	0.027	0.19556	B	0.038	0.23361	B	0.004371	0.33816	N	0.249276	0.96754	0.25844	N	0.965	0.23975	L	-0.25	0.67011	T	0.01	0.06868	N	0.326	0.37509	-0.9742	0.36301	T	0.092	0.34983	T	10	0.0068852603	0.00156	T	.	.	.	0.051	0.14325	.	.	0.630113592811	0.62709	0.14474421721900954	0.14397	0.137857802033	0.15542	0.44773003459	0.31633	T	0.306865	0.67905	T	-0.496828	0.00596	T	-0.464806	0.26078	T	0.0173163278083805	0.00471	T	0.375062	0.09032	T	0.12286591	0.28863	0.09017917	0.21131	0.12286591	0.28863	0.09017917	0.21131	-7.554	0.57989	D	.	.	0.073	0.04681	B	.;.	.;.	2.349307	0.30116	18.34	0.97513264720364456	0.34363	0.91546	0.53756	D	AEFBI	0.421381	0.48782	N	-0.202024640915687	0.33050	1.870798	-0.00907672235147589	0.39303	2.328322	0.507512550410884	0.20993	0.553676	0.25195	0	0.547309	0.14657	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	4.84	4.84	0.62125	2.637000	0.46219	1.888000	0.29498	0.665000	0.62972	0.752000	0.29155	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	13.540	0.61128	883	0.28872	.;.	.	.	.	.	.	Likely benign	0	0	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	0.010070	0.000000	0.008152	0.017544	0.000000	0.017241	0.006098	0.018939	0.05263	1879.83	38	chr3	193448239	.	T	C	1879.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.048;DP=817;ExcessHet=0.119;FS=1.071;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=8.7;ReadPosRankSum=1.31;SOR=0.798	GT:AD:DP:GQ:PL	0/1:59,46:105:99:1012,0,1576	17	0	2	0
chr3	195519068	195519068	A	G	exonic	PPP1R2	.	nonsynonymous SNV	PPP1R2:NM_001291505:exon4:c.T443C:p.M148T,PPP1R2:NM_001291504:exon5:c.T524C:p.M175T,PPP1R2:NM_006241:exon5:c.T521C:p.M174T,PPP1R2:NM_001316325:exon6:c.T461C:p.M154T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	0.0133850550382	.	.	8.239e-06	0	0	0	0	0	0	6.057e-05	3.84e-05	1	26028	rs758930365	1.394e-06	2.741e-06	0	2.796e-06	2.341e-05	2.3e-07	9e-08	3.89e-06	1.46e-06	0	0	0	0	0	0	0	0	2.341e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.256	0.16793	T	1.0	0.01155	T	0.985	0.61118	D	0.977	0.73820	D	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	2.545	0.74286	M	.	.	.	-1.14	0.29323	N	0.675	0.68255	-0.3584	0.73310	T	0.406	0.75557	T	9	0.33047637	0.50285	T	0.013385	0.32738	T	0.225	0.52323	0.282	0.23801	0.63470690541	0.63171	0.316806076815987	0.31593	.	.	0.631590008736	0.57371	T	0.166075	0.51217	T	0.0330966	0.56136	T	-0.00808859	0.69810	D	0.4387147128582	0.30382	T	0.646635	0.25786	T	0.24516653	0.47472	0.21074143	0.45473	0.24516653	0.47472	0.21074143	0.45472	-3.2	0.12480	T	.	.	0.342	0.56051	A	.;.	.;.	3.000912	0.40094	21.1	0.87394221429255625	0.17196	0.98867	0.87911	D	AEFGBI	0.803324	0.72850	D	0.637927365369088	0.75590	6.33285	0.617386050681991	0.76201	6.447751	0.809762738365655	0.24334	0.706298	0.61202	0	0.724815	0.89359	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.36	5.36	0.76624	7.412000	0.79304	11.032000	0.85074	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.867000	0.41218	1.0:0.0:0.0:0.0	13.590	0.61421	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	.	.	.	.	.	.	.	.	0.1111	150.95	78	chr3	195519068	.	A	G	150.95	.	AC=4;AF=0.111;AN=36;BaseQRankSum=-3.591;DP=1462;ExcessHet=0.7564;FS=117.019;InbreedingCoeff=-0.1348;MLEAC=4;MLEAF=0.111;MQ=56.47;MQRankSum=-1.328;QD=0.37;ReadPosRankSum=0.956;SOR=8.409	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:71,14:85:31:0|1:195519068_A_G:31,0,2103:195519068	14	0	4	1
chr3	195779036	195779084	TGCTGGTGACAGGAAGAGGGGTGCCGTGACCTGTGGACACTGAGGAAGC	0	exonic	MUC4	.	.	.	.	533	777	11	0	201	212	0.00702875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3182	1615.83	395	chr3	195779036	.	TGCTGGTGACAGGAAGAGGGGTGCCGTGACCTGTGGACACTGAGGAAGC	*	1615.83	.	AC=7;AF=0.318;AN=22;BaseQRankSum=1.48;DP=6040;ExcessHet=0.0735;FS=0;InbreedingCoeff=0.1383;MLEAC=10;MLEAF=0.455;MQ=54.58;MQRankSum=1.44;QD=0.81;ReadPosRankSum=-1.513;SOR=0.691	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:4,268:285:99:1|1:195779036_T_*:9986,501,0:195779036	5	1	5	8
chr3	195779162	195779162	C	A	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.G12418T:p.G4140C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.00257765613358	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.047e-06	3.939e-05	9.277e-06	4.759e-06	0.0003	3.32e-06	2.4e-06	9.5e-07	6.4e-07	0	0	0	0	8.48e-05	0.0003	4.046e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	0.30943	T	0.017	0.60337	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.17	0.37910	T	-1.45	0.35597	N	0.125	0.13911	-1.0616	0.11361	T	0.072	0.29098	T	7	0.122222096	0.23183	T	0.002578	0.05206	T	0.030	0.07022	0.173	0.07894	0.17258766438	0.16869	0.017848761707203956	0.01739	.	.	0.522485077381	0.41976	T	.	.	.	-0.293215	0.09316	T	-0.658959	0.08337	T	0.0762772783696955	0.09504	T	0.788221	0.42759	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.324	0.54789	B	.;.	.;.	2.430453	0.31268	18.69	0.82939869376632058	0.14456	0.00204	0.01168	N	AEFBI	0.094831	0.19168	N	-0.780594731283185	0.13815	0.6834163	-1.05113382156332	0.08684	0.4281571	1.15638432658259E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	.	.	.	-0.125000	0.10555	-0.650000	0.08033	0.083000	0.17575	0.209000	0.24412	0.000000	0.08366	0.006000	0.07323	0.0:0.5069:0.0:0.4931	2.664	0.04729	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	.	.	.	.	.	.	.	.	0.02632	310.43	388	chr3	195779162	.	C	A	310.43	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.642;DP=5788;ExcessHet=0.119;FS=22.886;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.026;MQ=48.82;MQRankSum=1.34;QD=0.83;ReadPosRankSum=3.17;SOR=0.259	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:63,38:101:99:1|0:195779134_A_C:324,0,1448:195779134	18	0	1	0
chr3	195779469	195779516	GCTGGTGACAGGAACAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGG	-	exonic	MUC4	.	nonframeshift deletion	MUC4:NM_018406:exon2:c.12064_12111del:p.P4022_S4037del,MUC4:NM_001322468:exon17:c.10288_10335del:p.Q3430_A4615delinsDTTPLPVTSPSSASTGHATPLLVTDTSSASTGHATPLPVTDASSVSTGHATSLPVTIRSSGSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTMPLPVTSPSSASTGDTTPLPVTDASSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTTSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHATPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATSLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTNVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLHVTDASSVSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTDTSSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGHTTSLPVTDASSVSTGHATSLPVTIPSSASSGHTTPLPVTDASSVPTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPVTDTSSVSTGQATPLPVTSLSSASSTGDTTPLPVTDTSSASTGQDTPLPVTSLFSVSTGDTTPLPVTSPSSASTGHATHLLVTDASSVSTGHATSLLVTDASSVSTGHATALHVTDASSLSTGDTTPLPVTSPSSASTGDTTPLPVTDTSSVSTGHATSLPVTDTSSASTGHATSLPVTDTSSASTGQATPLPVTSPSSASTGHAIPLLVTDTSSASTGQATPLPVTSLSSASTGDTTPLPVTDASSVSTGHATSLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTSPSSASTGHATPLHVTDASSVSTGDTTPLPVTSPSSASSGHTTPLPVTDASSASTGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTDVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLPVTDTPSASTGDTTPLPVTNASSLSTRHATSLHVTSPSSASTGHATPLPVTDTSAASTGHATPLPVTSTSSASTGDTTPLPVTDTSSASTGHATPLPVTNTSSVSTGHATPLHVTSPSSASTGHTTPLPVTDASSVSTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPLTSLSSVSTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTDTSSASTGHATSLPVTDTSSASTGHATPLPVTDTSSISTGHATPLHVTSPSSASTGHATPLPVTDTSSASTGHATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATSLPVTDTSSASTGDTTSLPVTDTSSAYTGDTTSLPVTDTSSSSTGDTTPLLVTETSSASTGDTTPVPVTDTSSVSTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSVSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSLASTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSASTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVSDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSTGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLHVTSPSSSSTGQATPLPVTSTSSVSTGHVTPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTDASSVSTGHATPLPVTDTSSASTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGHATPLAVSSATSASTVSSDSPLKMETSGMTTPSLKTDGGRRTATSPPPTTSQTIISTIPSTAMHTRSTAAPIPILPERGVSLFPYGADAGDLEFVRRTVDFTSPLFKPATGFPLGSSLRDSLYFTDNGQIIFPESDYQIFSYPNPLPTGFTGRDPVALVAPFWDDADFSTGRGTTFYQEYETFYGEHSLLVQQAESWIRKMTNNGGYKARWALKVTWVNAHAYPAQWTLGSNTYQAILSTDGSRSYALFLYQSGGMQWDVAQRSGNPVLMGFSSGDGYFENSPLMSQPVWERYRPDRFLNSNSGLQGLQFYRLHREERPNYRLECLQWLKSQPRWPSWGWNQVSCPCSWQQGRRDLRFQPVSIGRWGLGSRQLCSFTSWRGGVCCSYGPWGEFREGWHVQRPWQLAQELEPQSWCCRWNDKPYLCALYQQRRPHVGCATYRPPQPAWMFGDPHITTLDGVSYTFNGLGDFLLVGAQDGNSSFLLQGRTAQTGSAQATNFIAFAAQYRSSSLGPVTVQWLLEPHDAIRVLLDNQTVTFQPDHEDGGGQETFNATGVLLSRNGSEVSASFDGWATVSVIALSNILHASASLPPEYQNRTEGLLGVWNNNPEDDFRMPNGSTIPPGSPEEMLFHFGMTWQINGTGLLGKRNDQLPSNFTPVFYSQLQKNSSWAEHLISNCDGDSSCIYDTLALRNASIGLHTREVSKNYEQANATLNQYPPSINGGRVIEAYKGQTTLIQYTSNAEDANFTLRDSCTDLELFENGTLLWTPKSLEPFTLEILARSAKIGLASALQPRTVVCHCNAESQCLYNQTSRVGNSSLEVAGCKCDGGTFGRYCEGSEDACEEPCFPSVHCVPGKGCEACPPNLTGDGRHCAALGSSFLCQNQSCPVNYCYNQGHCYISQTLGCQPMCTCPPAFTDSRCFLAGNNFSPTVNLELPLRVIQLLLSEEENASMAEVNASVAYRLGTLDMRAFLRNSQVERIDSAAPASGSPIQHWMVISEFQYRPRGPVIDFLNNQLLAAVVEAFLYHVPRRSEEPRNDVVFQPISGEDVRDVTALNVSTLKAYFRCDGYKGYDLVYSPQSGFTCVSPCSRGYCDHGGQCQHLPSGPRCSCVSFSIYTAWGEHCEHLSMKLDAFFGIFFGALGGLLLLGVGTFVVLRFWGCSGARFSYFLNSAEALP*	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0023	0	0	0.0027	0.0006	0	0.0002	.	.	.	rs758470711	7.774e-05	0.0002	7.662e-05	7.89e-05	0.0009	6.3e-05	5.789e-05	0.0006	0.0005	0.0009	8.155e-05	0.0010	0.0003	0	0	3.678e-05	0.0003	1.82e-05	0.0006	0.0012	0.0006	0.0007	0.0020	0.0004	0.0004	0.0012	0.0010	0.0020	0	0.0002	0.0015	0	0	0	0.0002	0	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02941	39.18	166	chr3	195779468	.	TGCTGGTGACAGGAACAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGG	T	39.18	.	AC=1;AF=0.029;AN=34;BaseQRankSum=-0.987;DP=2601;ExcessHet=0;FS=0;InbreedingCoeff=0.1888;MLEAC=1;MLEAF=0.029;MQ=55.4;MQRankSum=0.645;QD=2.8;ReadPosRankSum=2.87;SOR=0.68	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:12,2:14:52:0|1:195779468_TGCTGGTGACAGGAACAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGG_T:52,0,451:195779468	16	0	1	2
chr3	195779470	195779470	C	0	exonic	MUC4	.	.	.	.	2	173	39	7	5	58	0.132832	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02941	1003.07	166	chr3	195779470	.	C	*	1003.07	.	AC=1;AF=0.029;AN=34;BaseQRankSum=1.9;DP=2566;ExcessHet=0.0128;FS=3.737;InbreedingCoeff=0.4167;MLEAC=1;MLEAF=0.029;MQ=49.72;MQRankSum=2.36;QD=29.5;ReadPosRankSum=0.11;SOR=1.639	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,2:14:67:1|0:195779468_TGCTGGTGACAGGAACAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGG_T:547,459,450:195779468	16	0	1	2
chr3	195779471	195779471	T	0	exonic	MUC4	.	.	.	.	526	856	87	26	27	166	0.0750945	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02941	1003.15	166	chr3	195779471	.	T	*	1003.15	.	AC=1;AF=0.029;AN=34;BaseQRankSum=0.967;DP=2562;ExcessHet=0.0128;FS=3.737;InbreedingCoeff=0.4167;MLEAC=1;MLEAF=0.029;MQ=49.51;MQRankSum=2.36;QD=29.5;ReadPosRankSum=0.493;SOR=1.639	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,2:14:66:1|0:195779468_TGCTGGTGACAGGAACAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGG_T:546,459,451:195779468	16	0	1	2
chr3	195779483	195779483	C	0	exonic	MUC4	.	.	.	.	602	774	90	31	25	177	0.0894118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03125	488.37	166	chr3	195779483	.	C	*	488.37	.	AC=1;AF=0.031;AN=32;BaseQRankSum=-2.799;DP=2577;ExcessHet=0;FS=1.314;InbreedingCoeff=0.7286;MLEAC=1;MLEAF=0.031;MQ=55.19;MQRankSum=-6.237;QD=1.57;ReadPosRankSum=0.05;SOR=0.834	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,2:6:72:1|0:195779468_TGCTGGTGACAGGAACAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGG_T:252,168,162:195779468	15	0	1	3
chr3	195780499	195780499	G	0	exonic	MUC4	.	.	.	.	0	114	53	2	57	114	0.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1471	45874.5	680	chr3	195780499	.	G	*	45874.5	.	AC=5;AF=0.147;AN=34;BaseQRankSum=-0.721;DP=7497;ExcessHet=0.0925;FS=0;InbreedingCoeff=0.2762;MLEAC=5;MLEAF=0.147;MQ=54.24;MQRankSum=1.72;QD=9.76;ReadPosRankSum=-1.183;SOR=0.739	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:3,25:96:99:0|1:195780487_G_T:17464,2149,1048:195780487	12	0	5	2
chr3	195780501	195780501	C	0	exonic	MUC4	.	.	.	.	741	294	218	40	229	527	0.336343	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1765	60340.5	679	chr3	195780501	.	C	*	60340.5	.	AC=6;AF=0.176;AN=34;BaseQRankSum=-0.813;DP=7450;ExcessHet=0.6568;FS=0;InbreedingCoeff=0.0695;MLEAC=6;MLEAF=0.176;MQ=54.57;MQRankSum=-0.334;QD=10.7;ReadPosRankSum=-3.277;SOR=0.676	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:5,25:96:99:0|1:195780478_A_C:17290,1981,964:195780478	11	0	6	2
chr3	195780510	195780510	G	0	exonic	MUC4	.	.	.	.	1	126	41	1	57	100	0.145763	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1765	23279.0	579	chr3	195780510	.	G	*	23279.0	.	AC=6;AF=0.176;AN=34;BaseQRankSum=0.143;DP=7106;ExcessHet=0.0393;FS=0.542;InbreedingCoeff=0.3968;MLEAC=7;MLEAF=0.206;MQ=53.57;MQRankSum=2.52;QD=5.85;ReadPosRankSum=0.034;SOR=0.65	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:5,25:96:99:0|1:195780478_A_C:17229,1921,954:195780478	11	0	6	2
chr3	195780514	195780514	G	0	exonic	MUC4	.	.	.	.	30	98	40	1	57	99	0.176471	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1875	22646.6	579	chr3	195780514	.	G	*	22646.6	.	AC=6;AF=0.188;AN=32;BaseQRankSum=-0.885;DP=7531;ExcessHet=0.061;FS=0;InbreedingCoeff=0.3667;MLEAC=7;MLEAF=0.219;MQ=54.02;MQRankSum=1.88;QD=5.61;ReadPosRankSum=-1.292;SOR=0.666	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:3,25:94:99:0|1:195780478_A_C:17319,2005,954:195780478	10	0	6	3
chr3	195780525	195780527	GTC	0	exonic	MUC4	.	.	.	.	583	681	21	3	234	261	0.0194384	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3077	5023.55	579	chr3	195780525	.	GTC	*	5023.55	.	AC=8;AF=0.308;AN=26;BaseQRankSum=-0.824;DP=7018;ExcessHet=0;FS=1.575;InbreedingCoeff=0.6608;MLEAC=11;MLEAF=0.423;MQ=53.01;MQRankSum=3.61;QD=2.26;ReadPosRankSum=0.247;SOR=0.539	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:4,26:96:99:0|1:195780478_A_C:23260,2347,952:195780478	8	3	2	6
chr3	195780528	195780528	C	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	946.81	579	chr3	195780528	.	C	*	946.81	.	AC=11;AF=0.5;AN=22;BaseQRankSum=2.37;DP=6994;ExcessHet=0.0015;FS=0.606;InbreedingCoeff=0.4909;MLEAC=16;MLEAF=0.727;MQ=53.39;MQRankSum=3.61;QD=0.39;ReadPosRankSum=0.587;SOR=0.632	GT:AD:DP:GQ:PGT:PID:PL:PS	1/0:1,26:96:99:.:.:23353,2439,952:.	4	4	3	8
chr3	195780541	195780541	C	0	exonic	MUC4	.	.	.	.	810	420	40	3	249	295	0.0519187	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4444	949.18	579	chr3	195780541	.	C	*	949.18	.	AC=8;AF=0.444;AN=18;BaseQRankSum=0.261;DP=6540;ExcessHet=0;FS=0;InbreedingCoeff=0.5074;MLEAC=13;MLEAF=0.722;MQ=52.42;MQRankSum=5.65;QD=0.46;ReadPosRankSum=1.99;SOR=0.687	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:16,26:108:99:0|1:195780478_A_C:22720,1843,952:195780478	4	3	2	10
chr3	195780551	195780551	C	0	exonic	MUC4	.	.	.	.	581	671	22	0	248	270	0.016129	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3636	948.16	579	chr3	195780551	.	C	*	948.16	.	AC=8;AF=0.364;AN=22;BaseQRankSum=-1;DP=6344;ExcessHet=0;FS=0;InbreedingCoeff=0.5634;MLEAC=12;MLEAF=0.545;MQ=52.17;MQRankSum=6.12;QD=0.45;ReadPosRankSum=2.54;SOR=0.748	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:24,26:116:99:0|1:195780478_A_C:22360,1507,952:195780478	6	3	2	8
chr3	195780557	195780557	T	0	exonic	MUC4	.	.	.	.	578	675	22	0	247	269	0.016035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	948.49	579	chr3	195780557	.	T	*	948.49	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-1.826;DP=6338;ExcessHet=0;FS=0.682;InbreedingCoeff=0.518;MLEAC=12;MLEAF=0.6;MQ=52.04;MQRankSum=6.88;QD=0.45;ReadPosRankSum=2.14;SOR=0.793	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:28,26:120:99:0|1:195780478_A_C:22180,1339,952:195780478	5	3	2	9
chr3	195780563	195780563	C	0	exonic	MUC4	.	.	.	.	632	621	22	0	247	269	0.0174051	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	942.2	579	chr3	195780563	.	C	*	942.2	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-1.968;DP=6348;ExcessHet=0.0029;FS=0.656;InbreedingCoeff=0.4242;MLEAC=11;MLEAF=0.55;MQ=51.75;MQRankSum=8.81;QD=0.44;ReadPosRankSum=3.83;SOR=0.791	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:42,26:134:99:0|1:195780478_A_C:21854,1044,945:195780478	5	2	3	9
chr3	195780572	195780572	T	0	exonic	MUC4	.	.	.	.	812	434	22	0	254	276	0.0247191	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2778	69.59	579	chr3	195780572	.	T	*	69.59	.	AC=5;AF=0.278;AN=18;BaseQRankSum=1.13;DP=6411;ExcessHet=0.4981;FS=0;InbreedingCoeff=0.1556;MLEAC=8;MLEAF=0.444;MQ=51.42;MQRankSum=9.47;QD=0.03;ReadPosRankSum=4.84;SOR=0.667	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:65,26:157:72:0|1:195780478_A_C:20821,80,944:195780478	4	0	5	10
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	3437.39	679	chr3	195781534	.	TCGGTGACAGGCACAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGGGC	T	3437.39	.	AC=4;AF=0.105;AN=38;BaseQRankSum=5.22;DP=9158;ExcessHet=0.7564;FS=3.274;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=56.05;MQRankSum=-9.668;QD=1.05;ReadPosRankSum=-3.2;SOR=1.173	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:905,123:1028:99:0|1:195781522_A_G:2117,0,36886:195781522	15	0	4	0
chr3	195781535	195781535	C	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1111	354.08	679	chr3	195781535	.	C	*	354.08	.	AC=4;AF=0.111;AN=36;BaseQRankSum=0.668;DP=9232;ExcessHet=1.3;FS=3.311;InbreedingCoeff=-0.1692;MLEAC=4;MLEAF=0.111;MQ=58.31;MQRankSum=-16.18;QD=0.09;ReadPosRankSum=-5.596;SOR=1.191	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:905,123:1028:99:0|1:195781522_A_G:2117,0,36886:195781522	14	0	4	1
chr3	195781555	195781555	G	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	109.65	679	chr3	195781555	.	G	*	109.65	.	AC=2;AF=0.063;AN=32;DP=8430;ExcessHet=0.3672;FS=3.271;InbreedingCoeff=-0.1343;MLEAC=2;MLEAF=0.063;MQ=56.05;QD=0.06;SOR=1.1	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:905,123:1028:99:0|1:195781522_A_G:2117,0,36886:195781522	14	0	2	3
chr3	195781557	195781559	GTC	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	30.65	679	chr3	195781557	.	GTC	*	30.65	.	AC=2;AF=0.063;AN=32;DP=8414;ExcessHet=0.3672;FS=3.271;InbreedingCoeff=-0.1343;MLEAC=2;MLEAF=0.063;MQ=55.86;QD=0.02;SOR=1.095	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:905,123:1028:99:0|1:195781522_A_G:2117,0,36886:195781522	14	0	2	3
chr3	195781583	195781583	T	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2941	7231.06	732	chr3	195781583	.	T	*	7231.06	.	AC=10;AF=0.294;AN=34;BaseQRankSum=-3.763;DP=9189;ExcessHet=8.9063;FS=5.102;InbreedingCoeff=-0.4615;MLEAC=11;MLEAF=0.324;MQ=57.68;MQRankSum=-7.567;QD=1.27;ReadPosRankSum=-4.714;SOR=1.174	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:503,118:734:99:.:.:3488,0,20486:.	7	0	10	2
chr3	195781618	195781666	GCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA	0	exonic	MUC4	.	.	.	.	469	535	446	20	52	538	0.312339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2059	58698.1	630	chr3	195781618	.	GCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA	*	58698.1	.	AC=7;AF=0.206;AN=34;BaseQRankSum=0.997;DP=7467;ExcessHet=0.0541;FS=0;InbreedingCoeff=0.2599;MLEAC=7;MLEAF=0.206;MQ=54.21;MQRankSum=-0.328;QD=11.66;ReadPosRankSum=0.523;SOR=0.714	GT:AD:DP:GQ:PGT:PID:PL:PS	1/0:34,118:467:99:.:.:16495,11488,15171:.	11	1	5	2
chr3	195781628	195781628	C	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	69413.1	655	chr3	195781628	.	C	*	69413.1	.	AC=18;AF=0.5;AN=36;BaseQRankSum=1.32;DP=6779;ExcessHet=0.0128;FS=0.963;InbreedingCoeff=0.468;MLEAC=19;MLEAF=0.528;MQ=55.59;MQRankSum=1.83;QD=11.34;ReadPosRankSum=1.72;SOR=0.782	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,446:463:99:1|1:195781522_A_G:19496,1345,0:195781522	5	5	8	1
chr3	195781829	195781829	C	0	exonic	MUC4	.	.	.	.	519	603	37	10	353	410	0.0451306	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	658.06	322	chr3	195781829	.	C	*	658.06	.	AC=12;AF=0.333;AN=36;BaseQRankSum=-3.153;DP=3409;ExcessHet=2.1068;FS=0;InbreedingCoeff=-0.0836;MLEAC=13;MLEAF=0.361;MQ=36.34;MQRankSum=-1.172;QD=0.24;ReadPosRankSum=-0.678;SOR=0.691	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:89,204:293:99:.:.:5768,0,3195:.	7	1	10	1
chr3	195782353	195782356	GTGA	-	exonic	MUC4	.	frameshift deletion	MUC4:NM_018406:exon2:c.9224_9227del:p.V3075Afs*1183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	3278.29	731	chr3	195782352	.	GGTGA	G	3278.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.04;DP=7962;ExcessHet=0;FS=4.457;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=55.64;MQRankSum=-6.008;QD=5.13;ReadPosRankSum=0.308;SOR=0.715	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:493,146:639:99:0|1:195782352_GGTGA_G:3292,0,15961:195782352	18	0	1	0
chr3	195782358	195782449	AGGAAGCGGGGTGGCGTGACCGGTGGATGCTGAGGAAGGGCTGGTGACATGAAGAGGGTTGGCGTGACCTGTGGATGCTGAGGAAGTGTCGG	-	exonic	MUC4	.	frameshift deletion	MUC4:NM_018406:exon2:c.9131_9222del:p.T3044Sfs*27	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2172.04	731	chr3	195782357	.	CAGGAAGCGGGGTGGCGTGACCGGTGGATGCTGAGGAAGGGCTGGTGACATGAAGAGGGTTGGCGTGACCTGTGGATGCTGAGGAAGTGTCGG	C	2172.04	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.39;DP=8100;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=55.89;MQRankSum=-7.317;QD=5.39;ReadPosRankSum=-2.678;SOR=0.67	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:259,144:443:99:0|1:195782352_GGTGA_G:2888,0,20740:195782352	18	0	1	0
chr3	195782411	195782411	G	0	exonic	MUC4	.	.	.	.	433	1031	56	0	2	58	0.02644	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	236.02	625	chr3	195782411	.	G	*	236.02	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.64;DP=7570;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0857;MLEAC=1;MLEAF=0.026;MQ=57.65;MQRankSum=-3.478;QD=0.19;ReadPosRankSum=-4.439;SOR=0.73	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:259,184:443:99:0|1:195782384_ATGC_*:5531,0,8992:195782384	18	0	1	0
chr3	195782416	195782416	T	0	exonic	MUC4	.	.	.	.	469	990	7	0	56	63	0.0035229	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	168.07	642	chr3	195782416	.	T	*	168.07	.	AC=1;AF=0.063;AN=16;BaseQRankSum=2.85;DP=7506;ExcessHet=0.4139;FS=0;InbreedingCoeff=-0.1462;MLEAC=2;MLEAF=0.125;MQ=56.8;MQRankSum=-8.486;QD=0.14;ReadPosRankSum=-5.271;SOR=0.76	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:209,184:426:99:.:.:7086,0,7604:.	7	0	1	11
chr3	195782507	195782507	G	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1842	6615.26	804	chr3	195782507	.	G	*	6615.26	.	AC=7;AF=0.184;AN=38;BaseQRankSum=0.789;DP=8144;ExcessHet=0.1204;FS=0;InbreedingCoeff=0.272;MLEAC=7;MLEAF=0.184;MQ=55.73;MQRankSum=-6.257;QD=2.61;ReadPosRankSum=1.98;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:281,144:425:99:.:.:3314,0,11117:.	14	2	3	0
chr3	195782558	195782558	A	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2308	41102.2	908	chr3	195782558	.	A	*	41102.2	.	AC=6;AF=0.231;AN=26;BaseQRankSum=1.27;DP=8955;ExcessHet=0;FS=0;InbreedingCoeff=0.7718;MLEAC=8;MLEAF=0.308;MQ=54.8;MQRankSum=-4.934;QD=12.17;ReadPosRankSum=1.41;SOR=0.717	GT:AD:DP:GQ:PGT:PID:PL:PS	1/0:0,302:493:99:.:.:19612,5654,6649:.	7	0	6	6
chr3	195782572	195782572	A	0	exonic	MUC4	.	.	.	.	613	867	19	6	17	48	0.0175637	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	2111.23	845	chr3	195782572	.	A	*	2111.23	.	AC=5;AF=0.25;AN=20;BaseQRankSum=3.65;DP=9235;ExcessHet=2.2993;FS=0;InbreedingCoeff=-0.2677;MLEAC=7;MLEAF=0.35;MQ=54.73;MQRankSum=-9.794;QD=0.84;ReadPosRankSum=-2.64;SOR=0.666	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:342,197:540:99:.:.:10762,0,11706:.	5	0	5	9
chr3	195782605	195782605	A	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	15317.1	821	chr3	195782605	.	A	*	15317.1	.	AC=6;AF=0.25;AN=24;BaseQRankSum=-1.5;DP=9299;ExcessHet=0.0001;FS=0.605;InbreedingCoeff=0.4242;MLEAC=8;MLEAF=0.333;MQ=53.4;MQRankSum=-2.794;QD=6.19;ReadPosRankSum=-1.596;SOR=0.643	GT:AD:DP:GQ:PL	0/1:41,302:463:99:13210,1737,9336	6	0	6	7
chr3	195782644	195782644	T	0	exonic;splicing	MUC4;MUC4	NM_001322468:exon8:c.8263+1A>0	.	.	.	776	656	77	2	11	92	0.0581479	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2273	1898.99	763	chr3	195782644	.	T	*	1898.99	.	AC=5;AF=0.227;AN=22;BaseQRankSum=3.18;DP=9257;ExcessHet=0.4971;FS=1.803;InbreedingCoeff=-0.0134;MLEAC=7;MLEAF=0.318;MQ=52.55;MQRankSum=-3.227;QD=0.69;ReadPosRankSum=1.25;SOR=0.873	GT:AD:DP:GQ:PL	0/1:220,194:455:99:10443,0,7407	6	0	5	8
chr3	195784924	195784924	G	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C6656G:p.T2219R,MUC4:NM_001322468:exon7:c.C6608G:p.T2203R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	.	.	.	0.0015	0	0	0.0032	0.0102	0.0008	0.0034	0.0009	0.0003105	48	154602	rs760474331	9.823e-05	0.0004	0.0001	7.892e-05	0.0008	8.38e-05	7.866e-05	0.0006	0.0005	0	0	0	0.0008	0.0011	0	3.45e-05	0.0002	6.796e-05	0.0004	0.0007	0.0002	0.0005	0.0014	0.0003	0.0003	0.0007	0.0005	4.914e-05	0.0022	0	0	0.0014	0.0029	0	0.0001	0	0.0006	0.006	0.68238	D	0.011	0.64786	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.28	0.36330	T	-0.5	0.19933	N	0.093	0.14338	-1.0520	0.13845	T	0.081	0.32090	T	6	0.0067575574	0.00153	T	.	.	.	0.112	0.31546	.	.	0.0297737177859	0.01360	0.0047360653174486475	0.00446	.	.	0.517487943172	0.41272	T	.	.	.	-0.260971	0.12786	T	-0.612643	0.11770	T	0.021819335402207	0.00889	T	0.812919	0.46506	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.229	0.46109	B	.;.	.;.	2.106551	0.26808	17.25	0.81657109447468745	0.13794	0.01045	0.03900	N	AEFBI	0.064849	0.12615	N	-1.28725235816055	0.03828	0.1717064	-1.5596710357527	0.01910	0.08712463	1.29955529593604E-5	0.02871	0.615465	0.37627	0	0.601575	0.49859	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	.	.	.	1.063000	0.30177	-1.222000	0.05984	0.177000	0.17786	0.032000	0.20554	0.000000	0.08366	0.006000	0.07323	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	2431.33	2214	chr3	195784924	.	G	C	2431.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.608;DP=23510;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.23;MQRankSum=1.17;QD=1.64;ReadPosRankSum=1.68;SOR=0.71	GT:AD:DP:GQ:PL	0/1:1251,232:1483:99:2445,0,47826	18	0	1	0
chr3	195785800	195785800	G	T	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C5780A:p.S1927Y,MUC4:NM_001322468:exon6:c.C5780A:p.S1927Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.00367358691015	.	.	0.0015	0	0	0.0037	0.0092	0.0008	0.0038	0.0010	0.0002717	42	154602	rs200815654	0.0003	0.0006	0.0003	0.0003	0.0016	0.0002	0.0002	0.0013	0.0011	0	2.946e-05	0	0.0016	0.0035	0	8.285e-05	0.0004	0.0002	0.0004	0.0007	0.0002	0.0006	0.0016	0.0003	0.0003	0.0008	0.0006	0	0	0	0	0.0016	0.0031	0	0.0002	0.0005	0.0006	0.004	0.65419	D	0.021	0.58089	D	.	.	.	.	.	.	.	.	.	.	1	0.18612	N	.	.	.	1.42	0.33189	T	-0.4	0.13805	N	0.087	0.06454	-1.0406	0.17132	T	0.036	0.15378	T	6	0.009141922	0.00207	T	0.003674	0.08464	T	0.012	0.01476	.	.	0.0551355673512	0.04727	4.330026366298004E-4	0.00039	.	.	0.558222472668	0.47016	T	.	.	.	-0.298614	0.08791	T	-0.666715	0.07820	T	0.0181590440089666	0.00537	T	0.880212	0.59782	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.300	0.52969	B	.;.	.;.	1.604372	0.20508	14.78	0.76809164798735852	0.11618	0.05478	0.11361	N	AEFBCI	0.067000	0.13149	N	-1.00805244713655	0.08436	0.3955294	-1.16317791159856	0.06534	0.3148439	3.47764912971636E-5	0.03775	0.554377	0.28877	0	0.446627	0.06534	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	.	.	.	-0.026000	0.12340	0.438000	0.18395	-1.497000	0.01035	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	.	.	.	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	.	.	.	.	.	.	.	.	0.02941	2454.11	877	chr3	195785800	.	G	T	2454.11	.	AC=1;AF=0.029;AN=34;BaseQRankSum=-4.57;DP=12775;ExcessHet=0;FS=0;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.029;MQ=59.27;MQRankSum=3.46;QD=1.82;ReadPosRankSum=0.106;SOR=0.69	GT:AD:DP:GQ:PL	0/1:1130,222:1354:99:2467,0,31100	16	0	1	2
chr3	195787234	195787234	G	0	exonic	MUC4	.	.	.	.	800	531	39	11	141	202	0.0543188	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2105	128.37	13	chr3	195787234	.	G	*	128.37	.	AC=8;AF=0.211;AN=38;BaseQRankSum=-1.628;DP=361;ExcessHet=5.3738;FS=7.172;InbreedingCoeff=-0.2264;MLEAC=8;MLEAF=0.211;MQ=38.2;MQRankSum=-1.235;QD=1.18;ReadPosRankSum=-1.531;SOR=1.222	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:0,6:22:72:.:.:219,0,72:.	11	0	8	0
chr3	195787238	195787238	C	0	exonic	MUC4	.	.	.	.	932	298	197	67	28	359	0.357066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1875	4036.31	14	chr3	195787238	.	C	*	4036.31	.	AC=6;AF=0.188;AN=32;BaseQRankSum=2.39;DP=325;ExcessHet=0.0134;FS=2.32;InbreedingCoeff=0.4331;MLEAC=7;MLEAF=0.219;MQ=38.26;MQRankSum=0;QD=19.22;ReadPosRankSum=-0.449;SOR=0.934	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,6:20:99:0|1:195787238_C_*:815,588,570:195787238	10	0	6	3
chr3	195787273	195787273	T	0	exonic	MUC4	.	.	.	.	903	371	151	74	23	322	0.287224	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	3290.32	7	chr3	195787273	.	T	*	3290.32	.	AC=7;AF=0.25;AN=28;BaseQRankSum=0.089;DP=300;ExcessHet=0.0073;FS=10.133;InbreedingCoeff=0.4493;MLEAC=9;MLEAF=0.321;MQ=37.73;MQRankSum=-0.235;QD=18.7;ReadPosRankSum=-0.328;SOR=0.564	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,6:20:99:0|1:195787238_C_*:805,581,570:195787238	7	0	7	5
chr3	195787579	195787579	G	0	exonic	MUC4	.	.	.	.	46	100	18	19	43	99	0.21875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3438	4502.91	22	chr3	195787579	.	G	*	4502.91	.	AC=11;AF=0.344;AN=32;DP=817;ExcessHet=0;FS=4.104;InbreedingCoeff=0.7912;MLEAC=13;MLEAF=0.406;MQ=51.17;QD=6.84;SOR=1.088	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,98:98:99:1|1:195787508_T_C:4410,295,0:195787508	10	5	1	3
chr3	195787584	195787584	A	0	exonic	MUC4	.	.	.	.	854	418	49	62	139	312	0.171457	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4231	3569.69	15	chr3	195787584	.	A	*	3569.69	.	AC=11;AF=0.423;AN=26;DP=792;ExcessHet=0;FS=5.111;InbreedingCoeff=0.6864;MLEAC=15;MLEAF=0.577;MQ=50.02;QD=5.6;SOR=1.104	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,98:98:99:1|1:195787508_T_C:4410,295,0:195787508	7	5	1	6
chr3	195787598	195787601	GCAT	0	exonic	MUC4	.	.	.	.	748	628	1	6	139	152	0.0102443	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3438	725.76	4	chr3	195787598	.	GCAT	*	725.76	.	AC=11;AF=0.344;AN=32;DP=718;ExcessHet=0;FS=3.908;InbreedingCoeff=0.7404;MLEAC=14;MLEAF=0.438;MQ=42.8;QD=1.26;SOR=1.062	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,98:98:99:1|1:195787508_T_C:4410,295,0:195787508	10	5	1	3
chr3	195787599	195787599	C	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6538	31.65	4	chr3	195787599	.	C	*	31.65	.	AC=17;AF=0.654;AN=26;DP=716;ExcessHet=0;FS=3.908;InbreedingCoeff=0.6864;MLEAC=23;MLEAF=0.885;MQ=39;QD=0.06;SOR=1.067	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,98:98:99:1|1:195787508_T_C:4410,295,0:195787508	4	8	1	6
chr3	195787600	195787600	A	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6538	31.65	4	chr3	195787600	.	A	*	31.65	.	AC=17;AF=0.654;AN=26;DP=716;ExcessHet=0;FS=3.908;InbreedingCoeff=0.6864;MLEAC=23;MLEAF=0.885;MQ=39;QD=0.06;SOR=1.067	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,98:98:99:1|1:195787508_T_C:4410,295,0:195787508	4	8	1	6
chr3	195882073	195882073	G	A	exonic	TNK2	.	nonsynonymous SNV	TNK2:NM_001010938:exon6:c.C937T:p.H313Y,TNK2:NM_001308046:exon6:c.C961T:p.H321Y,TNK2:NM_001382271:exon6:c.C961T:p.H321Y,TNK2:NM_001382272:exon6:c.C937T:p.H313Y,TNK2:NM_001382273:exon6:c.C865T:p.H289Y,TNK2:NM_001382274:exon6:c.C865T:p.H289Y,TNK2:NM_001382275:exon6:c.C961T:p.H321Y,TNK2:NM_005781:exon6:c.C865T:p.H289Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.702	0.0415073987513	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1383078167	2.741e-06	2.736e-06	4.089e-06	1.379e-06	1.16e-05	6.4e-07	4.3e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.702e-06	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.032	0.58089	D	0.997	0.70673	D	0.748	0.59984	P	0.000000	0.84330	D	0.000000	0.999957	0.58761	D	0.66	0.16226	N	-1.63	0.82440	D	-4.57	0.78721	D	0.741	0.75283	0.090	0.83996	D	0.511	0.81632	D	10	0.870664	0.86330	D	0.041507	0.59964	D	0.702	0.89284	0.78	0.90465	0.938431286101	0.93779	0.6908966824558921	0.69029	1.15268127864	0.79260	0.923464417458	0.98575	D	0.507785	0.82961	D	0.128036	0.67169	D	0.0429932	0.73124	D	0.838782012462616	0.49228	D	0.986201	0.95317	D	0.71261454	0.78751	0.55195427	0.74091	0.71261454	0.78752	0.55195427	0.74092	-13.617	0.91745	D	.	.	0.651	0.70958	P	.;.;.	.;.;.	5.063787	0.84412	28.3	0.99786944649170872	0.87308	0.99253	0.93488	D	AEFGBI	0.923046	0.89894	D	0.506360186177902	0.67463	5.085279	0.590579541093431	0.74260	6.107363	0.999977244616244	0.50053	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.88	4.88	0.63131	6.329000	0.72876	11.760000	0.95608	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	17.125	0.86589	884	0.28482	.;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;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	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1700.33	36	chr3	195882073	.	G	A	1700.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.123;DP=759;ExcessHet=0;FS=0.702;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.6;ReadPosRankSum=-0.482;SOR=0.836	GT:AD:DP:GQ:PL	0/1:64,61:125:99:1714,0,1674	18	0	1	0
chr3	196233080	196233080	C	T	exonic	SLC51A	.	nonsynonymous SNV	SLC51A:NM_152672:exon9:c.C904T:p.L302F	.	428	1087	7	0	0	7	0.00320954	.	.	.	3213728	SLC51A-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.287	0.0338992608071	.	0.000599042	0.0009	9.61e-05	0.0002	0	0	4.497e-05	0.0011	0.0061	0.0007374	114	154602	rs530565206	0.0004	0.0004	0.0003	0.0006	0.0066	0.0004	0.0004	0.0061	0.0060	0	6.708e-05	0	0	1.872e-05	0.0016	3.777e-05	0.0004	0.0066	0.0002	0.0002	6.423e-05	0.0003	0.0054	0.0001	0.0001	0.0038	0.0032	0	0	0	0	0	0	0	1.47e-05	0	0.0054	0.006	0.61437	D	0.011	0.64786	D	1.0	0.90584	D	0.999	0.92359	D	0.000506	0.43753	D	0.000000	1	0.81001	D	3.12	0.87914	M	0.67	0.52187	T	-2.93	0.61284	D	0.662	0.67132	-0.4245	0.71245	T	0.314	0.68389	T	10	0.029058963	0.01034	T	0.033899	0.55304	D	0.287	0.60574	0.673	0.81101	0.750896097382	0.74864	0.6149989480306773	0.61431	0.630607113728	0.57042	0.544940471649	0.45143	T	0.285911	0.65870	T	-0.117281	0.33568	T	0.0612304	0.74327	D	0.249617232013531	0.22856	T	0.821218	0.48050	T	0.20066597	0.42050	0.23545495	0.48790	0.20066597	0.42050	0.23545495	0.48789	-7.276	0.56024	T	.	.	0.442	0.61811	A	.	.	4.156843	0.62392	24.5	0.99893476299758754	0.96666	0.78575	0.38787	D	AEFGBHCI	0.718683	0.66980	D	0.71552006399303	0.80648	7.341501	0.684006168425629	0.81166	7.463277	0.999999977612648	0.74766	0.706298	0.61202	0	0.518115	0.08659	0	0.709663	0.75317	0	0.664235	0.64389	0	.	.	6.03	6.03	0.97798	1.292000	0.32948	4.911000	0.45953	0.599000	0.40250	0.972000	0.34453	1.000000	0.68203	0.979000	0.57723	0.0:0.9246:0.0:0.0754	13.371	0.60159	774	0.48577	.	.	.	.	.	.	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	0.000000	0.000000	0.000000	0.000000	0.003049	0.007576	0.02632	2162.33	40	chr3	196233080	.	C	T	2162.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.236;DP=866;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.03;ReadPosRankSum=0.299;SOR=0.648	GT:AD:DP:GQ:PL	0/1:78,88:166:99:2176,0,1875	18	0	1	0
chr3	197839362	197839362	A	C	exonic	LRCH3	.	nonsynonymous SNV	LRCH3:NM_001363887:exon10:c.A1293C:p.K431N,LRCH3:NM_001365715:exon10:c.A1293C:p.K431N,LRCH3:NM_001365716:exon10:c.A1293C:p.K431N,LRCH3:NM_001365717:exon10:c.A1293C:p.K431N,LRCH3:NM_001365718:exon10:c.A1293C:p.K431N,LRCH3:NM_001365719:exon10:c.A1293C:p.K431N,LRCH3:NM_032773:exon10:c.A1293C:p.K431N	.	434	1076	11	1	0	13	0.00600462	.	.	.	3190643	LRCH3-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.059	0.0153412023487	0.0020	0.000798722	0.0015	0.0005	0.0013	0	0.0006	0.0023	0.0044	0.0001	0.0015071	233	154602	rs148665137	0.0015	0.0015	0.0014	0.0015	0.0119	0.0014	0.0014	0.0096	0.0088	0.0005	0.0018	0.0003	0	0.0004	0.0119	0.0016	0.0018	0.0002	0.0016	0.0016	0.0015	0.0016	0.0029	0.0014	0.0013	0.0023	0.0020	0.0005	0	0.0029	0	0	0.0003	0.0204	0.0023	0.0043	0.0004	0.018	0.52492	D	0.118	0.47581	T	0.835	0.49920	P	0.466	0.53279	P	0.000015	0.62929	D	0.138084	0.965625	0.26534	N	1.15	0.29295	L	2.06	0.31987	T	-1.72	0.41428	N	0.241	0.31478	-0.9672	0.37774	T	0.132	0.44307	T	10	0.0074974895	0.00170	T	0.015341	0.36015	T	0.059	0.16972	0.324	0.30549	0.381409048467	0.37754	0.2559485291612534	0.25508	0.291397255534	0.31546	0.526741325855	0.42575	T	0.026482	0.19590	T	-0.458273	0.01008	T	-0.436602	0.29188	T	0.0257361292577392	0.01370	T	0.957604	0.84033	D	0.21015398	0.43303	0.19592808	0.43296	0.21015398	0.43303	0.19592808	0.43295	-3.433	0.16445	T	.	.	0.395	0.63267	A	.;.;.;.;.;.	.;.;.;.;.;.	3.406218	0.47225	22.4	0.99806354933162489	0.89085	0.95075	0.63346	D	AEFBI	0.339824	0.43684	N	0.237764321041102	0.53037	3.474513	0.358728232761598	0.59036	4.078101	0.994467855849204	0.33649	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.74	5.74	0.90070	3.654000	0.54193	7.872000	0.72015	0.754000	0.88378	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.8866:0.0:0.1134:0.0	10.523	0.44117	856	0.34373	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.012097	0.005102	0.020380	0.026316	0.000000	0.008621	0.003049	0.000000	0.07895	3008.79	34	chr3	197839362	.	A	C	3008.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.014;DP=817;ExcessHet=0.3672;FS=2.656;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=11.19;ReadPosRankSum=0.2;SOR=0.551	GT:AD:DP:GQ:PL	0/1:55,35:90:99:799,0,1277	16	0	3	0
chr4	990014	990014	C	T	exonic	SLC26A1	.	nonsynonymous SNV	SLC26A1:NM_022042:exon3:c.G925A:p.G309R,SLC26A1:NM_213613:exon4:c.G925A:p.G309R	.	.	.	.	.	.	.	.	.	.	.	3728119	Hypersulfaturia|Nephrolithiasis_susceptibility_caused_by_SLC26A1	MONDO:MONDO:0957268,MedGen:C5830511,OMIM:620372|MONDO:MONDO:0020722,MedGen:C5779632,OMIM:167030	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.721	0.502556626089	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs754987516	8.403e-06	1.3e-05	8.329e-06	8.478e-06	4.886e-05	4.48e-06	3.54e-06	1.64e-05	9.69e-06	3.043e-05	0	0	0	0	0	5.469e-06	1.69e-05	4.886e-05	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	0.049	0.39820	D	0.007	0.69154	D	1.0	0.90584	D	0.997	0.86255	D	0.000014	0.62929	D	0.150552	1	0.81001	D	2.765	0.80766	M	-3.14	0.92884	D	-3.78	0.71519	D	0.824	0.81957	0.858	0.95125	D	0.860	0.95329	D	10	0.9628824	0.95721	D	0.502557	0.95175	D	0.721	0.90146	0.509	0.60540	0.97683647753	0.97658	0.9411011065769828	0.94091	0.596916655159	0.54907	0.556384980679	0.46757	T	0.634916	0.88732	D	0.286568	0.81871	D	0.173859	0.81637	D	0.9553582072258	0.64487	D	0.854615	0.54143	D	0.21256314	0.43612	0.24696177	0.50217	0.21256314	0.43612	0.24696177	0.50216	-12.133	0.85493	D	0.7122774498699256	0.79266	0.472	0.63277	A	.;.	.;.	4.558076	0.71801	25.7	0.99874599304776612	0.95160	0.93348	0.57977	D	AEFBCI	.	.	.	0.525694475951736	0.68613	5.241527	0.396334188138654	0.61339	4.332551	0.999999722255083	0.74766	0.646311	0.45356	0	0.633656	0.55848	0	0.645312	0.48771	0	0.491896	0.07777	0	.	.	5.24	5.24	0.72863	3.873000	0.55806	.	.	0.599000	0.40250	0.954000	0.33273	0.994000	0.32194	0.299000	0.24476	0.1804:0.8195:0.0:0.0	11.424	0.49241	799	0.44747	SLC26A/SulP transporter domain;SLC26A/SulP transporter 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	.	.	.	.	.	.	.	.	0.02632	1134.33	42	chr4	990014	.	C	T	1134.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.079;DP=924;ExcessHet=0;FS=0.722;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.5;ReadPosRankSum=0.322;SOR=0.598	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:59,49:108:99:0|1:990014_C_T:1148,0,2238:990014	18	0	1	0
chr4	1000623	1000623	G	A	exonic	IDUA	.	nonsynonymous SNV	IDUA:NM_000203:exon3:c.G311A:p.G104E	Mucopolysaccharidosis Ih, Autosomal recessive;Mucopolysaccharidosis Ih/s, Autosomal recessive;Mucopolysaccharidosis Is, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.142294619002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.224	0.72154	T	0.04	0.64786	D	0.581	0.38837	P	0.295	0.40843	B	0.000268	0.46590	N	0.187058	1	0.29663	N	2.225	0.63025	M	-3.58	0.94940	D	-3.47	0.67824	D	0.232	0.26111	-0.1465	0.79002	T	0.663	0.88295	D	10	0.74538666	0.75251	D	0.142295	0.82467	D	0.322	0.64420	0.739	0.87147	0.877299523983	0.87610	0.5513036997013311	0.55056	0.259643023366	0.28522	0.347984731197	0.17625	T	0.681935	0.90669	D	0.108098	0.65154	D	-0.082501	0.64720	T	0.837755143642426	0.49145	D	0.59824	0.22282	T	0.47437567	0.65558	0.22811449	0.47843	0.47437567	0.65559	0.22811449	0.47842	-6.723	0.51984	T	0.15666730776908105	0.18865	0.091	0.22717	B	.;.;.;.	.;.;.;.	1.200164	0.15924	12.20	0.92471380694235716	0.21900	0.19733	0.20775	N	AEFBCI	0.102644	0.20585	N	-0.8104110428469	0.13044	0.6398679	-0.892757631695758	0.12265	0.6298985	0.0148143491039389	0.12642	0.676563	0.55306	0	0.694456	0.67091	0	0.61531	0.40942	0	0.600526	0.37237	0	.	.	4.97	0.42	0.15663	2.350000	0.43718	.	.	-0.106000	0.15538	0.990000	0.36992	0.000000	0.08366	0.002000	0.04165	0.3428:0.1635:0.4937:0.0	4.803	0.12674	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	.	.	.	.	.	.	.	.	0.02632	2061.33	37	chr4	1000623	.	G	A	2061.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.897;DP=715;ExcessHet=0;FS=0.814;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=23.42;ReadPosRankSum=0.059;SOR=0.565	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:36,52:88:99:0|1:1000623_G_A:2075,0,1355:1000623	18	0	1	0
chr4	1022236	1022236	G	A	exonic	FGFRL1	.	nonsynonymous SNV	FGFRL1:NM_021923:exon2:c.G113A:p.R38Q,FGFRL1:NM_001004356:exon3:c.G113A:p.R38Q,FGFRL1:NM_001004358:exon3:c.G113A:p.R38Q,FGFRL1:NM_001370296:exon3:c.G113A:p.R38Q	.	420	1101	1	0	0	1	0.000453926	.	.	.	1949144	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.061	.	.	0.00159744	0.0016	0	0.0002	0	0	0	0	0.0146	0.0006145	95	154602	rs557619683	0.0003	0.0003	0.0002	0.0005	0.0056	0.0003	0.0003	0.0051	0.0050	3.159e-05	5.167e-05	0	0	0	0.0002	5.56e-06	0.0004	0.0056	0.0002	0.0002	8.999e-05	0.0002	0.0052	0.0001	9.7e-05	0.0036	0.0031	0	0	0	0	0	0	0	0	0	0.0052	0.298	0.42199	T	0.242	0.57587	T	0.218	0.30213	B	0.085	0.29395	B	0.000000	0.84330	D	0.000000	0.999874	0.50225	D	0.42	0.12520	N	1.58	0.66652	T	-1.12	0.33197	N	0.422	0.49146	-1.0370	0.18233	T	0.129	0.43767	T	10	0.009086192	0.00205	T	.	.	.	0.061	0.17616	0.426	0.47185	0.447589709634	0.44379	0.6461726590818195	0.64552	0.267667145957	0.29308	0.825996637344	0.85948	D	0.084233	0.37232	T	-0.390027	0.02689	T	-0.331518	0.41299	T	0.05757604730524	0.06781	T	0.846215	0.54490	T	0.07340355	0.16401	0.06913558	0.14528	0.07340355	0.16400	0.06913558	0.14527	-7.538	0.57877	D	.	.	0.208	0.51900	B	.;.;.;.;.;.	.;.;.;.;.;.	3.659671	0.51986	23.2	0.99153455195100981	0.53875	0.93844	0.59355	D	AEFBI	0.505427	0.53658	D	-0.626743846686541	0.18144	0.9396412	-0.516178421489664	0.21714	1.175956	0.974821929300308	0.29578	0.646311	0.45356	0	0.624146	0.53433	0	0.645312	0.48771	0	0.699875	0.68795	0	.	.	4.62	2.76	0.31527	6.017000	0.70457	7.006000	0.57214	-0.134000	0.12905	1.000000	0.71638	1.000000	0.68203	0.537000	0.29868	0.0889:0.1547:0.7564:0.0	8.455	0.32052	878	0.29785	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin I-set|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	.	.	.	.	.	.	.	.	0.02632	1401.33	35	chr4	1022236	.	G	A	1401.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.44;DP=731;ExcessHet=0;FS=4.069;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.75;ReadPosRankSum=-0.021;SOR=0.459	GT:AD:DP:GQ:PL	0/1:34,55:89:99:1415,0,683	18	0	1	0
chr4	2445301	2445301	C	G	exonic	CFAP99	.	nonsynonymous SNV	CFAP99:NM_001193282:exon6:c.C635G:p.P212R	.	420	1097	5	0	0	5	0.00227376	.	.	.	2347269	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	0.000199681	0.0006	0	0	0	0	0.0011	0	0	4.53e-05	7	154602	rs576917731	0.0003	0.0003	0.0003	0.0003	0.0018	0.0003	0.0003	0.0010	0.0007	4.051e-05	0.0005	0	0	0	0.0018	0.0003	0.0003	0.0001	0.0002	0.0002	0.0002	0.0002	0.0004	0.0002	0.0001	0.0003	0.0003	7.216e-05	0	0	0	0	0	0	0.0004	0.0005	0.0004	.	.	.	0.063	0.45110	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	0.08227	.	.	.	.	.	.	.	0.023274839	0.00604	T	.	.	.	.	.	.	.	0.393471546983	0.38961	0.2127385484002148	0.21189	.	.	.	.	.	.	.	.	-0.321183	0.06801	T	-0.32687	0.41818	T	.	.	.	0.59824	0.22282	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.136	0.29642	B	.;.	.;.	1.218566	0.16123	12.33	0.66083365332383248	0.07956	0.28584	0.23594	N	AEFBI	.	.	.	.	.	.	.	.	.	0.936409246805415	0.27253	0.056701	0.00814	0	0.060609	0.00678	0	0.074216	0.02223	0	0.062806	0.01542	0	0.514609	0.39603	4.52	3.63	0.40741	1.056000	0.30089	3.172000	0.36616	0.589000	0.31548	0.001000	0.13787	0.327000	0.24354	0.048000	0.15020	0.0:0.8844:0.0:0.1156	9.358	0.37342	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	.	.	.	.	.	.	.	.	0.02632	1249.33	33	chr4	2445301	.	C	G	1249.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.38;DP=708;ExcessHet=0;FS=1.989;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.87;ReadPosRankSum=-0.458;SOR=0.986	GT:AD:DP:GQ:PL	0/1:38,46:84:99:1263,0,807	18	0	1	0
chr4	2941692	2941692	G	A	exonic	NOP14	.	nonsynonymous SNV	NOP14:NM_001291978:exon15:c.C2089T:p.R697C,NOP14:NM_001291979:exon15:c.C2089T:p.R697C,NOP14:NM_003703:exon15:c.C2089T:p.R697C	.	404	1092	26	0	0	26	0.0117647	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.213	.	0.0032	0.00878594	0.0088	0.0005	0.0044	0.0019	0.0106	0.0077	0.0092	0.0248	0.007736	1196	154602	rs61740573	0.0062	0.0062	0.0057	0.0067	0.0298	0.0061	0.0060	0.0261	0.0247	0.0018	0.0044	0.0296	0.0008	0.0102	0.0298	0.0045	0.0080	0.0204	0.0055	0.0055	0.0048	0.0061	0.0236	0.0052	0.0050	0.0201	0.0188	0.0010	0	0.0046	0.0328	0.0015	0.0100	0.0170	0.0051	0.0118	0.0236	0.015	0.58626	D	0.003	0.79402	D	1.0	0.90584	D	0.91	0.66185	D	0.000073	0.52346	D	0.124363	0.52763	0.31517	N	3.055	0.86842	M	1.46	0.32238	T	-4.09	0.75375	D	0.475	0.51315	-0.5549	0.66599	T	0.138	0.45526	T	10	0.0066779554	0.00151	T	.	.	.	0.213	0.50496	.	.	0.527809512145	0.52428	0.4969263051077896	0.49613	0.4632225215	0.45833	0.259536594152	0.04836	T	0.070444	0.33961	T	-0.400888	0.02284	T	-0.331705	0.41280	T	0.0351601588212269	0.02836	T	0.926207	0.72857	D	0.25870398	0.48920	0.1932095	0.42877	0.25870398	0.48920	0.1932095	0.42876	-7.67	0.58799	D	.	.	0.087	0.23148	B	.;.;.;.	.;.;.;.	4.515894	0.70766	25.6	0.99881421728566111	0.95733	0.70493	0.34613	D	AEFDBHCI	0.141967	0.26429	N	0.29330149020774	0.55808	3.744946	0.141584442563453	0.46698	2.911595	0.999999848330045	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	5.67	3.81	0.43020	1.589000	0.36253	6.314000	0.55434	0.676000	0.76740	0.982000	0.35529	0.998000	0.33993	0.016000	0.10718	0.0:0.0:0.6387:0.3613	13.313	0.59830	624	0.65661	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.027273	0.025773	0.033967	0.035088	0.100000	0.051724	0.018405	0.003788	0.05263	1710.83	40	chr4	2941692	.	G	A	1710.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.03;DP=801;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.96;ReadPosRankSum=0.486;SOR=0.699	GT:AD:DP:GQ:PL	0/1:39,41:80:99:1023,0,933	17	0	2	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	.	.	.	.	.	.	.	.	0.4737	6195.3	135	chr4	6862306	.	T	C	6195.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-3.635;DP=2656;ExcessHet=38.2876;FS=246.725;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=60;MQRankSum=0;QD=2.43;ReadPosRankSum=1.38;SOR=13.192	GT:AD:DP:GQ:PL	0/1:79,31:110:99:275,0,1948	1	0	18	0
chr4	8228123	8228123	C	T	exonic	SH3TC1	.	nonsynonymous SNV	SH3TC1:NM_001318480:exon12:c.C2201T:p.T734M,SH3TC1:NM_018986:exon12:c.C2429T:p.T810M	.	418	1065	38	1	0	40	0.0184332	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	.	0.0042	0.00239617	0.0041	0.0005	0.0042	0.0002	0.0002	0.0058	0.0130	0.0024	0.0039844	616	154602	rs141246804	0.0041	0.0041	0.0039	0.0043	0.0248	0.0040	0.0040	0.0215	0.0202	0.0014	0.0048	0.0127	7.562e-05	0.0006	0.0248	0.0042	0.0052	0.0028	0.0036	0.0036	0.0036	0.0035	0.0069	0.0033	0.0032	0.0058	0.0054	0.0008	0	0.0069	0.0118	0	0.0002	0.0170	0.0048	0.0099	0.0021	0.264	0.16358	T	0.252	0.23570	T	0.227	0.30477	B	0.024	0.20255	B	0.608865	0.05689	N	1.216660	1	0.08975	N	-0.205	0.04094	N	2.23	0.18083	T	-0.44	0.14588	N	0.12	0.11054	-0.9892	0.32803	T	0.144	0.46678	T	10	0.0043804646	0.00089	T	.	.	.	0.011	0.01250	.	.	0.159798565429	0.15598	0.13209991502445473	0.13134	0.028334657764	0.02908	0.393992006779	0.24230	T	0.001092	0.00611	T	-0.667018	0.00057	T	-0.72829	0.04405	T	0.00313622059938561	0.00033	T	0.565243	0.19970	T	0.036259346	0.04424	0.039471384	0.04046	0.036259346	0.04424	0.039471384	0.04046	-6.435	0.49782	T	.	.	0.066	0.02285	B	.	.	-0.201072	0.03086	0.484	0.60909728043607425	0.06578	0.03672	0.08936	N	AEFDBCI	0.056672	0.10495	N	-1.55978173974142	0.01478	0.06452043	-1.68219132308546	0.01218	0.05486252	0.999999899908379	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.578056	0.29568	0	0.735409	0.98432	0	.	.	4.14	-5.71	0.02218	-0.320000	0.08070	-11.442000	0.00605	-0.281000	0.06419	0.000000	0.06391	0.000000	0.08366	0.027000	0.12703	0.0895:0.2316:0.0967:0.5821	5.574	0.16498	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	0.028701	0.025253	0.042120	0.032164	0.000000	0.043103	0.006098	0.015152	0.02632	997.33	89	chr4	8228123	.	C	T	997.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.7;DP=1270;ExcessHet=0;FS=0.851;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.47;ReadPosRankSum=0.434;SOR=0.546	GT:AD:DP:GQ:PL	0/1:43,37:80:99:1011,0,957	18	0	1	0
chr4	8414862	8414862	T	C	exonic	ACOX3	.	nonsynonymous SNV	ACOX3:NM_001375789:exon3:c.A160G:p.R54G,ACOX3:NM_001101667:exon4:c.A445G:p.R149G,ACOX3:NM_001375783:exon4:c.A445G:p.R149G,ACOX3:NM_001375784:exon4:c.A373G:p.R125G,ACOX3:NM_001375785:exon4:c.A445G:p.R149G,ACOX3:NM_001375786:exon4:c.A445G:p.R149G,ACOX3:NM_001375787:exon4:c.A445G:p.R149G,ACOX3:NM_001375788:exon4:c.A445G:p.R149G,ACOX3:NM_001375790:exon4:c.A445G:p.R149G,ACOX3:NM_003501:exon4:c.A445G:p.R149G	.	429	1085	8	0	0	8	0.00367309	.	.	.	3185281	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.482	0.122622679502	0.0014	0.000798722	0.0012	0.0002	0.0009	0	0	0.0014	0.0022	0.0024	0.0011449	177	154602	rs114127771	0.0008	0.0008	0.0007	0.0010	0.0090	0.0008	0.0008	0.0071	0.0064	0.0004	0.0009	0.0142	0	3.744e-05	0.0090	0.0004	0.0019	0.0022	0.0008	0.0008	0.0008	0.0008	0.0007	0.0007	0.0006	0.0005	0.0005	2.405e-05	0	0.0007	0.0141	0	0	0.0034	0.0007	0.0019	0.0006	0.286	0.27904	T	0.184	0.29056	T	0.036	0.26116	B	0.028	0.26930	B	0.410311	0.04587	N	1.355360	1	0.08975	N	0.695	0.17993	N	-0.06	0.98917	T	-1.94	0.45042	N	0.085	0.06322	0.516	0.90774	D	0.876	0.95868	D	10	0.007192403	0.00164	T	0.122623	0.80364	D	0.482	0.77206	.	.	0.936951009075	0.93630	0.4627677085656908	0.46195	0.123022825766	0.13861	0.305418729782	0.11214	T	0.352145	0.71962	T	-0.149393	0.28405	T	0.0058467	0.70714	D	0.00862911314134936	0.00106	T	0.614539	0.23960	T	0.07020346	0.15445	0.04672292	0.06573	0.07020346	0.15444	0.04672292	0.06573	-5.88	0.47002	T	.	.	0.066	0.07602	B	.;.;.;.	.;.;.;.	1.156321	0.15446	11.86	0.92983454943213228	0.22566	0.11408	0.16614	N	AEFGBI	0.054442	0.09900	N	-0.878841326331892	0.11347	0.547103	-0.91047357832535	0.11846	0.6060203	0.972851730516041	0.29406	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	3.9	2.68	0.30839	0.788000	0.26533	2.058000	0.30379	0.661000	0.55757	0.001000	0.13787	0.046000	0.21717	0.003000	0.05239	0.0:0.0:0.1969:0.803	8.486	0.32234	946	0.12043	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.009567	0.010101	0.014946	0.000000	0.000000	0.017241	0.006098	0.003788	0.02632	2864.33	34	chr4	8414862	.	T	C	2864.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.814;DP=868;ExcessHet=0;FS=0.477;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.29;ReadPosRankSum=0.979;SOR=0.733	GT:AD:DP:GQ:PL	0/1:107,126:233:99:2878,0,2643	18	0	1	0
chr4	15004125	15004125	-	GGGGGGGGGGG	exonic	CPEB2	.	frameshift insertion	CPEB2:NM_001177381:exon1:c.1452_1453insGGGGGGGGGGG:p.F488Gfs*22,CPEB2:NM_001177382:exon1:c.1452_1453insGGGGGGGGGGG:p.F488Gfs*22,CPEB2:NM_001177383:exon1:c.1452_1453insGGGGGGGGGGG:p.F488Gfs*22,CPEB2:NM_001177384:exon1:c.1452_1453insGGGGGGGGGGG:p.F488Gfs*22,CPEB2:NM_182485:exon1:c.1452_1453insGGGGGGGGGGG:p.F488Gfs*22,CPEB2:NM_182646:exon1:c.1452_1453insGGGGGGGGGGG:p.F488Gfs*22	.	373	1134	5	0	10	15	0.00219974	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0031	0.0002	0.0002	0.0004	0.0001	0.0001	0.0002	0.0002	0.0004	8.738e-05	0.0004	0.0002	0.0001	0.0002	0.0002	0.0001	2.584e-05	6.656e-06	0.0001	1.299e-05	0	2.421e-05	0	0	.	.	2.421e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	70.78	46	chr4	15004125	.	C	CGGGGGGGGGGG	70.78	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.39;DP=907;ExcessHet=0;FS=65.634;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=1.42;ReadPosRankSum=-2.835;SOR=4.97	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:45,5:50:62:0|1:15004125_C_CGGGGGGGGGGG:62,0,1874:15004125	18	0	1	0
chr4	22388349	22388349	T	C	exonic	ADGRA3	.	nonsynonymous SNV	ADGRA3:NM_145290:exon19:c.A3322G:p.N1108D	.	433	1088	1	0	0	1	0.000459348	.	.	.	829037	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.135	0.0311239104786	.	.	4.95e-05	0	0	0	0	8.995e-05	0	0	5.17e-05	8	154602	rs750684538	3.215e-05	3.215e-05	2.995e-05	3.438e-05	0.0005	2.478e-05	2.22e-05	0.0001	7.546e-05	2.987e-05	2.236e-05	3.826e-05	0	0	0.0005	3.327e-05	4.967e-05	1.159e-05	6.575e-06	6.567e-06	0	1.347e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.684	0.04379	T	0.216	0.26226	T	0.988	0.62325	D	0.76	0.56425	P	0.000000	0.84330	D	0.042300	0.999998	0.58761	D	.	.	.	0.51	0.55439	T	-1.52	0.36980	N	0.644	0.65587	-0.7752	0.56570	T	0.229	0.59459	T	10	0.4488006	0.58567	T	0.031124	0.53284	D	0.135	0.36572	0.369	0.37850	0.151262610727	0.14761	0.2734018693848779	0.27253	0.543955468731	0.51462	0.677370548248	0.63892	T	0.218132	0.58077	T	-0.242328	0.15053	T	-0.394182	0.34062	T	0.401351660490036	0.28993	T	0.859214	0.55036	D	0.29010993	0.52003	0.33563578	0.59375	0.29010993	0.52003	0.33563578	0.59374	-3.431	0.15477	T	.	.	0.184	0.39848	B	.	.	4.442011	0.68981	25.3	0.99601053867176093	0.74219	0.98049	0.79168	D	AEBI	0.842193	0.75933	D	0.455100893863943	0.64494	4.705098	0.507011596369036	0.68460	5.223198	0.999998406160432	0.74766	0.706548	0.73137	0	0.670034	0.63936	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.78	5.78	0.91418	5.716000	0.68088	5.048000	0.46972	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.0:1.0	16.125	0.81202	819	0.41190	.	.	.	.	.	.	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	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1584.33	34	chr4	22388349	.	T	C	1584.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.8;DP=743;ExcessHet=0;FS=0.721;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.81;ReadPosRankSum=0.271;SOR=0.588	GT:AD:DP:GQ:PL	0/1:53,54:107:99:1598,0,1380	18	0	1	0
chr4	36214464	36214464	T	C	exonic	ARAP2	.	nonsynonymous SNV	ARAP2:NM_015230:exon3:c.A922G:p.R308G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.00921965881357	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.16e-06	6.156e-06	2.759e-06	5.576e-06	4.544e-06	1.5e-06	9.8e-07	1.33e-06	9.7e-07	0	0	0	0	0	0	4.544e-06	1.684e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.3	0.20357	T	0.682	0.41464	P	0.156	0.34472	B	0.000159	0.49130	D	0.089004	0.881018	0.28049	N	2.42	0.70002	M	2.8	0.11082	T	-1.48	0.36189	N	0.676	0.68342	-1.0516	0.13954	T	0.031	0.13286	T	10	0.29129857	0.46709	T	0.00922	0.24225	T	0.086	0.25016	0.24	0.17218	0.21737058555	0.21362	0.5872992145304905	0.58659	0.0713654470138	0.07990	0.435998290777	0.30030	T	0.027265	0.20004	T	-0.0763869	0.40302	T	-0.347501	0.39490	T	0.947931528091431	0.62787	D	0.784022	0.42156	T	0.189928	0.40556	0.1588956	0.37084	0.189928	0.40556	0.1588956	0.37084	-3.492	0.16320	T	.	.	0.258	0.49304	B	.	.	4.067161	0.60402	24.2	0.99550342579213968	0.71086	0.84931	0.44027	D	AEFBI	0.376767	0.46079	N	0.28788267564239	0.55532	3.717409	0.363516124453146	0.59327	4.109499	0.999992811329736	0.74766	0.615465	0.37627	0	0.633656	0.55848	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.34	5.34	0.75982	3.710000	0.54589	6.070000	0.53248	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.0:1.0	11.710	0.50883	675	0.60470	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1799.33	34	chr4	36214464	.	T	C	1799.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.128;DP=763;ExcessHet=0;FS=0.681;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.43;ReadPosRankSum=-0.214;SOR=0.61	GT:AD:DP:GQ:PL	0/1:63,71:134:99:1813,0,1542	18	0	1	0
chr4	37848627	37848627	A	G	exonic	PGM2	.	nonsynonymous SNV	PGM2:NM_018290:exon11:c.A1388G:p.Q463R	.	436	1082	4	0	0	4	0.00184502	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.218	0.0179435365599	.	0.000199681	0.0004	0	0	0	0	1.5e-05	0	0.0026	0.0002846	44	154602	rs556251474	0.0002	0.0002	7.761e-05	0.0002	0.0022	0.0001	0.0001	0.0020	0.0019	0	0	0	0	0	0.0002	1.799e-05	0.0002	0.0022	5.907e-05	5.905e-05	1.285e-05	0.0001	0.0017	3.074e-05	2.208e-05	0.0008	0.0006	0	0	0	0	0	0	0	1.47e-05	0	0.0017	0.01	0.56456	D	0.09	0.40267	T	0.222	0.30359	B	0.392	0.44215	B	0.000008	0.62929	D	0.150619	0.998299	0.44734	D	2.64	0.77224	M	0.9	0.45248	T	-2.4	0.52776	N	0.624	0.63883	-0.6498	0.62723	T	0.230	0.59534	T	10	0.043755174	0.03258	T	0.017944	0.39831	T	0.218	0.51265	0.504	0.59770	0.708901879958	0.70636	0.7712569068279075	0.77075	0.080742506992	0.09089	0.491530299187	0.37650	T	0.814299	0.95392	D	-0.371276	0.03529	T	-0.311946	0.43448	T	0.269536168673879	0.23727	T	0.845215	0.52386	T	0.28094992	0.51139	0.34806928	0.60452	0.28094992	0.51139	0.34806928	0.60452	-7.571	0.58108	D	.	.	0.126	0.26825	B	.	.	3.645730	0.51717	23.1	0.99652832905394506	0.77442	0.97920	0.78131	D	AEFBI	0.851304	0.76816	D	0.330193387856091	0.57704	3.938832	0.372561111708039	0.59878	4.169591	0.999989455438125	0.51787	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.69	4.48	0.53973	5.988000	0.70255	9.179000	0.79071	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.8731:0.0:0.0:0.1269	12.296	0.54164	802	0.44336	Alpha-D-phosphohexomutase, alpha/beta/alpha domain 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	.	.	.	.	.	.	.	.	0.02632	736.33	35	chr4	37848627	.	A	G	736.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.999;DP=698;ExcessHet=0;FS=1.847;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.09;ReadPosRankSum=0.649;SOR=1.002	GT:AD:DP:GQ:PL	0/1:46,35:81:99:750,0,1121	18	0	1	0
chr4	48025161	48025161	C	T	exonic	NIPAL1	.	nonsynonymous SNV	NIPAL1:NM_207330:exon2:c.C140T:p.T47M	.	429	1076	17	0	0	17	0.00783771	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.172	0.0345355420849	0.0002	0.000798722	0.0005	0	0	0	0	0.0003	0	0.0024	0.0004463	69	154602	rs182626350	0.0004	0.0004	0.0004	0.0005	0.0020	0.0004	0.0004	0.0017	0.0016	8.961e-05	8.944e-05	0	5.038e-05	3.744e-05	0.0017	0.0004	0.0005	0.0020	0.0004	0.0004	0.0004	0.0004	0.0021	0.0003	0.0003	0.0011	0.0009	0.0001	0	0.0003	0	0	0	0.0034	0.0005	0.0005	0.0021	0.058	0.37750	T	0.161	0.31326	T	0.007	0.14184	B	0.002	0.06944	B	0.179112	0.03168	N	1.586980	1	0.08975	N	0.55	0.14455	N	-2.7	0.90509	D	-0.61	0.24676	N	0.141	0.14054	-0.6194	0.64014	T	0.473	0.79753	T	10	0.0051031113	0.00110	T	0.034536	0.55743	D	0.172	0.43662	.	.	0.152612264143	0.14878	0.3749197183118375	0.37405	0.0756700949329	0.08493	0.217750996351	0.01184	T	0.037765	0.24597	T	-0.461658	0.00960	T	-0.442084	0.28576	T	0.0129343451459318	0.00223	T	0.607939	0.22935	T	0.011868842	0.00023	0.027589273	0.00923	0.011868842	0.00023	0.027589273	0.00923	-5.694	0.43640	T	.	.	0.077	0.11461	B	.;.	.;.	-0.211857	0.03032	0.464	0.79939718984165997	0.12970	0.05274	0.11115	N	AEFDGBIJ	0.115107	0.22645	N	-1.10966237540556	0.06471	0.2979528	-1.10204743259165	0.07661	0.3735329	0.999989403966583	0.51787	0.706298	0.61202	0	0.709663	0.81188	0	0.653264	0.51672	0	0.699875	0.68795	0	.	.	4.5	-1.03	0.09586	-0.690000	0.05240	-2.139000	0.04155	-0.316000	0.05924	0.000000	0.06391	0.000000	0.08366	0.910000	0.44547	0.3025:0.2451:0.2651:0.1873	0.683	0.00823	430	0.80826	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.000000	0.000000	0.000000	0.000000	0.008621	0.009146	0.000000	0.02632	2009.33	34	chr4	48025161	.	C	T	2009.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.9;DP=782;ExcessHet=0;FS=1.284;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.4;ReadPosRankSum=3.44;SOR=0.575	GT:AD:DP:GQ:PL	0/1:69,81:150:99:2023,0,1599	18	0	1	0
chr4	51994584	51994584	G	A	exonic	LRRC66	.	nonsynonymous SNV	LRRC66:NM_001024611:exon5:c.C2438T:p.P813L	.	421	1087	13	1	0	15	0.00685244	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.00747068174486	8.3e-05	0.00119808	0.0007	0	8.657e-05	0	0	0.0003	0	0.004	0.0006209	96	154602	rs201852965	0.0004	0.0004	0.0003	0.0005	0.0043	0.0003	0.0003	0.0039	0.0038	2.987e-05	0.0001	0.0016	2.52e-05	0	0.0023	7.014e-05	0.0005	0.0043	0.0003	0.0003	0.0002	0.0003	0.0046	0.0002	0.0002	0.0031	0.0026	0	0	0.0001	0.0023	0	0	0.0034	0.0001	0.0009	0.0046	0.542	0.06757	T	0.575	0.08654	T	0.197	0.29559	B	0.052	0.25551	B	0.968726	0.08174	N	0.983285	1	0.08975	N	1.65	0.42232	L	1.58	0.29085	T	-2.07	0.47344	N	0.053	0.02462	-0.9894	0.32753	T	0.035	0.14900	T	10	0.0047828853	0.00101	T	0.007471	0.19819	T	0.107	0.30369	.	.	0.154104182512	0.14974	0.03317373347038634	0.03265	0.0439505018323	0.04735	0.272894084454	0.06521	T	0.007813	0.07192	T	-0.640599	0.00083	T	-0.69296	0.06219	T	0.0188849794227172	0.00598	T	0.570643	0.20320	T	0.017936166	0.00316	0.037262455	0.03343	0.017936166	0.00316	0.037262455	0.03342	-3.237	0.12938	T	.	.	0.078	0.06990	B	.	.	0.655049	0.10233	6.972	0.53703547576644117	0.04992	0.03606	0.08836	N	AEFDBI	0.044990	0.07306	N	-0.9850956713548	0.08921	0.4201849	-0.996025679668643	0.09874	0.493841	0.00363253125332423	0.10212	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	4.67	1.91	0.24841	0.495000	0.22191	0.190000	0.15733	-0.105000	0.15698	0.002000	0.15269	0.000000	0.08366	0.001000	0.02609	0.2106:0.187:0.6024:0.0	4.407	0.10843	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.001359	0.002924	0.000000	0.000000	0.006098	0.000000	0.05263	4307.83	33	chr4	51994584	.	G	A	4307.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.39;DP=897;ExcessHet=0.119;FS=1.906;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.08;ReadPosRankSum=0.932;SOR=0.583	GT:AD:DP:GQ:PL	0/1:79,81:160:99:2234,0,2102	17	0	2	0
chr4	69107185	69107185	G	T	exonic	UGT2B7	.	nonsynonymous SNV	UGT2B7:NM_001074:exon4:c.G1013T:p.R338I,UGT2B7:NM_001330719:exon4:c.G1013T:p.R338I,UGT2B7:NM_001349568:exon5:c.G266T:p.R89I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.413	0.0121797837642	.	.	1.651e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs774139685	8.24e-06	8.209e-06	1.367e-06	1.518e-05	0.0002	4.39e-06	3.47e-06	1.59e-05	9.34e-06	0	0	0	0	0	0.0002	4.509e-06	3.331e-05	4.668e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.988	0.73220	D	0.879	0.80445	P	0.000005	0.62929	U	0.000000	0.999948	0.51968	D	4.425	0.98735	H	-0.12	0.64630	T	-7.69	0.95603	D	0.736	0.73645	0.157	0.85184	D	0.495	0.80869	T	9	0.87429667	0.86712	D	0.01218	0.30521	T	0.413	0.72404	0.746	0.87738	0.594056560588	0.59083	0.5662789560443178	0.56555	0.179474252234	0.20186	0.556555271149	0.46781	T	0.53243	0.83844	D	-0.0165876	0.49339	T	-0.0560975	0.66603	D	0.999769508838654	0.98882	D	0.986801	0.96078	D	0.94734603	0.95995	0.9044528	0.95293	0.94734603	0.95996	0.9044528	0.95293	-13.498	0.91310	D	.	.	0.662	0.73037	P	.;.;.	.;.;.	4.582908	0.72416	25.8	0.97869124647369499	0.36520	0.97132	0.72877	D	AEFI	0.937375	0.93505	D	0.616808515926538	0.74236	6.098695	0.457476133187253	0.65200	4.793657	0.999941310228318	0.47345	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.93	2.93	0.33092	6.779000	0.74832	.	.	0.368000	0.20244	1.000000	0.71638	0.044000	0.21668	0.683000	0.33629	0.0:0.0:1.0:0.0	11.654	0.50569	679	0.60090	.;.;.	.	.	.	.	.	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	0.000506	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1822.33	34	chr4	69107185	.	G	T	1822.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.907;DP=912;ExcessHet=0;FS=0.614;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.62;MQRankSum=-2.795;QD=12.57;ReadPosRankSum=-0.538;SOR=0.76	GT:AD:DP:GQ:PL	0/1:70,75:145:99:1836,0,1768	18	0	1	0
chr4	70158736	70158736	G	A	exonic	PRR27	.	nonsynonymous SNV	PRR27:NM_214711:exon3:c.G484A:p.A162T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.0022041180614	7.7e-05	.	4.275e-05	0	0	0	0	3.14e-05	0.0011	0.0001	3.88e-05	6	154602	rs145385271	1.607e-05	1.606e-05	1.667e-05	1.547e-05	0.0004	1.07e-05	8.94e-06	6.175e-05	2.552e-05	0	2.26e-05	0	0	0	0.0004	9.189e-06	6.782e-05	7.123e-05	2.734e-05	2.723e-05	4.015e-05	1.397e-05	4.677e-05	8.39e-06	5.31e-06	1.241e-05	6.44e-06	0	0	0	0	0	0	0.0035	4.677e-05	0	0	0.373	0.11442	T	0.549	0.09457	T	0.01	0.15535	B	0.005	0.11217	B	.	.	.	.	1	0.08975	N	0.805	0.20218	L	1.53	0.30401	T	-0.09	0.08340	N	0.069	0.04307	-1.0206	0.23519	T	0.034	0.14639	T	9	0.040138364	0.02558	T	0.002204	0.04151	T	0.010	0.01040	.	.	0.0138822411134	0.00435	0.05375508154614455	0.05317	0.0293531961187	0.03023	.	.	.	0.004542	0.03948	T	-0.409057	0.02017	T	-0.643831	0.09393	T	0.0168204613822385	0.00436	T	.	.	.	0.022231974	0.00872	0.043798592	0.05529	0.022231974	0.00872	0.043798592	0.05529	-7.007	0.54085	T	.	.	0.083	0.09433	B	.;.	.;.	-0.326289	0.02504	0.295	0.44447680550879004	0.03418	0.01549	0.05080	N	AEFDI	0.037573	0.05187	N	-1.63838098559284	0.01085	0.04709049	-1.71631837732989	0.01067	0.0479037	1.77398644575569E-4	0.05786	0.500041	0.20204	0	0.573888	0.26702	0	0.624306	0.44879	0	0.564101	0.26826	0	.	.	3.58	-4.48	0.03267	-3.565000	0.00479	0.512000	0.19089	-0.972000	0.01937	0.000000	0.06391	0.001000	0.17328	0.001000	0.02609	0.3744:0.2677:0.3579:0.0	5.045	0.13816	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	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1587.43	53	chr4	70158736	.	G	A	1587.43	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.793;DP=959;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.77;ReadPosRankSum=-0.312;SOR=0.666	GT:AD:DP:GQ:PL	0/1:35,52:87:99:1601,0,1084	18	0	1	0
chr4	72147291	72147291	A	-	exonic	NPFFR2	.	frameshift deletion	NPFFR2:NM_004885:exon4:c.742delA:p.R248Gfs*30,NPFFR2:NM_053036:exon4:c.742delA:p.R248Gfs*30,NPFFR2:NM_001144756:exon5:c.751delA:p.R251Gfs*30	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8e-05	.	8.238e-05	9.612e-05	0	0	0	0.0001	0	0	7.12e-05	11	154602	rs752091980	0.0002	0.0002	0.0002	0.0002	0.0005	0.0002	0.0002	0.0002	0.0002	0	0	0.0002	0	0	0.0005	0.0003	0.0001	0	0.0002	0.0002	0.0002	0.0001	0.0004	0.0001	0.0001	0.0002	0.0002	4.828e-05	0	0	0	0	0	0	0.0004	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2130.29	33	chr4	72147290	.	CA	C	2130.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.339;DP=777;ExcessHet=0;FS=1.284;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.83;ReadPosRankSum=-0.049;SOR=0.847	GT:AD:DP:GQ:PL	0/1:89,65:154:99:2144,0,3120	18	0	1	0
chr4	82485718	82485718	G	C	exonic	TMEM150C	.	stopgain	TMEM150C:NM_001080506:exon8:c.C543G:p.Y181X,TMEM150C:NM_001353454:exon8:c.C633G:p.Y211X	.	.	.	.	.	.	.	.	0.0001	0.182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.052e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.197	0.35620	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.554516	0.95935	D	0.558747	0.95874	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;Recessive	High;High	7.551913	0.96631	36	0.99231645482670716	0.56246	0.84936	0.44032	D	AEFBI	0.672136	0.63864	D	0.313603425530097	0.56846	3.850099	0.0790961557728284	0.43499	2.650366	0.0045372004880548	0.10604	0.615465	0.37627	0	0.588015	0.36545	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.41	-0.524	0.11325	0.925000	0.28392	2.468000	0.32884	0.667000	0.69007	1.000000	0.71638	1.000000	0.68203	0.928000	0.46473	0.5775:0.0:0.4225:0.0	10.727	0.45273	936	0.14734	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.09375	188.65	59	chr4	82485718	.	G	C	188.65	.	AC=3;AF=0.094;AN=32;BaseQRankSum=-1.174;DP=787;ExcessHet=0.3672;FS=78.247;InbreedingCoeff=-0.1404;MLEAC=3;MLEAF=0.094;MQ=60;MQRankSum=0;QD=1.19;ReadPosRankSum=1.15;SOR=8.172	GT:AD:DP:GQ:PL	0/1:44,25:69:99:116,0,720	13	0	3	3
chr4	87615730	87615733	ATAG	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	983	222	100	33	184	350	0.272131	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4444	5164.61	38	chr4	87615730	.	ATAG	*	5164.61	.	AC=16;AF=0.444;AN=36;BaseQRankSum=-0.227;DP=777;ExcessHet=1.1637;FS=2.579;InbreedingCoeff=-0.1366;MLEAC=16;MLEAF=0.444;MQ=58.46;MQRankSum=-3.184;QD=9.56;ReadPosRankSum=1.92;SOR=0.868	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:29,23:52:99:.:.:817,0,1099:.	5	3	10	1
chr4	87615731	87615731	T	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	147	40	1	11	27	50	0.223301	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7632	118.42	38	chr4	87615731	.	T	*	118.42	.	AC=29;AF=0.763;AN=38;DP=779;ExcessHet=4.0268;FS=1.141;InbreedingCoeff=-0.2667;MLEAC=29;MLEAF=0.763;MQ=58.33;QD=0.23;SOR=0.84	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:29,23:52:99:.:.:817,0,1099:.	1	11	7	0
chr4	87615734	87615767	CAGTGACAGCAGCAACAGCAGTGACAGCAGCGAT	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	1008	200	99	33	182	347	0.292035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4444	4778.36	38	chr4	87615734	.	CAGTGACAGCAGCAACAGCAGTGACAGCAGCGAT	*	4778.36	.	AC=16;AF=0.444;AN=36;BaseQRankSum=-0.944;DP=851;ExcessHet=1.1637;FS=2.579;InbreedingCoeff=-0.1366;MLEAC=16;MLEAF=0.444;MQ=58.45;MQRankSum=-3.184;QD=9.26;ReadPosRankSum=2.06;SOR=0.868	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:29,23:52:99:.:.:817,0,1099:.	5	3	10	1
chr4	88074922	88074922	G	C	exonic	PKD2	.	nonsynonymous SNV	PKD2:NM_000297:exon14:c.G2633C:p.R878T	Polycystic kidney disease 2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.664	0.193772046792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.46129	D	0.041	0.50514	D	0.958	0.54977	D	0.477	0.46994	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.795	0.47270	L	-0.71	0.94210	T	-3.28	0.75456	D	0.634	0.71143	0.635	0.92355	D	0.764	0.91977	D	10	0.634155	0.68686	D	0.193772	0.86323	D	0.664	0.87479	0.397	0.42426	0.801497669902	0.79964	0.5172733941162925	0.51650	0.629044018117	0.56961	0.750374495983	0.74502	T	0.671874	0.90270	D	0.256558	0.79210	D	0.130752	0.78941	D	0.945891737937927	0.62357	D	0.887111	0.61778	D	0.7248052	0.79430	0.35795867	0.61281	0.7248052	0.79432	0.35795867	0.61280	-9.61	0.71542	D	0.5364749130101842	0.60667	0.794	0.77002	P	.;.;.	.;.;.	4.563145	0.71921	25.7	0.9842603256989868	0.41343	0.97873	0.77771	D	AEFBI	0.689637	0.65023	D	0.533677920757637	0.69094	5.308532	0.547393928302615	0.71217	5.621106	0.999999996677224	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.01	5.01	0.66477	4.769000	0.61997	6.234000	0.55243	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0789:0.0:0.9211:0.0	12.750	0.56677	616	0.66398	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05263	662.54	152	chr4	88074922	.	G	C	662.54	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-3.875;DP=1096;ExcessHet=0.119;FS=72.925;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=3.33;ReadPosRankSum=1.33;SOR=8.439	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:62,16:78:99:0|1:88074922_G_C:397,0,2467:88074922	17	0	2	0
chr4	88074923	88074923	G	C	exonic	PKD2	.	nonsynonymous SNV	PKD2:NM_000297:exon14:c.G2634C:p.R878S	Polycystic kidney disease 2	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.580	0.117150427752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.006	0.70582	D	0.919	0.50927	P	0.324	0.41853	B	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	1.795	0.47270	L	-0.71	0.94260	T	-3.31	0.75776	D	0.572	0.72031	0.182	0.85604	D	0.695	0.89499	D	10	0.42900562	0.57366	T	0.11715	0.79684	D	0.580	0.83081	0.368	0.37687	0.909963269897	0.90906	0.5166367591930537	0.51586	0.497480275096	0.48245	0.722716212273	0.70442	T	0.675153	0.90401	D	0.25385	0.78959	D	0.126861	0.78686	D	0.970878064632416	0.69109	D	0.938806	0.77472	D	0.896837	0.91102	0.6834038	0.81389	0.896837	0.91103	0.6834038	0.81390	-8.895	0.67018	D	0.6920299610958898	0.76989	0.908	0.83281	P	.;.;.	.;.;.	3.508895	0.49129	22.7	0.99398677795618395	0.62702	0.90280	0.51331	D	AEFBI	0.459311	0.50997	N	0.113047022420986	0.47071	2.937997	0.0907906910271631	0.44084	2.697048	0.993910564295063	0.33408	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.01	2.32	0.27895	0.055000	0.14112	-0.757000	0.07552	0.674000	0.70861	0.961000	0.33663	0.000000	0.08366	0.996000	0.76049	0.4372:0.0:0.5628:0.0	8.137	0.30223	616	0.66398	.;.;.	.	.	.	.	.	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	669.77	152	chr4	88074923	.	G	C	669.77	.	AC=3;AF=0.1;AN=30;BaseQRankSum=-1.65;DP=1418;ExcessHet=0.3672;FS=72.925;InbreedingCoeff=-0.1518;MLEAC=4;MLEAF=0.133;MQ=60;MQRankSum=0;QD=1.9;ReadPosRankSum=1.23;SOR=8.439	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:62,16:78:99:0|1:88074922_G_C:397,0,2467:88074922	12	0	3	4
chr4	88074924	88074924	G	C	exonic	PKD2	.	nonsynonymous SNV	PKD2:NM_000297:exon14:c.G2635C:p.E879Q	Polycystic kidney disease 2	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.445	0.112397220531	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	5.473e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.019	0.59159	D	0.791	0.44643	P	0.272	0.39956	B	0.000009	0.62929	D	0.108957	0.999999	0.58761	D	0.97	0.24054	L	-0.38	0.92721	T	-1.72	0.50337	N	0.297	0.33578	0.520	0.90832	D	0.688	0.89209	D	10	0.3064313	0.48153	T	0.112397	0.79053	D	0.445	0.74727	0.236	0.16608	0.809187118209	0.80740	0.2323479368635527	0.23149	0.441181269079	0.44114	0.624371409416	0.56347	T	0.458108	0.79621	T	0.0415826	0.57252	T	-0.178046	0.56702	T	0.874872863292694	0.52474	D	0.941106	0.80823	D	0.5887539	0.72083	0.31472978	0.57463	0.5887539	0.72084	0.31472978	0.57462	-7.72	0.59147	D	0.4693575316286415	0.55010	0.334	0.55466	B	.;.;.	.;.;.	6.160708	0.94696	34	0.99806513379381534	0.89085	0.99479	0.96535	D	AEFBI	0.914687	0.87842	D	0.526904719780556	0.68688	5.251508	0.595493025066105	0.74617	6.167515	0.99999999999997	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.01	5.01	0.66477	9.708000	0.97969	11.277000	0.91602	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	18.352	0.90284	616	0.66398	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.07895	664.87	152	chr4	88074924	.	G	C	664.87	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-3.468;DP=1554;ExcessHet=0.3672;FS=72.925;InbreedingCoeff=-0.0876;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=1.88;ReadPosRankSum=0.74;SOR=8.439	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:62,16:78:99:0|1:88074922_G_C:397,0,2467:88074922	16	0	3	0
chr4	88074926	88074926	G	C	exonic	PKD2	.	nonsynonymous SNV	PKD2:NM_000297:exon14:c.G2637C:p.E879D	Polycystic kidney disease 2	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.238	0.0132159678033	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.463	0.11696	T	0.506	0.15988	T	0.001	0.07471	B	0.002	0.06944	B	0.000009	0.62929	D	0.108957	0.994276	0.42222	D	-0.175	0.04276	N	-0.12	0.91748	T	-0.39	0.23372	N	0.175	0.18784	-0.6676	0.61937	T	0.446	0.78240	T	10	0.06906125	0.09857	T	0.013216	0.32452	T	0.238	0.54217	0.264	0.20946	0.543338240752	0.53986	0.0943286253012517	0.09364	0.136679722396	0.15416	0.641091346741	0.58718	T	0.217668	0.58017	T	-0.0922547	0.37703	T	-0.370294	0.36854	T	0.343256384134293	0.26753	T	0.837116	0.53152	T	0.21597725	0.44044	0.06672414	0.13707	0.21597725	0.44044	0.06672414	0.13707	-3.285	0.13545	T	0.07235216256458038	0.02959	0.097	0.15832	B	.;.;.	.;.;.	1.362800	0.17722	13.33	0.97928484891759715	0.36935	0.81502	0.40892	D	AEFBI	0.180401	0.30771	N	-0.499784004579977	0.22087	1.176955	-0.347792612377083	0.26577	1.468931	0.98905284296543	0.31709	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.01	0.784	0.17723	0.433000	0.21196	0.778000	0.21455	0.674000	0.70861	0.998000	0.41325	0.998000	0.33993	0.998000	0.85391	0.3295:0.1252:0.4019:0.1434	1.682	0.02663	616	0.66398	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.07895	681.82	148	chr4	88074926	.	G	C	681.82	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-2.303;DP=1459;ExcessHet=0.3672;FS=149.221;InbreedingCoeff=-0.0864;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=1.96;ReadPosRankSum=1.09;SOR=8.015	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:60,16:76:99:0|1:88074922_G_C:402,0,2454:88074922	16	0	3	0
chr4	88074927	88074927	G	C	exonic	PKD2	.	nonsynonymous SNV	PKD2:NM_000297:exon14:c.G2638C:p.V880L	Polycystic kidney disease 2	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.495	0.186659707726	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.159	0.23813	T	0.297	0.20551	T	0.994	0.66517	D	0.97	0.72226	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.265	0.31966	L	-0.18	0.91363	T	-1.05	0.31170	N	0.569	0.64903	0.598	0.91874	D	0.793	0.92976	D	10	0.531262	0.63196	D	0.18666	0.85889	D	0.495	0.78036	0.262	0.20631	0.749126465336	0.74686	0.3240488697657572	0.32317	0.182851890055	0.20557	0.781355142593	0.79132	T	0.241685	0.61027	T	0.210705	0.74897	D	0.064886	0.74569	D	0.883527338504791	0.53370	D	0.874113	0.58433	D	0.4644023	0.64945	0.31679553	0.57658	0.4644023	0.64946	0.31679553	0.57657	-6.43	0.49744	T	0.4873731798686394	0.56489	0.616	0.69546	P	.;.;.	.;.;.	4.222023	0.63864	24.6	0.99771217554887515	0.85918	0.99479	0.96535	D	AEFBI	0.920682	0.89303	D	0.741181393272166	0.82329	7.735918	0.739806151862471	0.85392	8.567346	0.99999999999997	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.01	5.01	0.66477	9.708000	0.97969	8.008000	0.76178	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.352	0.90284	616	0.66398	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.125	690.46	116	chr4	88074927	.	G	C	690.46	.	AC=3;AF=0.125;AN=24;BaseQRankSum=-1.365;DP=1500;ExcessHet=0.3672;FS=265.844;InbreedingCoeff=-0.2063;MLEAC=4;MLEAF=0.167;MQ=60;MQRankSum=0;QD=2.47;ReadPosRankSum=1.18;SOR=8.662	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:60,15:75:99:0|1:88074922_G_C:360,0,2457:88074922	9	0	3	7
chr4	88268282	88268282	C	T	exonic	PPM1K	.	nonsynonymous SNV	PPM1K:NM_152542:exon5:c.G760A:p.V254I	.	.	.	.	.	.	.	.	.	.	.	1882410	Maple_syrup_urine_disease,_mild_variant	MONDO:MONDO:0014057,MedGen:C3554575,OMIM:615135,Orphanet:511	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.216	0.00917803285648	0.0002	0.000599042	0.0003	0	8.642e-05	0.0001	0	8.991e-05	0	0.0015	0.0002329	36	154602	rs149542046	8.414e-05	8.414e-05	6.262e-05	0.0001	0.0008	7.203e-05	6.75e-05	0.0007	0.0006	2.987e-05	6.708e-05	0	2.519e-05	0	0.0005	2.878e-05	0.0002	0.0008	5.254e-05	5.25e-05	3.855e-05	6.716e-05	0.0012	2.556e-05	1.829e-05	0.0005	0.0004	0	0	6.542e-05	0	0	0	0	1.47e-05	0	0.0012	0.0	0.91255	D	0.211	0.26631	T	0.963	0.55692	D	0.696	0.54017	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.09	0.57893	M	2.09	0.20122	T	-0.9	0.24244	N	0.406	0.46086	-1.0279	0.21136	T	0.101	0.37543	T	10	0.04021308	0.02571	T	0.009178	0.24130	T	0.216	0.50959	.	.	0.752511674912	0.75027	0.6833170224610805	0.68270	0.553159282221	0.52090	0.779396772385	0.78837	T	0.12892	0.45688	T	-0.323535	0.06612	T	-0.283064	0.46490	T	0.196047378047823	0.20195	T	0.950005	0.89615	D	0.64105517	0.74887	0.5864237	0.76014	0.64105517	0.74888	0.5864237	0.76015	-7.91	0.60455	D	.	.	0.179	0.43448	B	.;.;.	.;.;.	4.830483	0.78760	27.0	0.9985298598836847	0.93191	0.98390	0.82288	D	AEFBI	0.877200	0.80169	D	0.717060133172923	0.80751	7.364082	0.713546492506702	0.83409	8.013558	0.999999991373662	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.683762	0.67416	0	.	.	4.94	4.94	0.64645	7.570000	0.81721	7.425000	0.58746	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:1.0:0.0:0.0	17.475	0.87550	670	0.60992	PPM-type phosphatase domain|PPM-type phosphatase domain|PPM-type phosphatase domain|PPM-type phosphatase domain|PPM-type phosphatase domain;PPM-type phosphatase domain|PPM-type phosphatase domain|PPM-type phosphatase domain|PPM-type phosphatase domain;PPM-type phosphatase domain|PPM-type phosphatase domain|PPM-type phosphatase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.004076	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	2125.33	33	chr4	88268282	.	C	T	2125.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.263;DP=794;ExcessHet=0;FS=1.222;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.88;ReadPosRankSum=-0.537;SOR=0.57	GT:AD:DP:GQ:PL	0/1:79,86:165:99:2139,0,1912	18	0	1	0
chr4	89113599	89113599	A	G	exonic	TIGD2	.	nonsynonymous SNV	TIGD2:NM_001382380:exon2:c.A625G:p.I209V,TIGD2:NM_145715:exon2:c.A625G:p.I209V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.00255541439843	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.482	0.08188	T	0.777	0.04372	T	0.01	0.15535	B	0.014	0.16862	B	0.001150	0.40056	U	0.000000	0.996628	0.22956	N	0.34	0.10450	N	0.97	0.42502	T	-0.44	0.14588	N	0.207	0.23380	-1.0209	0.23421	T	0.041	0.17657	T	10	0.14162946	0.26908	T	0.002555	0.05121	T	0.077	0.22490	0.606	0.73825	0.0806252709748	0.07271	0.13765932295039565	0.13689	0.107368357967	0.12116	0.775893688202	0.78308	T	0.013056	0.11362	T	-0.223477	0.17519	T	-0.558785	0.16491	T	0.0811668559908867	0.10136	T	0.562944	0.19809	T	0.03537188	0.04150	0.043256693	0.05342	0.03537188	0.04150	0.043256693	0.05342	-3.231	0.12863	T	.	.	0.141	0.34160	B	.;.	.;.	2.386713	0.30647	18.50	0.83240909406676467	0.14618	0.56264	0.30073	D	ALL	0.157337	0.28283	N	-0.520303011217118	0.21425	1.136879	-0.322129071818974	0.27385	1.519198	0.999999999060547	0.74766	0.653281	0.48532	0	0.659037	0.61890	0	0.658983	0.55881	0	0.592323	0.36904	0	.	.	3.97	2.69	0.30923	0.940000	0.28589	9.359000	0.80360	0.754000	0.88378	0.998000	0.41325	1.000000	0.68203	1.000000	0.97212	0.6441:0.3559:0.0:0.0	8.319	0.31280	862	0.33134	DDE superfamily endonuclease domain;DDE superfamily endonuclease 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	.	.	.	.	.	.	.	.	0.02632	56.34	33	chr4	89113599	.	A	G	56.34	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.82;DP=1160;ExcessHet=0;FS=115.834;InbreedingCoeff=-0.0272;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.44;ReadPosRankSum=2.48;SOR=9.17	GT:AD:DP:GQ:PL	0/1:101,28:129:70:70,0,2398	18	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	.	.	.	.	.	.	.	.	0.4444	4800.47	119	chr4	99318097	.	C	G	4800.47	.	AC=16;AF=0.444;AN=36;BaseQRankSum=-2.037;DP=2929;ExcessHet=25.4433;FS=292.214;InbreedingCoeff=-0.7674;MLEAC=17;MLEAF=0.472;MQ=59.96;MQRankSum=0;QD=2.15;ReadPosRankSum=0.505;SOR=13.638	GT:AD:DP:GQ:PL	0/1:104,30:134:59:59,0,2113	2	0	16	1
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	.	.	.	.	.	.	.	.	0.4474	4767.86	165	chr4	99347057	.	C	G	4767.86	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-1.37;DP=2499;ExcessHet=31.086;FS=313.504;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=59.98;MQRankSum=0;QD=2.44;ReadPosRankSum=-0.377;SOR=11.97	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:71,37:108:99:.:.:192,0,1213:.	2	0	17	0
chr4	99591235	99591235	G	A	exonic	MTTP	.	nonsynonymous SNV	MTTP:NM_001300785:exon5:c.G583A:p.V195I,MTTP:NM_000253:exon6:c.G502A:p.V168I	Abetalipoproteinemia, Autosomal recessive	0	1475	46	1	0	48	0.0160107	0.7313	0.39	YES	294778	not_specified|not_provided|Abetalipoproteinaemia	MedGen:CN169374|MedGen:C3661900|Human_Phenotype_Ontology:HP:0008181,MONDO:MONDO:0008692,MedGen:C0000744,OMIM:200100,Orphanet:14	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.123	.	0.0078	0.00778754	0.0102	0.0020	0.0086	0.0118	0.0045	0.0117	0.0077	0.0118	0.0099093	1532	154602	rs61750974	0.0097	0.0097	0.0095	0.0099	0.0176	0.0096	0.0095	0.0148	0.0138	0.0017	0.0083	0.0304	0.0103	0.0061	0.0176	0.0092	0.0120	0.0133	0.0079	0.0079	0.0080	0.0079	0.0129	0.0075	0.0074	0.0105	0.0095	0.0021	0	0.0084	0.0337	0.0129	0.0035	0.0170	0.0099	0.0123	0.0124	0.0	0.91255	D	0.0	0.92824	D	0.967	0.59353	D	0.761	0.59331	P	0.000254	0.46924	D	0.221763	0.950724	0.37708	D	2.75	0.80375	M	1.96	0.41750	T	-0.44	0.14588	N	0.114	0.11054	-0.7853	0.56002	T	0.114	0.40536	T	9	0.009104729	0.00291	T	.	.	.	0.123	0.34020	.	.	.	.	0.1991287038952996	0.19829	0.239867016436	0.26532	0.383642137051	0.22772	T	0.022931	0.43860	T	-0.542262	0.00325	T	-0.538724	0.18423	T	0.064671118824304	0.07882	T	0.652235	0.30204	T	0.045035552	0.07302	0.063721694	0.12664	0.037605893	0.04852	0.063721694	0.12664	-4.065	0.24772	T	0.2709707601705125	0.36454	0.084	0.09772	B	.;.;.;.	.;.;.;.	3.787366	0.54495	23.5	0.9976857270100743	0.85666	0.80525	0.40140	D	AEFI	0.722971	0.67273	D	0.448519150340318	0.64118	4.659456	0.44791500378416	0.64582	4.716802	0.387949059409406	0.20020	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.9	5.07	0.68106	4.279000	0.58747	3.962000	0.40756	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0749:0.0:0.9251:0.0	13.015	0.58159	918	0.19598	.;Lipid transport protein, N-terminal|Lipid transport protein, N-terminal|Lipid transport protein, N-terminal;Lipid transport protein, N-terminal|Lipid transport protein, N-terminal|Lipid transport protein, N-terminal;Lipid transport protein, N-terminal|Lipid transport protein, N-terminal|Lipid transport protein, N-terminal	.	.	.	.	.	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	0.014099	0.005051	0.017663	0.011696	0.000000	0.008621	0.018293	0.015152	0.1053	3098.41	35	chr4	99591235	.	G	A	3098.41	.	AC=4;AF=0.105;AN=38;BaseQRankSum=0.484;DP=728;ExcessHet=0.0101;FS=0.585;InbreedingCoeff=0.4412;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=17.12;ReadPosRankSum=-0.358;SOR=0.784	GT:AD:DP:GQ:PL	0/1:39,20:59:99:436,0,965	16	1	2	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	.	.	.	.	.	.	.	.	0.3529	1714.38	33	chr4	106925843	.	C	T	1714.38	.	AC=12;AF=0.353;AN=34;BaseQRankSum=-3.035;DP=2024;ExcessHet=11.1788;FS=191.101;InbreedingCoeff=-0.5178;MLEAC=13;MLEAF=0.382;MQ=60;MQRankSum=0;QD=1.1;ReadPosRankSum=1.39;SOR=10.85	GT:AD:DP:GQ:PL	0/1:120,43:163:83:83,0,2494	5	0	12	2
chr4	121813268	121813268	A	G	exonic	EXOSC9	.	nonsynonymous SNV	EXOSC9:NM_001034194:exon9:c.A862G:p.I288V,EXOSC9:NM_005033:exon9:c.A862G:p.I288V	.	.	.	.	.	.	.	.	.	.	.	1360153	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.042	0.00576734358985	0.0003	0.000199681	0.0001	0	0	0	0	0.0002	0	6.057e-05	0.00011	17	154602	rs34457380	9.51e-05	9.508e-05	8.033e-05	0.0001	0.0002	8.203e-05	7.718e-05	9.613e-05	8.96e-05	5.975e-05	2.236e-05	0	7.564e-05	0	0.0002	0.0001	6.625e-05	3.479e-05	0.0001	0.0001	0.0002	9.396e-05	0.0002	8.658e-05	7.251e-05	0.0002	0.0001	2.405e-05	0	0	0	0.0002	0	0	0.0002	0.0005	0	0.239	0.29420	T	0.595	0.08419	T	0.0	0.02946	B	0.0	0.04355	B	0.000147	0.49130	N	0.258364	0.999001	0.45857	D	0.975	0.24501	L	1.87	0.25018	T	-0.37	0.13226	N	0.22	0.24634	-1.0673	0.10017	T	0.042	0.17910	T	10	0.05305022	0.05434	T	0.005767	0.14982	T	0.042	0.11227	.	.	0.173771789658	0.16945	0.19315542129959842	0.19233	0.0549176576499	0.06084	0.342042416334	0.16744	T	0.012731	0.11141	T	-0.485094	0.00691	T	-0.649867	0.08963	T	0.0886996622977503	0.11062	T	0.823718	0.48487	T	0.07847878	0.17874	0.06680852	0.13738	0.07847878	0.17874	0.06680852	0.13737	-3.227	0.12813	T	0.11029195706250744	0.09305	0.061	0.02200	B	.;.;.	.;.;.	2.395845	0.30777	18.54	0.98832433358636629	0.46985	0.82022	0.41316	D	AEFBCI	0.255146	0.37432	N	-0.212169926200213	0.32634	1.842535	-0.0228684581405713	0.38683	2.282644	0.999240855674848	0.38873	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.9	4.72	0.59248	2.788000	0.47495	7.096000	0.57520	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.7172:0.1408:0.142:0.0	5.880	0.18095	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	.	.	.	.	.	.	.	.	0.02632	1465.33	34	chr4	121813268	.	A	G	1465.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.767;DP=735;ExcessHet=0;FS=1.699;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.51;ReadPosRankSum=0.26;SOR=0.944	GT:AD:DP:GQ:PL	0/1:44,57:101:99:1479,0,1064	18	0	1	0
chr4	128959662	128959662	C	G	exonic	SCLT1	.	nonsynonymous SNV	SCLT1:NM_144643:exon12:c.G985C:p.A329P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.238	0.0271346558209	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.848e-07	2.052e-06	1.363e-06	0	9.003e-07	0	0	.	.	0	0	0	0	0	0	9.003e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.42783	D	0.019	0.59159	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	2.89	0.83701	M	2.91	0.10008	T	-2.83	0.59710	D	0.898	0.89800	-1.1254	0.02016	T	0.084	0.32872	T	9	0.78856647	0.78460	D	0.027135	0.49983	D	0.238	0.54217	0.274	0.22528	0.546693616777	0.54325	0.751990389580637	0.75146	0.460371396877	0.45595	0.490226864815	0.37469	T	0.433536	0.78093	T	0.196568	0.73572	D	0.04458	0.73228	D	0.985214054584503	0.76274	D	0.80302	0.45008	T	0.81712574	0.85026	0.7704095	0.86444	0.81712574	0.85028	0.7704095	0.86445	-15.801	0.97448	D	.	.	0.912	0.83630	P	.	.	3.845978	0.55678	23.6	0.99800040371157073	0.88461	0.95766	0.66063	D	AEFBI	0.751646	0.69239	D	0.530553789898404	0.68905	5.282067	0.462705299233699	0.65537	4.836318	0.999999780221931	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.05	5.05	0.67566	5.803000	0.68791	5.745000	0.49595	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.010000	0.09038	0.0:1.0:0.0:0.0	18.047	0.89261	459	0.78817	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.03125	65.59	70	chr4	128959662	.	C	G	65.59	.	AC=1;AF=0.031;AN=32;BaseQRankSum=-3.127;DP=1340;ExcessHet=0;FS=99.707;InbreedingCoeff=-0.073;MLEAC=1;MLEAF=0.031;MQ=60;MQRankSum=0;QD=0.56;ReadPosRankSum=1.18;SOR=6.665	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:90,27:117:78:0|1:128959662_C_G:78,0,2539:128959662	15	0	1	3
chr4	128959663	128959663	C	G	exonic	SCLT1	.	nonsynonymous SNV	SCLT1:NM_144643:exon12:c.G984C:p.E328D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.00680759020067	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.241	0.17643	T	0.136	0.34009	T	0.085	0.24868	B	0.074	0.28220	B	0.000007	0.62929	D	0.105878	0.998181	0.81001	D	2.11	0.58565	M	3.0	0.09167	T	-1.1	0.28497	N	0.081	0.05670	-1.0248	0.22148	T	0.023	0.09650	T	9	0.04894221	0.04413	T	0.006808	0.18010	T	0.067	0.19503	0.342	0.33464	0.32580497728	0.32196	0.0783725683417193	0.07773	0.237752420551	0.26321	0.414651274681	0.27100	T	0.028078	0.20418	T	-0.298842	0.08770	T	-0.667042	0.07799	T	0.358061403036118	0.27333	T	0.678032	0.28700	T	0.069728285	0.15302	0.06307916	0.12441	0.069728285	0.15301	0.06307916	0.12441	-3.703	0.19363	T	.	.	0.122	0.25429	B	.	.	0.508506	0.08773	5.551	0.98789090798183143	0.46253	0.58481	0.30653	D	AEFBI	0.120065	0.23406	N	-0.476882436029218	0.22841	1.222388	-0.433494643259965	0.24021	1.313097	0.277278108199118	0.18952	0.706298	0.61202	0	0.709663	0.81188	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.05	1.14	0.19817	0.372000	0.20199	0.053000	0.14027	0.549000	0.26987	0.999000	0.42656	0.959000	0.29258	0.011000	0.09372	0.2474:0.1746:0.0:0.578	4.321	0.10457	459	0.78817	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	64.33	44	chr4	128959663	.	C	G	64.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.838;DP=1234;ExcessHet=0;FS=99.707;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.55;ReadPosRankSum=1.46;SOR=6.665	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:90,27:117:78:0|1:128959662_C_G:78,0,2539:128959662	18	0	1	0
chr4	139059533	139059533	T	C	exonic	ELF2	.	nonsynonymous SNV	ELF2:NM_001276457:exon6:c.A965G:p.Q322R,ELF2:NM_001276459:exon6:c.A929G:p.Q310R,ELF2:NM_001276458:exon7:c.A1016G:p.Q339R,ELF2:NM_006874:exon7:c.A1052G:p.Q351R,ELF2:NM_001371336:exon9:c.A1145G:p.Q382R,ELF2:NM_001331036:exon10:c.A1232G:p.Q411R,ELF2:NM_001371338:exon10:c.A833G:p.Q278R,ELF2:NM_001371339:exon10:c.A797G:p.Q266R,ELF2:NM_201999:exon10:c.A1196G:p.Q399R,ELF2:NM_001371324:exon11:c.A1196G:p.Q399R,ELF2:NM_001371337:exon11:c.A884G:p.Q295R	.	430	1090	2	0	0	2	0.00091659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.165	0.0119621359016	0.0002	0.000199681	0.0004	9.664e-05	0.0002	0	0.0005	0.0006	0	0	0.0004204	65	154602	rs143283803	0.0006	0.0006	0.0006	0.0006	0.0009	0.0006	0.0006	0.0007	0.0006	5.975e-05	0.0002	0.0005	0	0.0011	0.0009	0.0007	0.0010	4.638e-05	0.0006	0.0006	0.0006	0.0006	0.0009	0.0005	0.0005	0.0007	0.0007	0.0002	0	0.0006	0.0006	0	0.0008	0	0.0009	0.0014	0	0.004	0.72154	D	0.124	0.36630	T	0.996	0.68779	D	0.986	0.76916	D	0.000001	0.62929	D	0.100025	0.99996	0.52935	D	2.28	0.64929	M	2.43	0.18248	T	-2.25	0.51478	N	0.598	0.65330	-1.1236	0.02116	T	0.078	0.31133	T	9	0.107719004	0.20022	T	0.011962	0.30096	T	0.165	0.42395	.	.	0.458486717628	0.45474	0.7956683238637733	0.79519	1.03432331346	0.75527	0.743468403816	0.73482	T	0.155552	0.49733	T	-0.235552	0.15921	T	-0.161571	0.58210	T	0.085759311914444	0.10707	T	0.958404	0.84340	D	0.39088526	0.60095	0.44864988	0.67902	0.39088526	0.60095	0.44864988	0.67903	-6.781	0.56174	T	0.4165673867022491	0.50599	0.408	0.61434	A	.;.;.;.;.	.;.;.;.;.	4.541042	0.71374	25.7	0.99733917155424012	0.82975	0.99302	0.94196	D	AEFBI	0.746095	0.68857	D	0.496077510597332	0.66861	5.00517	0.547540418748856	0.71224	5.622669	0.999999995804373	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.6	5.6	0.84997	4.430000	0.59654	7.944000	0.75617	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.778	0.78011	653	0.62661	.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	908.33	34	chr4	139059533	.	T	C	908.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.78;DP=717;ExcessHet=0;FS=3.988;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.47;MQRankSum=0.192;QD=9.98;ReadPosRankSum=-1.183;SOR=1.133	GT:AD:DP:GQ:PL	0/1:52,39:91:99:922,0,1218	18	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	.	.	.	.	.	.	.	.	0.4474	7878.87	96	chr4	140563137	.	C	G	7878.87	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-2.322;DP=1983;ExcessHet=31.086;FS=206.252;InbreedingCoeff=-0.8096;MLEAC=17;MLEAF=0.447;MQ=60;MQRankSum=0;QD=4.69;ReadPosRankSum=0;SOR=12.869	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:50,40:90:99:0|1:140563137_C_G:665,0,1375:140563137	2	0	17	0
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	.	.	.	.	.	.	.	.	0.4737	9144.3	96	chr4	140563138	.	C	G	9144.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-1.858;DP=1991;ExcessHet=38.2876;FS=239.142;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=60;MQRankSum=0;QD=5.23;ReadPosRankSum=-0.093;SOR=13.038	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:50,40:90:99:0|1:140563137_C_G:665,0,1375:140563137	1	0	18	0
chr4	151708044	151708044	C	T	exonic	GATB	.	nonsynonymous SNV	GATB:NM_001363341:exon6:c.G821A:p.G274D,GATB:NM_004564:exon6:c.G821A:p.G274D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.733	0.121624649704	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.78490	D	0.005	0.76473	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.04	0.96988	H	0.56	0.55090	T	-6.23	0.90490	D	0.96	0.96984	0.426	0.89490	D	0.550	0.83508	D	10	0.9553219	0.94890	D	0.121625	0.80243	D	0.733	0.90677	0.821	0.93395	0.878830842277	0.87764	0.9086204141869968	0.90835	0.684635313878	0.60234	0.662367165089	0.61748	T	0.393589	0.75295	T	0.339877	0.85825	D	0.250433	0.85638	D	0.999302983283997	0.96892	D	0.961904	0.97315	D	0.92816687	0.94053	0.8893594	0.94221	0.92816687	0.94054	0.8893594	0.94222	-16.077	0.97874	D	0.6899862140880416	0.76757	0.656	0.80970	P	.;.;.	.;.;.	4.963804	0.82096	27.7	0.99863650554017336	0.94184	0.98703	0.85783	D	AEFBI	0.909742	0.86676	D	1.05680153851969	0.97247	15.81602	0.959006744049276	0.97664	16.53196	0.999999999999999	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.71	5.71	0.89031	7.672000	0.82948	7.680000	0.65243	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.789000	0.37270	0.0:1.0:0.0:0.0	19.839	0.96672	270	0.89404	Aspartyl/Glutamyl-tRNA(Gln) amidotransferase, subunit B/E, catalytic;Aspartyl/Glutamyl-tRNA(Gln) amidotransferase, subunit B/E, catalytic;Aspartyl/Glutamyl-tRNA(Gln) amidotransferase, subunit B/E, catalytic	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1044.33	35	chr4	151708044	.	C	T	1044.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.957;DP=749;ExcessHet=0;FS=1.493;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.63;ReadPosRankSum=1.33;SOR=0.85	GT:AD:DP:GQ:PL	0/1:76,45:121:99:1058,0,1903	18	0	1	0
chr4	163351277	163351277	C	T	exonic	NPY5R	.	nonsynonymous SNV	NPY5R:NM_001317091:exon4:c.C1004T:p.T335I,NPY5R:NM_006174:exon4:c.C1004T:p.T335I,NPY5R:NM_001317092:exon5:c.C1004T:p.T335I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.0108311932205	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.104677	0.19692	N	0.353677	0.999984	0.18198	N	-0.175	0.04276	N	-0.57	0.71307	T	0.96	0.01488	N	0.085	0.06190	-1.0193	0.23943	T	0.095	0.35950	T	10	0.05253467	0.05304	T	0.010831	0.27810	T	0.032	0.07718	0.322	0.30226	0.653558895992	0.65067	0.2584225505867246	0.25756	0.219413517028	0.24476	0.368647158146	0.20638	T	0.068079	0.33364	T	-0.262813	0.12574	T	-0.615289	0.11559	T	0.0353402179298995	0.02867	T	0.630337	0.24523	T	0.02558421	0.01512	0.03878973	0.03824	0.02558421	0.01512	0.03878973	0.03824	-3.666	0.18818	T	.	.	0.082	0.09239	B	.;.;.	.;.;.	1.490155	0.19171	14.13	0.11606059234810664	0.00179	0.29849	0.23929	N	AEFBI	0.056203	0.10370	N	-0.71292391236622	0.15658	0.7910328	-0.532740420866914	0.21266	1.149631	0.00524209280393492	0.10876	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.49	1.6	0.22686	2.331000	0.43552	1.720000	0.28254	0.549000	0.26987	0.876000	0.30908	0.968000	0.29604	0.989000	0.64315	0.0:0.3731:0.0:0.6269	5.888	0.18141	988	0.01987	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1879.33	44	chr4	163351277	.	C	T	1879.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.432;DP=877;ExcessHet=0;FS=7.499;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.14;ReadPosRankSum=-0.849;SOR=1.249	GT:AD:DP:GQ:PL	0/1:75,68:143:99:1893,0,1996	18	0	1	0
chr4	166065758	166065758	G	A	exonic	TLL1	.	nonsynonymous SNV	TLL1:NM_012464:exon16:c.G2083A:p.A695T	Atrial septal defect 6, Autosomal dominant	1	1519	2	0	0	2	0.000657895	.	.	.	3217075	TLL1-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.102	0.00611772823466	0.0003	0.000399361	0.0005	0.0002	0.0015	0	0	0.0007	0	0.0001	0.0004851	75	154602	rs150316679	0.0004	0.0004	0.0004	0.0004	0.0076	0.0004	0.0004	0.0058	0.0052	0.0001	0.0009	0.0041	0	0	0.0076	0.0003	0.0009	0.0001	0.0003	0.0003	0.0003	0.0004	0.0004	0.0003	0.0002	0.0003	0.0002	0.0001	0	0.0004	0.0029	0	0	0.0068	0.0004	0.0009	0	0.264	0.17126	T	0.549	0.09555	T	0.006	0.13644	B	0.004	0.17295	B	0.000017	0.62929	U	0.068239	0.978728	0.39490	D	-0.96	0.01244	N	2.24	0.17923	T	-0.08	0.12099	N	0.155	0.17002	-0.9996	0.30030	T	0.014	0.05657	T	10	0.009457171	0.00213	T	0.006118	0.16023	T	0.102	0.29158	.	.	0.301789629655	0.29801	0.3169030248986087	0.31603	0.244945792748	0.27014	0.465516358614	0.34066	T	0.022015	0.17048	T	-0.6119	0.00123	T	-0.744464	0.03706	T	0.00158722442574799	0.00016	T	0.743326	0.36245	T	0.05297293	0.09956	0.057643637	0.10515	0.05297293	0.09955	0.057643637	0.10515	0.285	0.00262	T	.	.	0.065	0.01934	B	.;.	.;.	1.205394	0.15976	12.24	0.72003330123005893	0.09822	0.38842	0.26079	N	AEFBI	0.136454	0.25713	N	-1.08633205746721	0.06894	0.3186933	-0.971620459143605	0.10425	0.5250183	0.99894053499343	0.38034	0.638212	0.43195	0	0.573888	0.26702	0	0.547309	0.15389	0	0.668105	0.65232	0	.	.	5.97	3.34	0.37357	1.260000	0.32571	0.840000	0.22034	-0.117000	0.14459	0.583000	0.27610	0.060000	0.22018	0.222000	0.22517	0.4339:0.0:0.5661:0.0	6.207	0.19821	899	0.25060	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	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.008056	0.005051	0.005435	0.023392	0.000000	0.008621	0.003049	0.000000	0.02632	1307.33	34	chr4	166065758	.	G	A	1307.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.464;DP=747;ExcessHet=0;FS=1.573;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.99;ReadPosRankSum=1.63;SOR=0.519	GT:AD:DP:GQ:PL	0/1:54,55:109:99:1321,0,1223	18	0	1	0
chr4	168898668	168898668	T	C	exonic	PALLD	.	nonsynonymous SNV	PALLD:NM_001367567:exon4:c.T254C:p.M85T,PALLD:NM_001367569:exon4:c.T254C:p.M85T,PALLD:NM_001166110:exon5:c.T914C:p.M305T,PALLD:NM_001367568:exon5:c.T305C:p.M102T,PALLD:NM_001367570:exon5:c.T305C:p.M102T,PALLD:NM_001166109:exon12:c.T1229C:p.M410T,PALLD:NM_016081:exon13:c.T2375C:p.M792T,PALLD:NM_001166108:exon14:c.T2426C:p.M809T	.	.	.	.	.	.	.	.	.	.	.	4005620	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.279	0.0397687347451	.	.	8.24e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs781250247	2.07e-06	2.056e-06	4.124e-06	0	2.726e-06	5.5e-07	1.5e-07	7.3e-07	2e-07	0	0	0	0	0	0	2.726e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.486	0.12428	T	0.463	0.23707	T	.	.	.	.	.	.	0.001676	0.38326	U	0.000000	0.999968	0.81001	D	.	.	.	-0.55	0.71068	T	-2.21	0.72594	N	0.834	0.82964	-0.6935	0.60745	T	0.210	0.56933	T	10	0.30150113	0.47692	T	0.039769	0.58997	D	0.279	0.59619	.	.	0.641199583376	0.63823	0.5348204186873708	0.53407	0.808502915327	0.66620	0.717784404755	0.69723	T	0.08085	0.36460	T	0.141406	0.68459	D	-0.0346559	0.68059	D	0.576772583678845	0.35494	D	0.686731	0.31793	T	.	.	.	.	.	.	.	.	-8.267	0.67607	D	.	.	0.751	0.78309	P	.;.;.;.;.;.	.;.;.;.;.;.	4.050325	0.60035	24.2	0.84874175254793893	0.15549	0.97797	0.77204	D	AEFBI	0.776798	0.70979	D	0.146184386989402	0.48631	3.07305	0.269934385284283	0.53793	3.546451	0.99999999424337	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	6.167000	0.71757	6.181000	0.54632	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.742000	0.35507	0.0:0.0:0.0:1.0	15.690	0.77200	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	.	.	.	.	.	.	.	.	0.1053	247.47	34	chr4	168898668	.	T	C	247.47	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-2.592;DP=1085;ExcessHet=0.7564;FS=86.384;InbreedingCoeff=-0.1185;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=0.77;ReadPosRankSum=0.627;SOR=8.707	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:67,24:91:99:0|1:168898668_T_C:148,0,1657:168898668	15	0	4	0
chr4	168898669	168898669	G	C	exonic	PALLD	.	nonsynonymous SNV	PALLD:NM_001367567:exon4:c.G255C:p.M85I,PALLD:NM_001367569:exon4:c.G255C:p.M85I,PALLD:NM_001166110:exon5:c.G915C:p.M305I,PALLD:NM_001367568:exon5:c.G306C:p.M102I,PALLD:NM_001367570:exon5:c.G306C:p.M102I,PALLD:NM_001166109:exon12:c.G1230C:p.M410I,PALLD:NM_016081:exon13:c.G2376C:p.M792I,PALLD:NM_001166108:exon14:c.G2427C:p.M809I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.201	0.0303129994836	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.34275568	0.51301	T	0.030313	0.52653	D	0.201	0.48592	.	.	0.711221558017	0.70869	0.5074544262074023	0.50667	0.790969623184	0.65777	0.635476946831	0.57922	T	0.084931	0.37388	T	0.0964983	0.63912	D	-0.0991633	0.63462	T	0.555356498867889	0.34679	D	0.822018	0.50309	T	.	.	.	.	.	.	.	.	-9.058	0.70411	D	.	.	0.834	0.80161	P	.;.;.;.;.;.	.;.;.;.;.;.	4.012692	0.59210	24.1	0.96411370448329103	0.29723	0.98568	0.84190	D	AEFBI	0.911900	0.87180	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	.	.	.	.	.	.	.	.	0.02632	1481.95	34	chr4	168898669	.	G	C	1481.95	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.403;DP=1273;ExcessHet=2.9153;FS=130.099;InbreedingCoeff=-0.2258;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=2.62;ReadPosRankSum=0.622;SOR=10.1	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:67,24:91:99:0|1:168898668_T_C:148,0,1657:168898668	18	0	1	0
chr4	174977795	174977795	C	T	exonic	ADAM29	.	nonsynonymous SNV	ADAM29:NM_001278127:exon2:c.C2270T:p.S757F,ADAM29:NM_001130705:exon3:c.C2270T:p.S757F,ADAM29:NM_001130703:exon4:c.C2270T:p.S757F,ADAM29:NM_001130704:exon4:c.C2270T:p.S757F,ADAM29:NM_014269:exon5:c.C2270T:p.S757F,ADAM29:NM_001278125:exon6:c.C2270T:p.S757F,ADAM29:NM_001278126:exon6:c.C2270T:p.S757F	.	.	.	.	.	.	.	.	.	.	.	86261	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.050	0.00319089128695	0.0002	0.000998403	0.0003	0	8.669e-05	0	0	6.045e-05	0	0.0016	0.0002329	36	154602	rs199820660	0.0003	0.0003	0.0002	0.0004	0.0026	0.0003	0.0003	0.0023	0.0022	3.004e-05	0.0002	3.907e-05	0	0	0.0018	0.0001	0.0003	0.0026	0.0003	0.0003	0.0003	0.0003	0.0040	0.0003	0.0002	0.0026	0.0022	7.228e-05	0	0.0009	0	0	0	0	0.0002	0.0005	0.0040	0.001	0.78490	D	0.021	0.58089	D	0.939	0.52645	P	0.228	0.38116	B	.	.	.	.	0.925572	0.27189	N	0	0.06538	N	4.47	0.02084	T	-0.94	0.25118	N	0.188	0.21319	-0.8566	0.51505	T	0.004	0.01192	T	8	0.010384679	0.00231	T	0.003191	0.06996	T	0.050	0.13987	.	.	0.270889551736	0.26708	0.04944758459222851	0.04887	0.0814810227161	0.09168	0.276448369026	0.07002	T	0.004487	0.03897	T	-0.555266	0.00271	T	-0.663113	0.08058	T	0.032044793012035	0.02313	T	0.747925	0.36851	T	0.07300713	0.16283	0.096838266	0.23025	0.07300713	0.16283	0.096838266	0.23024	-8.535	0.64660	D	.	.	0.119	0.24294	B	.;.;.;.;.;.	.;.;.;.;.;.	1.047656	0.14288	10.86	0.91370450536929981	0.20635	0.05044	0.10831	N	AEFBI	0.038253	0.05385	N	-0.828306781309643	0.12590	0.6146466	-1.00121221971855	0.09758	0.4873878	5.42425899185962E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.537	0.537	0.16337	0.459000	0.21619	.	.	0.320000	0.19365	0.000000	0.06391	.	.	0.040000	0.14268	0.0:0.9999:0.0:1.0E-4	6.827	0.23070	960	0.08626	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	0.000000	0.000000	0.000000	0.006098	0.003788	0.02778	8352.71	34	chr4	174977795	.	C	T	8352.71	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-0.501;DP=1946;ExcessHet=0;FS=0.518;InbreedingCoeff=-0.0411;MLEAC=1;MLEAF=0.028;MQ=60;MQRankSum=-1.033;QD=11.78;ReadPosRankSum=-0.652;SOR=0.642	GT:AD:DP:GQ:PL	0/1:367,342:709:99:8366,0,9161	17	0	1	1
chr4	185247310	185247310	A	G	exonic	SNX25	.	nonsynonymous SNV	SNX25:NM_001378032:exon2:c.A446G:p.N149S,SNX25:NM_001378034:exon2:c.A446G:p.N149S,SNX25:NM_001378035:exon2:c.A446G:p.N149S,SNX25:NM_001378036:exon2:c.A446G:p.N149S,SNX25:NM_001378037:exon2:c.A446G:p.N149S,SNX25:NM_001378038:exon2:c.A446G:p.N149S,SNX25:NM_001378039:exon2:c.A446G:p.N149S,SNX25:NM_001378040:exon2:c.A446G:p.N149S	.	666	824	26	6	0	38	0.0225386	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0066	0.00978435	0.0098	0.0020	0.0026	0	0.0023	0.0077	0.0132	0.0360	0.0093466	1445	154602	rs74883877	0.0096	0.0098	0.0088	0.0105	0.0351	0.0095	0.0095	0.0340	0.0336	0.0013	0.0037	0.0039	0.0001	0.0025	0.0140	0.0090	0.0092	0.0351	0.0062	0.0062	0.0061	0.0064	0.0333	0.0059	0.0057	0.0290	0.0274	0.0014	0	0.0065	0.0026	0.0002	0.0031	0.0136	0.0082	0.0095	0.0333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.07895	2711.79	35	chr4	185247310	.	A	G	2711.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.159;DP=823;ExcessHet=0.3672;FS=0.497;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=10.93;ReadPosRankSum=0.006;SOR=0.756	GT:AD:DP:GQ:PL	0/1:46,30:76:99:831,0,1227	16	0	3	0
chr4	188139649	188139649	T	A	exonic	TRIML1	.	nonsynonymous SNV	TRIML1:NM_178556:exon1:c.T91A:p.C31S	.	430	1071	19	2	0	23	0.0106236	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.541	.	0.0083	0.00299521	0.0072	0.0024	0.0042	0	0.0035	0.0107	0.0078	0.0035	0.0072379	1119	154602	rs62618670	0.0097	0.0097	0.0097	0.0097	0.0113	0.0096	0.0095	0.0111	0.0111	0.0020	0.0053	0.0068	5.04e-05	0.0039	0.0109	0.0113	0.0089	0.0039	0.0075	0.0075	0.0081	0.0070	0.0120	0.0072	0.0070	0.0113	0.0110	0.0019	0.0263	0.0096	0.0072	0	0.0028	0.0102	0.0120	0.0052	0.0023	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000027	0.55875	D	0.000000	0.999839	0.49637	D	4.42	0.98718	H	0.57	0.54347	T	-9.34	0.98340	D	0.952	0.96072	0.257	0.86855	D	0.428	0.77055	T	10	0.018459052	0.00402	T	.	.	.	0.541	0.80842	0.96	0.99583	0.735379351521	0.73301	0.6699191004055212	0.66929	0.283721209908	0.30810	0.642670512199	0.58944	T	0.18462	0.53733	T	-0.311884	0.07584	T	-0.211381	0.53562	T	0.121879094384851	0.14612	T	0.979302	0.92791	D	0.9858612	0.99523	0.9732791	0.99600	0.9858612	0.99523	0.9732791	0.99600	-8.917	0.67161	D	.	.	0.924	0.84533	P	.	.	4.688179	0.75090	26.3	0.99441462626623878	0.64770	0.98736	0.86194	D	AEFI	0.876536	0.80060	D	1.02061756839301	0.96344	14.58287	0.923185732623559	0.96505	14.77977	0.999213322290424	0.38775	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.59	5.59	0.84677	7.131000	0.76850	3.822000	0.39956	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.0:0.0:1.0	14.037	0.64172	985	0.02828	Zinc finger, RING-type, conserved site|Zinc finger, RING-type|Zinc finger, RING-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	0.010574	0.005051	0.010870	0.005848	0.000000	0.008621	0.018293	0.007576	0.05263	2002.83	34	chr4	188139649	.	T	A	2002.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.46;DP=783;ExcessHet=0.119;FS=13.549;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.12;ReadPosRankSum=0.34;SOR=0.828	GT:AD:DP:GQ:PL	0/1:61,49:110:99:1277,0,1580	17	0	2	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	.	.	.	.	.	.	.	.	0.05263	309.83	35	chr5	236504	.	T	C	309.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.239;DP=880;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=57.72;MQRankSum=-9.12;QD=1.24;ReadPosRankSum=0.133;SOR=0.628	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:131,11:142:68:0|1:236502_G_T:68,0,5404:236502	17	0	2	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	.	.	.	.	.	.	.	.	0.05263	331.83	35	chr5	236513	.	C	T	331.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.826;DP=893;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=57.65;MQRankSum=-9.646;QD=1.29;ReadPosRankSum=1.79;SOR=0.682	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:132,13:145:99:0|1:236502_G_T:108,0,5379:236502	17	0	2	0
chr5	7862999	7862999	-	A	splicing	FASTKD3	NM_024091:exon4:c.1525-2->T	.	.	.	430	1067	24	1	0	26	0.012037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0070	0.00219649	0.0050	0.0019	0.0027	0	0.0011	0.0066	0.0066	0.0059	0.000207	32	154602	rs546325772	0.0072	0.0072	0.0072	0.0071	0.0116	0.0071	0.0070	0.0094	0.0086	0.0013	0.0029	0.0020	0	0.0027	0.0116	0.0082	0.0069	0.0066	0.0047	0.0047	0.0048	0.0046	0.0075	0.0044	0.0043	0.0070	0.0068	0.0013	0	0.0037	0.0020	0	0.0035	0.0272	0.0075	0.0076	0.0050	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	375.29	36	chr5	7862999	.	T	TA	375.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.39;DP=548;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.42;ReadPosRankSum=0.319;SOR=0.836	GT:AD:DP:GQ:PL	0/1:20,16:36:99:389,0,515	18	0	1	0
chr5	34850284	34850284	G	A	exonic	TTC23L	.	nonsynonymous SNV	TTC23L:NM_001317949:exon4:c.G382A:p.A128T,TTC23L:NM_144725:exon4:c.G355A:p.A119T	.	434	1081	7	0	0	7	0.00322729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.299	.	0.0003	0.0123802	0.0084	0.0014	0.0497	0.0444	0	0.0002	0.0078	0.0016	0.0079688	1232	154602	rs77793555	0.0027	0.0027	0.0029	0.0025	0.0430	0.0027	0.0026	0.0413	0.0406	0.0006	0.0423	7.655e-05	0.0430	0	0.0005	4.857e-05	0.0031	0.0016	0.0039	0.0039	0.0035	0.0043	0.0400	0.0036	0.0035	0.0355	0.0338	0.0014	0	0.0191	0	0.0400	0	0	0.0001	0.0038	0.0035	0.0	0.91255	D	0.014	0.62352	D	0.86	0.47373	P	0.536	0.48739	P	0.000038	0.55875	D	0.070469	0.882797	0.35786	D	3.04	0.86592	M	1.52	0.30669	T	-3.53	0.68532	D	0.861	0.85766	-0.8899	0.48943	T	0.036	0.15683	T	10	0.0057324767	0.00128	T	.	.	.	0.299	0.61955	.	.	0.543824025769	0.54036	0.4172097388865893	0.41636	0.472169439514	0.46456	0.482061594725	0.36341	T	0.266228	0.63816	T	-0.125548	0.32219	T	0.0826532	0.75756	D	0.0671150318669231	0.08240	T	0.838216	0.51127	T	0.6665062	0.76246	0.60619634	0.77105	0.6665062	0.76247	0.60619634	0.77106	-9.734	0.73431	D	.	.	0.727	0.75917	P	.;.;.;.	.;.;.;.	3.860427	0.55978	23.7	0.99918226172567981	0.98586	0.87105	0.46545	D	AEFBI	0.525241	0.54810	D	0.522463734321142	0.68419	5.214808	0.492345305884042	0.67483	5.089913	0.999998199985041	0.74766	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	4.84	4.84	0.62125	4.945000	0.63269	8.437000	0.77185	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.588000	0.31090	0.0:0.0:1.0:0.0	13.303	0.59775	702	0.57624	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1878.33	39	chr5	34850284	.	G	A	1878.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.122;DP=760;ExcessHet=0;FS=6.737;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.56;ReadPosRankSum=-0.812;SOR=1.189	GT:AD:DP:GQ:PL	0/1:55,74:129:99:1892,0,1362	18	0	1	0
chr5	35691145	35691145	C	T	exonic	SPEF2	.	nonsynonymous SNV	SPEF2:NM_024867:exon11:c.C1633T:p.P545S	.	436	1075	11	0	0	11	0.00509024	.	.	.	699073	not_provided|SPEF2-related_disorder|Spermatogenic_failure_43	MedGen:C3661900|.|MONDO:MONDO:0032898,MedGen:C5231490,OMIM:618751	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.143	0.0231360690899	0.0021	0.00139776	0.0018	0.0006	0.0011	0	0.0005	0.0023	0.0033	0.0022	0.0019146	296	154602	rs185000070	0.0023	0.0023	0.0024	0.0023	0.0027	0.0023	0.0023	0.0026	0.0025	0.0003	0.0013	0.0018	2.52e-05	0.0003	0.0024	0.0027	0.0021	0.0023	0.0015	0.0015	0.0016	0.0014	0.0035	0.0013	0.0013	0.0022	0.0019	0.0004	0	0.0014	0.0020	0	9.438e-05	0.0034	0.0023	0.0019	0.0035	0.009	0.59928	D	0.164	0.39645	T	1.0	0.90584	D	0.996	0.84481	D	0.000450	0.44317	D	0.194321	0.979541	0.39573	D	2.085	0.57729	M	3.02	0.08986	T	-5.04	0.82638	D	0.622	0.70702	-0.8658	0.50842	T	0.181	0.52752	T	10	0.016685545	0.00353	T	0.023136	0.46083	T	0.143	0.38195	.	.	0.672219426627	0.66944	0.4715939363711556	0.47078	0.230613910465	0.25609	0.344848781824	0.17160	T	0.227424	0.77442	T	-0.327884	0.06272	T	-0.242531	0.50551	T	0.0433996387942982	0.04311	T	0.818018	0.47523	T	0.22759393	0.45463	0.25933942	0.51681	0.22759393	0.45463	0.25933942	0.51680	-7.664	0.58757	D	.	.	0.155	0.40376	B	.;.;.;.	.;.;.;.	3.297776	0.45254	22.1	0.99832449593896788	0.91370	0.92019	0.54766	D	AEFGI	0.404398	0.47770	N	0.502469502213988	0.67234	5.054756	0.464341048770069	0.65643	4.849762	0.814221621546544	0.24410	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.6	4.68	0.58319	5.146000	0.64688	3.218000	0.36838	0.549000	0.26987	1.000000	0.71638	0.997000	0.33255	0.215000	0.22324	0.1577:0.8423:0.0:0.0	13.327	0.59902	594	0.68584	.;.;.;.	.	.	.	.	.	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	0.000504	0.000000	0.004076	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2604.33	34	chr5	35691145	.	C	T	2604.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.795;DP=831;ExcessHet=0;FS=2.366;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.58;ReadPosRankSum=-0.941;SOR=0.86	GT:AD:DP:GQ:PL	0/1:97,110:207:99:2618,0,2320	18	0	1	0
chr5	38482181	38482181	C	T	exonic	LIFR	.	nonsynonymous SNV	LIFR:NM_001127671:exon20:c.G2708A:p.C903Y,LIFR:NM_001364297:exon20:c.G2708A:p.C903Y,LIFR:NM_001364298:exon20:c.G2675A:p.C892Y,LIFR:NM_002310:exon20:c.G2708A:p.C903Y	Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.389	0.0265810954048	.	.	8.562e-06	0	0	0.0001	0	0	0	0	6.5e-06	1	154602	rs756149177	4.155e-06	4.788e-06	2.755e-06	5.572e-06	1.219e-05	1.49e-06	9.8e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.515e-06	0	1.219e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.000001	0.62929	D	0.100692	0.999996	0.58761	D	2.65	0.77586	M	0.16	0.60610	T	-6.64	0.92217	D	0.786	0.85766	-0.3470	0.73640	T	0.410	0.75880	T	10	0.8248005	0.81665	D	0.026581	0.49475	D	0.389	0.70521	0.419	0.46036	0.88182228603	0.88066	0.5133420254266727	0.51256	0.607286170727	0.55543	0.828346729279	0.86309	D	0.80582	0.95095	D	0.327837	0.85017	D	0.233139	0.84822	D	0.987414419651031	0.77915	D	0.868313	0.57032	D	0.780658	0.82694	0.9095176	0.95654	0.780658	0.82695	0.9095176	0.95655	-5.367	0.40601	T	.	.	0.953	0.87923	P	.;.	.;.	4.635948	0.73751	26.0	0.99772268669393238	0.86003	0.95363	0.64428	D	AEFBI	0.833369	0.75159	D	0.811693039180845	0.86831	9.013729	0.811418696545393	0.90578	10.47045	0.999999996109345	0.74766	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.683762	0.67416	0	.	.	6.06	6.06	0.98340	5.187000	0.64925	7.683000	0.65396	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	20.640	0.99540	465	0.78421	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	581.33	37	chr5	38482181	.	C	T	581.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.879;DP=698;ExcessHet=0;FS=2.174;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.75;ReadPosRankSum=0.379;SOR=1.051	GT:AD:DP:GQ:PL	0/1:49,26:75:99:595,0,1361	18	0	1	0
chr5	52893732	52893732	A	C	exonic	ITGA1	.	nonsynonymous SNV	ITGA1:NM_181501:exon9:c.A982C:p.K328Q	.	438	1053	29	2	0	33	0.0154278	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.277	.	0.0014	0.00159744	0.0033	0.0002	0.0007	0.0002	0	0.0022	0.0033	0.0147	0.002859	442	154602	rs150009527	0.0020	0.0020	0.0015	0.0025	0.0149	0.0019	0.0019	0.0142	0.0139	0.0001	0.0004	0.0292	2.524e-05	0	0.0066	0.0005	0.0035	0.0149	0.0015	0.0015	0.0013	0.0017	0.0114	0.0013	0.0013	0.0090	0.0081	0.0003	0	0.0005	0.0291	0.0004	0	0	0.0006	0.0028	0.0114	0.086	0.32610	T	0.213	0.26467	T	0.116	0.26475	B	0.167	0.35118	B	0.000071	0.52346	D	0.168708	0.997134	0.43655	D	0.845	0.21182	L	-1.72	0.83241	D	-2.82	0.59545	D	0.186	0.20262	-0.4076	0.71787	T	0.403	0.75388	T	10	0.008489013	0.00192	T	.	.	.	0.277	0.59375	.	.	0.814982974235	0.81323	0.7904183510822229	0.78993	0.181561313923	0.20410	0.363239347935	0.19856	T	0.493714	0.81715	T	-0.419428	0.01725	T	-0.362282	0.37787	T	0.0276256007752138	0.01633	T	0.889211	0.62120	D	0.71762663	0.79030	0.43571326	0.67048	0.71762663	0.79031	0.43571326	0.67048	-9.296	0.69582	D	.	.	0.121	0.25034	B	.	.	3.379304	0.46730	22.3	0.98850089377460615	0.47271	0.88584	0.48580	D	AEBI	0.654059	0.62687	D	-0.108549905968052	0.37020	2.147875	0.052388413383367	0.42188	2.547394	0.999813034824553	0.43459	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.550183	0.17644	0	.	.	5.7	4.53	0.55009	2.859000	0.48063	6.987000	0.57147	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.866:0.134:0.0:0.0	13.075	0.58496	715	0.56137	von Willebrand factor, type A|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	0.006042	0.000000	0.002717	0.014620	0.000000	0.008621	0.009146	0.007576	0.05263	2956.83	35	chr5	52893732	.	A	C	2956.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.756;DP=821;ExcessHet=0.119;FS=7.683;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.63;ReadPosRankSum=0.721;SOR=1.143	GT:AD:DP:GQ:PL	0/1:42,51:93:99:1251,0,958	17	0	2	0
chr5	56116745	56116745	C	T	exonic	ANKRD55	.	nonsynonymous SNV	ANKRD55:NM_024669:exon9:c.G835A:p.E279K	.	424	1087	10	1	0	12	0.00548948	.	.	.	709950	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.160	.	0.0080	0.00359425	0.0081	0.0020	0.0025	0	0.0171	0.0118	0.0115	0.0012	0.0077813	1203	154602	rs146546015	0.0091	0.0091	0.0093	0.0090	0.0093	0.0090	0.0089	0.0092	0.0091	0.0011	0.0035	0.0410	0.0003	0.0178	0.0081	0.0093	0.0091	0.0013	0.0081	0.0081	0.0080	0.0083	0.0097	0.0078	0.0076	0.0090	0.0088	0.0017	0.0252	0.0092	0.0357	0.0002	0.0194	0.0034	0.0097	0.0052	0.0012	0.089	0.32141	T	0.073	0.53426	T	.	.	.	.	.	.	0.015565	0.28211	N	0.313144	0.99937	0.81001	D	.	.	.	-0.36	0.68754	T	-1.05	0.46146	N	0.32	0.43320	-0.6756	0.61575	T	0.161	0.49681	T	10	0.008954018	0.00203	T	.	.	.	0.160	0.41473	.	.	0.589992848803	0.58675	0.4629190109213392	0.46210	0.434977982388	0.43618	0.545623660088	0.45239	T	0.009687	0.24696	T	-0.497162	0.00593	T	-0.479096	0.24542	T	0.017381052349783	0.00476	T	0.914708	0.70062	D	0.15990183	0.35894	0.14499782	0.34405	0.15990183	0.35894	0.14499782	0.34404	-11.124	0.80333	D	.	.	0.106	0.31633	B	.;.	.;.	3.980393	0.58511	24.0	0.99930859821828233	0.99334	0.87164	0.46621	D	ALL	0.739614	0.68411	D	0.297304085304292	0.56011	3.765373	0.400912653038582	0.61621	4.364883	1.0	0.98316	0.487112	0.14033	0	0.573888	0.26702	0	0.48864	0.07692	0	0.52698	0.09003	0	.	.	5.3	5.3	0.74745	5.008000	0.63746	4.736000	0.44580	0.593000	0.32247	1.000000	0.71638	1.000000	0.68203	0.689000	0.33808	0.0:1.0:0.0:0.0	19.003	0.92820	305	0.87738	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin 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	0	0	1	0	0.007553	0.015152	0.002717	0.011696	0.100000	0.000000	0.006098	0.000000	0.02632	787.33	33	chr5	56116745	.	C	T	787.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.977;DP=684;ExcessHet=0;FS=4.129;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.32;ReadPosRankSum=1.42;SOR=0.293	GT:AD:DP:GQ:PL	0/1:25,30:55:99:801,0,597	18	0	1	0
chr5	75411057	75411057	A	G	exonic	CERT1	.	nonsynonymous SNV	CERT1:NM_001379002:exon8:c.T884C:p.M295T,CERT1:NM_001379003:exon8:c.T884C:p.M295T,CERT1:NM_001379004:exon8:c.T884C:p.M295T,CERT1:NM_001379029:exon8:c.T884C:p.M295T,CERT1:NM_005713:exon8:c.T884C:p.M295T,CERT1:NM_031361:exon8:c.T884C:p.M295T,CERT1:NM_001130105:exon9:c.T1268C:p.M423T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.00499293406795	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.286	0.15251	T	0.178	0.30241	T	0.007	0.14184	B	0.019	0.18783	B	0.004661	0.33526	N	0.395003	0.828493	0.41274	D	1.04	0.26193	L	1.6	0.28604	T	-1.91	0.44471	N	0.296	0.33469	-1.0506	0.14230	T	0.044	0.19029	T	10	0.099120736	0.17965	T	0.004993	0.12598	T	0.071	0.20720	0.413	0.45052	0.20808081866	0.20439	0.42728429719511846	0.42645	.	.	0.301730394363	0.10659	T	0.213999	0.57547	T	-0.213894	0.18833	T	-0.545021	0.17806	T	0.102586974231744	0.12639	T	0.737426	0.37107	T	0.032099485	0.03173	0.062276185	0.12159	0.032099485	0.03173	0.062276185	0.12159	-6.103	0.50900	T	.	.	0.197	0.50581	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	1.273134	0.16720	12.72	0.2447876853878784	0.01084	0.93188	0.57555	D	AEFBI	0.283412	0.39652	N	-0.843963659697295	0.12198	0.5931782	-0.712274010402498	0.16655	0.8821025	0.0247812039370803	0.13603	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.82	1.95	0.25130	4.276000	0.58729	4.437000	0.43372	-0.757000	0.03535	0.999000	0.42656	0.999000	0.35428	0.054000	0.15518	0.6956:0.1226:0.0648:0.1171	4.900	0.13126	920	0.19381	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	583.33	34	chr5	75411057	.	A	G	583.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.54;DP=685;ExcessHet=0;FS=0.879;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.1;ReadPosRankSum=1.92;SOR=0.818	GT:AD:DP:GQ:PL	0/1:40,32:72:99:597,0,839	18	0	1	0
chr5	76403579	76403579	C	A	exonic	IQGAP2	.	nonsynonymous SNV	IQGAP2:NM_006633:exon1:c.C34A:p.P12T	.	.	.	.	.	.	.	.	.	.	.	735192	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.108	.	.	0.000998403	0.0012	0	0	0.0257	0	0	0	0	0.0003299	51	154602	rs569312379	0.0001	0.0001	0.0001	0.0001	0.0042	0.0001	9.684e-05	0.0037	0.0034	0	0	0	0.0042	0	0	6.469e-06	0.0002	3.827e-05	0.0003	0.0003	0.0002	0.0005	0.0101	0.0003	0.0002	0.0079	0.0072	0	0	0	0	0.0101	0	0	0	0	0	0.006	0.61437	D	0.094	0.39645	T	0.06	0.23119	B	0.034	0.22546	B	0.000006	0.62929	U	0.000000	0.967767	0.81001	D	2	0.54354	M	4.33	0.02363	T	-2.59	0.55821	D	0.313	0.35301	-0.8780	0.49919	T	0.008	0.02760	T	10	0.006500095	0.00147	T	.	.	.	0.108	0.30607	0.353	0.35246	0.406806705197	0.40296	0.525331418535256	0.52457	0.212166500798	0.23708	0.888910412788	0.95124	D	0.298828	0.67137	T	-0.45182	0.01102	T	-0.40946	0.32288	T	0.234635509651467	0.22170	T	0.858514	0.54939	D	0.45926538	0.64624	0.45106348	0.68059	0.45926538	0.64625	0.45106348	0.68060	-3.643	0.18481	T	.	.	0.39	0.59011	A	.	.	4.403315	0.68060	25.2	0.98912264444585785	0.48399	0.72952	0.35692	D	AEFDGBCIJ	0.272972	0.38848	N	-0.203284253288959	0.32998	1.867289	-0.0750330774943976	0.36427	2.119678	0.999999997023338	0.74766	0.441713	0.08003	0	0.484254	0.07192	0	0.52208	0.10781	0	0.554799	0.18163	0	.	.	3.28	3.28	0.36691	3.453000	0.52743	7.340000	0.58244	0.467000	0.21759	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:1.0:0.0:0.0	10.761	0.45461	928	0.17405	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	675.33	37	chr5	76403579	.	C	A	675.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.17;DP=671;ExcessHet=0;FS=2.339;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.51;ReadPosRankSum=1.18;SOR=1.143	GT:AD:DP:GQ:PL	0/1:24,30:54:99:689,0,528	18	0	1	0
chr5	76683907	76683907	C	T	exonic	IQGAP2	.	nonsynonymous SNV	IQGAP2:NM_001285461:exon18:c.C2383T:p.L795F,IQGAP2:NM_001285462:exon18:c.C2383T:p.L795F,IQGAP2:NM_001285460:exon29:c.C3745T:p.L1249F,IQGAP2:NM_006633:exon30:c.C3895T:p.L1299F	.	426	1095	1	0	0	1	0.000456413	.	.	.	3455235	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.409	0.0848550877045	.	0.000199681	0.0002	0	0	0.0018	0	3.045e-05	0	0.0001	0.0001294	20	154602	rs147002427	1.99e-05	2.052e-05	1.774e-05	2.208e-05	0.0005	1.396e-05	1.207e-05	0.0003	0.0003	0	0	0	0.0005	0	0.0002	1.802e-06	1.66e-05	7.041e-05	3.94e-05	3.937e-05	2.57e-05	5.373e-05	0.0004	1.715e-05	1.129e-05	7.285e-05	3.027e-05	0	0	0	0	0.0004	0	0	2.94e-05	0	0.0004	0.003	0.72154	D	0.004	0.74150	D	0.995	0.67487	D	0.948	0.68536	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.635	0.94052	H	0.55	0.54728	T	-3.44	0.69118	D	0.781	0.77789	-0.1508	0.78896	T	0.382	0.73870	T	10	0.2503633	0.42361	T	0.084855	0.74413	D	0.409	0.72099	.	.	0.69078259148	0.68812	0.6473159303629634	0.64666	0.73479778726	0.62922	0.525489330292	0.42399	T	0.718274	0.92018	D	-0.0068961	0.50700	T	0.166877	0.81222	D	0.576696463267939	0.35491	D	0.922308	0.84427	D	0.53025824	0.68845	0.46354803	0.68859	0.53025824	0.68846	0.46354803	0.68859	-8.821	0.67077	D	.	.	0.265	0.50481	B	.;.;.;.;.	.;.;.;.;.	4.160117	0.62465	24.5	0.99898530653622264	0.97124	0.92658	0.56232	D	AEFBI	0.791635	0.72017	D	0.75116851948602	0.82979	7.899014	0.692374246618893	0.81797	7.611964	0.999999995179738	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.620204	0.46100	0	.	.	5.56	5.56	0.83678	3.201000	0.50761	7.591000	0.61250	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.943000	0.48514	0.0:0.8781:0.0:0.1219	12.345	0.54442	860	0.33753	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	918.33	37	chr5	76683907	.	C	T	918.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.368;DP=716;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.44;ReadPosRankSum=-0.801;SOR=0.758	GT:AD:DP:GQ:PL	0/1:48,40:88:99:932,0,1135	18	0	1	0
chr5	76695595	76695595	C	T	exonic	IQGAP2	.	nonsynonymous SNV	IQGAP2:NM_001285461:exon20:c.C2623T:p.R875W,IQGAP2:NM_001285462:exon20:c.C2623T:p.R875W,IQGAP2:NM_001285460:exon31:c.C3985T:p.R1329W,IQGAP2:NM_006633:exon32:c.C4135T:p.R1379W	.	424	1089	9	0	0	9	0.00411523	.	.	.	710011	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.355	.	0.0003	0.0123802	0.0076	0	0.0335	0.0354	0.0002	0.0003	0.0033	0.0122	0.0072832	1126	154602	rs17681908	0.0031	0.0031	0.0029	0.0032	0.0350	0.0030	0.0030	0.0335	0.0329	0.0004	0.0336	0	0.0350	5.616e-05	0.0021	0.0001	0.0027	0.0145	0.0057	0.0057	0.0043	0.0071	0.0379	0.0053	0.0052	0.0353	0.0343	0.0004	0	0.0379	0	0.0319	9.42e-05	0	0.0002	0.0033	0.0168	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.987	0.77487	D	0.000002	0.62929	D	0.060004	1	0.81001	D	2.655	0.77738	M	0.87	0.46412	T	-5.67	0.87380	D	0.805	0.82964	-0.6236	0.63839	T	0.123	0.42526	T	10	0.008675218	0.00196	T	.	.	.	0.355	0.67600	.	.	0.687758792822	0.68508	0.5823517913760989	0.58164	0.70618830283	0.61436	0.684661030769	0.64938	T	0.421561	0.77292	T	-0.20517	0.20062	T	-0.041726	0.67585	D	0.0596457868355701	0.07112	T	0.988514	0.96773	D	0.8682599	0.88725	0.81556636	0.89255	0.8682599	0.88726	0.81556636	0.89256	-8.362	0.63898	D	.	.	0.360	0.57236	A	.;.;.;.;.	.;.;.;.;.	4.114174	0.61441	24.3	0.99920154667984706	0.98721	0.93183	0.57542	D	AEFDBI	0.891379	0.82728	D	0.539732885805594	0.69459	5.359916	0.45730332659362	0.65190	4.792264	0.9999999816118	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.678554	0.66404	0	.	.	5.7	4.81	0.61401	2.514000	0.45164	1.798000	0.28858	0.530000	0.24713	0.979000	0.35152	0.923000	0.28366	0.934000	0.47231	0.1369:0.8631:0.0:0.0	15.849	0.78694	844	0.36711	RasGAP protein, C-terminal;RasGAP protein, C-terminal;RasGAP protein, 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	0	0	1	0	0.002014	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.011364	0.02632	1042.33	34	chr5	76695595	.	C	T	1042.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.78;DP=725;ExcessHet=0;FS=3.876;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.97;ReadPosRankSum=0.54;SOR=0.93	GT:AD:DP:GQ:PL	0/1:53,42:95:99:1056,0,1264	18	0	1	0
chr5	78509910	78509910	T	C	exonic	LHFPL2	.	nonsynonymous SNV	LHFPL2:NM_005779:exon4:c.A304G:p.I102V	.	432	1086	4	0	0	4	0.00183824	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.284	.	7.7e-05	0.00738818	0.0025	0.0002	0	0.0296	0.0008	0.0003	0.0011	0.0010	0.0023997	371	154602	rs2303654	0.0007	0.0007	0.0008	0.0007	0.0179	0.0007	0.0007	0.0168	0.0163	0.0002	0.0001	0	0.0179	0.0003	0.0003	5.036e-05	0.0028	0.0014	0.0013	0.0013	0.0010	0.0015	0.0314	0.0011	0.0011	0.0274	0.0259	0.0002	0	0.0001	0	0.0314	0	0	0.0001	0.0014	0.0021	0.338	0.12796	T	0.54	0.09760	T	0.689	0.41609	P	0.265	0.39681	B	0.000006	0.62929	D	0.125933	0.999989	0.54805	D	1.715	0.44382	L	-0.58	0.71425	T	-0.44	0.14588	N	0.58	0.60156	-0.7883	0.55828	T	0.120	0.41886	T	10	0.011547178	0.00252	T	.	.	.	0.284	0.60219	.	.	0.372993862945	0.36913	0.6839381374284791	0.68332	0.501433170263	0.48525	0.432927846909	0.29608	T	0.211738	0.57259	T	-0.36717	0.03740	T	-0.271623	0.47654	T	0.037961902614895	0.03325	T	0.816718	0.47282	T	0.10682148	0.25259	0.15999761	0.37287	0.10682148	0.25258	0.15999761	0.37286	-3.177	0.12202	T	.	.	0.089	0.12276	B	.;.	.;.	2.684960	0.35034	19.79	0.9374019207943286	0.23675	0.85897	0.45084	D	AEFDBCI	0.331751	0.43137	N	-0.125228829034082	0.36295	2.09611	-0.0472881749789216	0.37609	2.20429	0.999998652824893	0.74766	0.542737	0.22433	0	0.685571	0.66316	0	0.26897	0.05253	2	0.662433	0.64102	0	.	.	5.52	5.52	0.82153	3.083000	0.49833	6.209000	0.54989	0.665000	0.62972	0.999000	0.42656	1.000000	0.68203	0.711000	0.34484	0.0:0.0:0.0:1.0	14.820	0.69694	634	0.64659	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	2292.83	38	chr5	78509910	.	T	C	2292.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.178;DP=757;ExcessHet=0.119;FS=2.915;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.79;ReadPosRankSum=1.35;SOR=0.488	GT:AD:DP:GQ:PL	0/1:28,48:76:99:1150,0,646	17	0	2	0
chr5	79732321	79732321	C	A	exonic	CMYA5	.	nonsynonymous SNV	CMYA5:NM_153610:exon2:c.C3556A:p.P1186T	.	431	1089	2	0	0	2	0.000917431	.	.	.	3305193	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.095	0.0244767953316	8.2e-05	0.000199681	0.0002	0	0	0.0009	0	1.512e-05	0	0.0009	0.0001746	27	154602	rs374881012	8.006e-05	8.003e-05	5.991e-05	0.0001	0.0010	6.802e-05	6.356e-05	0.0007	0.0007	0	0	0	0.0010	0	0	1.259e-05	6.627e-05	0.0007	6.567e-05	6.561e-05	3.855e-05	9.402e-05	0.0012	3.515e-05	2.615e-05	0.0005	0.0004	0	0	0	0	0.0006	0	0	1.47e-05	0	0.0012	0.003	0.68238	D	0.101	0.38596	T	0.055	0.22733	B	0.018	0.18489	B	0.361865	0.13658	N	0.669710	1	0.08975	N	2.175	0.60977	M	-0.31	0.68030	T	-3.23	0.65056	D	0.061	0.03283	-0.8824	0.49569	T	0.227	0.59196	T	10	0.012020856	0.00260	T	0.024477	0.47468	T	0.095	0.27398	.	.	0.360961692134	0.35713	0.21919059478006736	0.21835	0.0849377643601	0.09603	0.254370868206	0.04243	T	0.027822	0.20292	T	-0.437571	0.01336	T	-0.47543	0.24933	T	0.0641904001571184	0.07811	T	0.587941	0.21519	T	0.13908409	0.32142	0.18832499	0.42116	0.13908409	0.32142	0.18832499	0.42115	-4.584	0.31970	T	.	.	0.117	0.23709	B	.	.	2.128461	0.27094	17.35	0.87087231482658645	0.16979	0.04870	0.10609	N	AEFBI	0.049154	0.08462	N	-0.580091651859231	0.19550	1.024068	-0.561494676148193	0.20501	1.10482	0.511507899347391	0.21022	0.549168	0.22868	0	0.573888	0.26702	0	0.573888	0.23631	0	0.616125	0.45549	0	.	.	5.81	3.02	0.33970	-0.046000	0.11937	1.937000	0.29806	0.599000	0.40250	0.001000	0.13787	0.918000	0.28264	0.614000	0.31742	0.3458:0.3465:0.3077:0.0	9.503	0.38196	419	0.81524	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	2206.33	92	chr5	79732321	.	C	A	2206.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.953;DP=1400;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.54;ReadPosRankSum=-0.723;SOR=0.727	GT:AD:DP:GQ:PL	0/1:75,88:163:99:2220,0,1927	18	0	1	0
chr5	79737121	79737121	T	C	exonic	CMYA5	.	nonsynonymous SNV	CMYA5:NM_153610:exon2:c.T8356C:p.F2786L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.00429156060246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.027e-05	0.0012	1.322e-05	7.332e-06	6.329e-05	5.96e-06	4.66e-06	1.048e-05	4.22e-06	6.329e-05	0	0	0	0	0	1.076e-05	0	1.189e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	0.30515	T	0.535	0.09931	T	0.307	0.32716	B	0.06	0.26717	B	0.477143	0.12208	N	0.730444	1	0.08975	N	0.55	0.14455	N	1.34	0.34841	T	-0.47	0.15178	N	0.068	0.04072	-1.0516	0.13954	T	0.048	0.20553	T	10	0.045761734	0.03686	T	0.004292	0.10404	T	0.022	0.04323	0.101	0.01536	0.0611884634855	0.05136	0.02498130375506089	0.02449	0.0683822844331	0.07654	0.305985629559	0.11300	T	0.019747	0.15676	T	-0.330161	0.06099	T	-0.71203	0.05191	T	0.0498282739417066	0.05471	T	0.564244	0.19889	T	0.05796542	0.11602	0.06227273	0.12156	0.05796542	0.11601	0.06227273	0.12155	-3.668	0.18847	T	.	.	0.511	0.65065	A	.	.	0.546264	0.09146	5.931	0.91598307684938896	0.20881	0.01020	0.03837	N	AEFBI	0.024890	0.01614	N	-0.86627449370109	0.11652	0.56346	-0.947118491995255	0.10990	0.5571424	0.997221251754495	0.35393	0.553676	0.25195	0	0.610034	0.51514	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	4.75	-1.25	0.08920	0.156000	0.16200	0.233000	0.16214	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.174000	0.21107	0.0:0.3042:0.3133:0.3826	4.559	0.11546	419	0.81524	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1176	66.34	86	chr5	79737121	.	T	C	66.34	.	AC=4;AF=0.118;AN=34;BaseQRankSum=-3.622;DP=1483;ExcessHet=0.7564;FS=179.988;InbreedingCoeff=-0.1331;MLEAC=3;MLEAF=0.088;MQ=60;MQRankSum=0;QD=0.17;ReadPosRankSum=0.685;SOR=9.967	GT:AD:DP:GQ:PL	0/1:71,22:93:18:18,0,1664	13	0	4	2
chr5	90689978	90689978	T	C	exonic	ADGRV1	.	nonsynonymous SNV	ADGRV1:NM_032119:exon30:c.T6608C:p.V2203A	Usher syndrome, type 2C, Autosomal recessive, Digenic dominant;Usher syndrome, type 2C, GPR98/PDZD7 digenic, Autosomal recessive, Digenic dominant	0	1470	51	1	0	53	0.017708	.	.	YES	55519	Usher_syndrome_type_2C|not_provided|not_specified	MONDO:MONDO:0011558,MedGen:C2931213,OMIM:605472,Orphanet:231178,Orphanet:886|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.355	.	0.0018	0.00239617	0.0034	0.0001	0.0009	0	0.0004	0.0032	0.0091	0.0098	0.0023544	364	154602	rs200055351	0.0022	0.0022	0.0019	0.0024	0.0184	0.0021	0.0021	0.0156	0.0145	0.0004	0.0008	0.0073	0	0.0010	0.0184	0.0016	0.0038	0.0090	0.0016	0.0016	0.0015	0.0017	0.0106	0.0014	0.0014	0.0083	0.0074	0.0003	0	0.0007	0.0095	0	0.0004	0.0272	0.0018	0.0038	0.0106	0.002	0.72154	D	0.004	0.74150	D	0.194	0.29493	B	0.249	0.38982	B	0.000861	0.41440	D	0.246545	0.999658	0.48079	D	.	.	.	1.13	0.38556	T	-3.38	0.66780	D	0.761	0.75927	-0.7245	0.59239	T	0.190	0.54198	T	10	0.009311885	0.00210	T	.	.	.	0.355	0.67600	.	.	0.706577926717	0.70402	0.6962042043904647	0.69561	0.0558218804441	0.06170	0.449944078922	0.31936	T	0.182942	0.53512	T	-0.328345	0.06238	T	-0.238307	0.50964	T	0.0525185356157373	0.05937	T	0.729427	0.34485	T	0.4285325	0.62656	0.5772997	0.75507	0.5112676	0.67754	0.55358535	0.74184	-10.066	0.74306	D	.	.	0.798	0.78051	P	.;.;.	.;.;.	3.371981	0.46602	22.3	0.99857624987460625	0.93639	0.99105	0.91299	D	AEFBI	0.896823	0.83830	D	0.37838958595883	0.60253	4.212213	0.467032345042676	0.65816	4.872094	0.999999999999443	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.670488	0.60580	0	0.564101	0.26826	0	.	.	5.36	5.36	0.76624	7.742000	0.83928	7.899000	0.73451	0.660000	0.55035	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.0:1.0	15.384	0.74403	605	0.67457	.;.;Na-Ca exchanger/integrin-beta4|Na-Ca exchanger/integrin-beta4	.	.	.	.	.	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	0.014661	0.010204	0.014946	0.032353	0.000000	0.025862	0.006135	0.007576	0.02632	1676.33	33	chr5	90689978	.	T	C	1676.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.682;DP=752;ExcessHet=0;FS=3.241;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.89;ReadPosRankSum=1.5;SOR=1.026	GT:AD:DP:GQ:PL	0/1:57,73:130:99:1690,0,1228	18	0	1	0
chr5	119150083	119150083	G	-	exonic	DMXL1	.	frameshift deletion	DMXL1:NM_001290321:exon18:c.4256delG:p.C1419Ffs*14,DMXL1:NM_001290322:exon18:c.3737delG:p.C1246Ffs*14,DMXL1:NM_005509:exon18:c.4256delG:p.C1419Ffs*14,DMXL1:NM_001349239:exon19:c.4256delG:p.C1419Ffs*14,DMXL1:NM_001349240:exon19:c.4256delG:p.C1419Ffs*14	.	418	1099	5	0	0	5	0.00226963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	.	0.0002	0	0	0	0	0.0003	0	0.0002	.	.	.	rs763455805	0.0003	0.0003	0.0003	0.0003	0.0052	0.0003	0.0003	0.0037	0.0033	0.0001	8.95e-05	0.0021	2.519e-05	7.503e-05	0.0052	0.0002	0.0005	0.0005	0.0003	0.0003	0.0003	0.0003	0.0006	0.0002	0.0002	0.0003	0.0003	4.808e-05	0	0.0003	0.0017	0	0	0.0068	0.0004	0.0005	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	3158.29	36	chr5	119150082	.	TG	T	3158.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.713;DP=879;ExcessHet=0;FS=4.905;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=20.78;ReadPosRankSum=-2.426;SOR=1.13	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:69,83:152:99:0|1:119150082_TG_T:3172,0,2641:119150082	18	0	1	0
chr5	119150085	119150089	TACTC	-	exonic	DMXL1	.	frameshift deletion	DMXL1:NM_001290321:exon18:c.4258_4262del:p.Y1420Ifs*6,DMXL1:NM_001290322:exon18:c.3739_3743del:p.Y1247Ifs*6,DMXL1:NM_005509:exon18:c.4258_4262del:p.Y1420Ifs*6,DMXL1:NM_001349239:exon19:c.4258_4262del:p.Y1420Ifs*6,DMXL1:NM_001349240:exon19:c.4258_4262del:p.Y1420Ifs*6	.	418	1099	5	0	0	5	0.00226963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	.	0.0002	0	0	0	0	0.0003	0	0.0002	3.84e-05	1	26028	rs773838922	0.0003	0.0003	0.0003	0.0003	0.0052	0.0003	0.0003	0.0037	0.0033	0.0001	8.95e-05	0.0021	2.519e-05	7.504e-05	0.0052	0.0002	0.0005	0.0005	0.0003	0.0003	0.0003	0.0003	0.0006	0.0002	0.0002	0.0003	0.0003	4.811e-05	0	0.0003	0.0017	0	0	0.0068	0.0004	0.0005	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	3143.29	36	chr5	119150084	.	TTACTC	T	3143.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.001;DP=884;ExcessHet=0;FS=4.784;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=20.02;ReadPosRankSum=-2.476;SOR=1.102	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:74,83:157:99:0|1:119150082_TG_T:3157,0,2799:119150082	18	0	1	0
chr5	123090204	123090204	C	G	exonic	PRDM6	.	nonsynonymous SNV	PRDM6:NM_001136239:exon2:c.C190G:p.P64A	Patent ductus arteriosus 3, Autosomal dominant	179	1335	8	0	0	8	0.0029873	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.208553936255	.	0.000399361	0.0024	0.0094	0	0	0	0.0020	0.0094	0.0024	0.0003363	52	154602	rs113582737	0.0033	0.0030	0.0033	0.0032	0.0046	0.0032	0.0032	0.0034	0.0034	0.0005	0.0022	4.32e-05	0	0.0042	0.0046	0.0035	0.0029	0.0034	0.0021	0.0021	0.0020	0.0022	0.0030	0.0019	0.0018	0.0026	0.0025	0.0004	0	0.0028	0	0.0004	0.0036	0	0.0030	0.0024	0.0025	0.251	0.17069	T	0.355	0.17217	T	0.484	0.36838	P	0.239	0.38566	B	.	.	.	.	0.993271	0.41889	D	0.55	0.14455	N	3.11	0.08194	T	-0.43	0.14390	N	0.189	0.20660	-1.0097	0.27012	T	0.012	0.04510	T	9	0.0049643815	0.00106	T	0.208554	0.87152	D	0.058	0.16647	.	.	0.193865811164	0.18958	0.32023750187045075	0.31936	.	.	0.84181034565	0.88370	D	0.00239	0.01788	T	-0.560964	0.00250	T	-0.580352	0.14513	T	0.0362440496709815	0.03023	T	0.452755	0.12846	T	0.09035101	0.21138	0.19891179	0.43747	0.081304766	0.18673	0.20447454	0.44572	-4.118	0.25555	T	.	.	0.077	0.06387	B	.	.	1.759070	0.22376	15.59	0.84479274333507726	0.15316	0.57535	0.30402	D	AEFDBHCIJ	0.187000	0.31430	N	-0.62895832295392	0.18078	0.9356925	-0.569129063314719	0.20299	1.093069	0.999999999999974	0.74766	0.437478	0.07067	0	0.475579	0.06741	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	3.26	3.26	0.36471	2.602000	0.45921	2.188000	0.31185	0.397000	0.20528	0.794000	0.29644	1.000000	0.68203	0.098000	0.18187	0.0:1.0:0.0:0.0	13.410	0.60383	695	0.58372	.	.	.	.	.	.	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	0.006434	0.000000	0.007937	0.012195	0.000000	0.000000	0.009615	0.000000	0.02632	288.33	27	chr5	123090204	.	C	G	288.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.362;DP=594;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.74;ReadPosRankSum=0.328;SOR=0.602	GT:AD:DP:GQ:PL	0/1:19,14:33:99:302,0,540	18	0	1	0
chr5	127440835	127440835	G	A	exonic	MEGF10	.	nonsynonymous SNV	MEGF10:NM_001256545:exon18:c.G2330A:p.R777H,MEGF10:NM_032446:exon19:c.G2330A:p.R777H	Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, Autosomal recessive;Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	.	513275	not_provided|MEGF10-related_myopathy	MedGen:C3661900|MONDO:MONDO:0013731,MedGen:C3280679,OMIM:614399,Orphanet:439212	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.487	0.0513543113422	.	0.000798722	0.0001	9.612e-05	0.0002	0	0	0.0001	0	0.0004	0.0001423	22	154602	rs565304206	5.404e-05	5.404e-05	4.628e-05	6.188e-05	0.0017	4.41e-05	4.082e-05	0.0009	0.0007	0	0	0	0	0	0.0017	4.227e-05	8.279e-05	0.0002	8.535e-05	8.53e-05	5.139e-05	0.0001	0.0006	4.953e-05	3.959e-05	0.0002	9e-05	7.217e-05	0	0.0002	0	0	0	0.0034	1.47e-05	0.0009	0.0006	0.004	0.65419	D	0.065	0.44702	T	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.06	0.56677	M	1.57	0.29342	T	-3.0	0.62343	D	0.817	0.81459	-0.9455	0.41731	T	0.191	0.54257	T	10	0.6128238	0.67540	D	0.051354	0.64626	D	0.487	0.77528	.	.	0.431114715335	0.42728	0.47616673230400725	0.47536	0.933205851164	0.71920	0.858561396599	0.90898	D	0.14202	0.47739	T	-0.0560774	0.43518	T	-0.026179	0.68621	D	0.577050805091858	0.35505	D	0.957804	0.84101	D	0.6709626	0.76484	0.50768846	0.71547	0.6709626	0.76486	0.50768846	0.71548	-9.278	0.69469	D	0.6582479471156952	0.73134	0.237	0.50334	B	.;.	.;.	5.655595	0.92841	33	0.99946626413219808	0.99913	0.96927	0.71703	D	AEFDBCI	0.926383	0.90740	D	0.813497591026818	0.86942	9.05043	0.815123904940687	0.90825	10.58621	1.0	0.98316	0.732398	0.92422	0	0.573888	0.26702	0	0.743671	0.96076	0	0.530356	0.10902	0	.	.	6.03	6.03	0.97798	10.003000	0.99689	11.846000	0.97940	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.659000	0.32940	0.0:0.0:1.0:0.0	20.575	0.99368	400	0.82730	Laminin EGF domain|EGF-like, conserved site|EGF-like domain|Laminin EGF domain|EGF-like domain;Laminin EGF domain|EGF-like, conserved site|EGF-like domain|Laminin EGF 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	.	.	.	.	.	.	.	.	0.02632	2231.33	40	chr5	127440835	.	G	A	2231.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.14;DP=822;ExcessHet=0;FS=2.645;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.33;ReadPosRankSum=0.172;SOR=0.933	GT:AD:DP:GQ:PL	0/1:92,89:181:99:2245,0,2137	18	0	1	0
chr5	128288437	128288437	C	G	splicing	FBN2	NM_001999:exon53:c.6757+1G>C	.	.	Contractural arachnodactyly, congenital, Autosomal dominant;Macular degeneration, early-onset, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.849e-07	1.3e-05	1.363e-06	0	.	0	0	.	.	0	0	3.828e-05	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.452291	0.92585	D	0.411908	0.92493	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	5.587977	0.92356	32	0.99542283063003867	0.70586	0.99662	0.98450	D	AEFBI	.	.	.	1.14852595648222	0.98936	19.94604	0.987184040390611	0.98363	18.07802	0.999999999969448	0.74766	0.163922	0.03765	0	0.063388	0.01293	0	0.175069	0.04249	0	0.24341	0.04801	0	0.987168	0.95559	4.86	4.86	0.62624	7.905000	0.86479	7.672000	0.64834	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.934000	0.47231	0.0:1.0:0.0:0.0	18.546	0.90998	733	0.53988	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05556	319.76	72	chr5	128288437	.	C	G	319.76	.	AC=2;AF=0.056;AN=36;BaseQRankSum=-0.809;DP=1313;ExcessHet=0.119;FS=195.695;InbreedingCoeff=-0.0757;MLEAC=2;MLEAF=0.056;MQ=60;MQRankSum=0;QD=1.6;ReadPosRankSum=3.25;SOR=7.864	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:68,10:78:99:0|1:128288437_C_G:159,0,2801:128288437	16	0	2	1
chr5	128288438	128288438	C	G	exonic	FBN2	.	nonsynonymous SNV	FBN2:NM_001999:exon53:c.G6757C:p.D2253H	Contractural arachnodactyly, congenital, Autosomal dominant;Macular degeneration, early-onset, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.879	0.430626382782	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	.	.	.	1.0	0.90584	D	0.999	0.92359	D	0.694607	0.10146	N	0.852832	1	0.81001	D	3.835	0.95663	H	-5.39	0.99055	D	-5.33	0.84601	D	0.946	0.95374	1.101	0.99694	D	0.983	0.99482	D	9	0.98123467	0.98137	D	0.430626	0.93974	D	0.879	0.96428	0.905	0.97985	0.931387637819	0.93068	0.9248113223682665	0.92458	0.944348631935	0.72353	0.844889104366	0.88841	D	0.843142	0.96360	D	0.584583	0.97082	D	0.601936	0.97034	D	0.999141216278076	0.96328	D	0.989326	0.96464	D	0.6636905	0.76096	0.6756067	0.80952	0.6636905	0.76098	0.6756067	0.80952	-14.719	0.95159	D	.	.	0.995	0.95383	P	.;.;.	.;.;.	6.541209	0.95375	34	0.99491875384234207	0.67516	0.99662	0.98450	D	AEFBI	0.955192	0.97285	D	0.930340387445476	0.93165	11.86249	0.848877612808232	0.92950	11.73124	0.999999999969448	0.74766	0.732398	0.92422	0	0.573888	0.26702	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	4.86	4.86	0.62624	7.905000	0.86479	5.978000	0.52118	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.959000	0.51448	0.0:1.0:0.0:0.0	18.546	0.90998	733	0.53988	EGF-like calcium-binding domain|EGF-like domain|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|EGF-like calcium-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	.	.	.	.	.	.	.	.	0.2857	1727.26	102	chr5	128288438	.	C	G	1727.26	.	AC=8;AF=0.286;AN=28;BaseQRankSum=-1.028;DP=1798;ExcessHet=4.0268;FS=185.259;InbreedingCoeff=-0.3823;MLEAC=10;MLEAF=0.357;MQ=60;MQRankSum=0;QD=2.11;ReadPosRankSum=1.46;SOR=11.604	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:68,10:78:99:0|1:128288437_C_G:159,0,2801:128288437	6	0	8	5
chr5	128288443	128288443	C	T	exonic	FBN2	.	nonsynonymous SNV	FBN2:NM_001999:exon53:c.G6752A:p.C2251Y	Contractural arachnodactyly, congenital, Autosomal dominant;Macular degeneration, early-onset, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.824	0.123461768064	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	.	.	.	0.997	0.70673	D	0.996	0.84481	D	0.171149	0.03111	N	1.846500	0.999999	0.58761	D	3.695	0.94570	H	-2.76	0.90848	D	-7.86	0.96085	D	0.964	0.97535	0.409	0.89235	D	0.906	0.96895	D	10	0.9834906	0.98490	D	0.123462	0.80464	D	0.824	0.94390	0.946	0.99325	0.934085895406	0.93340	0.9903539687419001	0.99030	1.12556060977	0.78443	0.884529829025	0.94562	D	0.926386	0.98721	D	0.498134	0.94243	D	0.477758	0.94166	D	0.998788297176361	0.95158	D	0.972403	0.89999	D	0.7648719	0.81741	0.7838173	0.87263	0.7648719	0.81743	0.7838173	0.87263	-11.076	0.80073	D	0.8184896870235474	0.89198	0.994	0.95199	P	.;.;.	.;.;.	5.178057	0.86807	29.0	0.99745666006938727	0.83852	0.99610	0.97961	D	AEFBI	0.953479	0.96980	D	0.90111024418429	0.91813	11.07861	0.83141225828265	0.91884	11.11993	0.999999999969448	0.74766	0.732398	0.92422	0	0.573888	0.26702	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	4.86	4.86	0.62624	7.905000	0.86479	7.674000	0.64943	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	18.546	0.90998	733	0.53988	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;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	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	786.67	107	chr5	128288443	.	C	T	786.67	.	AC=2;AF=0.056;AN=36;BaseQRankSum=-2.456;DP=1582;ExcessHet=0.3672;FS=130.34;InbreedingCoeff=-0.1015;MLEAC=2;MLEAF=0.056;MQ=60;MQRankSum=0;QD=2.33;ReadPosRankSum=2.02;SOR=8.789	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:77,11:88:99:0|1:128288437_C_G:168,0,3112:128288437	16	0	2	1
chr5	128288444	128288444	A	G	exonic	FBN2	.	nonsynonymous SNV	FBN2:NM_001999:exon53:c.T6751C:p.C2251R	Contractural arachnodactyly, congenital, Autosomal dominant;Macular degeneration, early-onset, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.854	0.20491362062	7.7e-05	.	8.251e-06	0	0	0	0	1.5e-05	0	0	6.5e-06	1	154602	rs377678254	0	4.109e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	.	.	.	0.997	0.70673	D	0.996	0.84481	D	0.171149	0.03111	N	1.846500	1	0.81001	D	3.695	0.94570	H	-2.78	0.90962	D	-8.67	0.97580	D	0.973	0.99015	0.348	0.88301	D	0.898	0.96618	D	10	0.9484539	0.94175	D	0.204914	0.86956	D	0.854	0.95507	.	.	0.953610712289	0.95311	0.9912745761668067	0.99122	0.944026267107	0.72331	0.878701329231	0.93785	D	0.925175	0.98690	D	0.504643	0.94436	D	0.487108	0.94357	D	0.999381065368652	0.97194	D	0.950805	0.81197	D	0.9238388	0.93623	0.88105124	0.93635	0.9238388	0.93624	0.88105124	0.93635	-12.745	0.88285	D	0.8721025990884144	0.93250	0.998	0.97573	P	.;.;.	.;.;.	5.128776	0.85820	28.7	0.9978510937982501	0.87131	0.99720	0.98948	D	AEFBI	0.954903	0.97235	D	0.872216392941965	0.90336	10.35719	0.795737407634473	0.89493	9.998643	0.999999875885111	0.74766	0.732398	0.92422	0	0.573888	0.26702	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	4.72	4.72	0.59248	9.325000	0.96006	11.217000	0.89620	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	1.0:0.0:0.0:0.0	14.659	0.68458	733	0.53988	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;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	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	154.33	141	chr5	128288444	.	A	G	154.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.828;DP=1550;ExcessHet=0;FS=85.075;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=1.75;ReadPosRankSum=1.51;SOR=6.09	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:77,11:88:99:0|1:128288437_C_G:168,0,3112:128288437	18	0	1	0
chr5	132864353	132864353	G	C	exonic	GDF9	.	nonsynonymous SNV	GDF9:NM_005260:exon1:c.C181G:p.L61V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.148	0.0193298004431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.42783	D	0.099	0.38891	T	0.9	0.49598	P	0.343	0.42509	B	0.003935	0.34318	N	0.311977	0.999995	0.08975	N	2.42	0.70002	M	0.19	0.60236	T	-0.72	0.20358	N	0.157	0.16308	-0.8257	0.53575	T	0.190	0.54108	T	10	0.2955783	0.47126	T	0.01933	0.41663	T	0.148	0.39182	0.377	0.39156	0.708705863831	0.70616	0.19792167272459063	0.19709	0.0415351482305	0.04460	0.339318692684	0.16335	T	0.456861	0.79546	T	-0.199135	0.20931	T	-0.52382	0.19909	T	0.453734338283539	0.30934	T	0.566043	0.20025	T	0.07196072	0.15972	0.080344625	0.18168	0.07196072	0.15972	0.080344625	0.18167	-3.41	0.15191	T	.	.	0.077	0.06295	B	.	.	2.312643	0.29604	18.18	0.99155670109324467	0.53931	0.89090	0.49350	D	AEFDBI	0.238694	0.36078	N	0.0574970633272622	0.44489	2.721939	0.0374256184061307	0.41469	2.491804	0.99991686312002	0.45857	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	6.02	3.18	0.35615	2.648000	0.46313	4.521000	0.43687	-0.140000	0.12423	1.000000	0.71638	1.000000	0.68203	0.534000	0.29800	0.2177:0.1305:0.6517:0.0	6.399	0.20829	902	0.24074	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.07895	132.28	33	chr5	132864353	.	G	C	132.28	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-5.037;DP=1045;ExcessHet=0.3672;FS=119.974;InbreedingCoeff=-0.0754;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=0.38;ReadPosRankSum=0.625;SOR=8.662	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:105,21:126:99:0|1:132864353_G_C:123,0,3788:132864353	16	0	3	0
chr5	138386226	138386226	G	C	exonic	KDM3B	.	nonsynonymous SNV	KDM3B:NM_016604:exon7:c.G985C:p.A329P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	0.00544320634367	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.054e-06	9.032e-05	2.725e-06	1.376e-06	2.7e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.7e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.36709	T	0.228	0.25286	T	0.001	0.07471	B	0.002	0.06944	B	0.000815	0.41658	D	0.203233	1	0.81001	D	0.895	0.22405	L	0.03	0.62183	T	0.18	0.05035	N	0.267	0.30233	-1.0410	0.17011	T	0.108	0.39123	T	10	0.084789276	0.14249	T	0.005443	0.13984	T	0.115	0.32236	0.146	0.04941	0.236619781664	0.23270	0.3316996984666752	0.33082	0.940861409752	0.72196	0.490030616522	0.37442	T	0.010718	0.09649	T	-0.0544729	0.43765	T	-0.316023	0.43009	T	0.128398833405917	0.15233	T	0.787021	0.42574	T	0.056165434	0.11014	0.11014413	0.26555	0.056165434	0.11013	0.11014413	0.26554	-3.799	0.20790	T	.	.	0.098	0.16187	B	.	.	2.362095	0.30299	18.39	0.99277544003266294	0.57799	0.90233	0.51248	D	AEFBI	0.401955	0.47624	N	-0.366598262700382	0.26666	1.457114	-0.186184598128118	0.32042	1.81919	0.999871070192208	0.44625	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635259	0.50027	0	.	.	5.35	3.57	0.40014	0.730000	0.25711	2.928000	0.35601	0.676000	0.76740	0.999000	0.42656	1.000000	0.68203	0.998000	0.85391	0.1636:0.1348:0.5444:0.1572	2.629	0.04638	367	0.84523	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	747.99	33	chr5	138386226	.	G	C	747.99	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.753;DP=1527;ExcessHet=1.3;FS=220.18;InbreedingCoeff=-0.1468;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=1.01;ReadPosRankSum=1.38;SOR=10.307	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:124,32:156:80:.:.:80,0,3225:.	18	0	1	0
chr5	139814306	139814306	C	T	exonic	PSD2	.	nonsynonymous SNV	PSD2:NM_032289:exon4:c.C958T:p.R320C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.499	0.0786315406083	.	.	8.344e-06	0	8.676e-05	0	0	0	0	0	6.5e-06	1	154602	rs780382900	2.738e-06	2.736e-06	2.724e-06	2.752e-06	3.598e-06	6.4e-07	4.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.598e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.993	0.81110	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.59	0.93643	H	0.59	0.53943	T	-6.57	0.91912	D	0.891	0.89020	-0.0657	0.80872	T	0.404	0.75409	T	10	0.90796024	0.90161	D	0.078632	0.73049	D	0.499	0.78288	0.739	0.87147	0.69339003149	0.69075	0.6353270743247242	0.63466	1.61574220227	0.89002	0.783847212791	0.79509	T	0.303303	0.67566	T	0.196336	0.73549	D	0.127112	0.78703	D	0.971614028740755	0.69384	D	0.99594	0.98606	D	0.6881761	0.77412	0.43403858	0.66937	0.6881761	0.77414	0.43403858	0.66937	-11.687	0.83293	D	.	.	0.613	0.69395	P	.	.	5.707384	0.93153	33	0.99936870850462478	0.99661	0.97441	0.74770	D	AEFBI	0.634458	0.61432	D	0.754608898647556	0.83204	7.956681	0.65607697358505	0.79062	7.004053	0.00175129679640722	0.08850	0.554377	0.28877	0	0.563428	0.19063	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	4.7	4.7	0.58776	3.525000	0.53257	4.820000	0.45111	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.3114:0.6886:0.0:0.0	11.641	0.50493	22	0.98466	Sec7 domain|Sec7 domain|Sec7 domain|Sec7 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	.	.	.	.	.	.	.	.	0.02632	1004.33	33	chr5	139814306	.	C	T	1004.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.21;DP=697;ExcessHet=0;FS=3.295;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.77;ReadPosRankSum=1.19;SOR=0.485	GT:AD:DP:GQ:PL	0/1:29,39:68:99:1018,0,634	18	0	1	0
chr5	139887483	139887483	C	G	exonic	NRG2	.	nonsynonymous SNV	NRG2:NM_001184935:exon2:c.G729C:p.K243N,NRG2:NM_004883:exon2:c.G729C:p.K243N,NRG2:NM_013981:exon2:c.G729C:p.K243N,NRG2:NM_013982:exon2:c.G729C:p.K243N,NRG2:NM_013983:exon2:c.G729C:p.K243N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.129	0.0404591134086	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.845e-07	0.0001	0	1.376e-06	8.999e-07	0	0	.	.	0	0	0	0	0	0	8.999e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.61437	D	0.159	0.58089	T	0.355	0.51611	B	0.285	0.52567	B	0.000553	0.43413	D	0.190992	0.843543	0.35106	D	0.855	0.21307	L	-0.42	0.69536	T	-2.26	0.50502	N	0.611	0.62781	-0.5718	0.65943	T	0.250	0.61993	T	10	0.51356286	0.62236	D	0.040459	0.59387	D	0.129	0.35316	0.432	0.48171	0.770213433332	0.76810	0.7045747211234696	0.70399	1.82077106802	0.91947	0.807813405991	0.83157	D	0.308239	0.68034	T	-0.142554	0.29486	T	-0.442546	0.28523	T	0.832137286663055	0.48697	D	0.877812	0.59215	D	0.16882665	0.37363	0.1489359	0.35185	0.16882665	0.37363	0.1489359	0.35184	-8.046	0.70185	D	.	.	0.798	0.86783	P	.;.;.;.;.;.	.;.;.;.;.;.	3.258046	0.44540	22.0	0.99831464818289628	0.91284	0.76178	0.37342	D	AEFBI	0.317848	0.42172	N	-0.0410797527166822	0.40002	2.368239	-0.0277489813419687	0.38467	2.266707	0.00604997340288372	0.11113	0.562547	0.31514	0	0.653731	0.59785	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.29	1.49	0.21966	0.199000	0.17037	0.102000	0.14662	-0.182000	0.10109	0.995000	0.38783	0.922000	0.28345	0.994000	0.71098	0.0:0.6914:0.0:0.3086	8.579	0.32777	21	0.98493	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;.;Immunoglobulin I-set|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	1	0	0	0	.	.	.	.	.	.	.	.	0.2059	1237.29	191	chr5	139887483	.	C	G	1237.29	.	AC=7;AF=0.206;AN=34;BaseQRankSum=-4.683;DP=1976;ExcessHet=5.3738;FS=248.454;InbreedingCoeff=-0.3809;MLEAC=8;MLEAF=0.235;MQ=60;MQRankSum=0;QD=1.08;ReadPosRankSum=0.756;SOR=11.622	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:109,29:138:45:.:.:45,0,3533:.	10	0	7	2
chr5	140786785	140786785	C	A	exonic	PCDHA1	.	nonsynonymous SNV	PCDHA1:NM_018900:exon1:c.C495A:p.N165K,PCDHA1:NM_031410:exon1:c.C495A:p.N165K,PCDHA1:NM_031411:exon1:c.C495A:p.N165K	.	424	1091	6	1	0	8	0.00365297	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.267	0.0545025285879	0.0002	.	6.605e-05	0	0	0	0	7.496e-05	0	0.0002	5.17e-05	8	154602	rs373829612	2.599e-05	2.599e-05	2.45e-05	2.75e-05	0.0007	1.932e-05	1.692e-05	0.0002	0.0001	0	0	0	0	0	0.0007	2.338e-05	8.279e-05	3.478e-05	3.285e-05	3.283e-05	3.853e-05	2.689e-05	6.545e-05	1.261e-05	7.98e-06	1.972e-05	1.124e-05	0	0	6.545e-05	0	0	0	0	5.879e-05	0	0	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.997	0.92359	D	0.000315	0.45977	U	0.000000	0.994396	0.25081	N	4.48	0.98915	H	0.23	0.59717	T	-5.65	0.87760	D	0.825	0.91968	-0.2425	0.76561	T	0.543	0.83185	D	10	0.8321685	0.82378	D	0.054503	0.65882	D	0.267	0.58126	0.851	0.95260	0.777066498421	0.77501	0.2984846932060023	0.29761	1.08417428134	0.77226	.	.	.	0.53023	0.83731	D	-0.177151	0.24159	T	-0.289587	0.45816	T	0.959610164165497	0.65579	D	0.992826	0.97638	D	0.87422496	0.89198	0.77909344	0.86973	0.87422496	0.89200	0.77909344	0.86974	-10.409	0.77060	D	.	.	0.729	0.76380	P	.;.;.	.;.;.	1.902752	0.24170	16.29	0.99065478163975207	0.51598	0.29860	0.23932	N	AEFDBI	0.346302	0.44116	N	-0.216727585839938	0.32448	1.829993	-0.616698020148007	0.19064	1.021227	0.266552085702639	0.18847	0.580535	0.33130	0	0.573888	0.26702	0	0.576033	0.28219	0	0.542086	0.14980	0	.	.	4.13	-3.8	0.04025	-0.925000	0.04100	.	.	-0.176000	0.10722	0.000000	0.06391	0.000000	0.08366	0.932000	0.46971	0.0:0.3051:0.0:0.6949	13.325	0.59895	19	0.98577	.;.;Cadherin-like|Cadherin-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1479.33	42	chr5	140786785	.	C	A	1479.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.13;DP=768;ExcessHet=0;FS=0.668;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.93;ReadPosRankSum=0.707;SOR=0.77	GT:AD:DP:GQ:PL	0/1:72,52:124:99:1493,0,1945	18	0	1	0
chr5	140849019	140849019	A	G	exonic	PCDHA9	.	nonsynonymous SNV	PCDHA9:NM_014005:exon1:c.A524G:p.N175S,PCDHA9:NM_031857:exon1:c.A524G:p.N175S	.	430	1084	7	1	0	9	0.00413413	.	.	.	2825267	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.106	0.00457859111907	0.0067	0.00159744	0.0062	0.0018	0.0048	0.0007	0.0035	0.0098	0.0054	0.0009	0.0013447	35	26028	rs144148683	0.0092	0.0095	0.0096	0.0089	0.0113	0.0091	0.0090	0.0111	0.0111	0.0016	0.0037	0.0015	0.0004	0.0036	0.0019	0.0113	0.0064	0.0006	0.0051	0.0057	0.0057	0.0045	0.0093	0.0048	0.0047	0.0087	0.0085	0.0013	0	0.0029	0.0019	0.0008	0.0024	0	0.0093	0.0027	0.0002	0.414	0.17701	T	0.223	0.33219	T	0.051	0.22415	B	0.07	0.27859	B	0.113132	0.19328	N	0.248113	1	0.81001	D	1.24	0.30952	L	0.73	0.50721	T	-2.55	0.59389	D	0.103	0.08646	-0.9829	0.34328	T	0.067	0.27399	T	10	0.006038487	0.00136	T	0.004579	0.11315	T	0.106	0.30130	.	.	0.399596177874	0.39575	0.14593835870146085	0.14515	.	.	.	.	.	0.033316	0.22864	T	-0.606109	0.00134	T	-0.688962	0.06449	T	0.0111972318146314	0.00164	T	0.80032	0.44736	T	0.054480493	0.10457	0.06389361	0.12723	0.054480493	0.10457	0.06389361	0.12722	-5.295	0.39894	T	.	.	0.053	0.00248	B	.;.	.;.	0.988433	0.13663	10.20	0.87836055382102796	0.17517	0.13875	0.18100	N	AEFDGBCI	0.145452	0.26866	N	-0.900258380287799	0.10836	0.5198317	-0.941970033878938	0.11110	0.5639968	0.00175298078908001	0.08850	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	4.12	-3.55	0.04343	-0.080000	0.11303	.	.	0.686000	0.82685	0.000000	0.06391	0.000000	0.08366	0.678000	0.33484	0.3989:0.1107:0.4903:0.0	8.909	0.34700	32	0.98147	Cadherin-like|Cadherin-like;.	PCDHB17P|TMCO6	Adipose_Subcutaneous|Thyroid	.	.	.	Likely benign	0	0	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	0.002706	0.005319	0.002717	0.000000	0.000000	0.000000	0.000000	0.007634	0.02632	1740.33	36	chr5	140849019	.	A	G	1740.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.848;DP=839;ExcessHet=0;FS=0.638;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=44.55;MQRankSum=0.971;QD=10.95;ReadPosRankSum=-1.185;SOR=0.601	GT:AD:DP:GQ:PL	0/1:87,72:159:99:1754,0,2368	18	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	.	.	.	.	.	.	.	.	0.25	1117.17	226	chr5	141173766	.	G	C	1117.17	.	AC=6;AF=0.25;AN=24;BaseQRankSum=-5.191;DP=3406;ExcessHet=4.0268;FS=229.301;InbreedingCoeff=-0.4104;MLEAC=7;MLEAF=0.292;MQ=60;MQRankSum=0;QD=0.71;ReadPosRankSum=0.731;SOR=12.262	GT:AD:DP:GQ:PL	0/1:136,59:195:99:377,0,2667	6	0	6	7
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	.	.	.	.	.	.	.	.	0.4706	14014.1	269	chr5	141303079	.	C	G	14014.1	.	AC=16;AF=0.471;AN=34;BaseQRankSum=-5.32;DP=3969;ExcessHet=25.4433;FS=253.579;InbreedingCoeff=-0.8095;MLEAC=16;MLEAF=0.471;MQ=60;MQRankSum=0;QD=4.49;ReadPosRankSum=1.54;SOR=13.726	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:142,73:215:99:0|1:141303078_A_G:1536,0,4543:141303078	1	0	16	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	.	.	.	.	.	.	.	.	0.4737	19266.3	284	chr5	141303081	.	A	G	19266.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-3.62;DP=4066;ExcessHet=38.2876;FS=254.572;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=60;MQRankSum=0;QD=5.08;ReadPosRankSum=1.37;SOR=14.095	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:149,62:211:99:0|1:141303078_A_G:926,0,4681:141303078	1	0	18	0
chr5	146459073	146459078	CAGGCC	-	exonic	TCERG1	.	nonframeshift deletion	TCERG1:NM_001040006:exon4:c.628_633del:p.A241_Q242del,TCERG1:NM_001382548:exon4:c.628_633del:p.A241_Q242del,TCERG1:NM_006706:exon4:c.628_633del:p.A241_Q242del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0236	.	0.0017	0.0182	0.0008	0.0004	0	0.0003	0	0.0004	0.0014165	219	154602	rs770017912	0.0012	0.0012	0.0014	0.0011	0.0295	0.0012	0.0012	0.0280	0.0274	0.0295	0.0016	3.835e-05	0.0014	3.772e-05	0.0035	0.0004	0.0021	0.0007	0.0084	0.0084	0.0084	0.0084	0.0286	0.0080	0.0078	0.0272	0.0267	0.0286	0	0.0031	0	0.0010	0.0002	0	0.0005	0.0049	0.0011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	5121.34	95	chr5	146459072	.	TCAGGCC	T	5121.34	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.991;DP=1126;ExcessHet=0.7564;FS=0.403;InbreedingCoeff=-0.1176;MLEAC=1;MLEAF=0.026;MQ=59.89;MQRankSum=0;QD=15.47;ReadPosRankSum=0.214;SOR=0.724	GT:AD:DP:GQ:PL	0/1:31,35:66:99:1246,0,1099	18	0	1	0
chr5	148827490	148827490	C	G	exonic	ADRB2	.	nonsynonymous SNV	ADRB2:NM_000024:exon1:c.C659G:p.S220C	Beta-2-adrenoreceptor agonist, reduced response to (3)	.	.	.	.	.	.	.	.	.	.	691775	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.279	.	0.0082	0.00978435	0.0025	0.0271	0.0012	0	0	0.0001	0	6.056e-05	0.002445	378	154602	rs3729943	0.0008	0.0008	0.0009	0.0006	0.0265	0.0007	0.0007	0.0251	0.0245	0.0265	0.0012	0	0	1.873e-05	0.0003	7.194e-05	0.0018	0.0001	0.0072	0.0072	0.0075	0.0068	0.0252	0.0069	0.0067	0.0239	0.0234	0.0252	0	0.0020	0	0	0	0	7.352e-05	0.0062	0.0004	0.028	0.46129	D	0.184	0.29056	T	0.997	0.70673	D	0.909	0.64565	D	0.000035	0.55875	D	0.161473	0.994721	0.42392	D	1.1	0.28011	L	-0.62	0.71895	T	-1.61	0.38734	N	0.359	0.40063	-0.4713	0.69679	T	0.240	0.60797	T	10	0.012524247	0.00269	T	.	.	.	0.279	0.59619	.	.	0.852084556051	0.85066	0.6714026814903222	0.67078	1.33985381035	0.83824	0.448587357998	0.31752	T	0.184967	0.53779	T	-0.42478	0.01595	T	-0.362671	0.37743	T	0.0217969034508663	0.00885	T	0.892711	0.62952	D	0.63405156	0.74514	0.46735463	0.69099	0.63405156	0.74515	0.46735463	0.69099	-2.817	0.08341	T	0.18211024657850605	0.23515	0.072	0.04277	B	.	.	4.211701	0.63633	24.6	0.98867703912175409	0.47580	0.78950	0.39033	D	AEFDBCI	0.365940	0.45394	N	0.550538824271304	0.70115	5.454351	0.585787474970697	0.73919	6.05005	0.999999995949295	0.74766	0.625279	0.40028	0	0.541556	0.11502	0	0.687403	0.62504	0	0.627883	0.49187	0	.	.	5.61	5.61	0.85347	1.155000	0.31311	6.033000	0.52942	0.599000	0.40250	0.990000	0.36992	1.000000	0.68203	0.995000	0.73285	0.0:0.8671:0.1329:0.0	16.181	0.81711	783	0.47268	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	0.003525	0.005051	0.006793	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	2897.33	143	chr5	148827490	.	C	G	2897.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.56;DP=1513;ExcessHet=0;FS=2.557;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.49;ReadPosRankSum=-0.368;SOR=0.891	GT:AD:DP:GQ:PL	0/1:85,102:187:99:2911,0,2270	18	0	1	0
chr5	149836596	149836596	C	T	exonic	PPARGC1B	.	nonsynonymous SNV	PPARGC1B:NM_001172698:exon7:c.C2024T:p.P675L,PPARGC1B:NM_001172699:exon7:c.C1949T:p.P650L,PPARGC1B:NM_133263:exon8:c.C2141T:p.P714L	.	412	1109	1	0	0	1	0.000450653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	.	0.0107	0.0081869	0.0028	0.0310	0.0014	0	0	3.014e-05	0	0.0001	0.0026196	405	154602	rs45509002	0.0009	0.0009	0.0011	0.0008	0.0345	0.0009	0.0009	0.0328	0.0322	0.0345	0.0013	0	0	0	0.0003	3.687e-05	0.0018	0.0001	0.0087	0.0087	0.0091	0.0083	0.0304	0.0083	0.0081	0.0290	0.0284	0.0304	0	0.0027	0	0	0	0	7.35e-05	0.0071	0	0.021	0.49117	D	0.023	0.63918	D	0.998	0.73220	D	0.9	0.64494	P	0.000416	0.44736	D	0.158723	0.998511	0.45021	D	2.765	0.80766	M	2.95	0.09728	T	-4.48	0.79143	D	0.563	0.58713	-1.1987	0.00159	T	0.019	0.08033	T	10	0.0048264563	0.00102	T	.	.	.	0.128	0.35103	.	.	0.393344232652	0.38951	0.26649894556566217	0.26562	0.631211528713	0.57086	0.517283380032	0.41243	T	0.486598	0.81301	T	-0.509972	0.00502	T	-0.482318	0.24200	T	0.045071126800616	0.04615	T	0.883612	0.60617	D	0.1542476	0.34923	0.15891685	0.37088	0.1542476	0.34923	0.15891685	0.37087	-6.04	0.47231	T	.	.	0.168	0.39832	B	.;.;.;.	.;.;.;.	4.017213	0.59304	24.1	0.99877119108409462	0.95410	0.77742	0.38260	D	AEFDGBCI	0.143254	0.26591	N	0.405420079669847	0.61718	4.376942	0.385459825948099	0.60667	4.25692	0.999999396581944	0.74766	0.460665	0.09802	0	0.577304	0.33150	0	0.408882	0.06424	0	0.567892	0.33627	0	.	.	4.75	4.75	0.59954	2.480000	0.44865	4.891000	0.45764	0.599000	0.40250	0.955000	0.33325	1.000000	0.68203	0.623000	0.31974	0.0:0.9176:0.0:0.0824	11.663	0.50620	816	0.41767	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1121.33	33	chr5	149836596	.	C	T	1121.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.2;DP=724;ExcessHet=0;FS=6.415;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.44;ReadPosRankSum=-1.009;SOR=1.09	GT:AD:DP:GQ:PL	0/1:53,45:98:99:1135,0,1338	18	0	1	0
chr5	151568727	151568727	C	T	exonic	FAT2	.	nonsynonymous SNV	FAT2:NM_001447:exon2:c.G205A:p.V69M	.	.	.	.	.	.	.	.	.	.	.	709765	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.251	.	0.0081	0.00758786	0.0022	0.0239	0.0010	0	0	1.498e-05	0.0022	0.0001	0.0020504	317	154602	rs116402695	0.0006	0.0006	0.0007	0.0005	0.0234	0.0006	0.0006	0.0221	0.0215	0.0234	0.0007	0	0	0	0.0007	7.194e-06	0.0013	6.956e-05	0.0068	0.0068	0.0070	0.0066	0.0243	0.0065	0.0063	0.0230	0.0225	0.0243	0	0.0014	0	0	0	0	8.82e-05	0.0009	0	0.003	0.68238	D	0.004	0.74150	D	0.988	0.62325	D	0.694	0.53938	P	0.000859	0.41440	D	0.108992	0.982982	0.39958	D	3.17	0.88688	M	-0.06	0.63568	T	-2.01	0.46337	N	0.325	0.36569	-0.6177	0.64084	T	0.102	0.37669	T	10	0.007940859	0.00180	T	.	.	.	0.251	0.56024	.	.	0.727057075958	0.72463	0.5939544387528147	0.59325	0.508231719013	0.48984	0.485226750374	0.36778	T	0.280389	0.65309	T	-0.446488	0.01184	T	-0.395202	0.33943	T	0.063397641629022	0.07693	T	0.875612	0.58729	D	0.09874846	0.23296	0.12646623	0.30457	0.09874846	0.23295	0.12646623	0.30457	-6.209	0.47996	T	.	.	0.221	0.45161	B	.	.	4.251970	0.64550	24.7	0.9988107401265085	0.95733	0.64409	0.32398	D	AEFDBCI	0.158054	0.28366	N	0.609546544433123	0.73779	6.021981	0.595909408412026	0.74644	6.172601	0.999994570522865	0.74766	0.487112	0.14033	0	0.55458	0.17659	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.35	5.35	0.76297	2.668000	0.46481	4.872000	0.45577	0.599000	0.40250	0.999000	0.42656	1.000000	0.68203	0.763000	0.36255	0.0:0.7878:0.0:0.2122	6.970	0.23824	891	0.26808	Cadherin-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	2612.33	44	chr5	151568727	.	C	T	2612.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.974;DP=942;ExcessHet=0;FS=3.008;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.87;ReadPosRankSum=-0.381;SOR=0.905	GT:AD:DP:GQ:PL	0/1:116,104:220:99:2626,0,2919	18	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	.	.	.	.	.	.	.	.	0.3889	2926.77	122	chr5	154834880	.	G	C	2926.77	.	AC=14;AF=0.389;AN=36;BaseQRankSum=-3.509;DP=2450;ExcessHet=17.0548;FS=265.035;InbreedingCoeff=-0.631;MLEAC=15;MLEAF=0.417;MQ=60;MQRankSum=0;QD=1.67;ReadPosRankSum=1.04;SOR=12.969	GT:AD:DP:GQ:PL	0/1:90,37:136:92:92,0,1672	4	0	14	1
chr5	157052557	157052557	C	0	exonic	HAVCR1	.	.	.	.	1	2	91	30	102	253	0.974194	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5556	128065.0	769	chr5	157052557	.	C	*	128065.0	.	AC=20;AF=0.556;AN=36;BaseQRankSum=0.778;DP=10426;ExcessHet=0.1504;FS=0;InbreedingCoeff=0.0434;MLEAC=21;MLEAF=0.583;MQ=60;MQRankSum=0;QD=14.25;ReadPosRankSum=-0.521;SOR=0.686	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:0,239:524:99:.:.:22720,11697,10869:.	5	7	6	1
chr5	159972042	159972042	-	CGCCGCCGA	exonic	ADRA1B	.	nonframeshift insertion	ADRA1B:NM_000679:exon2:c.1113_1114insCGCCGCCGA:p.R380_L381insRRR	.	359	1162	1	0	0	1	0.000430108	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0.0002	0	0.0006	0.0003	0	8.154e-05	0.0004916	76	154602	rs764801657	0.0040	0.0036	0.0040	0.0040	0.0047	0.0039	0.0039	0.0046	0.0045	0.0006	0.0008	0.0008	3.425e-05	0.0013	0.0004	0.0047	0.0026	0.0001	0.0030	0.0031	0.0036	0.0024	0.0052	0.0028	0.0027	0.0048	0.0046	0.0010	0	0.0026	0.0009	0	0.0012	0	0.0052	0.0019	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	305.29	41	chr5	159972042	.	C	CCGCCGCCGA	305.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.455;DP=701;ExcessHet=0;FS=1.603;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.21;ReadPosRankSum=-2.267;SOR=1.085	GT:AD:DP:GQ:PL	0/1:16,9:25:99:319,0,626	18	0	1	0
chr5	170788643	170788643	G	A	exonic	GABRP	.	nonsynonymous SNV	GABRP:NM_001291985:exon2:c.G28A:p.V10M,GABRP:NM_014211:exon2:c.G28A:p.V10M	.	430	1090	2	0	0	2	0.00091659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.222	0.0215384847876	0.0049	0.000798722	0.0031	0.0013	0.0030	0	0.0029	0.0045	0.0022	0.0002	0.0032406	501	154602	rs76296815	0.0055	0.0055	0.0057	0.0053	0.0066	0.0054	0.0054	0.0065	0.0065	0.0012	0.0034	0.0031	0	0.0020	0.0009	0.0066	0.0044	0.0004	0.0039	0.0039	0.0042	0.0035	0.0062	0.0036	0.0035	0.0057	0.0055	0.0011	0.0055	0.0058	0.0020	0	0.0008	0	0.0062	0.0047	0.0006	0.389	0.10874	T	0.036	0.60972	D	0.001	0.09854	B	0.0	0.04355	B	0.210578	0.03384	N	1.606340	1	0.08975	N	0	0.06538	N	0.6	0.86010	T	0.0	0.09135	N	0.074	0.15888	-0.5701	0.66011	T	0.276	0.64804	T	10	0.008553207	0.00194	T	0.021538	0.44322	T	0.222	0.51872	.	.	0.335910606209	0.33200	0.33232100622855626	0.33145	0.118740960914	0.13371	0.261311173439	0.05048	T	0.055632	0.30062	T	-0.431912	0.01443	T	-0.382157	0.35470	T	0.00513176327198076	0.00055	T	0.461754	0.16548	T	0.024692051	0.01327	0.049587134	0.07607	0.024692051	0.01327	0.049587134	0.07607	-5.382	0.40746	T	.	.	0.114	0.27553	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	-1.739649	0.00179	0.003	0.750299544472671	0.10918	0.00376	0.01908	N	AEFBI	0.050318	0.08782	N	-2.3150680113655	0.00042	0.001803101	-2.42388994587884	0.00035	0.00152302	0.999999992033466	0.74766	0.615465	0.37627	0	0.563428	0.19063	0	0.658983	0.55881	0	0.574951	0.34960	1	.	.	5.0	-10.0	0.00350	-5.522000	0.00138	-11.353000	0.00612	-3.078000	0.00127	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.3276:0.1611:0.5113:0.0	13.130	0.58797	882	0.29131	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	0.003049	0.000000	0.02632	1748.33	45	chr5	170788643	.	G	A	1748.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.74;DP=1071;ExcessHet=0;FS=2.213;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.45;ReadPosRankSum=-0.858;SOR=0.518	GT:AD:DP:GQ:PL	0/1:62,68:130:99:1762,0,1466	18	0	1	0
chr5	178143652	178143652	A	G	exonic	RMND5B	.	nonsynonymous SNV	RMND5B:NM_001288795:exon6:c.A413G:p.D138G,RMND5B:NM_022762:exon6:c.A452G:p.D151G,RMND5B:NM_001288794:exon7:c.A452G:p.D151G	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.184	0.00659050359315	.	0.00139776	0.0004	0	0	0	0	3.002e-05	0	0.0032	0.0004075	63	154602	rs561482862	0.0001	0.0001	8.849e-05	0.0002	0.0024	0.0001	0.0001	0.0021	0.0020	0	0	0	0	0	0.0002	1.799e-06	0.0001	0.0024	7.877e-05	7.874e-05	6.423e-05	9.397e-05	0.0025	4.493e-05	3.509e-05	0.0014	0.0011	0	0	0	0	0	0	0	0	0	0.0025	0.45	0.10482	T	0.402	0.14912	T	0.0	0.07471	B	0.001	0.06944	B	0.000013	0.62929	D	0.113933	0.957366	0.39060	D	-0.115	0.04602	N	.	.	.	-0.96	0.25551	N	0.356	0.40465	-1.0483	0.14875	T	0.081	0.32002	T	9	0.006145209	0.00138	T	0.006591	0.17386	T	0.184	0.45763	0.496	0.58520	0.37762505005	0.37376	0.26214385591664097	0.26127	0.255294500027	0.28121	0.569583237171	0.48619	T	0.045298	0.27081	T	-0.344908	0.05056	T	-0.272204	0.47596	T	0.0523298178560495	0.05905	T	0.825917	0.48908	T	0.11679287	0.27542	0.113933496	0.27501	0.11679287	0.27542	0.113933496	0.27500	-4.079	0.24980	T	.	.	0.109	0.26917	B	.;.;.	.;.;.	3.204816	0.43602	21.8	0.97672333858760851	0.35264	0.56363	0.30098	D	AEFBCI	0.209495	0.33547	N	-0.365414676877918	0.26710	1.459795	-0.181938154933238	0.32201	1.829629	0.999996338150188	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.15	4.15	0.47978	3.150000	0.50359	6.951000	0.57024	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	1.0:0.0:0.0:0.0	9.512	0.38247	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	0.002014	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.011364	0.02632	2245.33	34	chr5	178143652	.	A	G	2245.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.48;DP=799;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.81;ReadPosRankSum=1.31;SOR=0.7	GT:AD:DP:GQ:PL	0/1:55,87:142:99:2259,0,1099	18	0	1	0
chr6	16327663	16327663	-	TGA	exonic	ATXN1	.	nonframeshift insertion	ATXN1:NM_001128164:exon7:c.647_648insTCA:p.Q215_Q216insH,ATXN1:NM_000332:exon8:c.647_648insTCA:p.Q215_Q216insH	Spinocerebellar ataxia 1, Autosomal dominant	5	1457	32	0	28	60	0.0108622	.	.	.	3203057	ATXN1-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0.0003	0.0030	0	2.698e-05	0	0.0003	6.5e-06	1	154602	rs766029394	0.0029	0.0032	0.0025	0.0033	0.0637	0.0028	0.0028	0.0614	0.0605	0.0003	0.0032	0.0007	0.0637	0.0012	0.0021	0.0005	0.0035	0.0116	0.0051	0.0059	0.0044	0.0058	0.0947	0.0048	0.0046	0.0862	0.0829	0.0007	0	0.0067	0.0012	0.0947	0.0013	0	0.0019	0.0106	0.0199	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1316.78	41	chr6	16327663	.	C	CTGA	1316.78	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.13;DP=1423;ExcessHet=0.119;FS=11.302;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.08;ReadPosRankSum=3.06;SOR=1.666	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:44,16:60:99:0|1:16327663_C_CTGA:537,0,1733:16327663	18	0	1	0
chr6	16327666	16327666	-	TGA	exonic	ATXN1	.	nonframeshift insertion	ATXN1:NM_001128164:exon7:c.644_645insTCA:p.Q214_Q215insH,ATXN1:NM_000332:exon8:c.644_645insTCA:p.Q214_Q215insH	Spinocerebellar ataxia 1, Autosomal dominant	5	1460	31	0	26	57	0.0105049	.	.	.	3214550	ATXN1-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs758319764	0.0009	0.0011	0.0008	0.0011	0.0204	0.0009	0.0009	0.0191	0.0186	0.0002	0.0016	0	0.0204	0.0001	0.0006	9.478e-05	0.0011	0.0047	0.0016	0.0019	0.0014	0.0019	0.0491	0.0014	0.0014	0.0417	0.0390	0.0004	0	0.0017	0	0.0491	9.919e-05	0	0.0004	0.0033	0.0092	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	737.81	41	chr6	16327666	.	C	CTGA	737.81	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.055;DP=1412;ExcessHet=0.119;FS=13.892;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=6.2;ReadPosRankSum=3.6;SOR=2.068	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:44,16:60:99:0|1:16327663_C_CTGA:538,0,1732:16327663	18	0	1	0
chr6	24145911	24145911	A	G	exonic	NRSN1	.	nonsynonymous SNV	NRSN1:NM_080723:exon4:c.A553G:p.R185G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.0092157818594	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1274678295	8.215e-06	8.209e-06	6.812e-06	9.632e-06	9.894e-06	4.38e-06	3.46e-06	5.31e-06	3.88e-06	0	0	0	0	0	0	9.894e-06	1.658e-05	0	6.569e-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	0.009	0.57480	D	0.013	0.63109	D	0.13	0.27095	B	0.022	0.19653	B	0.000377	0.45194	D	0.251551	0.623162	0.81001	D	0	0.06538	N	2.05	0.20664	T	-1.49	0.36385	N	0.094	0.07535	-1.0779	0.07761	T	0.020	0.08453	T	10	0.1253792	0.23825	T	0.009216	0.24225	T	0.027	0.05988	0.399	0.42753	0.239901079897	0.23603	0.6926515116065171	0.69205	0.377667360134	0.39193	0.286617040634	0.08431	T	0.054617	0.29774	T	-0.198237	0.21061	T	-0.507044	0.21619	T	0.374184250831604	0.27959	T	0.811219	0.46271	T	0.18000871	0.39101	0.2233324	0.47208	0.18000871	0.39100	0.2233324	0.47207	-2.92	0.09345	T	.	.	0.094	0.15251	B	.;.	.;.	2.997754	0.40040	21.1	0.98289433793818637	0.39935	0.84391	0.43473	D	AEFGBHCIJ	0.358286	0.44901	N	-0.193135523571529	0.33418	1.895791	-0.0669357637144418	0.36765	2.143874	0.999999999867944	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.35	2.93	0.33092	3.235000	0.51027	5.274000	0.48161	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.7137:0.2863:0.0:0.0	12.245	0.53880	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	.	.	.	.	.	.	.	.	0.02632	1479.33	34	chr6	24145911	.	A	G	1479.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.286;DP=850;ExcessHet=0;FS=1.288;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.13;ReadPosRankSum=0.935;SOR=0.811	GT:AD:DP:GQ:PL	0/1:76,70:146:99:1493,0,1973	18	0	1	0
chr6	25966733	25966733	C	T	exonic	TRIM38	.	nonsynonymous SNV	TRIM38:NM_006355:exon3:c.C211T:p.L71F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.00796907162346	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.56	0.06381	T	0.073	0.43159	T	0.013	0.16609	B	0.025	0.20508	B	0.175580	0.17247	N	0.425981	1	0.08975	N	1.495	0.37439	L	1.91	0.23283	T	-1.33	0.33197	N	0.07	0.04307	-0.9823	0.34468	T	0.015	0.06282	T	10	0.030255616	0.01152	T	0.007969	0.21136	T	0.084	0.24469	0.369	0.37850	0.186928172975	0.18263	0.4083657326756324	0.40752	0.250326902803	0.27606	0.307843506336	0.11581	T	0.012802	0.11189	T	-0.263648	0.12476	T	-0.616488	0.11462	T	0.0391985756456803	0.03547	T	0.528347	0.17454	T	0.08360698	0.19313	0.04607029	0.06338	0.08360698	0.19313	0.04607029	0.06338	-4.433	0.30001	T	.	.	0.148	0.32709	B	.	.	-0.137679	0.03423	0.624	0.57455407643429457	0.05773	0.02649	0.07255	N	AEFBCI	0.026864	0.02090	N	-1.42567298449373	0.02415	0.1066086	-1.50671047999851	0.02292	0.1051811	0.999762200663436	0.42728	0.722319	0.85440	0	0.685571	0.66316	0	0.675528	0.61593	0	0.735409	0.98432	0	.	.	4.37	-1.79	0.07504	-1.432000	0.02536	-5.321000	0.01762	-1.022000	0.01727	0.000000	0.06391	0.000000	0.08366	0.037000	0.13953	0.26:0.2432:0.255:0.2419	0.278	0.00224	505	0.75648	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	2435.33	34	chr6	25966733	.	C	T	2435.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.114;DP=842;ExcessHet=0;FS=10.022;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.84;ReadPosRankSum=-1.04;SOR=0.733	GT:AD:DP:GQ:PL	0/1:82,94:176:99:2449,0,2080	18	0	1	0
chr6	26198985	26198985	C	T	exonic	H2AC7	.	nonsynonymous SNV	H2AC7:NM_021065:exon1:c.G259A:p.A87T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.759	0.243836131331	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.994	0.82059	D	0.000643	0.42656	U	0.000000	1	0.81001	D	4.38	0.98579	H	-1.33	0.79854	T	-3.5	0.68178	D	0.469	0.60156	0.839	0.94897	D	0.778	0.92457	D	10	0.92765284	0.92110	D	0.243836	0.88818	D	0.759	0.91795	0.792	0.91365	0.879523181035	0.87834	0.32191273444187773	0.32104	0.395548173852	0.40695	0.899270951748	0.96359	D	0.394837	0.75387	T	0.296489	0.82686	D	0.18811	0.82462	D	0.998436748981476	0.94140	D	0.970803	0.89686	D	0.8462044	0.87056	0.8541044	0.91780	0.8462044	0.87058	0.8541044	0.91780	-11.617	0.82936	D	.	.	0.982	0.97401	P	.;.;.	.;.;.	4.265032	0.64845	24.8	0.99573985666592024	0.72561	0.62671	0.31852	D	ALL	0.567045	0.57278	D	0.783509423480026	0.85064	8.46597	0.593108010027542	0.74444	6.138226	1.0	0.98316	0.006267	0.00052	3	0.093493	0.02558	3	0.166054	0.03999	2	0.249971	0.05119	0	.	.	4.82	3.95	0.44952	4.892000	0.62883	1.127000	0.24293	0.594000	0.32500	1.000000	0.71638	0.976000	0.30059	0.302000	0.24547	0.0:0.9178:0.0:0.0822	12.486	0.55218	689	0.59000	.;.;Histone H2A/H2B/H3	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	3167.33	34	chr6	26198985	.	C	T	3167.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.376;DP=1157;ExcessHet=0;FS=2.132;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.67;ReadPosRankSum=-0.037;SOR=0.851	GT:AD:DP:GQ:PL	0/1:120,130:250:99:3181,0,3234	18	0	1	0
chr6	29943300	29943300	G	C	exonic	HLA-A	.	nonsynonymous SNV	HLA-A:NM_001242758:exon3:c.G376C:p.D126H,HLA-A:NM_002116:exon3:c.G376C:p.D126H	.	0	1474	41	7	0	55	0.018315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.166	.	0.0023	0.00698882	0.0051	0.0010	0.0034	0.0081	0.0047	0.0043	0.0090	0.0095	0.0039391	609	154602	rs199474490	0.0044	0.0043	0.0039	0.0048	0.0188	0.0043	0.0042	0.0146	0.0131	0.0015	0.0042	0.0301	0.0069	0.0030	0.0188	0.0028	0.0066	0.0141	0.0009	0.0036	0.0008	0.0009	0.0046	0.0007	0.0006	0.0020	0.0014	0.0003	0	0.0009	0.0144	0.0027	0.0008	0	0.0004	0.0014	0.0046	0.003	0.68238	D	0.018	0.59732	D	0.022	0.90584	B	0.529	0.97372	P	0.126621	0.02772	U	13.091800	0.671307	0.30362	N	.	.	.	5.38	0.01033	T	-4.99	0.83092	D	0.284	0.32701	-1.0870	0.06048	T	0.018	0.07282	T	10	0.008825779	0.00200	T	.	.	.	0.166	0.42578	.	.	0.648470103757	0.64555	0.24578017633699462	0.24492	0.273103400774	0.29815	0.344277799129	0.17075	T	0.036046	0.23955	T	-0.392348	0.02598	T	-0.335542	0.40848	T	0.0927495050700933	0.11540	T	0.146985	0.01214	T	0.6519732	0.75469	0.672446	0.80775	0.6519732	0.75471	0.672446	0.80776	-9.897	0.73292	D	.	.	0.260	0.51985	B	.;.;.;.;.	.;.;.;.;.	2.785315	0.36596	20.3	0.96876741612568884	0.31442	0.55369	0.29847	D	AEFDBHCIJ	0.695273	0.65400	D	0.145546896504087	0.48600	3.070395	0.0174266624164014	0.40524	2.419858	0.999999991545664	0.74766	0.766844	0.99359	0	0.52208	0.09955	0	0.851219	0.99655	0	0.638787	0.57140	0	.	.	3.78	2.87	0.32523	2.151000	0.41888	.	.	-0.356000	0.05535	0.599000	0.27739	0.000000	0.08366	0.007000	0.07825	0.0:0.1918:0.8082:0.0	10.996	0.46792	862	0.33134	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;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	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.017935	0.005376	0.020492	0.032110	0.000000	0.017544	0.018634	0.011364	0.05263	3571.83	102	chr6	29943300	.	G	C	3571.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.03;DP=2298;ExcessHet=0.119;FS=0.955;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=59.93;MQRankSum=0;QD=13.28;ReadPosRankSum=1.15;SOR=0.625	GT:AD:DP:GQ:PL	0/1:83,58:141:99:1383,0,2120	17	0	2	0
chr6	30071298	30071298	T	C	exonic	RNF39	.	nonsynonymous SNV	RNF39:NM_025236:exon4:c.A1076G:p.E359G	.	425	1056	36	5	0	46	0.021316	.	.	.	2822805	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.069	.	0.0013	0.00698882	0.0043	0.0010	0.0025	0.0058	0.0043	0.0037	0.0076	0.0124	0.0024967	386	154602	rs200705517	0.0026	0.0025	0.0023	0.0028	0.0145	0.0025	0.0024	0.0119	0.0109	0.0008	0.0022	0.0202	0.0034	0.0036	0.0145	0.0015	0.0044	0.0109	0.0027	0.0027	0.0026	0.0028	0.0095	0.0025	0.0024	0.0074	0.0066	0.0006	0	0.0025	0.0225	0.0095	0.0043	0.0238	0.0018	0.0033	0.0093	0.348	0.12386	T	0.372	0.16376	T	0.0	0.02946	B	0.006	0.12133	B	0.461370	0.12387	N	0.660669	1	0.08975	N	0.1	0.08449	N	-0.52	0.70717	T	-0.77	0.21429	N	0.032	0.00825	-1.0294	0.20649	T	0.073	0.29610	T	9	0.0051576495	0.00112	T	.	.	.	0.069	0.20116	.	.	0.32980341726	0.32591	0.4892985979737355	0.48849	1.33213483434	0.83669	0.746568977833	0.73940	T	5.78E-4	0.00232	T	-0.576066	0.00204	T	-0.594988	0.13237	T	0.0012265302896953	0.00012	T	.	.	.	0.053899508	0.10267	0.11954944	0.28855	0.053899508	0.10267	0.11954944	0.28854	-2.098	0.03575	T	.	.	0.049	0.00112	B	.	.	1.341678	0.17480	13.19	0.79342732161236129	0.12699	0.01186	0.04246	N	AEFBHCI	0.023291	0.01277	N	-0.956425136926051	0.09549	0.4524285	-0.941654056973241	0.11117	0.5644133	0.999988199632191	0.51787	0.455138	0.09556	0	0.550933	0.16991	0	0.606884	0.38211	0	0.554799	0.18163	0	.	.	4.01	3.13	0.35090	-0.908000	0.04171	.	.	-0.374000	0.05429	0.000000	0.06391	0.000000	0.08366	0.037000	0.13953	0.0:0.8866:0.0:0.1134	9.058	0.35578	862	0.33134	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	0	0	1	0	0.015917	0.005319	0.017663	0.032258	0.000000	0.017544	0.015432	0.011364	0.05263	2170.83	60	chr6	30071298	.	T	C	2170.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.06;DP=822;ExcessHet=0.119;FS=1.122;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.43;ReadPosRankSum=-0.734;SOR=0.747	GT:AD:DP:GQ:PL	0/1:57,30:87:99:728,0,1467	17	0	2	0
chr6	30167192	30167192	G	A	exonic	TRIM15	.	nonsynonymous SNV	TRIM15:NM_033229:exon2:c.G398A:p.R133Q	.	436	1084	2	0	0	2	0.000921659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.201	0.0214397458715	.	0.00139776	0.0010	0	0.0003	0	0	0.0001	0	0.0065	0.0008215	127	154602	rs143173321	0.0004	0.0004	0.0002	0.0005	0.0054	0.0004	0.0003	0.0050	0.0049	2.987e-05	8.944e-05	0	0	0	0.0017	4.317e-05	0.0005	0.0054	0.0002	0.0002	7.711e-05	0.0003	0.0043	0.0001	9.697e-05	0.0029	0.0024	2.407e-05	0	0	0	0	0	0.0068	1.47e-05	0	0.0043	0.446	0.09101	T	0.464	0.12668	T	0.89	0.48942	P	0.186	0.36104	B	0.000382	0.44960	D	0.000000	1	0.08975	N	0.925	0.23481	L	-0.87	0.74583	T	-0.95	0.25332	N	0.252	0.30004	-1.0390	0.17617	T	0.062	0.25923	T	10	0.0070421994	0.00160	T	0.02144	0.44208	T	0.201	0.48592	0.657	0.79482	0.677049821194	0.67430	0.17829257791093572	0.17748	0.514590015321	0.49398	0.227050811052	0.01757	T	0.015391	0.12921	T	-0.416171	0.01810	T	-0.368243	0.37093	T	0.0238864465943413	0.01130	T	.	.	.	0.05347984	0.10128	0.06838081	0.14274	0.05347984	0.10127	0.06838081	0.14273	-5.76	0.44224	T	.	.	0.105	0.19235	B	.;.	.;.	0.990145	0.13680	10.22	0.89466229312455969	0.18821	0.02386	0.06774	N	AEFDBI	0.123171	0.23865	N	-0.6238916910853	0.18228	0.9446914	-0.684594513999427	0.17346	0.9219136	0.981776491658674	0.30309	0.603402	0.35316	0	0.548873	0.16688	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	5.27	2.45	0.28953	0.082000	0.14697	.	.	0.606000	0.46413	0.000000	0.06391	0.000000	0.08366	0.170000	0.20979	0.1903:0.1777:0.6321:0.0	4.832	0.12810	840	0.37365	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003268	0.000000	0.002717	0.015957	0.000000	0.000000	0.000000	0.007576	0.02632	1043.33	36	chr6	30167192	.	G	A	1043.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.96;DP=742;ExcessHet=0;FS=0.725;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.4;ReadPosRankSum=0.256;SOR=0.583	GT:AD:DP:GQ:PL	0/1:67,44:111:99:1057,0,1540	18	0	1	0
chr6	30948868	30948868	G	A	exonic	MUCL3	.	nonsynonymous SNV	MUCL3:NM_080870:exon2:c.G404A:p.R135Q	.	435	1049	35	3	0	41	0.0191678	.	.	.	699512	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.029	.	.	0.0179712	0.0091	0.0216	0.0053	0.0351	0	0.0055	0.0053	0.0079	0.002348	363	154602	rs138097862	0.0034	0.0032	0.0032	0.0035	0.0187	0.0033	0.0032	0.0174	0.0169	0.0187	0.0067	0.0156	0.0032	0.0007	0.0149	0.0020	0.0067	0.0094	0.0098	0.0099	0.0100	0.0096	0.0241	0.0094	0.0092	0.0229	0.0224	0.0241	0	0.0097	0.0167	0.0079	0.0011	0.0204	0.0023	0.0118	0.0095	.	.	.	0.432	0.13634	T	0.44	0.35893	B	0.045	0.24526	B	.	.	.	.	1	0.08975	N	.	.	.	1.0	0.41392	T	-0.52	0.16187	N	0.085	0.06190	-1.0439	0.16148	T	0.019	0.07986	T	9	0.0025999844	0.00040	T	.	.	.	0.029	0.06676	.	.	0.0551355673512	0.04727	0.04992561851155333	0.04935	0.650893596969	0.58354	0.174204036593	0.00052	T	0.008933	0.08161	T	-0.707615	0.00033	T	-0.771631	0.02715	T	0.00280118655006875	0.00029	T	0.590441	0.21717	T	0.030029949	0.02596	0.056276534	0.10024	0.030029949	0.02596	0.056276534	0.10024	-3.212	0.12628	T	.	.	0.134	0.29060	B	.;.;.	.;.;.	0.292356	0.06685	3.190	0.99416840104999804	0.63549	0.01466	0.04894	N	AEFDBI	0.028361	0.02483	N	-1.02887427196756	0.08008	0.3740068	-1.13747317801151	0.06995	0.3386411	0.972439218232666	0.29371	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	3.41	-1.61	0.07951	-0.182000	0.09720	.	.	-0.161000	0.11593	0.006000	0.17386	0.000000	0.08366	0.003000	0.05239	0.6545:0.0:0.3455:0.0	8.690	0.33421	923	0.18507	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.017668	0.024691	0.000000	0.015625	0.000000	0.111111	0.018987	0.012821	0.05263	3411.83	126	chr6	30948868	.	G	A	3411.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.63;DP=996;ExcessHet=0.119;FS=2.616;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.41;ReadPosRankSum=-0.02;SOR=0.554	GT:AD:DP:GQ:PL	0/1:76,74:150:99:1956,0,1821	17	0	2	0
chr6	31026275	31026275	A	0	exonic	MUC22	.	.	.	.	442	915	59	11	95	176	0.0423862	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	32631.1	654	chr6	31026275	.	A	*	32631.1	.	AC=3;AF=0.083;AN=36;BaseQRankSum=1.05;DP=9373;ExcessHet=0.6689;FS=0.527;InbreedingCoeff=0.015;MLEAC=3;MLEAF=0.083;MQ=59.99;MQRankSum=0;QD=9.33;ReadPosRankSum=-0.68;SOR=0.607	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:375,145:520:99:0|1:31026245_ACCACAGGCT_A:4929,0,15310:31026245	15	0	3	1
chr6	31028378	31028407	GAGACCACCACAGCCTCTACTGAAGGCTCC	-	exonic	MUC22	.	nonframeshift deletion	MUC22:NM_001198815:exon3:c.2947_2976del:p.T996_T1005del,MUC22:NM_001318484:exon3:c.2956_2985del:p.T999_T1008del,MUC22:NM_001322469:exon3:c.2956_2985del:p.T999_G1777delinsSASTTGSETTTASTTSSETTMASIMGSETTMASTIGSETTKVSTASSKMTTVFTENSETTIASTTASETTTVSTAGSETIPASTAGSETTTTTSTEGSETTTASTEGSETTTASTESSETTTATTIGSETTTASTEGSETTTTSTEGSETTTASTEGSEITTVSTTGSETTTASTEGSETTTASTEGSELTTVSTTGSETITVSAEGSETTTVTTMGSETTTASTAGSETTTVSTAGSETTTASIEGSETTTVSSTGSETTTVSTTGTETTITSTEGSETTTVTTAGSETTAVYTTGSETTTTSTEGSETTTVSTTGSETTTASTADLETTTVSTSGSGTTTASTAGSETTTVYITGSKTTTASTEGSEATTVSTTSSETTTASTTGSEMTTVFTTVSETTTVSTIGSEATTSSAAGSEATTTSTEGSETTTASTAGSETTTASTAGSETTTASTAGSETTTASTSGSETNTACTTGSETSTPSSAGSETNTAFIIGSETTIASTASLEPTATSLTGSETTTVSITASGATAASTTVSSTTFVLTKATDVSIQPITNTPMSGTRTTGTRLTASSSVTMAPGMDFTASAASHTVPGIVLNTSGLGTSTMGASSTTSAHGVRTTTGSTREPTSSTFQETGPVSMGTNTVSMSHTPTNVIKPSGYLQPWAIILISLAAVVAAVGLSVGLSFCLRNLFFPLRYCGIYYPHGHSHSLGLDLNLGLGSGTFHSLGNALVHGGELEMGHGGTHGFGYGVGHGLSHIHGDGYGVNHGGHYGHGGGH*	.	421	1076	24	0	1	25	0.0110294	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0151	0.0106	0.0217	0.0746	.	0	0	0.0197	0.0001153	3	26028	rs200838925	0.0052	0.0050	0.0041	0.0062	0.0383	0.0051	0.0050	0.0371	0.0367	0.0188	0.0020	0.0004	0.0362	0.0027	0.0141	0.0014	0.0075	0.0383	0.0091	0.0098	0.0082	0.0100	0.0543	0.0087	0.0085	0.0490	0.0470	0.0173	0.0044	0.0036	0	0.0543	0.0018	0.0141	0.0018	0.0086	0.0348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	8309.29	539	chr6	31028377	.	TGAGACCACCACAGCCTCTACTGAAGGCTCC	T	8309.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.46;DP=11329;ExcessHet=0;FS=0.532;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.94;MQRankSum=0.236;QD=10.15;ReadPosRankSum=0.248;SOR=0.696	GT:AD:DP:GQ:PL	0/1:491,328:819:99:8323,0,18717	18	0	1	0
chr6	31029828	31029828	A	0	exonic	MUC22	.	.	.	.	423	969	80	0	50	130	0.0396432	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	2971.99	539	chr6	31029828	.	A	*	2971.99	.	AC=3;AF=0.083;AN=36;BaseQRankSum=-1.683;DP=11989;ExcessHet=0.7564;FS=0.678;InbreedingCoeff=-0.1343;MLEAC=3;MLEAF=0.083;MQ=59.4;MQRankSum=-12.98;QD=0.84;ReadPosRankSum=-8.38;SOR=0.558	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:756,131:887:99:0|1:31029812_T_G:2460,0,30965:31029812	15	0	3	1
chr6	31029847	31029847	T	0	exonic	MUC22	.	.	.	.	427	1042	49	0	4	53	0.0229723	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	858.99	539	chr6	31029847	.	T	*	858.99	.	AC=3;AF=0.083;AN=36;BaseQRankSum=-1.771;DP=11916;ExcessHet=0.7564;FS=0.71;InbreedingCoeff=-0.1343;MLEAC=3;MLEAF=0.083;MQ=59.4;MQRankSum=-17.12;QD=0.25;ReadPosRankSum=-10.45;SOR=0.58	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:772,106:878:99:0|1:31029812_T_G:1801,0,31775:31029812	15	0	3	1
chr6	31271103	31271103	C	T	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon3:c.G589A:p.E197K,HLA-C:NM_002117:exon3:c.G589A:p.E197K	.	0	1403	119	0	0	119	0.0406838	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	.	.	.	0.1110	0.0746	0.0941	0.2012	0.1819	0.1147	0.0891	0.0572	0.0917647	14187	154602	rs1050357	0.0006	0.0078	0.0006	0.0006	0.0026	0.0005	0.0005	0.0020	0.0018	0.0003	0.0009	0.0002	0.0026	0.0004	0	0.0005	0.0004	0.0012	0.0003	0.0092	0.0002	0.0003	0.0004	0.0002	0.0001	0.0002	0.0002	0.0001	0	0	0	0	0.0002	0	0.0004	0	0	0.093	0.31532	T	0.02	0.59159	D	0.002	0.09854	B	0.006	0.12133	B	0.789762	0.09406	U	0.857122	0.426676	0.32312	P	.	.	.	5.6	0.00825	T	-3.04	0.63782	D	0.031	0.01004	-0.3665	0.73068	T	0.302	0.67297	T	9	0.0043652654	0.00089	T	.	.	.	0.227	0.52620	.	.	.	.	0.223966816434011	0.22311	0.55958892267	0.52497	0.365928024054	0.20246	T	0.015762	0.13159	T	-0.5327	0.00370	T	-0.394143	0.34067	T	0.0614167510250327	0.07389	T	0.586841	0.21439	T	.	.	.	.	.	.	.	.	-6.911	0.53380	T	.	.	0.143	0.35225	B	.;.;.	.;.;.	2.220269	0.28336	17.76	0.92642286042257171	0.22116	0.17864	0.20020	N	AEFBHCI	0.275676	0.39058	N	-0.179300595314162	0.33997	1.935281	-0.334977477670174	0.26977	1.493829	0.99999999125913	0.74766	0.766844	0.99359	0	0.672317	0.65289	0	0.851219	0.99655	0	0.638787	0.57140	0	.	.	2.71	2.71	0.31092	-0.711000	0.05121	.	.	-1.944000	0.00489	0.000000	0.06391	0.000000	0.08366	0.013000	0.09966	0.0:1.0:0.0:0.0	11.543	0.49932	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	.	.	.	.	rs145793920	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.026998	0.005051	0.021739	0.024272	0.000000	0.043103	0.045732	0.041667	0.1053	4289.43	172	chr6	31271103	.	C	T	4289.43	.	AC=4;AF=0.105;AN=38;BaseQRankSum=0.236;DP=2622;ExcessHet=0.7564;FS=2.051;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=54.29;MQRankSum=1.21;QD=8.38;ReadPosRankSum=0.539;SOR=0.541	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:130,27:157:99:.:.:702,0,5326:.	15	0	4	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	0.1667	1648.66	177	chr6	31355338	.	T	C	1648.66	.	AC=6;AF=0.167;AN=36;BaseQRankSum=-1.578;DP=3023;ExcessHet=2.0135;FS=9.688;InbreedingCoeff=-0.2064;MLEAC=6;MLEAF=0.167;MQ=58.26;MQRankSum=-11.42;QD=1.61;ReadPosRankSum=0.042;SOR=1.418	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:140,18:158:99:0|1:31355338_T_C:334,0,5713:31355338	12	0	6	1
chr6	31355425	31355425	T	C	exonic	HLA-B	.	nonsynonymous SNV	HLA-B:NM_005514:exon4:c.A787G:p.R263G	.	0	927	595	0	0	595	0.242956	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	.	.	.	0.2427	0.2221	0.2151	0.2593	0.1977	0.2427	0.2413	0.2835	3.84e-05	1	26028	rs41545916	6.978e-05	0.0017	7.287e-05	6.665e-05	0.0004	5.837e-05	5.445e-05	6.35e-05	2.683e-05	6.07e-05	6.798e-05	0.0015	0	0	0.0004	3.628e-05	0.0001	8.195e-05	0.0003	0.0048	0.0004	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0.0003	0	0.0003	0.0011	0.0003	0	0	0.0003	0.0007	0	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.001	0.04355	B	0.017476	0.27716	N	0.165679	0.986046	0.24654	N	.	.	.	4.34	0.02341	T	3.3	0.00105	N	0.051	0.02272	-1.0151	0.25304	T	0.000	0.00114	T	10	0.0015430152	0.00017	T	.	.	.	0.070	0.20419	.	.	.	.	0.3942460569328166	0.39339	0.283348990526	0.30779	.	.	.	0.019855	0.15737	T	-0.268638	0.11909	T	-0.623656	0.10901	T	0.00166754910760778	0.00017	T	0.446155	0.12501	T	0.3324303	0.55668	0.11348576	0.27388	0.3324303	0.55669	0.11348576	0.27388	2.773	0.00026	T	.	.	0.034	0.00010	B	.;.	.;.	0.246319	0.06261	2.715	0.81034162823799205	0.13487	0.00542	0.02495	N	AEFDBHCI	0.071522	0.14241	N	-1.65128738568244	0.01029	0.04464861	-1.46518231632646	0.02636	0.1215648	0.999996036317984	0.74766	0.634777	0.41761	0	0.672317	0.65289	0	0.643519	0.47002	0	0.663205	0.64265	0	.	.	3.16	1.33	0.20958	1.006000	0.29449	.	.	-1.096000	0.01523	0.050000	0.21411	0.000000	0.08366	0.043000	0.14563	0.0:0.778:0.0:0.222	7.857	0.28649	934	0.15400	Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set;Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.260000	0.227273	0.254076	0.257426	0.150000	0.267241	0.246951	0.265152	0.2105	2740.21	219	chr6	31355425	.	T	C	2740.21	.	AC=8;AF=0.211;AN=38;BaseQRankSum=-0.64;DP=3555;ExcessHet=4.0268;FS=22.975;InbreedingCoeff=-0.2667;MLEAC=8;MLEAF=0.211;MQ=58;MQRankSum=-13.22;QD=1.62;ReadPosRankSum=-0.429;SOR=1.567	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:202,45:247:99:.:.:736,0,6152:.	11	0	8	0
chr6	31356197	31356197	C	T	exonic	HLA-B	.	nonsynonymous SNV	HLA-B:NM_005514:exon3:c.G589A:p.E197K	.	8	1465	49	0	0	49	0.0164485	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.165	.	.	.	0.0189	0.0129	0.0199	0.0348	0.0234	0.0147	0.0177	0.0294	3.84e-05	1	26028	rs41545114	0.0004	0.0031	0.0003	0.0004	0.0014	0.0003	0.0003	0.0011	0.0010	0.0002	0.0014	0.0001	0.0013	0.0011	0.0003	0.0003	0.0003	0.0004	0.0004	0.0059	0.0004	0.0004	0.0007	0.0003	0.0002	0.0002	0.0001	0.0004	0	0.0007	0	0	0.0008	0	0.0003	0.0016	0	0.012	0.65419	D	0.021	0.58089	D	0.632	0.40232	P	0.417	0.44992	B	0.805050	0.09294	U	0.866418	0.896629	0.27782	N	.	.	.	5.6	0.00825	T	-3.0	0.62343	D	0.082	0.05799	-1.0564	0.12672	T	0.010	0.03492	T	10	0.0079647	0.00181	T	.	.	.	0.165	0.42395	.	.	.	.	0.2591834140118568	0.25832	0.873438287621	0.69479	.	.	.	0.016952	0.13915	T	-0.0549219	0.43696	T	-0.316668	0.42939	T	0.0505667294951351	0.05598	T	0.630337	0.25361	T	0.36580047	0.58273	0.28238165	0.54226	0.36580047	0.58274	0.28238165	0.54225	-7.553	0.57982	D	.	.	0.117	0.42433	B	.;.;.	.;.;.	3.080477	0.41440	21.4	0.94945969232258332	0.25847	0.16475	0.19406	N	AEFDBHCI	0.108565	0.21592	N	-0.152863992918151	0.35113	2.012754	-0.417645654591778	0.24479	1.340699	0.999995060563035	0.74766	0.766844	0.99359	0	0.672317	0.65289	0	0.851219	0.99655	0	0.554799	0.18163	0	.	.	3.18	1.3	0.20778	-0.350000	0.07769	.	.	0.452000	0.21348	0.000000	0.06391	0.000000	0.08366	0.060000	0.15972	0.0:0.7684:0.0:0.2316	7.479	0.26562	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	0.004956	0.000000	0.001401	0.004673	0.000000	0.000000	0.006329	0.007692	0.07895	597.79	43	chr6	31356197	.	C	T	597.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=1.94;DP=1409;ExcessHet=0.3672;FS=24.956;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=47.29;MQRankSum=-0.368;QD=2.89;ReadPosRankSum=-1.551;SOR=2.772	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:39,8:47:99:0|1:31356192_G_A:212,0,1612:31356192	16	0	3	0
chr6	31356431	31356431	G	0	exonic	HLA-B	.	.	.	.	137	311	365	102	607	1176	0.47775	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	3519.96	21	chr6	31356431	.	G	*	3519.96	.	AC=14;AF=0.368;AN=38;BaseQRankSum=2.34;DP=961;ExcessHet=2.8292;FS=1.184;InbreedingCoeff=-0.1474;MLEAC=14;MLEAF=0.368;MQ=56.06;MQRankSum=-1.664;QD=4.03;ReadPosRankSum=0.13;SOR=0.605	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,40:41:78:1|1:31356377_G_A:1800,120,0:31356377	7	2	10	0
chr6	31356716	31356717	CA	0	exonic	HLA-B	.	.	.	.	0	89	17	5	115	142	0.131707	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2632	4067.47	43	chr6	31356716	.	CA	*	4067.47	.	AC=10;AF=0.263;AN=38;BaseQRankSum=2.25;DP=1047;ExcessHet=0.3394;FS=8.086;InbreedingCoeff=0.1815;MLEAC=10;MLEAF=0.263;MQ=53.03;MQRankSum=-6.682;QD=5.84;ReadPosRankSum=-0.53;SOR=1.329	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,37:37:99:1|1:31356711_C_CGGAG:1665,111,0:31356711	11	2	6	0
chr6	31356719	31356720	GT	0	exonic	HLA-B	.	.	.	.	10	742	10	2	758	772	0.00934579	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2632	4133.47	43	chr6	31356719	.	GT	*	4133.47	.	AC=10;AF=0.263;AN=38;BaseQRankSum=1.13;DP=1058;ExcessHet=0.3394;FS=7.971;InbreedingCoeff=0.1815;MLEAC=10;MLEAF=0.263;MQ=53.9;MQRankSum=-7.228;QD=5.85;ReadPosRankSum=-1.34;SOR=1.218	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,38:38:99:1|1:31356711_C_CGGAG:1710,114,0:31356711	11	2	6	0
chr6	31356720	31356720	T	0	exonic	HLA-B	.	.	.	.	2	80	21	0	123	144	0.116022	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	2127.41	43	chr6	31356720	.	T	*	2127.41	.	AC=12;AF=0.333;AN=36;DP=1057;ExcessHet=0.0278;FS=7.087;InbreedingCoeff=0.3681;MLEAC=12;MLEAF=0.333;MQ=55.52;QD=3.57;SOR=1.198	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,38:38:99:1|1:31356711_C_CGGAG:1710,114,0:31356711	9	3	6	1
chr6	31356748	31356750	CCT	0	exonic	HLA-B	.	.	.	.	92	56	75	5	1294	1379	0.431472	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8684	754.83	150	chr6	31356748	.	CCT	*	754.83	.	AC=33;AF=0.868;AN=38;DP=2092;ExcessHet=0.7564;FS=0.797;InbreedingCoeff=-0.1176;MLEAC=33;MLEAF=0.868;MQ=52.89;QD=0.36;SOR=0.837	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,52:74:99:0|1:31356746_T_C:3107,924,767:31356746	0	14	5	0
chr6	31356827	31356827	T	0	exonic	HLA-B	.	.	.	.	73	133	388	93	835	1409	0.683333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6053	15267.6	189	chr6	31356827	.	T	*	15267.6	.	AC=23;AF=0.605;AN=38;BaseQRankSum=-0.098;DP=3185;ExcessHet=5.3738;FS=1.261;InbreedingCoeff=-0.3103;MLEAC=23;MLEAF=0.605;MQ=55.28;MQRankSum=-11.08;QD=4.9;ReadPosRankSum=-1.284;SOR=0.859	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,157:157:99:1|1:31356809_C_T:7044,473,0:31356809	3	7	9	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	.	.	.	.	.	.	.	.	0.4706	9298.23	135	chr6	31625601	.	T	C	9298.23	.	AC=16;AF=0.471;AN=34;BaseQRankSum=-2.715;DP=2550;ExcessHet=25.4433;FS=276.319;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.33;ReadPosRankSum=1.09;SOR=12.613	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:119,46:165:99:0|1:31625601_T_C:796,0,3908:31625601	1	0	16	2
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	.	.	.	.	.	.	.	.	0.4706	10016.2	136	chr6	31625602	.	G	A	10016.2	.	AC=16;AF=0.471;AN=34;BaseQRankSum=-3.692;DP=2549;ExcessHet=25.4433;FS=287.442;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.7;ReadPosRankSum=1.15;SOR=12.674	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:119,46:165:99:0|1:31625601_T_C:796,0,3908:31625601	1	0	16	2
chr6	31628018	31628018	C	T	exonic	PRRC2A	.	nonsynonymous SNV	PRRC2A:NM_004638:exon12:c.C1544T:p.P515L,PRRC2A:NM_080686:exon12:c.C1544T:p.P515L	.	424	1079	19	0	0	19	0.00872761	.	.	.	3221736	PRRC2A-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.049	.	0.0056	0.00978435	0.0070	0.0113	0.0049	0.0309	0.0009	0.0029	0.0046	0.0120	0.0064035	990	154602	rs9469031	0.0046	0.0046	0.0044	0.0048	0.0150	0.0045	0.0045	0.0140	0.0136	0.0104	0.0053	0.0017	0.0150	0.0011	0.0073	0.0036	0.0048	0.0123	0.0060	0.0060	0.0060	0.0059	0.0170	0.0057	0.0055	0.0141	0.0131	0.0112	0.0044	0.0046	0.0017	0.0170	0.0009	0.0102	0.0028	0.0062	0.0120	0.078	0.33923	T	0.033	0.53072	D	0.041	0.21357	B	0.023	0.19966	B	0.000095	0.51296	D	0.000000	0.999936	0.51612	D	1.5	0.37844	L	2.68	0.12371	T	-2.07	0.47344	N	0.179	0.20925	-1.0837	0.06646	T	0.018	0.07329	T	10	0.0035332143	0.00063	T	.	.	.	0.049	0.13647	.	.	0.043077524339	0.03247	0.27030129343339515	0.26943	0.159160048467	0.17961	0.511947453022	0.40494	T	0.028205	0.20484	T	-0.577638	0.00199	T	-0.581564	0.14405	T	0.0116022703818369	0.00176	T	0.721628	0.33490	T	0.051760938	0.09552	0.07394783	0.16124	0.051760938	0.09552	0.07394783	0.16124	-7.087	0.54667	T	.	.	0.079	0.07318	B	.;.	.;.	2.432338	0.31291	18.70	0.94184675034214371	0.24407	0.70297	0.34532	D	AEFBHCI	0.114510	0.22552	N	-0.177869129812417	0.34057	1.939399	-0.0621568434122232	0.36968	2.158373	0.999992589905816	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.38	4.38	0.52019	1.400000	0.34186	.	.	0.592000	0.32167	0.988000	0.36536	0.031000	0.21272	0.821000	0.38685	0.0:1.0:0.0:0.0	14.308	0.65953	878	0.29785	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005991	0.000000	0.004076	0.015957	0.000000	0.008772	0.006098	0.000000	0.02632	1048.33	42	chr6	31628018	.	C	T	1048.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.567;DP=867;ExcessHet=0;FS=2.992;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.27;ReadPosRankSum=-0.785;SOR=0.689	GT:AD:DP:GQ:PL	0/1:38,41:79:99:1062,0,1017	18	0	1	0
chr6	31810376	31810376	C	G	exonic	HSPA1L	.	nonsynonymous SNV	HSPA1L:NM_005527:exon2:c.G1597C:p.V533L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.00740654503432	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0021	0.0002	0.0001	0.0002	0.0001	0.0001	0.0002	0.0001	0.0002	0	0	2.525e-05	0	0	0.0002	0.0001	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.413	0.10052	T	0.161	0.31326	T	0.013	0.16609	B	0.056	0.26147	B	0.185742	0.03214	N	1.966570	1	0.08975	N	-1.105	0.00963	N	5.53	0.00894	T	-0.49	0.15578	N	0.115	0.10340	-0.9371	0.43072	T	0.001	0.00222	T	10	0.03462872	0.01678	T	0.007407	0.19657	T	0.029	0.06676	0.357	0.35897	0.371718192555	0.36778	0.15855101505881897	0.15776	0.267744745311	0.29313	0.328189313412	0.14660	T	0.004791	0.04206	T	-0.333095	0.05880	T	-0.716245	0.04979	T	0.153081059455872	0.17347	T	.	.	.	0.05782822	0.11556	0.0916961	0.21573	0.05782822	0.11556	0.0916961	0.21572	-3.124	0.11574	T	.	.	0.079	0.07365	B	.	.	-0.100834	0.03638	0.723	0.73951968360265008	0.10515	0.09685	0.15385	N	AEFBI	0.130493	0.24906	N	-1.10104396103768	0.06625	0.305511	-1.06678862214965	0.08361	0.410748	0.988801212773729	0.31633	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.55	-0.647	0.10892	-0.207000	0.09388	.	.	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.140000	0.19946	0.0:0.3308:0.2673:0.4019	5.069	0.13935	900	0.24599	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08824	324.25	143	chr6	31810376	.	C	G	324.25	.	AC=3;AF=0.088;AN=34;BaseQRankSum=-4.257;DP=2402;ExcessHet=0.3672;FS=193.172;InbreedingCoeff=-0.1207;MLEAC=3;MLEAF=0.088;MQ=60;MQRankSum=0;QD=0.75;ReadPosRankSum=1.37;SOR=10.125	GT:AD:DP:GQ:PL	0/1:108,36:148:99:188,0,2269	14	0	3	2
chr6	31811951	31811951	C	G	exonic	HSPA1L	.	nonsynonymous SNV	HSPA1L:NM_005527:exon2:c.G22C:p.A8P	.	423	1080	18	1	0	20	0.00917431	.	.	.	3199888	HSPA1L-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.320	.	0.0091	0.0127796	0.0082	0.0202	0.0056	0.0308	0.0009	0.0032	0.0045	0.0137	0.0076842	1188	154602	rs9469057	0.0050	0.0050	0.0048	0.0052	0.0180	0.0049	0.0049	0.0168	0.0163	0.0180	0.0064	0.0018	0.0149	0.0011	0.0085	0.0037	0.0056	0.0142	0.0091	0.0092	0.0093	0.0089	0.0210	0.0087	0.0086	0.0198	0.0194	0.0210	0.0044	0.0082	0.0017	0.0174	0.0009	0.0136	0.0029	0.0095	0.0126	0.001	0.78490	D	0.012	0.63918	D	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	1	0.81001	D	3.245	0.89746	M	5.35	0.01058	T	-2.43	0.53258	N	0.93	0.93487	-1.1250	0.02037	T	0.015	0.05897	T	9	0.009037763	0.00205	T	.	.	.	0.320	0.64215	.	.	0.804076220207	0.80224	0.8705451288780163	0.87020	1.08423785368	0.77231	0.65280854702	0.60385	T	0.03809	0.24714	T	-0.386849	0.02819	T	-0.307509	0.43926	T	0.0525045388649878	0.05934	T	.	.	.	0.8221863	0.85367	0.84063107	0.90880	0.8221863	0.85368	0.84063107	0.90880	-9.739	0.72335	D	.	.	0.362	0.57336	A	.	.	3.514963	0.49240	22.7	0.99572976995509554	0.72501	0.98945	0.88990	D	AEFBI	0.855076	0.77215	D	0.494829639034628	0.66786	4.995523	0.306917642470237	0.55944	3.75743	0.999999687590552	0.74766	0.660377	0.49826	0	0.596877	0.49441	0	0.696353	0.63694	0	0.567892	0.33627	0	.	.	4.6	4.6	0.56512	4.905000	0.62982	.	.	0.526000	0.24426	1.000000	0.71638	1.000000	0.68203	0.579000	0.30870	0.0:1.0:0.0:0.0	14.951	0.70724	900	0.24599	.	.	.	.	.	.	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	0.007625	0.005051	0.005435	0.010753	0.000000	0.008621	0.009146	0.000000	0.02632	1631.33	40	chr6	31811951	.	C	G	1631.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.437;DP=859;ExcessHet=0;FS=0.625;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.66;ReadPosRankSum=0.183;SOR=0.783	GT:AD:DP:GQ:PL	0/1:84,69:153:99:1645,0,1980	18	0	1	0
chr6	31862023	31862023	C	T	exonic	NEU1	.	nonsynonymous SNV	NEU1:NM_000434:exon2:c.G328A:p.A110T	Sialidosis, type I, Autosomal recessive;Sialidosis, type II, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.595	0.11304479133	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.57e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.063	0.36709	T	0.072	0.43344	T	0.998	0.73220	D	0.919	0.65474	D	0.000001	0.84330	D	0.054224	1	0.81001	D	1.995	0.54099	M	-0.75	0.73311	T	-2.75	0.58407	D	0.508	0.53972	0.118	0.84496	D	0.533	0.82689	D	10	0.80897105	0.80202	D	0.113045	0.79141	D	0.595	0.83911	0.523	0.62668	0.984789541883	0.98462	0.9052666164538027	0.90499	1.28758288876	0.82701	0.524445533752	0.42253	T	0.877027	0.97391	D	0.293553	0.82446	D	0.183892	0.82220	D	0.991393327713013	0.81685	D	.	.	.	0.5985664	0.72614	0.56361705	0.74746	0.5985664	0.72615	0.56361705	0.74747	-7.335	0.56444	T	.	.	0.341	0.55984	A	.	.	5.268264	0.88460	29.6	0.99930402034305421	0.99334	0.90837	0.52354	D	AEFDBCI	0.737721	0.68282	D	0.738400745365759	0.82147	7.691571	0.678803220781955	0.80773	7.373867	0.999999999999958	0.74766	0.72623	0.87236	0	0.594344	0.48745	0	0.581341	0.30212	0	0.638787	0.57140	0	.	.	5.09	5.09	0.68647	5.440000	0.66312	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.949000	0.49496	0.0:1.0:0.0:0.0	16.044	0.80514	906	0.23090	Sialidase	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	2486.33	35	chr6	31862023	.	C	T	2486.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.959;DP=802;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.98;ReadPosRankSum=-1.108;SOR=0.686	GT:AD:DP:GQ:PL	0/1:69,97:166:99:2500,0,1529	18	0	1	0
chr6	32089253	32089253	C	T	exonic	TNXB	.	nonsynonymous SNV	TNXB:NM_001365276:exon5:c.G2485A:p.G829S,TNXB:NM_019105:exon5:c.G2485A:p.G829S	Ehlers-Danlos syndrome due to tenascin X deficiency, Autosomal recessive;Vesicoureteral reflux 8, Autosomal dominant	0	1487	34	1	0	36	0.0119601	.	.	.	1269701	Ehlers-Danlos_syndrome|not_provided|Cardiovascular_phenotype	MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000,Orphanet:98249|MedGen:C3661900|MedGen:CN230736	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.324	0.0506389190351	0.0002	0.000399361	0.0014	0.0001	0.0003	0.0002	0.0002	0.0004	0.0036	0.0084	0.0011643	180	154602	rs147172260	0.0008	0.0008	0.0006	0.0011	0.0077	0.0008	0.0008	0.0072	0.0070	0.0002	0.0002	0.0001	0.0002	5.952e-05	0.0052	0.0004	0.0010	0.0077	0.0004	0.0004	0.0003	0.0005	0.0052	0.0003	0.0003	0.0036	0.0031	4.814e-05	0	0.0001	0.0006	0	0	0	0.0004	0.0019	0.0052	0.613	0.05420	T	0.0	0.92824	D	.	.	.	.	.	.	0.000103	0.50451	D	0.000000	0.98473	0.40186	D	.	.	.	0.0	0.62608	T	-4.65	0.79399	D	0.497	0.53006	-0.9127	0.46518	T	0.142	0.46275	T	10	0.008799136	0.00199	T	0.050639	0.64325	D	0.324	0.64624	.	.	0.358461578395	0.35455	.	.	.	.	0.578430056572	0.49865	T	0.29263	0.66535	T	-0.386751	0.02823	T	-0.323752	0.42162	T	0.0958633468784397	0.11895	T	0.715628	0.54791	T	0.43143234	0.62846	0.43191615	0.66794	0.42014903	0.62102	0.42535052	0.66346	-5.497	0.41840	T	0.12625993868028798	0.12714	0.176	0.38498	B	.;.;.;.	.;.;.;.	4.109917	0.61346	24.3	0.99811975144416765	0.89531	0.92780	0.56527	D	AEFDBI	0.608898	0.59830	D	0.25693665237549	0.53982	3.565097	0.329674899078023	0.57291	3.89425	0.999999999999063	0.74766	0.549168	0.22868	0	0.627178	0.54094	0	0.576033	0.28219	0	0.530356	0.10902	0	.	.	5.19	5.19	0.71428	2.800000	0.47595	.	.	0.599000	0.40250	0.997000	0.40164	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	16.254	0.82326	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	.	.	.	.	.	Likely benign	0	0	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	0.004907	0.000000	0.001359	0.005319	0.000000	0.000000	0.006098	0.015152	0.02632	751.33	34	chr6	32089253	.	C	T	751.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.95;DP=734;ExcessHet=0;FS=0.994;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.32;ReadPosRankSum=0.833;SOR=0.954	GT:AD:DP:GQ:PL	0/1:33,28:61:99:765,0,840	18	0	1	0
chr6	32129698	32129698	T	C	exonic	FKBPL	.	nonsynonymous SNV	FKBPL:NM_022110:exon2:c.A83G:p.N28S	.	0	1469	52	1	0	54	0.0180481	.	.	.	3220457	FKBPL-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.102	.	0.0034	0.0105831	0.0063	0.0065	0.0049	0.0301	0.0009	0.0027	0.0055	0.0116	0.0060219	931	154602	rs117160266	0.0043	0.0043	0.0042	0.0045	0.0147	0.0042	0.0042	0.0137	0.0133	0.0050	0.0056	0.0008	0.0147	0.0009	0.0075	0.0035	0.0044	0.0118	0.0045	0.0045	0.0045	0.0045	0.0176	0.0042	0.0041	0.0147	0.0136	0.0063	0.0044	0.0046	0.0003	0.0176	0.0006	0.0102	0.0027	0.0057	0.0108	0.146	0.25055	T	0.536	0.09897	T	0.118	0.26577	B	0.017	0.18140	B	0.881190	0.08754	N	0.940554	1	0.08975	N	1.04	0.26193	L	-1.33	0.79854	T	-0.45	0.14782	N	0.112	0.09914	-0.9037	0.47595	T	0.154	0.48516	T	10	0.003453523	0.00061	T	.	.	.	0.102	0.29158	.	.	0.964397502001	0.96401	0.12206054170897931	0.12133	0.343234087858	0.36255	0.339676707983	0.16389	T	0.001858	0.01270	T	-0.560478	0.00252	T	-0.557592	0.16603	T	0.00333949956713115	0.00035	T	0.476552	0.14308	T	0.03655549	0.04519	0.05028008	0.07861	0.03655549	0.04518	0.05028008	0.07861	-3.286	0.13558	T	.	.	0.098	0.16275	B	.	.	0.649570	0.10179	6.921	0.65107643235153789	0.07679	0.03055	0.07955	N	AEFGBHCI	0.070669	0.14039	N	-0.860103146306415	0.11801	0.5715824	-0.884630442497938	0.12457	0.6409084	0.999979226538229	0.50053	0.542737	0.22433	0	0.516746	0.08562	0	0.685571	0.62057	0	0.627883	0.49187	0	.	.	4.23	3.03	0.34070	0.352000	0.19851	.	.	0.665000	0.62972	0.001000	0.13787	0.003000	0.18671	0.472000	0.28386	0.202:0.0:0.0:0.798	6.979	0.23874	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	0	0	1	0	0.006536	0.000000	0.004076	0.010638	0.000000	0.008621	0.009146	0.003788	0.05263	3063.83	109	chr6	32129698	.	T	C	3063.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.47;DP=873;ExcessHet=0.119;FS=0.46;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.16;ReadPosRankSum=1.84;SOR=0.636	GT:AD:DP:GQ:PL	0/1:66,77:143:99:1916,0,1698	17	0	2	0
chr6	32149330	32149330	G	C	exonic	PRRT1	.	nonsynonymous SNV	PRRT1:NM_030651:exon4:c.C813G:p.F271L,PRRT1:NM_001363780:exon6:c.C570G:p.F190L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.517	0.148155155941	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.303	0.14352	T	0.0	0.92824	D	0.979	0.59044	D	0.973	0.72923	D	.	.	.	.	0.999619	0.47849	D	0.525	0.13617	N	-1.78	0.83737	D	-0.82	0.22508	N	0.645	0.67045	-0.4564	0.70188	T	0.305	0.67547	T	9	0.439994	0.58039	T	0.148155	0.83010	D	0.517	0.79400	0.597	0.72739	0.59450981025	0.59129	0.9585500676116478	0.95840	.	.	0.864538431168	0.91779	D	0.402142	0.75924	T	0.172013	0.71307	D	0.00930888	0.70937	D	0.766876399517059	0.44253	D	0.842016	0.51794	T	0.19066913	0.40662	0.37802637	0.62889	0.19066913	0.40661	0.37802637	0.62889	-4.665	0.49751	T	.	.	1.000	0.99395	P	.;.	.;.	3.785972	0.54463	23.5	0.99391392361005004	0.62337	0.87135	0.46584	D	AEFDBCI	0.842920	0.75998	D	0.0224924021030136	0.42879	2.591973	0.148259771449305	0.47050	2.941146	0.999999968885374	0.74766	0.652421	0.48094	0	0.610034	0.51514	0	0.64067	0.45733	0	0.56751	0.32155	0	.	.	4.99	4.12	0.47504	4.781000	0.62082	.	.	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0924:0.0:0.9076:0.0	10.970	0.46646	923	0.18507	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	182.22	127	chr6	32149330	.	G	C	182.22	.	AC=2;AF=0.071;AN=28;BaseQRankSum=-3.792;DP=1827;ExcessHet=0.119;FS=77.934;InbreedingCoeff=-0.1563;MLEAC=2;MLEAF=0.071;MQ=60;MQRankSum=0;QD=0.79;ReadPosRankSum=2.61;SOR=6.357	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:112,15:127:99:0|1:32149327_G_A:188,0,4516:32149327	12	0	2	5
chr6	32149333	32149333	G	C	exonic	PRRT1	.	nonsynonymous SNV	PRRT1:NM_030651:exon4:c.C810G:p.N270K,PRRT1:NM_001363780:exon6:c.C567G:p.N189K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.320	0.156792939211	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.882e-07	1.232e-05	1.368e-06	0	9.035e-07	0	0	.	.	0	0	0	0	0	0	9.035e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.356	0.12148	T	0.0	0.92824	D	0.997	0.70673	D	0.992	0.80445	D	.	.	.	.	0.990679	0.41211	D	0.225	0.09600	N	-1.92	0.84773	D	-0.56	0.17834	N	0.569	0.60156	-0.6100	0.64403	T	0.266	0.63759	T	9	0.29297018	0.46873	T	0.156793	0.83749	D	0.320	0.64215	0.442	0.49811	0.432604763906	0.42882	0.9495468269291918	0.94937	.	.	0.832174420357	0.86896	D	0.305599	0.67785	T	0.00976619	0.52993	T	-0.223748	0.52376	T	0.799855828285217	0.46343	D	0.846715	0.52677	T	0.090187326	0.21096	0.22930492	0.47998	0.090187326	0.21095	0.22930492	0.47997	-11.583	0.82760	D	.	.	1.000	0.99057	P	.;.	.;.	3.894575	0.56694	23.8	0.99712765615919852	0.81493	0.79475	0.39389	D	AEFDBCI	0.743137	0.68653	D	-0.297331295681822	0.29251	1.620488	-0.196946103386401	0.31649	1.793061	0.999727187316475	0.42220	0.652421	0.48094	0	0.610034	0.51514	0	0.64067	0.45733	0	0.56751	0.32155	0	.	.	4.99	0.743	0.17496	3.244000	0.51098	.	.	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.4105:0.0:0.5895:0.0	8.761	0.33831	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	.	.	.	.	.	.	.	.	0.25	195.32	117	chr6	32149333	.	G	C	195.32	.	AC=2;AF=0.25;AN=8;BaseQRankSum=-1.206;DP=1918;ExcessHet=0.119;FS=77.934;InbreedingCoeff=-0.3343;MLEAC=4;MLEAF=0.5;MQ=60;MQRankSum=0;QD=0.85;ReadPosRankSum=2.4;SOR=6.357	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:112,15:127:99:0|1:32149327_G_A:187,0,4586:32149327	2	0	2	15
chr6	32149334	32149334	T	C	exonic	PRRT1	.	nonsynonymous SNV	PRRT1:NM_030651:exon4:c.A809G:p.N270S,PRRT1:NM_001363780:exon6:c.A566G:p.N189S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.354	0.279884387657	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.242	0.17584	T	0.0	0.92824	D	0.997	0.70673	D	0.983	0.75793	D	.	.	.	.	0.999498	0.47278	D	1.24	0.30952	L	-2.01	0.85468	D	-0.63	0.18459	N	0.425	0.47487	-0.2691	0.75835	T	0.440	0.77871	T	9	0.36402738	0.52958	T	0.279884	0.90192	D	0.354	0.67510	0.418	0.45873	0.645989072673	0.64305	0.9062892947861514	0.90601	.	.	0.748579621315	0.74237	T	0.344234	0.71277	T	-0.0297985	0.47447	T	-0.28058	0.46746	T	0.798602044582367	0.46259	D	0.923008	0.71997	D	0.20115644	0.42116	0.2331584	0.48498	0.20115644	0.42116	0.2331584	0.48497	-5.308	0.40022	T	.	.	0.970	0.89480	P	.;.	.;.	4.519567	0.70844	25.6	0.998061028404575	0.89085	0.87146	0.46598	D	AEFDBCI	0.917338	0.88479	D	0.19664931557694	0.51037	3.288361	0.299307556983304	0.55498	3.712904	0.999999999659074	0.74766	0.652421	0.48094	0	0.610034	0.51514	0	0.64067	0.45733	0	0.56751	0.32155	0	.	.	4.99	4.99	0.65942	4.245000	0.58529	.	.	0.651000	0.53179	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	12.651	0.56123	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	.	.	.	.	.	.	.	.	0.125	187.25	129	chr6	32149334	.	T	C	187.25	.	AC=2;AF=0.125;AN=16;BaseQRankSum=-0.231;DP=1740;ExcessHet=0.119;FS=78.932;InbreedingCoeff=-0.2392;MLEAC=2;MLEAF=0.125;MQ=60;MQRankSum=0;QD=0.81;ReadPosRankSum=2.37;SOR=6.357	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:111,15:126:99:0|1:32149327_G_A:190,0,4570:32149327	6	0	2	11
chr6	32149335	32149335	T	C	exonic	PRRT1	.	nonsynonymous SNV	PRRT1:NM_030651:exon4:c.A808G:p.N270D,PRRT1:NM_001363780:exon6:c.A565G:p.N189D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.503	0.400916255884	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.25457	T	0.0	0.92824	D	0.997	0.70673	D	0.989	0.78396	D	.	.	.	.	0.999493	0.47278	D	2.135	0.59519	M	-2.04	0.85703	D	-1.93	0.44852	N	0.619	0.63459	-0.0745	0.80676	T	0.541	0.83061	D	9	0.75981003	0.76259	D	0.400916	0.93395	D	0.503	0.78538	0.424	0.46857	0.803059469338	0.80121	0.9647599365794287	0.96462	.	.	0.820193946362	0.85057	D	0.648274	0.89295	D	0.0859516	0.62729	D	-0.114313	0.62265	T	0.961165368556976	0.66006	D	0.866613	0.56692	D	0.26133597	0.49192	0.30988634	0.57001	0.26133597	0.49192	0.30988634	0.57001	-12.378	0.86643	D	.	.	0.997	0.96404	P	.;.	.;.	5.523751	0.91805	32	0.99762601442043608	0.85172	0.87146	0.46598	D	AEFDBCI	0.921079	0.89399	D	0.513129237172383	0.67865	5.139079	0.524206799003174	0.69622	5.386896	0.999999999659074	0.74766	0.652421	0.48094	0	0.610034	0.51514	0	0.64067	0.45733	0	0.56751	0.32155	0	.	.	4.99	4.99	0.65942	6.993000	0.76009	.	.	0.651000	0.53179	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	12.651	0.56123	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	.	.	.	.	.	.	.	.	0.05263	184.89	129	chr6	32149335	.	T	C	184.89	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.891;DP=1830;ExcessHet=0.119;FS=79.587;InbreedingCoeff=-0.0549;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=0.81;ReadPosRankSum=2.42;SOR=6.357	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:111,15:126:99:0|1:32149327_G_A:190,0,4570:32149327	17	0	2	0
chr6	32149340	32149340	G	A	exonic	PRRT1	.	nonsynonymous SNV	PRRT1:NM_030651:exon4:c.C803T:p.A268V,PRRT1:NM_001363780:exon6:c.C560T:p.A187V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.972	0.567365613894	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.78490	D	0.0	0.92824	D	0.997	0.90584	D	0.992	0.88582	D	.	.	.	.	0.999989	0.54805	D	2.54	0.74080	M	-3.35	0.94022	D	-3.87	0.72594	D	0.898	0.90476	0.923	0.96008	D	0.861	0.95383	D	9	0.95940363	0.95333	D	0.567366	0.96074	D	0.972	0.99695	0.823	0.93527	0.917865689854	0.91703	0.9923644020631984	0.99232	.	.	0.796729326248	0.81466	T	0.835489	0.96113	D	0.505881	0.94462	D	0.488887	0.94383	D	0.992065455416527	0.82458	D	0.919208	0.70896	D	0.13374771	0.31098	0.32801107	0.58694	0.13374771	0.31097	0.32801107	0.58694	-7.94	0.60660	D	.	.	0.996	0.95780	P	.;.	.;.	5.923481	0.94075	33	0.9993780266695157	0.99698	0.97115	0.72777	D	AEFDBI	0.943053	0.94840	D	0.830813058453111	0.87991	9.413316	0.794955670732566	0.89439	9.975905	0.999999999998126	0.74766	0.652421	0.48094	0	0.610034	0.51514	0	0.64067	0.45733	0	0.56751	0.32155	0	.	.	4.99	4.99	0.65942	8.760000	0.91349	.	.	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	15.785	0.78069	923	0.18507	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	185.99	132	chr6	32149340	.	G	A	185.99	.	AC=2;AF=0.071;AN=28;BaseQRankSum=-1.629;DP=1633;ExcessHet=0.119;FS=77.021;InbreedingCoeff=-0.1345;MLEAC=2;MLEAF=0.071;MQ=60;MQRankSum=0;QD=0.81;ReadPosRankSum=2.73;SOR=6.357	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:112,15:127:99:0|1:32149327_G_A:187,0,4542:32149327	12	0	2	5
chr6	32521970	32521970	G	0	exonic	HLA-DRB5	.	.	.	.	128	791	65	0	538	603	0.0394657	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3438	1395.66	11	chr6	32521970	.	G	*	1395.66	.	AC=11;AF=0.344;AN=32;BaseQRankSum=3.94;DP=3885;ExcessHet=12.1646;FS=6.428;InbreedingCoeff=-0.5081;MLEAC=12;MLEAF=0.375;MQ=54.99;MQRankSum=-8.845;QD=0.55;ReadPosRankSum=-4.685;SOR=1.058	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:45,61:106:99:0|1:32521957_G_A:2426,0,1706:32521957	5	0	11	3
chr6	32521978	32521979	GT	0	exonic	HLA-DRB5	.	.	.	.	198	662	145	14	503	676	0.115564	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3438	10871.8	10	chr6	32521978	.	GT	*	10871.8	.	AC=11;AF=0.344;AN=32;BaseQRankSum=3.86;DP=3693;ExcessHet=2.6076;FS=6.987;InbreedingCoeff=-0.1963;MLEAC=12;MLEAF=0.375;MQ=51.5;MQRankSum=-8.353;QD=4.27;ReadPosRankSum=-5.004;SOR=0.823	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,82:90:89:0|1:32521967_G_T:3779,336,89:32521967	5	0	11	3
chr6	32521981	32521981	T	0	exonic	HLA-DRB5	.	.	.	.	195	584	309	195	239	938	0.374397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1875	25650.9	11	chr6	32521981	.	T	*	25650.9	.	AC=6;AF=0.188;AN=32;BaseQRankSum=-0.318;DP=3616;ExcessHet=1.4183;FS=9.171;InbreedingCoeff=-0.0999;MLEAC=7;MLEAF=0.219;MQ=51.96;MQRankSum=-8.246;QD=10.3;ReadPosRankSum=-3.771;SOR=0.838	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,9:89:99:0|1:32521974_GC_G:3717,3359,3332:32521974	11	1	4	3
chr6	32530184	32530184	T	0	exonic	HLA-DRB5	.	.	.	.	81	232	140	96	973	1305	0.417085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6316	36204.6	117	chr6	32530184	.	T	*	36204.6	.	AC=24;AF=0.632;AN=38;BaseQRankSum=-1.048;DP=1952;ExcessHet=0.0506;FS=1.466;InbreedingCoeff=0.3091;MLEAC=24;MLEAF=0.632;MQ=55.76;MQRankSum=-11;QD=20.24;ReadPosRankSum=-1.33;SOR=0.868	GT:AD:DP:GQ:PGT:PID:PL:PS	1/0:0,29:104:99:.:.:4510,3104,2987:.	1	6	12	0
chr6	32530185	32530185	T	0	exonic	HLA-DRB5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5833	40557.0	113	chr6	32530185	.	T	*	40557.0	.	AC=21;AF=0.583;AN=36;DP=1897;ExcessHet=0.0015;FS=0.786;InbreedingCoeff=0.4685;MLEAC=22;MLEAF=0.611;MQ=55.19;QD=24.54;SOR=0.812	GT:AD:DP:GQ:PGT:PID:PL:PS	1/0:0,27:103:99:.:.:4397,3147,3048:.	2	5	11	1
chr6	32581836	32581836	G	A	exonic	HLA-DRB1	.	stopgain	HLA-DRB1:NM_002124:exon3:c.C373T:p.Q125X	.	4	1243	130	0	145	275	0.0496942	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.992e-05	0	0	0	0	1.758e-05	0	7.93e-05	.	.	.	rs17882084	0.0002	0.0028	0.0002	0.0002	0.0012	0.0002	0.0002	0.0009	0.0008	0.0002	0.0012	0.0003	0	7.98e-05	0	0.0002	0.0002	0.0001	8.823e-06	0.0005	0	1.815e-05	.	0	0	.	.	0	0	0	0	0	0.0001	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.838005	0.06982	N	1.073180	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.674	0.68169	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.263211	0.79824	D	0.140308	0.79564	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant	High	4.079196	0.60664	24.2	0.98105513147472045	0.38310	0.05555	0.11452	N	AEFDBHCI	0.337902	0.43555	N	0.0535119855739055	0.44304	2.706928	-0.352422202738623	0.26434	1.460069	0.999291314727099	0.39042	0.67177	0.52595	0	0.702456	0.74545	0	0.658983	0.55881	0	0.530356	0.10902	0	.	.	3.87	0.396	0.15532	-1.435000	0.02529	.	.	-0.542000	0.04929	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.2917:0.5886:0.1197	7.656	0.27542	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	.	.	.	.	.	.	.	.	0.05263	8002.54	429	chr6	32581836	.	G	A	8002.54	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.25;DP=7428;ExcessHet=0.3672;FS=0.727;InbreedingCoeff=-0.0857;MLEAC=2;MLEAF=0.053;MQ=57.22;MQRankSum=-8.749;QD=4.85;ReadPosRankSum=4.98;SOR=0.562	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:575,66:641:99:.:.:968,0,23912:.	17	0	2	0
chr6	32584171	32584171	G	0	exonic;splicing	HLA-DRB1;HLA-DRB1	NM_001243965:exon3:c.281+1C>0;NM_001243965:exon4:c.282-1C>0	.	.	.	212	511	370	121	308	920	0.374541	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	26525.4	396	chr6	32584171	.	G	*	26525.4	.	AC=8;AF=0.25;AN=32;BaseQRankSum=2.71;DP=4029;ExcessHet=3.0446;FS=0;InbreedingCoeff=-0.0795;MLEAC=9;MLEAF=0.281;MQ=53.9;MQRankSum=3.91;QD=8.9;ReadPosRankSum=-0.971;SOR=0.694	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:105,99:247:99:.:.:3784,0,4079:.	8	0	8	3
chr6	32584178	32584178	G	0	exonic	HLA-DRB1	.	.	.	.	53	515	203	35	716	989	0.209517	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4737	8530.17	402	chr6	32584178	.	G	*	8530.17	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-0.31;DP=4315;ExcessHet=3.6106;FS=1.159;InbreedingCoeff=-0.1709;MLEAC=18;MLEAF=0.474;MQ=53.54;MQRankSum=-3.51;QD=2.37;ReadPosRankSum=0.706;SOR=0.827	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:107,99:249:99:.:.:3778,0,4131:.	3	2	14	0
chr6	32584318	32584318	C	0	exonic	HLA-DRB1	.	.	.	.	12	1221	160	8	121	297	0.0672269	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	3227.01	536	chr6	32584318	.	C	*	3227.01	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-0.95;DP=7153;ExcessHet=1.3;FS=1.244;InbreedingCoeff=-0.1515;MLEAC=4;MLEAF=0.105;MQ=54.18;MQRankSum=-3.443;QD=1.74;ReadPosRankSum=0.027;SOR=0.792	GT:AD:DP:GQ:PL	0/1:248,20:290:93:93,0,10353	15	0	4	0
chr6	32584370	32584370	G	0	exonic	HLA-DRB1	.	.	.	.	164	387	826	46	99	1017	0.542553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	53026.9	322	chr6	32584370	.	G	*	53026.9	.	AC=15;AF=0.417;AN=36;BaseQRankSum=3.39;DP=5457;ExcessHet=0.2833;FS=5.809;InbreedingCoeff=0.0877;MLEAC=15;MLEAF=0.417;MQ=53.43;MQRankSum=-13.94;QD=10.7;ReadPosRankSum=-1.02;SOR=1.11	GT:AD:DP:GQ:PGT:PID:PL:PS	1/0:0,68:115:99:.:.:4963,1978,1762:.	3	0	15	1
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	0.1316	7491.37	357	chr6	32589684	.	A	G	7491.37	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-2.156;DP=3888;ExcessHet=1.3;FS=0.686;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=46.8;MQRankSum=0.896;QD=4.94;ReadPosRankSum=1.18;SOR=0.619	GT:AD:DP:GQ:PL	0/1:180,36:216:99:970,0,7443	14	0	5	0
chr6	32641444	32641444	G	0	exonic	HLA-DQA1	.	.	.	.	476	488	96	33	429	591	0.142355	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	8603.32	126	chr6	32641444	.	G	*	8603.32	.	AC=19;AF=0.5;AN=38;BaseQRankSum=4.16;DP=3608;ExcessHet=1.7862;FS=13.485;InbreedingCoeff=-0.0523;MLEAC=19;MLEAF=0.5;MQ=56.46;MQRankSum=-11.23;QD=2.84;ReadPosRankSum=-3.962;SOR=1	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,62:97:99:0|1:32641436_G_A:4073,1470,1283:32641436	4	4	11	0
chr6	32641445	32641445	A	0	exonic	HLA-DQA1	.	.	.	.	478	485	97	33	429	592	0.143866	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	8744.32	123	chr6	32641445	.	A	*	8744.32	.	AC=19;AF=0.5;AN=38;BaseQRankSum=5.85;DP=3609;ExcessHet=1.7862;FS=13.485;InbreedingCoeff=-0.0523;MLEAC=19;MLEAF=0.5;MQ=56.48;MQRankSum=-11.25;QD=2.89;ReadPosRankSum=-3.865;SOR=1	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,62:98:99:0|1:32641436_G_A:4115,1512,1325:32641436	4	4	11	0
chr6	32641462	32641462	G	0	exonic	HLA-DQA1	.	.	.	.	480	493	54	16	479	565	0.0802239	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5263	8228.31	130	chr6	32641462	.	G	*	8228.31	.	AC=20;AF=0.526;AN=38;DP=3714;ExcessHet=1.7862;FS=5.077;InbreedingCoeff=-0.0523;MLEAC=20;MLEAF=0.526;MQ=56.58;QD=2.65;SOR=0.805	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,53:97:99:0|1:32641436_G_A:4073,1840,1678:32641436	3	4	12	0
chr6	32641464	32641464	T	0	exonic	HLA-DQA1	.	.	.	.	475	499	54	15	479	563	0.077634	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5263	8147.31	129	chr6	32641464	.	T	*	8147.31	.	AC=20;AF=0.526;AN=38;BaseQRankSum=-1.229;DP=3714;ExcessHet=1.7862;FS=5.077;InbreedingCoeff=-0.0523;MLEAC=20;MLEAF=0.526;MQ=57.44;MQRankSum=-9.417;QD=2.64;ReadPosRankSum=-2.677;SOR=0.807	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,52:95:99:0|1:32641436_G_A:3989,1798,1639:32641436	3	4	12	0
chr6	32641501	32641501	G	0	exonic	HLA-DQA1	.	.	.	.	496	603	6	2	415	425	0.00822368	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	17426.3	154	chr6	32641501	.	G	*	17426.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=5.31;DP=3915;ExcessHet=1.7862;FS=1.137;InbreedingCoeff=-0.0523;MLEAC=19;MLEAF=0.5;MQ=58.28;MQRankSum=-6.588;QD=5.23;ReadPosRankSum=1.7;SOR=0.748	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,45:126:99:0|1:32641501_G_*:5336,3404,3266:32641501	4	4	11	0
chr6	32641522	32641522	A	0	exonic	HLA-DQA1	.	.	.	.	497	607	54	19	345	437	0.0704441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	18488.6	155	chr6	32641522	.	A	*	18488.6	.	AC=19;AF=0.5;AN=38;BaseQRankSum=4.13;DP=4106;ExcessHet=1.7862;FS=3.314;InbreedingCoeff=-0.0523;MLEAC=19;MLEAF=0.5;MQ=58.48;MQRankSum=-6.247;QD=5.33;ReadPosRankSum=2.42;SOR=0.982	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,39:130:99:0|1:32641501_G_*:6049,3858,3678:32641501	4	4	11	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	.	.	.	.	.	.	.	.	0.1316	18488.6	155	chr6	32641522	.	A	G	18488.6	.	AC=5;AF=0.132;AN=38;BaseQRankSum=4.13;DP=4106;ExcessHet=1.7862;FS=3.314;InbreedingCoeff=-0.0523;MLEAC=5;MLEAF=0.132;MQ=58.48;MQRankSum=-6.247;QD=5.33;ReadPosRankSum=2.42;SOR=0.982	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,91:130:99:0|1:32641501_G_*:6049,1676,1340:32641501	15	1	3	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	.	.	.	.	.	.	.	.	0.1842	103383.0	261	chr6	32664917	.	C	A	103383.0	.	AC=7;AF=0.184;AN=38;BaseQRankSum=0.913;DP=4733;ExcessHet=1.7862;FS=2.506;InbreedingCoeff=-0.0523;MLEAC=7;MLEAF=0.184;MQ=59.58;MQRankSum=-0.09;QD=25.85;ReadPosRankSum=0.279;SOR=0.819	GT:AD:DP:GQ:PGT:PID:PL:PS	1/0:0,17:173:99:.:.:7309,6477,6403:.	12	0	7	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	.	.	.	.	.	.	.	.	0.1842	5027.38	268	chr6	32664926	.	G	A	5027.38	.	AC=7;AF=0.184;AN=38;BaseQRankSum=5.58;DP=4649;ExcessHet=2.9153;FS=1.642;InbreedingCoeff=-0.2258;MLEAC=7;MLEAF=0.184;MQ=58.8;MQRankSum=-9.658;QD=3.27;ReadPosRankSum=-3.733;SOR=0.819	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:156,27:183:99:0|1:32664926_G_A:664,0,6469:32664926	12	0	7	0
chr6	32666525	32666525	A	0	exonic	HLA-DQB1	.	.	.	.	0	4	73	139	10	361	0.977716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	62620.1	118	chr6	32666525	.	A	*	62620.1	.	AC=5;AF=0.132;AN=38;BaseQRankSum=0.825;DP=1761;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=30.4;ReadPosRankSum=-0.601;SOR=0.589	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:0,54:91:99:.:.:3801,1464,1289:.	15	1	3	0
chr6	32761662	32761662	T	C	exonic	HLA-DQB2	.	nonsynonymous SNV	HLA-DQB2:NM_001198858:exon2:c.A362G:p.Q121R,HLA-DQB2:NM_001300790:exon2:c.A362G:p.Q121R	.	2	1473	47	0	0	47	0.0157033	0.0001	0.004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.0059641038352	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs200476184	0	3.078e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.033759	0.01776	N	19.986600	1	0.08975	N	.	.	.	6.27	0.00562	T	3.0	0.00141	N	0.023	0.00407	-0.9338	0.43575	T	0.000	0.00039	T	10	0.019150287	0.00424	T	0.005964	0.15549	T	0.034	0.08419	.	.	0.0401082797425	0.02173	0.40803926276161073	0.40719	0.537570943843	0.51054	.	.	.	0.003424	0.02829	T	-0.31191	0.07580	T	-0.685813	0.06634	T	0.0374444062687312	0.03234	T	.	.	.	.	.	.	.	.	.	.	.	-3.597	0.17813	T	.	.	0.054	0.00321	B	.;.;.	.;.;.	0.105766	0.05063	1.604	0.098461244159509104	0.00110	0.00274	0.01486	N	AEFBCI	0.033796	0.04074	N	-1.88135563927435	0.00375	0.01611246	-1.82622069783553	0.00679	0.03020014	0.00126707100553648	0.08390	0.634777	0.41761	0	0.643519	0.57511	0	0.59043	0.30614	0	0.530356	0.10902	0	.	.	3.43	-2.33	0.06340	-0.106000	0.10860	.	.	-0.385000	0.05372	0.006000	0.17386	0.000000	0.08366	0.052000	0.15357	0.1689:0.2945:0.0:0.5367	4.538	0.11444	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	0.013064	0.000000	0.027692	0.000000	0.000000	0.027778	0.006410	0.012821	0.02632	51.33	68	chr6	32761662	.	T	C	51.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.238;DP=1078;ExcessHet=0;FS=3.673;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.93;MQRankSum=-8.152;QD=0.75;ReadPosRankSum=0.419;SOR=0.23	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:62,6:68:65:0|1:32761632_A_G:65,0,2510:32761632	18	0	1	0
chr6	32838190	32838190	A	G	exonic	TAP2	.	nonsynonymous SNV	TAP2:NM_001290043:exon2:c.T44C:p.V15A,TAP2:NM_018833:exon2:c.T44C:p.V15A	Bare lymphocyte syndrome, type I, due to TAP2 deficiency, Autosomal recessive;Wegener-like granulomatosis (3)	3	1475	43	1	0	45	0.015025	.	.	.	363959	MHC_class_I_deficiency|not_provided	MONDO:MONDO:0011476,MedGen:C1858266,OMIM:PS604571,Orphanet:34592|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.375	.	0.0096	0.00878594	0.0051	0.0232	0.0020	0.0011	0.0003	0.0014	0.0038	0.0188	0.0044307	685	154602	rs55827768	0.0027	0.0027	0.0023	0.0031	0.0239	0.0026	0.0026	0.0225	0.0219	0.0239	0.0025	0.0003	0.0009	7.746e-05	0.0176	0.0013	0.0034	0.0149	0.0079	0.0080	0.0077	0.0080	0.0222	0.0075	0.0074	0.0210	0.0205	0.0222	0	0.0034	0.0003	0.0016	0	0.0205	0.0020	0.0087	0.0135	0.156	0.24090	T	0.607	0.07919	T	0.0	0.02946	B	0.0	0.01387	B	0.029026	0.01695	N	2.963350	.	.	.	-1.09	0.01018	N	-0.17	0.89430	T	-0.55	0.17624	N	0.058	0.03283	-0.8422	0.52500	T	0.106	0.38661	T	9	0.0048670173	0.00104	T	.	.	.	0.375	0.69358	.	.	0.12205267543	0.11705	0.3536502454149823	0.35279	0.544725754754	0.51518	0.561443984509	0.47472	T	0.050885	0.28723	T	-0.330553	0.06070	T	-0.230008	0.51771	T	0.00156613741159322	0.00016	T	0.591441	0.21800	T	0.02480374	0.01349	0.09237375	0.21765	0.02480374	0.01349	0.09237375	0.21765	-3.706	0.19791	T	.	.	0.061	0.01309	B	.;.;.;.	.;.;.;.	0.986896	0.13646	10.18	0.52241751892269228	0.04711	0.02510	0.07004	N	AEFDGBHCI	0.027632	0.02291	N	-1.91220650019428	0.00324	0.0139159	-1.89227232899798	0.00507	0.02247004	0.999999999999994	0.74766	0.72623	0.87236	0	0.52208	0.09955	0	0.594344	0.31042	0	0.372554	0.06265	0	.	.	4.9	-6.99	0.01449	0.127000	0.15617	.	.	-0.720000	0.03816	0.000000	0.06391	0.000000	0.08366	0.031000	0.13245	0.1696:0.2447:0.5857:0.0	9.966	0.40894	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	1	0	0.020697	0.010101	0.033967	0.015957	0.050000	0.008772	0.006098	0.015152	0.05263	1567.83	34	chr6	32838190	.	A	G	1567.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.33;DP=688;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=16.33;ReadPosRankSum=1.01;SOR=0.69	GT:AD:DP:GQ:PL	0/1:23,35:58:99:880,0,470	17	0	2	0
chr6	32843017	32843017	T	A	exonic	PSMB8	.	nonsynonymous SNV	PSMB8:NM_004159:exon2:c.A208T:p.T70S,PSMB8:NM_148919:exon2:c.A220T:p.T74S	Autoinflammation, lipodystrophy, and dermatosis syndrome, Autosomal recessive	0	1475	46	1	0	48	0.0160107	.	.	.	455616	not_provided|Proteasome-associated_autoinflammatory_syndrome_1|Proteosome-associated_autoinflammatory_syndrome|not_specified|Autoinflammatory_syndrome	MedGen:C3661900|MONDO:MONDO:0054698,MedGen:C4746851,OMIM:256040,Orphanet:2615,Orphanet:324977,Orphanet:324999,Orphanet:325004|MONDO:MONDO:0009726,MedGen:C1850568,OMIM:PS256040,Orphanet:324977|MedGen:CN169374|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.643	.	0.0092	0.00838658	0.0050	0.0216	0.0018	0.0011	0.0003	0.0013	0.0046	0.0160	0.0042626	659	154602	rs17220206	0.0027	0.0027	0.0023	0.0030	0.0214	0.0026	0.0026	0.0201	0.0196	0.0214	0.0023	0.0003	0.0009	5.734e-05	0.0166	0.0013	0.0035	0.0150	0.0075	0.0075	0.0074	0.0076	0.0206	0.0071	0.0070	0.0195	0.0190	0.0206	0	0.0034	0.0003	0.0015	0	0.0204	0.0020	0.0081	0.0133	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.605	0.76211	M	0.59	0.53943	T	-3.53	0.69477	D	0.858	0.85449	-0.0332	0.81562	T	0.384	0.73988	T	10	0.017019004	0.00361	T	.	.	.	0.643	0.86435	0.89	0.97320	0.885233339979	0.88410	0.8480556800380565	0.84766	1.4400113835	0.85953	0.61978495121	0.55699	T	0.246082	0.62314	T	-0.319012	0.06978	T	-0.214759	0.53240	T	0.0301341989451897	0.02010	T	.	.	.	0.68950045	0.77485	0.583038	0.75826	0.83828247	0.86487	0.6417363	0.79067	-7.497	0.58450	T	.	.	0.661	0.75421	P	.;.;.	.;.;.	4.690035	0.75145	26.3	0.99768579147479963	0.85666	0.97844	0.77553	D	AEFDBHCI	0.893998	0.83252	D	0.936276874824718	0.93419	12.028	0.879112616932269	0.94596	12.88621	0.99999999999936	0.74766	0.740716	0.97744	0	0.672317	0.65289	0	0.0	0.00061	3	0.714379	0.83352	0	.	.	5.91	5.91	0.95240	7.197000	0.77336	.	.	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.894000	0.43146	0.0:0.0:0.0:1.0	14.295	0.65858	934	0.15400	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.019063	0.010101	0.031250	0.010638	0.050000	0.008621	0.006098	0.015152	0.05263	3964.83	41	chr6	32843017	.	T	A	3964.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.26;DP=898;ExcessHet=0.119;FS=0.979;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=15.99;ReadPosRankSum=0.261;SOR=0.612	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:66,53:119:99:0|1:32843015_G_T:1920,0,2601:32843015	17	0	2	0
chr6	33186589	33186589	G	T	exonic	COL11A2	.	nonsynonymous SNV	COL11A2:NM_001163771:exon5:c.C836A:p.P279H	Deafness, autosomal dominant 13, Autosomal dominant;Deafness, autosomal recessive 53, Autosomal recessive;Fibrochondrogenesis 2, Autosomal recessive, Autosomal dominant;Otospondylomegaepiphyseal dysplasia, Autosomal recessive;Stickler syndrome, type III, Autosomal dominant;Weissenbacher-Zweymuller syndrome, Autosomal dominant	0	1505	17	0	0	17	0.00561612	.	.	.	174375	not_specified|not_provided|COL11A2-related_disorder	MedGen:CN169374|MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.024	0.00210176183154	0.0002	0.000998403	0.0009	9.63e-05	0.0003	0.0005	0.0003	0.0003	0	0.0047	0.0007956	123	154602	rs200989046	0.0005	0.0005	0.0004	0.0006	0.0039	0.0005	0.0005	0.0036	0.0035	2.987e-05	0.0002	0	0.0004	0.0001	0.0024	0.0003	0.0009	0.0039	0.0003	0.0003	0.0002	0.0003	0.0044	0.0002	0.0002	0.0029	0.0025	2.406e-05	0	0.0003	0	0.0002	0	0	0.0002	0.0005	0.0044	0.0	0.91255	D	0.066	0.44501	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.8	0.25344	T	-1.1	0.28497	N	0.1	0.08227	-0.9548	0.40131	T	0.009	0.03140	T	9	0.0033665001	0.00059	T	0.002102	0.03882	T	0.024	0.04979	.	.	0.0675242888579	0.06100	.	.	.	.	.	.	.	.	.	.	-0.673149	0.00053	T	-0.740546	0.03868	T	0.010253746062921	0.00139	T	.	.	.	.	.	.	.	.	.	.	.	-4.807	0.34673	T	.	.	0.077	0.06433	B	.	.	1.263187	0.16614	12.65	0.94001232920272193	0.24095	0.02947	0.07774	N	AEFBI	0.097567	0.19676	N	-1.11829565748072	0.06317	0.2904894	-1.1517873579055	0.06736	0.3252367	0.888800312144104	0.25798	0.549168	0.22868	0	0.59043	0.45803	0	0.602189	0.34648	0	0.616125	0.45549	0	.	.	3.26	-2.39	0.06223	-0.423000	0.07102	0.515000	0.19114	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.732000	0.35165	0.2234:0.3279:0.28:0.1687	1.025	0.01430	824	0.40336	.	.	.	.	.	.	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	0.000545	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	983.33	34	chr6	33186589	.	G	T	983.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.047;DP=722;ExcessHet=0;FS=1.666;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.55;ReadPosRankSum=0.161;SOR=0.882	GT:AD:DP:GQ:PL	0/1:61,42:103:99:997,0,1597	18	0	1	0
chr6	33199368	33199368	A	G	exonic	RXRB	.	nonsynonymous SNV	RXRB:NM_001270401:exon2:c.T284C:p.V95A,RXRB:NM_021976:exon2:c.T284C:p.V95A	.	431	1064	26	1	0	28	0.012987	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.208	.	0.0006	0.0139776	0.0058	0.0160	0	0.0125	0	0.0006	0	0.0333	0.0012419	192	154602	rs17847931	0.0020	0.0020	0.0019	0.0020	0.0377	0.0019	0.0019	0.0355	0.0346	0.0160	0.0057	0.0006	0.0140	8.416e-05	0.0046	0.0004	0.0049	0.0377	0.0062	0.0065	0.0057	0.0067	0.0349	0.0058	0.0057	0.0303	0.0286	0.0157	0	0.0027	0.0006	0.0101	0	0.0109	0.0006	0.0043	0.0349	0.995	0.02581	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.012091	0.01326	N	2.850110	1	0.08975	N	-0.205	0.04094	N	-2.94	0.91903	D	0.13	0.05604	N	0.059	0.03069	-0.6069	0.64532	T	0.256	0.62643	T	10	0.0019133389	0.00026	T	.	.	.	0.208	0.49714	.	.	0.20808081866	0.20439	0.06950472447010643	0.06888	0.546012608631	0.51609	0.575300216675	0.49424	T	0.270554	0.64283	T	-0.449196	0.01142	T	-0.401095	0.33256	T	0.000488318452380952	0.00004	T	.	.	.	0.026952919	0.01819	0.046170585	0.06377	0.026952919	0.01819	0.046170585	0.06377	-1.741	0.02339	T	.	.	0.075	0.05711	B	.;.	.;.	1.649483	0.21048	15.03	0.83597542414309567	0.14813	0.06152	0.12133	N	AEFDB	0.077354	0.15583	N	-1.11139888602517	0.06439	0.2964297	-1.06839319662492	0.08328	0.4089995	0.999960502074444	0.48965	0.660085	0.49399	0	0.685571	0.66316	0	0.662677	0.59975	0	0.638787	0.57140	0	.	.	4.88	-1.76	0.07574	0.436000	0.21244	3.301000	0.37383	0.672000	0.70159	0.000000	0.06391	0.378000	0.24602	0.869000	0.41347	0.3129:0.5247:0.1624:0.0	5.840	0.17882	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	0.015385	0.000000	0.015957	0.007143	0.000000	0.025641	0.003846	0.026786	0.02632	588.33	37	chr6	33199368	.	A	G	588.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.29;DP=699;ExcessHet=0;FS=6.334;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.01;ReadPosRankSum=0.261;SOR=1.648	GT:AD:DP:GQ:PL	0/1:26,23:49:99:602,0,671	18	0	1	0
chr6	33398031	33398031	G	T	exonic	KIFC1	.	nonsynonymous SNV	KIFC1:NM_002263:exon2:c.G15T:p.R5S	.	436	1079	6	1	0	8	0.00369344	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.169	0.0408002539923	0.0033	0.00239617	0.0022	0.0009	0.0007	0.0002	0.0011	0.0031	0.0022	0.0019	0.0023415	362	154602	rs142060160	0.0034	0.0034	0.0034	0.0033	0.0039	0.0033	0.0032	0.0038	0.0038	0.0004	0.0005	0.0001	0.0001	0.0010	0.0014	0.0039	0.0046	0.0019	0.0022	0.0022	0.0025	0.0018	0.0038	0.0020	0.0019	0.0034	0.0033	0.0007	0	0.0011	0	0	0.0009	0	0.0038	0.0014	0.0025	0.0	0.91255	D	0.0	0.92824	D	0.816	0.45573	P	0.245	0.38823	B	0.005441	0.32788	N	0.323357	0.998133	0.22332	N	2.175	0.60977	M	-0.85	0.74371	T	0.08	0.40850	N	0.442	0.48042	-0.9955	0.31164	T	0.112	0.40168	T	10	0.004797846	0.00101	T	0.041	0.59575	D	0.169	0.43123	0.146	0.04941	0.745510952687	0.74321	0.2784644046163482	0.27759	0.827371786703	0.67469	0.415921032429	0.27274	T	0.015455	0.12960	T	-0.311614	0.07607	T	-0.218193	0.52911	T	0.0491252533901915	0.05345	T	0.731327	0.34690	T	0.08172484	0.18793	0.053742945	0.09111	0.08172484	0.18793	0.053742945	0.09111	-3.675	0.18950	T	.	.	0.155	0.76596	B	.;.	.;.	1.515352	0.19464	14.28	0.99240047914648011	0.56501	0.31873	0.24446	N	AEFDBI	0.139556	0.26119	N	-0.344683889422701	0.27467	1.507256	-0.394668599427259	0.25154	1.381696	0.913683791235554	0.26431	0.732398	0.92422	0	0.697927	0.68747	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.78	2.93	0.33092	0.560000	0.23204	2.239000	0.31595	-0.113000	0.14837	0.645000	0.28128	0.999000	0.35428	0.003000	0.05239	0.2325:0.0:0.7675:0.0	6.399	0.20833	375	0.84013	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	655.33	35	chr6	33398031	.	G	T	655.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.994;DP=671;ExcessHet=0;FS=1.093;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.3;ReadPosRankSum=-0.283;SOR=0.93	GT:AD:DP:GQ:PL	0/1:33,25:58:99:669,0,920	18	0	1	0
chr6	33689248	33689248	C	G	exonic	ITPR3	.	nonsynonymous SNV	ITPR3:NM_002224:exon50:c.C6705G:p.D2235E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.206	0.0388001866378	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.163e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.284	0.32165	B	0.315	0.41566	B	0.020761	0.26970	N	0.409832	0.660212	0.33045	D	1.79	0.46772	L	-2.94	0.91851	D	-0.13	0.08971	N	0.321	0.36779	-0.5299	0.67545	T	0.439	0.77796	T	10	0.16395119	0.30685	T	0.039	0.58435	D	0.206	0.49396	0.295	0.25881	0.784046768011	0.78204	0.5879224915502999	0.58722	0.77231500373	0.64831	0.420532405376	0.27909	T	0.254985	0.62572	T	-0.0955059	0.37167	T	-0.374964	0.36310	T	0.253946721553802	0.23049	T	0.691131	0.30052	T	0.026004007	0.01604	0.035612036	0.02847	0.026004007	0.01604	0.035612036	0.02846	-3.192	0.12383	T	.	.	0.149	0.33435	B	.;.	.;.	2.499035	0.32255	18.99	0.56063136389726453	0.05473	0.92282	0.55354	D	AEFBI	0.317708	0.42162	N	-0.53890461324152	0.20833	1.101212	-0.387920611399438	0.25355	1.393923	0.997972987482925	0.36262	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.31	3.55	0.39770	0.282000	0.18587	1.116000	0.24201	-0.197000	0.09056	0.978000	0.35038	1.000000	0.68203	0.961000	0.51904	0.0:0.7068:0.0:0.2932	8.277	0.31041	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	.	.	.	.	.	.	.	.	0.05263	68.97	35	chr6	33689248	.	C	G	68.97	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-5.413;DP=1738;ExcessHet=0.119;FS=154.562;InbreedingCoeff=-0.056;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=0.22;ReadPosRankSum=1.75;SOR=10.048	GT:AD:DP:GQ:PL	0/1:120,27:159:15:15,0,2691	17	0	2	0
chr6	34528877	34528877	G	C	exonic	PACSIN1	.	nonsynonymous SNV	PACSIN1:NM_001199583:exon4:c.G456C:p.E152D,PACSIN1:NM_020804:exon4:c.G456C:p.E152D	.	.	.	.	.	.	.	.	1.0000	0.978	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.244	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	0.28646	T	0.165	0.30926	T	0.553	0.38185	P	0.083	0.29179	B	0.000002	0.62929	D	0.057166	1	0.81001	D	2.38	0.68558	M	2.41	0.48142	T	-1.81	0.42575	N	0.616	0.64223	-1.0078	0.27603	T	0.071	0.28969	T	10	0.4428772	0.58213	T	0.024482	0.47468	T	0.244	0.55061	0.294	0.25720	0.603040811188	0.59987	0.16305492827728518	0.16225	0.503798904839	0.48685	0.678037703037	0.63986	T	0.217569	0.58004	T	-0.0396076	0.46008	T	-0.29467	0.45284	T	0.786065635174898	0.45434	D	0.929307	0.73951	D	0.41346648	0.61654	0.24255277	0.49678	0.41346648	0.61655	0.24255277	0.49677	-4.274	0.27811	T	.	.	0.186	0.41572	B	.;.;.;.	.;.;.;.	6.345052	0.95053	34	0.99146723813992677	0.53682	0.99349	0.94855	D	AEFBI	0.935786	0.93115	D	0.223423782744756	0.52335	3.408396	0.272362554212518	0.53931	3.559894	0.999999999990351	0.74766	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.542086	0.14980	0	.	.	3.78	3.78	0.42629	9.911000	0.98680	11.737000	0.95113	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.969000	0.54022	0.0:0.0:1.0:0.0	15.812	0.78346	632	0.64850	F-BAR domain|PACSIN1, F-BAR;F-BAR domain;F-BAR domain|PACSIN1, F-BAR;F-BAR domain|PACSIN1, F-BAR	.	.	.	.	.	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	96.17	69	chr6	34528877	.	G	C	96.17	.	AC=2;AF=0.071;AN=28;BaseQRankSum=-1.296;DP=1206;ExcessHet=0.119;FS=95.299;InbreedingCoeff=-0.1345;MLEAC=3;MLEAF=0.107;MQ=60;MQRankSum=0;QD=0.79;ReadPosRankSum=0.622;SOR=7.062	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:43,12:55:48:0|1:34528877_G_C:48,0,1263:34528877	12	0	2	5
chr6	34528878	34528878	G	C	splicing	PACSIN1	NM_020804:exon4:c.456+1G>C;NM_001199583:exon4:c.456+1G>C	.	.	.	.	.	.	.	.	.	.	1.0000	0.906	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.999e-06	0.0002	8.365e-06	5.622e-06	9.215e-06	3.54e-06	2.58e-06	4.66e-06	3.4e-06	0	0	0	0	0	0	9.215e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.248786	0.78487	D	0.119587	0.78208	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	7.107861	0.96150	35	0.99376011016101284	0.61671	0.99663	0.98459	D	AEFBI	.	.	.	0.983139481429135	0.95203	13.40136	0.770643117215695	0.87689	9.309817	0.999999999960085	0.74766	0.078448	0.01964	0	0.097471	0.02872	0	0.083675	0.02720	0	0.058706	0.01089	0	0.938909	0.59992	3.65	3.65	0.40985	9.429000	0.96714	11.737000	0.95113	0.616000	0.49467	1.000000	0.71638	1.000000	0.68203	0.954000	0.50415	0.0:0.0:1.0:0.0	15.531	0.75701	632	0.64850	.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.3929	1348.65	63	chr6	34528878	.	G	C	1348.65	.	AC=11;AF=0.393;AN=28;BaseQRankSum=-0.071;DP=1240;ExcessHet=8.9063;FS=128.695;InbreedingCoeff=-0.5447;MLEAC=13;MLEAF=0.464;MQ=60;MQRankSum=0;QD=2.09;ReadPosRankSum=0.798;SOR=10.678	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:43,12:55:48:0|1:34528877_G_C:48,0,1263:34528877	3	0	11	5
chr6	35779456	35779456	G	A	exonic	CLPSL2	.	nonsynonymous SNV	CLPSL2:NM_001286550:exon4:c.G388A:p.D130N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.00313799951246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	.	.	.	0.999	0.77913	D	0.961	0.70482	D	0.058808	0.22372	N	0.226337	1	0.20203	N	.	.	.	.	.	.	-0.5	0.15782	N	0.195	0.21449	-1.0273	0.21331	T	0.130	0.44048	T	8	0.1970444	0.35620	T	0.003138	0.06845	T	0.056	0.15993	0.296	0.26041	0.144782658237	0.14088	0.047918421383353844	0.04734	.	.	.	.	.	.	.	.	-0.244838	0.14738	T	-0.58947	0.13711	T	0.775390446186066	0.44766	D	0.39886	0.10126	T	.	.	.	.	.	.	.	.	-4.518	0.31123	T	.	.	0.150	0.33179	B	.	.	0.772768	0.11430	8.036	0.98061932687457942	0.37952	0.11259	0.16515	N	AEFDBI	0.034835	0.04386	N	-0.160290012090263	0.34798	1.990676	-0.389480903430149	0.25309	1.391075	4.54852888048872E-5	0.03989	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	3.44	2.56	0.29842	1.273000	0.32724	1.150000	0.24473	0.526000	0.24426	0.054000	0.21560	0.009000	0.19889	0.067000	0.16453	0.0:0.0:0.7655:0.2345	8.288	0.31102	501	0.75956	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1293.33	46	chr6	35779456	.	G	A	1293.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.084;DP=823;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.11;ReadPosRankSum=0.886;SOR=0.674	GT:AD:DP:GQ:PL	0/1:83,59:142:99:1307,0,2008	18	0	1	0
chr6	36323307	36323307	G	A	exonic	BNIP5	.	nonsynonymous SNV	BNIP5:NM_001010903:exon8:c.C1457T:p.T486I	.	431	1082	9	0	0	9	0.00414174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	.	0.0005	0.0181709	0.0083	0.0006	0.0116	0.0309	0.0027	0.0005	0.0099	0.0325	0.0076196	1178	154602	rs140941189	0.0035	0.0035	0.0027	0.0044	0.0331	0.0034	0.0034	0.0317	0.0311	0.0003	0.0087	0	0.0331	0.0033	0.0012	0.0002	0.0052	0.0316	0.0032	0.0032	0.0023	0.0041	0.0368	0.0030	0.0029	0.0326	0.0309	0.0004	0	0.0031	0	0.0368	0.0031	0	0.0004	0.0028	0.0344	0.713	0.04008	T	0.512	0.10750	T	0.002	0.09854	B	0.001	0.04355	B	0.159692	0.03028	N	1.671760	1	0.08975	N	0.455	0.12820	N	1.28	0.35960	T	0.25	0.04456	N	0.209	0.23253	-1.0541	0.13278	T	0.022	0.09421	T	10	0.0017086267	0.00021	T	.	.	.	0.010	0.01040	.	.	0.0297737177859	0.01360	0.12373059637144809	0.12299	0.0863729227571	0.09749	.	.	.	0.015179	0.12784	T	-0.717039	0.00029	T	-0.771337	0.02725	T	0.00406352300113952	0.00043	T	0.487551	0.14930	T	0.027163245	0.01869	0.035906404	0.02933	0.027163245	0.01868	0.035906404	0.02933	-2.035	0.03315	T	.	.	0.087	0.11269	B	.	.	0.592708	0.09614	6.385	0.96939371585618117	0.31692	0.00656	0.02847	N	ALL	0.026720	0.02056	N	-1.11022175107038	0.06461	0.2974658	-1.11753602390427	0.07365	0.3579687	0.97336147153036	0.29449	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.59	-1.39	0.08526	-0.215000	0.09284	-0.656000	0.08004	0.618000	0.50648	0.000000	0.06391	0.000000	0.08366	0.989000	0.64315	0.4751:0.1668:0.3581:0.0	4.668	0.12061	840	0.37365	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004028	0.000000	0.000000	0.002924	0.000000	0.008621	0.000000	0.011364	0.02632	794.33	34	chr6	36323307	.	G	A	794.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.185;DP=701;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.68;ReadPosRankSum=0.129;SOR=0.801	GT:AD:DP:GQ:PL	0/1:36,32:68:99:808,0,1045	18	0	1	0
chr6	36721879	36721879	C	T	exonic	RAB44	.	nonsynonymous SNV	RAB44:NM_001257357:exon9:c.C1745T:p.P582L	.	433	1083	6	0	0	6	0.00276243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000399361	0.0006	0	0	0	0	0	0	0.0088	9.06e-05	14	154602	rs569928527	0.0004	0.0003	0.0004	0.0004	0.0110	0.0004	0.0004	0.0086	0.0077	0.0004	0.0006	0.0014	7.535e-05	0.0001	0.0110	0.0003	0.0005	0.0021	0.0005	0.0005	0.0004	0.0005	0.0012	0.0004	0.0003	0.0005	0.0004	0.0004	0	0.0004	0.0006	0.0002	0	0	0.0006	0.0009	0.0012	.	.	.	0.376	0.16182	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.064	0.03613	.	.	.	.	.	.	.	0.004548669	0.00094	T	.	.	.	.	.	.	.	0.42069145522	0.41685	0.17414570630299972	0.17333	.	.	0.294509768486	0.09585	T	.	.	.	-0.453365	0.01079	T	-0.55694	0.16665	T	.	.	.	0.461354	0.13375	T	0.040594134	0.05823	0.07634969	0.16900	0.040594134	0.05823	0.07634969	0.16900	-4.264	0.27669	T	.	.	0.077	0.06205	B	.	.	-0.448802	0.02037	0.184	0.8909027519517525	0.18503	0.01790	0.05598	N	AEFDBCI	0.035238	0.04501	N	.	.	.	.	.	.	0.90534829990739	0.26202	0.078448	0.01964	0	0.097471	0.02872	0	0.074216	0.02223	0	0.079188	0.02158	0	.	.	3.88	-4.1	0.03674	-1.637000	0.02117	-10.830000	0.00661	-0.202000	0.08738	0.000000	0.06391	0.000000	0.08366	0.037000	0.13953	0.1494:0.216:0.0:0.6346	5.862	0.18006	813	0.42397	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05263	3615.83	59	chr6	36721879	.	C	T	3615.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.37;DP=1254;ExcessHet=0.119;FS=2.173;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.64;ReadPosRankSum=-0.102;SOR=0.857	GT:AD:DP:GQ:PL	0/1:51,68:119:99:1764,0,1062	17	0	2	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	.	.	.	.	.	.	.	.	0.25	653.84	109	chr6	44229406	.	C	T	653.84	.	AC=8;AF=0.25;AN=32;BaseQRankSum=-2.959;DP=1754;ExcessHet=4.0268;FS=181.44;InbreedingCoeff=-0.3334;MLEAC=9;MLEAF=0.281;MQ=60;MQRankSum=0;QD=0.74;ReadPosRankSum=0.762;SOR=9.869	GT:AD:DP:GQ:PL	0/1:79,35:120:85:85,0,1303	8	0	8	3
chr6	45422755	45422755	C	0	exonic	RUNX2	.	.	.	Cleidocranial dysplasia, Autosomal dominant;Cleidocranial dysplasia, forme fruste, dental anomalies only, Autosomal dominant;Cleidocranial dysplasia, forme fruste, with brachydactyly, Autosomal dominant;Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly, Autosomal dominant	6	1429	71	5	11	92	0.0275604	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1802.43	40	chr6	45422755	.	C	*	1802.43	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.865;DP=902;ExcessHet=0.119;FS=0.484;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.84;ReadPosRankSum=-0.015;SOR=0.627	GT:AD:DP:GQ:PL	0/1:61,47:108:99:1786,0,2358	18	0	1	0
chr6	46168058	46168058	T	C	exonic	ENPP5	.	nonsynonymous SNV	ENPP5:NM_021572:exon2:c.A205G:p.I69V,ENPP5:NM_001290072:exon3:c.A205G:p.I69V	.	434	1052	34	2	0	38	0.0177404	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	.	0.0067	0.00199681	0.0060	0.0014	0.0028	0	0.0095	0.0080	0.0188	0.0038	0.0057438	888	154602	rs34432940	0.0064	0.0064	0.0064	0.0064	0.0120	0.0063	0.0062	0.0097	0.0089	0.0009	0.0033	0.0203	0	0.0083	0.0120	0.0066	0.0069	0.0043	0.0054	0.0053	0.0052	0.0055	0.0067	0.0050	0.0049	0.0062	0.0060	0.0010	0.0822	0.0034	0.0159	0	0.0084	0.0068	0.0067	0.0076	0.0054	0.126	0.27194	T	0.262	0.22895	T	0.035	0.20614	B	0.05	0.25278	B	0.000000	0.84330	D	0.050250	0.865251	0.35461	D	0.505	0.13445	N	-0.63	0.72011	T	-0.4	0.13805	N	0.109	0.14338	-1.0707	0.09260	T	0.084	0.32986	T	10	0.012347043	0.00266	T	.	.	.	0.064	0.18567	.	.	0.414539908741	0.41071	0.7343181863062871	0.73376	0.18094129058	0.20352	0.522546648979	0.41984	T	0.020387	0.16063	T	-0.460545	0.00976	T	-0.430452	0.29884	T	0.00810857899410531	0.00097	T	0.870113	0.57479	D	0.18285523	0.39524	0.082540125	0.18846	0.18285523	0.39524	0.082540125	0.18846	-3.053	0.10763	T	.	.	0.090	0.12465	B	.;.	.;.	2.384533	0.30617	18.49	0.97518443837251167	0.34389	0.88442	0.48372	D	AEFBI	0.347263	0.44180	N	-0.328549877010341	0.28068	1.545102	-0.147359051158791	0.33510	1.917597	0.00111298835938549	0.08239	0.651	0.46895	0	0.59043	0.45803	0	0.65145	0.50148	0	0.542086	0.14980	0	.	.	5.51	3.07	0.34476	2.590000	0.45819	2.848000	0.35122	0.595000	0.32841	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.1187:0.1209:0.7604	8.028	0.29609	825	0.40060	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.013595	0.010101	0.013587	0.002924	0.000000	0.025862	0.021341	0.018939	0.07895	4958.79	68	chr6	46168058	.	T	C	4958.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=2.61;DP=1446;ExcessHet=0.3672;FS=1.711;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=13.05;ReadPosRankSum=-0.72;SOR=0.805	GT:AD:DP:GQ:PL	0/1:73,58:131:99:1612,0,2018	16	0	3	0
chr6	52452768	52452768	G	C	exonic	EFHC1	.	nonsynonymous SNV	EFHC1:NM_018100:exon4:c.G654C:p.Q218H,EFHC1:NM_001172420:exon5:c.G597C:p.Q199H	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.0213006561176	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	0.35349	T	0.076	0.42794	T	0.009	0.15093	B	0.009	0.14300	B	0.502789	0.05102	N	1.224780	0.960058	0.26162	N	1.4	0.35362	L	-0.17	0.68892	T	-2.16	0.48850	N	0.282	0.31925	-0.9120	0.46607	T	0.130	0.44009	T	10	0.11768001	0.30019	T	0.021301	0.44047	T	0.080	0.23350	0.359	0.36222	0.77106490448	0.76897	0.4579657901614387	0.45714	0.0818539134905	0.09219	0.300646156073	0.10496	T	0.038097	0.66461	T	-0.126555	0.32055	T	-0.419564	0.31125	T	0.146014183759689	0.16781	T	0.886611	0.61335	D	0.077110946	0.17481	0.10104331	0.24178	0.077110946	0.17481	0.10104331	0.24178	-6.283	0.49704	T	0.2239105676680736	0.30232	0.121	0.35951	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.	1.653286	0.21093	15.05	0.9879689365631017	0.46381	0.81040	0.40530	D	AEFDBI	0.214327	0.33981	N	-0.321073350943608	0.28348	1.56288	-0.21485408905987	0.31003	1.75056	0.101889425332378	0.16395	0.706298	0.61202	0	0.670034	0.63936	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	6.01	1.66	0.23081	0.325000	0.19374	0.953000	0.22937	0.676000	0.76740	0.948000	0.32982	0.995000	0.32472	0.942000	0.48361	0.2712:0.0:0.7288:0.0	11.909	0.52009	857	0.34089	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1444.33	34	chr6	52452768	.	G	C	1444.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.495;DP=756;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.94;ReadPosRankSum=-0.913;SOR=0.748	GT:AD:DP:GQ:PL	0/1:62,59:121:99:1458,0,1592	18	0	1	0
chr6	52452799	52452799	T	C	exonic	EFHC1	.	nonsynonymous SNV	EFHC1:NM_018100:exon4:c.T685C:p.F229L,EFHC1:NM_001172420:exon5:c.T628C:p.F210L	.	0	1500	22	0	0	22	0.00727995	.	.	.	17103	not_specified|not_provided|Myoclonic_epilepsy,_juvenile,_susceptibility_to,_1|Absence_seizure	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0020752,MedGen:C1850778,OMIM:254770|MedGen:C0014553,Orphanet:1941	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.399	0.031365780839	0.0033	0.00179712	0.0036	0.0005	0.0019	0	0	0.0046	0.0044	0.0059	0.003454	534	154602	rs137852776	0.0034	0.0034	0.0032	0.0036	0.0175	0.0033	0.0033	0.0147	0.0137	0.0009	0.0023	0.0093	0	0.0001	0.0175	0.0033	0.0049	0.0064	0.0025	0.0025	0.0027	0.0022	0.0037	0.0023	0.0022	0.0033	0.0032	0.0004	0.0011	0.0027	0.0081	0.0006	0.0002	0.0102	0.0037	0.0066	0.0031	0.122	0.28646	T	0.46	0.12597	T	0.504	0.37219	P	0.313	0.41496	B	0.000485	0.43931	D	0.293940	0.933231	0.38088	D	2.095	0.58118	M	-0.03	0.66834	T	-3.63	0.69714	D	0.549	0.57518	-0.6689	0.61879	T	0.230	0.59534	T	10	0.008032471	0.00182	T	0.031366	0.53467	D	0.399	0.71321	0.716	0.85141	0.731118981328	0.72872	0.5701267345547452	0.56940	0.121426892883	0.13675	0.618223547935	0.55478	T	0.058338	0.63291	T	-0.0980215	0.36755	T	0.0884799	0.76144	D	0.0429790339192971	0.04234	T	0.915508	0.87759	D	0.23443545	0.46263	0.23962149	0.49316	0.19015794	0.40589	0.21333316	0.45839	-5.389	0.40813	T	0.3224772137888053	0.42062	0.768	0.80895	P	.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.	4.128566	0.61766	24.4	0.98029295558647345	0.37697	0.91334	0.53324	D	AEFDBI	0.459867	0.51029	N	0.321863335675946	0.57272	3.893954	0.416421696834408	0.62587	4.476721	0.992551105850647	0.32882	0.706298	0.61202	0	0.670034	0.63936	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	6.01	6.01	0.97420	4.606000	0.60832	7.895000	0.73253	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0673:0.0:0.9327	12.303	0.54206	857	0.34089	.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.015609	0.000000	0.031250	0.011696	0.150000	0.008621	0.006098	0.015152	0.02632	1665.33	34	chr6	52452799	.	T	C	1665.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.141;DP=784;ExcessHet=0;FS=0.591;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.74;ReadPosRankSum=0.992;SOR=0.627	GT:AD:DP:GQ:PL	0/1:80,75:155:99:1679,0,1966	18	0	1	0
chr6	54940064	54940064	A	G	exonic	FAM83B	.	nonsynonymous SNV	FAM83B:NM_001010872:exon5:c.A1093G:p.N365D	.	430	1086	5	1	0	7	0.00321248	.	.	.	3665768	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.128	0.008472026032	7.7e-05	.	2.496e-05	0.0002	0	0	0	0	0.0011	0	1.94e-05	3	154602	rs139474742	4.789e-06	4.788e-06	2.723e-06	6.876e-06	0.0002	1.99e-06	1.28e-06	9.9e-06	3.7e-06	5.978e-05	0	0	0	0	0.0002	1.799e-06	1.656e-05	1.159e-05	3.284e-05	3.283e-05	3.853e-05	2.689e-05	0.0001	1.261e-05	7.98e-06	4.737e-05	3.052e-05	0.0001	0	0	0	0	0	0	0	0	0	0.045	0.40832	D	0.551	0.09393	T	0.421	0.35387	B	0.08	0.28873	B	0.000129	0.49741	D	0.142257	0.952624	0.26432	N	2.52	0.73523	M	3.22	0.07024	T	-0.39	0.13611	N	0.324	0.36464	-0.9838	0.34116	T	0.009	0.03315	T	10	0.13427216	0.25555	T	0.008472	0.22407	T	0.128	0.35103	.	.	0.37568098594	0.37176	0.36733234653772645	0.36647	0.0744127489113	0.08345	0.541538238525	0.44663	T	0.020545	0.16160	T	-0.480727	0.00732	T	-0.648872	0.09033	T	0.290938168764114	0.24629	T	0.70043	0.31009	T	0.09511466	0.22377	0.13713032	0.32787	0.09511466	0.22377	0.13713032	0.32786	-2.793	0.08119	T	.	.	0.148	0.32733	B	.	.	2.779746	0.36511	20.3	0.98748425131403939	0.45618	0.81137	0.40605	D	AEFBI	0.117004	0.22940	N	-0.0787106768524388	0.38328	2.243092	-0.00706160525319983	0.39395	2.335157	0.171788352992053	0.17746	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.28	5.28	0.74118	2.915000	0.48503	8.054000	0.76369	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.7992:0.0:0.2008:0.0	7.852	0.28620	760	0.50470	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	3581.33	44	chr6	54940064	.	A	G	3581.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.31;DP=936;ExcessHet=0;FS=0.46;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.16;ReadPosRankSum=-0.32;SOR=0.638	GT:AD:DP:GQ:PL	0/1:115,138:253:99:3595,0,2778	18	0	1	0
chr6	64945865	64945865	T	G	exonic	EYS	.	nonsynonymous SNV	EYS:NM_001142800:exon15:c.A2309C:p.Q770P,EYS:NM_001292009:exon15:c.A2309C:p.Q770P	Retinitis pigmentosa 25	2	1498	21	1	0	23	0.00761842	.	.	YES	99508	not_provided|Retinitis_pigmentosa_25|EYS-related_disorder|Retinitis_pigmentosa	MedGen:C3661900|MONDO:MONDO:0011272,MedGen:C1864446,OMIM:602772,Orphanet:791|.|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.344	0.156062011435	.	0.00159744	0.0030	0	0.0073	0	0	0.0005	0	0.0067	0.0004916	76	154602	rs398123574	0.0006	0.0005	0.0004	0.0008	0.0062	0.0005	0.0005	0.0057	0.0055	0.0002	0.0003	0.0003	2.809e-05	2.031e-05	0.0037	0.0002	0.0007	0.0062	0.0004	0.0004	0.0003	0.0005	0.0079	0.0003	0.0003	0.0059	0.0052	2.407e-05	0	0	0	0	0	0	0.0004	0.0009	0.0079	0.348	0.12386	T	0.081	0.43159	T	0.994	0.66517	D	0.737	0.55577	P	.	.	.	.	0.998745	0.21941	N	1.5	0.37844	L	-2.05	0.86216	D	-1.51	0.36787	N	0.376	0.41754	-0.1664	0.78515	T	0.499	0.81048	T	9	0.007982731	0.00181	T	0.156062	0.83689	D	0.344	0.66582	.	.	0.535439087667	0.53195	0.972809422957025	0.97269	0.0159416971316	0.01523	0.257191330194	0.04562	T	0.026495	0.19595	T	-0.297945	0.08855	T	-0.198419	0.54796	T	0.0266984907649297	0.01503	T	0.441756	0.12241	T	0.222128	0.44805	0.23040426	0.48142	0.2326741	0.46059	0.2054426	0.44713	-8.491	0.64370	D	0.6818919307570994	0.75840	0.353	0.56793	A	.;.	.;.	2.881389	0.38135	20.7	0.93232170797979319	0.22914	0.89096	0.49359	D	AEFI	0.414808	0.48392	N	0.0678100956216895	0.44965	2.761136	-0.0335103225406271	0.38212	2.248075	2.38709261326093E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.31	3.12	0.34986	1.514000	0.35441	1.516000	0.27058	0.574000	0.29054	0.999000	0.42656	0.008000	0.19753	0.934000	0.47231	0.0:0.1035:0.0:0.8965	7.723	0.27908	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	1	0	0	0	0	0	0	0.003106	0.000000	0.000000	0.009615	0.000000	0.000000	0.000000	0.000000	0.02632	1260.33	37	chr6	64945865	.	T	G	1260.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.164;DP=752;ExcessHet=0;FS=3.15;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.34;ReadPosRankSum=-0.874;SOR=1.01	GT:AD:DP:GQ:PL	0/1:76,59:135:99:1274,0,1756	18	0	1	0
chr6	73730429	73730429	G	A	exonic	CD109	.	nonsynonymous SNV	CD109:NM_001159587:exon4:c.G362A:p.R121H,CD109:NM_133493:exon4:c.G362A:p.R121H	.	418	1085	19	0	0	19	0.00867976	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.00407403340912	.	0.000199681	0.0003	0	0.0002	0	0	0.0002	0	0.0014	0.0002781	43	154602	rs111900767	0.0002	0.0002	0.0002	0.0003	0.0023	0.0002	0.0002	0.0015	0.0015	8.966e-05	8.944e-05	0	0	3.744e-05	0.0023	0.0001	0.0003	0.0018	0.0002	0.0002	0.0001	0.0002	0.0021	0.0001	9.237e-05	0.0011	0.0009	4.815e-05	0	0.0001	0	0	0	0	0.0001	0	0.0021	0.151	0.24857	T	0.098	0.39040	T	0.004	0.12183	B	0.009	0.14300	B	0.960159	0.07712	N	1.017200	1	0.08975	N	2.19	0.61577	M	1.86	0.24285	T	-0.61	0.18042	N	0.329	0.38950	-0.9527	0.40503	T	0.010	0.03582	T	10	0.014167875	0.00298	T	0.004074	0.09712	T	0.015	0.02232	.	.	0.165133752707	0.16062	0.2246981547612539	0.22384	0.0355492049732	0.03753	0.291018903255	0.09071	T	0.012462	0.10952	T	-0.587824	0.00173	T	-0.652523	0.08778	T	0.0279248407251503	0.01677	T	0.737326	0.35372	T	0.019185638	0.00445	0.024031734	0.00418	0.019185638	0.00445	0.024031734	0.00418	-4.718	0.33622	T	.	.	0.069	0.06250	B	.;.	.;.	1.434112	0.18528	13.78	0.97070937584941419	0.32239	0.03360	0.08452	N	AEFBI	0.089823	0.18205	N	-1.2080209151828	0.04881	0.221288	-1.23191064721539	0.05405	0.2574195	0.806036546163615	0.24271	0.706548	0.73137	0	0.588066	0.40923	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.28	-2.17	0.06663	-0.003000	0.12836	-0.574000	0.08411	-0.135000	0.12811	0.003000	0.16062	0.000000	0.08366	0.453000	0.27962	0.2431:0.3321:0.1914:0.2334	0.775	0.00965	886	0.28090	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.011364	0.02632	1868.33	33	chr6	73730429	.	G	A	1868.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.03;DP=794;ExcessHet=0;FS=1.891;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.62;ReadPosRankSum=-0.679;SOR=0.844	GT:AD:DP:GQ:PL	0/1:102,74:176:99:1882,0,2502	18	0	1	0
chr6	80007990	80007990	G	C	exonic	TTK	.	nonsynonymous SNV	TTK:NM_001166691:exon3:c.G321C:p.E107D,TTK:NM_003318:exon3:c.G321C:p.E107D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.607	0.126467273608	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	8.893e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.035	0.92824	D	0.999	0.77913	D	0.993	0.81110	D	0.000000	0.84330	D	0.000000	0.938546	0.37229	D	2.62	0.76659	M	-2.54	0.89496	D	-1.53	0.56787	N	0.406	0.46649	0.480	0.90261	D	0.698	0.89595	D	10	0.39968592	0.55478	T	0.126467	0.80813	D	0.607	0.84559	0.377	0.39156	0.756102065754	0.75388	0.29326060996924297	0.29239	0.586303879314	0.54233	0.593461692333	0.51983	T	0.093775	0.51827	T	0.153432	0.69590	D	-0.0173821	0.69202	D	0.93341064453125	0.60015	D	0.887811	0.64303	D	0.7694828	0.82017	0.34171048	0.59907	0.7694828	0.82018	0.34171048	0.59906	-9.025	0.67858	D	.	.	0.446	0.62023	A	.;.;.;.;.;.	.;.;.;.;.;.	4.273798	0.65043	24.8	0.99838627551170323	0.91972	0.91788	0.54264	D	AEFBI	0.340775	0.43748	N	0.324956302953043	0.57431	3.910505	0.282171109977361	0.54497	3.614648	0.999919670358034	0.45857	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.613276	0.41899	0	.	.	5.66	2.91	0.32903	2.081000	0.41220	5.042000	0.46920	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.2117:0.0:0.7883:0.0	11.092	0.47344	827	0.39843	.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.3571	8032.55	22	chr6	80007990	.	G	C	8032.55	.	AC=10;AF=0.357;AN=28;BaseQRankSum=-2.203;DP=910;ExcessHet=8.9063;FS=213.455;InbreedingCoeff=-0.5526;MLEAC=12;MLEAF=0.429;MQ=60;MQRankSum=0;QD=13.17;ReadPosRankSum=0.928;SOR=11.106	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:31,32:63:99:0|1:80007990_G_C:1059,0,1139:80007990	4	0	10	5
chr6	80007992	80007997	GTTTTG	-	exonic	TTK	.	nonframeshift deletion	TTK:NM_001166691:exon3:c.323_328del:p.S108_A110delinsT,TTK:NM_003318:exon3:c.323_328del:p.S108_A110delinsT	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	7038.11	53	chr6	80007991	.	AGTTTTG	A	7038.11	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-2.306;DP=1098;ExcessHet=8.9063;FS=201.643;InbreedingCoeff=-0.4074;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=11.44;ReadPosRankSum=0.705;SOR=11.067	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:31,32:63:99:0|1:80007990_G_C:1059,0,1139:80007990	16	0	3	0
chr6	80007992	80007992	G	0	exonic	TTK	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4583	394.98	21	chr6	80007992	.	G	*	394.98	.	AC=11;AF=0.458;AN=24;BaseQRankSum=0.548;DP=887;ExcessHet=22.5857;FS=247.209;InbreedingCoeff=-0.5703;MLEAC=15;MLEAF=0.625;MQ=60;MQRankSum=0;QD=0.62;ReadPosRankSum=1.65;SOR=11.394	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:31,32:63:99:0|1:80007990_G_C:1059,0,1139:80007990	1	0	11	7
chr6	80007993	80007993	T	0	exonic	TTK	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4375	397.65	21	chr6	80007993	.	T	*	397.65	.	AC=7;AF=0.438;AN=16;BaseQRankSum=-0.741;DP=803;ExcessHet=12.7857;FS=238.801;InbreedingCoeff=-0.3118;MLEAC=12;MLEAF=0.75;MQ=60;MQRankSum=0;QD=0.96;ReadPosRankSum=1.99;SOR=10.505	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:31,32:63:99:0|1:80007990_G_C:1059,0,1139:80007990	1	0	7	11
chr6	80007995	80007995	T	0	exonic	TTK	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	2459.5	21	chr6	80007995	.	T	*	2459.5	.	AC=4;AF=0.2;AN=20;BaseQRankSum=0.037;DP=798;ExcessHet=15.1594;FS=240.59;InbreedingCoeff=-0.3379;MLEAC=6;MLEAF=0.3;MQ=60;MQRankSum=0;QD=5.27;ReadPosRankSum=2.01;SOR=10.704	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:31,32:63:99:0|1:80007990_G_C:1059,0,1139:80007990	6	0	4	9
chr6	80007996	80007996	T	0	exonic	TTK	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09091	2295.91	21	chr6	80007996	.	T	*	2295.91	.	AC=2;AF=0.091;AN=22;BaseQRankSum=-0.62;DP=836;ExcessHet=2.6804;FS=364.496;InbreedingCoeff=-0.2035;MLEAC=3;MLEAF=0.136;MQ=60;MQRankSum=0;QD=7.27;ReadPosRankSum=0.99;SOR=9.796	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:31,32:63:99:0|1:80007990_G_C:1059,0,1139:80007990	9	0	2	8
chr6	80007997	80007997	-	CCCCCA	exonic	TTK	.	nonframeshift insertion	TTK:NM_001166691:exon3:c.328_329insCCCCCA:p.A110_R111insPT,TTK:NM_003318:exon3:c.328_329insCCCCCA:p.A110_R111insPT	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	2153.55	42	chr6	80007997	.	G	GCCCCCA	2153.55	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-1.71;DP=869;ExcessHet=0.7564;FS=172.724;InbreedingCoeff=-0.1206;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=10.77;ReadPosRankSum=1.07;SOR=8.472	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:29,32:61:99:0|1:80007990_G_C:1065,0,1069:80007990	15	0	4	0
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	.	.	.	.	.	.	.	.	0.3	996.02	46	chr6	87418396	.	G	C	996.02	.	AC=9;AF=0.3;AN=30;BaseQRankSum=-1.179;DP=1225;ExcessHet=5.3738;FS=245.846;InbreedingCoeff=-0.41;MLEAC=10;MLEAF=0.333;MQ=60;MQRankSum=0;QD=1.64;ReadPosRankSum=1.97;SOR=11.473	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:48,25:73:82:.:.:82,0,598:.	6	0	9	4
chr6	89387554	89387554	T	C	exonic	RRAGD	.	nonsynonymous SNV	RRAGD:NM_021244:exon2:c.A185G:p.K62R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.237	0.0459605129201	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.152	0.24468	T	0.139	0.33666	T	0.006	0.13644	B	0.007	0.12992	B	0.000000	0.84330	D	0.000000	1	0.81001	D	0.895	0.22405	L	-1.6	0.82165	D	-1.95	0.45222	N	0.611	0.62781	-0.7933	0.55537	T	0.198	0.55286	T	10	0.42910653	0.57372	T	0.045961	0.62234	D	0.237	0.54074	0.379	0.39482	0.666911227615	0.66410	0.5154736576222827	0.51470	0.625558543375	0.56729	0.884754538536	0.94591	D	0.320705	0.69187	T	0.0848412	0.62603	D	-0.115908	0.62136	T	0.65753719078742	0.38788	D	0.915808	0.69967	D	0.39994615	0.60729	0.4226091	0.66157	0.39994615	0.60729	0.4226091	0.66157	-7.448	0.57243	T	.	.	0.146	0.32226	B	.	.	3.914373	0.57101	23.8	0.99662368132531831	0.78011	0.99435	0.95993	D	ALL	0.942153	0.94637	D	-0.0677014115021785	0.38816	2.279244	0.177463500570098	0.48615	3.075023	1.0	0.98316	0.706298	0.61202	0	0.52208	0.09955	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.61	5.61	0.85347	7.645000	0.82580	7.898000	0.73400	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.0:0.0:0.0:1.0	15.796	0.78181	744	0.52588	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1191.33	40	chr6	89387554	.	T	C	1191.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.15;DP=737;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.95;ReadPosRankSum=0.418;SOR=0.783	GT:AD:DP:GQ:PL	0/1:46,46:92:99:1205,0,1149	18	0	1	0
chr6	99401262	99401262	T	C	exonic	PNISR	.	nonsynonymous SNV	PNISR:NM_001322415:exon10:c.A1642G:p.I548V,PNISR:NM_001322408:exon11:c.A1696G:p.I566V,PNISR:NM_001322413:exon11:c.A1696G:p.I566V,PNISR:NM_001322414:exon11:c.A1642G:p.I548V,PNISR:NM_015491:exon11:c.A1696G:p.I566V,PNISR:NM_001322405:exon12:c.A1696G:p.I566V,PNISR:NM_001322410:exon12:c.A1696G:p.I566V,PNISR:NM_001322412:exon12:c.A1696G:p.I566V,PNISR:NM_032870:exon12:c.A1696G:p.I566V,PNISR:NM_001322406:exon13:c.A1696G:p.I566V	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.171	0.0012752501839	7.7e-05	0.000599042	0.0001	9.63e-05	0	0	0	1.5e-05	0	0.0010	0.0001358	21	154602	rs371964421	6.567e-05	6.567e-05	5.717e-05	7.426e-05	0.0007	5.495e-05	5.107e-05	0.0005	0.0005	0	0	0	0	1.873e-05	0	2.608e-05	0.0001	0.0007	3.303e-05	3.288e-05	2.587e-05	4.051e-05	0.0008	1.266e-05	8.02e-06	0.0003	0.0002	0	0	0	0	0	0	0	1.478e-05	0	0.0008	1.0	0.00964	T	0.511	0.10785	T	0.0	0.02946	B	0.002	0.06944	B	0.097756	0.02518	N	1.681770	1	0.08975	N	-1.1	0.00987	N	.	.	.	0.16	0.05217	N	0.07	0.04307	-1.0235	0.22573	T	0.012	0.04558	T	9	0.010415435	0.00232	T	0.001275	0.01733	T	0.171	0.43483	.	.	0.0675242888579	0.06100	0.11100241480597728	0.11029	0.283479733959	0.30790	0.382581472397	0.22622	T	0.00373	0.03140	T	-0.550633	0.00289	T	-0.620071	0.11180	T	0.00611718005227483	0.00067	T	0.611339	0.23205	T	0.015280719	0.00131	0.021099519	0.00174	0.015280719	0.00131	0.021099519	0.00173	-2.687	0.07194	T	.	.	0.060	0.00904	B	.;.;.	.;.;.	-0.204174	0.03070	0.478	0.71272278881807005	0.09573	0.58139	0.30562	D	AEFBI	0.086226	0.17483	N	-0.948342552559302	0.09729	0.4617823	-0.852067695970643	0.13238	0.6856271	0.0161190127601242	0.12793	0.719381	0.83141	0	0.723133	0.82719	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.49	-4.13	0.03639	0.783000	0.26463	-2.901000	0.03247	-0.175000	0.10903	0.933000	0.32380	0.000000	0.08366	0.941000	0.48210	0.0:0.3245:0.4185:0.257	8.154	0.30321	558	0.71484	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2630.33	41	chr6	99401262	.	T	C	2630.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.59;DP=827;ExcessHet=0;FS=4.395;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.12;ReadPosRankSum=-0.966;SOR=0.488	GT:AD:DP:GQ:PL	0/1:81,93:174:99:2644,0,2112	18	0	1	0
chr6	107459275	107459275	C	G	exonic	PDSS2	.	nonsynonymous SNV	PDSS2:NM_020381:exon1:c.G11C:p.R4P	Coenzyme Q10 deficiency, primary, 3, Autosomal recessive	1	1504	17	0	0	17	0.00561983	.	.	.	142393	not_provided|Kidney_disorder|not_specified	MedGen:C3661900|Human_Phenotype_Ontology:HP:0000112,MONDO:MONDO:0005240,MedGen:C0022658|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.157	.	0.0024	0.0241613	0.0145	0.0044	0.0190	0.1223	0.0236	0.0022	0.0213	0.0068	0.0128912	1993	154602	rs3734676	0.0058	0.0058	0.0058	0.0057	0.1031	0.0057	0.0056	0.1005	0.0994	0.0040	0.0165	0.0002	0.1031	0.0232	0.0012	0.0007	0.0111	0.0085	0.0088	0.0089	0.0075	0.0103	0.1164	0.0085	0.0083	0.1087	0.1057	0.0051	0	0.0094	0	0.1164	0.0231	0	0.0010	0.0138	0.0095	0.0	0.91255	D	0.094	0.50809	T	0.0	0.11197	B	0.001	0.11217	B	0.210257	0.16383	N	0.606092	0.509735	0.31657	P	0.895	0.22405	L	-0.74	0.73205	T	-0.96	0.31375	N	0.118	0.10769	-1.0732	0.08724	T	0.107	0.39027	T	9	0.0021348894	0.00031	T	.	.	.	0.157	0.40909	.	.	.	.	0.7632919470598469	0.76277	1.56442157667	0.88085	0.411633312702	0.26683	T	0.141287	0.47627	T	-0.389213	0.02722	T	-0.235138	0.51271	T	0.0630561155304963	0.07640	T	0.431557	0.11736	T	0.48596865	0.66260	0.32896096	0.58780	0.44288084	0.63589	0.35287103	0.60857	-5.192	0.38860	T	.	.	0.140	0.30791	B	.;.	.;.	2.685896	0.35051	19.79	0.9948452771320363	0.67069	0.12137	0.17082	N	ALL	0.357630	0.44859	N	-0.593922435938182	0.19129	0.9986997	-0.480685444171749	0.22686	1.233445	0.999999997873428	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	4.95	1.17	0.19998	-0.356000	0.07711	-0.819000	0.07303	-0.202000	0.08738	0.893000	0.31264	0.001000	0.17328	0.901000	0.43729	0.0:0.5462:0.1727:0.281	4.122	0.09581	883	0.28872	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.005035	0.000000	0.000000	0.000000	0.000000	0.000000	0.012195	0.018939	0.05263	2451.81	36	chr6	107459275	.	C	G	2451.81	.	AC=2;AF=0.053;AN=38;DP=704;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=31.07;SOR=1.238	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,57:57:99:1|1:107459275_C_G:2479,172,0:107459275	18	1	0	0
chr6	107459279	107459279	A	G	exonic	PDSS2	.	nonsynonymous SNV	PDSS2:NM_020381:exon1:c.T7C:p.F3L	Coenzyme Q10 deficiency, primary, 3, Autosomal recessive	1	1504	17	0	0	17	0.00561983	.	.	.	142392	not_provided|not_specified|Kidney_disorder	MedGen:C3661900|MedGen:CN169374|Human_Phenotype_Ontology:HP:0000112,MONDO:MONDO:0005240,MedGen:C0022658	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.103	.	0.0022	0.0241613	0.0145	0.0044	0.0190	0.1224	0.0236	0.0022	0.0213	0.0068	0.0128912	1993	154602	rs3734675	0.0058	0.0058	0.0058	0.0057	0.1031	0.0057	0.0056	0.1005	0.0994	0.0040	0.0165	0.0002	0.1031	0.0232	0.0012	0.0007	0.0111	0.0085	0.0088	0.0089	0.0074	0.0103	0.1165	0.0085	0.0083	0.1088	0.1057	0.0051	0	0.0094	0	0.1165	0.0231	0	0.0010	0.0137	0.0095	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.065873	0.21850	N	0.452937	0.999999	0.08975	P	-0.895	0.01383	N	-0.37	0.68892	T	0.94	0.01529	N	0.042	0.01498	-1.0286	0.20908	T	0.026	0.11131	T	9	0.0016657114	0.00020	T	.	.	.	0.103	0.29403	0.107	0.01868	.	.	0.4038196387786051	0.40297	1.29723427444	0.82929	0.492638885975	0.37804	T	0.059756	0.31203	T	-0.551265	0.00287	T	-0.467914	0.25742	T	0.0446702100960615	0.04542	T	0.267173	0.04416	T	0.064943574	0.13830	0.07265999	0.15702	0.081193656	0.18642	0.12288539	0.29638	-2.381	0.05593	T	.	.	0.129	0.28319	B	.;.	.;.	2.186362	0.27874	17.61	0.7247576596209323	0.09987	0.00288	0.01547	N	ALL	0.026495	0.01998	N	-0.838437304885245	0.12336	0.600679	-0.581886924545139	0.19965	1.073591	0.999999999692805	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	4.95	4.05	0.46415	2.168000	0.42051	2.055000	0.30365	-0.103000	0.15852	1.000000	0.71638	1.000000	0.68203	0.893000	0.43066	0.2065:0.0:0.7935:0.0	7.351	0.25862	883	0.28872	.;.	.	.	.	.	.	Likely benign	0	0	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	0.000000	0.000000	0.000000	0.000000	0.012195	0.018939	0.05263	2416.81	36	chr6	107459279	.	A	G	2416.81	.	AC=2;AF=0.053;AN=38;DP=701;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=29.87;SOR=1.302	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,56:56:99:1|1:107459275_C_G:2444,169,0:107459275	18	1	0	0
chr6	110456761	110456761	T	C	exonic	SLC22A16	.	nonsynonymous SNV	SLC22A16:NM_033125:exon2:c.A310G:p.N104D	.	426	1093	2	1	0	4	0.00182648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	.	.	0.00738818	0.0038	0	8.639e-05	0	0	0	0.0022	0.0280	0.0033958	525	154602	rs200263837	0.0016	0.0016	0.0009	0.0023	0.0257	0.0016	0.0015	0.0249	0.0245	5.974e-05	2.236e-05	0	5.038e-05	0	0.0012	1.439e-05	0.0017	0.0257	0.0009	0.0009	0.0004	0.0013	0.0273	0.0008	0.0007	0.0235	0.0221	0	0	6.538e-05	0	0	0	0	0	0	0.0273	0.212	0.20381	T	0.207	0.27056	T	0.005	0.14655	B	0.004	0.13708	B	0.006163	0.01113	N	5.254820	1	0.08975	N	0	0.06538	N	-0.04	0.63240	T	-0.58	0.22294	N	0.121	0.21449	-1.0687	0.09701	T	0.048	0.20395	T	10	0.0029841661	0.00049	T	.	.	.	0.038	0.09825	0.36	0.36385	0.213573922156	0.20996	0.5289545914735869	0.52819	0.0154150590524	0.01471	0.303937673569	0.10991	T	0.02424	0.18353	T	-0.632934	0.00092	T	-0.662346	0.08108	T	0.0184367964067303	0.00560	T	0.565243	0.19970	T	0.07001998	0.15388	0.047940005	0.07016	0.07001998	0.15388	0.047940005	0.07016	-3.575	0.17496	T	.	.	0.155	0.34405	B	.;.;.;.;.	.;.;.;.;.	0.203021	0.05874	2.316	0.93440783683806394	0.23218	0.04077	0.09534	N	AEFGBI	0.053991	0.09777	N	-1.0676759614658	0.07245	0.3359881	-1.07346999071854	0.08225	0.4034778	0.0209939263290338	0.13310	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.59	0.763	0.17606	0.878000	0.27770	0.813000	0.21772	-0.123000	0.13640	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.542:0.2674:0.0:0.1906	5.776	0.17547	493	0.76500	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	0.002518	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.018939	0.05263	9984.81	151	chr6	110456761	.	T	C	9984.81	.	AC=2;AF=0.053;AN=38;DP=1847;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=30.35;SOR=0.699	GT:AD:DP:GQ:PL	1/1:0,329:329:99:10012,987,0	18	1	0	0
chr6	111719865	111719865	C	T	exonic	FYN	.	nonsynonymous SNV	FYN:NM_001370529:exon2:c.G187A:p.V63I,FYN:NM_153048:exon2:c.G187A:p.V63I,FYN:NM_002037:exon4:c.G187A:p.V63I,FYN:NM_153047:exon4:c.G187A:p.V63I	.	424	1093	5	0	0	5	0.00228206	.	.	.	2199916	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.246	0.0295029610937	0.0002	0.000199681	0.0003	0.0002	0.0002	0	0	0.0004	0	0.0005	0.0003234	50	154602	rs62620251	0.0003	0.0003	0.0002	0.0003	0.0057	0.0002	0.0002	0.0042	0.0037	0.0004	0.0007	0.0014	0	0	0.0057	0.0002	0.0004	0.0005	0.0003	0.0003	0.0003	0.0003	0.0010	0.0002	0.0002	0.0007	0.0005	7.223e-05	0	0.0010	0.0003	0.0002	0	0.0034	0.0003	0	0.0006	0.455	0.91255	T	0.199	0.92824	T	0.004	0.12183	B	0.002	0.11217	B	0.000001	0.62929	D	0.000000	0.999997	0.58761	D	1.61	0.41143	L	2.33	0.73523	T	-0.25	0.21644	N	0.628	0.64223	-0.8996	0.48034	T	0.128	0.43625	T	10	0.05668962	0.06393	T	0.029503	0.52003	D	0.246	0.55340	.	.	0.926839519959	0.92608	0.09318568452493498	0.09250	1.62513862552	0.89136	0.74085521698	0.73099	T	0.413346	0.76724	T	-0.174014	0.24628	T	-0.11665	0.62076	T	0.737988531589508	0.42629	D	0.834017	0.91282	T	0.0746189	0.16757	0.063847795	0.12709	0.0746189	0.16757	0.063847795	0.12709	-4.935	0.37239	T	.	.	0.092	0.36053	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	3.544769	0.49806	22.8	0.91411281606590156	0.20678	0.97716	0.76619	D	AEFBI	0.848633	0.76545	D	-0.400604806282695	0.25447	1.381	-0.213903704370897	0.31035	1.752756	0.999999999799782	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.69	4.82	0.61641	7.568000	0.81546	7.631000	0.62734	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.710000	0.34452	0.0:0.9303:0.0:0.0697	14.625	0.68214	173	0.93306	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004532	0.005051	0.008152	0.000000	0.000000	0.008621	0.003049	0.000000	0.05263	4809.81	34	chr6	111719865	.	C	T	4809.81	.	AC=2;AF=0.053;AN=38;DP=784;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=29.69;SOR=0.908	GT:AD:DP:GQ:PL	1/1:0,162:162:99:4837,486,0	18	1	0	0
chr6	116100935	116100935	C	T	exonic	NT5DC1	.	nonsynonymous SNV	NT5DC1:NM_152729:exon1:c.C5T:p.A2V	.	425	1080	17	0	0	17	0.00780891	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	.	0.0011	0.00279553	0.0027	0	0.0015	0.0001	0.0002	0.0016	0.0041	0.0110	0.0020763	321	154602	rs148112050	0.0016	0.0016	0.0013	0.0018	0.0099	0.0015	0.0015	0.0094	0.0091	6.391e-05	0.0010	0.0039	2.615e-05	0	0.0065	0.0010	0.0022	0.0099	0.0011	0.0011	0.0010	0.0013	0.0112	0.0010	0.0009	0.0088	0.0079	9.62e-05	0	0.0014	0.0020	0.0002	0	0	0.0012	0.0028	0.0112	0.053	0.46910	T	0.042	0.57104	D	0.669	0.41149	P	0.355	0.42984	B	0.249733	0.15536	N	0.650460	0.776799	0.29377	N	1.845	0.48678	L	1.93	0.22881	T	-0.73	0.25551	N	0.271	0.30687	-1.1009	0.03984	T	0.031	0.13504	T	10	0.007064432	0.00161	T	.	.	.	0.047	0.12962	.	.	0.318828661733	0.31499	0.5133724043286988	0.51259	0.357632686699	0.37474	0.670213341713	0.62868	T	0.033	0.22643	T	-0.474123	0.00802	T	-0.445859	0.28155	T	0.0273838570528199	0.01599	T	0.709329	0.31993	T	0.058258742	0.11700	0.14163214	0.33721	0.058258742	0.11699	0.14163214	0.33720	-5.864	0.45127	T	.	.	0.295	0.52622	B	.;.	.;.	3.308052	0.45438	22.1	0.99659717316690144	0.77883	0.50037	0.28570	D	ALL	0.197991	0.32488	N	-0.107861594902292	0.37048	2.150028	-0.116142015714426	0.34739	2.001673	0.999999999999475	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	3.94	3.07	0.34476	1.049000	0.30001	2.943000	0.35675	0.456000	0.21511	0.248000	0.24829	1.000000	0.68203	0.876000	0.41813	0.0:0.9031:0.0:0.0969	10.879	0.46133	785	0.46916	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006054	0.005155	0.004076	0.002924	0.000000	0.008621	0.015244	0.000000	0.05263	2263.81	35	chr6	116100935	.	C	T	2263.81	.	AC=2;AF=0.053;AN=38;DP=709;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=31.01;SOR=0.898	GT:AD:DP:GQ:PL	1/1:0,73:73:99:2291,219,0	18	1	0	0
chr6	116462102	116462102	T	G	exonic	CALHM6	.	nonsynonymous SNV	CALHM6:NM_001010919:exon2:c.T173G:p.V58G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.110	0.032175217686	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.182	0.29249	T	0.999	0.77913	D	0.967	0.71530	D	0.000038	0.55875	D	0.071749	0.999999	0.81001	D	.	.	.	2.12	0.19726	T	-3.79	0.71639	D	0.25	0.28264	-1.1178	0.02476	T	0.052	0.22037	T	10	0.33424625	0.50601	T	0.032175	0.54073	D	0.110	0.31079	0.464	0.53404	0.618772897693	0.61568	0.6303147895980106	0.62965	0.539597992946	0.51187	0.482273280621	0.36370	T	0.028597	0.20678	T	-0.126119	0.32125	T	-0.418938	0.31197	T	0.981705665588379	0.74064	D	0.50095	0.15685	T	0.88840425	0.90370	0.61106914	0.77375	0.88840425	0.90372	0.61106914	0.77375	-5.12	0.38117	T	.	.	0.320	0.54514	B	.	.	3.907275	0.56954	23.8	0.99591514063303155	0.73631	0.35428	0.25299	N	ALL	0.161544	0.28762	N	0.0560633200740674	0.44423	2.716555	-0.0642094054566443	0.36883	2.152118	0.999999999999887	0.74766	0.443343	0.08805	1	0.374146	0.05931	1	0.666236	0.60216	0	0.603991	0.37454	0	.	.	5.1	2.61	0.30255	0.179000	0.16653	0.157000	0.15360	-0.194000	0.09177	0.037000	0.20830	0.023000	0.20922	0.250000	0.23263	0.1334:0.1562:0.0:0.7104	5.780	0.17564	503	0.75780	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05263	1533.81	37	chr6	116462102	.	T	G	1533.81	.	AC=2;AF=0.053;AN=38;DP=695;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=31.3;SOR=1.225	GT:AD:DP:GQ:PL	1/1:0,49:49:99:1561,147,0	18	1	0	0
chr6	117389410	117389410	G	C	exonic	ROS1	.	nonsynonymous SNV	ROS1:NM_002944:exon12:c.C1699G:p.L567V,ROS1:NM_001378891:exon13:c.C1726G:p.L576V,ROS1:NM_001378902:exon13:c.C1726G:p.L576V	.	420	1095	7	0	0	7	0.00318616	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.198	.	7.7e-05	0.0115815	0.0054	9.621e-05	0.0007	0.0001	0	1.5e-05	0.0044	0.0389	0.0047865	740	154602	rs372925583	0.0022	0.0022	0.0012	0.0033	0.0358	0.0022	0.0022	0.0347	0.0343	5.974e-05	0.0001	0	0	0	0.0021	3.687e-05	0.0023	0.0358	0.0016	0.0016	0.0008	0.0024	0.0489	0.0014	0.0014	0.0438	0.0418	4.811e-05	0	0	0	0	0	0	5.88e-05	0	0.0489	0.759	0.03576	T	0.01	0.65728	D	0.999	0.77913	D	0.987	0.77487	D	0.087795	0.20515	N	0.410168	0.996728	0.43377	D	1.63	0.41750	L	-1.85	0.84267	D	-1.24	0.31375	N	0.295	0.46742	-0.4089	0.71746	T	0.417	0.76340	T	10	0.0035032928	0.00063	T	.	.	.	0.198	0.48105	.	.	0.556025216835	0.55262	0.41104802722632666	0.41020	0.207928039086	0.23260	0.441803216934	0.30824	T	0.09198	0.38908	T	-0.34345	0.05153	T	-0.238255	0.50969	T	0.104405478387371	0.12834	T	0.775922	0.40781	T	0.093015544	0.21837	0.07608507	0.16817	0.084053695	0.19437	0.06771387	0.14045	-4.244	0.27384	T	0.3175206680856337	0.41559	0.154	0.38080	B	.;.	.;.	2.473556	0.31887	18.88	0.66626410818049864	0.08114	0.86446	0.45728	D	AEFDBCI	0.438361	0.49778	N	0.315319905435026	0.56933	3.85912	0.345105044478776	0.58213	3.99058	0.999566135236297	0.40425	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.4	3.59	0.40253	2.555000	0.45515	5.067000	0.47142	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.850000	0.40195	0.1462:0.0:0.8538:0.0	9.782	0.39821	716	0.55970	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	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003027	0.005051	0.000000	0.002924	0.000000	0.008621	0.000000	0.007576	0.05263	2096.81	34	chr6	117389410	.	G	C	2096.81	.	AC=2;AF=0.053;AN=38;DP=713;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=30.84;SOR=1.352	GT:AD:DP:GQ:PL	1/1:0,68:68:99:2124,204,0	18	1	0	0
chr6	142309626	142309626	A	G	exonic	ADGRG6	.	nonsynonymous SNV	ADGRG6:NM_001032394:exon2:c.A85G:p.M29V,ADGRG6:NM_001032395:exon2:c.A85G:p.M29V,ADGRG6:NM_020455:exon2:c.A85G:p.M29V,ADGRG6:NM_198569:exon2:c.A85G:p.M29V	Lethal congenital contracture syndrome 9, Autosomal recessive	426	1093	3	0	0	3	0.00137049	.	.	.	735439	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.028	0.00945157521299	0.0005	0.000399361	0.0010	0.0005	0.0022	0.0002	0	0.0014	0	0.0005	0.0006404	99	154602	rs145672534	0.0006	0.0006	0.0006	0.0007	0.0042	0.0006	0.0006	0.0029	0.0025	0.0002	0.0011	3.871e-05	5.072e-05	5.663e-05	0.0042	0.0007	0.0006	0.0003	0.0006	0.0006	0.0007	0.0005	0.0010	0.0005	0.0005	0.0008	0.0007	0.0002	0	0.0010	0	0	0	0.0034	0.0009	0.0010	0.0004	0.806	0.03857	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.927554	0.08444	N	0.963043	1	0.08975	N	.	.	.	1.98	0.21865	T	0.19	0.08809	N	0.086	0.11197	-0.9132	0.46454	T	0.006	0.02018	T	10	0.0064124167	0.00145	T	0.009452	0.24763	T	0.028	0.06331	.	.	0.0297737177859	0.01360	0.3870688691912296	0.38621	0.117208668594	0.13211	0.319220602512	0.13303	T	0.084815	0.37361	T	-0.539746	0.00336	T	-0.604432	0.12442	T	0.00299577336417023	0.00031	T	0.616038	0.24021	T	0.044315554	0.07063	0.05148791	0.08297	0.03727107	0.04745	0.052634798	0.08710	-1.744	0.02372	T	.	.	0.049	0.08512	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.491725	0.01894	0.156	0.49216491857603062	0.04172	0.00916	0.03571	N	AEFDBI	0.044874	0.07272	N	-1.2025787185517	0.04962	0.2251297	-1.15000018414291	0.06767	0.3268971	0.999610692698905	0.40981	0.627647	0.40530	0	0.573888	0.26702	0	0.653264	0.51672	0	0.657601	0.63696	0	.	.	5.66	0.716	0.17347	0.079000	0.14636	-0.135000	0.11577	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.6143:0.0:0.3857:0.0	6.930	0.23617	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	1	0	0.002518	0.005051	0.001359	0.002924	0.050000	0.000000	0.000000	0.003788	0.02632	1315.33	42	chr6	142309626	.	A	G	1315.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.909;DP=744;ExcessHet=0;FS=0.69;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.15;ReadPosRankSum=-0.794;SOR=0.569	GT:AD:DP:GQ:PL	0/1:59,59:118:99:1329,0,1412	18	0	1	0
chr6	142415911	142415911	C	T	exonic	ADGRG6	.	nonsynonymous SNV	ADGRG6:NM_001032394:exon19:c.C2701T:p.L901F,ADGRG6:NM_001032395:exon19:c.C2701T:p.L901F,ADGRG6:NM_020455:exon20:c.C2785T:p.L929F,ADGRG6:NM_198569:exon20:c.C2785T:p.L929F	Lethal congenital contracture syndrome 9, Autosomal recessive	429	1063	28	2	0	32	0.0148285	.	.	.	710216	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.382	.	0.0013	0.00439297	0.0030	0.0001	0.0015	0	0	0.0022	0.0078	0.0116	0.0028525	441	154602	rs186655757	0.0020	0.0020	0.0017	0.0023	0.0127	0.0019	0.0019	0.0103	0.0098	0.0004	0.0020	0.0002	0	0.0002	0.0127	0.0014	0.0028	0.0106	0.0019	0.0019	0.0015	0.0023	0.0110	0.0017	0.0016	0.0086	0.0078	0.0003	0.0011	0.0054	0.0006	0	9.429e-05	0.0068	0.0017	0.0066	0.0110	0.038	0.44029	D	.	.	.	1.0	0.90584	D	1.0	0.97372	D	0.000014	0.62929	D	0.000000	1	0.81001	D	.	.	.	1.07	0.39586	T	-3.71	0.70674	D	0.491	0.53006	-0.6123	0.64308	T	0.251	0.62108	T	10	0.020136267	0.00459	T	.	.	.	0.382	0.69946	.	.	0.439551795455	0.43578	0.6790257753278311	0.67841	0.582222379871	0.53986	0.513044834137	0.40648	T	0.371903	0.73618	T	-0.105586	0.35500	T	0.0849509	0.75908	D	0.0733345355968421	0.09111	T	0.79622	0.44234	T	0.23291788	0.46088	0.26195386	0.51980	0.2693197	0.50004	0.29664806	0.55697	-7.675	0.59049	D	.	.	0.202	0.42606	B	.;.;.;.	.;.;.;.	2.723302	0.35625	19.95	0.99877375110024558	0.95410	0.97492	0.75099	D	AEFBI	0.851761	0.76863	D	0.64390101101507	0.75975	6.401847	0.553391529432174	0.71634	5.684729	1.0	0.98316	0.730579	0.87903	0	0.573888	0.26702	0	0.602189	0.34648	0	0.648885	0.59868	0	.	.	5.4	5.4	0.77957	3.889000	0.55925	2.715000	0.34266	-0.175000	0.10903	0.998000	0.41325	0.993000	0.31925	0.229000	0.22707	0.0:1.0:0.0:0.0	19.524	0.95191	720	0.55521	GPCR, family 2-like;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.016113	0.005051	0.017663	0.008772	0.000000	0.000000	0.042683	0.007576	0.02632	1190.33	35	chr6	142415911	.	C	T	1190.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.789;DP=743;ExcessHet=0;FS=0.696;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.35;ReadPosRankSum=0.24;SOR=0.779	GT:AD:DP:GQ:PL	0/1:65,50:115:99:1204,0,1604	18	0	1	0
chr6	154090105	154090105	T	A	exonic	OPRM1	.	nonsynonymous SNV	OPRM1:NM_001285527:exon1:c.T270A:p.N90K,OPRM1:NM_001285528:exon1:c.T270A:p.N90K,OPRM1:NM_000914:exon2:c.T570A:p.N190K,OPRM1:NM_001008503:exon2:c.T570A:p.N190K,OPRM1:NM_001008504:exon2:c.T570A:p.N190K,OPRM1:NM_001008505:exon2:c.T570A:p.N190K,OPRM1:NM_001145280:exon2:c.T270A:p.N90K,OPRM1:NM_001145281:exon2:c.T327A:p.N109K,OPRM1:NM_001145282:exon2:c.T570A:p.N190K,OPRM1:NM_001145283:exon2:c.T570A:p.N190K,OPRM1:NM_001145284:exon2:c.T570A:p.N190K,OPRM1:NM_001145285:exon2:c.T570A:p.N190K,OPRM1:NM_001145286:exon2:c.T570A:p.N190K,OPRM1:NM_001145287:exon2:c.T270A:p.N90K,OPRM1:NM_001285523:exon2:c.T570A:p.N190K,OPRM1:NM_001285526:exon2:c.T270A:p.N90K,OPRM1:NM_001285524:exon3:c.T849A:p.N283K,OPRM1:NM_001145279:exon4:c.T849A:p.N283K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.574	0.0404713361987	0.0006	0.00139776	0.0003	0.0035	0	0	0	0	0	0	0.0002652	41	154602	rs34074916	8.209e-05	8.209e-05	8.984e-05	7.425e-05	0.0032	7.002e-05	6.552e-05	0.0027	0.0025	0.0032	0.0001	0	0	0	0	0	9.935e-05	0	0.0008	0.0008	0.0009	0.0008	0.0029	0.0007	0.0007	0.0024	0.0023	0.0029	0	0.0003	0	0	0	0	0	0.0005	0	0.0	0.91255	D	0.054	0.64786	T	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.99812	0.44535	D	2.5	0.72771	M	-0.6	0.71662	T	-5.75	0.87760	D	0.943	0.97535	0.168	0.85372	D	0.487	0.80456	T	10	0.12481415	0.23710	T	0.040471	0.59392	D	0.574	0.82742	0.812	0.92788	0.742365421711	0.74004	0.9780023010296905	0.97791	0.351331071588	0.36974	0.64451867342	0.59206	T	0.09313	0.81383	T	-0.271549	0.11585	T	-0.163676	0.58020	T	0.194480358595853	0.20105	T	0.992826	0.97638	D	0.98309463	0.99337	0.9684548	0.99396	0.98309463	0.99337	0.9684548	0.99396	-13.325	0.91232	D	.	.	0.999	0.98051	P	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	2.753237	0.36096	20.2	0.99539767769494236	0.70398	0.90500	0.51728	D	AEFGI	0.636587	0.61568	D	0.242284737595031	0.53259	3.495576	0.0311950520762276	0.41171	2.469105	0.00116202181468056	0.08293	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.8	-5.35	0.02488	0.101000	0.15088	-1.449000	0.05414	0.665000	0.62972	0.965000	0.33920	0.000000	0.08366	1.000000	0.97212	0.0:0.4161:0.0:0.5838	13.429	0.60493	952	0.10565	.;.;.;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	.	.	.	.	.	.	.	.	0.02632	3128.33	41	chr6	154090105	.	T	A	3128.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.16;DP=855;ExcessHet=0;FS=2.59;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.13;ReadPosRankSum=1.12;SOR=0.889	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:82,112:194:99:0|1:154090105_T_A:3142,0,3094:154090105	18	0	1	0
chr6	154090110	154090110	G	T	exonic	OPRM1	.	nonsynonymous SNV	OPRM1:NM_001285527:exon1:c.G275T:p.C92F,OPRM1:NM_001285528:exon1:c.G275T:p.C92F,OPRM1:NM_000914:exon2:c.G575T:p.C192F,OPRM1:NM_001008503:exon2:c.G575T:p.C192F,OPRM1:NM_001008504:exon2:c.G575T:p.C192F,OPRM1:NM_001008505:exon2:c.G575T:p.C192F,OPRM1:NM_001145280:exon2:c.G275T:p.C92F,OPRM1:NM_001145281:exon2:c.G332T:p.C111F,OPRM1:NM_001145282:exon2:c.G575T:p.C192F,OPRM1:NM_001145283:exon2:c.G575T:p.C192F,OPRM1:NM_001145284:exon2:c.G575T:p.C192F,OPRM1:NM_001145285:exon2:c.G575T:p.C192F,OPRM1:NM_001145286:exon2:c.G575T:p.C192F,OPRM1:NM_001145287:exon2:c.G275T:p.C92F,OPRM1:NM_001285523:exon2:c.G575T:p.C192F,OPRM1:NM_001285526:exon2:c.G275T:p.C92F,OPRM1:NM_001285524:exon3:c.G854T:p.C285F,OPRM1:NM_001145279:exon4:c.G854T:p.C285F	.	.	.	.	.	.	.	.	.	.	.	816819	not_provided|Tramadol_response	MedGen:C3661900|MedGen:CN078023	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.329	.	0.0057	0.00119808	0.0053	0.0007	0.0003	0.0001	0.0198	0.0072	0.0078	0.0009	0.0052716	815	154602	rs62638690	0.0068	0.0068	0.0070	0.0066	0.0073	0.0067	0.0066	0.0072	0.0072	0.0008	0.0009	0.0115	2.519e-05	0.0173	0.0005	0.0073	0.0068	0.0007	0.0054	0.0054	0.0050	0.0059	0.0071	0.0051	0.0050	0.0066	0.0064	0.0009	0	0.0041	0.0109	0	0.0190	0	0.0071	0.0005	0.0004	0.008	0.58626	D	0.021	0.58089	D	0.503	0.90584	P	0.384	0.92359	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.15	0.29295	L	1.31	0.35405	T	-7.23	0.94566	D	0.558	0.65587	-0.8932	0.48650	T	0.159	0.49245	T	10	0.012341499	0.00266	T	.	.	.	0.329	0.65126	.	.	0.862615716202	0.86128	0.9641018739265651	0.96397	0.187891431722	0.21116	0.790556371212	0.80527	T	0.102845	0.81807	T	-0.270425	0.11709	T	-0.156096	0.58702	T	0.0318147732580209	0.02276	T	0.932307	0.74741	D	0.84342426	0.86854	0.8612665	0.92265	0.84342426	0.86856	0.8612665	0.92266	-6.778	0.57003	T	.	.	0.156	0.41618	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	4.557013	0.71774	25.7	0.98208089301679335	0.39184	0.98779	0.86744	D	AEFGI	0.974691	0.99574	D	0.458052763096567	0.64660	4.725801	0.582554051994423	0.73690	6.011851	0.999676254430798	0.41644	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.8	5.8	0.92081	6.690000	0.74396	11.863000	0.98373	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	20.071	0.97721	952	0.10565	.;.;.;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	0.001008	0.000000	0.000000	0.002924	0.000000	0.000000	0.003067	0.003788	0.02632	1817.33	41	chr6	154090110	.	G	T	1817.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.674;DP=848;ExcessHet=0;FS=3.46;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.56;ReadPosRankSum=-1.158;SOR=0.488	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:110,80:190:99:1|0:154090105_T_A:1831,0,4324:154090105	18	0	1	0
chr6	165343438	165343438	C	T	exonic	PDE10A	.	nonsynonymous SNV	PDE10A:NM_001130690:exon19:c.G2050A:p.V684I,PDE10A:NM_001385079:exon19:c.G2848A:p.V950I,PDE10A:NM_006661:exon20:c.G2020A:p.V674I	Dyskinesia, limb and orofacial, infantile-onset, Autosomal recessive;Striatal degeneration, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	2126458	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.211	0.0237981034059	7.7e-05	0.000399361	0.0001	9.641e-05	0.0002	0.0013	0	1.501e-05	0	6.064e-05	0.0001164	18	154602	rs117826255	0.0001	0.0001	0.0001	0.0002	0.0042	0.0001	0.0001	0.0037	0.0035	2.988e-05	8.944e-05	0	0.0042	1.873e-05	0.0002	2.338e-05	0.0001	0.0001	9.852e-05	9.843e-05	6.425e-05	0.0001	0.0012	6.004e-05	4.878e-05	0.0005	0.0003	0	0	0.0001	0	0.0012	0	0	7.35e-05	0	0.0004	.	.	.	.	.	.	0.005	0.12996	B	0.007	0.12992	B	0.000000	0.84330	D	0.054660	0.999991	0.58761	D	0.31	0.10265	N	.	.	.	.	.	.	.	.	-0.7972	0.55309	T	0.182	0.52950	T	10	0.031979084	0.01341	T	0.023798	0.46775	T	0.211	0.50185	.	.	0.33174030287	0.32783	0.512846364583235	0.51206	0.662654156328	0.58988	0.450631827116	0.32031	T	0.007103	0.57579	T	-0.413375	0.01888	T	-0.401939	0.33158	T	0.020911060436455	0.00792	T	0.941906	0.78301	D	0.3109661	0.53870	0.21458484	0.46014	0.3109661	0.53870	0.21458484	0.46013	-3.416	0.16784	T	.	.	0.083	0.12084	B	.;.;.;.;.;.	.;.;.;.;.;.	3.749008	0.53732	23.4	0.58247300718993922	0.05950	0.87838	0.47517	D	AEFBI	0.347831	0.44217	N	-0.112418634171184	0.36851	2.13577	0.108058932944534	0.44959	2.767806	0.997816752871752	0.36062	0.638212	0.43195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.668105	0.65232	0	.	.	5.67	5.67	0.87673	4.434000	0.59679	7.520000	0.59748	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:1.0:0.0:0.0	19.360	0.94422	992	0.01359	.;.;.;.;.;3'5'-cyclic nucleotide phosphodiesterase, catalytic domain|3'5'-cyclic nucleotide phosphodiesterase, catalytic domain|HD/PDEase domain|HD/PDEase 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	.	.	.	.	.	.	.	.	0.02632	1293.33	34	chr6	165343438	.	C	T	1293.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.9;DP=745;ExcessHet=0;FS=1.437;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.26;ReadPosRankSum=-0.025;SOR=0.74	GT:AD:DP:GQ:PL	0/1:73,53:126:99:1307,0,1766	18	0	1	0
chr6	170561952	170561952	A	0	exonic	TBP	.	.	.	Spinocerebellar ataxia 17, Autosomal dominant	48	390	47	5	1032	1089	0.0681004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8158	949.0	153	chr6	170561952	.	A	*	949.0	.	AC=31;AF=0.816;AN=38;DP=3440;ExcessHet=2.0135;FS=1.339;InbreedingCoeff=-0.1874;MLEAC=31;MLEAF=0.816;MQ=60;MQRankSum=0;QD=0.66;ReadPosRankSum=3.29;SOR=0.564	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:1,57:58:99:1|1:170561949_GCAA_G:2228,139,0:170561949	0	12	7	0
chr6	170561964	170561964	G	0	exonic	TBP	.	.	.	Spinocerebellar ataxia 17, Autosomal dominant	68	560	433	93	368	987	0.355952	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5278	9626.11	127	chr6	170561964	.	G	*	9626.11	.	AC=19;AF=0.528;AN=36;BaseQRankSum=-1.99;DP=3235;ExcessHet=0.2833;FS=3.053;InbreedingCoeff=0.0877;MLEAC=20;MLEAF=0.556;MQ=59.95;MQRankSum=0;QD=5.61;ReadPosRankSum=2.3;SOR=0.516	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,88:88:99:1|1:170561949_GCAA_G:3843,270,0:170561949	5	6	7	1
chr6	170561967	170561967	G	0	exonic	TBP	.	.	.	Spinocerebellar ataxia 17, Autosomal dominant	46	879	60	4	533	601	0.0372399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4737	2380.05	128	chr6	170561967	.	G	*	2380.05	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-0.939;DP=2816;ExcessHet=1.9883;FS=1.746;InbreedingCoeff=-0.0556;MLEAC=18;MLEAF=0.474;MQ=60;MQRankSum=0;QD=1.87;ReadPosRankSum=2.34;SOR=0.583	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,56:57:99:.:.:3762,247,0:.	6	5	8	0
chr7	290725	290725	C	G	exonic	FOXL3	.	nonsynonymous SNV	FOXL3:NM_001374838:exon2:c.C180G:p.D60E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1401769274	1.508e-05	0.0005	1.932e-05	1.072e-05	3.51e-05	9.85e-06	8.01e-06	1.156e-05	9.32e-06	3.51e-05	0	0	0	0	0	1.808e-05	0	0	6.573e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29690653	0.47254	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.909409	0.67928	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.248	0.48230	B	.	.	2.606792	0.33848	19.46	0.92665126009978027	0.22145	0.72915	0.35675	D	AEFDBI	.	.	.	.	.	.	.	.	.	0.999996798729429	0.74766	0.11394	0.02926	0	0.063388	0.01293	0	0.125351	0.03401	0	0.109499	0.03221	0	0.842344	0.50902	4.4	4.4	0.52402	1.910000	0.39557	1.324000	0.25623	0.445000	0.21165	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	16.969	0.86166	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4444	1206.95	21	chr7	290725	.	C	G	1206.95	.	AC=16;AF=0.444;AN=36;BaseQRankSum=-0.395;DP=627;ExcessHet=25.4433;FS=271.165;InbreedingCoeff=-0.7777;MLEAC=17;MLEAF=0.472;MQ=60;MQRankSum=0;QD=2.5;ReadPosRankSum=1.14;SOR=10.646	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:24,15:39:99:.:.:102,0,316:.	2	0	16	1
chr7	905094	905094	C	T	exonic	ADAP1	.	nonsynonymous SNV	ADAP1:NM_001284311:exon3:c.G182A:p.R61Q,ADAP1:NM_001284310:exon4:c.G251A:p.R84Q,ADAP1:NM_001284308:exon5:c.G500A:p.R167Q,ADAP1:NM_001284309:exon5:c.G251A:p.R84Q,ADAP1:NM_006869:exon5:c.G467A:p.R156Q	.	431	1089	2	0	0	2	0.000917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.219	0.0168108744763	.	.	1.671e-05	0	0	0.0001	0	1.529e-05	0	0	1.29e-05	2	154602	rs761464767	5.548e-05	5.609e-05	5.452e-05	5.645e-05	0.0003	4.549e-05	4.161e-05	6.094e-05	4.908e-05	2.987e-05	2.236e-05	0	0	0	0.0003	6.566e-05	6.627e-05	0	1.97e-05	1.97e-05	0	4.033e-05	4.409e-05	5.24e-06	2.45e-06	1.17e-05	6.25e-06	0	0	0	0	0	0	0	4.409e-05	0	0	0.147	0.28900	T	0.144	0.33554	T	0.998	0.73220	D	0.597	0.50647	P	0.000009	0.62929	D	0.059211	0.977578	0.39765	D	2.525	0.73725	M	1.56	0.30133	T	-2.39	0.54217	N	0.771	0.78167	-0.9600	0.39181	T	0.113	0.40377	T	10	0.25373185	0.42744	T	0.016811	0.38239	T	0.219	0.51417	0.436	0.48828	0.45068843185	0.44691	0.40325897865250043	0.40241	0.551030841052	0.51957	0.692955136299	0.66130	T	0.091094	0.70033	T	-0.185313	0.22950	T	-0.334838	0.40929	T	0.387241959571838	0.28459	T	0.965103	0.87078	D	0.542928	0.69560	0.44324946	0.67547	0.542928	0.69561	0.44324946	0.67548	-12.324	0.86393	D	.	.	0.230	0.54811	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.128884	0.85820	28.7	0.99913641030173828	0.98238	0.66956	0.33260	D	ALL	0.677699	0.64232	D	0.207364955575868	0.51554	3.335842	0.137634392850989	0.46491	2.894179	1.0	0.98316	0.732398	0.92422	0	0.743671	0.97443	0	0.723109	0.80598	0	0.616125	0.45549	0	.	.	3.98	3.98	0.45383	4.733000	0.61730	7.357000	0.58325	0.599000	0.40250	0.631000	0.28008	1.000000	0.68203	0.884000	0.42379	0.0:1.0:0.0:0.0	16.279	0.82491	840	0.37365	Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain|ADAP, PH domain 1;.;.;.;Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain|ADAP, PH domain 1;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1678.33	72	chr7	905094	.	C	T	1678.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.33;DP=1171;ExcessHet=0;FS=1.251;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.69;ReadPosRankSum=-2.188;SOR=0.735	GT:AD:DP:GQ:PL	0/1:84,73:157:99:1692,0,1892	18	0	1	0
chr7	2590010	2590010	G	A	exonic	IQCE	.	nonsynonymous SNV	IQCE:NM_001287501:exon12:c.G953A:p.R318Q,IQCE:NM_001287502:exon12:c.G953A:p.R318Q,IQCE:NM_001287500:exon13:c.G1100A:p.R367Q,IQCE:NM_001287499:exon14:c.G1148A:p.R383Q,IQCE:NM_152558:exon14:c.G1148A:p.R383Q	.	423	1095	2	0	2	4	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.00509927072239	.	0.000798722	0.0008	0	0.0011	0.0002	0	0.0002	0.0011	0.0039	0.0006274	97	154602	rs180961841	0.0003	0.0003	0.0002	0.0004	0.0034	0.0003	0.0003	0.0031	0.0030	0	0.0003	7.654e-05	0.0003	0	0.0012	0.0001	0.0003	0.0034	0.0002	0.0002	0.0002	0.0003	0.0039	0.0001	0.0001	0.0026	0.0021	2.405e-05	0	0	0	0.0006	0	0	0.0001	0.0005	0.0039	0.114	0.39820	T	0.284	0.42086	T	0.967	0.56408	D	0.433	0.45477	B	0.119803	0.02715	N	1.816500	1	0.08975	N	0.895	0.22405	L	2.76	0.11730	T	-0.32	0.12283	N	0.103	0.13055	-0.9934	0.31722	T	0.029	0.12409	T	10	0.0054558516	0.00120	T	0.005099	0.12939	T	0.061	0.17616	0.234	0.16305	0.269111216191	0.26524	0.14638195126359294	0.14560	0.143833080321	0.16248	0.269725799561	0.06105	T	0.00786	0.17650	T	-0.620617	0.00109	T	-0.666355	0.07844	T	0.0229057217034771	0.01012	T	0.664534	0.33152	T	0.02123664	0.00716	0.029419823	0.01278	0.01757592	0.00284	0.026376786	0.00724	-2.692	0.07847	T	.	.	0.071	0.07793	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	0.406972	0.07781	4.467	0.94562809698033379	0.25090	0.00777	0.03195	N	AEFDGBI	0.031807	0.03473	N	-0.990087857219991	0.08814	0.4147551	-1.18800043518797	0.06110	0.2930787	0.347912696949542	0.19652	0.651	0.46895	0	0.694456	0.67091	0	0.645312	0.48771	0	0.683762	0.67416	0	.	.	5.15	-4.19	0.03573	-0.792000	0.04700	-0.647000	0.08048	-0.106000	0.15538	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	0.3742:0.3829:0.2429:0.0	6.244	0.20020	895	0.25842	.;.;.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	2522.33	35	chr7	2590010	.	G	A	2522.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.21;DP=836;ExcessHet=0;FS=2.454;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.74;ReadPosRankSum=-0.633;SOR=0.531	GT:AD:DP:GQ:PL	0/1:95,103:198:99:2536,0,2153	18	0	1	0
chr7	2731671	2731671	T	G	exonic	GNA12	.	nonsynonymous SNV	GNA12:NM_001282440:exon3:c.A428C:p.K143T,GNA12:NM_001293092:exon3:c.A605C:p.K202T,GNA12:NM_007353:exon4:c.A656C:p.K219T,GNA12:NM_001282441:exon5:c.A479C:p.K160T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.668	0.286769814137	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.68238	D	0.045	0.50226	D	0.737	0.42882	P	0.609	0.51053	P	0.000001	0.84330	D	0.091969	0.999997	0.81001	D	2.815	0.81989	M	-1.73	0.83327	D	-2.42	0.56787	N	0.652	0.66272	0.498	0.90524	D	0.700	0.89649	D	10	0.81313854	0.80578	D	0.28677	0.90424	D	0.668	0.87674	0.569	0.69167	0.864517202593	0.86319	0.8203320400220414	0.81990	1.61965087899	0.89044	0.860010623932	0.91113	D	0.641877	0.89028	D	0.233471	0.77046	D	0.0975887	0.76748	D	0.932513117790222	0.59862	D	0.953105	0.85063	D	0.6798906	0.76963	0.4565865	0.68415	0.6798906	0.76964	0.4565865	0.68416	-11.256	0.81479	D	.	.	0.834	0.81678	P	.;.;.	.;.;.	4.513705	0.70713	25.6	0.99771061852208098	0.85918	0.98601	0.84566	D	AEFGBI	0.923204	0.89933	D	0.519538529369346	0.68245	5.19081	0.437802243665192	0.63937	4.637848	0.999999970824036	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	6.03	4.87	0.62877	7.917000	0.86906	2.888000	0.35372	0.665000	0.62972	1.000000	0.71638	0.991000	0.31484	0.996000	0.76049	0.1242:0.0:0.0:0.8757	12.625	0.55983	970	0.06235	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1059.33	37	chr7	2731671	.	T	G	1059.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.791;DP=742;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.83;ReadPosRankSum=-1.318;SOR=0.655	GT:AD:DP:GQ:PL	0/1:73,47:120:99:1073,0,1949	18	0	1	0
chr7	5943365	5943365	C	T	exonic	RSPH10B;RSPH10B2	.	nonsynonymous SNV	RSPH10B2:NM_001099697:exon15:c.G1717A:p.E573K,RSPH10B:NM_173565:exon15:c.G1717A:p.E573K	.	432	1076	13	1	0	15	0.00692201	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.209	.	0.0019	0.000798722	0.0034	0.0008	0.0006	0.0005	0.0139	0.0038	0.0118	0.0019	0.0003842	10	26028	rs141993275	0.0030	0.0032	0.0031	0.0030	0.0030	0.0030	0.0029	0.0029	0.0028	0.0007	0.0007	0.0008	0.0008	0.0135	0.0023	0.0030	0.0033	0.0012	0.0027	0.0028	0.0026	0.0027	0.0033	0.0025	0.0024	0.0029	0.0028	0.0008	0	0.0016	0	0.0012	0.0101	0.0035	0.0033	0.0034	0.0010	0.015	0.52492	D	0.006	0.70582	D	1.0	0.90584	D	0.939	0.67449	D	0.044349	0.23647	N	0.323207	0.884354	0.81001	D	2.125	0.59049	M	0.3	0.58755	T	-2.73	0.58085	D	0.588	0.60833	-0.2130	0.77335	T	0.370	0.72940	T	10	0.0077085197	0.00175	T	.	.	.	0.209	0.49871	.	.	0.326345978581	0.32251	0.4712629908709334	0.47045	.	.	0.777902841568	0.78611	T	0.03028	0.21502	T	-0.330332	0.06087	T	-0.250954	0.49722	T	0.0330945032263918	0.02487	T	0.865813	0.56549	D	0.2001536	0.41980	0.18369192	0.41374	0.2001536	0.41980	0.18369192	0.41373	-7.385	0.56800	T	.	.	0.532	0.68218	A	.;.;.	.;.;.	4.256079	0.64637	24.7	0.9982502239446267	0.90764	0.95050	0.63256	D	AEFI	0.504218	0.53588	D	0.341733152506369	0.58305	4.001916	0.157945063145937	0.47564	2.984784	0.00271172640181135	0.09654	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.38	3.38	0.37806	6.249000	0.72380	7.471000	0.59152	0.586000	0.30580	1.000000	0.71638	1.000000	0.68203	0.012000	0.09680	0.0:1.0:0.0:0.0	14.355	0.66294	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	0.004264	0.000000	0.005450	0.012397	0.000000	0.000000	0.006173	0.000000	0.02632	1486.33	34	chr7	5943365	.	C	T	1486.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.73;DP=805;ExcessHet=0;FS=2.126;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=37.8;MQRankSum=-0.735;QD=9.17;ReadPosRankSum=-0.197;SOR=0.89	GT:AD:DP:GQ:PL	0/1:108,54:162:99:1500,0,3207	18	0	1	0
chr7	5943445	5943445	G	A	exonic	RSPH10B;RSPH10B2	.	nonsynonymous SNV	RSPH10B2:NM_001099697:exon15:c.C1637T:p.T546M,RSPH10B:NM_173565:exon15:c.C1637T:p.T546M	.	429	1090	3	0	0	3	0.00137426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.172	0.0569621342989	7.8e-05	.	7.69e-05	0	0	0	0	9.264e-05	0	0.0002	3.84e-05	1	26028	rs374427152	3.753e-05	4.584e-05	3.183e-05	4.328e-05	0.0004	2.94e-05	2.634e-05	9.07e-05	7.195e-05	0	2.421e-05	0	0	0	0.0004	3.096e-05	6.733e-05	0.0002	6.624e-05	7.237e-05	6.472e-05	6.782e-05	0.0002	3.543e-05	2.636e-05	5.851e-05	4.246e-05	0	0	6.677e-05	0	0	0	0	0.0001	0	0.0002	0.005	0.63226	D	0.024	0.56640	D	1.0	0.90584	D	0.759	0.56370	P	0.204952	0.16506	N	0.567046	1	0.81001	D	2.135	0.59519	M	0.56	0.54540	T	-2.94	0.61435	D	0.45	0.50056	-0.3694	0.72980	T	0.311	0.68130	T	10	0.39693668	0.55293	T	0.056962	0.66795	D	0.172	0.43662	.	.	0.436348499334	0.43257	0.386340243757776	0.38549	.	.	0.534548640251	0.43674	T	0.085435	0.37500	T	-0.0644685	0.42207	T	-0.330381	0.41426	T	0.659074008464813	0.38855	D	0.808919	0.45897	T	0.095662355	0.22517	0.18414497	0.41448	0.095662355	0.22517	0.18414497	0.41447	-7.817	0.59816	D	.	.	0.132	0.28578	B	.;.;.	.;.;.	2.925547	0.38847	20.8	0.99818786541537874	0.90150	0.53117	0.29294	D	AEFI	0.184335	0.31166	N	0.188630447999723	0.50653	3.253304	0.0136700094810185	0.40348	2.406573	0.00271172640181135	0.09654	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.38	3.38	0.37806	3.718000	0.54647	3.302000	0.37391	0.661000	0.55757	0.404000	0.26202	0.552000	0.25473	0.013000	0.09966	0.0:0.0:1.0:0.0	14.355	0.66294	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	0.000521	0.000000	0.000000	0.000000	0.000000	0.000000	0.003086	0.000000	0.02632	1146.33	70	chr7	5943445	.	G	A	1146.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.16;DP=1510;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=42.88;MQRankSum=-1.186;QD=6.74;ReadPosRankSum=-1.719;SOR=0.721	GT:AD:DP:GQ:PL	0/1:116,54:170:99:1160,0,2953	18	0	1	0
chr7	12380643	12380643	G	C	exonic	VWDE	.	nonsynonymous SNV	VWDE:NM_001135924:exon5:c.C632G:p.S211C,VWDE:NM_001346972:exon5:c.C632G:p.S211C,VWDE:NM_001346973:exon5:c.C167G:p.S56C	.	439	1041	40	2	0	44	0.0206961	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.317	.	0.0002	0.00299521	0.0071	0.0004	0.0024	0	0.0012	0.0005	0	0.0191	0.0012484	193	154602	rs201430222	0.0014	0.0013	0.0008	0.0019	0.0163	0.0013	0.0013	0.0155	0.0152	6.33e-05	0.0004	0.0004	2.798e-05	0.0002	0.0102	0.0004	0.0017	0.0163	0.0009	0.0009	0.0007	0.0012	0.0147	0.0008	0.0008	0.0120	0.0110	4.812e-05	0	0.0007	0.0006	0	0.0003	0.0136	0.0007	0.0019	0.0147	0.019	0.50132	D	0.015	0.61642	D	0.761	0.43566	P	0.338	0.42306	B	.	.	.	.	0.965048	0.25955	N	1.495	0.37439	L	-1.67	0.82806	D	-2.2	0.49519	N	0.162	0.17002	-0.4008	0.72001	T	0.416	0.76279	T	9	0.008293569	0.00188	T	.	.	.	0.317	0.63904	.	.	0.343334270461	0.33943	0.20029899394606046	0.19946	.	.	0.376162022352	0.21712	T	0.039527	0.25219	T	-0.420008	0.01710	T	-0.361152	0.37918	T	0.024809887274748	0.01248	T	0.578142	0.20837	T	0.16607872	0.36921	0.15976596	0.37245	0.16607872	0.36920	0.15976596	0.37244	-11.404	0.81827	D	.	.	0.167	0.36712	B	.	.	3.624016	0.51305	23.1	0.98969845649481181	0.49501	0.95695	0.65763	D	AEFBI	0.631091	0.61219	D	0.196351805118652	0.51024	3.287046	0.249341905279831	0.52612	3.434912	0.999978700190465	0.50053	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	4.98	4.98	0.65679	2.332000	0.43561	5.528000	0.48839	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.775000	0.36711	0.0:0.0:0.843:0.157	13.417	0.60423	837	0.37933	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003589	0.000000	0.000000	0.013043	0.000000	0.000000	0.005618	0.012195	0.07895	4882.79	43	chr7	12380643	.	G	C	4882.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=1.55;DP=1015;ExcessHet=0.3672;FS=2.947;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=13.83;ReadPosRankSum=-0.103;SOR=0.872	GT:AD:DP:GQ:PL	0/1:53,50:103:99:1415,0,1452	16	0	3	0
chr7	34051930	34051930	C	T	exonic	BMPER	.	nonsynonymous SNV	BMPER:NM_001365308:exon8:c.C746T:p.S249F,BMPER:NM_133468:exon9:c.C746T:p.S249F	Diaphanospondylodysostosis, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.264	0.043959928567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.01	0.65728	D	0.357	0.33788	B	0.241	0.38645	B	0.000040	0.55875	D	0.164884	0.999999	0.58761	D	2.35	0.67516	M	-0.26	0.67187	T	-2.97	0.61865	D	0.272	0.30800	-0.3490	0.73583	T	0.341	0.70721	T	10	0.5001063	0.61497	D	0.04396	0.61247	D	0.264	0.57741	0.551	0.66716	0.891819750827	0.89075	0.6755983025602584	0.67497	0.353429344433	0.37145	0.572640776634	0.49051	T	0.384357	0.74600	T	0.00554323	0.52417	T	-0.229814	0.51790	T	0.978092789649963	0.72158	D	0.909609	0.68017	D	0.35373107	0.57356	0.2850712	0.54508	0.35373107	0.57356	0.2850712	0.54507	-9.169	0.68778	D	0.32017927278143743	0.41831	0.193	0.47784	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.698606	0.52737	23.3	0.99686491598656812	0.79641	0.96842	0.71235	D	AEFGBI	0.679334	0.64340	D	0.270846024081592	0.54676	3.632732	0.323699421388438	0.56937	3.857819	0.999999999999933	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	5.12	5.12	0.69459	5.148000	0.64701	6.021000	0.52793	0.599000	0.40250	0.948000	0.32982	1.000000	0.68203	0.785000	0.37106	0.0:1.0:0.0:0.0	18.956	0.92632	850	0.35610	VWFC domain;.;VWFC 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	.	.	.	.	.	.	.	.	0.02632	841.33	33	chr7	34051930	.	C	T	841.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.259;DP=759;ExcessHet=0;FS=0.682;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=5.76;ReadPosRankSum=-1.207;SOR=0.574	GT:AD:DP:GQ:PL	0/1:102,44:146:99:855,0,2555	18	0	1	0
chr7	38767538	38767538	G	C	exonic	VPS41	.	nonsynonymous SNV	VPS41:NM_080631:exon14:c.C1171G:p.R391G,VPS41:NM_014396:exon15:c.C1246G:p.R416G	.	.	.	.	.	.	.	.	0.0125	0.18	.	3892510	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.304	0.0251284421074	.	.	9.176e-05	0	0.0002	0	0	0.0001	0	0	7.12e-05	11	154602	rs139485137	5.399e-05	5.405e-05	6.341e-05	4.448e-05	0.0002	4.395e-05	4.065e-05	9.027e-05	6.547e-05	0	0.0002	0	0	0	0.0002	5.999e-05	5.025e-05	0	3.29e-05	3.285e-05	3.857e-05	2.696e-05	6.553e-05	1.262e-05	7.99e-06	1.972e-05	1.125e-05	0	0	6.553e-05	0	0	0	0	5.882e-05	0	0	0.023	0.48186	D	0.3	0.20811	T	0.919	0.50927	P	0.34	0.42389	B	0.000000	0.84330	D	0.046740	0.999885	0.50402	D	1.825	0.47900	L	2.22	0.18248	T	-3.64	0.69835	D	0.898	0.89800	-1.1019	0.03869	T	0.041	0.17742	T	10	0.7310193	0.74298	D	0.025128	0.48109	D	0.304	0.62510	0.573	0.69695	0.324986149311	0.32103	0.6554220294632384	0.65478	0.936948820389	0.72059	0.535926818848	0.43871	T	0.200516	0.55812	T	-0.0156158	0.49476	T	0.00909235	0.70923	D	0.196783663996057	0.20236	T	0.962554	0.86020	D	0.50695014	0.67502	0.31838992	0.57807	0.50695014	0.67503	0.31838992	0.57807	-9.738	0.72328	D	.	.	0.474	0.63390	A	.;.	.;.	3.416568	0.47423	22.5	0.99614562665154605	0.75052	0.94076	0.60040	D	AEFBI	0.405565	0.47840	N	0.164677435607053	0.49509	3.150479	0.199427012486135	0.49814	3.180385	0.0660390368664016	0.15380	0.732398	0.92422	0	0.743671	0.97443	0	0.65145	0.50148	0	0.727631	0.95156	0	.	.	5.64	4.75	0.59954	2.279000	0.43094	8.544000	0.77503	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.841000	0.39698	0.0:0.0:0.6125:0.3875	13.971	0.63752	766	0.49742	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1156.33	33	chr7	38767538	.	G	C	1156.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.934;DP=724;ExcessHet=0;FS=1.475;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.8;ReadPosRankSum=-0.572;SOR=0.841	GT:AD:DP:GQ:PL	0/1:66,52:118:99:1170,0,1487	18	0	1	0
chr7	38869159	38869159	G	C	exonic	VPS41	.	nonsynonymous SNV	VPS41:NM_014396:exon3:c.C155G:p.T52R,VPS41:NM_080631:exon3:c.C155G:p.T52R	.	426	1091	5	0	0	5	0.00228624	.	.	.	2828391	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.452	0.0317242515211	0.0038	0.00179712	0.0030	0.0012	0.0017	0	0.0009	0.0042	0.0056	0.0022	0.0030465	471	154602	rs147210031	0.0045	0.0045	0.0045	0.0044	0.0053	0.0044	0.0044	0.0052	0.0051	0.0005	0.0018	0.0044	0	0.0010	0.0021	0.0053	0.0038	0.0018	0.0030	0.0030	0.0035	0.0025	0.0052	0.0028	0.0027	0.0048	0.0046	0.0008	0	0.0016	0.0040	0.0002	0.0017	0.0034	0.0052	0.0038	0.0017	0.003	0.72154	D	0.01	0.65728	D	0.987	0.61912	D	0.737	0.55577	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.81	0.47622	L	0.75	0.50192	T	-1.63	0.44094	N	0.946	0.95374	-0.8947	0.48512	T	0.169	0.50874	T	10	0.012589067	0.00270	T	0.031724	0.53738	D	0.452	0.75211	.	.	0.743075302769	0.74076	0.7535532918239468	0.75302	0.857118889408	0.68787	0.781746566296	0.79190	T	0.051127	0.28791	T	-0.0482478	0.44713	T	0.161924	0.80925	D	0.0281793895389097	0.01715	T	0.940606	0.79230	D	0.47741503	0.65743	0.5021299	0.71219	0.47741503	0.65744	0.5021299	0.71220	-11.781	0.84032	D	.	.	0.293	0.73351	B	.;.;.;.;.	.;.;.;.;.	4.611936	0.73149	25.9	0.99264953807408485	0.57356	0.99365	0.95074	D	AEFBI	0.917690	0.88568	D	0.76036404241696	0.83578	8.054329	0.801766886451582	0.89914	10.17608	0.999999999576504	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.724815	0.87919	0	0.613276	0.41899	0	.	.	5.86	5.86	0.93936	9.602000	0.97623	6.620000	0.56116	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	20.177	0.98183	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	0	0	0	0	0	1	0	0.002014	0.000000	0.001359	0.002924	0.000000	0.008621	0.000000	0.003788	0.02632	1162.33	33	chr7	38869159	.	G	C	1162.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.924;DP=732;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.69;ReadPosRankSum=-1.487;SOR=0.704	GT:AD:DP:GQ:PL	0/1:69,51:120:99:1176,0,1788	18	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	.	.	.	.	.	.	.	.	0.3947	4446.21	147	chr7	47829596	.	G	C	4446.21	.	AC=15;AF=0.395;AN=38;BaseQRankSum=-0.867;DP=2277;ExcessHet=25.4433;FS=276.126;InbreedingCoeff=-0.7273;MLEAC=15;MLEAF=0.395;MQ=60;MQRankSum=0;QD=2.54;ReadPosRankSum=0.158;SOR=13.082	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:63,36:99:99:.:.:236,0,904:.	4	0	15	0
chr7	47905259	47905259	G	C	exonic	PKD1L1	.	nonsynonymous SNV	PKD1L1:NM_138295:exon11:c.C1589G:p.T530S	Heterotaxy, visceral, 8, autosomal, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.221	0.0295903833756	.	.	8.238e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs755509454	3.42e-06	3.42e-06	2.722e-06	4.125e-06	0.0002	1e-06	7.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0.0002	3.597e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.50132	D	0.038	0.51421	D	0.615	0.39791	P	0.175	0.35598	B	0.312419	0.14411	N	0.586122	0.98375	0.24858	N	2.24	0.63355	M	-0.35	0.68616	T	-2.7	0.57599	D	0.309	0.34874	-0.8893	0.48995	T	0.181	0.52752	T	10	0.29705507	0.47268	T	0.02959	0.52069	D	0.221	0.51721	0.428	0.47515	0.883968086583	0.88283	0.22016656176351648	0.21932	0.287156622262	0.31114	0.499368548393	0.38740	T	0.174941	0.52435	T	-0.151071	0.28145	T	-0.454779	0.27170	T	0.436582805701969	0.30303	T	0.412159	0.10706	T	0.15539882	0.35124	0.1637786	0.37975	0.15539882	0.35124	0.1637786	0.37974	-4.236	0.27270	T	0.5630741781228765	0.63069	0.365	0.57511	A	.	.	2.795974	0.36766	20.3	0.97109357410951325	0.32404	0.92737	0.56423	D	AEFDBIJ	0.372570	0.45816	N	-0.134689790159026	0.35889	2.067196	-0.0537840709622286	0.37326	2.184045	0.999998228430758	0.74766	0.581397	0.33459	0	0.627178	0.54094	0	0.527494	0.11647	0	0.622129	0.49086	0	.	.	5.24	4.35	0.51454	5.564000	0.67060	5.455000	0.48656	-0.148000	0.12190	1.000000	0.71638	1.000000	0.68203	0.588000	0.31090	0.0:0.1524:0.8476:0.0	14.048	0.64238	940	0.13648	PKD/Chitinase 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	.	.	.	.	.	.	.	.	0.05263	3399.81	36	chr7	47905259	.	G	C	3399.81	.	AC=2;AF=0.053;AN=38;DP=728;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=31.77;SOR=1.008	GT:AD:DP:GQ:PL	1/1:0,107:107:99:3427,321,0	18	1	0	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	.	.	.	.	.	.	.	.	0.3333	1133.83	136	chr7	48103309	.	A	G	1133.83	.	AC=12;AF=0.333;AN=36;BaseQRankSum=-1.526;DP=1709;ExcessHet=11.1788;FS=109.594;InbreedingCoeff=-0.4559;MLEAC=12;MLEAF=0.333;MQ=60;MQRankSum=0;QD=1.01;ReadPosRankSum=0.783;SOR=10.978	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:69,20:89:99:0|1:48103308_C_T:139,0,2081:48103308	6	0	12	1
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	.	.	.	.	.	.	.	.	0.2353	1577.5	244	chr7	50368104	.	C	G	1577.5	.	AC=8;AF=0.235;AN=34;BaseQRankSum=-4.459;DP=2555;ExcessHet=4.0268;FS=190.894;InbreedingCoeff=-0.3109;MLEAC=9;MLEAF=0.265;MQ=60;MQRankSum=0;QD=1.13;ReadPosRankSum=2.98;SOR=12.201	GT:AD:DP:GQ:PL	0/1:119,32:167:99:261,0,3841	9	0	8	2
chr7	76285803	76285803	G	C	exonic	SRRM3	.	nonsynonymous SNV	SRRM3:NM_001110199:exon15:c.G1922C:p.S641T,SRRM3:NM_001291831:exon16:c.G2001C:p.Q667H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.183684319355	.	.	0.0005	0	0.0030	0	0	0.0008	0	0.0003	9.06e-05	14	154602	rs782174489	0.0003	0.0003	0.0002	0.0003	0.0004	0.0002	0.0002	0.0003	0.0002	0	0	0	0	0.0003	0	0.0003	0.0004	0.0004	0.0003	0.0003	0.0003	0.0003	0.0006	0.0002	0.0002	0.0005	0.0004	0	0	0	0	0	0.0003	0	0.0006	0.0005	0.0002	.	.	.	0.109	0.37449	T	.	.	.	.	.	.	0.003878	0.34390	N	0.126684	0.858532	0.81001	D	.	.	.	.	.	.	.	.	.	0.209	0.23253	-0.8116	0.54454	T	0.145	0.46841	T	8	0.020020008	0.00455	T	0.183684	0.85701	D	.	.	.	.	0.043077524339	0.03247	0.49180484361985083	0.49101	.	.	0.436711192131	0.30128	T	.	.	.	-0.295992	0.09042	T	-0.254297	0.49391	T	0.0635122358798981	0.07709	T	0.358264	0.08182	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.147	0.32420	B	.	.	3.858915	0.55945	23.7	0.88000479937061837	0.17641	0.95856	0.66447	D	AEFBI	0.564078	0.57101	D	-0.116500753089561	0.36674	2.123042	-0.0234057964153684	0.38661	2.280892	0.792342658820242	0.24037	0.695654	0.57023	0	0.610034	0.51514	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	4.1	3.21	0.35933	5.890000	0.69515	9.904000	0.82373	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0982:0.0:0.9018:0.0	10.502	0.44000	789	0.46346	.	.	.	.	.	.	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	0.001117	0.000000	0.006270	0.000000	0.000000	0.000000	0.003378	0.004132	0.02632	688.33	36	chr7	76285803	.	G	C	688.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.55;DP=694;ExcessHet=0;FS=3.357;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.12;ReadPosRankSum=0.351;SOR=1.071	GT:AD:DP:GQ:PL	0/1:41,27:68:99:702,0,933	18	0	1	0
chr7	77052976	77052976	C	G	exonic	SPDYE18	.	nonsynonymous SNV	SPDYE18:NM_001351348:exon5:c.G752C:p.R251P	.	417	1096	8	0	1	9	0.00363636	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs199913970	0.0019	0.0034	0.0019	0.0019	0.0036	0.0019	0.0018	0.0023	0.0019	0.0010	0.0024	0.0088	0	0.0006	0.0036	0.0019	0.0030	0.0007	0.0032	0.0048	0.0035	0.0030	0.0045	0.0030	0.0029	0.0041	0.0039	0.0015	0	0.0042	0.0114	0	0.0003	0.0137	0.0045	0.0043	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	.	.	.	.	.	.	.	.	0.02632	805.33	70	chr7	77052976	.	C	G	805.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.062;DP=1042;ExcessHet=0;FS=7.067;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=37.8;MQRankSum=-1.592;QD=6.66;ReadPosRankSum=0.65;SOR=1.485	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:92,29:121:99:0|1:77052956_T_C:819,0,3461:77052956	18	0	1	0
chr7	80664457	80664457	A	G	exonic	CD36	.	nonsynonymous SNV	CD36:NM_001371080:exon4:c.A196G:p.I66V,CD36:NM_001127444:exon5:c.A661G:p.I221V,CD36:NM_001289908:exon5:c.A661G:p.I221V,CD36:NM_001289909:exon5:c.A481G:p.I161V,CD36:NM_001289911:exon5:c.A433G:p.I145V,CD36:NM_001127443:exon6:c.A661G:p.I221V,CD36:NM_000072:exon7:c.A661G:p.I221V,CD36:NM_001001547:exon7:c.A661G:p.I221V,CD36:NM_001001548:exon7:c.A661G:p.I221V,CD36:NM_001371074:exon7:c.A661G:p.I221V,CD36:NM_001371075:exon7:c.A661G:p.I221V,CD36:NM_001371077:exon7:c.A661G:p.I221V,CD36:NM_001371078:exon7:c.A661G:p.I221V,CD36:NM_001371079:exon7:c.A559G:p.I187V,CD36:NM_001371081:exon7:c.A196G:p.I66V	Platelet glycoprotein IV deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.131	0.00955971203294	.	.	1.651e-05	0	0	0	0	3.003e-05	0	0	1.29e-05	2	154602	rs747606498	1.956e-05	2.463e-05	1.673e-05	2.24e-05	0.0004	1.356e-05	1.168e-05	6.198e-05	2.56e-05	0	2.241e-05	0	0	0	0.0004	1.659e-05	8.415e-05	2.337e-05	1.315e-05	1.314e-05	0	2.69e-05	4.826e-05	2.18e-06	8.2e-07	8e-06	2.99e-06	4.826e-05	0	0	0	0	0	0	0	0	0	0.216	0.20230	T	0.143	0.42086	T	0.039	0.21116	B	0.094	0.30180	B	0.000000	0.84330	N	0.044092	0.998087	0.44492	D	2.6	0.76081	M	-0.69	0.72678	T	-0.36	0.16598	N	0.406	0.45709	-0.7732	0.56681	T	0.279	0.65129	T	9	0.2876455	0.46347	T	0.00956	0.25016	T	0.131	0.35738	0.677	0.81496	0.277317399466	0.27352	0.7459692388691413	0.74542	4.03417366996E-4	0.00045	0.362220704556	0.19709	T	0.075591	0.35214	T	-0.139056	0.30042	T	-0.30707	0.43972	T	0.0597249390959917	0.07125	T	0.828517	0.49813	T	0.33171618	0.55611	0.14658459	0.34721	0.33171618	0.55611	0.14658459	0.34720	-4.342	0.35419	T	0.33627854370744503	0.43418	0.127	0.32493	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	1.242378	0.16382	12.50	0.96570363766260792	0.30293	0.82096	0.41377	D	AEFBCI	0.641502	0.61881	D	-0.213720178573552	0.32571	1.838248	-0.12685213493	0.34311	1.972278	0.993322777010448	0.33171	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	5.64	3.31	0.37025	2.952000	0.48790	0.091000	0.14516	0.756000	0.94297	1.000000	0.71638	0.000000	0.08366	0.370000	0.26111	0.8484:0.0:0.1516:0.0	8.977	0.35103	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	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1890.33	37	chr7	80664457	.	A	G	1890.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.829;DP=758;ExcessHet=0;FS=3.138;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.9;ReadPosRankSum=-1.171;SOR=0.794	GT:AD:DP:GQ:PL	0/1:55,81:136:99:1904,0,1349	18	0	1	0
chr7	82955677	82955677	C	T	exonic	PCLO	.	nonsynonymous SNV	PCLO:NM_014510:exon5:c.G5276A:p.R1759Q,PCLO:NM_033026:exon5:c.G5276A:p.R1759Q	.	430	1090	2	0	0	2	0.00091659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.296	0.00556157665291	.	.	.	.	.	.	.	.	.	.	.	.	.	rs959718398	9.578e-06	9.577e-06	6.807e-06	1.238e-05	0.0002	5.56e-06	4.35e-06	2.194e-05	1.43e-05	0	2.236e-05	0	0	1.873e-05	0.0002	5.396e-06	0	5.797e-05	1.315e-05	1.313e-05	1.285e-05	1.346e-05	2.941e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.941e-05	0	0	0.003	0.68238	D	0.014	0.69154	D	1.0	0.90584	D	0.947	0.68407	D	.	.	.	.	0.972296	0.38935	D	.	.	.	1.69	0.27032	T	-3.27	0.65512	D	0.805	0.80083	-0.9889	0.32878	T	0.103	0.37919	T	9	0.61454415	0.67631	D	0.005562	0.14349	T	0.296	0.61616	0.12	0.02719	0.614425270908	0.61131	0.07654644654567784	0.07590	0.0397582316544	0.04249	0.598177373409	0.52647	T	.	.	.	-0.0129165	0.49855	T	-0.159476	0.58399	T	0.582097850882153	0.35699	D	0.999736	0.99939	D	0.35886255	0.57749	0.41968146	0.65954	0.35886255	0.57749	0.41968146	0.65954	-9.437	0.70467	D	.	.	0.404	0.59788	A	.;.	.;.	3.517838	0.49300	22.8	0.99108918608595531	0.52674	0.87218	0.46692	D	AEFBI	0.419305	0.48658	N	0.539370119212796	0.69436	5.356776	0.578500454256428	0.73400	5.96443	0.884947274167912	0.25706	0.553676	0.25195	0	0.547309	0.14657	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	5.56	5.56	0.83678	3.868000	0.55768	5.987000	0.52266	0.599000	0.40250	0.978000	0.35038	1.000000	0.68203	0.941000	0.48210	0.0:1.0:0.0:0.0	19.521	0.95177	887	0.27948	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1798.33	36	chr7	82955677	.	C	T	1798.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.47;DP=864;ExcessHet=0;FS=0.658;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.05;ReadPosRankSum=-0.288;SOR=0.579	GT:AD:DP:GQ:PL	0/1:64,64:128:99:1812,0,1557	18	0	1	0
chr7	87897334	87897334	G	A	exonic	DBF4	.	startloss	DBF4:NM_001318061:exon8:c.G3A:p.M1?,DBF4:NM_006716:exon8:c.G675A:p.M225I	.	447	1072	3	0	0	3	0.0013973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.00488380157939	0.0063	0.00179712	0.0057	0.0011	0.0022	0	0.0076	0.0086	0.0066	0.0017	0.0054656	845	154602	rs61758726	0.0069	0.0070	0.0071	0.0067	0.0076	0.0068	0.0068	0.0074	0.0074	0.0013	0.0039	0.0215	2.529e-05	0.0063	0.0012	0.0076	0.0076	0.0013	0.0062	0.0062	0.0061	0.0062	0.0091	0.0058	0.0057	0.0079	0.0077	0.0014	0	0.0091	0.0193	0	0.0079	0	0.0085	0.0033	0.0012	0.26	0.16574	T	0.483	0.11795	T	0.0	0.02946	B	0.001	0.04355	B	0.605952	0.05673	N	1.175560	1	0.08975	N	1.74	0.45129	L	2.82	0.10871	T	-0.75	0.21003	N	0.253	0.28616	-0.9478	0.41347	T	0.017	0.06855	T	10	0.0051734746	0.00112	T	0.004884	0.12255	T	0.022	0.04323	0.272	0.22210	0.283272178027	0.27931	0.19155782982047556	0.19073	0.165430239259	0.18659	0.274327099323	0.06713	T	0.026104	0.19387	T	-0.632733	0.00092	T	-0.675114	0.07284	T	0.00153893151557147	0.00016	T	0.480052	0.14488	T	0.26268485	0.49331	0.23954901	0.49306	0.26268485	0.49331	0.23954901	0.49305	-3.076	0.11022	T	.	.	0.129	0.27463	B	.	.	0.698516	0.10673	7.369	0.82595407692584066	0.14274	0.02206	0.06433	N	AEFBI	0.021725	0.01000	N	-1.03352269201058	0.07915	0.3693176	-1.03550254881733	0.09011	0.4460105	0.337346825716218	0.19548	0.651	0.46895	0	0.546412	0.12157	0	0.65145	0.50148	0	0.528226	0.09195	0	.	.	5.34	-1.61	0.07951	-0.300000	0.08280	0.943000	0.22867	-0.200000	0.08971	0.001000	0.13787	0.097000	0.22620	0.979000	0.57723	0.3786:0.2231:0.3983:0.0	6.448	0.21089	579	0.69780	.	.	.	.	.	.	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	0.006098	0.000000	0.02632	1117.33	33	chr7	87897334	.	G	A	1117.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.326;DP=790;ExcessHet=0;FS=0.833;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.79;ReadPosRankSum=1.23;SOR=0.824	GT:AD:DP:GQ:PL	0/1:37,44:81:99:1131,0,901	18	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	.	.	.	.	.	.	.	.	0.3158	2467.21	234	chr7	93102964	.	C	G	2467.21	.	AC=12;AF=0.316;AN=38;BaseQRankSum=-6.872;DP=2943;ExcessHet=11.1788;FS=134.431;InbreedingCoeff=-0.4896;MLEAC=12;MLEAF=0.316;MQ=60;MQRankSum=0;QD=1.15;ReadPosRankSum=0.682;SOR=12.36	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:140,30:177:99:.:.:355,0,4707:.	7	0	12	0
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	.	.	.	.	.	.	.	.	0.3684	2997.96	237	chr7	93102965	.	C	G	2997.96	.	AC=14;AF=0.368;AN=38;BaseQRankSum=-5.417;DP=3257;ExcessHet=17.0548;FS=143.104;InbreedingCoeff=-0.6131;MLEAC=14;MLEAF=0.368;MQ=60;MQRankSum=0;QD=1.15;ReadPosRankSum=0.833;SOR=12.62	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:134,41:180:99:.:.:449,0,4662:.	5	0	14	0
chr7	98212530	98212530	T	A	exonic	BHLHA15	.	nonsynonymous SNV	BHLHA15:NM_177455:exon2:c.T221A:p.I74N	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.721924741473	.	.	2.635e-05	0	0	0	0	5.001e-05	0	0	6.5e-06	1	154602	rs745635384	2.082e-06	2.052e-06	2.754e-06	1.399e-06	0.0002	5.5e-07	1.5e-07	.	.	0	0	0	0	0	0.0002	9.054e-07	0	1.21e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.28148	T	0.087	0.40747	T	0.003	0.11197	B	0.004	0.10090	B	0.326371	0.14187	N	0.673055	1	0.08975	N	0.345	0.11182	N	-3.14	0.92884	D	1.2	0.01078	N	0.209	0.23253	-0.6662	0.62000	T	0.425	0.76863	T	10	0.12317708	0.23378	T	0.721925	0.97752	D	0.142	0.37995	0.234	0.16305	0.348983352498	0.34513	0.46993354897488004	0.46912	1.25464454883	0.81874	0.841396927834	0.88307	D	0.133762	0.46463	T	-0.0536813	0.43886	T	-0.314886	0.43132	T	0.0323010005587752	0.02355	T	0.19798	0.02209	T	0.05443967	0.10444	0.0695477	0.14668	0.05443967	0.10444	0.0695477	0.14667	-7.866	0.60153	D	.	.	0.225	0.45629	B	.;.	.;.	0.969083	0.13460	9.970	0.88298896210100963	0.17868	0.50378	0.28649	D	AEFDBCI	0.217136	0.34230	N	-1.02743675132891	0.08037	0.3754644	-0.934904998843935	0.11274	0.5733461	0.998837816643202	0.37777	0.660377	0.49826	0	0.694456	0.67091	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	4.39	1.79	0.23992	1.368000	0.33820	0.340000	0.17371	-0.939000	0.02101	0.091000	0.22601	0.000000	0.08366	0.023000	0.12082	0.1683:0.1848:0.0:0.6468	3.384	0.06842	839	0.37672	Myc-type, basic helix-loop-helix (bHLH) domain;Myc-type, basic helix-loop-helix (bHLH) 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	.	.	.	.	.	.	.	.	0.02632	1017.33	38	chr7	98212530	.	T	A	1017.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.75;DP=739;ExcessHet=0;FS=1.878;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.41;ReadPosRankSum=-1.261;SOR=0.996	GT:AD:DP:GQ:PL	0/1:44,38:82:99:1031,0,966	18	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	.	.	.	.	.	.	.	.	0.4737	18116.3	121	chr7	100175805	.	G	C	18116.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-0.889;DP=2073;ExcessHet=38.2876;FS=367.033;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=60;MQRankSum=0;QD=9.32;ReadPosRankSum=0.937;SOR=13.397	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:72,37:109:99:0|1:100175805_G_C:214,0,2369:100175805	1	0	18	0
chr7	100773851	100773851	A	0	exonic	ZAN	.	.	.	.	428	140	242	44	668	998	0.540984	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6579	7629.63	110	chr7	100773851	.	A	*	7629.63	.	AC=25;AF=0.658;AN=38;BaseQRankSum=-1.304;DP=2087;ExcessHet=1.1637;FS=0;InbreedingCoeff=-0.0192;MLEAC=25;MLEAF=0.658;MQ=60;MQRankSum=0;QD=3.84;ReadPosRankSum=0.752;SOR=0.671	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,103:103:99:1|1:100773849_CCAT_C:4635,310,0:100773849	3	9	7	0
chr7	100787956	100787956	G	0	exonic	ZAN	.	.	.	.	0	48	9	0	169	178	0.0857143	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6842	1912.83	137	chr7	100787956	.	G	*	1912.83	.	AC=26;AF=0.684;AN=38;BaseQRankSum=0.734;DP=2414;ExcessHet=2.8258;FS=4.34;InbreedingCoeff=-0.1515;MLEAC=26;MLEAF=0.684;MQ=60;MQRankSum=0;QD=0.86;ReadPosRankSum=-1.014;SOR=0.992	GT:AD:DP:GQ:PL	1/1:0,108:108:99:4844,332,0	2	9	8	0
chr7	100952945	100952945	C	0	exonic	MUC3A	.	.	.	.	418	423	166	0	515	681	0.164032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	7294.67	944	chr7	100952945	.	C	*	7294.67	.	AC=14;AF=0.368;AN=38;BaseQRankSum=-0.282;DP=12658;ExcessHet=48.2876;FS=0;InbreedingCoeff=-1;MLEAC=14;MLEAF=0.368;MQ=57.98;MQRankSum=-8.296;QD=0.58;ReadPosRankSum=2.64;SOR=0.686	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:432,176:608:99:0|1:100952930_T_C:6090,0,17610:100952930	5	0	14	0
chr7	100953156	100953156	C	0	exonic	MUC3A	.	.	.	.	685	537	148	21	131	321	0.150316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3158	17482.0	771	chr7	100953156	.	C	*	17482.0	.	AC=12;AF=0.316;AN=38;BaseQRankSum=7.09;DP=10360;ExcessHet=48.2876;FS=8.453;InbreedingCoeff=-1;MLEAC=12;MLEAF=0.316;MQ=57.49;MQRankSum=-15.74;QD=1.71;ReadPosRankSum=0.097;SOR=1.242	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:391,122:592:99:0|1:100953098_G_C:3946,0,16051:100953098	7	0	12	0
chr7	100953158	100953158	G	0	exonic	MUC3A	.	.	.	.	651	699	39	0	133	172	0.0271399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4474	1350.84	756	chr7	100953158	.	G	*	1350.84	.	AC=17;AF=0.447;AN=38;BaseQRankSum=3.94;DP=10155;ExcessHet=48.2876;FS=12.382;InbreedingCoeff=-1;MLEAC=17;MLEAF=0.447;MQ=57.51;MQRankSum=-16.03;QD=0.14;ReadPosRankSum=0.292;SOR=1.514	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:386,115:577:99:.:.:3667,0,15862:.	2	0	17	0
chr7	100955917	100955917	G	0	exonic	MUC3A	.	.	.	.	766	657	81	4	14	103	0.0634355	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05882	27427.3	1071	chr7	100955917	.	G	*	27427.3	.	AC=2;AF=0.059;AN=34;BaseQRankSum=0.257;DP=15365;ExcessHet=11.1788;FS=3.902;InbreedingCoeff=-0.52;MLEAC=2;MLEAF=0.059;MQ=56.59;MQRankSum=-14.74;QD=2.67;ReadPosRankSum=1.55;SOR=1.18	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:900,90:1005:99:0|1:100955917_G_*:1070,0,37520:100955917	15	0	2	2
chr7	100995937	100995937	G	T	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.G5374T:p.G1792C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.00612287349775	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.486e-06	5.597e-06	5.469e-06	5.503e-06	7.242e-06	1.97e-06	1.3e-06	2.6e-06	1.71e-06	0	0	0	0	0	0	7.242e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.36113	T	0.025	0.56192	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.895	0.50365	L	2.31	0.16794	T	-0.79	0.21860	N	0.151	0.17278	-0.9845	0.33951	T	0.020	0.08407	T	7	0.08248639	0.13620	T	0.006123	0.16023	T	0.035	0.08770	0.218	0.13932	0.137902524267	0.13322	0.0032500192174785936	0.00303	.	.	0.486316412687	0.36929	T	0.004137	0.03552	T	-0.280191	0.10646	T	-0.640251	0.09650	T	0.0374234216572898	0.03230	T	0.370863	0.11651	T	0.08484297	0.19656	0.04972552	0.07656	0.08484297	0.19655	0.04972552	0.07656	-11.382	0.81711	D	.	.	0.264	0.52614	B	.;.	.;.	1.422400	0.18392	13.71	0.37227393685568511	0.02440	0.00536	0.02476	N	AEFI	0.055904	0.10291	N	-0.942231206196823	0.09868	0.468968	-1.12083333342277	0.07303	0.3546979	1.16466427382349E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.0	-0.193	0.12593	0.521000	0.22601	-2.062000	0.04270	0.385000	0.20450	0.001000	0.13787	0.000000	0.08366	0.005000	0.06747	0.0:0.406:0.594:0.0	4.676	0.12096	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	.	.	.	.	.	.	.	.	0.05263	1722.81	32	chr7	100995937	.	G	T	1722.81	.	AC=2;AF=0.053;AN=38;DP=674;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=40;QD=35.78;SOR=7.569	GT:AD:DP:GQ:PL	1/1:0,43:43:99:1750,129,0	18	1	0	0
chr7	101004436	101004436	G	T	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.G13873T:p.G4625C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.0569942024957	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.783e-06	5.472e-06	7.134e-06	4.396e-06	7.422e-06	2.49e-06	1.8e-06	3.19e-06	2.31e-06	0	0	0	0	0	0	7.422e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.54683	D	0.044	0.49663	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.845	0.48678	L	2.31	0.16794	T	-1.0	0.26422	N	0.08	0.19325	-0.9873	0.33273	T	0.023	0.09878	T	6	0.092942655	0.16407	T	0.056994	0.66806	D	0.027	0.05988	0.227	0.15257	0.183819452728	0.17975	4.6860076071745214E-4	0.00042	.	.	0.56988888979	0.48662	T	0.006485	0.05912	T	-0.30002	0.08658	T	-0.668734	0.07690	T	0.0739150188439588	0.09190	T	0.359964	0.08281	T	0.26903483	0.49976	0.15841709	0.36995	0.26903483	0.49976	0.15841709	0.36994	-12.734	0.88237	D	.	.	0.182	0.39528	B	.;.	.;.	1.580866	0.20228	14.65	0.37768770153843872	0.02508	0.03633	0.08878	N	AEFBI	0.058076	0.10869	N	-0.764042844098718	0.14254	0.7085761	-0.920108990023474	0.11620	0.5930971	1.5846245711235E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.637	0.637	0.16907	2.091000	0.41316	-2.047000	0.04293	0.215000	0.18024	0.177000	0.24026	0.000000	0.08366	0.002000	0.04165	.	.	.	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	.	.	.	.	.	.	.	.	0.05263	4761.81	60	chr7	101004436	.	G	T	4761.81	.	AC=2;AF=0.053;AN=38;DP=1440;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=44.15;QD=34.51;SOR=3.007	GT:AD:DP:GQ:PL	1/1:0,138:138:99:4789,414,0	18	1	0	0
chr7	134304803	134304803	A	C	splicing	SLC35B4	NM_032826:exon4:c.344+2T>G	.	.	.	.	.	.	.	.	.	.	1.0000	0.926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.316836	0.84245	D	0.217336	0.84039	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	5.289619	0.88810	29.7	0.99455780879309608	0.65530	0.99527	0.97087	D	AEFBI	.	.	.	1.06610263300664	0.97454	16.15582	0.904216850025143	0.95753	13.93361	0.999994063816261	0.74766	0.156188	0.03335	0	0.156173	0.03658	0	0.137589	0.03823	0	0.09929	0.02979	0	0.981914	0.87903	5.37	5.37	0.76949	6.543000	0.73776	9.281000	0.79714	0.684000	0.82519	1.000000	0.71638	1.000000	0.68203	0.766000	0.36367	1.0:0.0:0.0:0.0	15.324	0.73853	887	0.27948	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	58.33	66	chr7	134304803	.	A	C	58.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.588;DP=919;ExcessHet=0;FS=229.047;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.73;ReadPosRankSum=0.86;SOR=7.941	GT:AD:DP:GQ:PL	0/1:56,24:80:72:72,0,1006	18	0	1	0
chr7	138739614	138739614	T	C	exonic	ATP6V0A4	.	nonsynonymous SNV	ATP6V0A4:NM_130840:exon14:c.A1498G:p.S500G,ATP6V0A4:NM_130841:exon14:c.A1498G:p.S500G,ATP6V0A4:NM_020632:exon15:c.A1498G:p.S500G	Renal tubular acidosis, distal, autosomal recessive	1	1494	26	1	0	28	0.00928382	.	.	YES	309838	not_specified|not_provided|Autosomal_recessive_distal_renal_tubular_acidosis|Distal_Renal_Tubular_Acidosis,_Recessive	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0018440,MedGen:C1864498,Orphanet:402041|MedGen:CN239177	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.351	.	0.0002	0.00279553	0.0027	0	0.0008	0	0	0.0005	0.0066	0.0172	0.0023156	358	154602	rs142818468	0.0013	0.0013	0.0008	0.0018	0.0163	0.0013	0.0012	0.0156	0.0153	0.0002	0.0006	3.826e-05	0	1.873e-05	0.0040	0.0003	0.0012	0.0163	0.0008	0.0008	0.0007	0.0010	0.0118	0.0007	0.0007	0.0094	0.0085	7.219e-05	0	0.0012	0	0	0	0	0.0007	0.0014	0.0118	0.038	0.42783	D	0.126	0.35205	T	0.0	0.02946	B	0.002	0.06944	B	0.101629	0.19830	N	0.526300	1	0.08975	N	0.285	0.10073	N	-2.04	0.85703	D	-1.13	0.29114	N	0.212	0.23632	-0.8450	0.52311	T	0.216	0.57732	T	10	0.0043908656	0.00089	T	.	.	.	0.351	0.67234	.	.	0.759034660513	0.75684	0.39776035607268057	0.39691	0.177074262078	0.19922	0.288669228554	0.08729	T	0.158114	0.50101	T	-0.47229	0.00823	T	-0.438214	0.29010	T	0.0199759674891632	0.00698	T	0.169783	0.01594	T	0.13728155	0.31792	0.07137801	0.15278	0.104006514	0.24584	0.06865264	0.14364	-4.465	0.30428	T	0.21579293709666367	0.29017	0.089	0.13550	B	.;.;.;.;.;.	.;.;.;.;.;.	2.459375	0.31677	18.81	0.96525507524474463	0.30133	0.75042	0.36726	D	AEFBHCI	0.422363	0.48840	N	-0.650970891474921	0.17432	0.8969671	-0.49214327649808	0.22369	1.214642	0.999778323642658	0.42865	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.25	5.25	0.73169	5.200000	0.64994	5.035000	0.46860	0.665000	0.62972	0.724000	0.28861	0.929000	0.28499	0.017000	0.10941	0.0:0.1561:0.0:0.8439	7.847	0.28594	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	0.004532	0.000000	0.004076	0.005848	0.000000	0.000000	0.009146	0.003788	0.07895	2917.77	33	chr7	138739614	.	T	C	2917.77	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.266;DP=705;ExcessHet=0;FS=0;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=23.34;ReadPosRankSum=1.55;SOR=0.675	GT:AD:DP:GQ:PL	1/1:0,61:61:99:1792,183,0	17	1	1	0
chr7	141764263	141764263	G	A	exonic	TAS2R3	.	stopgain	TAS2R3:NM_016943:exon1:c.G105A:p.W35X	.	412	1109	1	0	0	1	0.000450653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0018	0.000599042	0.0012	0.0010	0.0006	0	0	0.0019	0.0011	0.0001	0.001313	203	154602	rs138466830	0.0025	0.0025	0.0026	0.0025	0.0031	0.0025	0.0024	0.0030	0.0029	0.0009	0.0013	0	0	0.0002	0.0007	0.0031	0.0029	0.0002	0.0019	0.0019	0.0019	0.0019	0.0045	0.0017	0.0016	0.0037	0.0033	0.0011	0	0.0045	0	0	0.0002	0	0.0025	0.0024	0	.	.	.	.	.	.	.	.	.	.	.	.	0.006569	0.31942	N	0.296018	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.14	0.13911	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.247595	0.78374	D	0.577639	0.96417	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant	Low	8.925578	0.98216	39	0.99464074205427988	0.65944	0.92480	0.55810	D	AEFBI	0.115098	0.22645	N	0.719594889146549	0.80917	7.401839	0.591738696741351	0.74346	6.121431	0.0845637343144241	0.15959	0.475973	0.10046	0	0.446627	0.06534	0	0.670488	0.60580	0	0.714379	0.83352	0	.	.	6.17	4.36	0.51643	1.160000	0.31372	.	.	0.676000	0.76740	0.891000	0.31220	1.000000	0.68203	0.996000	0.76049	0.1458:0.0:0.8542:0.0	11.812	0.51458	900	0.24599	.	.	.	.	.	.	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	0.002014	0.005051	0.002717	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	2027.33	42	chr7	141764263	.	G	A	2027.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.032;DP=1089;ExcessHet=0;FS=0.543;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.19;ReadPosRankSum=1.15;SOR=0.643	GT:AD:DP:GQ:PL	0/1:116,83:199:99:2041,0,3107	18	0	1	0
chr7	142960940	142960940	G	A	exonic	KEL	.	nonsynonymous SNV	KEL:NM_000420:exon4:c.C388T:p.R130W	.	416	1104	1	1	0	3	0.00135685	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.0429833690726	.	0.000798722	0.0003	0	8.637e-05	0.0020	0	4.495e-05	0	0.0008	0.0002458	38	154602	rs184131044	0.0001	0.0001	8.712e-05	0.0001	0.0010	9.805e-05	9.221e-05	0.0008	0.0007	0	2.236e-05	0	0.0010	0	0	4.406e-05	0.0001	0.0007	0.0001	0.0001	7.709e-05	0.0001	0.0021	7.087e-05	5.744e-05	0.0012	0.0009	0	0	6.535e-05	0	0.0021	0	0	0	0.0005	0.0008	0.118	0.28148	T	0.14	0.33554	T	0.274	0.31856	B	0.09	0.29851	B	0.323161	0.14237	N	0.616178	1	0.08975	N	1.555	0.39373	L	-1.08	0.77078	T	-4.34	0.82830	D	0.306	0.34552	-1.0160	0.25013	T	0.096	0.36081	T	10	0.01728043	0.00368	T	0.042983	0.60749	D	0.182	0.45420	.	.	0.826507983924	0.82486	0.6054879279944557	0.60479	0.0744873411193	0.08358	0.22043389082	0.01335	T	0.664506	0.89971	D	-0.343539	0.05147	T	-0.301624	0.44553	T	0.0381856219460043	0.03364	T	0.820318	0.47908	T	0.13422726	0.31194	0.08323381	0.19059	0.13422726	0.31194	0.08323381	0.19058	-6.566	0.50793	T	.	.	0.096	0.28319	B	.;.;.	.;.;.	1.785917	0.22706	15.73	0.89690591686997556	0.19016	0.12971	0.17588	N	AEFBCI	0.301353	0.40989	N	-0.516834919168885	0.21535	1.143615	-0.631271228875138	0.18691	0.9996386	0.999730663542596	0.42341	0.533608	0.22052	0	0.615948	0.52940	0	0.685742	0.62368	0	0.584449	0.35598	0	.	.	5.84	1.87	0.24559	0.428000	0.21114	.	.	0.676000	0.76740	0.004000	0.16614	0.091000	0.22535	0.117000	0.19042	0.0825:0.0:0.4634:0.4541	6.733	0.22581	661	0.61838	Peptidase M13, N-terminal domain;Peptidase M13, N-terminal domain;Peptidase M13, N-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	.	.	.	.	.	.	.	.	0.02632	1377.33	33	chr7	142960940	.	G	A	1377.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.36;DP=769;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.28;ReadPosRankSum=0.401;SOR=0.748	GT:AD:DP:GQ:PL	0/1:75,59:134:99:1391,0,1727	18	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	.	.	.	.	.	.	.	.	0.25	2076.13	76	chr7	143478290	.	A	G	2076.13	.	AC=9;AF=0.25;AN=36;BaseQRankSum=-3.068;DP=1751;ExcessHet=5.3738;FS=194.204;InbreedingCoeff=-0.3257;MLEAC=9;MLEAF=0.25;MQ=60;MQRankSum=0;QD=2.12;ReadPosRankSum=1.27;SOR=10.928	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:67,22:89:99:.:.:368,0,2257:.	9	0	9	1
chr7	143960479	143960479	G	C	exonic	OR2F1	.	nonsynonymous SNV	OR2F1:NM_012369:exon1:c.G509C:p.R170T	.	420	1095	6	1	0	8	0.00363967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.00153084040938	0.0002	0.000798722	0.0022	0.0003	0.0006	0.0001	0	0.0036	0.0044	0.0006	0.0019857	307	154602	rs151074585	0.0019	0.0019	0.0019	0.0020	0.0062	0.0019	0.0018	0.0046	0.0041	0.0003	0.0011	0.0239	0	9.36e-05	0.0062	0.0017	0.0027	0.0008	0.0019	0.0019	0.0021	0.0016	0.0024	0.0017	0.0016	0.0021	0.0020	0.0002	0.0011	0.0009	0.0248	0.0002	0	0.0136	0.0024	0.0038	0.0002	.	.	.	.	.	.	0.0	0.02946	B	0.0	0.01387	B	0.536154	0.11585	N	0.759794	1	0.08975	N	1.105	0.28596	L	.	.	.	.	.	.	.	.	-1.0343	0.19078	T	0.046	0.19680	T	10	0.004550338	0.00094	T	0.001531	0.02394	T	.	.	.	.	.	.	0.14138761019478494	0.14061	.	.	0.215875655413	0.01085	T	0.001913	0.01327	T	-0.638109	0.00085	T	-0.694924	0.06107	T	0.000408677296945825	0.00003	T	.	.	.	0.075677715	0.17066	0.046788536	0.06597	0.075677715	0.17066	0.046788536	0.06597	-4.331	0.28610	T	.	.	0.106	0.19639	B	.;.	.;.	0.155675	0.05473	1.939	0.41681102300012435	0.03023	0.08868	0.14732	N	AEFI	0.044541	0.07179	N	-1.25506687048483	0.04233	0.1906543	-1.24895860386132	0.05146	0.2445262	1.1627017477394E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.37	0.236	0.14733	0.057000	0.14157	-7.646000	0.01114	-0.895000	0.02364	0.000000	0.06391	0.000000	0.08366	0.069000	0.16583	0.2724:0.4177:0.2377:0.0722	4.231	0.10054	878	0.29785	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006042	0.000000	0.004076	0.023392	0.000000	0.000000	0.006098	0.003788	0.02632	4410.33	33	chr7	143960479	.	G	C	4410.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.71;DP=854;ExcessHet=0;FS=8.335;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=56.93;MQRankSum=-9.236;QD=19.26;ReadPosRankSum=-0.331;SOR=0.719	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:115,114:229:99:0|1:143960479_G_C:4424,0,4455:143960479	18	0	1	0
chr7	143960480	143960480	A	T	exonic	OR2F1	.	nonsynonymous SNV	OR2F1:NM_012369:exon1:c.A510T:p.R170S	.	421	1094	6	1	0	8	0.00364299	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.000883077156626	.	0.000798722	0.0022	0.0003	0.0006	0.0001	0	0.0036	0.0044	0.0006	0.0019857	307	154602	rs61731396	0.0019	0.0019	0.0019	0.0020	0.0062	0.0019	0.0018	0.0046	0.0041	0.0003	0.0011	0.0239	0	9.36e-05	0.0062	0.0017	0.0027	0.0008	0.0019	0.0019	0.0021	0.0016	0.0024	0.0017	0.0016	0.0021	0.0020	0.0002	0.0011	0.0009	0.0248	0.0002	0	0.0136	0.0024	0.0038	0.0002	.	.	.	.	.	.	0.0	0.02946	B	0.0	0.01387	B	0.536154	0.11585	N	0.759794	1	0.08975	N	0.6	0.15550	N	.	.	.	.	.	.	.	.	-0.9720	0.36776	T	0.030	0.13023	T	10	0.0036379397	0.00066	T	8.83E-4	0.00800	T	.	.	0.454	0.51775	.	.	0.1354492096293793	0.13468	.	.	0.20867651701	0.00756	T	0.001247	0.00734	T	-0.639018	0.00084	T	-0.69623	0.06035	T	0.0144220716429688	0.00291	T	.	.	.	0.16432382	0.36632	0.056810606	0.10218	0.16432382	0.36631	0.056810606	0.10218	-3.616	0.18088	T	.	.	0.133	0.28750	B	.;.	.;.	-1.565289	0.00258	0.004	0.66386461164890254	0.08044	0.03702	0.08981	N	AEFI	0.080821	0.16347	N	-2.31939879886636	0.00041	0.001764759	-2.43342448466552	0.00033	0.001447302	0.99358201896185	0.33273	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.19	-10.4	0.00257	-5.233000	0.00165	-11.237000	0.00622	-2.651000	0.00223	0.000000	0.06391	0.000000	0.08366	0.051000	0.15275	0.2972:0.1391:0.2308:0.3329	0.452	0.00468	878	0.29785	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006042	0.000000	0.004076	0.023392	0.000000	0.000000	0.006098	0.003788	0.02632	4410.33	33	chr7	143960480	.	A	T	4410.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.82;DP=856;ExcessHet=0;FS=8.335;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=56.96;MQRankSum=-9.236;QD=19.26;ReadPosRankSum=-0.214;SOR=0.719	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:115,114:229:99:0|1:143960479_G_C:4424,0,4455:143960479	18	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	0.4737	21366.3	445	chr7	152229940	.	A	G	21366.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-0.758;DP=6155;ExcessHet=38.2876;FS=0;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=44.67;MQRankSum=0.851;QD=3.8;ReadPosRankSum=0.116;SOR=0.691	GT:AD:DP:GQ:PL	0/1:244,81:325:99:1267,0,8335	1	0	18	0
chr7	155741978	155741978	A	G	exonic	RBM33	.	nonsynonymous SNV	RBM33:NM_053043:exon13:c.A2209G:p.I737V	.	436	1081	5	0	0	5	0.00230734	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	.	.	0.00379393	0.0025	0	0.0010	0	0	0.0002	0.0033	0.0171	0.0022186	343	154602	rs372610014	0.0012	0.0012	0.0007	0.0016	0.0168	0.0011	0.0011	0.0161	0.0158	8.961e-05	0.0009	0.0018	0.0001	0	0.0007	4.947e-05	0.0013	0.0168	0.0007	0.0007	0.0004	0.0009	0.0170	0.0006	0.0005	0.0140	0.0129	2.407e-05	0	0.0005	0.0009	0	0	0	5.88e-05	0.0009	0.0170	0.465	0.08609	T	0.98	0.02423	T	0.234	0.30717	B	0.061	0.26820	B	0.254976	0.15431	N	0.624848	1	0.08975	N	1.01	0.25309	L	0.99	0.41750	T	-0.04	0.07590	N	0.086	0.06322	-1.0529	0.13601	T	0.050	0.21378	T	10	0.0026354492	0.00041	T	.	.	.	0.016	0.02506	0.117	0.02508	0.221890330934	0.21812	0.08195250023183537	0.08130	0.157817374054	0.17821	0.250179409981	0.03787	T	0.02169	0.16847	T	-0.659164	0.00064	T	-0.705994	0.05504	T	0.00357622085076583	0.00038	T	0.521048	0.16963	T	0.009982095	0.00005	0.016186789	0.00013	0.009982095	0.00005	0.016186789	0.00013	-1.841	0.02634	T	.	.	0.057	0.00553	B	.	.	-1.301927	0.00437	0.009	0.42504034581531913	0.03138	0.08404	0.14338	N	AEFDGBHCI	0.021757	0.01005	N	-1.35900127845469	0.03033	0.1348383	-1.43453454801127	0.02913	0.1349111	0.999999999799867	0.74766	0.730579	0.87903	0	0.749866	0.99406	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.47	-5.79	0.02162	-0.402000	0.07284	-2.296000	0.03936	-0.107000	0.15377	0.000000	0.06391	0.000000	0.08366	0.028000	0.12845	0.3212:0.2369:0.4418:0.0	8.015	0.29537	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	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2656.33	33	chr7	155741978	.	A	G	2656.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.24;DP=863;ExcessHet=0;FS=1.071;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.77;ReadPosRankSum=0.194;SOR=0.811	GT:AD:DP:GQ:PL	0/1:102,106:208:99:2670,0,2535	18	0	1	0
chr7	155800179	155800179	-	GGGCT	exonic	SHH	.	frameshift insertion	SHH:NM_001310462:exon4:c.367_368insAGCCC:p.P123Qfs*34	Holoprosencephaly 3, Autosomal dominant;Microphthalmia with coloboma 5, Autosomal dominant;Schizencephaly;Single median maxillary central incisor, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2236.29	37	chr7	155800179	.	G	GGGGCT	2236.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.615;DP=817;ExcessHet=0;FS=4.42;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.78;ReadPosRankSum=-1.47;SOR=0.446	GT:AD:DP:GQ:PL	0/1:82,93:175:99:2250,0,3121	18	0	1	0
chr7	158735562	158735562	C	T	exonic	ESYT2	.	nonsynonymous SNV	ESYT2:NM_020728:exon20:c.G2383A:p.D795N,ESYT2:NM_001367773:exon21:c.G2446A:p.D816N	.	428	1090	4	0	0	4	0.0018315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.428	0.112495463134	0.0012	0.000599042	0.0012	0	0.0012	0	0	0.0011	0.0022	0.0036	0.0010673	165	154602	rs139531934	0.0007	0.0007	0.0006	0.0008	0.0039	0.0006	0.0006	0.0036	0.0034	2.987e-05	0.0009	0.0119	0	1.872e-05	0.0014	0.0002	0.0012	0.0039	0.0007	0.0006	0.0006	0.0007	0.0025	0.0005	0.0005	0.0014	0.0011	4.81e-05	0	0.0005	0.0101	0	0	0	0.0006	0.0014	0.0025	0.005	0.72154	D	0.006	0.70582	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	-0.36	0.68754	T	-3.83	0.73579	D	0.792	0.79696	-0.1774	0.78246	T	0.429	0.77160	T	10	0.015998662	0.00336	T	0.112495	0.79066	D	0.428	0.73517	.	.	0.665914354922	0.66310	.	.	0.742370381414	0.63329	0.821499586105	0.85257	D	0.16184	0.50625	T	-0.321982	0.06736	T	-0.236119	0.51177	T	0.109625920653343	0.13384	T	0.949405	0.80515	D	.	.	.	.	.	.	.	.	-12.346	0.86495	D	.	.	0.979	0.90907	P	.;.;.	.;.;.	4.069308	0.60449	24.2	0.99809048523561794	0.89353	0.96288	0.68409	D	AEFDBCI	0.875214	0.79852	D	0.510739021750627	0.67722	5.119929	0.426275893456407	0.63206	4.549981	0.999999999999998	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.735409	0.98432	0	.	.	5.59	5.59	0.84677	7.409000	0.79273	7.632000	0.62779	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.007000	0.07825	0.0:1.0:0.0:0.0	18.577	0.91115	835	0.38313	.;C2 domain|C2 domain|C2 domain|Extended synaptotagmin, C-terminal C2 domain;C2 domain|C2 domain|C2 domain|Extended synaptotagmin, C-terminal C2 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.008621	0.003049	0.003788	0.02632	2077.33	51	chr7	158735562	.	C	T	2077.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.44;DP=1086;ExcessHet=0;FS=0.569;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.44;ReadPosRankSum=0.461;SOR=0.767	GT:AD:DP:GQ:PL	0/1:84,83:167:99:2091,0,1877	18	0	1	0
chr8	23289894	23289894	C	T	exonic	R3HCC1	.	nonsynonymous SNV	R3HCC1:NM_001136108:exon4:c.C277T:p.P93S,R3HCC1:NM_001301650:exon4:c.C277T:p.P93S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.0473274804046	.	.	0.0001	0	0	0	0.0008	0	0	0	6.5e-06	1	154602	rs758607004	3.924e-05	3.694e-05	3.296e-05	4.57e-05	0.0004	3.074e-05	2.753e-05	6.202e-05	3.059e-05	6.35e-05	0	0	0	0	0.0004	4.467e-05	3.475e-05	0	1.97e-05	1.97e-05	0	4.032e-05	4.409e-05	5.24e-06	2.45e-06	1.17e-05	6.25e-06	0	0	0	0	0	0	0	4.409e-05	0	0	0.381	0.11156	T	0.282	0.21545	T	.	.	.	.	.	.	0.371689	0.13518	N	0.739029	1	0.81001	D	.	.	.	2.56	0.13673	T	-1.51	0.36787	N	0.114	0.17140	-1.0812	0.07118	T	0.050	0.21143	T	7	0.07470012	0.11452	T	0.047327	0.62870	D	0.100	0.28662	0.286	0.24440	0.0551355673512	0.04727	0.37116697371024143	0.37030	.	.	.	.	.	0.025839	0.19240	T	-0.40373	0.02188	T	-0.627323	0.10619	T	0.0762562975287437	0.09501	T	0.70393	0.31676	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.09772	B	.;.;.;.;.;.	.;.;.;.;.;.	0.809397	0.11805	8.374	0.99186359232798638	0.54848	0.52871	0.29235	D	AEFBCI	0.179369	0.30666	N	0.115804457336783	0.47199	2.949062	0.164046205031514	0.47890	3.012635	0.999999975807942	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.711	0.71501	0	.	.	5.71	4.84	0.62125	0.063000	0.14285	0.107000	0.14728	-0.192000	0.09343	0.098000	0.22752	0.002000	0.18203	0.110000	0.18741	0.0:0.9187:0.0:0.0813	11.893	0.51924	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	.	.	.	.	.	.	.	.	0.02632	2151.33	33	chr8	23289894	.	C	T	2151.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.861;DP=796;ExcessHet=0;FS=7.163;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.06;ReadPosRankSum=-1.258;SOR=0.61	GT:AD:DP:GQ:PL	0/1:67,86:153:99:2165,0,1689	18	0	1	0
chr8	28527847	28527847	G	T	exonic	FZD3	.	nonsynonymous SNV	FZD3:NM_145866:exon4:c.G1087T:p.V363F,FZD3:NM_017412:exon5:c.G1087T:p.V363F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.856	0.192233812332	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	0.996	0.68779	D	0.97	0.72226	D	0.000005	0.62929	D	0.060513	0.999998	0.58761	D	3.005	0.85968	M	-2.39	0.88377	D	-4.29	0.76414	D	0.914	0.91621	0.970	0.96707	D	0.864	0.95482	D	10	0.95573425	0.94935	D	0.192234	0.86232	D	0.856	0.95581	0.806	0.92372	0.981310105081	0.98110	0.9855046504370252	0.98543	1.57217358047	0.88212	0.838374853134	0.87847	D	0.928702	0.98778	D	0.394961	0.89621	D	0.329558	0.89491	D	0.995544016361237	0.87620	D	0.988801	0.96179	D	0.8668001	0.88610	0.7476123	0.85082	0.8668001	0.88612	0.7476123	0.85083	-12.132	0.85488	D	.	.	0.910	0.83497	P	.;.	.;.	4.882442	0.80089	27.2	0.99536052843095268	0.70212	0.96430	0.69100	D	AEFGBI	0.693207	0.65261	D	0.84786619529783	0.88986	9.789655	0.766880888449214	0.87413	9.213232	0.998866385407407	0.37845	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.620846	0.47308	0	.	.	5.11	5.11	0.69188	4.218000	0.58351	11.906000	0.99484	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	17.079	0.86470	835	0.38313	Frizzled/Smoothened, transmembrane domain|GPCR, family 2-like|Frizzled/Smoothened, transmembrane domain;Frizzled/Smoothened, transmembrane domain|GPCR, family 2-like|Frizzled/Smoothened, transmembrane 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	.	.	.	.	.	.	.	.	0.02778	250.71	133	chr8	28527847	.	G	T	250.71	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-5.159;DP=1472;ExcessHet=0;FS=202.726;InbreedingCoeff=-0.0411;MLEAC=1;MLEAF=0.028;MQ=60;MQRankSum=0;QD=1.58;ReadPosRankSum=1.65;SOR=7.053	GT:AD:DP:GQ:PL	0/1:126,33:159:99:264,0,4003	17	0	1	1
chr8	28780872	28780872	G	C	exonic	INTS9	.	nonsynonymous SNV	INTS9:NM_001145159:exon11:c.C1158G:p.H386Q,INTS9:NM_001172562:exon12:c.C1149G:p.H383Q,INTS9:NM_001363038:exon12:c.C1221G:p.H407Q,INTS9:NM_018250:exon12:c.C1221G:p.H407Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.284	0.016436562205	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.053e-06	2.942e-05	2.723e-06	1.375e-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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.007	0.69154	D	0.943	0.53072	P	0.823	0.59197	P	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	1.935	0.51832	L	0.9	0.46412	T	-6.4	0.91184	D	0.958	0.97317	-0.8865	0.49231	T	0.159	0.49296	T	10	0.78347826	0.78049	D	0.016437	0.37697	T	0.284	0.60219	0.331	0.31681	0.611786747218	0.60866	0.7458400941079445	0.74530	1.09661947037	0.77599	0.802756369114	0.82384	T	0.389927	0.75023	T	0.189418	0.72910	D	0.0343095	0.72559	D	0.994060456752777	0.85148	D	0.789321	0.45144	T	0.9127507	0.92552	0.8257955	0.89911	0.9127507	0.92554	0.8257955	0.89912	-11.639	0.83227	D	.	.	0.945	0.89314	P	.;.;.	.;.;.	3.184076	0.43231	21.7	0.99337460911012421	0.60051	0.90823	0.52327	D	AEFBI	0.386581	0.46689	N	0.15838004896007	0.49210	3.123909	0.105560327046998	0.44831	2.757433	0.984078514391494	0.30659	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.97	0.193	0.14419	0.609000	0.23935	1.081000	0.23892	0.676000	0.76740	1.000000	0.71638	0.999000	0.35428	1.000000	0.97212	0.5112:0.0:0.4888:0.0	10.624	0.44686	533	0.73433	Beta-Casp domain|Beta-Casp domain;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.3056	808.56	107	chr8	28780872	.	G	C	808.56	.	AC=11;AF=0.306;AN=36;BaseQRankSum=-3.658;DP=1552;ExcessHet=8.9063;FS=232.795;InbreedingCoeff=-0.3979;MLEAC=10;MLEAF=0.278;MQ=60;MQRankSum=0;QD=0.81;ReadPosRankSum=-0.439;SOR=11.492	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:66,25:91:28:.:.:28,0,1301:.	7	0	11	1
chr8	37842198	37842200	AGA	-	exonic	ADGRA2	.	nonframeshift deletion	ADGRA2:NM_032777:exon19:c.3860_3862del:p.K1288del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0015	0	0.0104	0.0057	.	0	0	0.0020	0.0001876	29	154602	rs745551659	0.0002	0.0002	0.0002	0.0002	0.0046	0.0002	0.0002	0.0040	0.0038	3.257e-05	2.838e-05	0	0.0046	2.174e-05	0.0004	1.857e-05	0.0001	0.0013	0.0002	0.0002	0.0001	0.0002	0.0042	0.0001	0.0001	0.0029	0.0024	2.404e-05	0	6.533e-05	0.0003	0.0042	0	0	0	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	2167.77	43	chr8	37842197	.	GAGA	G	2167.77	.	AC=2;AF=0.053;AN=38;DP=715;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=28.58;SOR=1.007	GT:AD:DP:GQ:PL	1/1:0,49:49:99:2195,147,0	18	1	0	0
chr8	66493691	66493691	G	C	exonic	VXN	.	nonsynonymous SNV	VXN:NM_152765:exon1:c.G43C:p.V15L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.219	0.00547327237093	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.979e-06	0.0002	9.631e-06	8.323e-06	1.164e-05	5.01e-06	3.86e-06	5.37e-06	3.92e-06	0	0	0	0	0	0	1e-05	1.668e-05	1.164e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.116	0.92824	T	0.996	0.90584	D	0.99	0.82059	D	0.000007	0.62929	D	0.000000	0.99932	0.46670	D	.	.	.	.	.	.	-2.35	0.57762	N	0.725	0.82964	-0.6318	0.63494	T	0.303	0.67409	T	9	0.5419149	0.63768	D	0.005473	0.14075	T	0.219	0.51417	0.234	0.16305	0.658285377725	0.65543	0.48710170484580395	0.48630	1.31309391701	0.83265	.	.	.	0.114249	0.49642	T	0.245393	0.78169	D	0.114713	0.77885	D	0.835849516035111	0.48992	D	0.837516	0.52137	T	0.58112	0.71669	0.61174595	0.77411	0.58112	0.71670	0.61174595	0.77412	-3.202	0.12505	T	.	.	0.979	0.91928	P	.;.;.;.	.;.;.;.	4.230900	0.64072	24.7	0.99840759444709359	0.92143	0.98639	0.85009	D	AEFGBHI	0.812472	0.73519	D	0.712960435504671	0.80482	7.303924	0.757067553857114	0.86685	8.968818	0.999999999869192	0.74766	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.98	5.98	0.97147	6.429000	0.73312	11.673000	0.94126	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	18.639	0.91344	632	0.64850	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2778	544.08	93	chr8	66493691	.	G	C	544.08	.	AC=10;AF=0.278;AN=36;BaseQRankSum=-2.074;DP=1191;ExcessHet=6.9875;FS=128.3;InbreedingCoeff=-0.3756;MLEAC=10;MLEAF=0.278;MQ=59.61;MQRankSum=-0.015;QD=0.89;ReadPosRankSum=1.58;SOR=10.814	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:36,12:48:49:.:.:49,0,579:.	8	0	10	1
chr8	67299229	67299229	C	T	exonic	ARFGEF1	.	nonsynonymous SNV	ARFGEF1:NM_006421:exon4:c.G439A:p.V147I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.244	0.00485664365008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.43708	D	0.144	0.33109	T	0.998	0.73220	D	0.995	0.83170	D	0.000000	0.84330	D	0.000000	0.999944	0.51968	D	1.42	0.35681	L	1.82	0.25018	T	-0.83	0.22727	N	0.47	0.50598	-1.0588	0.12058	T	0.129	0.43867	T	10	0.44255733	0.58194	T	0.004857	0.12192	T	0.244	0.55061	0.419	0.46036	0.344740032716	0.34089	0.46458263451071363	0.46377	0.432702769526	0.43444	0.796535730362	0.81436	T	0.173112	0.52185	T	-0.0537433	0.43877	T	-0.314975	0.43122	T	0.922568202018738	0.58277	D	0.989121	0.96387	D	0.31868398	0.54528	0.16852483	0.38818	0.31868398	0.54528	0.16852483	0.38817	-7.853	0.60064	D	.	.	0.089	0.12276	B	.	.	4.127652	0.61742	24.4	0.99858364901069363	0.93729	0.99671	0.98530	D	AEFBI	0.844558	0.76151	D	0.691477747293272	0.79072	7.001596	0.703445623715783	0.82640	7.817407	0.999999999999729	0.74766	0.732398	0.92422	0	0.708844	0.79440	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.15	5.15	0.70287	7.905000	0.86479	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	19.003	0.92819	440	0.80101	Mon2, dimerisation and cyclophilin-binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1786	165.75	17	chr8	67299229	.	C	T	165.75	.	AC=5;AF=0.179;AN=28;BaseQRankSum=-0.465;DP=388;ExcessHet=1.3;FS=182.949;InbreedingCoeff=-0.2845;MLEAC=6;MLEAF=0.214;MQ=60;MQRankSum=0;QD=1.55;ReadPosRankSum=0.447;SOR=8.121	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:16,6:22:24:.:.:24,0,190:.	9	0	5	5
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	0.05263	1216.83	35	chr8	97930977	.	C	T	1216.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.869;DP=709;ExcessHet=0.119;FS=0.775;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.77;ReadPosRankSum=1.53;SOR=0.544	GT:AD:DP:GQ:PL	0/1:32,33:65:99:781,0,809	17	0	2	0
chr8	123681269	123681269	G	A	exonic	ANXA13	.	nonsynonymous SNV	ANXA13:NM_004306:exon11:c.C922T:p.R308W,ANXA13:NM_001003954:exon12:c.C1045T:p.R349W	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.139	0.0223539626799	0.0008	0.00159744	0.0010	9.61e-05	0.0003	0	0.0005	0.0007	0	0.0038	0.0008797	136	154602	rs143112749	0.0009	0.0009	0.0008	0.0009	0.0035	0.0008	0.0008	0.0032	0.0031	8.965e-05	0.0004	3.828e-05	0	0.0002	0.0003	0.0008	0.0008	0.0035	0.0005	0.0005	0.0005	0.0005	0.0054	0.0004	0.0004	0.0038	0.0032	0.0002	0	0.0005	0	0	9.413e-05	0	0.0005	0.0005	0.0054	0.0	0.91255	D	0.001	0.83351	D	0.965	0.57405	D	0.505	0.52030	P	0.066012	0.21840	N	0.542263	0.927902	0.37494	D	3.645	0.94141	H	3.79	0.03809	T	-5.8	0.89211	D	0.257	0.29081	-1.0814	0.07079	T	0.038	0.16246	T	10	0.010331154	0.00230	T	0.022354	0.45241	T	0.139	0.37390	.	.	0.555317463333	0.55189	0.6313734103303085	0.63071	0.471316010277	0.46400	0.203710734844	0.00572	T	0.190673	0.54529	T	-0.426016	0.01567	T	-0.385	0.35136	T	0.209661587495859	0.20936	T	0.948305	0.82682	D	0.75227386	0.81000	0.7303254	0.84066	0.75227386	0.81002	0.7303254	0.84067	-8.91	0.67420	D	.	.	0.199	0.65176	B	.;.	.;.	4.831090	0.78788	27.0	0.99899611652244202	0.97199	0.59012	0.30798	D	AEFDGBCIJ	0.468113	0.51505	N	0.423690660058944	0.62727	4.493526	0.34876096502987	0.58431	4.013738	0.999998855584805	0.74766	0.486886	0.10167	0	0.59043	0.45803	0	0.547309	0.15389	0	0.478617	0.07155	0	.	.	5.71	3.7	0.41607	2.498000	0.45023	4.784000	0.44855	0.676000	0.76740	0.995000	0.38783	1.000000	0.68203	0.977000	0.56843	0.0:0.0:0.518:0.482	10.747	0.45388	958	0.09170	.;Annexin repeat, conserved site	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	1375.33	44	chr8	123681269	.	G	A	1375.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.329;DP=1081;ExcessHet=0;FS=2.277;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11;ReadPosRankSum=-1.284;SOR=0.5	GT:AD:DP:GQ:PL	0/1:63,62:125:99:1389,0,1482	18	0	1	0
chr8	132871398	132871398	A	G	exonic	TG	.	nonsynonymous SNV	TG:NM_003235:exon4:c.A325G:p.I109V	Thyroid dyshormonogenesis 3, Autosomal recessive	0	1514	8	0	0	8	0.00263505	.	.	.	700399	not_provided|Iodotyrosyl_coupling_defect|not_specified	MedGen:C3661900|MONDO:MONDO:0010135,MedGen:C0342194,OMIM:274700,Orphanet:95716|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.096	0.0154391425241	0.0045	0.000998403	0.0043	0.0006	0.0010	0	0.0029	0.0059	0.0011	0.0054	0.004282	662	154602	rs35301433	0.0049	0.0049	0.0048	0.0051	0.0059	0.0049	0.0048	0.0055	0.0054	0.0008	0.0009	0.0034	0	0.0031	0.0009	0.0055	0.0042	0.0059	0.0034	0.0034	0.0034	0.0033	0.0061	0.0031	0.0030	0.0056	0.0054	0.0009	0	0.0010	0.0012	0	0.0023	0	0.0061	0.0014	0.0023	0.005	0.63226	D	0.165	0.30926	T	0.304	0.32663	B	0.071	0.27960	B	0.978971	0.08107	N	0.988808	1	0.08975	N	1.23	0.30720	L	0.01	0.62459	T	-0.39	0.13611	N	0.043	0.01577	-0.9125	0.46543	T	0.092	0.35092	T	10	0.012245327	0.00264	T	0.015439	0.36172	T	0.096	0.27654	.	.	0.377097596864	0.37317	0.24495914726229218	0.24409	0.0612690219813	0.06824	0.298176556826	0.10130	T	0.021997	0.17036	T	-0.600014	0.00146	T	-0.628116	0.10558	T	0.0303269665478754	0.02040	T	0.464054	0.13535	T	0.23782098	0.46651	0.11801819	0.28489	0.197356	0.41598	0.07036059	0.14939	-2.8	0.08184	T	.	.	0.095	0.14751	B	.	.	-1.426739	0.00341	0.006	0.77606965583440191	0.11946	0.01803	0.05625	N	AEFGBI	0.055231	0.10111	N	-1.3193831207508	0.03453	0.1542971	-1.48616576317685	0.02457	0.1130557	0.999999999937121	0.74766	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.58	-11.2	0.00099	-4.465000	0.00264	-6.343000	0.01425	-0.181000	0.10308	0.000000	0.06391	0.000000	0.08366	0.962000	0.52141	0.4893:0.4247:0.086:0.0	11.256	0.48288	882	0.29131	Thyroglobulin type-1|Thyroglobulin type-1|Thyroglobulin type-1	.	.	.	.	rs35301433	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.011364	0.02632	1571.33	34	chr8	132871398	.	A	G	1571.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.981;DP=781;ExcessHet=0;FS=3.715;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.88;ReadPosRankSum=-0.149;SOR=0.985	GT:AD:DP:GQ:PL	0/1:87,72:159:99:1585,0,2134	18	0	1	0
chr8	134602551	134602551	C	T	exonic	ZFAT	.	nonsynonymous SNV	ZFAT:NM_001174157:exon5:c.G982A:p.E328K,ZFAT:NM_001167583:exon6:c.G1132A:p.E378K,ZFAT:NM_001174158:exon6:c.G1132A:p.E378K,ZFAT:NM_020863:exon6:c.G1168A:p.E390K,ZFAT:NM_001029939:exon7:c.G1132A:p.E378K,ZFAT:NM_001289394:exon7:c.G1132A:p.E378K	.	424	1094	4	0	0	4	0.00182482	.	.	.	4102693	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.033	0.00520501955617	7.9e-05	0.000199681	7.462e-05	0	0.0002	0	0	9.008e-05	0	6.057e-05	8.41e-05	13	154602	rs374187776	6.294e-05	6.293e-05	6.671e-05	5.913e-05	0.0014	5.228e-05	4.846e-05	0.0007	0.0005	8.961e-05	8.944e-05	0	5.038e-05	1.879e-05	0.0014	5.306e-05	0.0001	6.956e-05	0.0001	0.0001	0.0001	0.0001	0.0002	8.162e-05	6.719e-05	0.0001	7.895e-05	9.624e-05	0	6.532e-05	0	0	0	0	0.0002	0.0005	0.0002	0.268	0.16144	T	0.403	0.19721	T	0.095	0.25437	B	0.018	0.18489	B	0.005710	0.32572	N	0.324438	0.999888	0.50402	D	0.69	0.16971	N	3.02	0.09635	T	-0.4	0.19509	N	0.233	0.26233	-1.0410	0.17011	T	0.015	0.06138	T	10	0.040314347	0.02589	T	0.005205	0.13248	T	0.033	0.08068	.	.	0.180583059064	0.17676	0.45501453353664156	0.45419	0.515292743488	0.49441	0.431982547045	0.29479	T	0.009752	0.29389	T	-0.502757	0.00552	T	-0.586501	0.13971	T	0.0388097614049911	0.03477	T	0.908709	0.67605	D	0.15454881	0.34975	0.092977345	0.21938	0.15454881	0.34974	0.092977345	0.21937	-8.864	0.68893	D	.	.	0.089	0.20547	B	.;.;.;.;.;.	.;.;.;.;.;.	2.985840	0.39842	21.0	0.9956244007288555	0.71892	0.27011	0.23157	N	AEFDGBCIJ	0.081117	0.16410	N	-0.358632804269765	0.26957	1.475235	-0.129770788925047	0.34195	1.964354	0.999999922736113	0.74766	0.638212	0.43195	0	0.623108	0.53289	0	0.653264	0.51672	0	0.635551	0.53088	0	.	.	5.74	4.8	0.61157	3.678000	0.54361	4.869000	0.45548	0.599000	0.40250	0.991000	0.37257	0.998000	0.33993	0.977000	0.56843	0.0:0.9098:0.0:0.0902	12.287	0.54116	982	0.03397	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004532	0.000000	0.008152	0.002924	0.000000	0.000000	0.006098	0.000000	0.02632	2522.33	103	chr8	134602551	.	C	T	2522.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.02;DP=2002;ExcessHet=0;FS=2.606;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.17;ReadPosRankSum=0.585;SOR=0.759	GT:AD:DP:GQ:PL	0/1:88,90:178:99:2536,0,2184	18	0	1	0
chr8	141476002	141476002	C	T	exonic	MROH5	.	unknown	UNKNOWN	.	414	1083	23	2	0	27	0.0123119	.	.	.	2828572	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0048	0.00219649	0.0067	0.0010	0.0025	0	0.0205	0.0085	0.0130	0.0045	0.0047412	733	154602	rs191505452	0.0045	0.0045	0.0045	0.0045	0.0118	0.0044	0.0044	0.0094	0.0086	0.0003	0.0022	0.0190	2.521e-05	0.0117	0.0118	0.0042	0.0049	0.0035	0.0054	0.0054	0.0049	0.0059	0.0074	0.0051	0.0049	0.0069	0.0067	0.0005	0.0197	0.0040	0.0176	0	0.0110	0.0204	0.0074	0.0071	0.0031	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.145	0.14622	.	.	.	.	.	.	.	0.0040850043	0.00080	T	.	.	.	.	.	.	.	0.0806252709748	0.07271	.	.	.	.	0.295385926962	0.09714	T	.	.	.	-0.599191	0.00147	T	-0.619193	0.11248	T	.	.	.	0.29517	0.05454	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.11317	B	.	.	-0.360341	0.02365	0.258	0.39766451494619692	0.02764	0.00174	0.01026	N	AEFDGBI	0.016045	0.00338	N	.	.	.	.	.	.	0.948378413831652	0.27797	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	2.47	-4.94	0.02830	-0.899000	0.04209	-3.806000	0.02525	-1.181000	0.01386	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1762:0.3417:0.2077:0.2745	0.817	0.01034	894	0.26265	.	.	.	.	.	rs191505452	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	0.011651	0.005155	0.009511	0.020468	0.000000	0.008621	0.009317	0.015267	0.02632	1236.33	34	chr8	141476002	.	C	T	1236.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.28;DP=766;ExcessHet=0;FS=1.416;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.44;ReadPosRankSum=0.953;SOR=0.555	GT:AD:DP:GQ:PL	0/1:79,52:131:99:1250,0,1864	18	0	1	0
chr8	143804681	143804681	T	C	exonic	SCRIB	.	nonsynonymous SNV	SCRIB:NM_015356:exon21:c.A2896G:p.T966A,SCRIB:NM_182706:exon21:c.A2896G:p.T966A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.0668212289515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.113e-07	1.368e-06	1.4e-06	0	9.256e-07	0	0	.	.	0	0	0	0	0	0	9.256e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.768	0.03620	T	0.792	0.06490	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.46	0.36691	T	-0.9	0.24898	N	0.133	0.14905	-0.9943	0.31485	T	0.024	0.10013	T	9	0.04450193	0.03414	T	0.066821	0.69987	D	0.041	0.10877	0.206	0.12216	0.435492324924	0.43171	0.23464297615410426	0.23379	.	.	0.485579371452	0.36827	T	0.074328	0.34913	T	-0.279638	0.10706	T	-0.639457	0.09708	T	0.0128726213274694	0.00220	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.01290	B	.;.;.	.;.;.	-0.877474	0.00963	0.038	0.30042716140427006	0.01623	0.05463	0.11343	N	AEFDBCI	0.031065	0.03248	N	-1.68676311864494	0.00890	0.03850812	-1.74294535341214	0.00960	0.04299794	0.998897393274935	0.37915	0.706548	0.73137	0	0.643519	0.57511	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	3.05	-6.1	0.01956	-0.008000	0.12724	.	.	0.568000	0.28809	0.183000	0.24101	0.000000	0.08366	0.003000	0.05239	0.0:0.4631:0.128:0.4089	7.476	0.26547	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	.	.	.	.	.	.	.	.	0.02632	756.33	34	chr8	143804681	.	T	C	756.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.072;DP=757;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.64;ReadPosRankSum=-1.582;SOR=0.76	GT:AD:DP:GQ:PL	0/1:33,32:65:99:770,0,952	18	0	1	0
chr8	143858247	143858247	C	T	exonic	EPPK1	.	nonsynonymous SNV	EPPK1:NM_031308:exon2:c.G15007A:p.G5003S	.	6	1506	10	0	0	10	0.00330907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs781989415	0.0002	0.0005	0.0002	0.0003	0.0022	0.0002	0.0002	0.0020	0.0019	0.0001	0	0	2.526e-05	0	0.0006	0.0001	0.0003	0.0022	4.001e-05	7.227e-05	2.605e-05	5.467e-05	0.0002	1.736e-05	1.143e-05	1.179e-05	6.27e-06	2.468e-05	0	0	0	0	9.634e-05	0	4.441e-05	0	0.0002	.	.	.	0.041	0.50514	D	.	.	.	.	.	.	.	.	.	.	0.997574	0.44002	D	.	.	.	.	.	.	.	.	.	0.202	0.22357	0.100	0.84169	D	0.531	0.82583	D	9	0.03469062	0.01687	T	0.035166	0.56165	D	.	.	.	.	0.599093849917	0.59590	0.5625232093572086	0.56179	.	.	0.458816915751	0.33148	T	.	.	.	-0.277927	0.10889	T	-0.178783	0.56635	T	0.333741370655056	0.26375	T	0.947205	0.79675	D	0.121298105	0.28527	0.16371429	0.37963	0.121298105	0.28527	0.16371429	0.37962	-11.577	0.82729	D	.	.	0.748	0.74947	P	.;.	.;.	3.585182	0.50567	23.0	0.99857698313710819	0.93639	0.97753	0.76883	D	AEFGBCI	.	.	.	0.76914793535542	0.84147	8.206939	0.708408127109433	0.83016	7.912752	0.999999999999674	0.74766	0.695654	0.57023	0	0.588066	0.40923	0	0.723109	0.80598	0	0.604944	0.38103	0	.	.	5.06	5.06	0.67838	4.662000	0.61220	.	.	0.443000	0.21123	0.412000	0.26266	0.082000	0.22400	0.977000	0.56843	0.0:1.0:0.0:0.0	15.974	0.79840	964	0.07719	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05263	438.83	40	chr8	143858247	.	C	T	438.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.063;DP=1169;ExcessHet=0.119;FS=16.708;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=32.52;MQRankSum=-1.199;QD=1.38;ReadPosRankSum=2.02;SOR=0.186	GT:AD:DP:GQ:PL	0/1:149,32:181:99:330,0,3743	17	0	2	0
chr9	117371	117371	C	0	exonic	FOXD4	.	.	.	.	494	340	430	130	128	818	0.50365	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1842	5413.13	34	chr9	117371	.	C	*	5413.13	.	AC=7;AF=0.184;AN=38;BaseQRankSum=1.27;DP=562;ExcessHet=0.5308;FS=2.672;InbreedingCoeff=0.1364;MLEAC=7;MLEAF=0.184;MQ=45.91;MQRankSum=-4.389;QD=13.04;ReadPosRankSum=0.019;SOR=0.931	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,17:17:51:1|1:117366_C_CCG:765,51,0:117366	13	1	5	0
chr9	2039776	2039776	-	CAGCAG	exonic	SMARCA2	.	nonframeshift insertion	SMARCA2:NM_001289396:exon4:c.666_667insCAGCAG:p.Q238_P239insQQ,SMARCA2:NM_001289397:exon4:c.666_667insCAGCAG:p.Q238_P239insQQ,SMARCA2:NM_003070:exon4:c.666_667insCAGCAG:p.Q238_P239insQQ,SMARCA2:NM_139045:exon4:c.666_667insCAGCAG:p.Q238_P239insQQ	Nicolaides-Baraitser syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	428986	Inborn_genetic_diseases|not_provided|not_specified	MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.59e-05	4	154602	rs745316697	0.0019	0.0020	0.0020	0.0019	0.0310	0.0019	0.0019	0.0295	0.0288	0.0310	0.0026	0.0198	0.0011	0.0002	0.0029	0.0007	0.0042	0.0012	0.0099	0.0099	0.0103	0.0094	0.0304	0.0095	0.0093	0.0290	0.0284	0.0304	0.0011	0.0043	0.0234	0.0002	9.647e-05	0.0137	0.0009	0.0120	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	7911.62	33	chr9	2039776	.	A	ACAGCAG	7911.62	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.148;DP=982;ExcessHet=4.0268;FS=2.482;InbreedingCoeff=-0.2667;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.78;ReadPosRankSum=0.986;SOR=0.515	GT:AD:DP:GQ:PL	0/1:24,27:51:99:1061,0,823	18	0	1	0
chr9	5123096	5123096	T	C	exonic	JAK2	.	nonsynonymous SNV	JAK2:NM_001322204:exon20:c.T2705C:p.I902T,JAK2:NM_001322195:exon22:c.T3152C:p.I1051T,JAK2:NM_001322196:exon22:c.T3152C:p.I1051T,JAK2:NM_001322194:exon23:c.T3152C:p.I1051T,JAK2:NM_001322198:exon23:c.T1937C:p.I646T,JAK2:NM_001322199:exon23:c.T1937C:p.I646T,JAK2:NM_004972:exon23:c.T3152C:p.I1051T	Erythrocytosis, somatic;Leukemia, acute myeloid, somatic;Myelofibrosis, somatic;Polycythemia vera, somatic;Thrombocythemia 3, Autosomal dominant, Somatic mutation	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.295	0.056332628929	7.7e-05	.	6.613e-05	0.0003	0	0	0	1.502e-05	0	0.0002	5.17e-05	8	154602	rs375671491	7.425e-05	7.525e-05	6.155e-05	8.708e-05	0.0004	6.279e-05	5.836e-05	0.0003	0.0003	0.0001	0	0	2.523e-05	0	0	5.868e-05	4.991e-05	0.0004	9.21e-05	9.194e-05	6.433e-05	0.0001	0.0008	5.534e-05	4.37e-05	0.0003	0.0002	0.0002	0	0	0	0	0	0	2.945e-05	0	0.0008	0.042	0.41637	D	0.124	0.35455	T	0.001	0.07471	B	0.009	0.14300	B	0.000000	0.84330	D	0.044997	0.991735	0.45197	D	0.855	0.21307	L	-2.45	0.88847	D	0.96	0.01488	N	0.524	0.55366	-0.3832	0.72552	T	0.434	0.77472	T	10	0.15145755	0.28628	T	0.056333	0.66566	D	0.295	0.61502	.	.	0.736380877953	0.73402	0.48369765660785324	0.48289	0.237010670615	0.26238	0.727767825127	0.71180	T	0.45442	0.79398	T	-0.190171	0.22232	T	-0.203527	0.54312	T	0.0761400833887401	0.09487	T	0.808619	0.45852	T	0.40771002	0.61263	0.1574455	0.36815	0.40771002	0.61263	0.1574455	0.36814	-5.47	0.41587	T	0.20563258869468304	0.27439	0.129	0.27672	B	.	.	3.430424	0.47670	22.5	0.98073907884453959	0.38046	0.92127	0.55004	D	AEFBI	0.430811	0.49336	N	-0.115380005936799	0.36722	2.126512	0.0949412734907236	0.44294	2.713936	0.998760746273665	0.37623	0.706298	0.61202	0	0.724815	0.89359	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.25	5.25	0.73169	5.136000	0.64623	.	.	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0786:0.1559:0.7655	6.617	0.21975	670	0.60992	Serine-threonine/tyrosine-protein kinase, catalytic domain|Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain|Janus kinase 2, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	1247.33	33	chr9	5123096	.	T	C	1247.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.479;DP=721;ExcessHet=0;FS=0.773;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.99;ReadPosRankSum=0.048;SOR=0.831	GT:AD:DP:GQ:PL	0/1:45,51:96:99:1261,0,1044	18	0	1	0
chr9	15453121	15453121	A	G	exonic	SNAPC3	.	nonsynonymous SNV	SNAPC3:NM_001369647:exon6:c.A818G:p.N273S,SNAPC3:NM_001369649:exon6:c.A746G:p.N249S,SNAPC3:NM_001039697:exon7:c.A896G:p.N299S,SNAPC3:NM_001369648:exon7:c.A896G:p.N299S,SNAPC3:NM_001369651:exon7:c.A896G:p.N299S	.	431	1085	6	0	0	6	0.00275735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	0.011080866014	.	.	2.471e-05	0	0	0	0.0002	1.499e-05	0	6.056e-05	1.94e-05	3	154602	rs745726291	2.396e-05	2.394e-05	2.18e-05	2.614e-05	0.0003	1.74e-05	1.54e-05	7.999e-05	6.237e-05	2.992e-05	0	0	0	1.872e-05	0.0003	1.26e-05	8.284e-05	0.0001	2.627e-05	2.627e-05	0	5.377e-05	0.0002	8.14e-06	5.14e-06	1.17e-05	6.25e-06	0	0	0	0	0	0	0	4.409e-05	0	0.0002	0.058	0.37750	T	0.38	0.15988	T	0.007	0.14184	B	0.028	0.21332	B	0.010565	0.29871	N	0.384868	0.983661	0.40043	D	1.63	0.41750	L	1.06	0.39781	T	-2.23	0.53898	N	0.248	0.30574	-1.0707	0.09260	T	0.072	0.29227	T	10	0.15668479	0.29504	T	0.011081	0.28332	T	0.069	0.20116	0.386	0.40624	0.399304321381	0.39546	0.49997963264002876	0.49918	0.0240240209715	0.02436	0.357350051403	0.18999	T	0.088285	0.38126	T	-0.417596	0.01773	T	-0.656096	0.08533	T	0.047843161970377	0.05115	T	0.772323	0.40326	T	0.1394886	0.32219	0.16074806	0.37425	0.1394886	0.32218	0.16074806	0.37424	-5.966	0.45994	T	.	.	0.065	0.01986	B	.;.;.	.;.;.	1.562297	0.20012	14.55	0.97619470573357314	0.34954	0.91916	0.54541	D	AEFGBI	0.324720	0.42652	N	-0.443615221396591	0.23957	1.290199	-0.293738239680993	0.28305	1.577208	0.969200475230013	0.29110	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.06	2.65	0.30588	2.090000	0.41306	3.362000	0.37867	-0.050000	0.17177	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.8517:0.0:0.1483:0.0	9.338	0.37225	555	0.71762	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1764.33	34	chr9	15453121	.	A	G	1764.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.076;DP=754;ExcessHet=0;FS=0.623;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.6;ReadPosRankSum=2.15;SOR=0.628	GT:AD:DP:GQ:PL	0/1:63,77:140:99:1778,0,1405	18	0	1	0
chr9	15874587	15874587	T	G	exonic	CCDC171	.	nonsynonymous SNV	CCDC171:NM_001355547:exon23:c.T3548G:p.L1183R,CCDC171:NM_173550:exon24:c.T3524G:p.L1175R,CCDC171:NM_001348002:exon25:c.T3269G:p.L1090R	.	429	1031	59	3	0	65	0.0305595	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	.	0.0051	0.00678914	0.0095	0.0007	0.0044	0.0002	0.0047	0.0090	0.0166	0.0271	0.0091784	1419	154602	rs149814894	0.0092	0.0093	0.0086	0.0099	0.0278	0.0091	0.0091	0.0269	0.0265	0.0012	0.0041	0.0207	2.55e-05	0.0037	0.0173	0.0085	0.0093	0.0278	0.0067	0.0067	0.0062	0.0072	0.0276	0.0064	0.0062	0.0238	0.0224	0.0014	0	0.0044	0.0213	0.0004	0.0046	0.0272	0.0090	0.0081	0.0276	0.089	0.32141	T	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000020	0.62929	D	0.000000	0.994351	0.42251	D	2.095	0.58118	M	2.11	0.19860	T	-1.04	0.27259	N	0.91	0.91162	-0.9070	0.47215	T	0.142	0.46220	T	10	0.008025855	0.00182	T	.	.	.	0.224	0.52174	.	.	0.154104182512	0.14974	0.45066847768622825	0.44984	.	.	0.552870512009	0.46263	T	0.050963	0.28745	T	-0.161557	0.26520	T	0.0147549	0.71290	D	0.0191352506970154	0.00621	T	0.824018	0.48536	T	0.4105033	0.61452	0.33814338	0.59596	0.4105033	0.61453	0.33814338	0.59595	-5.374	0.40669	T	.	.	0.676	0.71974	P	.	.	4.848866	0.79229	27.1	0.99786180405727065	0.87219	0.90879	0.52434	D	AEFBCI	0.686121	0.64790	D	0.279908937397231	0.55131	3.677424	0.400830299741183	0.61618	4.364282	0.998148247876127	0.36487	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.638833	0.57524	0	.	.	5.74	5.74	0.90070	5.177000	0.64870	7.942000	0.75525	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.0:1.0	16.105	0.81025	573	0.70213	.	.	.	.	.	.	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	0.018127	0.010101	0.017663	0.032164	0.000000	0.017241	0.006098	0.015152	0.05263	1963.83	33	chr9	15874587	.	T	G	1963.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.515;DP=843;ExcessHet=0.119;FS=0.477;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=7.95;ReadPosRankSum=-0.671;SOR=0.723	GT:AD:DP:GQ:PL	0/1:88,53:141:99:1107,0,2201	17	0	2	0
chr9	19123595	19123596	TC	-	exonic	PLIN2	.	frameshift deletion	PLIN2:NM_001122:exon4:c.278_279del:p.R93Tfs*68	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	2.519e-05	0	0	.	.	0	0	0	2.519e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	3546.29	34	chr9	19123594	.	GTC	G	3546.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.209;DP=817;ExcessHet=0;FS=0.579;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=19.17;ReadPosRankSum=-0.726;SOR=0.628	GT:AD:DP:GQ:PL	0/1:90,95:185:99:3560,0,3332	18	0	1	0
chr9	20923697	20923697	C	G	exonic	FOCAD	.	nonsynonymous SNV	FOCAD:NM_001375568:exon24:c.C2785G:p.L929V,FOCAD:NM_001375570:exon24:c.C2785G:p.L929V,FOCAD:NM_001375567:exon25:c.C2890G:p.L964V,FOCAD:NM_017794:exon27:c.C2890G:p.L964V	.	432	1073	12	1	4	18	0.00648148	.	.	.	2988248	FOCAD-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.426	.	0.0005	0.0113818	0.0060	0.0003	0.0010	0.0305	0	0.0001	0.0102	0.0266	0.0053816	832	154602	rs117748510	0.0027	0.0027	0.0019	0.0035	0.0273	0.0026	0.0026	0.0264	0.0260	0.0005	0.0003	0	0.0263	1.872e-05	0.0028	0.0002	0.0043	0.0273	0.0021	0.0021	0.0017	0.0025	0.0305	0.0019	0.0019	0.0264	0.0249	0.0005	0	6.534e-05	0	0.0260	0	0.0034	0.0002	0.0028	0.0305	0.047	0.40319	D	0.0	0.92824	D	.	.	.	.	.	.	0.000024	0.55875	D	0.072248	0.999709	0.48408	D	.	.	.	-0.93	0.75215	T	-2.01	0.46337	N	0.83	0.85238	-0.7182	0.59551	T	0.150	0.47752	T	10	0.009301335	0.00210	T	.	.	.	0.426	0.73372	.	.	0.649314703251	0.64640	0.4799576502131357	0.47915	0.0239078099333	0.02427	0.555704414845	0.46660	T	0.055797	0.30106	T	-0.187113	0.22683	T	-0.017867	0.69169	D	0.0335711694566184	0.02566	T	0.827017	0.49049	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.129	0.27493	B	.;.;.	.;.;.	2.744783	0.35961	20.1	0.99689563059916253	0.79842	0.77620	0.38185	D	AEFDGBI	0.347276	0.44180	N	0.232178871657312	0.52763	3.448597	0.235089474670716	0.51805	3.359969	0.756002068294349	0.23435	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.64	3.37	0.37692	1.320000	0.33272	0.323000	0.17205	0.599000	0.40250	0.998000	0.41325	0.995000	0.32472	0.976000	0.56436	0.0:0.1844:0.0:0.8156	7.467	0.26497	464	0.78488	.;.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.02632	725.33	36	chr9	20923697	.	C	G	725.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.087;DP=767;ExcessHet=0;FS=3.172;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.67;ReadPosRankSum=0.454;SOR=0.887	GT:AD:DP:GQ:PL	0/1:45,30:75:99:739,0,1264	18	0	1	0
chr9	21166582	21166582	C	T	exonic	IFNA21	.	nonsynonymous SNV	IFNA21:NM_002175:exon1:c.G31A:p.V11M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.0045665587845	.	0.000599042	8.364e-05	0.0003	0	0.0003	0	3.025e-05	0	0.0001	3.88e-05	6	154602	rs558841113	4.927e-05	4.925e-05	5.31e-05	4.539e-05	0.0001	3.993e-05	3.67e-05	5.85e-05	3.759e-05	0.0001	6.712e-05	0	7.557e-05	0	0	4.587e-05	3.313e-05	9.279e-05	0.0001	0.0001	0.0001	9.405e-05	0.0010	6.51e-05	5.322e-05	0.0004	0.0002	0.0002	0	6.542e-05	0	0.0010	0	0	1.471e-05	0	0.0004	0.039	0.42487	D	0.057	0.46406	T	0.007	0.14184	B	0.004	0.10090	B	0.797648	0.09348	N	0.889234	1	0.08975	N	0.145	0.08828	N	4.07	0.03033	T	0.81	0.01839	N	0.103	0.08646	-0.9295	0.44212	T	0.007	0.02558	T	10	0.06308895	0.08166	T	0.004567	0.11283	T	0.019	0.03383	0.583	0.70990	0.0551355673512	0.04727	0.29423068294994176	0.29336	0.0155887247478	0.01485	0.223822921515	0.01542	T	0.017584	0.14320	T	-0.514371	0.00474	T	-0.676311	0.07211	T	0.00892320041520784	0.00111	T	0.70513	0.31558	T	0.037491065	0.04815	0.048094884	0.07070	0.037491065	0.04814	0.048094884	0.07069	-4.999	0.36829	T	.	.	0.114	0.22500	B	.	.	0.515556	0.08842	5.623	0.78582229405382076	0.12363	0.00742	0.03097	N	AEFI	0.016121	0.00344	N	-1.3818431316409	0.02808	0.1245412	-1.4223893512667	0.03029	0.1405265	3.59817588367303E-4	0.06668	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	4.02	-1.12	0.09306	-0.525000	0.06302	.	.	-3.866000	0.00055	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3988:0.1726:0.4286:0.0	4.260	0.10184	851	0.35303	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2936.33	34	chr9	21166582	.	C	T	2936.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.78;DP=895;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=51.88;MQRankSum=-0.405;QD=11.75;ReadPosRankSum=0.344;SOR=0.707	GT:AD:DP:GQ:PL	0/1:134,116:250:99:2950,0,3322	18	0	1	0
chr9	26917138	26917138	G	A	exonic	PLAA	.	nonsynonymous SNV	PLAA:NM_001031689:exon10:c.C1445T:p.S482L	.	432	1082	8	0	0	8	0.00368324	.	.	.	1452565	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.218	0.0243179632652	0.0005	0.000599042	0.0008	0.0006	0.0023	0	0.0002	0.0010	0	6.059e-05	0.0007503	116	154602	rs140970730	0.0008	0.0008	0.0008	0.0008	0.0043	0.0007	0.0007	0.0030	0.0026	0.0002	0.0015	3.829e-05	0	0.0004	0.0043	0.0009	0.0009	0.0002	0.0007	0.0006	0.0006	0.0007	0.0015	0.0005	0.0005	0.0010	0.0009	9.625e-05	0	0.0015	0	0	0.0004	0.0034	0.0009	0.0019	0	0.017	0.51248	D	0.232	0.27235	T	0.419	0.41872	B	0.035	0.23986	B	0.000107	0.50451	D	0.177387	1	0.81001	D	2.64	0.77224	M	0.4	0.57261	T	-2.66	0.56945	D	0.722	0.72388	-0.9401	0.42600	T	0.123	0.42547	T	10	0.064181	0.08473	T	0.024318	0.47307	T	0.218	0.51265	.	.	0.736095994272	0.73373	0.3869127882866225	0.38606	0.254493974337	0.28019	0.520802617073	0.41739	T	0.109529	0.42347	T	-0.0588391	0.43089	T	0.102172	0.77053	D	0.0430049764906576	0.04238	T	0.80002	0.44558	T	0.15282911	0.34673	0.16971284	0.39027	0.15282911	0.34673	0.16971284	0.39026	-6.474	0.50086	T	0.31082483336992506	0.40868	0.078	0.09675	B	.;.	.;.	3.447179	0.47979	22.5	0.99864419586410313	0.94276	0.98647	0.85104	D	AEFBI	0.627965	0.61023	D	0.310516362262114	0.56689	3.833913	0.45506537187777	0.65041	4.774036	0.999999727407085	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.93	5.93	0.95888	6.549000	0.73800	11.911000	0.99583	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.950000	0.49671	0.0:0.0:1.0:0.0	18.530	0.90940	487	0.76954	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.005051	0.001359	0.000000	0.000000	0.000000	0.009146	0.000000	0.02632	859.33	35	chr9	26917138	.	G	A	859.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.434;DP=681;ExcessHet=0;FS=0.935;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.83;ReadPosRankSum=-0.841;SOR=0.843	GT:AD:DP:GQ:PL	0/1:32,35:67:99:873,0,748	18	0	1	0
chr9	27949768	27949768	G	C	exonic	LINGO2	.	nonsynonymous SNV	LINGO2:NM_001354574:exon6:c.C904G:p.L302V,LINGO2:NM_001258282:exon7:c.C904G:p.L302V,LINGO2:NM_001354575:exon7:c.C904G:p.L302V,LINGO2:NM_152570:exon7:c.C904G:p.L302V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.705	0.0997795106584	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.112e-06	7.871e-05	4.092e-06	4.132e-06	5.408e-06	1.48e-06	9.7e-07	1.95e-06	1.28e-06	0	0	0	0	0	0	5.408e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.03	0.54159	D	0.986	0.61523	D	0.85	0.60657	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.95	0.84923	M	-1.23	0.78860	T	-2.21	0.49684	N	0.907	0.90818	0.386	0.88881	D	0.665	0.88385	D	9	0.85711384	0.84913	D	0.09978	0.77164	D	0.705	0.89422	0.64	0.77687	0.735327200134	0.73296	0.7335851541418053	0.73303	0.652114185442	0.58417	0.761910796165	0.76213	T	0.130	0.45814	T	0.339968	0.85832	D	0.250564	0.85644	D	0.952414214611053	0.63786	D	0.90461	0.66442	D	0.37800357	0.59172	0.37095898	0.62335	0.37800357	0.59172	0.37095898	0.62335	-9.634	0.71690	D	.	.	0.204	0.43558	B	.;.;.	.;.;.	4.562301	0.71907	25.7	0.99580776273553073	0.72980	0.97069	0.72509	D	AEFGBI	0.763309	0.70045	D	0.79974658041287	0.86088	8.775051	0.782098205581997	0.88523	9.613777	0.312744460911409	0.19304	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.95	5.95	0.96415	4.750000	0.61857	11.917000	0.99728	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	20.393	0.98966	606	0.67383	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	101.33	184	chr9	27949768	.	G	C	101.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-5.714;DP=1905;ExcessHet=0;FS=272.777;InbreedingCoeff=-0.0272;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.51;ReadPosRankSum=1.43;SOR=10.283	GT:AD:DP:GQ:PL	0/1:144,56:204:99:115,0,2896	18	0	1	0
chr9	35295783	35295783	C	T	exonic	UNC13B	.	nonsynonymous SNV	UNC13B:NM_001330653:exon8:c.C614T:p.T205I,UNC13B:NM_001371186:exon8:c.C614T:p.T205I,UNC13B:NM_001371189:exon8:c.C614T:p.T205I,UNC13B:NM_006377:exon8:c.C614T:p.T205I	.	435	1045	42	0	0	42	0.0196998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	.	0.0041	0.00499201	0.0065	0.0007	0.0041	0	0.0097	0.0065	0.0110	0.0136	0.0060025	928	154602	rs138440338	0.0057	0.0057	0.0054	0.0061	0.0142	0.0056	0.0056	0.0136	0.0133	0.0007	0.0029	0.0149	2.519e-05	0.0092	0.0118	0.0051	0.0056	0.0142	0.0047	0.0047	0.0043	0.0051	0.0160	0.0044	0.0043	0.0131	0.0121	0.0009	0.0099	0.0044	0.0144	0	0.0105	0.0068	0.0051	0.0071	0.0160	0.009	0.57480	D	0.011	0.64786	D	0.938	0.52538	P	0.399	0.44455	B	0.000231	0.47286	D	0.179734	0.99992	0.51308	D	2.375	0.68372	M	-2.07	0.85943	D	-2.95	0.61580	D	0.599	0.67304	0.241	0.86601	D	0.619	0.86572	D	10	0.0056838393	0.00126	T	.	.	.	0.186	0.46104	.	.	0.789644447498	0.78769	0.4848969622282283	0.48409	0.417416344241	0.42361	0.667133808136	0.62429	T	0.110725	0.81253	T	-0.222214	0.17692	T	-0.0802945	0.64882	T	0.0248213527270803	0.01249	T	0.987835	0.95872	D	0.13981785	0.32284	0.15281735	0.35937	0.13981785	0.32283	0.15281735	0.35936	-5.808	0.44644	T	.	.	0.401	0.63533	A	.;.;.;.	.;.;.;.	3.339012	0.46004	22.2	0.99894041270588596	0.96742	0.95990	0.67036	D	AEFBI	0.675017	0.64054	D	0.587530246142243	0.72397	5.799087	0.612553355911087	0.75850	6.384187	0.999992383774717	0.74766	0.706298	0.61202	0	0.588015	0.36545	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.8	5.8	0.92081	4.089000	0.57410	3.346000	0.37747	0.549000	0.26987	0.999000	0.42656	0.998000	0.33993	0.972000	0.54974	0.0:1.0:0.0:0.0	20.072	0.97725	167	0.93508	.;.;.;.	.	.	.	.	rs138440338	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	0.008560	0.000000	0.005435	0.011696	0.000000	0.008621	0.006098	0.022727	0.02632	1738.33	33	chr9	35295783	.	C	T	1738.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.97;DP=817;ExcessHet=0;FS=1.175;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.5;ReadPosRankSum=0.289;SOR=0.583	GT:AD:DP:GQ:PL	0/1:110,73:183:99:1752,0,2608	18	0	1	0
chr9	36966691	36966691	G	A	exonic	PAX5	.	nonsynonymous SNV	PAX5:NM_001280551:exon5:c.C314T:p.S105L,PAX5:NM_001280553:exon5:c.C509T:p.S170L,PAX5:NM_001280554:exon5:c.C509T:p.S170L,PAX5:NM_001280555:exon5:c.C440T:p.S147L,PAX5:NM_001280556:exon5:c.C314T:p.S105L,PAX5:NM_001280547:exon6:c.C638T:p.S213L,PAX5:NM_001280548:exon6:c.C638T:p.S213L,PAX5:NM_001280549:exon6:c.C638T:p.S213L,PAX5:NM_001280550:exon6:c.C638T:p.S213L,PAX5:NM_001280552:exon6:c.C638T:p.S213L,PAX5:NM_016734:exon6:c.C638T:p.S213L	.	415	1105	2	0	0	2	0.000904159	.	.	.	138740	not_specified|not_provided|Leukemia,_acute_lymphoblastic,_susceptibility_to,_3	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0014241,MedGen:C3809874,OMIM:615545	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.605	0.292988438015	0.0009	.	0.0007	0.0003	0.0003	0	0	0.0010	0.0011	0.0002	0.0006598	102	154602	rs137870876	0.0010	0.0010	0.0011	0.0010	0.0013	0.0010	0.0010	0.0012	0.0012	0.0002	0.0003	0	0	9.362e-05	0.0002	0.0013	0.0008	0.0003	0.0006	0.0006	0.0008	0.0004	0.0011	0.0005	0.0005	0.0009	0.0009	0.0001	0.0033	0.0001	0	0	0	0	0.0011	0.0005	0.0004	0.006	0.78490	D	0.049	0.79402	D	0.458	0.45525	P	0.017	0.37636	B	0.004009	0.34221	N	0.289697	0.999765	0.53665	D	2.215	0.62545	M	-4.26	0.98096	D	-4.13	0.83422	D	0.425	0.48319	1.103	0.99785	D	0.955	0.98531	D	10	0.25095463	0.42428	T	0.292988	0.90627	D	0.605	0.84452	.	.	0.910647563361	0.90974	0.5859175941848557	0.58521	0.907193985159	0.70892	0.731673717499	0.71751	T	0.53234	0.83839	D	0.0277112	0.55417	T	0.216588	0.84002	D	0.0788527879035309	0.09839	T	0.968203	0.88631	D	0.28643358	0.51659	0.25361952	0.51013	0.25854483	0.48904	0.27562985	0.53499	-12.155	0.85967	D	.	.	0.102	0.40473	B	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	5.133881	0.85920	28.7	0.99858115849424778	0.93639	0.89486	0.49981	D	AEFDBHCI	0.692559	0.65218	D	0.44761216933599	0.64068	4.653191	0.505466564131464	0.68358	5.208961	0.999999669254193	0.74766	0.631515	0.41029	0	0.697927	0.68747	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.51	5.51	0.81769	5.661000	0.67694	11.905000	0.99459	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.343000	0.25501	0.0:0.0:1.0:0.0	19.428	0.94743	850	0.35610	.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	563.33	35	chr9	36966691	.	G	A	563.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.066;DP=692;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.23;ReadPosRankSum=-1.012;SOR=0.802	GT:AD:DP:GQ:PL	0/1:36,25:61:99:577,0,918	18	0	1	0
chr9	37126517	37126517	C	T	exonic	ZCCHC7	.	nonsynonymous SNV	ZCCHC7:NM_001289119:exon2:c.C185T:p.S62L,ZCCHC7:NM_001289120:exon2:c.C185T:p.S62L,ZCCHC7:NM_001289121:exon2:c.C185T:p.S62L,ZCCHC7:NM_032226:exon2:c.C185T:p.S62L	.	439	1069	14	0	0	14	0.00650558	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.0347055215802	0.0007	0.000199681	0.0008	9.61e-05	0.0003	0.0001	0	0.0006	0.0011	0.0031	0.0006792	105	154602	rs140974537	0.0006	0.0006	0.0005	0.0008	0.0070	0.0006	0.0006	0.0053	0.0047	0.0001	0.0004	0.0055	2.52e-05	0	0.0070	0.0002	0.0012	0.0042	0.0005	0.0005	0.0004	0.0005	0.0042	0.0004	0.0004	0.0028	0.0023	4.816e-05	0	0.0003	0.0075	0	0	0.0068	0.0002	0.0019	0.0042	0.175	0.22400	T	0.569	0.08839	T	0.154	0.28120	B	0.01	0.14941	B	0.493345	0.12032	N	0.786928	1	0.81001	D	2.045	0.56016	M	1.48	0.45636	T	-0.55	0.32590	N	0.212	0.23632	-1.0757	0.08205	T	0.085	0.33128	T	10	0.0041956007	0.00083	T	0.034706	0.55857	D	0.019	0.03383	.	.	0.0401082797425	0.02173	0.1609163279382368	0.16012	0.199109149286	0.22306	0.340645521879	0.16534	T	0.036471	0.42828	T	-0.528784	0.00390	T	-0.534127	0.18876	T	0.0117328902420202	0.00180	T	0.49655	0.15423	T	0.026255837	0.01660	0.040907335	0.04529	0.026255837	0.01660	0.040907335	0.04529	-3.434	0.15518	T	.	.	0.065	0.01859	B	.;.;.	.;.;.	1.140797	0.15283	11.73	0.92345992591805104	0.21746	0.15828	0.19101	N	AEFGBHCI	0.043504	0.06886	N	-0.722114827232662	0.15401	0.7758299	-0.679745942822439	0.17467	0.9289364	0.999998522959329	0.74766	0.706548	0.73137	0	0.672317	0.65289	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.64	2.74	0.31352	0.005000	0.13029	0.806000	0.21705	-0.214000	0.08267	0.000000	0.06391	0.997000	0.33255	0.013000	0.09966	0.0:0.6037:0.2558:0.1405	7.514	0.26758	487	0.76954	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003024	0.000000	0.002717	0.002924	0.000000	0.000000	0.009202	0.003788	0.02632	1946.33	33	chr9	37126517	.	C	T	1946.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.094;DP=790;ExcessHet=0;FS=9.16;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.8;ReadPosRankSum=1.36;SOR=0.475	GT:AD:DP:GQ:PL	0/1:88,77:165:99:1960,0,2343	18	0	1	0
chr9	37529211	37529211	T	C	exonic	FBXO10	.	nonsynonymous SNV	FBXO10:NM_012166:exon5:c.A1619G:p.N540S	.	.	.	.	.	.	.	.	.	.	.	2214074	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.223	0.0157933105743	.	.	4.761e-05	0	0	0	0	6.79e-05	0	6.992e-05	3.88e-05	6	154602	rs553961005	3.627e-05	3.625e-05	3.268e-05	3.991e-05	0.0002	2.829e-05	2.566e-05	8.017e-05	6.252e-05	5.975e-05	2.24e-05	0	0	0	0.0002	2.969e-05	6.627e-05	0.0001	3.943e-05	3.94e-05	5.14e-05	2.69e-05	7.349e-05	1.716e-05	1.13e-05	2.846e-05	1.858e-05	0	0	0	0	0	0	0	7.349e-05	0.0005	0	0.137	0.25979	T	0.28	0.21678	T	0.114	0.26387	B	0.097	0.30390	B	0.000000	0.84330	D	0.047133	0.999537	0.47451	D	1.5	0.37844	L	-1.17	0.78199	T	-1.85	0.43334	N	0.228	0.25622	-0.7346	0.58730	T	0.256	0.62620	T	10	0.1910131	0.34770	T	0.015793	0.36715	T	0.223	0.52023	.	.	0.729353230476	0.72695	0.6998787708294126	0.69928	0.420232389558	0.42552	0.657099246979	0.60995	T	0.069023	0.33606	T	-0.213988	0.18820	T	-0.363009	0.37703	T	0.204433411359787	0.20658	T	0.883612	0.60617	D	0.084902965	0.19672	0.108170226	0.26052	0.084902965	0.19672	0.108170226	0.26052	-7.699	0.59001	D	.	.	0.120	0.24633	B	.	.	2.887178	0.38222	20.7	0.99364848310843723	0.61155	0.77160	0.37908	D	AEFDGBHCI	0.290805	0.40209	N	-0.105024481395824	0.37172	2.158945	0.0989466470499654	0.44497	2.730251	0.99999999962235	0.74766	0.730579	0.87903	0	0.749866	0.99406	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.5	5.5	0.81386	3.244000	0.51098	4.273000	0.42854	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0827:0.0:0.9173	9.173	0.36256	599	0.68140	Right handed beta helix domain|Carbohydrate-binding/sugar hydrolysis domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	2346.33	35	chr9	37529211	.	T	C	2346.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.929;DP=816;ExcessHet=0;FS=0.56;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.26;ReadPosRankSum=-0.627;SOR=0.64	GT:AD:DP:GQ:PL	0/1:78,99:177:99:2360,0,1958	18	0	1	0
chr9	41964555	41964555	C	T	exonic	CNTNAP3B	.	nonsynonymous SNV	CNTNAP3B:NM_001201380:exon11:c.G1739A:p.G580D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.323e-06	7.525e-06	0	8.774e-06	3.882e-05	1.56e-06	1.02e-06	1.031e-05	4.86e-06	0	0	0	0	0	0	1.862e-06	1.741e-05	3.882e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.79402	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.954	0.96302	.	.	.	.	.	.	.	0.9108832	0.90453	D	.	.	.	.	.	.	.	.	.	0.8404169147633284	0.84001	.	.	.	.	.	0.374562	0.73833	T	.	.	.	.	.	.	.	.	.	0.987701	0.95793	D	.	.	.	.	.	.	.	.	-11.524	0.82456	D	.	.	0.601	0.68925	P	.;.;.	.;.;.	4.105950	0.61261	24.3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.905000	0.75535	7.328000	0.58192	0.298000	0.18894	1.000000	0.71638	1.000000	0.68203	0.936000	0.47498	.	.	.	994	0.00715	EGF-like domain;EGF-like domain|EGF-like domain;EGF-like 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	.	.	.	.	.	.	.	.	0.02632	773.33	113	chr9	41964555	.	C	T	773.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.057;DP=1380;ExcessHet=0;FS=1.532;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=41.46;MQRankSum=1.76;QD=5.99;ReadPosRankSum=1.17;SOR=0.546	GT:AD:DP:GQ:PL	0/1:90,39:129:99:787,0,2486	18	0	1	0
chr9	72916978	72916978	C	T	exonic	ALDH1A1	.	nonsynonymous SNV	ALDH1A1:NM_000689:exon9:c.G977A:p.R326Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.445	0.077678340129	.	0.000199681	2.473e-05	9.614e-05	0	0.0001	0	0	0	6.061e-05	2.59e-05	4	154602	rs575056227	1.574e-05	1.642e-05	1.906e-05	1.238e-05	8.968e-05	1.048e-05	8.75e-06	2.986e-05	1.805e-05	8.968e-05	8.951e-05	0	5.042e-05	0	0	1.079e-05	1.657e-05	1.16e-05	3.943e-05	3.938e-05	1.286e-05	6.721e-05	0.0002	1.716e-05	1.13e-05	7.99e-06	2.99e-06	4.818e-05	0	6.544e-05	0	0.0002	0	0	1.471e-05	0	0.0002	0.023	0.48186	D	0.132	0.34477	T	0.997	0.70673	D	0.672	0.53180	P	0.000001	0.62929	D	0.000000	0.985932	0.81001	D	1.01	0.25309	L	-1.04	0.76561	T	-2.92	0.61129	D	0.242	0.27316	0.059	0.83414	D	0.496	0.80932	T	10	0.362329	0.52831	T	0.077678	0.72828	D	0.445	0.74727	0.514	0.61307	0.750255037199	0.74799	0.6155730211443493	0.61489	0.508620062374	0.49010	0.352858901024	0.18341	T	0.704841	0.91532	D	-0.120199	0.33090	T	-0.228906	0.51878	T	0.772418022155762	0.44584	D	0.906909	0.67118	D	0.53129935	0.68904	0.25706464	0.51416	0.53129935	0.68905	0.25706464	0.51415	-7.686	0.58910	D	.	.	0.184	0.39949	B	.	.	4.045511	0.59928	24.2	0.99947627556214846	0.99923	0.39032	0.26122	N	AEFBCI	0.626388	0.60923	D	0.20647134810738	0.51512	3.33186	0.124960598529543	0.45830	2.839207	0.999999696449347	0.74766	0.732398	0.92422	0	0.588015	0.36545	0	0.618467	0.43123	0	0.727631	0.95156	0	.	.	5.96	4.11	0.47350	1.477000	0.35039	4.827000	0.45167	0.599000	0.40250	0.003000	0.16062	0.652000	0.25970	0.724000	0.34901	0.0:0.8696:0.0:0.1304	13.374	0.60172	390	0.83257	Aldehyde dehydrogenase 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	.	.	.	.	.	.	.	.	0.02632	709.33	34	chr9	72916978	.	C	T	709.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.97;DP=695;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.21;ReadPosRankSum=-1.471;SOR=0.756	GT:AD:DP:GQ:PL	0/1:46,31:77:99:723,0,1037	18	0	1	0
chr9	77293357	77293357	G	A	exonic	VPS13A	.	nonsynonymous SNV	VPS13A:NM_001018037:exon31:c.G3239A:p.G1080E,VPS13A:NM_001018038:exon32:c.G3356A:p.G1119E,VPS13A:NM_015186:exon32:c.G3356A:p.G1119E,VPS13A:NM_033305:exon32:c.G3356A:p.G1119E	Choreoacanthocytosis, Autosomal recessive	28	1478	13	3	0	19	0.00638655	.	.	.	577133	Chorea-acanthocytosis|not_provided|not_specified	MONDO:MONDO:0008695,MedGen:C0393576,OMIM:200150,Orphanet:2388|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.132	0.0497815694852	0.0030	0.000998403	0.0030	0.0004	0.0017	0	0.0002	0.0048	0.0022	0.0013	0.0027943	432	154602	rs144358567	0.0025	0.0026	0.0025	0.0026	0.0096	0.0025	0.0025	0.0076	0.0069	0.0007	0.0024	0.0236	0	0.0001	0.0096	0.0023	0.0040	0.0014	0.0021	0.0021	0.0024	0.0019	0.0023	0.0019	0.0019	0.0020	0.0019	0.0006	0	0.0020	0.0271	0	0.0004	0.0102	0.0023	0.0043	0.0004	0.069	0.36912	T	0.112	0.37037	T	0.661	0.49136	P	0.303	0.52725	B	0.000383	0.44960	N	0.152896	0.999406	0.46935	D	1.95	0.52479	M	0.51	0.58323	T	-3.82	0.71997	D	0.316	0.36043	-0.6762	0.61547	T	0.262	0.63274	T	10	0.006241679	0.00141	T	0.049782	0.63962	D	0.132	0.35948	.	.	0.665613807564	0.66279	0.5153742169824231	0.51460	0.195915520064	0.21946	0.536095499992	0.43895	T	0.753211	0.93254	D	-0.404782	0.02154	T	-0.356954	0.38405	T	0.0505611800669231	0.05598	T	0.872913	0.59164	D	0.2693161	0.50004	0.3164805	0.57628	0.27400836	0.50467	0.3576597	0.61256	-6.695	0.52156	T	.	.	0.214	0.44319	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.620263	0.34050	19.52	0.99239042739290917	0.56469	0.87950	0.47671	D	AEFBI	0.190318	0.31755	N	0.11711501150106	0.47261	2.954332	0.147735375438068	0.47021	2.938804	0.218438562043867	0.18326	0.651	0.46895	0	0.708844	0.79440	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.4	3.56	0.39892	2.462000	0.44706	5.853000	0.50357	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.2155:0.0:0.7845:0.0	10.487	0.43915	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	1	0	0.005035	0.005051	0.010870	0.005848	0.000000	0.008621	0.006098	0.003788	0.02632	287.33	24	chr9	77293357	.	G	A	287.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.206;DP=543;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.98;ReadPosRankSum=-1.511;SOR=0.883	GT:AD:DP:GQ:PL	0/1:22,14:36:99:301,0,535	18	0	1	0
chr9	86018822	86018822	G	C	splicing	NAA35	NM_001321881:exon21:c.2037+1G>C;NM_024635:exon21:c.2037+1G>C;NM_001321882:exon21:c.2037+1G>C	.	.	.	.	.	.	.	.	.	.	1.0000	0.924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.353356	0.86736	D	0.269795	0.86563	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.192679	0.94764	34	0.9954556175864131	0.70773	0.99856	0.99854	D	AEFBI	.	.	.	1.15891206100683	0.99082	20.59108	0.998694741300778	0.98602	18.76144	0.999999999999889	0.74766	0.322412	0.05557	0	0.31918	0.05746	0	0.137589	0.03823	0	0.109871	0.03346	0	0.987846	0.96420	5.5	5.5	0.81386	9.434000	0.96726	11.731000	0.94998	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.0:0.0:1.0:0.0	19.387	0.94553	917	0.20147	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1538	307.01	78	chr9	86018822	.	G	C	307.01	.	AC=4;AF=0.154;AN=26;BaseQRankSum=-2.648;DP=1347;ExcessHet=0.7564;FS=158.178;InbreedingCoeff=-0.2266;MLEAC=5;MLEAF=0.192;MQ=60;MQRankSum=0;QD=0.91;ReadPosRankSum=1.93;SOR=10.607	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:79,31:110:20:.:.:20,0,1211:.	9	0	4	6
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	.	.	.	.	.	.	.	.	0.4737	14305.3	565	chr9	92080918	.	G	C	14305.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-3.988;DP=7105;ExcessHet=38.2876;FS=417.684;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=60;MQRankSum=0;QD=2.21;ReadPosRankSum=1.11;SOR=15.946	GT:AD:DP:GQ:PL	0/1:256,185:459:99:1430,0,4061	1	0	18	0
chr9	94800864	94800864	C	T	exonic	AOPEP	.	nonsynonymous SNV	AOPEP:NM_001193329:exon4:c.C1226T:p.T409M,AOPEP:NM_001193331:exon5:c.C1226T:p.T409M,AOPEP:NM_032823:exon5:c.C1226T:p.T409M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.00287907348136	0.0002	.	8.237e-05	0	0	0.0001	0	4.495e-05	0	0.0004	7.12e-05	11	154602	rs147998277	9.44e-05	9.44e-05	7.895e-05	0.0001	0.0005	8.134e-05	7.65e-05	0.0004	0.0003	0	2.236e-05	0	5.038e-05	0	0.0003	7.644e-05	8.279e-05	0.0005	5.257e-05	5.253e-05	3.854e-05	6.725e-05	0.0002	2.557e-05	1.83e-05	4.764e-05	3.338e-05	0	0	0	0	0	0	0	0.0001	0	0.0002	0.117	0.28271	T	0.296	0.23365	T	.	.	.	.	.	.	0.794633	0.06732	N	1.096300	1	0.08975	N	.	.	.	4.18	0.04746	T	0.43	0.03521	N	0.117	0.12484	-0.9264	0.44659	T	0.007	0.02360	T	10	0.030043691	0.01131	T	0.002879	0.06074	T	0.012	0.01476	.	.	0.254244900254	0.25046	0.20792221172287953	0.20708	0.233025175349	0.25843	.	.	.	.	.	.	-0.588449	0.00171	T	-0.766886	0.02872	T	0.00945679125843133	0.00122	T	0.335866	0.07168	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	0.06114	B	.;.;.;.;.	.;.;.;.;.	0.357671	0.07303	3.915	0.87643746076885776	0.17376	0.13354	0.17808	N	AEFGBHCI	0.051216	0.09027	N	-1.25851256904427	0.04189	0.1885685	-1.24021159550641	0.05278	0.2510745	0.999851612611884	0.44174	0.615465	0.37627	0	0.546412	0.12157	0	0.658983	0.55881	0	0.322989	0.05693	1	.	.	5.17	-0.149	0.12764	0.154000	0.16160	0.237000	0.16261	-0.089000	0.16174	0.000000	0.06391	0.000000	0.08366	0.047000	0.14932	0.431:0.3633:0.0772:0.1285	3.451	0.07065	638	0.64280	.;.;.;.;Peptidase M1, membrane alanine aminopeptidase, 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	.	.	.	.	.	.	.	.	0.02632	1828.33	33	chr9	94800864	.	C	T	1828.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.163;DP=780;ExcessHet=0;FS=3.83;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.95;ReadPosRankSum=-1.495;SOR=1.036	GT:AD:DP:GQ:PL	0/1:78,75:153:99:1842,0,1921	18	0	1	0
chr9	96937970	96937970	T	G	exonic	NUTM2G	.	nonsynonymous SNV	NUTM2G:NM_001045477:exon6:c.T1409G:p.L470R,NUTM2G:NM_001170741:exon6:c.T1409G:p.L470R	.	424	1097	0	1	0	2	0.000910747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	.	0.0023	0.00119808	0.0039	0.0003	0.0019	0	0.0181	0.0048	0.0067	6.056e-05	0.0002523	39	154602	rs200205157	0.0039	0.0039	0.0041	0.0038	0.0041	0.0038	0.0038	0.0040	0.0039	0.0004	0.0027	0.0003	0	0.0164	0.0005	0.0041	0.0034	2.321e-05	0.0036	0.0036	0.0032	0.0040	0.0042	0.0033	0.0032	0.0038	0.0036	0.0006	0	0.0024	0.0006	0	0.0178	0.0034	0.0042	0.0043	0.0002	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000863	0.41335	D	0.000000	1	0.08975	N	3.28	0.90206	M	0.78	0.49358	T	-5.5	0.86372	D	0.624	0.63883	-0.9112	0.46707	T	0.232	0.59867	T	10	0.009914875	0.00222	T	.	.	.	0.155	0.40530	.	.	0.1749357433	0.17121	0.32964116292199647	0.32877	.	.	0.637623310089	0.58226	T	0.201461	0.55934	T	-0.349771	0.04742	T	-0.274932	0.47320	T	0.0923245628663899	0.11490	T	0.929907	0.74113	D	0.7064868	0.78413	0.4916801	0.70595	0.7064868	0.78415	0.4916801	0.70596	-11.653	0.87778	D	.	.	0.519	0.69747	A	.;.	.;.	3.552408	0.49947	22.9	0.99595118076401301	0.73866	0.21538	0.21437	N	AEFDGCI	0.041625	0.06352	N	0.0175747868478578	0.42655	2.574144	-0.250242624968192	0.29763	1.670169	6.03504073944484E-5	0.04171	0.475973	0.10046	0	0.514364	0.08380	0	0.536957	0.11973	0	0.528226	0.09195	0	.	.	1.01	1.01	0.19044	2.331000	0.43552	4.004000	0.41101	-0.377000	0.05411	0.780000	0.29473	0.729000	0.26404	0.004000	0.06068	0.0:0.0:0.0:1.0	4.305	0.10388	803	0.44167	.;Nuclear Testis  protein, 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	0.002237	0.011364	0.000000	0.000000	0.000000	0.000000	0.006579	0.000000	0.02632	1796.33	33	chr9	96937970	.	T	G	1796.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.33;DP=795;ExcessHet=0;FS=0.596;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=48.54;MQRankSum=-2.072;QD=11.66;ReadPosRankSum=0.756;SOR=0.604	GT:AD:DP:GQ:PL	0/1:80,74:154:99:1810,0,1859	18	0	1	0
chr9	99056352	99056352	-	GGGCCACCG	exonic	COL15A1	.	nonframeshift insertion	COL15A1:NM_001855:exon35:c.3285_3286insGGGCCACCG:p.P1107_A1108insGPP	.	419	1102	1	0	0	1	0.000453515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.35e-06	9.891e-05	0	0	0	0	0	0	3.84e-05	1	26028	rs774095602	2.737e-06	2.736e-06	1.362e-06	4.126e-06	0.0001	6.4e-07	4.3e-07	3.983e-05	2.373e-05	0.0001	0	0	0	0	0	0	0	0	1.972e-05	1.97e-05	3.855e-05	0	7.242e-05	5.24e-06	2.45e-06	1.92e-05	1.032e-05	7.242e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	354.29	34	chr9	99056352	.	T	TGGGCCACCG	354.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.153;DP=629;ExcessHet=0;FS=3.619;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.17;ReadPosRankSum=-0.931;SOR=0.543	GT:AD:DP:GQ:PL	0/1:14,11:25:99:368,0,535	18	0	1	0
chr9	100442221	100442221	C	T	exonic	MSANTD3;MSANTD3-TMEFF1	.	nonsynonymous SNV	MSANTD3-TMEFF1:NM_001198812:exon1:c.C283T:p.R95W,MSANTD3:NM_001198805:exon2:c.C283T:p.R95W,MSANTD3:NM_001198806:exon2:c.C283T:p.R95W,MSANTD3:NM_001198807:exon2:c.C283T:p.R95W,MSANTD3:NM_080655:exon2:c.C283T:p.R95W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	0.00563154887525	.	.	8.291e-06	0	0	0	0	1.509e-05	0	0	6.5e-06	1	154602	rs750365142	6.157e-06	6.156e-06	6.806e-06	5.5e-06	7.194e-06	2.9e-06	2.1e-06	3.09e-06	2.24e-06	0	0	0	0	0	0	7.194e-06	1.656e-05	0	6.579e-06	6.568e-06	1.286e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.002	0.72154	D	0.052	0.52389	T	0.988	0.62325	D	0.265	0.39681	B	.	.	.	.	0.90789	0.27569	N	0.695	0.17993	N	.	.	.	-1.78	0.47008	N	0.706	0.70966	-1.0418	0.16770	T	0.061	0.25635	T	8	0.34567094	0.51536	T	0.005632	0.14560	T	0.156	0.40720	0.353	0.35246	0.134241683229	0.13084	0.7252639514832134	0.72470	0.815294741634	0.66906	0.786744832993	0.79947	T	0.258377	0.62952	T	0.314384	0.84068	D	0.229301	0.84636	D	0.672388017177582	0.39444	D	0.947605	0.79780	D	0.0708827	0.15649	0.12827657	0.30864	0.0708827	0.15649	0.12827657	0.30863	-7.774	0.62479	D	.	.	0.187	0.56205	B	.;.;.;.;.;.	.;.;.;.;.;.	4.229598	0.64035	24.7	0.99878034798813986	0.95491	0.85844	0.45024	D	AEFDBHIJ	0.530434	0.55113	D	0.295792047234883	0.55936	3.75765	0.381795895160731	0.60444	4.231924	0.999998074356502	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.779548	0.98927	0	0.714379	0.83352	0	.	.	5.92	5.0	0.66209	2.823000	0.47781	1.446000	0.26567	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.944000	0.48669	0.2475:0.7525:0.0:0.0	14.080	0.64440	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	.	.	.	.	.	.	.	.	0.02632	788.33	93	chr9	100442221	.	C	T	788.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.3;DP=1094;ExcessHet=0;FS=0.96;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.24;ReadPosRankSum=0.347;SOR=0.916	GT:AD:DP:GQ:PL	0/1:39,38:77:99:802,0,990	18	0	1	0
chr9	110329254	110329254	T	A	exonic	TXNDC8	.	nonsynonymous SNV	TXNDC8:NM_001003936:exon3:c.A167T:p.N56I,TXNDC8:NM_001364963:exon3:c.A167T:p.N56I	.	496	1025	1	0	0	1	0.000487567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.00429241935057	.	.	1.665e-05	0	0	0	0	1.515e-05	0	6.101e-05	3.84e-05	1	26028	rs758538406	1.507e-05	1.573e-05	1.636e-05	1.377e-05	6.986e-05	9.87e-06	8.43e-06	3.006e-05	2.045e-05	0	0	0	0	0	0	1.44e-05	0	6.986e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.021	0.59159	D	0.964	0.55854	D	0.6	0.50752	P	0.444473	0.12586	N	0.727419	1	0.08975	N	0.86	0.21358	L	3.92	0.03462	T	-3.6	0.69357	D	0.313	0.37509	-0.9820	0.34538	T	0.011	0.04369	T	10	0.24405628	0.41630	T	0.004292	0.10404	T	0.054	0.15330	0.617	0.75116	0.043077524339	0.03247	0.25627596304768746	0.25541	0.0156212947983	0.01492	0.355424076319	0.18717	T	0.010048	0.09105	T	-0.333425	0.05857	T	-0.616089	0.11496	T	0.359640654443649	0.27395	T	0.585741	0.46599	T	0.5491408	0.69908	0.33301994	0.59144	0.5491408	0.69909	0.33301994	0.59144	-3.328	0.18016	T	.	.	0.192	0.45224	B	.;.	.;.	0.369603	0.07422	4.049	0.98268595120626889	0.39740	0.02308	0.06627	N	AEFI	0.060688	0.11551	N	-0.448582524666886	0.23787	1.279943	-0.641079603568309	0.18442	0.9852153	0.767864093735376	0.23620	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.07	-1.23	0.08977	-0.534000	0.06238	-1.534000	0.05225	-0.123000	0.13640	0.000000	0.06391	0.000000	0.08366	0.913000	0.44837	0.1687:0.1971:0.1748:0.4594	0.604	0.00700	941	0.13089	Thioredoxin 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	.	.	.	.	.	.	.	.	0.02632	1019.33	33	chr9	110329254	.	T	A	1019.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.074;DP=709;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.59;ReadPosRankSum=-1.292;SOR=0.634	GT:AD:DP:GQ:PL	0/1:31,44:75:99:1033,0,654	18	0	1	0
chr9	110697338	110697338	T	C	exonic	MUSK	.	nonsynonymous SNV	MUSK:NM_001166280:exon5:c.T500C:p.I167T,MUSK:NM_001166281:exon5:c.T500C:p.I167T,MUSK:NM_005592:exon5:c.T500C:p.I167T	Fetal akinesia deformation sequence, Autosomal recessive;Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, Autosomal recessive	1	1491	28	2	0	32	0.0106171	.	.	.	310665	Inborn_genetic_diseases|Congenital_myasthenic_syndrome_9|Fetal_akinesia_deformation_sequence_1|MUSK-related_disorder|not_provided	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014587,MedGen:C4225368,OMIM:616325,Orphanet:590|Human_Phenotype_Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150,Orphanet:994|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.073	0.0105356802295	0.0006	0.000998403	0.0011	0	8.639e-05	0.0001	0	0.0004	0	0.0064	0.0009638	149	154602	rs202045225	0.0008	0.0008	0.0006	0.0010	0.0076	0.0008	0.0008	0.0069	0.0067	2.988e-05	0.0001	0.0034	5.042e-05	1.875e-05	0.0076	0.0004	0.0009	0.0074	0.0005	0.0005	0.0003	0.0006	0.0060	0.0004	0.0004	0.0043	0.0037	0	0	0.0002	0.0035	0	0	0	0.0004	0	0.0060	0.227	0.27544	T	0.408	0.39645	T	0.0	0.02946	B	0.013	0.16460	B	0.000338	0.45700	N	0.223986	0.979095	0.47691	D	1.52	0.38360	L	-0.32	0.68181	T	-0.51	0.19509	N	0.366	0.44857	-0.9802	0.34955	T	0.180	0.52736	T	10	0.008293927	0.00188	T	0.010536	0.27195	T	0.073	0.21317	.	.	0.642361509819	0.63941	0.5543889347204217	0.55365	0.210267244558	0.23511	0.463808655739	0.33832	T	0.085329	0.37478	T	-0.457993	0.01012	T	-0.426787	0.30301	T	0.0137720248757838	0.00259	T	0.758424	0.41060	T	0.08186974	0.18832	0.09594791	0.22777	0.10821594	0.25586	0.1335766	0.32027	-7.667	0.58778	D	0.1998646848778895	0.26509	0.444	0.71856	A	.;.;.;.;.	.;.;.;.;.	1.949993	0.24767	16.52	0.7974631330892249	0.12882	0.79331	0.39290	D	AEFGBI	0.188104	0.31539	N	-0.666228027466867	0.16988	0.870428	-0.485543765250945	0.22551	1.225413	0.446587483137447	0.20502	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.88	3.57	0.40014	3.236000	0.51035	1.902000	0.29588	-0.912000	0.02253	1.000000	0.71638	1.000000	0.68203	0.904000	0.43992	0.0:0.1478:0.0:0.8522	10.855	0.46000	963	0.08280	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003525	0.000000	0.001359	0.005848	0.000000	0.000000	0.006098	0.011364	0.05263	4203.81	36	chr9	110697338	.	T	C	4203.81	.	AC=2;AF=0.053;AN=38;DP=774;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=29.4;SOR=0.889	GT:AD:DP:GQ:PL	1/1:0,143:143:99:4231,429,0	18	1	0	0
chr9	114008528	114008528	C	T	exonic	ZNF618	.	nonsynonymous SNV	ZNF618:NM_001318040:exon8:c.C632T:p.P211L,ZNF618:NM_001318041:exon8:c.C632T:p.P211L,ZNF618:NM_133374:exon8:c.C632T:p.P211L,ZNF618:NM_001318042:exon9:c.C728T:p.P243L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.154	0.02618695804	.	0.000599042	2.54e-05	0.0001	0.0002	0	0	0	0	0	3.88e-05	6	154602	rs531098757	9.578e-06	9.577e-06	8.168e-06	1.1e-05	5.974e-05	5.56e-06	4.35e-06	9.89e-06	3.7e-06	5.974e-05	2.236e-05	0	2.519e-05	0	0	8.994e-06	0	0	3.94e-05	3.937e-05	6.424e-05	1.343e-05	0.0002	1.714e-05	1.129e-05	5.278e-05	2.833e-05	4.812e-05	0	0.0002	0	0	0	0	1.47e-05	0	0	0.645	0.72154	T	0.004	0.74150	D	0.998	0.77913	D	0.866	0.61580	P	0.000863	0.41335	D	0.251889	0.996469	0.43255	D	0.805	0.20218	L	4.36	0.19166	T	-1.25	0.54217	N	0.697	0.73015	-1.1124	0.02872	T	0.079	0.31284	T	10	0.06596288	0.08977	T	0.026187	0.49115	D	0.154	0.40340	0.515	0.61459	0.117191471859	0.11215	0.4569200866594674	0.45610	1.15424711158	0.79313	0.582440853119	0.50429	T	0.026807	0.19761	T	-0.229611	0.16700	T	-0.38545	0.35085	T	0.452551305294037	0.30891	T	0.968903	0.88767	D	0.05157224	0.09489	0.054561388	0.09408	0.05157224	0.09489	0.054561388	0.09407	-4.25	0.27470	T	.	.	0.142	0.42244	B	.;.;.;.;.	.;.;.;.;.	5.154608	0.86348	28.9	0.99861918251391035	0.94002	0.84139	0.43223	D	AEFDBI	0.291531	0.40264	N	0.530119233595926	0.68879	5.278426	0.607134988764905	0.75458	6.313861	0.999999961632585	0.74766	0.706548	0.73137	0	0.610034	0.51514	0	0.80507	0.99327	0	0.714379	0.83352	0	.	.	5.82	5.82	0.92740	5.239000	0.65196	7.637000	0.63009	0.545000	0.25583	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:1.0:0.0:0.0	17.583	0.87871	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	.	.	.	.	.	.	.	.	0.05263	2445.81	33	chr9	114008528	.	C	T	2445.81	.	AC=2;AF=0.053;AN=38;DP=746;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=31.76;SOR=1.012	GT:AD:DP:GQ:PL	1/1:0,77:77:99:2473,230,0	18	1	0	0
chr9	114076600	114076600	C	T	exonic	AMBP	.	stopgain	AMBP:NM_001633:exon2:c.G258A:p.W86X	.	422	1097	3	0	0	3	0.0013655	0.5767	0.688	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.655e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs535941759	5.475e-06	5.472e-06	1.362e-06	9.629e-06	0.0003	2.36e-06	1.7e-06	6.098e-05	2.523e-05	0	0	0	0	0	0.0003	8.994e-07	3.313e-05	3.479e-05	6.568e-06	6.562e-06	0	1.343e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	0.160054	0.17692	N	0.547781	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.901	0.90138	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.332981	0.85361	D	0.422055	0.92809	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Dominant	High	8.911513	0.98196	39	0.99552664837592242	0.71273	0.77498	0.38111	D	AEFDBHCI	0.698574	0.65621	D	0.669143680922428	0.77613	6.708433	0.424871363085941	0.63117	4.53939	0.999999994095814	0.74766	0.631981	0.41245	0	0.573888	0.26702	0	0.779548	0.98927	0	0.530356	0.10902	0	.	.	3.86	1.89	0.24700	1.616000	0.36543	4.024000	0.41277	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.424000	0.27317	0.2215:0.5635:0.215:0.0	5.823	0.17796	697	0.58201	Lipocalin/cytosolic fatty-acid 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	.	.	.	.	.	.	.	.	0.05263	4091.81	33	chr9	114076600	.	C	T	4091.81	.	AC=2;AF=0.053;AN=38;DP=767;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=28.82;SOR=1.011	GT:AD:DP:GQ:PL	1/1:0,142:142:99:4119,426,0	18	1	0	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	.	.	.	.	.	.	.	.	0.3824	7995.7	272	chr9	114406374	.	C	G	7995.7	.	AC=13;AF=0.382;AN=34;BaseQRankSum=-3.035;DP=4089;ExcessHet=13.8672;FS=165.2;InbreedingCoeff=-0.5835;MLEAC=14;MLEAF=0.412;MQ=60;MQRankSum=0;QD=3.01;ReadPosRankSum=0.718;SOR=13.316	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:155,60:223:99:.:.:574,0,5695:.	4	0	13	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	.	.	.	.	.	.	.	.	0.2778	6730.11	112	chr9	114406375	.	C	G	6730.11	.	AC=10;AF=0.278;AN=36;BaseQRankSum=-6.068;DP=3407;ExcessHet=6.9875;FS=164.626;InbreedingCoeff=-0.3828;MLEAC=10;MLEAF=0.278;MQ=60;MQRankSum=0;QD=3.3;ReadPosRankSum=0.637;SOR=12.623	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:176,60:236:99:.:.:573,0,5770:.	8	0	10	1
chr9	120402961	120402961	G	C	exonic	CDK5RAP2	.	nonsynonymous SNV	CDK5RAP2:NM_001272039:exon31:c.C4462G:p.L1488V,CDK5RAP2:NM_001011649:exon33:c.C4915G:p.L1639V,CDK5RAP2:NM_018249:exon34:c.C5152G:p.L1718V	Microcephaly 3, primary, autosomal recessive, Autosomal recessive	0	1508	14	0	0	14	0.00462046	.	.	YES	168716	Microcephaly_3,_primary,_autosomal_recessive|Inborn_genetic_diseases|not_provided	MONDO:MONDO:0011488,MedGen:C1858108,OMIM:604804,Orphanet:2512|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.069	0.0125930482932	0.0007	0.000798722	0.0010	0.0004	0.0015	0	0	0.0011	0.0022	0.0013	0.0009573	148	154602	rs141004029	0.0009	0.0009	0.0009	0.0010	0.0021	0.0009	0.0009	0.0013	0.0012	0.0001	0.0005	0	0	3.744e-05	0.0021	0.0010	0.0007	0.0015	0.0006	0.0006	0.0006	0.0006	0.0010	0.0005	0.0004	0.0008	0.0008	0.0001	0.0033	0.0005	0	0	0	0	0.0010	0	0.0006	0.019	0.50132	D	0.038	0.54159	D	0.002	0.29802	B	0.003	0.24676	B	0.280677	0.14951	N	0.524574	0.999999	0.08975	N	1.735	0.44892	L	0.73	0.50721	T	-1.21	0.38540	N	0.229	0.25745	-0.9950	0.31299	T	0.082	0.32207	T	10	0.01521641	0.00319	T	0.012593	0.31297	T	0.069	0.20116	.	.	0.262175524916	0.25828	0.10212146090955534	0.10142	0.0759444557685	0.08528	0.264352828264	0.05420	T	0.129	0.45765	T	-0.512091	0.00488	T	-0.548893	0.17432	T	0.00350000421217038	0.00037	T	0.814918	0.48193	T	0.027340295	0.01911	0.04408644	0.05634	0.027340295	0.01911	0.04408644	0.05634	-4.381	0.29298	T	.	.	0.096	0.18331	B	.;.;.;.;.	.;.;.;.;.	0.593348	0.09620	6.391	0.71221061163324828	0.09556	0.17725	0.19961	N	AEFDBCI	0.133686	0.25343	N	-0.951765507773095	0.09653	0.4577988	-1.09375276903406	0.07822	0.3820538	0.999971517013015	0.50053	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.77	-4.8	0.02957	-0.008000	0.12724	1.162000	0.24560	0.618000	0.50648	0.023000	0.19925	0.002000	0.18203	0.019000	0.11356	0.2933:0.1098:0.245:0.3518	0.592	0.00682	887	0.27948	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.000000	0.002717	0.000000	0.000000	0.000000	0.003049	0.007576	0.02632	1362.33	34	chr9	120402961	.	G	C	1362.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.903;DP=754;ExcessHet=0;FS=3.24;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.17;ReadPosRankSum=-0.074;SOR=0.927	GT:AD:DP:GQ:PL	0/1:63,59:122:99:1376,0,1662	18	0	1	0
chr9	122628733	122628733	G	C	exonic	OR1B1	.	nonsynonymous SNV	OR1B1:NM_001004450:exon1:c.C803G:p.P268R	.	423	1094	4	1	0	6	0.00273473	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.148	.	0.0085	0.00439297	0.0087	0.0016	0.0019	0	0.0302	0.0117	0.0110	0.0014	0.0082664	1278	154602	rs41316978	0.0097	0.0097	0.0098	0.0095	0.0103	0.0095	0.0095	0.0101	0.0101	0.0016	0.0023	0.0059	2.519e-05	0.0320	0.0026	0.0103	0.0092	0.0016	0.0081	0.0081	0.0079	0.0084	0.0105	0.0077	0.0076	0.0099	0.0096	0.0013	0.0263	0.0060	0.0069	0	0.0276	0.0068	0.0105	0.0100	0.0008	.	.	.	.	.	.	0.878	0.48285	P	0.739	0.55653	P	0.000503	0.43753	D	0.000000	0.796487	0.34455	D	3.695	0.94570	H	.	.	.	.	.	.	.	.	-0.4331	0.70964	T	0.001	0.00255	T	10	0.004943043	0.00106	T	.	.	.	.	.	.	.	.	.	0.09346829369419099	0.09278	.	.	0.263441860676	0.05307	T	0.008442	0.07749	T	-0.570386	0.00220	T	-0.582702	0.14305	T	0.122890558345608	0.14710	T	0.389261	0.09643	T	0.44681746	0.63840	0.5509906	0.74038	0.44681746	0.63840	0.5509906	0.74038	-6.634	0.51312	T	.	.	0.243	0.47752	B	.	.	3.849627	0.55755	23.6	0.99713628094915463	0.81493	0.95252	0.64004	D	AEFBI	0.350617	0.44400	N	0.261147569610131	0.54193	3.585506	0.222604164859882	0.51105	3.295892	4.45929180659228E-4	0.07004	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.72	2.8	0.31881	1.650000	0.36908	3.933000	0.40549	-0.161000	0.11593	0.938000	0.32564	0.999000	0.35428	0.994000	0.71098	0.0:0.1457:0.703:0.1513	10.494	0.43955	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	0.002014	0.000000	0.005435	0.000000	0.000000	0.000000	0.009146	0.000000	0.02632	1263.33	57	chr9	122628733	.	G	C	1263.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.863;DP=1122;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.19;ReadPosRankSum=0.646;SOR=0.61	GT:AD:DP:GQ:PL	0/1:41,48:89:99:1277,0,1057	18	0	1	0
chr9	122724732	122724732	T	C	exonic	OR1L4	.	nonsynonymous SNV	OR1L4:NM_001005235:exon1:c.T743C:p.V248A	.	428	916	178	0	0	178	0.0885572	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.00143063714583	.	.	6.622e-05	0	0.0002	0.0001	0.0002	6.017e-05	0	0	3.84e-05	1	26028	rs748975619	0.0001	0.0021	7.836e-05	0.0002	0.0008	0.0001	0.0001	0.0003	0.0002	9.132e-05	0.0002	7.963e-05	0.0002	4.349e-05	0.0008	0.0002	0.0003	3.688e-05	0.0002	0.0017	0.0001	0.0002	0.0005	0.0001	8.825e-05	8.643e-05	4.843e-05	0.0001	0	0.0002	0	0.0002	0.0003	0	0.0001	0	0.0005	0.066	0.36113	T	0.063	0.45110	T	0.002	0.09854	B	0.012	0.16012	B	0.119040	0.19091	N	0.433255	1	0.08975	N	2.24	0.63355	M	8.47	0.00218	T	-3.71	0.70674	D	0.163	0.17140	-0.9813	0.34701	T	0.000	0.00152	T	10	0.08632538	0.14663	T	0.001431	0.02139	T	0.060	0.17295	.	.	0.380730819819	0.37686	0.050310918284802233	0.04974	0.137390497862	0.15494	0.204048782587	0.00584	T	0.018055	0.14619	T	-0.26113	0.12768	T	-0.612872	0.11753	T	0.0930222347378731	0.11572	T	0.328467	0.06836	T	0.12669528	0.29668	0.18975647	0.42339	0.12669528	0.29667	0.18975647	0.42339	-5.477	0.41653	T	.	.	0.162	0.35767	B	.	.	1.361823	0.17710	13.32	0.37116804741921844	0.02427	0.22928	0.21909	N	AEFGBI	0.092843	0.18792	N	-1.18873539693136	0.05170	0.2350358	-1.18788360110161	0.06111	0.2931782	0.00732444700759022	0.11439	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.23	3.09	0.34677	0.354000	0.19885	0.254000	0.16463	-1.735000	0.00709	0.000000	0.06391	0.000000	0.08366	0.027000	0.12703	0.0:0.1836:0.0:0.8164	7.537	0.26888	889	0.27310	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.066465	0.232323	0.014946	0.032164	0.150000	0.008621	0.100610	0.034091	0.4	10786.3	429	chr9	122724732	.	T	C	10786.3	.	AC=12;AF=0.4;AN=30;BaseQRankSum=7.47;DP=5828;ExcessHet=11.1788;FS=27.147;InbreedingCoeff=-0.5846;MLEAC=14;MLEAF=0.467;MQ=58.23;MQRankSum=-15.38;QD=2.81;ReadPosRankSum=-6.896;SOR=4.085	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:290,46:336:99:0|1:122724732_T_C:905,0,11931:122724732	3	0	12	4
chr9	122724738	122724738	T	C	exonic	OR1L4	.	nonsynonymous SNV	OR1L4:NM_001005235:exon1:c.T749C:p.V250A	.	428	1012	82	0	0	82	0.0389364	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.00138298223274	.	.	8.242e-06	0	0	0	0	1.499e-05	0	0	3.84e-05	1	26028	rs773750205	4.128e-06	0.0017	4.098e-06	4.158e-06	4.494e-05	1.49e-06	9.8e-07	7.45e-06	2.79e-06	2.995e-05	4.494e-05	0	2.533e-05	0	0	9.039e-07	1.665e-05	0	2.725e-05	0.0009	3.982e-05	1.4e-05	0.0002	8.37e-06	5.29e-06	.	.	2.5e-05	0	0	0	0	0.0002	0	0	0	0.0002	0.56	0.06381	T	0.334	0.18340	T	0.0	0.02946	B	0.003	0.08700	B	0.363490	0.04318	N	1.430160	1	0.08975	N	-0.355	0.03127	N	0.93	0.44065	T	0.28	0.04233	N	0.048	0.01999	-1.0082	0.27479	T	0.042	0.17994	T	10	0.027532607	0.00898	T	0.001383	0.02011	T	0.010	0.01040	.	.	0.146414634003	0.14194	0.029921180382566498	0.02941	0.133905216648	0.15082	0.228572815657	0.01864	T	0.008154	0.07505	T	-0.373075	0.03441	T	-0.773673	0.02649	T	0.0352781535904976	0.02857	T	0.0471953	0.00337	T	0.018524058	0.00374	0.028399432	0.01073	0.018524058	0.00374	0.028399432	0.01073	-3.488	0.16265	T	.	.	0.091	0.13127	B	.	.	-1.366501	0.00385	0.007	0.26517900806360473	0.01274	0.00656	0.02847	N	AEFGBI	0.051091	0.08994	N	-1.92157175688344	0.00310	0.01331125	-1.9879660246432	0.00325	0.01433726	0.679012312914238	0.22457	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.23	-7.85	0.01056	-3.495000	0.00503	-12.828000	0.00498	-1.735000	0.00709	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2704:0.1842:0.5455	8.760	0.33827	889	0.27310	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.375	7435.64	407	chr9	122724738	.	T	C	7435.64	.	AC=12;AF=0.375;AN=32;BaseQRankSum=2.09;DP=4871;ExcessHet=11.1788;FS=31.668;InbreedingCoeff=-0.551;MLEAC=13;MLEAF=0.406;MQ=58.35;MQRankSum=-16.61;QD=2.04;ReadPosRankSum=-6.486;SOR=5.823	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:282,36:318:99:0|1:122724732_T_C:663,0,11733:122724732	4	0	12	3
chr9	127707145	127707145	G	C	exonic	CFAP157	.	nonsynonymous SNV	CFAP157:NM_001012502:exon1:c.G114C:p.K38N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.0141487804833	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.01	0.65728	D	0.968	0.56581	D	0.79	0.57710	P	0.039025	0.24217	N	0.404824	0.928062	0.27129	N	.	.	.	0.97	0.42502	T	-3.18	0.64478	D	0.231	0.25989	-0.9529	0.40468	T	0.124	0.42799	T	10	0.20483169	0.36688	T	0.014149	0.34071	T	0.051	0.14325	0.205	0.12076	0.352476196916	0.34857	0.5839401287200625	0.58323	0.440069081721	0.44022	.	.	.	0.276118	0.64869	T	-0.280823	0.10581	T	-0.641159	0.09584	T	0.847960948944092	0.49990	D	0.612539	0.23323	T	0.19740249	0.41603	0.14692236	0.34791	0.19740249	0.41603	0.14692236	0.34790	-11.355	0.81569	D	.	.	0.662	0.71411	P	.;.	.;.	2.593801	0.33655	19.40	0.9961891825752538	0.75293	0.24477	0.22406	N	AEFDGBCI	0.101029	0.20301	N	-0.182420340231527	0.33867	1.926345	-0.347634602073133	0.26583	1.469229	0.999985991372221	0.51787	0.497415	0.19182	0	0.59043	0.45803	0	0.587068	0.30358	0	0.645665	0.59343	0	.	.	5.46	-0.0785	0.13048	0.297000	0.18856	0.054000	0.14040	0.649000	0.52879	0.541000	0.27275	0.449000	0.24943	0.445000	0.27784	0.3326:0.2731:0.3943:0.0	4.776	0.12549	268	0.89479	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	726.55	34	chr9	127707145	.	G	C	726.55	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-3.952;DP=983;ExcessHet=0.7564;FS=137.824;InbreedingCoeff=-0.1176;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=2.13;ReadPosRankSum=2.07;SOR=8.955	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:56,10:66:99:0|1:127707145_G_C:162,0,2140:127707145	17	0	2	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	.	.	.	.	.	.	.	.	0.3529	3675.71	62	chr9	127707148	.	G	C	3675.71	.	AC=12;AF=0.353;AN=34;BaseQRankSum=-1.183;DP=1556;ExcessHet=20.8569;FS=238.955;InbreedingCoeff=-0.7271;MLEAC=13;MLEAF=0.382;MQ=60;MQRankSum=0;QD=2.9;ReadPosRankSum=1.4;SOR=11.739	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:56,12:68:99:0|1:127707145_G_C:213,0,2134:127707145	5	0	12	2
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	.	.	.	.	.	.	.	.	0.2059	1826.47	51	chr9	127707149	.	T	C	1826.47	.	AC=7;AF=0.206;AN=34;BaseQRankSum=-1.879;DP=1323;ExcessHet=2.9153;FS=164.549;InbreedingCoeff=-0.2807;MLEAC=8;MLEAF=0.235;MQ=60;MQRankSum=0;QD=3.05;ReadPosRankSum=1.37;SOR=10.341	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:55,12:67:99:0|1:127707145_G_C:215,0,2127:127707145	10	0	7	2
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	.	.	.	.	.	.	.	.	0.1316	1618.24	51	chr9	127707150	.	T	C	1618.24	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-2.516;DP=1273;ExcessHet=1.3;FS=159.969;InbreedingCoeff=-0.1413;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=3.56;ReadPosRankSum=0.952;SOR=9.869	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:52,12:64:99:0|1:127707145_G_C:224,0,2057:127707145	14	0	5	0
chr9	128999777	128999777	G	A	exonic	NUP188	.	nonsynonymous SNV	NUP188:NM_015354:exon34:c.G3815A:p.R1272Q	.	.	.	.	.	.	.	.	.	.	.	2268596	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.093	0.0138364907819	.	.	8.262e-06	0	0	0	0	1.503e-05	0	0	1.94e-05	3	154602	rs758697460	5.199e-05	5.267e-05	5.853e-05	4.538e-05	8.944e-05	4.258e-05	3.888e-05	4.786e-05	4.365e-05	2.987e-05	8.944e-05	0	0	0	0	5.935e-05	8.279e-05	0	7.227e-05	7.223e-05	5.138e-05	9.413e-05	0.0005	3.971e-05	3.127e-05	0.0003	0.0002	2.412e-05	0	0.0005	0	0	0	0	2.939e-05	0	0	0.21	0.19639	T	0.348	0.17585	T	0.897	0.49385	P	0.273	0.40007	B	0.000029	0.55875	D	0.122738	0.999956	0.52396	D	1.995	0.54099	M	1.48	0.31731	T	-0.54	0.16598	N	0.693	0.69825	-1.0708	0.09238	T	0.077	0.30798	T	10	0.38614368	0.54554	T	0.013836	0.33543	T	0.093	0.26882	0.152	0.05544	0.223474106383	0.21959	0.26013053067810527	0.25927	0.413762206108	0.42070	0.478846937418	0.35898	T	0.018088	0.14645	T	-0.214226	0.18789	T	-0.319795	0.42597	T	0.199135150820523	0.20368	T	0.956904	0.83579	D	0.094502024	0.22219	0.09647973	0.22926	0.094502024	0.22218	0.09647973	0.22926	-3.289	0.13596	T	.	.	0.094	0.14431	B	.	.	3.843168	0.55623	23.6	0.99873163910268759	0.95076	0.94712	0.62071	D	AEFDGBCI	0.823374	0.74350	D	0.318378636753359	0.57091	3.875352	0.423698884313626	0.63046	4.530693	0.999999999339156	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.28	5.28	0.74118	7.186000	0.77262	9.924000	0.82528	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:0.0:1.0:0.0	17.883	0.88762	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	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1394.33	38	chr9	128999777	.	G	A	1394.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.93;DP=804;ExcessHet=0;FS=5.025;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.03;ReadPosRankSum=-0.078;SOR=1.197	GT:AD:DP:GQ:PL	0/1:56,51:107:99:1408,0,1308	18	0	1	0
chr9	129068288	129068288	G	A	exonic	MIGA2	.	nonsynonymous SNV	MIGA2:NM_001329990:exon13:c.G1360A:p.A454T,MIGA2:NM_032809:exon13:c.G1552A:p.A518T	.	421	1100	0	1	0	2	0.000908265	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.181	.	.	0.00758786	0.0028	0	0	0.0347	0.0002	0.0001	0.0068	0.0014	0.0025873	400	154602	rs28365557	0.0011	0.0011	0.0011	0.0011	0.0332	0.0011	0.0011	0.0317	0.0311	8.967e-05	6.723e-05	0	0.0332	7.78e-05	0.0002	5.848e-05	0.0021	0.0013	0.0015	0.0015	0.0014	0.0016	0.0388	0.0013	0.0013	0.0344	0.0327	2.406e-05	0	0.0003	0	0.0388	9.423e-05	0	0.0001	0.0014	0.0021	0.57	0.06184	T	0.744	0.04912	T	0.814	0.45487	P	0.49	0.47330	P	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	1.68	0.27184	T	-1.89	0.44094	N	0.936	0.94196	-1.0828	0.06814	T	0.032	0.13811	T	10	0.012262702	0.00264	T	.	.	.	0.181	0.45247	.	.	0.621672535409	0.61860	0.7592294643511021	0.75870	1.02579315666	0.75269	0.734980940819	0.72235	T	0.03514	0.23601	T	-0.349154	0.04781	T	-0.245744	0.50236	T	0.0549012612516482	0.06341	T	0.922308	0.71764	D	0.14165704	0.32632	0.19197607	0.42686	0.14165704	0.32632	0.19197607	0.42685	-6.08	0.46944	T	.	.	0.523	0.65621	A	.	.	4.078651	0.60652	24.2	0.99801938438742011	0.88639	0.98472	0.83137	D	AEFDGBI	0.780427	0.71232	D	0.553289957916972	0.70282	5.478834	0.548377177581546	0.71285	5.631488	0.999999999500306	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.693117	0.63056	0	0.714379	0.83352	0	.	.	5.31	5.31	0.75063	9.328000	0.96407	11.736000	0.95093	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.378000	0.26290	0.0:0.0:1.0:0.0	17.967	0.89023	905	0.23532	.	.	.	.	.	.	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	0.02632	1591.33	34	chr9	129068288	.	G	A	1591.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.439;DP=766;ExcessHet=0;FS=4.22;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.53;ReadPosRankSum=-0.948;SOR=0.405	GT:AD:DP:GQ:PL	0/1:70,68:138:99:1605,0,1827	18	0	1	0
chr9	132166965	132166965	G	A	exonic	NTNG2	.	nonsynonymous SNV	NTNG2:NM_032536:exon2:c.G134A:p.R45H	.	419	1096	7	0	0	7	0.00318327	.	.	.	700849	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.100	.	0.0050	0.00259585	0.0064	0.0017	0.0022	0	0.0107	0.0096	0.0044	0.0013	0.0063647	984	154602	rs56128215	0.0074	0.0074	0.0077	0.0072	0.0081	0.0073	0.0073	0.0080	0.0079	0.0012	0.0032	0.0183	2.519e-05	0.0105	0.0043	0.0081	0.0079	0.0011	0.0056	0.0056	0.0055	0.0056	0.0080	0.0053	0.0051	0.0069	0.0066	0.0011	0	0.0080	0.0176	0	0.0094	0.0034	0.0074	0.0061	0.0008	0.136	0.38185	T	0.09	0.54934	T	0.929	0.51690	P	0.342	0.42471	B	0.011529	0.29496	N	0.297064	0.940376	0.26810	N	0	0.06538	N	1.95	0.22474	T	-0.28	0.12099	N	0.316	0.35620	-1.0415	0.16860	T	0.045	0.19397	T	10	0.0054740906	0.00121	T	.	.	.	0.100	0.28662	.	.	0.369898441341	0.36605	0.7174046155494864	0.71683	1.87575306562	0.92559	0.416593551636	0.27369	T	0.255654	0.62647	T	-0.506238	0.00527	T	-0.492988	0.23078	T	0.0106589007741484	0.00150	T	0.936406	0.76420	D	0.12338467	0.28974	0.14020489	0.33428	0.12338467	0.28974	0.14020489	0.33427	-9.626	0.74276	D	0.11888565413329401	0.11016	0.090	0.12797	B	.;.	.;.	5.193512	0.87108	29.1	0.99898201814941445	0.97048	0.81893	0.41208	D	AEFDGBHCI	0.307462	0.41433	N	0.259877712593569	0.54129	3.579306	0.389114499461602	0.60892	4.282212	0.999999999999373	0.74766	0.696267	0.57585	0	0.596491	0.49125	0	0.691665	0.62940	0	0.526665	0.08891	0	.	.	5.67	5.67	0.87673	2.220000	0.42549	7.530000	0.59902	0.676000	0.76740	0.999000	0.42656	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.8459:0.1541	13.687	0.61999	952	0.10565	.;Laminin, N-terminal|Laminin, N-terminal|Laminin, 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	0	0	1	0	0.005035	0.000000	0.004076	0.002924	0.000000	0.000000	0.015244	0.003788	0.02632	1582.33	34	chr9	132166965	.	G	A	1582.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.657;DP=789;ExcessHet=0;FS=1.29;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.76;ReadPosRankSum=0.542;SOR=0.589	GT:AD:DP:GQ:PL	0/1:78,69:147:99:1596,0,1858	18	0	1	0
chr9	132537613	132537615	CTT	-	exonic	CFAP77	.	nonframeshift deletion	CFAP77:NM_001282957:exon4:c.537_539del:p.F181del,CFAP77:NM_207417:exon5:c.645_647del:p.F217del	.	422	1089	10	1	0	12	0.00547945	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0084	0.00259585	0.0037	0.0011	0.0024	0	0.0035	0.0052	0.0033	0.0023	0.0005763	15	26028	rs542793318	0.0052	0.0052	0.0053	0.0051	0.0061	0.0051	0.0051	0.0060	0.0059	0.0009	0.0025	0.0003	0	0.0047	0.0021	0.0061	0.0041	0.0022	0.0034	0.0034	0.0037	0.0031	0.0053	0.0032	0.0031	0.0049	0.0047	0.0011	0	0.0033	0	0.0002	0.0041	0	0.0053	0.0047	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001512	0.000000	0.000000	0.000000	0.000000	0.000000	0.009202	0.000000	0.02632	2226.29	33	chr9	132537612	.	CCTT	C	2226.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.153;DP=802;ExcessHet=0;FS=2.508;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=20.61;ReadPosRankSum=-1.024;SOR=0.473	GT:AD:DP:GQ:PL	0/1:51,57:108:99:2240,0,1970	18	0	1	0
chr9	135772926	135772926	C	G	exonic	KCNT1	.	nonsynonymous SNV	KCNT1:NM_001272003:exon18:c.C2085G:p.D695E,KCNT1:NM_020822:exon19:c.C2220G:p.D740E	Epilepsy, nocturnal frontal lobe, 5, Autosomal dominant;Epileptic encephalopathy, early infantile, 14, Autosomal dominant	9	1496	16	1	0	18	0.00598007	.	.	.	459244	Developmental_and_epileptic_encephalopathy,_14|Autosomal_dominant_nocturnal_frontal_lobe_epilepsy_5|not_provided|KCNT1-related_disorder|Inborn_genetic_diseases	MONDO:MONDO:0013989,MedGen:C3554195,OMIM:614959,Orphanet:293181|MONDO:MONDO:0014002,MedGen:C3554306,OMIM:615005,Orphanet:98784|MedGen:C3661900|.|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.216	0.023329306857	0.0002	0.000599042	0.0016	0	0	0	0	0.0008	0	0.0065	0.0004981	77	154602	rs148162797	0.0003	0.0004	0.0002	0.0005	0.0042	0.0003	0.0003	0.0038	0.0036	3.243e-05	0.0003	0.0003	0	0.0002	0.0024	7.682e-05	0.0005	0.0042	0.0003	0.0003	0.0001	0.0005	0.0046	0.0002	0.0002	0.0031	0.0026	4.811e-05	0	0.0005	0	0	0	0.0034	0.0001	0.0024	0.0046	0.724	0.40832	T	0.502	0.11829	T	0.003	0.11197	B	0.006	0.12133	B	0.000235	0.47286	N	0.176448	0.908684	0.36354	D	1.54	0.38927	L	-1.24	0.86888	T	-0.88	0.41618	N	0.27	0.35727	-1.0035	0.28903	T	0.264	0.63544	T	10	0.0068859756	0.00156	T	0.023329	0.46285	T	0.216	0.50959	0.406	0.43902	0.664427534658	0.66160	0.4032890132786649	0.40244	0.594975163302	0.54791	0.587972760201	0.51208	T	0.042691	0.26264	T	-0.514753	0.00472	T	-0.51334	0.20973	T	0.0119421629226858	0.00187	T	0.716128	0.32863	T	0.033071313	0.03453	0.033321716	0.02208	0.032592442	0.03313	0.03737962	0.03379	-4.765	0.36259	T	0.13312122002931834	0.14257	0.102	0.22208	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	-1.868754	0.00135	0.002	0.47387542583681591	0.03870	0.08586	0.14495	N	AEFDGBI	0.161338	0.28738	N	-1.58990081410054	0.01316	0.05729786	-1.77444655472272	0.00845	0.03773171	0.984980942395563	0.30807	0.514905	0.20481	0	0.547309	0.14657	0	0.603688	0.36954	0	0.562822	0.20929	0	.	.	3.88	-7.76	0.01094	-4.495000	0.00259	-13.526000	0.00453	-2.113000	0.00388	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.323:0.2758:0.4011	6.839	0.23135	546	0.72524	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.001540	0.000000	0.001366	0.002959	0.000000	0.000000	0.003145	0.003817	0.02632	1351.33	35	chr9	135772926	.	C	G	1351.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.61;DP=786;ExcessHet=0;FS=5.365;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.01;ReadPosRankSum=1.52;SOR=1.197	GT:AD:DP:GQ:PL	0/1:79,56:135:99:1365,0,1816	18	0	1	0
chr9	135938340	135938340	G	T	exonic	UBAC1	.	nonsynonymous SNV	UBAC1:NM_016172:exon9:c.C984A:p.D328E	.	424	1087	10	1	0	12	0.00548948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.198	0.0188026661095	.	0.000599042	0.0004	0	8.682e-05	0	0	6.06e-05	0	0.0029	0.0003687	57	154602	rs372577322	0.0002	0.0002	0.0001	0.0004	0.0028	0.0002	0.0002	0.0025	0.0024	5.974e-05	0	0	0	0	0.0019	7.464e-05	0.0004	0.0028	0.0001	0.0001	5.139e-05	0.0002	0.0031	9.145e-05	7.701e-05	0.0019	0.0015	0	0	0	0	0	0	0	7.352e-05	0.0005	0.0031	0.51	0.07497	T	0.0	0.92824	D	0.999	0.77913	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.98	0.24916	L	1.86	0.24285	T	-1.33	0.33197	N	0.448	0.48596	-1.1002	0.04067	T	0.069	0.28080	T	10	0.01339221	0.00284	T	0.018803	0.40979	T	0.198	0.48105	0.246	0.18139	0.382275360157	0.37844	0.4832373460098827	0.48243	0.714520733778	0.61891	0.57425069809	0.49277	T	0.022193	0.17150	T	-0.304245	0.08265	T	-0.213482	0.53362	T	0.0809856030870634	0.10113	T	0.816518	0.47234	T	0.10508884	0.24844	0.11774421	0.28423	0.10508884	0.24844	0.11774421	0.28422	-6.108	0.47174	T	.	.	0.274	0.50772	B	.	.	3.643930	0.51686	23.1	0.9946591020491321	0.66049	0.98458	0.82987	D	AEFGBCI	0.707262	0.66205	D	0.361597419662683	0.59354	4.114163	0.400575010362586	0.61601	4.362487	0.99999440237496	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.8	3.89	0.44098	5.398000	0.66053	4.897000	0.45822	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0873:0.0:0.9127:0.0	11.506	0.49718	769	0.49307	Ubiquitin-associated 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	0.011364	0.02632	1693.33	36	chr9	135938340	.	G	T	1693.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.972;DP=772;ExcessHet=0;FS=0.663;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.73;ReadPosRankSum=-2.21;SOR=0.783	GT:AD:DP:GQ:PL	0/1:66,67:133:99:1707,0,1637	18	0	1	0
chr9	136254423	136254423	G	C	exonic	CCDC187	.	nonsynonymous SNV	CCDC187:NM_001378188:exon26:c.C5405G:p.A1802G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.08e-05	6.156e-06	1.115e-05	1.04e-05	0.0019	5.08e-06	3.68e-06	0.0005	0.0003	0	0	0	0	0	0.0019	6.562e-06	3.663e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12058988	0.22844	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.344066	0.07525	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	0.26451	B	.	.	0.467681	0.08376	5.126	0.44869433729707203	0.03481	0.04071	0.09525	N	AEFDGBHCI	.	.	.	.	.	.	.	.	.	0.999999960528567	0.74766	0.056701	0.00814	0	0.063554	0.01753	0	0.065574	0.01856	0	0.079188	0.02158	0	0.0722778	0.16942	2.33	-2.65	0.05739	-0.012000	0.12637	-0.125000	0.11680	-0.491000	0.05044	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.4873:0.2296:0.2831:0.0	3.519	0.07292	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	.	.	.	.	.	.	.	.	0.08333	73.64	.	chr9	136254423	.	G	C	73.64	.	AC=2;AF=0.083;AN=24;DP=33;ExcessHet=0;FS=0;InbreedingCoeff=0.353;MLEAC=2;MLEAF=0.083;MQ=60;QD=24.55;SOR=1.179	GT:AD:DP:GQ:PL	1/1:0,3:3:9:89,9,0	11	1	0	7
chr9	136507350	136507350	C	T	exonic	NOTCH1	.	nonsynonymous SNV	NOTCH1:NM_017617:exon22:c.G3598A:p.D1200N	Adams-Oliver syndrome 5, Autosomal dominant;Aortic valve disease 1, Autosomal dominant	0	1520	2	0	0	2	0.000657462	.	.	.	138667	not_provided|Adams-Oliver_syndrome_5|not_specified	MedGen:C3661900|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028,Orphanet:974|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.614	0.155065017778	.	0.000199681	0.0001	0	0	0	0	1.574e-05	0	0.0009	0.00011	17	154602	rs544640305	4.382e-05	4.378e-05	1.771e-05	7.019e-05	0.0009	3.512e-05	3.196e-05	0.0004	0.0004	2.987e-05	0	0	0	0	0.0009	3.597e-06	9.939e-05	0.0006	1.313e-05	1.312e-05	0	2.685e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.052	0.39097	T	0.079	0.42086	T	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.21	0.30464	L	-2.17	0.86624	D	-4.29	0.76414	D	0.829	0.82458	0.275	0.87150	D	0.714	0.90185	D	10	0.7822559	0.77951	D	0.155065	0.83607	D	0.614	0.84932	0.785	0.90844	0.805439251494	0.80362	.	.	1.15897877142	0.79417	0.718930542469	0.69890	T	0.811943	0.95310	D	-0.268137	0.11966	T	-0.265453	0.48278	T	0.704302489757538	0.40924	D	0.961904	0.85651	D	0.33552966	0.55921	0.33732933	0.59524	0.33552966	0.55921	0.33732933	0.59524	-1.461	0.01686	T	.	.	.	.	.	.	.	5.250451	0.88155	29.5	0.99923061938042479	0.98917	0.99820	0.99675	D	AEFDGBI	0.851892	0.76877	D	0.619427248999268	0.74405	6.127056	0.622946257625457	0.76609	6.522836	0.999999999999975	0.74766	0.67177	0.52595	0	0.577304	0.33150	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	5.43	5.43	0.79006	7.475000	0.80038	5.895000	0.50812	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.892000	0.42986	0.0:1.0:0.0:0.0	18.205	0.89787	934	0.15400	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	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001008	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.000000	0.02632	1073.33	39	chr9	136507350	.	C	T	1073.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.181;DP=742;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.76;ReadPosRankSum=-0.443;SOR=0.622	GT:AD:DP:GQ:PL	0/1:62,48:110:99:1087,0,1472	18	0	1	0
chr9	136859064	136859064	G	A	exonic	MAMDC4	.	nonsynonymous SNV	MAMDC4:NM_206920:exon24:c.G3016A:p.A1006T	.	414	1107	1	0	0	1	0.000451467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.00896826043251	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs772140604	2.137e-05	3.694e-05	1.829e-05	2.452e-05	2.716e-05	1.516e-05	1.315e-05	1.501e-05	1.261e-05	0	0	0	2.716e-05	6.189e-05	0	2.219e-05	0	2.495e-05	6.569e-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	0.761	0.08067	T	0.914	0.02926	T	0.001	0.09854	B	0.003	0.08700	B	0.086711	0.02411	N	2.271890	1	0.08975	N	0.74	0.18910	N	4.53	0.01980	T	0.4	0.03463	N	0.077	0.13626	-1.0049	0.28487	T	0.050	0.21300	T	10	0.040042162	0.02541	T	0.008968	0.23631	T	0.020	0.03691	0.411	0.44723	0.0401082797425	0.02173	0.10676479208092807	0.10606	0.0225543071928	0.02277	0.354481011629	0.18579	T	6.95E-4	0.00312	T	-0.286365	0.10004	T	-0.64912	0.09016	T	0.034952446496523	0.02800	T	0.320668	0.07246	T	0.020757832	0.00646	0.035932526	0.02939	0.020757832	0.00646	0.035932526	0.02939	-4.121	0.27455	T	.	.	0.085	0.10352	B	.;.	.;.	-1.343557	0.00402	0.008	0.81539247038156815	0.13735	0.01938	0.05902	N	AEFDGBHCI	0.027483	0.02252	N	-1.44708722119642	0.02240	0.09869339	-1.62062004865872	0.01535	0.06952256	0.99999999996226	0.74766	0.660377	0.49826	0	0.611049	0.52481	0	0.696353	0.63694	0	0.664235	0.64389	0	.	.	4.76	-9.06	0.00623	-2.587000	0.00976	-4.301000	0.02229	-1.802000	0.00623	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.2479:0.3466:0.4055:0.0	9.566	0.38561	958	0.09170	.;MAM domain|MAM domain|MAM domain|MAM 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	0.006701	0.000000	0.009722	0.000000	0.000000	0.009091	0.000000	0.018939	0.02632	766.33	40	chr9	136859064	.	G	A	766.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.103;DP=708;ExcessHet=0;FS=1.142;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.66;ReadPosRankSum=1.44;SOR=0.498	GT:AD:DP:GQ:PL	0/1:19,27:46:99:780,0,507	18	0	1	0
chr9	137051106	137051106	G	C	exonic	ENTPD2	.	nonsynonymous SNV	ENTPD2:NM_001246:exon5:c.C570G:p.F190L,ENTPD2:NM_203468:exon5:c.C570G:p.F190L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.00313967710169	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.286	0.15201	T	0.663	0.06448	T	0.001	0.07471	B	0.005	0.11217	B	0.846785	0.08992	N	0.939113	0.999841	0.20103	N	0.78	0.19475	N	2.83	0.10771	T	0.17	0.05706	N	0.275	0.31478	-0.9389	0.42790	T	0.013	0.04890	T	10	0.048255265	0.04253	T	0.00314	0.06845	T	0.023	0.04649	0.441	0.49648	0.18995819373	0.18626	0.5350042482264216	0.53425	0.0667853530577	0.07447	0.438463270664	0.30368	T	0.008	0.07627	T	-0.286229	0.10017	T	-0.648925	0.09030	T	0.0289839916594457	0.01834	T	0.544446	0.18591	T	0.056657955	0.11178	0.04606111	0.06334	0.056657955	0.11177	0.04606111	0.06334	0.996	0.00133	T	.	.	0.464	0.69706	A	.;.	.;.	1.124019	0.15098	11.59	0.94733683833989302	0.25418	0.07771	0.13769	N	AEFGBI	0.105430	0.21066	N	-0.838032510718258	0.12346	0.6012433	-0.743879526100685	0.15872	0.8369661	0.943653466213405	0.27579	0.676563	0.55306	0	0.844039	0.99811	0	0.673471	0.61138	0	0.562822	0.20929	0	.	.	4.25	-0.0034	0.13349	-0.371000	0.07569	1.956000	0.29912	0.676000	0.76740	0.002000	0.15269	1.000000	0.68203	0.985000	0.61073	0.3538:0.0:0.4872:0.1591	4.077	0.09386	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1347.33	35	chr9	137051106	.	G	C	1347.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.07;DP=765;ExcessHet=0;FS=1.652;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.75;ReadPosRankSum=-1.027;SOR=0.509	GT:AD:DP:GQ:PL	0/1:45,53:98:99:1361,0,1107	18	0	1	0
chr9	137252936	137252936	C	A	exonic	STPG3	.	nonsynonymous SNV	STPG3:NM_001004353:exon5:c.C767A:p.S256Y,STPG3:NM_001256699:exon5:c.C767A:p.S256Y,STPG3:NM_001256700:exon5:c.C602A:p.S201Y,STPG3:NM_001256701:exon5:c.C602A:p.S201Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.0671236170057	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.041	0.79402	D	0.999	0.77913	D	0.983	0.75793	D	0.948547	0.07640	N	1.030930	1	0.08975	N	.	.	.	0.35	0.58029	T	-4.46	0.77798	D	0.422	0.46180	-0.8798	0.49778	T	0.263	0.63448	T	10	0.27867687	0.45438	T	0.067124	0.70075	D	0.094	0.27141	.	.	0.640272089493	0.63730	0.556244540301249	0.55551	0.115428939008	0.13013	.	.	.	0.039856	0.34056	T	-0.098365	0.36696	T	-0.379071	0.35832	T	0.94389945268631	0.61951	D	0.651035	0.26688	T	0.27370483	0.50437	0.33011523	0.58884	0.27370483	0.50437	0.33011523	0.58883	-9.043	0.86883	D	.	.	0.200	0.53087	B	.;.;.;.	.;.;.;.	2.481137	0.31997	18.91	0.99157233599329286	0.53987	0.20731	0.21148	N	AEFGBCI	0.145596	0.26885	N	-0.0710615924978839	0.38665	2.268114	-0.255403441089526	0.29585	1.658732	0.999983205244074	0.51787	0.608966	0.35542	0	0.187218	0.04217	2	0.769059	0.98459	0	0.613276	0.41899	0	.	.	3.95	3.02	0.33970	0.668000	0.24808	0.861000	0.22228	0.524000	0.24156	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.0:0.8756:0.0:0.1244	7.587	0.27167	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	.	.	.	.	.	.	.	.	0.02632	457.33	38	chr9	137252936	.	C	A	457.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.476;DP=705;ExcessHet=0;FS=1.177;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.64;ReadPosRankSum=-1.291;SOR=0.829	GT:AD:DP:GQ:PL	0/1:23,20:43:99:471,0,570	18	0	1	0
chr9	137356318	137356318	G	A	exonic	EXD3	.	nonsynonymous SNV	EXD3:NM_017820:exon8:c.C707T:p.A236V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.00469369400096	7.9e-05	0.000199681	0.0003	0	0	0.0017	0	0.0001	0	0.0005	0.0001423	22	154602	rs370748438	0.0001	0.0001	0.0001	0.0001	0.0005	0.0001	0.0001	0.0003	0.0003	6.007e-05	6.911e-05	0	0.0005	1.919e-05	0.0002	0.0001	0.0003	0.0003	8.533e-05	8.529e-05	0.0001	5.37e-05	0.0004	4.952e-05	3.959e-05	6.823e-05	3.339e-05	7.213e-05	0	6.539e-05	0	0.0004	0	0	0.0001	0	0	0.723	0.03892	T	1.0	0.01155	T	0.004	0.12183	B	0.001	0.04355	B	0.693392	0.10156	N	0.820588	1	0.08975	N	-0.315	0.03579	N	0.67	0.52187	T	-0.03	0.07444	N	0.019	0.00279	-1.0041	0.28725	T	0.049	0.20987	T	10	0.017995358	0.00388	T	0.004694	0.11660	T	0.022	0.04323	.	.	0.0297737177859	0.01360	0.14244346294915572	0.14167	0.0529195894233	0.05834	0.387486368418	0.23315	T	6.56E-4	0.00285	T	-0.625318	0.00102	T	-0.747708	0.03575	T	0.017876278941217	0.00514	T	0.252475	0.03851	T	0.021795629	0.00802	0.03835375	0.03684	0.021795629	0.00802	0.03835375	0.03684	-0.601	0.00649	T	.	.	0.061	0.01092	B	.	.	-0.511745	0.01830	0.145	0.11441290579695744	0.00172	0.00048	0.00378	N	AEFDGBI	0.016308	0.00359	N	-1.68304618279356	0.00903	0.03910336	-1.70766408015645	0.01104	0.04960079	0.0113850484304987	0.12176	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	2.65	-2.93	0.05261	-0.953000	0.03987	-2.383000	0.03823	-0.869000	0.02574	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.2476:0.0:0.7524:0.0	11.979	0.52396	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	.	.	.	.	.	.	.	.	0.02632	924.33	36	chr9	137356318	.	G	A	924.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.398;DP=717;ExcessHet=0;FS=0.859;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.85;ReadPosRankSum=-1.085;SOR=0.909	GT:AD:DP:GQ:PL	0/1:39,39:78:99:938,0,881	18	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	.	.	.	.	.	.	.	.	0.4474	3198.86	113	chr10	825249	.	T	C	3198.86	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-3.463;DP=2358;ExcessHet=31.086;FS=172.694;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=60;MQRankSum=0;QD=1.44;ReadPosRankSum=1.83;SOR=12.863	GT:AD:DP:GQ:PL	0/1:109,48:157:99:324,0,1885	2	0	17	0
chr10	15786605	15786605	T	C	exonic	MINDY3	.	nonsynonymous SNV	MINDY3:NM_001318330:exon12:c.A553G:p.I185V,MINDY3:NM_024948:exon13:c.A1072G:p.I358V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	0.00764646248318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.884e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.33585	T	0.144	0.43721	T	0.854	0.47077	P	0.561	0.49582	P	0.000000	0.84330	D	0.046090	0.999998	0.58761	D	.	.	.	1.35	0.34648	T	-0.79	0.21860	N	0.351	0.39254	-0.9547	0.40149	T	0.134	0.44856	T	10	0.33790162	0.50904	T	0.007646	0.20299	T	0.104	0.29647	0.417	0.45709	0.117191471859	0.11215	0.29488749243866924	0.29401	0.110849007013	0.12512	0.790306091309	0.80490	T	0.073	0.34616	T	-0.123486	0.32554	T	-0.415155	0.31631	T	0.655807673931122	0.38713	D	0.927007	0.73102	D	0.16934788	0.37445	0.1360903	0.32565	0.16934788	0.37445	0.1360903	0.32564	-10.573	0.77266	D	.	.	0.133	0.49048	B	.;.	.;.	3.708980	0.52937	23.3	0.99883937248878718	0.95970	0.95907	0.66669	D	AEFBI	0.489796	0.52755	N	0.494721475490579	0.66780	4.994687	0.539890980461801	0.70698	5.543418	0.999999789403579	0.74766	0.732398	0.92422	0	0.666794	0.63253	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.52	5.52	0.82153	4.977000	0.63509	6.200000	0.54880	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.925	0.79395	905	0.23532	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	77.83	34	chr10	15786605	.	T	C	77.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-4.058;DP=1118;ExcessHet=0.119;FS=145.224;InbreedingCoeff=-0.0555;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=0.29;ReadPosRankSum=0.726;SOR=9.558	GT:AD:DP:GQ:PL	0/1:107,38:145:31:31,0,1818	17	0	2	0
chr10	16695157	16695157	-	GG	splicing	RSU1	NM_012425:exon8:c.599-2->CC;NM_152724:exon7:c.440-2->CC	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0.0005	0.0006	0.0030	0.0013	0.0007	0.0015	0.0014	0.0011513	178	154602	rs373104238	0.0009	0.0041	0.0008	0.0009	0.0031	0.0008	0.0008	0.0027	0.0026	0.0008	0.0007	0.0002	0.0027	0.0013	0.0005	0.0006	0.0015	0.0031	0.0020	0.0034	0.0018	0.0021	0.0123	0.0018	0.0017	0.0096	0.0087	0.0016	0	0.0009	0	0.0123	0.0016	0.0038	0.0014	0.0011	0.0094	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	3361.53	39	chr10	16695157	.	T	TGG	3361.53	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.805;DP=2131;ExcessHet=2.9153;FS=4.657;InbreedingCoeff=-0.2258;MLEAC=1;MLEAF=0.026;MQ=59.99;MQRankSum=0;QD=5.2;ReadPosRankSum=0.136;SOR=0.456	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:62,7:72:60:.:.:60,0,3248:.	18	0	1	0
chr10	16877095	16877095	G	A	exonic	CUBN	.	nonsynonymous SNV	CUBN:NM_001081:exon57:c.C8908T:p.R2970C	Megaloblastic anemia-1, Finnish type, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	314783	not_provided|Imerslund-Grasbeck_syndrome_type_1|Proteinuria,_chronic_benign	MedGen:C3661900|MONDO:MONDO:0100156,MedGen:C4016819,OMIM:261100|MONDO:MONDO:0030042,MedGen:C5394384,OMIM:618884	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.293	0.0182149988571	.	0.000599042	7.855e-05	0	0	0	0	1.773e-05	0	0.0005	7.12e-05	11	154602	rs562374248	3.286e-05	3.283e-05	2.997e-05	3.579e-05	0.0004	2.545e-05	2.251e-05	0.0003	0.0002	0	4.488e-05	0	0	0	0	9.897e-06	4.972e-05	0.0004	2.628e-05	2.625e-05	1.285e-05	4.031e-05	0.0006	8.14e-06	5.14e-06	0.0002	9e-05	0	0	0	0	0	0	0	1.47e-05	0	0.0006	0.016	0.51853	D	0.008	0.67890	D	0.999	0.77913	D	0.761	0.56482	P	0.041085	0.23987	N	0.303958	0.976139	0.39249	D	2.24	0.63355	M	2.18	0.18875	T	-2.61	0.56144	D	0.489	0.52297	-1.1467	0.01127	T	0.080	0.31795	T	10	0.18664667	0.34139	T	0.018215	0.40210	T	0.293	0.61272	.	.	0.648041160416	0.64512	0.5239698212737309	0.52320	0.490506327455	0.47770	0.268442034721	0.05939	T	0.200655	0.55831	T	-0.300506	0.08612	T	-0.326702	0.41834	T	0.527500152587891	0.33642	D	0.838916	0.51225	T	0.2585573	0.48905	0.1815306	0.41023	0.2585573	0.48905	0.1815306	0.41022	-7.479	0.57463	T	0.7892728031310032	0.86797	0.22	0.45061	B	.	.	4.558150	0.71801	25.7	0.99895481663157604	0.96819	0.90708	0.52111	D	AEFBCI	0.610009	0.59899	D	0.534531285645599	0.69147	5.315811	0.522276709083507	0.69492	5.368054	0.99250569114194	0.32863	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.664235	0.64389	0	.	.	5.91	5.91	0.95240	5.768000	0.68510	11.713000	0.94685	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.031000	0.13245	0.0829:0.0:0.9171:0.0	11.102	0.47403	900	0.24599	CUB domain|CUB domain|CUB domain|CUB domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1217.33	34	chr10	16877095	.	G	A	1217.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.563;DP=721;ExcessHet=0;FS=2.643;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.73;ReadPosRankSum=0.336;SOR=0.368	GT:AD:DP:GQ:PL	0/1:23,42:65:99:1231,0,646	18	0	1	0
chr10	27186516	27186516	G	A	exonic	MASTL	.	nonsynonymous SNV	MASTL:NM_001172304:exon11:c.G2503A:p.V835I,MASTL:NM_001172303:exon12:c.G2620A:p.V874I,MASTL:NM_032844:exon12:c.G2617A:p.V873I,MASTL:NM_001320756:exon13:c.G2632A:p.V878I,MASTL:NM_001320757:exon13:c.G2635A:p.V879I,MASTL:NM_001372030:exon13:c.G2137A:p.V713I,MASTL:NM_001372029:exon14:c.G2152A:p.V718I	.	0	1473	47	2	0	51	0.017017	.	.	.	712315	Thrombocytopenia_2|Thrombocytopenia|not_provided	MONDO:MONDO:0008555,MedGen:C1861185,OMIM:188000,Orphanet:268322|Human_Phenotype_Ontology:HP:0001873,Human_Phenotype_Ontology:HP:0001906,Human_Phenotype_Ontology:HP:0004838,Human_Phenotype_Ontology:HP:0008175,Human_Phenotype_Ontology:HP:0008268,Human_Phenotype_Ontology:HP:0008302,MONDO:MONDO:0002049,MeSH:D013921,MedGen:C0040034|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.078	0.00997056963759	0.0037	0.00139776	0.0044	0.0013	0.0016	0.0001	0.0002	0.0055	0.0077	0.0075	0.0040491	626	154602	rs138288481	0.0048	0.0048	0.0048	0.0049	0.0072	0.0047	0.0047	0.0067	0.0065	0.0012	0.0019	0.0121	2.52e-05	0.0002	0.0061	0.0050	0.0058	0.0072	0.0036	0.0036	0.0036	0.0035	0.0077	0.0033	0.0032	0.0057	0.0050	0.0011	0.0022	0.0033	0.0136	0	0.0004	0.0102	0.0051	0.0028	0.0077	0.203	0.20154	T	0.171	0.30339	T	0.011	0.20130	B	0.016	0.20792	B	0.000006	0.62929	N	0.106801	0.996275	0.45878	D	1.53	0.38800	L	-0.28	0.67543	T	-0.34	0.13805	N	0.061	0.08366	-0.9986	0.30311	T	0.126	0.43112	T	10	0.0049705505	0.00107	T	0.009971	0.25946	T	0.078	0.22779	.	.	0.371531589858	0.36766	0.1272268554561651	0.12648	0.0910169347132	0.10278	0.316755950451	0.12930	T	0.006687	0.06116	T	-0.498078	0.00586	T	-0.483104	0.24118	T	0.00412092111472847	0.00044	T	0.812919	0.48860	T	0.019913116	0.00533	0.0360601	0.02977	0.019913116	0.00532	0.0360601	0.02977	-5.82	0.52231	T	.	.	0.073	0.07697	B	.;.;.;.	.;.;.;.	1.094405	0.14780	11.32	0.95402752632936616	0.26857	0.91252	0.53159	D	AEFBI	0.103222	0.20687	N	-0.449366988897339	0.23761	1.278292	-0.341345716934986	0.26776	1.481296	0.146633193900005	0.17370	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.63	2.79	0.31792	2.239000	0.42728	0.193000	0.15765	0.656000	0.54149	0.995000	0.38783	0.001000	0.17328	0.935000	0.47363	0.2174:0.0:0.7826:0.0	10.103	0.41688	804	0.43891	.;AGC-kinase, C-terminal;.;AGC-kinase, 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	0	0	1	0	0.007553	0.000000	0.009511	0.005848	0.000000	0.008621	0.006098	0.011364	0.02632	1630.33	35	chr10	27186516	.	G	A	1630.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.62;DP=1242;ExcessHet=0;FS=3.87;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.02;ReadPosRankSum=-0.354;SOR=0.453	GT:AD:DP:GQ:PL	0/1:81,67:148:99:1644,0,1878	18	0	1	0
chr10	42793891	42793891	A	C	exonic	BMS1	.	nonsynonymous SNV	BMS1:NM_014753:exon9:c.A1129C:p.I377L	.	550	968	4	0	0	4	0.00206186	.	.	.	2367670	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.185	0.00828823382652	0.0002	.	0.0005	0	0.0010	0	0	0.0005	0.0011	0.0005	0.0003558	55	154602	rs199913378	0.0004	0.0004	0.0003	0.0004	0.0031	0.0003	0.0003	0.0019	0.0015	0.0001	0.0009	0.0026	0	9.36e-05	0.0031	0.0003	0.0006	0.0005	0.0004	0.0004	0.0004	0.0003	0.0010	0.0003	0.0003	0.0007	0.0005	0.0001	0	0.0010	0.0029	0	0	0	0.0004	0.0014	0.0002	0.543	0.06735	T	0.2	0.27591	T	0.72	0.42342	P	0.345	0.42592	B	0.000000	0.84330	D	0.000000	0.999973	0.53665	D	2.52	0.73523	M	3.13	0.08014	T	-0.96	0.25551	N	0.447	0.48504	-1.0670	0.10085	T	0.030	0.12760	T	10	0.04001993	0.02537	T	0.008288	0.21954	T	0.185	0.45933	.	.	0.473932634616	0.47021	0.23066799459833928	0.22981	0.196573779005	0.22022	0.668484628201	0.62621	T	0.018726	0.15043	T	-0.362961	0.03965	T	-0.369558	0.36940	T	0.619019210338593	0.37165	D	0.848015	0.52922	T	0.19749665	0.41617	0.16102046	0.37476	0.19749665	0.41616	0.16102046	0.37475	-10.233	0.75294	D	.	.	0.142	0.31203	B	.	.	2.773347	0.36409	20.2	0.98297845438387332	0.40011	0.99480	0.96546	D	AEFBI	0.843484	0.76051	D	0.36161753080237	0.59357	4.114285	0.452523495241008	0.64880	4.753597	0.999931430211922	0.46732	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.6	5.6	0.84997	8.737000	0.91261	.	.	0.745000	0.86679	1.000000	0.71638	1.000000	0.68203	0.264000	0.23619	1.0:0.0:0.0:0.0	15.937	0.79505	867	0.32089	.	.	.	.	.	.	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	0.002415	0.000000	0.005479	0.000000	0.000000	0.000000	0.000000	0.000000	0.05263	2607.83	35	chr10	42793891	.	A	C	2607.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.829;DP=808;ExcessHet=0.119;FS=2.476;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=59.97;MQRankSum=1.06;QD=13.44;ReadPosRankSum=-0.25;SOR=0.529	GT:AD:DP:GQ:PL	0/1:54,59:113:99:1420,0,1347	17	0	2	0
chr10	47503387	47503387	T	C	exonic	AGAP9	.	nonsynonymous SNV	AGAP9:NM_001190810:exon8:c.A742G:p.M248V	.	434	1065	23	0	0	23	0.0106828	.	.	.	2813128	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	0.0016	0.0021	0	0	0	0.0020	0	0	0.0002689	7	26028	rs199638710	0.0001	0.0009	8.468e-05	0.0002	0.0007	0.0001	0.0001	0.0005	0.0005	6.036e-05	6.717e-05	0.0009	0	0	0.0007	7.123e-05	0.0002	0.0007	9.451e-05	0.0002	5.273e-05	0.0001	0.0009	5.673e-05	4.479e-05	0.0003	0.0002	0.0001	0	0	0.0006	0	0	0	4.436e-05	0	0.0009	0.132	0.26519	T	0.238	0.24549	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.91	0.44856	T	-1.24	0.31375	N	0.086	0.06322	.	.	.	.	.	.	.	0.00929603	0.00210	T	.	.	.	.	.	.	.	0.354610295913	0.35065	0.02193780874142853	0.02145	.	.	.	.	.	.	.	.	-0.299579	0.08699	T	-0.196136	0.55012	T	.	.	.	0.675032	0.28342	T	.	.	.	.	.	.	.	.	-3.695	0.19244	T	.	.	0.068	0.02797	B	.	.	1.062155	0.14442	11.01	0.6049860810602804	0.06478	0.49735	0.28501	N	AEFI	.	.	.	.	.	.	.	.	.	6.47738046360823E-5	0.04366	0.294411	0.05044	0	0.195528	0.04277	0	0.277913	0.05378	0	0.101684	0.03063	0	0.588178	0.40606	0.109	0.109	0.13884	1.905000	0.39508	0.541000	0.19334	-1.309000	0.01237	1.000000	0.71638	0.136000	0.23046	0.085000	0.17524	0.0:4.0E-4:0.0:0.9996	4.622	0.11842	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05263	1206.83	33	chr10	47503387	.	T	C	1206.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-4.265;DP=1319;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=31.25;MQRankSum=-1.916;QD=2.41;ReadPosRankSum=2.4;SOR=0.668	GT:AD:DP:GQ:PL	0/1:196,64:260:99:913,0,4736	17	0	2	0
chr10	47503517	47503517	T	G	exonic	AGAP9	.	nonsynonymous SNV	AGAP9:NM_001190810:exon8:c.A612C:p.K204N	.	438	1080	4	0	0	4	0.00184843	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0019	0	0.0071	0	0	0.0026	0	0	.	.	.	rs1173461793	7.4e-05	0.0002	5.18e-05	9.643e-05	0.0007	6.258e-05	5.816e-05	0.0005	0.0005	0	4.484e-05	0	0	9.381e-05	0	3.78e-05	3.317e-05	0.0007	6.182e-05	7.253e-05	6.68e-05	5.654e-05	0.0002	3.203e-05	2.401e-05	4.819e-05	3.374e-05	0	0	6.848e-05	0	0	0	0	0.0001	0	0.0002	0.459	0.08762	T	0.553	0.09329	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.74	0.11730	T	-0.79	0.21860	N	0.094	0.07398	.	.	.	.	.	.	.	0.0052042603	0.00113	T	.	.	.	.	.	.	.	0.159798565429	0.15598	0.0035491949411939647	0.00331	.	.	.	.	.	.	.	.	-0.0515163	0.44216	T	-0.311776	0.43467	T	.	.	.	0.607439	0.22904	T	.	.	.	.	.	.	.	.	-3.565	0.17353	T	.	.	0.147	0.32372	B	.	.	0.585376	0.09539	6.315	0.14660683202980249	0.00331	0.01719	0.05448	N	AEFI	.	.	.	.	.	.	.	.	.	3.63124987450781E-6	0.01202	0.164513	0.03853	0	0.195528	0.04277	0	0.078618	0.02440	0	0.101684	0.03063	0	0.0852691	0.19417	0.109	-0.218	0.12495	-0.200000	0.09480	-10.652000	0.00679	0.142000	0.17677	0.998000	0.41325	0.000000	0.08366	0.005000	0.06747	0.0:0.3273:0.3353:0.3374	2.177	0.03628	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	212.33	37	chr10	47503517	.	T	G	212.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.262;DP=811;ExcessHet=0;FS=0.954;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=31.25;MQRankSum=-1.003;QD=1.62;ReadPosRankSum=-1.98;SOR=0.858	GT:AD:DP:GQ:PL	0/1:109,22:131:99:226,0,2777	18	0	1	0
chr10	72196816	72196816	A	T	exonic	ASCC1	.	nonsynonymous SNV	ASCC1:NM_001198798:exon5:c.T484A:p.S162T,ASCC1:NM_001198800:exon5:c.T484A:p.S162T,ASCC1:NM_001369085:exon5:c.T550A:p.S184T,ASCC1:NM_001369086:exon5:c.T550A:p.S184T,ASCC1:NM_001369087:exon5:c.T484A:p.S162T,ASCC1:NM_001369088:exon5:c.T484A:p.S162T,ASCC1:NM_001369089:exon5:c.T484A:p.S162T,ASCC1:NM_001369090:exon5:c.T484A:p.S162T,ASCC1:NM_001369091:exon5:c.T484A:p.S162T,ASCC1:NM_001369092:exon5:c.T484A:p.S162T,ASCC1:NM_001369093:exon5:c.T484A:p.S162T,ASCC1:NM_001369094:exon5:c.T484A:p.S162T,ASCC1:NM_001369095:exon5:c.T484A:p.S162T,ASCC1:NM_001369096:exon5:c.T484A:p.S162T,ASCC1:NM_001369097:exon5:c.T484A:p.S162T,ASCC1:NM_001369098:exon5:c.T484A:p.S162T,ASCC1:NM_001369099:exon5:c.T550A:p.S184T,ASCC1:NM_001369100:exon5:c.T484A:p.S162T,ASCC1:NM_001369103:exon5:c.T484A:p.S162T,ASCC1:NM_001369104:exon5:c.T484A:p.S162T,ASCC1:NM_001369108:exon5:c.T484A:p.S162T,ASCC1:NM_001369109:exon5:c.T484A:p.S162T,ASCC1:NM_001369110:exon5:c.T484A:p.S162T,ASCC1:NM_001369111:exon5:c.T484A:p.S162T,ASCC1:NM_001369112:exon5:c.T484A:p.S162T,ASCC1:NM_001198799:exon6:c.T568A:p.S190T,ASCC1:NM_001369101:exon6:c.T367A:p.S123T,ASCC1:NM_001369102:exon6:c.T367A:p.S123T,ASCC1:NM_001369105:exon6:c.T367A:p.S123T,ASCC1:NM_001369106:exon6:c.T367A:p.S123T,ASCC1:NM_001369107:exon6:c.T367A:p.S123T	Barrett esophagus/esophageal adenocarcinoma	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.253	0.0192063825535	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	0.91255	T	0.353	0.92824	T	0.996	0.68779	D	0.965	0.71173	D	0.000004	0.62929	D	0.109027	0.999999	0.58761	D	2.91	0.84121	M	-0.13	0.64818	T	-2.03	0.47514	N	0.555	0.58629	-0.3277	0.74200	T	0.424	0.76790	T	10	0.43115038	0.57498	T	0.019206	0.41510	T	0.253	0.56294	0.289	0.24921	0.775281117856	0.77321	0.6428091940824322	0.64215	0.439809500087	0.43999	0.49861818552	0.38635	T	0.007474	0.21248	T	0.0838665	0.62491	D	-0.117308	0.62022	T	0.919638752937317	0.57843	D	0.886911	0.61653	D	0.39339018	0.60272	0.39103135	0.63883	0.39339018	0.60272	0.39103135	0.63883	-5.687	0.48983	T	0.3399146051307289	0.43769	0.169	0.37121	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.825180	0.55259	23.6	0.99302904287476113	0.58686	0.99236	0.93238	D	AEFDBI	0.902180	0.84975	D	0.697837695616311	0.79491	7.08872	0.688004120202229	0.81467	7.533573	0.999999840346578	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.74	5.74	0.90070	8.582000	0.90577	8.932000	0.78411	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.901000	0.43729	1.0:0.0:0.0:0.0	16.331	0.82842	661	0.61838	Protein kinase A anchor protein, nuclear localisation signal domain;Protein kinase A anchor protein, nuclear localisation signal domain;Protein kinase A anchor protein, nuclear localisation signal domain;Protein kinase A anchor protein, nuclear localisation signal domain;Protein kinase A anchor protein, nuclear localisation signal domain;Protein kinase A anchor protein, nuclear localisation signal 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	.	.	.	.	.	.	.	.	0.02632	1322.33	43	chr10	72196816	.	A	T	1322.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.312;DP=773;ExcessHet=0;FS=0.7;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.11;ReadPosRankSum=0.896;SOR=0.809	GT:AD:DP:GQ:PL	0/1:60,59:119:99:1336,0,1517	18	0	1	0
chr10	73428248	73428248	G	C	exonic	MSS51	.	nonsynonymous SNV	MSS51:NM_001024593:exon2:c.C37G:p.P13A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.00429441812126	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.185	0.21550	T	0.227	0.25362	T	0.02	0.18235	B	0.016	0.17743	B	0.808768	0.09267	N	0.907323	0.999992	0.08975	N	1.265	0.31966	L	0.93	0.44065	T	0.06	0.06253	N	0.203	0.22614	-1.0116	0.26416	T	0.075	0.30179	T	10	0.045121074	0.03546	T	0.004294	0.10404	T	0.012	0.01476	0.253	0.19223	0.202949470691	0.19918	0.25802454014866605	0.25716	0.115067041144	0.12980	0.247937843204	0.03554	T	4.47E-4	0.00152	T	-0.287672	0.09871	T	-0.650998	0.08885	T	0.0559113237793929	0.06509	T	0.612239	0.23293	T	0.032608062	0.03319	0.029849017	0.01368	0.032608062	0.03319	0.029849017	0.01368	-3.299	0.13724	T	.	.	0.060	0.01059	B	.;.	.;.	0.540929	0.09093	5.878	0.57972464420546976	0.05888	0.17893	0.20032	N	AEFBI	0.046171	0.07636	N	-0.925702353163552	0.10244	0.4885797	-0.973330088820512	0.10387	0.5227955	6.42020289937291E-5	0.04366	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.491896	0.07777	0	.	.	4.41	-0.521	0.11336	0.104000	0.15148	-0.155000	0.11380	-0.106000	0.15538	0.298000	0.25306	0.000000	0.08366	0.114000	0.18915	0.487:0.0:0.513:0.0	7.301	0.25593	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	0	0	.	.	.	.	.	.	.	.	0.05556	149.66	57	chr10	73428248	.	G	C	149.66	.	AC=2;AF=0.056;AN=36;BaseQRankSum=-1.016;DP=806;ExcessHet=0.119;FS=49.14;InbreedingCoeff=-0.073;MLEAC=2;MLEAF=0.056;MQ=60;MQRankSum=0;QD=1.5;ReadPosRankSum=0.557;SOR=5.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:38,16:54:99:0|1:73428248_G_C:103,0,725:73428248	16	0	2	1
chr10	74670220	74670220	C	G	exonic	ADK	.	nonsynonymous SNV	ADK:NM_001202449:exon9:c.C810G:p.D270E,ADK:NM_001202450:exon9:c.C744G:p.D248E,ADK:NM_001369123:exon9:c.C800G:p.T267S,ADK:NM_001369124:exon9:c.C693G:p.D231E,ADK:NM_001123:exon10:c.C864G:p.D288E,ADK:NM_006721:exon10:c.C915G:p.D305E	Hypermethioninemia due to adenosine kinase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	1431354	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.248	0.0249494880517	.	.	1.654e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs760003028	1.71e-05	1.779e-05	1.634e-05	1.788e-05	0.0002	1.174e-05	9.92e-06	5.396e-05	4.042e-05	0	0	0	0	0	0.0002	1.259e-05	1.656e-05	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.388	0.18757	T	0.924	0.02835	T	0.0	0.02946	B	0.001	0.04355	B	0.000273	0.46590	D	0.242783	0.996958	0.46670	D	1.615	0.41426	L	-2.29	0.87591	D	-0.77	0.21429	N	0.25	0.33469	-0.5861	0.65376	T	0.432	0.77361	T	10	0.21503899	0.38045	T	0.024949	0.47933	T	0.248	0.55615	0.356	0.35734	0.879882798172	0.87871	0.31801584842255415	0.31714	0.258549429352	0.28413	0.387214004993	0.23276	T	0.554571	0.84979	D	-0.166387	0.25784	T	-0.274126	0.47401	T	0.157275453209877	0.17667	T	0.754325	0.37774	T	0.1868807	0.40117	0.12298249	0.29659	0.1868807	0.40117	0.12298249	0.29658	-4.533	0.35237	T	.	.	0.154	0.34138	B	.;.;.;.	.;.;.;.	2.703669	0.35325	19.87	0.98734035089830052	0.45393	0.91591	0.53849	D	AEFI	0.616746	0.60319	D	-0.183641449209828	0.33816	1.922829	0.0207486592609357	0.40679	2.431637	0.723750856084448	0.22963	0.706298	0.61202	0	0.709663	0.81188	0	0.644132	0.48003	0	0.613276	0.41899	0	.	.	5.79	4.88	0.63131	1.698000	0.37413	2.783000	0.34747	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.8188:0.0:0.1812	8.580	0.32781	229	0.91079	.;Carbohydrate kinase PfkB;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1423.33	35	chr10	74670220	.	C	G	1423.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.35;DP=733;ExcessHet=0;FS=0.801;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.47;ReadPosRankSum=0.612;SOR=0.841	GT:AD:DP:GQ:PL	0/1:36,56:92:99:1437,0,768	18	0	1	0
chr10	86517700	86517700	C	A	exonic	WAPL	.	nonsynonymous SNV	WAPL:NM_001318328:exon2:c.G370T:p.V124F,WAPL:NM_015045:exon2:c.G370T:p.V124F	.	437	607	381	87	10	565	0.313737	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.00710336334223	.	0.000599042	0.0012	0	0.0051	0	0	0.0009	0.0044	0.0014	0.0010414	161	154602	rs10887621	0.0006	0.0006	0.0006	0.0007	0.0061	0.0006	0.0006	0.0045	0.0039	8.961e-05	0.0026	0.0010	0	0	0.0061	0.0005	0.0010	0.0013	0.0006	0.0006	0.0006	0.0005	0.0023	0.0005	0.0004	0.0013	0.0010	2.407e-05	0	0.0008	0.0012	0.0002	0	0.0034	0.0007	0.0019	0.0023	0.032	0.44694	D	0.358	0.17064	T	0.031	0.20130	B	0.016	0.17743	B	0.523732	0.11713	N	0.771843	0.999889	0.19853	P	0	0.06538	N	1.94	0.22678	T	-0.45	0.14782	N	0.106	0.09066	-1.0286	0.20908	T	0.029	0.12497	T	9	0.0048210025	0.00102	T	0.007103	0.18814	T	0.033	0.08068	.	.	0.043077524339	0.03247	0.20781201590510412	0.20697	0.234316678385	0.25967	0.264722645283	0.05466	T	0.079308	0.36097	T	-0.54318	0.00321	T	-0.557943	0.16570	T	0.0102015832365525	0.00138	T	0.689031	0.29821	T	0.076243564	0.17231	0.06513849	0.13157	0.076243564	0.17231	0.06513849	0.13157	-4.855	0.35225	T	.	.	0.077	0.07036	B	.;.	.;.	1.230068	0.16246	12.42	0.97331450756619264	0.33428	0.92018	0.54763	D	AEFDBI	0.210395	0.33629	N	-0.611769057180589	0.18590	0.9663508	-0.523635728070582	0.21512	1.164076	0.999950839830408	0.48110	0.706548	0.73137	0	0.581341	0.33841	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.57	1.12	0.19700	1.520000	0.35506	0.012000	0.13456	0.599000	0.40250	0.944000	0.32806	0.003000	0.18671	0.789000	0.37270	0.0:0.5265:0.0:0.4735	10.075	0.41526	892	0.26670	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	21904.0	156	chr10	86517700	.	C	A	21904.0	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.63;DP=1816;ExcessHet=4.0818;FS=0;InbreedingCoeff=-0.2179;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.79;ReadPosRankSum=0.676;SOR=0.722	GT:AD:DP:GQ:PL	0/1:59,72:131:99:1872,0,1416	18	0	1	0
chr10	87366191	87366191	C	T	exonic	NUTM2D	.	nonsynonymous SNV	NUTM2D:NM_001382304:exon7:c.C1688T:p.A563V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.00162915554247	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs1342539754	0.0003	0.0003	0.0003	0.0003	0.0012	0.0003	0.0002	0.0009	0.0008	3.032e-05	0.0012	0.0002	0	0	0.0012	0.0002	0.0006	0.0009	0.0003	0.0003	0.0003	0.0002	0.0012	0.0002	0.0002	0.0005	0.0004	2.408e-05	0	0.0004	0.0006	0.0002	0	0	0.0003	0.0005	0.0012	0.021	0.49117	D	0.036	0.52060	D	0.999	0.77913	D	0.996	0.84481	D	0.460012	0.04864	N	1.338220	1	0.08975	N	.	.	.	2.61	0.13095	T	-1.54	0.37375	N	0.114	0.10198	-1.0546	0.13145	T	0.076	0.30645	T	9	0.058535308	0.06896	T	0.001629	0.02651	T	0.036	0.09122	0.195	0.10705	0.104622674875	0.10061	0.03356196647397593	0.03304	.	.	0.489005476236	0.37300	T	0.006224	0.05657	T	-0.530893	0.00379	T	-0.575901	0.14912	T	0.0247741149562659	0.01243	T	0.633837	0.24812	T	0.05832363	0.11719	0.05471833	0.09465	0.05832363	0.11718	0.05471833	0.09464	-4.808	0.34685	T	.	.	0.113	0.22135	B	.	.	1.342709	0.17492	13.20	0.98649007416547863	0.44164	0.00285	0.01534	N	AEFI	0.032504	0.03686	N	-0.476410358616523	0.22855	1.223322	-0.796127969492663	0.14590	0.7631096	1.1011291573608E-6	0.01202	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	0.919	-0.0866	0.13015	0.139000	0.15858	-1.127000	0.06250	0.216000	0.18031	0.000000	0.06391	0.000000	0.08366	0.022000	0.11911	0.0:0.6539:0.0:0.3461	3.079	0.05878	681	0.59854	Nuclear Testis  protein, 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	.	.	.	.	.	.	.	.	0.02632	679.33	160	chr10	87366191	.	C	T	679.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.016;DP=991;ExcessHet=0;FS=5.619;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=35.14;MQRankSum=-2.24;QD=3.58;ReadPosRankSum=0.003;SOR=0.371	GT:AD:DP:GQ:PL	0/1:147,43:190:99:693,0,3787	18	0	1	0
chr10	88726796	88726796	G	A	exonic	LIPK	.	nonsynonymous SNV	LIPK:NM_001080518:exon3:c.G107A:p.S36N,LIPK:NM_001378091:exon4:c.G107A:p.S36N	.	437	1084	1	0	0	1	0.000461042	0.9850	0.866	.	3211145	LIPK-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.423	0.0428262114877	0.0031	0.00139776	0.0040	0.0012	0.0024	0	0.0012	0.0063	0.0020	0.0021	0.0023221	359	154602	rs55788049	0.0033	0.0033	0.0033	0.0032	0.0038	0.0032	0.0031	0.0037	0.0037	0.0008	0.0010	0.0027	0	0.0010	0.0005	0.0038	0.0028	0.0019	0.0023	0.0023	0.0025	0.0021	0.0035	0.0021	0.0020	0.0032	0.0030	0.0005	0.0407	0.0017	0.0006	0	0.0010	0	0.0035	0.0038	0.0010	0.026	0.46910	D	0.017	0.60337	D	0.965	0.56013	D	0.796	0.58006	P	.	.	.	.	0.52164	0.31564	N	2.39	0.68882	M	-2.09	0.86077	D	-2.61	0.56144	D	0.281	0.31814	0.722	0.93443	D	0.776	0.92374	D	9	0.01268819	0.00272	T	0.042826	0.60666	D	0.423	0.73152	.	.	0.921748760112	0.92095	0.5995292426952856	0.59883	0.0298240976296	0.03070	0.502893149853	0.39231	T	0.016143	0.13402	T	-0.320338	0.06869	T	-0.227793	0.51984	T	0.031954438638417	0.02299	T	0.782722	0.41876	T	0.30203217	0.53086	0.3622778	0.61636	0.30203217	0.53086	0.3622778	0.61636	-10.106	0.74544	D	.	.	0.262	0.49702	B	.	.	4.614670	0.73217	26.0	0.99425985539533457	0.64032	0.90146	0.51096	D	AEFBI	0.424434	0.48961	N	0.649399582225773	0.76329	6.466546	0.600303123472036	0.74962	6.227231	0.0327655252735208	0.14071	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.2	5.2	0.71720	3.152000	0.50375	7.311000	0.58126	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.888000	0.42677	0.0:0.0:1.0:0.0	16.116	0.81115	808	0.43318	.	.	.	.	.	.	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	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1209.33	36	chr10	88726796	.	G	A	1209.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.311;DP=701;ExcessHet=0;FS=3.185;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.71;ReadPosRankSum=1.97;SOR=0.378	GT:AD:DP:GQ:PL	0/1:33,44:77:99:1223,0,844	18	0	1	0
chr10	89418032	89418032	T	A	exonic	IFIT5	.	nonsynonymous SNV	IFIT5:NM_012420:exon2:c.T833A:p.V278E	.	433	1086	3	0	0	3	0.00137931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.218	0.033587706696	.	0.000199681	0.0003	0	0	0	0	0	0	0.0022	0.0002458	38	154602	rs534834408	0.0001	0.0001	6.262e-05	0.0002	0.0021	0.0001	0.0001	0.0018	0.0017	0	0	0	0	0	0	1.799e-06	4.967e-05	0.0021	1.97e-05	1.969e-05	0	4.03e-05	0.0006	5.24e-06	2.45e-06	0.0002	9.007e-05	0	0	0	0	0	0	0	0	0	0.0006	0.331	0.13088	T	0.36	0.16964	T	0.014	0.16867	B	0.033	0.22329	B	0.561926	0.11327	N	0.802457	1	0.08975	N	-1.445	0.00556	N	0.61	0.53516	T	-1.21	0.30762	N	0.325	0.36569	-0.7844	0.56053	T	0.207	0.56608	T	10	0.0081394315	0.00185	T	0.033588	0.55087	D	0.218	0.51265	0.491	0.57732	0.21737058555	0.21362	0.31195736443662847	0.31108	0.396434436232	0.40755	0.290465980768	0.08990	T	0.009381	0.08542	T	-0.493532	0.00622	T	-0.488964	0.23499	T	0.0245864509019198	0.01219	T	0.00832417	0.00038	T	0.26892576	0.49965	0.15974712	0.37241	0.26892576	0.49964	0.15974712	0.37241	-3.966	0.23293	T	.	.	0.117	0.23605	B	.	.	2.009752	0.25536	16.80	0.61955694117289672	0.06839	0.05105	0.10907	N	AEFDGBI	0.065625	0.12810	N	-1.57109554148217	0.01415	0.06170418	-1.54952213825468	0.01979	0.09040263	0.999999388646053	0.74766	0.608746	0.35421	0	0.627608	0.54475	0	0.667671	0.60360	0	0.586402	0.36253	0	.	.	5.79	-8.12	0.00949	0.343000	0.19686	-1.926000	0.04485	-0.133000	0.13014	0.001000	0.13787	0.000000	0.08366	0.932000	0.46971	0.0913:0.4441:0.0:0.4646	9.993	0.41057	875	0.30485	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	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2492.33	33	chr10	89418032	.	T	A	2492.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.729;DP=882;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.98;ReadPosRankSum=1.14;SOR=0.652	GT:AD:DP:GQ:PL	0/1:96,96:192:99:2506,0,2529	18	0	1	0
chr10	89738578	89738580	AAG	-	exonic	KIF20B	.	nonframeshift deletion	KIF20B:NM_001382506:exon19:c.3524_3526del:p.E1180del,KIF20B:NM_001284259:exon20:c.3737_3739del:p.E1251del,KIF20B:NM_016195:exon20:c.3617_3619del:p.E1211del	.	462	1058	2	0	0	2	0.000944287	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0131	0.0129792	0.0049	0.0316	0.0027	0.0020	0.0002	0.0017	0.0024	0.0080	0.0006531	17	26028	rs149688226	0.0014	0.0099	0.0014	0.0014	0.0310	0.0013	0.0013	0.0294	0.0287	0.0310	0.0022	0.0002	0.0003	0.0001	0.0017	0.0004	0.0020	0.0048	0.0086	0.0087	0.0085	0.0086	0.0298	0.0082	0.0080	0.0284	0.0278	0.0298	0	0.0016	0	0.0004	9.439e-05	0.0102	7.365e-05	0.0062	0.0037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1087.29	41	chr10	89738577	.	AAAG	A	1087.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.27;DP=771;ExcessHet=0;FS=2.597;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=20.51;ReadPosRankSum=0.25;SOR=1.286	GT:AD:DP:GQ:PL	0/1:25,28:53:99:1101,0,961	18	0	1	0
chr10	94293583	94293583	A	G	exonic	PLCE1	.	nonsynonymous SNV	PLCE1:NM_001165979:exon22:c.A4187G:p.N1396S,PLCE1:NM_001288989:exon23:c.A5063G:p.N1688S,PLCE1:NM_016341:exon23:c.A5111G:p.N1704S	Nephrotic syndrome, type 3, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1640828	Nephrotic_syndrome,_type_3|not_provided	MONDO:MONDO:0012546,MedGen:C1853124,OMIM:610725,Orphanet:656|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.082	0.00699535785762	0.0003	.	0.0002	0	0	0	0.0005	0.0003	0	0.0001	0.0001811	28	154602	rs201633028	0.0004	0.0004	0.0004	0.0003	0.0004	0.0003	0.0003	0.0004	0.0004	5.975e-05	4.472e-05	0	0	0.0003	0	0.0004	0.0003	0.0001	0.0002	0.0002	0.0002	0.0002	0.0004	0.0002	0.0001	0.0003	0.0002	7.234e-05	0	0	0	0	0.0003	0	0.0004	0	0.0002	0.265	0.16305	T	0.195	0.28032	T	0.539	0.37887	P	0.135	0.33210	B	0.000035	0.55875	D	0.125415	0.958033	0.38553	D	1.525	0.38595	L	1.91	0.23283	T	-0.27	0.13805	N	0.168	0.18239	-1.0421	0.16681	T	0.031	0.13286	T	10	0.062467158	0.07990	T	0.006995	0.18513	T	0.082	0.23913	.	.	0.652799619513	0.64990	0.2476217492337039	0.24676	0.517718159117	0.49631	0.570874929428	0.48802	T	0.067278	0.33160	T	-0.505547	0.00532	T	-0.653441	0.08715	T	0.072564998300215	0.09006	T	0.90231	0.65919	D	0.061110564	0.12618	0.08893515	0.20766	0.06385929	0.13491	0.08798279	0.20485	-2.171	0.03902	T	0.21676335934319466	0.29163	0.075	0.05668	B	.;.;.	.;.;.	3.747914	0.53711	23.4	0.9907301376432025	0.51762	0.90514	0.51753	D	AEFDBIJ	0.595067	0.58976	D	-0.0640082747559654	0.38979	2.291396	0.107169726257229	0.44914	2.764066	0.999814552548736	0.43459	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.525792	0.08840	0	.	.	5.45	4.31	0.50718	4.104000	0.57524	9.416000	0.80730	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.9245:0.0:0.0755:0.0	10.774	0.45540	372	0.84213	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1156.33	34	chr10	94293583	.	A	G	1156.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.502;DP=741;ExcessHet=0;FS=0.749;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.34;ReadPosRankSum=1.06;SOR=0.551	GT:AD:DP:GQ:PL	0/1:51,51:102:99:1170,0,1145	18	0	1	0
chr10	100924899	100924899	A	G	exonic	SLF2	.	nonsynonymous SNV	SLF2:NM_001136123:exon5:c.A1898G:p.N633S,SLF2:NM_018121:exon5:c.A1898G:p.N633S	.	430	1086	6	0	0	6	0.00275482	.	.	.	2809545	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.041	.	0.0018	0.00179712	0.0038	0.0010	0.0010	0	0.0239	0.0039	0.0023	0.0012	0.0035511	549	154602	rs35532139	0.0036	0.0036	0.0038	0.0035	0.0043	0.0035	0.0035	0.0031	0.0030	0.0008	0.0013	3.826e-05	0.0002	0.0262	0.0043	0.0032	0.0027	0.0014	0.0038	0.0038	0.0030	0.0047	0.0032	0.0036	0.0035	0.0028	0.0027	0.0009	0	0.0017	0.0003	0	0.0273	0	0.0032	0.0028	0.0017	0.525	0.07670	T	0.801	0.07394	T	0.002	0.09854	B	0.003	0.08700	B	0.148588	0.18044	N	0.557646	0.999744	0.20609	N	.	.	.	1.56	0.42122	T	0.21	0.12661	N	0.062	0.08088	-1.0084	0.27416	T	0.030	0.13111	T	10	0.0017694831	0.00023	T	.	.	.	0.041	0.10877	.	.	0.117506650769	0.11410	0.056614154866244285	0.05602	0.121406115065	0.13675	0.241442590952	0.02921	T	3.55E-4	0.15298	T	-0.691628	0.00041	T	-0.768042	0.02833	T	0.000417056771666452	0.00003	T	0.775622	0.40735	T	0.017849216	0.00309	0.03172006	0.01801	0.017849216	0.00309	0.03172006	0.01801	-2.203	0.04055	T	.	.	0.051	0.00291	B	.;.;.	.;.;.	-0.116492	0.03543	0.679	0.45700381093811404	0.03606	0.18317	0.20210	N	AEFBI	0.028359	0.02483	N	-1.30178892839788	0.03655	0.1636621	-1.16576623317231	0.06490	0.3125424	0.994048131618382	0.33464	0.706548	0.73137	0	0.653731	0.59785	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	6.03	-2.37	0.06262	0.019000	0.13337	-0.286000	0.10231	-0.577000	0.04723	0.286000	0.25196	0.002000	0.18203	0.818000	0.38543	0.3087:0.0:0.6913:0.0	13.729	0.62258	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	0	0	0	1	0	1	0	0.004028	0.000000	0.004076	0.000000	0.000000	0.000000	0.015244	0.003788	0.02632	1101.33	37	chr10	100924899	.	A	G	1101.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.839;DP=746;ExcessHet=0;FS=0.923;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.73;ReadPosRankSum=-0.322;SOR=0.789	GT:AD:DP:GQ:PL	0/1:29,41:70:99:1115,0,762	18	0	1	0
chr10	101010745	101010745	G	A	exonic	PDZD7	.	nonsynonymous SNV	PDZD7:NM_001195263:exon15:c.C2144T:p.P715L	Usher syndrome, type IIC, GPR98/PDZD7 digenic, Autosomal recessive, Digenic dominant	7	1486	28	1	0	30	0.00999334	.	.	.	53291	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.050	.	.	0.00599042	0.0066	0	0	0	0.0417	0.0154	0	0.0037	0.0015653	242	154602	rs143414291	0.0110	0.0091	0.0111	0.0108	0.0118	0.0108	0.0107	0.0116	0.0115	0.0017	0.0077	0.0189	4.882e-05	0.0222	0.0113	0.0118	0.0119	0.0030	0.0080	0.0079	0.0080	0.0080	0.0123	0.0076	0.0075	0.0108	0.0102	0.0019	0.0045	0.0123	0.0159	0	0.0118	0.0140	0.0106	0.0122	0.0030	.	.	.	0.021	0.58089	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.165	0.17416	-0.9897	0.32677	T	0.069	0.28313	T	6	0.0062847733	0.00142	T	.	.	.	.	.	.	.	0.0934897674506	0.08844	0.3720811362910192	0.37122	.	.	0.472100496292	0.34969	T	.	.	.	-0.419907	0.01713	T	-0.366549	0.37293	T	0.0941627246702019	0.11702	T	0.625537	0.24174	T	0.06568587	0.14063	0.14167877	0.33731	0.07169355	0.15892	0.10242245	0.24546	-3.593	0.17756	T	0.1195348660652068	0.11147	0.083	0.09191	B	.;.	.;.	2.432426	0.31291	18.70	0.78602098339087845	0.12372	0.96490	0.69398	D	AEFBI	.	.	.	-0.0422751212939149	0.39948	2.364178	0.0306864226265816	0.41148	2.467257	0.999955382592637	0.48110	0.055982	0.00716	0	0.060609	0.00678	0	0.072005	0.02045	0	0.062806	0.01542	0	0.831938	0.49952	5.3	3.45	0.38602	3.247000	0.51123	3.352000	0.37793	-0.217000	0.08171	1.000000	0.71638	1.000000	0.68203	0.884000	0.42379	0.1604:0.0:0.8396:0.0	10.396	0.43385	556	0.71678	.;.	.	.	.	.	.	Likely benign	0	0	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	0.014340	0.021739	0.021552	0.015306	0.000000	0.000000	0.009524	0.000000	0.02778	1329.71	36	chr10	101010745	.	G	A	1329.71	.	AC=1;AF=0.028;AN=36;BaseQRankSum=0.671;DP=872;ExcessHet=0;FS=0;InbreedingCoeff=-0.0411;MLEAC=1;MLEAF=0.028;MQ=60;MQRankSum=0;QD=11.77;ReadPosRankSum=0.962;SOR=0.657	GT:AD:DP:GQ:PL	0/1:56,57:113:99:1343,0,1254	17	0	1	1
chr10	102141234	102141234	T	C	exonic	PPRC1	.	nonsynonymous SNV	PPRC1:NM_001288727:exon5:c.T2726C:p.V909A,PPRC1:NM_001288728:exon5:c.T2366C:p.V789A,PPRC1:NM_015062:exon5:c.T2726C:p.V909A	.	393	1072	56	1	0	58	0.0263397	.	.	.	3202232	PPRC1-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.047	0.0101490930981	0.0015	0.00119808	0.0029	0.0009	0.0029	0	0	0.0031	0.0066	0.0059	0.002639	408	154602	rs143292683	0.0020	0.0020	0.0019	0.0022	0.0196	0.0020	0.0019	0.0167	0.0156	0.0004	0.0032	0.0087	2.519e-05	9.36e-05	0.0196	0.0016	0.0034	0.0062	0.0021	0.0021	0.0019	0.0023	0.0066	0.0019	0.0018	0.0055	0.0051	0.0004	0	0.0066	0.0066	0	0	0.0102	0.0022	0.0024	0.0048	0.002	0.72154	D	0.374	0.16280	T	0.231	0.30614	B	0.039	0.23607	B	0.040146	0.24091	N	0.298293	0.999961	0.19072	N	1.83	0.48079	L	1.83	0.25018	T	0.02	0.06739	N	0.238	0.27792	-1.0440	0.16118	T	0.037	0.16116	T	10	0.0036765337	0.00067	T	0.010149	0.26346	T	0.047	0.12962	.	.	0.0675242888579	0.06100	0.14303085265315366	0.14226	0.500752496802	0.48480	0.469196081161	0.34570	T	0.013009	0.30165	T	-0.521682	0.00430	T	-0.519524	0.20342	T	0.0373172031698167	0.03211	T	0.783222	0.42989	T	0.058052696	0.11632	0.085910715	0.19868	0.058052696	0.11631	0.085910715	0.19868	-2.879	0.08935	T	.	.	0.188	0.40441	B	.;.	.;.	2.026997	0.25760	16.88	0.86320634306687338	0.16458	0.29377	0.23805	N	AEFBCI	0.053537	0.09655	N	-0.49094756658609	0.22378	1.19442	-0.420153200462829	0.24406	1.336295	0.99382276453179	0.33371	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.68	4.68	0.58319	0.965000	0.28916	4.582000	0.43923	0.665000	0.62972	0.035000	0.20724	1.000000	0.68203	0.012000	0.09680	0.0:0.0:0.1692:0.8308	10.053	0.41398	666	0.61362	.;.	.	.	.	.	.	Likely benign	0	0	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	0.024457	0.008772	0.050000	0.000000	0.021341	0.007576	0.02632	1870.33	35	chr10	102141234	.	T	C	1870.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.03;DP=866;ExcessHet=0;FS=1.825;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.95;ReadPosRankSum=-0.444;SOR=0.563	GT:AD:DP:GQ:PL	0/1:111,77:188:99:1884,0,3041	18	0	1	0
chr10	104034193	104034193	C	T	exonic	COL17A1	.	nonsynonymous SNV	COL17A1:NM_000494:exon52:c.G3908A:p.R1303Q	Epidermolysis bullosa, junctional, localisata variant, Autosomal recessive;Epidermolysis bullosa, junctional, non-Herlitz type, Autosomal recessive;Epithelial recurrent erosion dystrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	32689	Epidermolysis_bullosa,_junctional_4,_intermediate|COL17A1-related_disorder|Epithelial_recurrent_erosion_dystrophy|not_provided	MONDO:MONDO:0030750,MedGen:C2608084,OMIM:619787|.|MONDO:MONDO:0007381,MedGen:C1852551,OMIM:122400,Orphanet:293381|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	0.546	0.104682049413	7.7e-05	0.000199681	0.0002	0	0	0	0	0.0003	0	6.455e-05	0.0001294	20	154602	rs121912771	0.0001	0.0001	0.0001	0.0001	0.0002	0.0001	9.973e-05	0.0001	0.0001	2.989e-05	0	0	7.562e-05	3.755e-05	0	0.0001	3.316e-05	0.0002	0.0002	0.0002	0.0002	9.399e-05	0.0004	0.0001	9.233e-05	0.0002	0.0002	2.405e-05	0	0.0001	0	0	0	0	0.0003	0	0.0004	0.487	0.19361	T	0.329	0.22694	T	0.715	0.42183	P	0.143	0.33763	B	0.003576	0.34767	N	0.000000	4.41489e-10	0.08975	A	1.37	0.34214	L	-2.79	0.91134	D	-0.75	0.21003	N	0.265	0.30004	-0.5355	0.67334	T	0.472	0.79716	T	10	0.5087986	0.61975	D	0.104682	0.77940	D	0.546	0.81135	.	.	0.672318618897	0.66954	0.30015711648639876	0.29928	0.0753709897467	0.08448	0.441708922386	0.30811	T	0.209301	0.56948	T	-0.0610073	0.42750	T	0.00665522	0.70766	D	0.0653609981101725	0.07984	T	0.572443	0.20452	T	0.1265333	0.29634	0.10324836	0.24768	0.13233986	0.30819	0.08397025	0.19284	-3.024	0.10442	T	.	.	0.089	0.11989	B	.;.;.	.;.;.	2.402917	0.30876	18.57	0.82224107185953377	0.14082	0.33209	0.24773	N	AEFDBCI	0.110360	0.21886	N	-0.602801834667604	0.18859	0.982547	-0.637327836458153	0.18537	0.9906897	0.944367920998042	0.27612	0.475973	0.10046	0	0.514364	0.08380	0	0.536957	0.11973	0	0.528226	0.09195	0	.	.	4.87	3.96	0.45097	0.491000	0.22128	1.146000	0.24443	0.524000	0.24156	0.000000	0.06391	0.000000	0.08366	0.321000	0.24994	0.0:0.7088:0.2912:0.0	13.701	0.62090	54	0.97570	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	981.33	34	chr10	104034193	.	C	T	981.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.7;DP=737;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.58;ReadPosRankSum=-1.632;SOR=0.617	GT:AD:DP:GQ:PL	0/1:41,37:78:99:995,0,1034	18	0	1	0
chr10	110122294	110122294	T	C	splicing	ADD3	NM_001320591:exon10:c.1143+2T>C;NM_001320592:exon9:c.1143+2T>C;NM_001320593:exon9:c.1143+2T>C;NM_019903:exon9:c.1143+2T>C;NM_001121:exon9:c.1143+2T>C;NM_001320594:exon10:c.909+2T>C;NM_016824:exon9:c.1143+2T>C	.	.	Cerebral palsy, spastic quadriplegic, 3, Autosomal recessive	.	.	.	.	.	.	.	0.9892	0.674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38887	0.89257	D	0.320808	0.89122	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	5.505262	0.91630	32	0.99472051321756627	0.66419	0.99211	0.92869	D	AEFGBI	.	.	.	1.12429404270019	0.98559	18.63119	0.976091912694139	0.98109	17.44829	0.999999865142739	0.74766	0.295142	0.05270	0	0.30413	0.05452	0	0.343423	0.05949	0	0.221052	0.04502	0	0.976281	0.79478	5.77	5.77	0.91077	7.674000	0.83146	7.930000	0.74972	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.800000	0.37734	0.0:0.0:0.0:1.0	16.136	0.81299	951	0.11083	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	739.33	36	chr10	110122294	.	T	C	739.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.17;DP=654;ExcessHet=0;FS=1.255;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.5;ReadPosRankSum=-1.01;SOR=0.483	GT:AD:DP:GQ:PL	0/1:24,27:51:99:753,0,644	18	0	1	0
chr10	114290299	114290299	G	C	exonic	VWA2	.	nonsynonymous SNV	VWA2:NM_001272046:exon13:c.G2182C:p.V728L,VWA2:NM_001320804:exon13:c.G2182C:p.V728L	.	437	1079	6	0	0	6	0.00277264	.	.	.	712176	VWA2-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.283	0.0479908215589	.	0.00119808	0.0032	0.0011	0	0	0.0017	0.0068	0.0052	0.0014	0.0012225	189	154602	rs45560935	0.0071	0.0068	0.0072	0.0070	0.0084	0.0070	0.0070	0.0082	0.0082	0.0009	0.0030	0.0077	2.798e-05	0.0012	0.0032	0.0084	0.0065	0.0018	0.0042	0.0042	0.0045	0.0039	0.0073	0.0039	0.0038	0.0067	0.0065	0.0012	0	0.0033	0.0049	0	0.0010	0	0.0073	0.0052	0.0010	0.062	0.36912	T	0.08	0.41913	T	0.819	0.45682	P	0.272	0.39956	B	0.065105	0.21904	N	0.461364	0.999974	0.18612	N	1.425	0.35738	L	-3.0	0.92158	D	-0.77	0.21429	N	0.235	0.26475	-0.3627	0.73183	T	0.431	0.77258	T	9	0.010863394	0.00240	T	0.047991	0.63174	D	0.283	0.60100	.	.	0.256283259241	0.25257	0.5600709737082584	0.55934	.	.	0.328970015049	0.14778	T	0.133824	0.46473	T	-0.332222	0.05945	T	-0.243451	0.50462	T	0.00259579810364478	0.00027	T	0.643636	0.25529	T	0.06709533	0.14499	0.08920413	0.20845	0.06709533	0.14498	0.08920413	0.20844	-3.533	0.16897	T	0.206353611543292	0.27553	0.118	0.24088	B	.	.	0.803261	0.11738	8.316	0.91708217591352614	0.21002	0.22141	0.21645	N	AEFDGBCI	0.294190	0.40463	N	-0.884419530040341	0.11212	0.5398869	-0.998199850672625	0.09825	0.491107	0.0831568253700793	0.15920	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.65	-1.47	0.08312	0.330000	0.19460	-1.448000	0.05416	-0.667000	0.04321	0.023000	0.19925	0.000000	0.08366	0.431000	0.27472	0.5818:0.0:0.4182:0.0	10.348	0.43102	628	0.65206	EGF-like domain|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain	CTB-1144G6.6	Nerve_Tibial	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.02632	1791.33	33	chr10	114290299	.	G	C	1791.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.01;DP=756;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.43;ReadPosRankSum=-0.794;SOR=0.711	GT:AD:DP:GQ:PL	0/1:45,64:109:99:1805,0,967	18	0	1	0
chr10	116444422	116444422	A	T	exonic	PNLIPRP3	.	nonsynonymous SNV	PNLIPRP3:NM_001011709:exon4:c.A365T:p.D122V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.685	0.0488450651148	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000007	0.62929	D	0.000000	0.998983	0.45816	D	4.36	0.98503	H	-3.73	0.95458	D	-8.27	0.96930	D	0.759	0.75742	0.989	0.97001	D	0.944	0.98180	D	10	0.9857701	0.98849	D	0.048845	0.63553	D	0.685	0.88490	0.904	0.97943	0.847823322792	0.84636	0.8653989483832158	0.86504	0.333543510513	0.35392	0.373652994633	0.21354	T	0.649311	0.89338	D	0.371135	0.88131	D	0.295333	0.87980	D	0.999196231365204	0.96500	D	0.918008	0.70480	D	0.8895571	0.90469	0.79626465	0.88036	0.8895571	0.90470	0.79626465	0.88036	-10.411	0.76334	D	.	.	0.269	0.50343	B	.	.	3.110433	0.41958	21.4	0.98784268989761381	0.46175	0.74024	0.36207	D	AEFBCI	0.077656	0.15650	N	0.316441557739167	0.56992	3.865048	0.051889023936809	0.42164	2.545512	0.0180440491980644	0.13016	0.525926	0.21836	0	0.573888	0.26702	0	0.573888	0.23631	0	0.584449	0.35598	0	.	.	5.07	2.57	0.29928	2.973000	0.48956	1.820000	0.29033	0.691000	0.84096	0.944000	0.32806	0.000000	0.08366	0.027000	0.12703	0.7079:0.0:0.0:0.2921	9.382	0.37478	771	0.49057	Lipase/vitellogenin|Lipase, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	562.33	43	chr10	116444422	.	A	T	562.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.482;DP=684;ExcessHet=0;FS=0.996;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.53;ReadPosRankSum=-0.568;SOR=0.856	GT:AD:DP:GQ:PL	0/1:34,25:59:99:576,0,808	18	0	1	0
chr10	119423247	119423247	C	A	exonic	GRK5	.	nonsynonymous SNV	GRK5:NM_005308:exon5:c.C421A:p.L141I	.	.	.	.	.	.	.	.	.	.	.	712192	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.029	.	0.0046	0.00479233	0.0014	0.0150	0.0007	0	0	2.998e-05	0	0	0.0012548	194	154602	rs56254855	0.0004	0.0004	0.0005	0.0004	0.0153	0.0004	0.0004	0.0142	0.0138	0.0153	0.0004	0	0	0	0.0009	3.418e-05	0.0008	4.638e-05	0.0042	0.0042	0.0045	0.0038	0.0147	0.0039	0.0038	0.0138	0.0134	0.0147	0	0.0008	0	0	0	0	1.47e-05	0.0033	0	0.229	0.18371	T	0.168	0.30631	T	0.001	0.07471	B	0.026	0.20792	B	0.025738	0.26038	N	0.262962	0.994186	0.42191	D	1.31	0.32734	L	4.36	0.02298	T	-0.16	0.09460	N	0.29	0.32812	-0.8883	0.49080	T	0.004	0.01470	T	10	0.012267351	0.00264	T	.	.	.	0.029	0.06676	.	.	0.265735104816	0.26182	0.2002390348620072	0.19940	0.883292400832	0.69847	0.520106554031	0.41641	T	0.091037	0.38712	T	-0.582764	0.00185	T	-0.597553	0.13017	T	0.00869495840589022	0.00107	T	0.873013	0.58094	D	0.15350595	0.34792	0.11044622	0.26632	0.15350595	0.34792	0.11044622	0.26631	-5.461	0.41502	T	.	.	0.085	0.10159	B	.	.	1.609619	0.20572	14.81	0.965897378327224	0.30365	0.94274	0.60646	D	AEFDBI	0.291521	0.40263	N	-0.448393682276923	0.23795	1.28033	-0.36539700542213	0.26036	1.435631	0.999999297429617	0.74766	0.732398	0.92422	0	0.702456	0.74545	0	0.67347	0.61138	0	0.727631	0.95156	0	.	.	4.71	2.79	0.31792	1.449000	0.34734	1.392000	0.26124	0.599000	0.40250	0.993000	0.37899	0.871000	0.27593	0.803000	0.37862	0.0:0.7218:0.2782:0.0	14.590	0.67954	964	0.07719	RGS domain|RGS domain|RGS 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	0.02632	967.33	34	chr10	119423247	.	C	A	967.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.334;DP=741;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.64;ReadPosRankSum=-0.021;SOR=0.654	GT:AD:DP:GQ:PL	0/1:69,43:112:99:981,0,1734	18	0	1	0
chr10	119898750	119898750	C	G	exonic	SEC23IP	.	nonsynonymous SNV	SEC23IP:NM_007190:exon2:c.C487G:p.L163V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.336	0.120769286184	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.03e-05	0.0002	1.093e-05	9.654e-06	1.174e-05	6.18e-06	4.9e-06	6.55e-06	5.05e-06	0	0	0	0	0	0	1.174e-05	3.32e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.556	0.06461	T	0.821	0.12246	T	0.104	0.25941	B	0.062	0.26930	B	0.000005	0.62929	D	0.107180	1	0.81001	D	1.78	0.46185	L	-4.25	0.97054	D	0.01	0.06868	N	0.207	0.22998	0.479	0.90252	D	0.815	0.93762	D	10	0.15099514	0.28548	T	0.120769	0.80138	D	0.336	0.65816	0.186	0.09517	0.849074084723	0.84762	0.11778504863915601	0.11705	0.144110295782	0.16271	0.353825509548	0.18484	T	0.091547	0.38818	T	0.043976	0.57564	T	-0.174608	0.57021	T	0.556831955909729	0.34735	D	0.738826	0.35731	T	0.14919165	0.34025	0.09147891	0.21510	0.14919165	0.34024	0.09147891	0.21510	-3.167	0.12082	T	.	.	0.071	0.05274	B	.;.	.;.	1.155811	0.15440	11.85	0.95415677836796886	0.26887	0.98451	0.82913	D	AEFGBI	0.532298	0.55222	D	-0.292483383673774	0.29436	1.632456	-0.16913862766753	0.32679	1.861587	0.999999898467037	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.55	4.65	0.57626	2.670000	0.46499	2.509000	0.33065	0.599000	0.40250	1.000000	0.71638	0.997000	0.33255	0.518000	0.29429	0.0:0.9277:0.0:0.0723	14.037	0.64172	631	0.64944	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.3	179.35	180	chr10	119898750	.	C	G	179.35	.	AC=3;AF=0.3;AN=10;BaseQRankSum=-5.428;DP=2753;ExcessHet=0.3672;FS=259.479;InbreedingCoeff=-0.3586;MLEAC=6;MLEAF=0.6;MQ=60;MQRankSum=0;QD=0.34;ReadPosRankSum=0.328;SOR=10.048	GT:AD:DP:GQ:PL	0/1:146,50:209:53:53,0,3104	2	0	3	14
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	1062.87	83	chr10	122983003	.	G	C	1062.87	.	AC=12;AF=0.333;AN=36;BaseQRankSum=-1.7;DP=2257;ExcessHet=11.1788;FS=178.411;InbreedingCoeff=-0.4627;MLEAC=12;MLEAF=0.333;MQ=60;MQRankSum=0;QD=0.87;ReadPosRankSum=0.593;SOR=13.029	GT:AD:DP:GQ:PL	0/1:77,44:121:99:207,0,1101	6	0	12	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	.	.	.	.	.	.	.	.	0.4737	20592.3	168	chr10	124989543	.	T	C	20592.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-3.212;DP=2545;ExcessHet=38.2876;FS=17.974;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=49.65;MQRankSum=-8.998;QD=8.51;ReadPosRankSum=0.06;SOR=0.178	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:108,38:146:99:0|1:124989533_G_A:1271,0,4302:124989533	1	0	18	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4474	8765.83	174	chr10	124989564	.	TG	T	8765.83	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-3.94;DP=2670;ExcessHet=31.086;FS=16.933;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=51.59;MQRankSum=-8.373;QD=3.69;ReadPosRankSum=-1.813;SOR=0.178	GT:AD:DP:GQ:PL	0/1:118,28:146:99:595,0,3943	2	0	17	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	.	.	.	.	.	.	.	.	0.3571	1989.41	182	chr10	124989579	.	G	C	1989.41	.	AC=10;AF=0.357;AN=28;BaseQRankSum=-0.436;DP=2864;ExcessHet=6.9875;FS=14.618;InbreedingCoeff=-0.4859;MLEAC=12;MLEAF=0.429;MQ=53.46;MQRankSum=-7.748;QD=1.37;ReadPosRankSum=-3.038;SOR=0.509	GT:AD:DP:GQ:PL	0/1:128,25:153:99:278,0,3523	4	0	10	5
chr10	124989594	124989594	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon9:c.C1466T:p.A489V,CTBP2:NM_022802:exon9:c.C2882T:p.A961V,CTBP2:NM_001321013:exon10:c.C1262T:p.A421V,CTBP2:NM_001083914:exon11:c.C1262T:p.A421V,CTBP2:NM_001290214:exon11:c.C1262T:p.A421V,CTBP2:NM_001290215:exon11:c.C1262T:p.A421V,CTBP2:NM_001321012:exon11:c.C1262T:p.A421V,CTBP2:NM_001321014:exon11:c.C1262T:p.A421V,CTBP2:NM_001329:exon11:c.C1262T:p.A421V	.	434	994	92	2	0	96	0.0460653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.413	0.0164095717119	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs796932553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.61437	D	0.153	0.47581	T	0.0	0.29493	B	0.003	0.29851	B	0.000074	0.52346	D	0.171354	0.998727	0.45339	D	0	0.06538	N	-1.7	0.83893	D	-1.52	0.36980	N	0.068	0.35088	-0.3593	0.73284	T	0.375	0.73332	T	10	0.20304337	0.36446	T	0.01641	0.37653	T	0.413	0.72404	0.116	0.02439	0.921111971606	0.92031	0.4850374405507885	0.48423	1.38571311652	0.84878	0.61237859726	0.54653	T	0.238026	0.60585	T	0.178629	0.71918	D	0.0188116	0.71553	D	0.939782977104187	0.61154	D	0.778122	0.41194	T	0.23727793	0.46589	0.19780372	0.43581	0.23727793	0.46589	0.19780372	0.43580	-4.076	0.27513	T	.	.	0.188	0.40538	B	.;.;.;.;.;.	.;.;.;.;.;.	3.666132	0.52110	23.2	0.99088467818009263	0.52149	0.89521	0.50038	D	AEFDGBCI	0.658597	0.62981	D	0.0387136870084276	0.43625	2.651733	0.235082274552022	0.51805	3.359932	0.999999999873815	0.74766	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	5.529000	0.66849	9.961000	0.82795	-0.105000	0.15698	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	0.0:0.0:1.0:0.0	16.928	0.86052	939	0.14249	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	720.63	43	chr10	124989594	.	G	A	720.63	.	AC=6;AF=0.167;AN=36;BaseQRankSum=-2.445;DP=2053;ExcessHet=2.0135;FS=10.856;InbreedingCoeff=-0.2058;MLEAC=6;MLEAF=0.167;MQ=55.3;MQRankSum=-7.601;QD=0.79;ReadPosRankSum=-3.679;SOR=0.824	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:144,16:160:99:0|1:124989594_G_A:117,0,5942:124989594	12	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	.	.	.	.	.	.	.	.	0.4474	8869.86	35	chr10	124994501	.	G	A	8869.86	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-1.103;DP=3037;ExcessHet=31.086;FS=31.76;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=57.66;MQRankSum=-6.926;QD=3.22;ReadPosRankSum=-2.916;SOR=3.739	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:149,13:162:98:0|1:124994489_T_G:98,0,6182:124994489	2	0	17	0
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	.	.	.	.	.	.	.	.	0.4474	9100.86	35	chr10	124994505	.	A	T	9100.86	.	AC=17;AF=0.447;AN=38;BaseQRankSum=2.29;DP=3109;ExcessHet=31.086;FS=32.046;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=57.53;MQRankSum=-6.856;QD=3.31;ReadPosRankSum=-2.157;SOR=3.807	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:151,14:165:99:0|1:124994489_T_G:122,0,6217:124994489	2	0	17	0
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	.	.	.	.	.	.	.	.	0.4737	13165.0	224	chr10	124994530	.	G	A	13165.0	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-0.518;DP=3717;ExcessHet=38.2876;FS=52.691;InbreedingCoeff=-0.9045;MLEAC=18;MLEAF=0.474;MQ=56.99;MQRankSum=-6.295;QD=4.31;ReadPosRankSum=1.03;SOR=4.688	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:152,21:173:99:0|1:124994523_G_A:405,0,6154:124994523	1	0	18	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	.	.	.	.	.	.	.	.	0.4722	6669.77	218	chr10	124994542	.	C	T	6669.77	.	AC=17;AF=0.472;AN=36;BaseQRankSum=-2.167;DP=3803;ExcessHet=31.086;FS=61.277;InbreedingCoeff=-0.8537;MLEAC=18;MLEAF=0.5;MQ=56.82;MQRankSum=-6.243;QD=2.29;ReadPosRankSum=2.29;SOR=5.37	GT:AD:DP:GQ:PL	0/1:149,23:172:99:155,0,4303	1	0	17	1
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	6662.69	214	chr10	124994563	.	A	T	6662.69	.	AC=18;AF=0.5;AN=36;BaseQRankSum=-2.888;DP=3853;ExcessHet=38.2876;FS=70.258;InbreedingCoeff=-0.9487;MLEAC=19;MLEAF=0.528;MQ=56.72;MQRankSum=-6.4;QD=2.12;ReadPosRankSum=3.59;SOR=5.482	GT:AD:DP:GQ:PL	0/1:150,26:176:99:151,0,4348	0	0	18	1
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	18811.3	222	chr10	124994577	.	C	A	18811.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-4.155;DP=3962;ExcessHet=48.2876;FS=72.251;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=56.8;MQRankSum=-6.921;QD=5.38;ReadPosRankSum=2.92;SOR=5.081	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:157,24:181:99:0|1:124994577_C_A:524,0,6356:124994577	0	0	19	0
chr11	404322	404322	C	T	exonic	PKP3	.	nonsynonymous SNV	PKP3:NM_007183:exon12:c.C2357T:p.A786V,PKP3:NM_001303029:exon13:c.C2402T:p.A801V	.	.	.	.	.	.	.	.	0.5615	0.374	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.105599430444	.	0.000199681	3.344e-05	0	8.666e-05	0	0	1.531e-05	0	0.0001	3.23e-05	5	154602	rs540307035	1.987e-05	2.189e-05	1.909e-05	2.066e-05	0.0001	1.394e-05	1.206e-05	4.359e-05	2.768e-05	5.976e-05	0.0001	0	0	0	0	1.62e-05	0	4.638e-05	7.883e-05	7.875e-05	7.713e-05	8.061e-05	0.0005	4.496e-05	3.511e-05	0.0002	0.0002	2.408e-05	0	0.0005	0	0	0	0	5.881e-05	0	0	0.517	0.07330	T	0.294	0.20745	T	0.059	0.23051	B	0.003	0.08700	B	0.045159	0.23566	N	0.365970	0.947162	0.37557	D	0.665	0.16292	N	-1.4	0.80474	T	-1.16	0.29727	N	0.191	0.20925	-1.0246	0.22214	T	0.102	0.37768	T	10	0.08422169	0.14094	T	0.105599	0.78079	D	0.234	0.53644	0.284	0.24121	0.856090422404	0.85470	0.3677115182006392	0.36685	0.0700220257158	0.07844	0.516404032707	0.41120	T	0.132691	0.46292	T	-0.224449	0.17389	T	-0.290882	0.45682	T	0.0461493916809559	0.04811	T	0.740126	0.35895	T	0.06905103	0.15097	0.06426885	0.12854	0.06905103	0.15097	0.06426885	0.12854	-4.958	0.36381	T	.	.	0.092	0.13456	B	.	.	4.799822	0.77971	26.8	0.99699841420857216	0.80522	0.81140	0.40608	D	AEFDBI	0.484959	0.52476	N	0.214742398876989	0.51914	3.369043	0.180777903571948	0.48795	3.090645	0.913189350956941	0.26416	0.695654	0.57023	0	0.588066	0.40923	0	0.723109	0.80598	0	0.604944	0.38103	0	.	.	4.28	3.28	0.36691	2.262000	0.42941	5.766000	0.49713	0.549000	0.26987	0.999000	0.42656	1.000000	0.68203	0.770000	0.36519	0.0:0.7389:0.1629:0.0982	8.157	0.30337	900	0.24599	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1148.33	37	chr11	404322	.	C	T	1148.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.452;DP=1050;ExcessHet=0;FS=0.775;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.09;ReadPosRankSum=0.3;SOR=0.784	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:50,45:95:99:1|0:404317_C_T:1162,0,1953:404317	18	0	1	0
chr11	428624	428624	C	T	exonic	ANO9	.	nonsynonymous SNV	ANO9:NM_001347882:exon12:c.G604A:p.G202S,ANO9:NM_001012302:exon13:c.G1036A:p.G346S	.	378	1143	1	0	0	1	0.000437254	.	.	.	2350915	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.361	0.240428495329	7.7e-05	.	6.781e-05	0	0	0	0	0.0001	0	0	5.82e-05	9	154602	rs143634897	6.919e-05	6.977e-05	6.815e-05	7.024e-05	0.0002	5.788e-05	5.399e-05	6.875e-05	6.372e-05	0	0	0	0	3.848e-05	0.0002	8.277e-05	8.289e-05	1.16e-05	7.878e-05	7.873e-05	0.0001	5.37e-05	0.0002	4.493e-05	3.509e-05	9.05e-05	7.014e-05	0	0	0	0	0	0	0	0.0002	0.0005	0	0.521	0.07235	T	0.068	0.44106	T	1.0	0.90584	D	0.94	0.67560	D	0.000004	0.00162	U	9.249570	0.999957	0.52396	D	1.685	0.43254	L	-0.04	0.63240	T	-2.34	0.51811	N	0.678	0.68516	-0.6925	0.60792	T	0.375	0.73310	T	10	0.7715333	0.77122	D	0.240428	0.88673	D	0.361	0.68141	.	.	0.607307720492	0.60415	0.7124721201964531	0.71189	0.867068054903	0.69251	0.50328040123	0.39285	T	0.109746	0.42387	T	-0.175297	0.24439	T	-0.24127	0.50673	T	0.479891270399094	0.31893	T	0.79722	0.44094	T	0.29130936	0.52114	0.37203395	0.62421	0.29130936	0.52114	0.37203395	0.62420	-9.012	0.67775	D	.	.	0.135	0.29367	B	.	.	4.499870	0.70371	25.5	0.99839055515339792	0.91972	0.96934	0.71741	D	AEFDBI	0.723767	0.67328	D	0.343522487021428	0.58397	4.011827	0.31650350398014	0.56511	3.814346	0.999999999807422	0.74766	0.634777	0.41761	0	0.643519	0.57511	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	4.17	4.17	0.48303	3.045000	0.49528	5.449000	0.48641	0.517000	0.23534	0.992000	0.37556	1.000000	0.68203	0.454000	0.27984	0.0:1.0:0.0:0.0	16.927	0.86050	900	0.24599	.	.	.	.	.	.	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	0.001008	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2486.33	36	chr11	428624	.	C	T	2486.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.96;DP=1004;ExcessHet=0;FS=1.174;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.13;ReadPosRankSum=-0.13;SOR=0.614	GT:AD:DP:GQ:PL	0/1:89,87:176:99:2500,0,2107	18	0	1	0
chr11	556942	556942	G	A	exonic	LMNTD2	.	nonsynonymous SNV	LMNTD2:NM_173573:exon8:c.C869T:p.P290L	.	.	.	.	.	.	.	.	.	.	.	3701670	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.006	0.00476340867819	0.0002	.	4.931e-05	0	0	0	0	8.939e-05	0	0	3.23e-05	5	154602	rs138732057	0.0001	0.0001	0.0001	0.0001	0.0001	9.758e-05	9.232e-05	0.0001	0.0001	2.993e-05	4.536e-05	0	0	0	0	0.0001	6.664e-05	0	0.0007	0.0007	0.0006	0.0007	0.0002	0.0006	0.0005	9.047e-05	7.012e-05	0	0.1000	0	0	0	0	0	0.0002	0	0	1.0	0.00964	T	0.484	0.11760	T	0.001	0.07471	B	0.001	0.04355	B	0.090089	0.02445	N	2.179350	1	0.08975	N	.	.	.	1.12	0.39223	T	0.74	0.02038	N	0.049	0.02088	-1.0221	0.23031	T	0.043	0.18618	T	10	0.0036161542	0.00066	T	0.004763	0.11879	T	0.006	0.00375	.	.	0.202086224978	0.19791	0.044710596615470825	0.04415	0.0660348070663	0.07365	.	.	.	0.002922	0.02319	T	-0.517821	0.00453	T	-0.798199	0.01948	T	0.0210639036866366	0.00808	T	0.425957	0.13535	T	0.017686391	0.00294	0.030072223	0.01418	0.017686391	0.00293	0.030072223	0.01418	-4.352	0.28900	T	.	.	0.087	0.13690	B	.;.	.;.	-1.361293	0.00389	0.007	0.69361897920871052	0.08948	0.00652	0.02836	N	AEFDBI	0.045217	0.07371	N	-1.89129045137323	0.00358	0.01536865	-1.94090833359926	0.00406	0.01793079	0.999998963861171	0.74766	0.609539	0.35627	0	0.493711	0.08144	1	0.64067	0.45733	0	0.63947	0.58350	0	.	.	4.28	-6.66	0.01624	-1.406000	0.02596	-0.800000	0.07378	-1.947000	0.00486	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2199:0.0:0.5158:0.2643	6.868	0.23285	912	0.21483	.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.02632	1159.33	36	chr11	556942	.	G	A	1159.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.455;DP=783;ExcessHet=0;FS=1.706;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.74;ReadPosRankSum=0.555;SOR=0.654	GT:AD:DP:GQ:PL	0/1:41,50:91:99:1173,0,871	18	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	.	.	.	.	.	.	.	.	0.3684	8543.31	218	chr11	1018290	.	G	A	8543.31	.	AC=14;AF=0.368;AN=38;BaseQRankSum=4.18;DP=5186;ExcessHet=31.086;FS=18.111;InbreedingCoeff=-0.8095;MLEAC=14;MLEAF=0.368;MQ=55.27;MQRankSum=-8.441;QD=1.76;ReadPosRankSum=1.38;SOR=1.969	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:227,24:273:84:.:.:324,0,9459:.	5	0	14	0
chr11	1078510	1078510	G	A	exonic	MUC2	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.268	0.0429524836275	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1191187535	8.689e-06	2.257e-05	5.718e-06	1.174e-05	2.773e-05	4.63e-06	3.66e-06	3.19e-06	2.31e-06	0	0	0	2.773e-05	0	0	7.417e-06	3.47e-05	1.274e-05	1.314e-05	1.313e-05	1.285e-05	1.345e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	661.33	40	chr11	1078510	.	G	A	661.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.802;DP=721;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.03;ReadPosRankSum=0.012;SOR=0.586	GT:AD:DP:GQ:PL	0/1:19,25:44:99:675,0,523	18	0	1	0
chr11	1096155	1096155	C	0	exonic	MUC2	.	.	.	.	456	828	3	1	234	239	0.00301023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2647	1368.84	440	chr11	1096155	.	C	*	1368.84	.	AC=9;AF=0.265;AN=34;BaseQRankSum=2.27;DP=8782;ExcessHet=6.9875;FS=1.819;InbreedingCoeff=-0.4074;MLEAC=10;MLEAF=0.294;MQ=55.63;MQRankSum=-1.462;QD=0.48;ReadPosRankSum=-6.177;SOR=0.831	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:239,123:362:99:0|1:1096143_TGACACCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC_T:4419,0,8460:1096143	8	0	9	2
chr11	1096168	1096168	G	0	exonic	MUC2	.	.	.	.	1	110	14	0	101	115	0.0598291	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2632	2015.37	440	chr11	1096168	.	G	*	2015.37	.	AC=10;AF=0.263;AN=38;BaseQRankSum=1.61;DP=9016;ExcessHet=8.9063;FS=1.149;InbreedingCoeff=-0.4074;MLEAC=10;MLEAF=0.263;MQ=55.65;MQRankSum=2.2;QD=0.58;ReadPosRankSum=-1.711;SOR=0.808	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:239,123:362:99:0|1:1096143_TGACACCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC_T:4419,0,8460:1096143	9	0	10	0
chr11	1096170	1096212	TGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC	0	exonic	MUC2	.	.	.	.	1	116	21	0	88	109	0.083004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	685.62	440	chr11	1096170	.	TGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC	*	685.62	.	AC=9;AF=0.25;AN=36;BaseQRankSum=2.47;DP=8861;ExcessHet=6.9875;FS=1.838;InbreedingCoeff=-0.3818;MLEAC=9;MLEAF=0.25;MQ=57.05;MQRankSum=-2.059;QD=0.2;ReadPosRankSum=1.49;SOR=0.838	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:239,123:362:99:0|1:1096143_TGACACCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC_T:4419,0,8460:1096143	9	0	9	1
chr11	1096180	1096180	C	0	exonic	MUC2	.	.	.	.	532	749	62	4	175	245	0.0446429	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	5030.81	440	chr11	1096180	.	C	*	5030.81	.	AC=8;AF=0.333;AN=24;BaseQRankSum=0.917;DP=8171;ExcessHet=6.9875;FS=1.141;InbreedingCoeff=-0.551;MLEAC=10;MLEAF=0.417;MQ=55.72;MQRankSum=-4.128;QD=1.58;ReadPosRankSum=0.461;SOR=0.796	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:239,123:362:99:0|1:1096143_TGACACCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC_T:4419,0,8460:1096143	4	0	8	7
chr11	1096181	1096181	C	0	exonic	MUC2	.	.	.	.	514	824	9	0	175	184	0.0054315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	1705.26	440	chr11	1096181	.	C	*	1705.26	.	AC=6;AF=0.214;AN=28;BaseQRankSum=0.922;DP=7954;ExcessHet=2.9153;FS=1.896;InbreedingCoeff=-0.3333;MLEAC=7;MLEAF=0.25;MQ=55.19;MQRankSum=-3.126;QD=0.71;ReadPosRankSum=1.32;SOR=0.892	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:239,123:362:99:0|1:1096143_TGACACCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC_T:4419,0,8460:1096143	8	0	6	5
chr11	1096182	1096182	C	0	exonic	MUC2	.	.	.	.	522	823	174	0	3	177	0.0956044	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	1918.01	440	chr11	1096182	.	C	*	1918.01	.	AC=6;AF=0.2;AN=30;BaseQRankSum=-3.937;DP=7957;ExcessHet=2.9153;FS=1.867;InbreedingCoeff=-0.3103;MLEAC=7;MLEAF=0.233;MQ=56.52;MQRankSum=2.34;QD=0.79;ReadPosRankSum=1.24;SOR=0.868	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:239,123:362:99:0|1:1096143_TGACACCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC_T:4419,0,8460:1096143	9	0	6	4
chr11	1096211	1096211	A	0	exonic	MUC2	.	.	.	.	606	732	15	0	169	184	0.010142	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.375	3229.97	460	chr11	1096211	.	A	*	3229.97	.	AC=6;AF=0.375;AN=16;BaseQRankSum=-0.565;DP=7074;ExcessHet=4.3158;FS=1.16;InbreedingCoeff=-0.551;MLEAC=9;MLEAF=0.563;MQ=57.59;MQRankSum=-3.357;QD=1.21;ReadPosRankSum=0.115;SOR=0.796	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:192,123:342:99:1|0:1096143_TGACACCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC_T:4458,0,7190:1096143	2	0	6	11
chr11	1096743	1096743	T	C	exonic	MUC2	.	unknown	UNKNOWN	.	924	586	6	0	6	12	0.00509338	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0025	0.0052	0.0026	0.0024	0.0059	0.0023	0.0023	0.0041	0.0038	0.0056	0.0031	0.0026	0.0059	0.0052	0.0046	0.0020	0.0024	0.0050	0	0.0010	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	.	.	.	.	.	.	.	.	0.1667	164.8	27	chr11	1096743	.	T	C	164.8	.	AC=3;AF=0.167;AN=18;BaseQRankSum=2.11;DP=702;ExcessHet=2.9231;FS=42.244;InbreedingCoeff=-0.1675;MLEAC=5;MLEAF=0.278;MQ=41.83;MQRankSum=-1.147;QD=0.86;ReadPosRankSum=-1.775;SOR=2.312	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:21,2:23:21:0|1:1096650_C_T:21,0,631:1096650	6	0	3	10
chr11	1097836	1097836	A	C	exonic	MUC2	.	unknown	UNKNOWN	.	689	813	20	0	0	20	0.0121507	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1381655864	0.0037	0.0059	0.0036	0.0039	0.0058	0.0036	0.0036	0.0037	0.0036	0.0011	0.0028	0.0031	0.0002	0.0123	0.0058	0.0038	0.0035	0.0039	0.0072	0.0056	0.0067	0.0078	0.0117	0.0064	0.0061	0.0102	0.0096	0.0017	0	0.0056	0	0.0010	0.0117	0	0.0117	0.0082	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	.	.	.	.	.	.	.	.	0.2308	583.2	75	chr11	1097836	.	A	C	583.2	.	AC=6;AF=0.231;AN=26;BaseQRankSum=-2.723;DP=1901;ExcessHet=2.0135;FS=28.862;InbreedingCoeff=-0.31;MLEAC=8;MLEAF=0.308;MQ=35.49;MQRankSum=-1.272;QD=1.2;ReadPosRankSum=-1.828;SOR=2.632	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:82,14:96:99:.:.:192,0,2510:.	7	0	6	6
chr11	1099366	1099435	TGACGCCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCCC	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	10864.2	243	chr11	1099366	.	TGACGCCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCCC	*	10864.2	.	AC=6;AF=0.25;AN=24;BaseQRankSum=0.547;DP=5993;ExcessHet=10.1553;FS=0;InbreedingCoeff=-0.334;MLEAC=8;MLEAF=0.333;MQ=52.45;MQRankSum=-1.475;QD=4.61;ReadPosRankSum=-0.914;SOR=0.678	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:110,199:337:99:.:.:2881,0,3505:.	6	0	6	7
chr11	1099370	1099370	G	0	exonic	MUC2	.	.	.	.	923	13	249	324	13	910	0.971831	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2368	76561.1	246	chr11	1099370	.	G	*	76561.1	.	AC=9;AF=0.237;AN=38;BaseQRankSum=1.87;DP=5970;ExcessHet=0;FS=0;InbreedingCoeff=nan;MLEAC=9;MLEAF=0.237;MQ=52.86;MQRankSum=-0.915;QD=21.15;ReadPosRankSum=0.851;SOR=0.704	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:0,199:341:99:.:.:8485,4414,4715:.	10	0	9	0
chr11	1247925	1247925	C	T	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon31:c.C11045T:p.T3682M	.	415	1106	1	0	0	1	0.000451875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.172	0.00191972982658	.	0.000798722	0.0004	0.0002	0.0003	0	0	0.0006	0.0011	0.0002	3.23e-05	5	154602	rs200085279	0.0003	0.0003	0.0003	0.0003	0.0003	0.0003	0.0002	0.0003	0.0003	5.977e-05	0.0001	0	7.557e-05	0.0004	0.0002	0.0003	0.0003	0.0003	0.0002	0.0002	0.0002	0.0001	0.0002	0.0001	9.27e-05	0.0001	0.0001	0.0001	0	6.548e-05	0	0	0.0002	0	0.0002	0	0	0.004	0.65419	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.15	0.29295	L	2.12	0.19726	T	-1.27	0.31981	N	0.046	0.01825	-1.0458	0.15592	T	0.061	0.25346	T	9	0.023566425	0.00620	T	0.00192	0.03404	T	0.172	0.43662	.	.	0.043077524339	0.03247	0.4173206370271223	0.41648	.	.	0.227280288935	0.01773	T	0.020925	0.16390	T	-0.519797	0.00441	T	-0.688237	0.06492	T	0.0274839638641892	0.01613	T	0.121888	0.00944	T	0.018984336	0.00423	0.040654402	0.04443	0.018984336	0.00423	0.040654402	0.04442	-8.318	0.63216	D	.	.	0.092	0.13362	B	.	.	0.501121	0.08704	5.475	0.87642524943625444	0.17375	0.02575	0.07122	N	AEFI	0.075209	0.15097	N	-0.795223544554479	0.13434	0.6617575	-1.09277455287446	0.07841	0.3830716	2.51284719017043E-5	0.03498	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	1.62	-2.84	0.05408	-0.334000	0.07927	-7.888000	0.01067	-1.461000	0.01082	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2364:0.354:0.234:0.1755	0.670	0.00803	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	.	.	.	.	.	.	.	.	0.02632	2935.33	90	chr11	1247925	.	C	T	2935.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.34;DP=1328;ExcessHet=0;FS=0.988;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=49.76;MQRankSum=-12.83;QD=12.28;ReadPosRankSum=2.32;SOR=0.763	GT:AD:DP:GQ:PL	0/1:114,125:239:99:2949,0,2713	18	0	1	0
chr11	1295794	1295794	C	T	exonic	TOLLIP	.	nonsynonymous SNV	TOLLIP:NM_001318515:exon2:c.G34A:p.V12M,TOLLIP:NM_001318516:exon2:c.G34A:p.V12M,TOLLIP:NM_019009:exon2:c.G34A:p.V12M	.	.	.	.	.	.	.	.	0.9997	0.876	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.273	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.126e-07	2.736e-06	1.406e-06	0	9.258e-07	0	0	.	.	0	0	0	0	0	0	9.258e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.91255	D	0.006	0.92824	D	1.0	0.90584	D	0.98	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.695	0.78878	M	0.33	0.58323	T	-2.01	0.56945	N	0.913	0.91505	-0.1910	0.77903	T	0.416	0.76279	T	10	0.7790391	0.77699	D	0.049025	0.63632	D	0.273	0.58883	0.42	0.46200	0.629531678278	0.62650	0.5130900843511665	0.51231	1.31905736023	0.83405	0.914379060268	0.97866	D	0.394351	0.75352	T	0.163373	0.70513	D	-0.0031031	0.70135	D	0.928876996040344	0.59259	D	0.943306	0.78595	D	0.2957856	0.52524	0.25867346	0.51603	0.2957856	0.52524	0.25867346	0.51602	-5.042	0.37293	T	.	.	0.872	0.81011	P	.;.;.	.;.;.	5.281786	0.88686	29.7	0.99861211159532992	0.94002	0.98139	0.79933	D	AEFBI	0.939458	0.94008	D	0.749623017220088	0.82880	7.87345	0.696196806919278	0.82090	7.681627	0.999999999999617	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.6	5.6	0.84997	7.544000	0.81063	7.435000	0.58824	0.524000	0.24156	1.000000	0.71638	1.000000	0.68203	0.406000	0.26916	0.0:1.0:0.0:0.0	19.599	0.95546	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	.	.	.	.	.	.	.	.	0.02632	797.33	36	chr11	1295794	.	C	T	797.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.929;DP=689;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.24;ReadPosRankSum=-0.732;SOR=0.598	GT:AD:DP:GQ:PL	0/1:26,30:56:99:811,0,673	18	0	1	0
chr11	3038130	3038130	C	A	exonic	CARS1	.	nonsynonymous SNV	CARS1:NM_001378140:exon4:c.G196T:p.A66S,CARS1:NM_001378137:exon6:c.G442T:p.A148S,CARS1:NM_001378138:exon6:c.G442T:p.A148S,CARS1:NM_001751:exon6:c.G472T:p.A158S,CARS1:NM_139273:exon6:c.G472T:p.A158S,CARS1:NM_001014437:exon7:c.G721T:p.A241S,CARS1:NM_001194997:exon7:c.G721T:p.A241S,CARS1:NM_001378136:exon7:c.G511T:p.A171S,CARS1:NM_001378139:exon7:c.G442T:p.A148S	.	434	1016	66	6	0	78	0.0369668	.	.	.	701727	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.068	.	0.0078	0.00738818	0.0099	0.0014	0.0065	0.0001	0.0030	0.0104	0.0187	0.0228	0.0095212	1472	154602	rs12796489	0.0100	0.0100	0.0094	0.0106	0.0394	0.0099	0.0098	0.0352	0.0335	0.0017	0.0067	0.0121	7.557e-05	0.0040	0.0394	0.0097	0.0110	0.0239	0.0076	0.0076	0.0076	0.0076	0.0232	0.0072	0.0071	0.0197	0.0184	0.0017	0	0.0102	0.0110	0	0.0033	0.0408	0.0105	0.0099	0.0232	0.643	0.04957	T	0.52	0.10465	T	0.003	0.12996	B	0.015	0.20792	B	0.001760	0.38106	N	0.256618	1	0.08975	N	0.325	0.10370	N	0.94	0.43672	T	0.24	0.04533	N	0.146	0.15609	-1.0238	0.22476	T	0.042	0.18035	T	10	0.0089785755	0.00203	T	.	.	.	0.068	0.19811	.	.	0.268211541103	0.26431	0.41422578982597624	0.41338	0.231550034422	0.25707	0.272399067879	0.06456	T	0.065227	0.32635	T	-0.664305	0.00059	T	-0.709419	0.05325	T	0.000694211314457137	0.00006	T	.	.	.	0.05427984	0.10392	0.04404145	0.05617	0.05427984	0.10391	0.04404145	0.05616	-4.286	0.27980	T	.	.	0.080	0.09530	B	.;.;.;.	.;.;.;.	-0.223372	0.02973	0.443	0.88549503278566	0.18065	0.25720	0.22782	N	AEFGBCI	0.105898	0.21146	N	-1.04813854451331	0.07624	0.354797	-1.07389750514943	0.08216	0.4030183	0.999994626051788	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	3.86	1.89	0.24700	0.330000	0.19460	-0.382000	0.09534	0.599000	0.40250	0.003000	0.16062	0.000000	0.08366	0.001000	0.02609	0.1906:0.7114:0.0:0.098	6.191	0.19738	884	0.28482	.;tRNA synthetases class I, catalytic domain|tRNA synthetases class I, catalytic domain;.;tRNA synthetases class I, catalytic domain|tRNA synthetases class I, 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	1	0	0.024673	0.020202	0.021739	0.023392	0.000000	0.025862	0.024390	0.037879	0.02632	1874.33	34	chr11	3038130	.	C	A	1874.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.353;DP=771;ExcessHet=0;FS=0.647;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.99;ReadPosRankSum=-0.62;SOR=0.616	GT:AD:DP:GQ:PL	0/1:55,79:134:99:1888,0,1177	18	0	1	0
chr11	6465676	6465676	C	T	exonic	TRIM3	.	nonsynonymous SNV	TRIM3:NM_001248006:exon2:c.G20A:p.S7N,TRIM3:NM_033278:exon2:c.G20A:p.S7N,TRIM3:NM_006458:exon3:c.G20A:p.S7N	.	.	.	.	.	.	.	.	.	.	.	2333233	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.125	0.0510013124813	.	.	1.649e-05	0	0	0	0	3.001e-05	0	0	1.94e-05	3	154602	rs760030045	2.189e-05	2.189e-05	2.042e-05	2.338e-05	0.0003	1.584e-05	1.356e-05	6.101e-05	2.525e-05	2.987e-05	0	0	2.519e-05	0	0.0003	1.978e-05	9.934e-05	0	1.314e-05	1.313e-05	1.285e-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	0.076	0.34269	T	0.045	0.49390	D	0.608	0.39540	P	0.202	0.36942	B	0.000000	0.84330	D	0.046505	0.997608	0.81001	D	1.52	0.38360	L	-0.58	0.71425	T	-0.31	0.14193	N	0.354	0.39558	-0.7343	0.58745	T	0.252	0.62131	T	10	0.13463455	0.25622	T	0.051001	0.64480	D	0.125	0.34456	0.213	0.13210	0.395143234293	0.39128	0.2881058088068685	0.28723	0.959585307846	0.72951	0.563863396645	0.47812	T	0.146346	0.48391	T	-0.242974	0.14973	T	-0.417664	0.31343	T	0.140170032786381	0.16290	T	0.69953	0.31167	T	0.14651209	0.33536	0.17452511	0.39855	0.14651209	0.33536	0.17452511	0.39854	-6.363	0.49220	T	.	.	0.111	0.24226	B	.;.;.;.;.	.;.;.;.;.	3.408696	0.47274	22.4	0.98818076224964446	0.46736	0.96322	0.68572	D	AEFDBI	0.448582	0.50375	N	-0.0169767015215019	0.41088	2.451429	0.0584714121983124	0.42484	2.570354	0.99758056137403	0.35786	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.77	3.85	0.43556	0.908000	0.28167	6.006000	0.52567	0.537000	0.25018	0.999000	0.42656	1.000000	0.68203	0.999000	0.91618	0.3312:0.6688:0.0:0.0	11.267	0.48347	749	0.51929	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2033.33	33	chr11	6465676	.	C	T	2033.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.482;DP=778;ExcessHet=0;FS=5.311;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.12;ReadPosRankSum=1.08;SOR=1.127	GT:AD:DP:GQ:PL	0/1:66,78:144:99:2047,0,1645	18	0	1	0
chr11	6509171	6509171	G	C	exonic	DNHD1	.	nonsynonymous SNV	DNHD1:NM_173589:exon5:c.G1134C:p.K378N,DNHD1:NM_144666:exon6:c.G1134C:p.K378N	.	432	1088	1	1	0	3	0.00137678	.	.	.	713017	not_provided|DNHD1-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.138	.	7.7e-05	0.0071885	0.0047	0.0003	0.0408	0.0091	0	7.493e-05	0.0011	0.0004	0.0048318	747	154602	rs150652653	0.0016	0.0016	0.0018	0.0014	0.0394	0.0016	0.0015	0.0379	0.0372	0.0002	0.0394	0	0.0104	0	0.0002	1.978e-05	0.0018	0.0005	0.0027	0.0027	0.0024	0.0030	0.0227	0.0025	0.0024	0.0207	0.0199	0.0003	0	0.0227	0	0.0068	0	0	0.0001	0.0024	0.0004	0.057	0.37966	T	0.002	0.79402	D	0.986	0.61523	D	0.722	0.54942	P	0.115118	0.19248	N	0.509864	0.996881	0.22868	N	2.24	0.63355	M	2.57	0.13552	T	-2.63	0.56466	D	0.243	0.38950	-1.0586	0.12108	T	0.044	0.19029	T	10	0.004384488	0.00089	T	.	.	.	0.138	0.37187	0.448	0.50793	0.463672176093	0.45992	0.27803805338936416	0.27716	0.457418743426	0.45377	0.399064719677	0.24938	T	0.013108	0.11397	T	-0.627593	0.00099	T	-0.642854	0.09463	T	0.0506152871380425	0.05607	T	0.451355	0.13876	T	0.1668822	0.37051	0.1364063	0.32633	0.1668822	0.37051	0.1364063	0.32632	-4.69	0.33283	T	.	.	0.320	0.58173	B	.;.;.	.;.;.	3.490497	0.48788	22.7	0.99807025110152459	0.89085	0.61934	0.31630	D	AEFBI	0.045958	0.07577	N	0.276808464476461	0.54975	3.662031	0.210652852126682	0.50438	3.235812	0.0413010854288269	0.14478	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.664235	0.64389	0	.	.	5.49	4.57	0.55860	0.968000	0.28955	5.052000	0.47007	0.669000	0.69127	0.873000	0.30851	1.000000	0.68203	0.966000	0.53164	0.0931:0.1722:0.7348:0.0	7.225	0.25187	458	0.78890	.;.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.02632	2107.33	40	chr11	6509171	.	G	C	2107.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.63;DP=887;ExcessHet=0;FS=2.522;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.64;ReadPosRankSum=0.395;SOR=0.88	GT:AD:DP:GQ:PL	0/1:113,85:198:99:2121,0,2899	18	0	1	0
chr11	6528587	6528587	G	A	exonic	DNHD1	.	nonsynonymous SNV	DNHD1:NM_144666:exon11:c.G1903A:p.D635N	.	.	.	.	.	.	.	.	.	.	.	2333220	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.014	0.00589137538446	.	.	0.0002	0	0	0	0	0.0001	0	0.0003	2.59e-05	4	154602	rs551218756	2.358e-05	2.257e-05	2.256e-05	2.463e-05	0.0004	1.682e-05	1.48e-05	6.163e-05	2.548e-05	0	0	0	5.596e-05	0	0.0004	1.761e-05	0.0001	5.048e-05	1.314e-05	1.313e-05	1.284e-05	1.345e-05	2.939e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0	0.018	0.50676	D	0.002	0.79402	D	0.002	0.09854	B	0.001	0.04355	B	.	.	.	.	0.999998	0.08975	N	0.55	0.14455	N	1.56	0.29602	T	-0.93	0.24898	N	0.124	0.17691	-0.9884	0.33002	T	0.036	0.15422	T	9	0.03688374	0.02010	T	0.005891	0.15340	T	0.014	0.01968	0.311	0.28451	0.203808441222	0.19973	0.15002867267085607	0.14924	0.114201077059	0.12879	0.373969167471	0.21399	T	0.005512	0.04962	T	-0.532397	0.00372	T	-0.798928	0.01929	T	0.0196146665475892	0.00664	T	0.453455	0.12891	T	0.05256064	0.09821	0.046551246	0.06513	0.05256064	0.09821	0.046551246	0.06512	-3.842	0.21433	T	.	.	0.099	0.16713	B	.;.	.;.	0.442645	0.08128	4.858	0.96207198042240472	0.29044	0.07017	0.13043	N	AEFBCI	0.029839	0.02891	N	-1.48997834601659	0.01920	0.08427622	-1.48428780841538	0.02473	0.1137875	0.0748348330364755	0.15678	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.491896	0.07777	0	.	.	5.47	-1.0	0.09675	-0.218000	0.09246	1.033000	0.23495	-0.820000	0.02968	0.009000	0.18154	0.291000	0.24165	0.146000	0.20164	0.316:0.0:0.4078:0.2762	3.508	0.07258	452	0.79239	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1775.33	89	chr11	6528587	.	G	A	1775.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.307;DP=1437;ExcessHet=0;FS=1.602;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.14;ReadPosRankSum=-0.177;SOR=0.871	GT:AD:DP:GQ:PL	0/1:40,70:110:99:1789,0,837	18	0	1	0
chr11	6564079	6564079	G	C	exonic	DNHD1	.	nonsynonymous SNV	DNHD1:NM_144666:exon31:c.G10239C:p.K3413N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.246	0.037918526582	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.236	0.17940	T	0.0	0.92824	D	0.922	0.51142	P	0.583	0.50264	P	.	.	.	.	0.966659	0.25884	N	2.015	0.55033	M	-0.82	0.74053	T	-1.07	0.27876	N	0.325	0.41162	-0.7361	0.58653	T	0.305	0.67547	T	9	0.36649692	0.53143	T	0.037919	0.57909	D	0.246	0.55340	0.518	0.61915	0.707650254962	0.70510	0.38322019556356207	0.38237	0.532401565123	0.50703	0.379581391811	0.22198	T	0.064	0.32320	T	-0.08036	0.39657	T	-0.353208	0.38837	T	0.574073241482542	0.35391	D	0.510949	0.16331	T	0.27499932	0.50564	0.25137228	0.50747	0.27499932	0.50564	0.25137228	0.50746	-4.843	0.35088	T	.	.	0.412	0.60243	A	.;.	.;.	2.357286	0.30230	18.37	0.98888292569358716	0.47948	0.86877	0.46256	D	AEFDBI	0.133163	0.25273	N	0.0924144595753655	0.46109	2.856479	0.0938492095698804	0.44239	2.709482	0.999997307219467	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	4.27	4.27	0.50009	2.194000	0.42301	0.078000	0.14353	0.618000	0.50648	0.991000	0.37257	0.003000	0.18671	0.944000	0.48669	0.0:0.0:1.0:0.0	12.045	0.52771	425	0.81160	Dynein heavy chain, coiled coil stalk;Dynein heavy chain, coiled coil stalk	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	563.21	93	chr11	6564079	.	G	C	563.21	.	AC=6;AF=0.2;AN=30;BaseQRankSum=-2.147;DP=1498;ExcessHet=2.0135;FS=208.676;InbreedingCoeff=-0.265;MLEAC=7;MLEAF=0.233;MQ=60;MQRankSum=0;QD=1.23;ReadPosRankSum=1.38;SOR=11.704	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:55,27:95:99:.:.:164,0,1044:.	9	0	6	4
chr11	6640913	6640913	G	T	exonic	DCHS1	.	nonsynonymous SNV	DCHS1:NM_003737:exon2:c.C701A:p.P234H	Mitral valve prolapse 2, Autosomal dominant;Van Maldergem syndrome 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	3047080	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.288	0.0374535305366	.	.	0.0001	0	0.0007	0.0002	0	1.499e-05	0	0.0002	9.06e-05	14	154602	rs149022037	3.557e-05	3.557e-05	3.539e-05	3.576e-05	0.0005	2.763e-05	2.501e-05	0.0003	0.0002	0	0.0003	0	0.0005	0	0	7.195e-06	0.0001	4.637e-05	4.595e-05	4.592e-05	2.568e-05	6.713e-05	0.0008	2.107e-05	1.526e-05	0.0003	0.0002	0	0	0	0	0.0008	0	0	2.94e-05	0	0.0002	0.014	0.53172	D	0.017	0.60337	D	1.0	0.90584	D	0.999	0.92359	D	0.000300	0.46274	D	0.000000	1	0.08975	N	3.085	0.87354	M	0.42	0.56937	T	-4.95	0.81910	D	0.581	0.60241	-0.6747	0.61616	T	0.335	0.70190	T	10	0.6524482	0.69681	D	0.037454	0.57627	D	0.288	0.60691	0.557	0.67547	0.625953378006	0.62290	0.40478155930690163	0.40394	1.03631145464	0.75617	0.511655688286	0.40453	T	0.453009	0.79312	T	-0.308736	0.07859	T	-0.370736	0.36803	T	0.658119380474091	0.38813	D	0.90391	0.66280	D	0.26849183	0.49921	0.3535459	0.60914	0.26849183	0.49921	0.3535459	0.60913	-10.54	0.77077	D	.	.	0.446	0.62008	A	.	.	4.488748	0.70096	25.5	0.99315859052306765	0.59204	0.63345	0.32060	D	AEFBI	0.107892	0.21481	N	0.40225378578022	0.61548	4.357241	0.244721679764576	0.52349	3.410397	0.998718203792133	0.37518	0.706548	0.73137	0	0.588066	0.40923	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.71	3.72	0.41857	2.511000	0.45137	11.771000	0.95863	0.665000	0.62972	0.995000	0.38783	1.000000	0.68203	0.176000	0.21171	0.0:0.0:0.8381:0.1619	13.003	0.58090	210	0.91826	Cadherin-like|Cadherin-like	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	2214.33	36	chr11	6640913	.	G	T	2214.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.198;DP=811;ExcessHet=0;FS=0.575;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.34;ReadPosRankSum=-0.04;SOR=0.793	GT:AD:DP:GQ:PL	0/1:83,83:166:99:2228,0,2219	18	0	1	0
chr11	6956103	6956103	A	G	exonic	ZNF215	.	nonsynonymous SNV	ZNF215:NM_001354858:exon5:c.A412G:p.M138V,ZNF215:NM_001354859:exon5:c.A412G:p.M138V,ZNF215:NM_001354860:exon5:c.A412G:p.M138V,ZNF215:NM_001354855:exon6:c.A448G:p.M150V,ZNF215:NM_001354856:exon6:c.A448G:p.M150V,ZNF215:NM_001354857:exon6:c.A448G:p.M150V,ZNF215:NM_001354853:exon7:c.A1126G:p.M376V,ZNF215:NM_013250:exon7:c.A1126G:p.M376V	.	419	1099	4	0	0	4	0.00181653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	.	0.0003	0.00519169	0.0040	9.656e-05	8.661e-05	0.0237	0.0174	0.0016	0.0055	0.0033	0.0035446	548	154602	rs2239729	0.0026	0.0027	0.0026	0.0027	0.0346	0.0026	0.0026	0.0331	0.0325	0.0001	0.0002	3.83e-05	0.0346	0.0182	0.0005	0.0009	0.0027	0.0035	0.0029	0.0029	0.0021	0.0037	0.0245	0.0026	0.0025	0.0210	0.0197	0.0002	0	6.535e-05	0	0.0245	0.0184	0	0.0012	0.0014	0.0041	0.085	0.32769	T	0.115	0.36630	T	0.0	0.02946	B	0.001	0.04355	B	0.350651	0.04243	N	1.448750	1	0.08975	N	-0.85	0.01485	N	2.53	0.14038	T	-0.39	0.13611	N	0.052	0.02366	-0.9705	0.37094	T	0.005	0.01725	T	10	0.0028256178	0.00045	T	.	.	.	0.098	0.28162	.	.	0.280987212366	0.27714	0.039911253394663275	0.03937	0.00586797181239	0.00512	0.231435328722	0.02076	T	0.017832	0.14480	T	-0.747826	0.00018	T	-0.828723	0.01285	T	0.00702114931139699	0.00080	T	0.327667	0.06803	T	0.077837504	0.17690	0.13477744	0.32287	0.077837504	0.17689	0.13477744	0.32286	-1.505	0.01774	T	.	.	0.117	0.23744	B	.;.	.;.	0.221590	0.06040	2.481	0.37945504598235441	0.02530	0.00201	0.01154	N	AEFBI	0.035628	0.04618	N	-1.42548560462882	0.02416	0.1066805	-1.41076278666316	0.03144	0.1460692	0.981728251604013	0.30302	0.651	0.46895	0	0.588015	0.36545	0	0.65145	0.50148	0	0.567892	0.33627	0	.	.	4.67	-5.47	0.02396	1.856000	0.39028	-0.733000	0.07653	-0.598000	0.04625	0.217000	0.24502	0.000000	0.08366	0.485000	0.28678	0.2015:0.0:0.7985:0.0	16.724	0.85277	769	0.49307	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002518	0.000000	0.000000	0.000000	0.000000	0.000000	0.015244	0.000000	0.02632	1869.33	34	chr11	6956103	.	A	G	1869.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.157;DP=853;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.63;ReadPosRankSum=-1.474;SOR=0.685	GT:AD:DP:GQ:PL	0/1:72,76:148:99:1883,0,1742	18	0	1	0
chr11	7961127	7961127	G	A	exonic	NLRP10	.	nonsynonymous SNV	NLRP10:NM_176821:exon2:c.C485T:p.P162L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.190	0.0708000829005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	2.722e-06	0	5.038e-05	2.3e-07	9e-08	8.35e-06	3.12e-06	0	0	0	5.038e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.401	0.10447	T	0.099	0.38891	T	0.243	0.30970	B	0.119	0.32162	B	0.547706	0.11469	N	0.714096	1	0.08975	N	0.895	0.22405	L	-1.28	0.79376	T	-1.52	0.36980	N	0.095	0.07535	-0.7933	0.55537	T	0.306	0.67676	T	10	0.09202269	0.16170	T	0.071	0.71100	D	0.190	0.46781	0.347	0.34274	0.623514155702	0.62045	0.2106899142293152	0.20984	0.100047662187	0.11309	0.261552780867	0.05077	T	0.011276	0.10082	T	-0.180279	0.23694	T	-0.496735	0.22686	T	0.224843298979359	0.21703	T	.	.	.	0.048830565	0.08572	0.05272348	0.08743	0.048830565	0.08572	0.05272348	0.08742	-4.68	0.33161	T	.	.	0.086	0.10931	B	.	.	1.299663	0.17012	12.91	0.2549260800749355	0.01178	0.21630	0.21469	N	AEFBI	0.052289	0.09320	N	-0.585147996824001	0.19395	1.014731	-0.579033268388869	0.20039	1.077934	0.998464199212227	0.37014	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.07	4.09	0.47038	1.467000	0.34930	2.231000	0.31532	0.676000	0.76740	0.005000	0.17040	0.034000	0.21380	0.042000	0.14466	0.0:0.1889:0.8111:0.0	10.978	0.46694	744	0.52588	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05263	5514.81	37	chr11	7961127	.	G	A	5514.81	.	AC=2;AF=0.053;AN=38;DP=830;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=30.81;SOR=0.727	GT:AD:DP:GQ:PL	1/1:0,179:179:99:5542,537,0	18	1	0	0
chr11	17372319	17372319	C	T	exonic	NCR3LG1	.	nonsynonymous SNV	NCR3LG1:NM_001202439:exon5:c.C1172T:p.T391I	.	425	1083	12	2	0	16	0.00733272	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.00488030005192	.	0.00119808	0.0037	0	0	0	0	0.0007	0.0054	0.0064	0.000511	79	154602	rs370381456	0.0010	0.0009	0.0007	0.0013	0.0056	0.0010	0.0009	0.0051	0.0049	6.327e-05	0.0005	0.0004	0	0	0.0029	0.0005	0.0010	0.0056	0.0005	0.0005	0.0004	0.0006	0.0064	0.0004	0.0004	0.0047	0.0040	2.406e-05	0.0110	0.0007	0	0	0	0.0034	0.0003	0.0009	0.0064	0.003	0.68238	D	0.016	0.60972	D	0.777	0.44168	P	0.346	0.42645	B	.	.	.	.	1	0.08975	N	-0.345	0.03330	N	5.6	0.00825	T	-0.58	0.17417	N	0.138	0.13626	-0.8411	0.52573	T	0.002	0.00707	T	8	0.0047205687	0.00099	T	0.00488	0.12255	T	0.022	0.04323	.	.	0.0401082797425	0.02173	0.14448512897661686	0.14371	.	.	0.587070822716	0.51081	T	0.018194	0.14708	T	-0.655287	0.00067	T	-0.711994	0.05193	T	0.0249316378608299	0.01264	T	.	.	.	0.10815722	0.25573	0.20119202	0.44087	0.10815722	0.25572	0.20119202	0.44086	-4.463	0.30401	T	.	.	0.173	0.37951	B	.	.	1.472394	0.18966	14.02	0.9660618329911157	0.30427	0.00209	0.01192	N	AEFBCI	0.027949	0.02374	N	-0.857621318209045	0.11863	0.574894	-1.03484384613952	0.09025	0.4467794	0.0637070176356901	0.15305	0.562547	0.31514	0	0.610034	0.51514	0	0.618467	0.43123	0	0.635551	0.53088	0	.	.	0.109	0.109	0.13884	0.204000	0.17133	0.469000	0.18693	0.234000	0.18175	0.137000	0.23458	0.499000	0.25194	0.164000	0.20782	.	.	.	586	0.69252	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005236	0.000000	0.007576	0.000000	0.000000	0.000000	0.011628	0.026316	0.02632	2803.33	77	chr11	17372319	.	C	T	2803.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.065;DP=1138;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.16;ReadPosRankSum=0.711;SOR=0.678	GT:AD:DP:GQ:PL	0/1:107,106:213:99:2817,0,2857	18	0	1	0
chr11	18706913	18706913	C	T	splicing	IGSF22	NM_173588:exon21:c.3580+1G>A	.	.	.	.	.	.	.	.	.	.	1.0000	0.842	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1351937356	1.333e-05	1.368e-05	5.784e-06	2.125e-05	0.0003	8.33e-06	6.87e-06	0.0002	0.0001	0	0	0	0	0	0	0	0	0.0003	6.569e-06	6.566e-06	1.284e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0189029	0.49010	T	-0.00988331	0.69693	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.694043	0.75243	26.3	0.99227538228731671	0.56120	0.86455	0.45739	D	ALL	.	.	.	0.783630036272863	0.85071	8.468231	0.530041781361945	0.70023	5.444297	0.999999999855861	0.74766	0.162408	0.03677	1	0.102296	0.03086	2	0.10224	0.03073	0	0.166187	0.04126	0	0.968944	0.71292	3.77	3.77	0.42499	4.544000	0.60401	2.779000	0.34722	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.288000	0.24212	0.0:1.0:0.0:0.0	13.889	0.63231	819	0.41190	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	940.33	33	chr11	18706913	.	C	T	940.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.87;DP=686;ExcessHet=0;FS=5.252;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.17;ReadPosRankSum=0.524;SOR=1.391	GT:AD:DP:GQ:PL	0/1:28,34:62:99:954,0,637	18	0	1	0
chr11	35222374	35222374	G	A	splicing	CD44	NM_001202557:exon9:c.882-1G>A	.	.	.	421	1071	28	2	0	32	0.0147194	0.0001	0.004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00459265	0.0096	0.0022	0.0103	0	0.0049	0.0066	0.0097	0.0141	0.0024838	384	154602	rs140184039	0.0118	0.0097	0.0118	0.0119	0.0139	0.0117	0.0116	0.0132	0.0129	0.0020	0.0036	0.0030	7.942e-05	0.0047	0.0103	0.0127	0.0128	0.0139	0.0067	0.0067	0.0070	0.0065	0.0139	0.0064	0.0063	0.0113	0.0103	0.0020	0.0033	0.0052	0.0023	0.0004	0.0044	0.0136	0.0106	0.0071	0.0139	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.07895	2819.79	35	chr11	35222374	.	G	A	2819.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.114;DP=835;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=10.64;ReadPosRankSum=-0.51;SOR=0.666	GT:AD:DP:GQ:PL	0/1:51,46:97:99:1132,0,1316	16	0	3	0
chr11	36592939	36592939	C	G	exonic	RAG2	.	nonsynonymous SNV	RAG2:NM_000536:exon2:c.G1230C:p.E410D,RAG2:NM_001243785:exon3:c.G1230C:p.E410D,RAG2:NM_001243786:exon3:c.G1230C:p.E410D	Combined cellular and humoral immune defects with granulomas, Autosomal recessive;Omenn syndrome, Autosomal recessive;Severe combined immunodeficiency, B cell-negative, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.724	0.184111845529	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.002	0.79402	D	0.989	0.62824	D	0.977	0.73820	D	0.000000	0.84330	D	0.000000	0.997921	0.44325	D	3.045	0.86684	M	-4.39	0.97394	D	-1.34	0.33401	N	0.61	0.62696	0.981	0.96875	D	0.932	0.97744	D	10	0.74751085	0.75395	D	0.184112	0.85729	D	0.724	0.90280	0.655	0.79276	0.949606292796	0.94907	0.5783541702396763	0.57764	0.416349650705	0.42283	0.691780388355	0.65962	T	0.535211	0.83987	D	0.262356	0.79746	D	0.13908	0.79483	D	0.982266187667847	0.74389	D	0.935806	0.75965	D	0.4970505	0.66921	0.42633614	0.66414	0.4970505	0.66922	0.42633614	0.66414	-3.527	0.16812	T	0.4996836790850691	0.57511	0.344	0.59611	A	.;.	.;.	2.759110	0.36189	20.2	0.99754016305850435	0.84460	0.84979	0.44077	D	AEFBI	0.598256	0.59172	D	0.347464662238875	0.58605	4.033851	0.215856993075376	0.50725	3.261712	0.99959847292894	0.40745	0.497415	0.19182	0	0.59043	0.45803	0	0.408882	0.06424	0	0.530356	0.10902	0	.	.	5.23	-0.634	0.10937	0.385000	0.20413	-0.476000	0.08948	0.599000	0.40250	0.997000	0.40164	0.036000	0.21445	1.000000	0.97212	0.0:0.5159:0.0:0.4841	10.518	0.44088	374	0.84073	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1538	162.23	33	chr11	36592939	.	C	G	162.23	.	AC=4;AF=0.154;AN=26;BaseQRankSum=-4.758;DP=2093;ExcessHet=0.7564;FS=197.593;InbreedingCoeff=-0.2301;MLEAC=5;MLEAF=0.192;MQ=60;MQRankSum=0;QD=0.36;ReadPosRankSum=1.28;SOR=10.175	GT:AD:DP:GQ:PL	0/1:98,21:134:18:18,0,2327	9	0	4	6
chr11	45902506	45902506	C	T	exonic	MAPK8IP1	.	nonsynonymous SNV	MAPK8IP1:NM_005456:exon5:c.C739T:p.P247S	.	413	1095	14	0	0	14	0.00635209	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	.	0.0073	0.00319489	0.0099	0.0030	0.0049	0.0002	0.0210	0.0129	0.0098	0.0075	0.006811	1053	154602	rs117665789	0.0095	0.0095	0.0096	0.0095	0.0107	0.0094	0.0093	0.0106	0.0105	0.0016	0.0049	0.0016	0.0001	0.0100	0.0036	0.0107	0.0083	0.0071	0.0069	0.0069	0.0070	0.0068	0.0101	0.0065	0.0064	0.0095	0.0092	0.0022	0.0209	0.0058	0.0020	0	0.0104	0	0.0101	0.0076	0.0058	0.031	0.45039	D	0.616	0.09795	T	0.816	0.45573	P	0.245	0.38823	B	0.000011	0.62929	D	0.065445	0.998496	0.44993	D	1.32	0.33002	L	1.24	0.36691	T	-0.62	0.18248	N	0.343	0.42050	-1.1029	0.03758	T	0.044	0.19111	T	10	0.004411131	0.00090	T	.	.	.	0.117	0.32689	.	.	0.368021343446	0.36418	0.1638190692086197	0.16301	1.23262236702	0.81394	0.584953010082	0.50783	T	0.250764	0.62091	T	-0.541355	0.00329	T	-0.541	0.18198	T	0.0128702646338869	0.00220	T	0.693531	0.30321	T	0.11472272	0.27081	0.11416077	0.27556	0.10529684	0.24894	0.11416077	0.27556	-4.158	0.26141	T	.	.	0.081	0.08033	B	.;.	.;.	3.150523	0.42647	21.6	0.99693363987309003	0.80112	0.65112	0.32629	D	AEFBCI	0.496552	0.53145	N	-0.0136159726570341	0.41238	2.463142	0.0303879258557061	0.41132	2.466171	0.998126188882572	0.36460	0.695654	0.57023	0	0.550933	0.16991	0	0.723109	0.80598	0	0.604944	0.38103	0	.	.	4.51	4.51	0.54589	4.404000	0.59494	5.809000	0.49993	0.599000	0.40250	0.974000	0.34632	1.000000	0.68203	0.823000	0.38780	0.0:1.0:0.0:0.0	17.771	0.88403	461	0.78683	.;.	.	.	.	.	rs117665789	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	0.002022	0.000000	0.000000	0.002924	0.000000	0.008621	0.000000	0.007576	0.05263	3542.83	35	chr11	45902506	.	C	T	3542.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.801;DP=915;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.89;ReadPosRankSum=0.171;SOR=0.67	GT:AD:DP:GQ:PL	0/1:83,76:159:99:1913,0,2187	17	0	2	0
chr11	47584332	47584332	G	C	exonic	NDUFS3	.	nonsynonymous SNV	NDUFS3:NM_004551:exon7:c.G646C:p.V216L	Leigh syndrome due to mitochondrial complex I deficiency, Autosomal recessive, Mitochondrial;Mitochondrial complex I deficiency, Autosomal recessive, X-linked dominant, Mitochondrial	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.372	0.0350321696625	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0034	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	4.475e-05	3.845e-05	0	0	0.0002	0.0002	0.0001	9.318e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.783	0.03262	T	0.593	0.08134	T	0.004	0.12183	B	0.009	0.14300	B	0.000000	0.84330	D	0.052661	1	0.81001	D	0.54	0.13725	N	-1.0	0.76037	T	-0.51	0.15986	N	0.109	0.09490	-0.8237	0.53702	T	0.214	0.57586	T	10	0.21773726	0.38394	T	0.035032	0.56079	D	0.372	0.69102	0.312	0.28612	0.820884894196	0.81919	0.4530228563642822	0.45220	0.297120083394	0.32095	0.764023125172	0.76529	T	0.151429	0.49137	T	-0.0315146	0.47197	T	-0.283045	0.46490	T	0.776293694972992	0.44821	D	.	.	.	0.2676909	0.49841	0.20849794	0.45154	0.2676909	0.49841	0.20849794	0.45153	-2.162	0.03860	T	.	.	0.187	0.40360	B	.	.	2.544374	0.32919	19.19	0.96720140085668693	0.30847	0.95990	0.67036	D	AEFDGBCI	0.888539	0.82176	D	-0.185157986660485	0.33751	1.918463	0.0633119293219945	0.42721	2.588866	0.999999621208179	0.74766	0.719381	0.83141	0	0.723133	0.82719	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.85	5.85	0.93663	5.095000	0.64363	8.715000	0.78146	-0.120000	0.14102	1.000000	0.71638	1.000000	0.68203	0.210000	0.22183	0.0:0.0:1.0:0.0	20.177	0.98187	10	0.99061	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05556	360.58	38	chr11	47584332	.	G	C	360.58	.	AC=2;AF=0.056;AN=36;BaseQRankSum=-4.136;DP=928;ExcessHet=0.119;FS=424.778;InbreedingCoeff=-0.0704;MLEAC=2;MLEAF=0.056;MQ=60;MQRankSum=0;QD=1.6;ReadPosRankSum=-0.75;SOR=7.742	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:89,30:119:99:0|1:47584332_G_C:328,0,2681:47584332	16	0	2	1
chr11	49981809	49981809	C	G	exonic	OR4C12	.	nonsynonymous SNV	OR4C12:NM_001005270:exon1:c.G693C:p.R231S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.00101041932848	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.375e-06	7.527e-06	1.367e-06	1.382e-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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.004	0.74150	D	0.319	0.32965	B	0.513	0.47989	P	0.000281	0.46590	U	0.000000	0.999892	0.19781	N	3.385	0.91502	M	8.15	0.00286	T	-5.47	0.85617	D	0.443	0.48134	-1.0201	0.23682	T	0.001	0.00467	T	10	0.2346729	0.40512	T	0.00101	0.01096	T	0.082	0.23913	0.546	0.66015	0.208816687407	0.20498	0.25538346230412046	0.25452	0.0143582820659	0.01365	0.280902445316	0.07618	T	0.00991	0.08988	T	-0.164013	0.26145	T	-0.47337	0.25154	T	0.979287505149841	0.72753	D	.	.	.	0.73349935	0.79921	0.5844385	0.75904	0.73349935	0.79923	0.5844385	0.75904	-7.463	0.57350	T	.	.	0.227	0.45966	B	.	.	2.022533	0.25704	16.86	0.99082414752547343	0.52002	0.03228	0.08240	N	AEFI	0.047257	0.07937	N	-0.277187101321075	0.30032	1.670798	-0.409429265658249	0.24720	1.355288	1.23947310401179E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.98	1.05	0.19280	-1.007000	0.03777	.	.	0.260000	0.18395	0.000000	0.06391	0.000000	0.08366	0.024000	0.12247	0.0:0.574:0.0:0.426	4.568	0.11590	224	0.91330	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	.	.	.	.	.	.	.	.	0.08824	103.77	102	chr11	49981809	.	C	G	103.77	.	AC=3;AF=0.088;AN=34;BaseQRankSum=-2.788;DP=1506;ExcessHet=0.3672;FS=171.973;InbreedingCoeff=-0.1206;MLEAC=3;MLEAF=0.088;MQ=59.99;MQRankSum=0;QD=0.38;ReadPosRankSum=2.6;SOR=9.592	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:71,19:90:97:0|1:49981809_C_G:97,0,2028:49981809	14	0	3	2
chr11	56375950	56375950	A	0	exonic	OR8U1;OR8U8	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4211	775.27	278	chr11	56375950	.	A	*	775.27	.	AC=16;AF=0.421;AN=38;BaseQRankSum=5.68;DP=4836;ExcessHet=38.2876;FS=6.913;InbreedingCoeff=-0.9009;MLEAC=16;MLEAF=0.421;MQ=59.99;MQRankSum=0;QD=0.17;ReadPosRankSum=0.109;SOR=1.269	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:218,44:262:99:0|1:56375918_A_G:1191,0,9021:56375918	3	0	16	0
chr11	56375951	56375951	T	0	exonic	OR8U1;OR8U8	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4444	490.26	278	chr11	56375951	.	T	*	490.26	.	AC=16;AF=0.444;AN=36;BaseQRankSum=4.1;DP=4828;ExcessHet=38.2876;FS=6.951;InbreedingCoeff=-0.9487;MLEAC=16;MLEAF=0.444;MQ=59.99;MQRankSum=0;QD=0.11;ReadPosRankSum=0.061;SOR=1.245	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:218,44:262:99:0|1:56375918_A_G:1191,0,9021:56375918	2	0	16	1
chr11	56375953	56375953	A	0	exonic	OR8U1;OR8U8	.	.	.	.	429	642	47	0	404	451	0.0353118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4444	797.75	278	chr11	56375953	.	A	*	797.75	.	AC=16;AF=0.444;AN=36;BaseQRankSum=3.15;DP=4825;ExcessHet=38.2876;FS=6.913;InbreedingCoeff=-0.9487;MLEAC=16;MLEAF=0.444;MQ=59.99;MQRankSum=0;QD=0.18;ReadPosRankSum=0.371;SOR=1.28	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:218,44:262:99:0|1:56375918_A_G:1191,0,9021:56375918	2	0	16	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	.	.	.	.	.	.	.	.	0.1111	476.1	34	chr11	56412815	.	A	G	476.1	.	AC=4;AF=0.111;AN=36;BaseQRankSum=-3.211;DP=2251;ExcessHet=0.7564;FS=90.684;InbreedingCoeff=-0.1374;MLEAC=4;MLEAF=0.111;MQ=60;MQRankSum=0;QD=0.88;ReadPosRankSum=1.61;SOR=10.773	GT:AD:DP:GQ:PL	0/1:96,25:121:39:39,0,2422	14	0	4	1
chr11	60927744	60927744	G	A	exonic	TMEM132A	.	nonsynonymous SNV	TMEM132A:NM_017870:exon3:c.G419A:p.R140Q,TMEM132A:NM_178031:exon3:c.G419A:p.R140Q	.	426	1085	9	2	0	13	0.00595511	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.213	0.00960284979792	0.0003	0.000998403	0.0010	0	0.0011	0	0.0002	0.0007	0.0011	0.0031	0.0008732	135	154602	rs139246153	0.0008	0.0008	0.0007	0.0008	0.0038	0.0007	0.0007	0.0028	0.0027	0.0003	0.0013	0.0015	5.038e-05	0.0002	0.0038	0.0006	0.0010	0.0031	0.0008	0.0008	0.0007	0.0009	0.0033	0.0007	0.0006	0.0025	0.0023	9.623e-05	0	0.0033	0.0009	0.0002	0.0003	0.0238	0.0006	0.0024	0.0014	1.0	0.00964	T	0.0	0.92824	D	1.0	0.90584	D	0.996	0.84481	D	0.010746	0.29799	N	0.318283	0.996283	0.43118	D	0.61	0.15665	N	3.55	0.04799	T	0.62	0.02442	N	0.668	0.67650	-0.9804	0.34909	T	0.029	0.12673	T	10	0.029283881	0.01055	T	0.009603	0.25107	T	0.213	0.50496	.	.	0.670028505835	0.66724	0.5478189669724598	0.54707	0.954603995865	0.72758	0.689669430256	0.65658	T	0.005605	0.05051	T	-0.354254	0.04466	T	-0.284374	0.46355	T	0.0543537436849356	0.06249	T	0.891311	0.62583	D	0.056476742	0.11115	0.07006294	0.14840	0.056476742	0.11115	0.07006294	0.14840	-6.368	0.49260	T	.	.	0.164	0.37876	B	.;.	.;.	3.869591	0.56167	23.7	0.98918086380107595	0.48509	0.91272	0.53200	D	AEFDBI	0.390837	0.46951	N	0.366950004387918	0.59640	4.145119	0.37684655332523	0.60142	4.198458	0.999999998875274	0.74766	0.706548	0.73137	0	0.844039	0.99811	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.97	4.97	0.65419	2.789000	0.47504	8.376000	0.77057	0.676000	0.76740	0.895000	0.31310	1.000000	0.68203	0.541000	0.29961	0.0:0.0:1.0:0.0	16.429	0.83672	598	0.68232	Transmembrane protein TMEM132, 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	0.006546	0.015152	0.002717	0.008772	0.050000	0.000000	0.000000	0.003788	0.02632	1272.33	34	chr11	60927744	.	G	A	1272.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.282;DP=744;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.15;ReadPosRankSum=-1.096;SOR=0.693	GT:AD:DP:GQ:PL	0/1:32,52:84:99:1286,0,702	18	0	1	0
chr11	61740531	61740531	T	C	exonic	DAGLA	.	nonsynonymous SNV	DAGLA:NM_006133:exon18:c.T1922C:p.I641T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.403	0.0197228382319	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.054e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.34095	T	0.015	0.61642	D	0.948	0.53620	P	0.588	0.50402	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.7	0.43825	L	1.82	0.25018	T	-2.3	0.51157	N	0.794	0.79022	-1.0707	0.09260	T	0.080	0.31675	T	10	0.8145296	0.80704	D	0.019723	0.42154	T	0.403	0.71636	0.74	0.87232	0.236619781664	0.23270	0.7000053541781993	0.69941	0.918852446908	0.71372	0.869591116905	0.92510	D	0.336126	0.70567	T	0.210662	0.74892	D	0.0648253	0.74565	D	0.952781975269318	0.63873	D	0.952105	0.81652	D	0.31849626	0.54512	0.2169086	0.46336	0.31849626	0.54512	0.2169086	0.46335	-9.563	0.71251	D	.	.	0.611	0.69337	P	.	.	4.584081	0.72443	25.8	0.99816410860115734	0.89973	0.98810	0.87149	D	AEFBI	0.685886	0.64774	D	0.421747977381816	0.62620	4.480836	0.433105891452527	0.63640	4.601745	0.999999987493739	0.74766	0.67177	0.52595	0	0.55458	0.17659	0	0.702456	0.68683	0	0.683762	0.67416	0	.	.	4.41	4.41	0.52588	6.166000	0.71739	6.033000	0.52942	0.651000	0.53179	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	13.945	0.63586	745	0.52414	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4474	7196.89	114	chr11	61740531	.	T	C	7196.89	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-1.001;DP=1904;ExcessHet=31.086;FS=256.929;InbreedingCoeff=-0.8097;MLEAC=17;MLEAF=0.447;MQ=60;MQRankSum=0;QD=4.37;ReadPosRankSum=0.515;SOR=12.508	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:77,35:112:99:.:.:449,0,1551:.	2	0	17	0
chr11	61743579	61743579	G	A	exonic	DAGLA	.	nonsynonymous SNV	DAGLA:NM_006133:exon20:c.G2219A:p.R740Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.00598784205772	.	.	9.581e-06	0	0	0	0	1.676e-05	0	0	3.84e-05	1	26028	rs746977362	1.353e-05	1.437e-05	1.691e-05	1.008e-05	7.632e-05	8.65e-06	6.97e-06	2.023e-05	1.061e-05	0	0	0	7.632e-05	0	0	1.377e-05	0	1.283e-05	3.285e-05	3.283e-05	3.853e-05	2.69e-05	0.0002	1.261e-05	7.98e-06	1.919e-05	1.032e-05	7.236e-05	0	0	0	0.0002	0	0	1.47e-05	0	0	0.179	0.22053	T	0.492	0.11479	T	0.001	0.07471	B	0.001	0.04355	B	0.008771	0.30676	N	0.128577	0.729101	0.33699	D	0.345	0.11182	N	1.92	0.23082	T	-0.41	0.14000	N	0.06	0.03175	-1.0660	0.10316	T	0.030	0.13067	T	10	0.07115582	0.10452	T	0.005988	0.15638	T	0.017	0.02790	0.218	0.13932	0.123314135267	0.11883	0.2217978647350055	0.22094	0.579767886639	0.53832	0.437670469284	0.30259	T	0.044091	0.26708	T	-0.434997	0.01384	T	-0.681092	0.06918	T	0.212143376469612	0.21065	T	0.835216	0.50504	T	0.07701232	0.17452	0.055452403	0.09729	0.07701232	0.17452	0.055452403	0.09728	-3.647	0.18539	T	.	.	0.069	0.03060	B	.	.	2.793491	0.36723	20.3	0.99522844218999706	0.69346	0.89030	0.49257	D	AEFBI	0.244844	0.36588	N	-0.533394565002725	0.21008	1.111699	-0.426520091031401	0.24223	1.325228	0.936264143512231	0.27247	0.554377	0.28877	0	0.547309	0.14657	0	0.603688	0.36954	0	0.567892	0.33627	0	.	.	3.1	1.19	0.20120	2.089000	0.41297	5.506000	0.48785	0.520000	0.23804	0.999000	0.42656	1.000000	0.68203	0.372000	0.26156	0.4011:0.0:0.5989:0.0	6.802	0.22938	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	.	.	.	.	.	.	.	.	0.02632	1018.33	44	chr11	61743579	.	G	A	1018.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.6;DP=933;ExcessHet=0;FS=3.4;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.43;ReadPosRankSum=0.432;SOR=1.209	GT:AD:DP:GQ:PL	0/1:30,36:66:99:1032,0,782	18	0	1	0
chr11	65125541	65125541	C	G	exonic	MRPL49	.	nonsynonymous SNV	MRPL49:NM_004927:exon3:c.C283G:p.P95A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.362	0.0524215965707	.	.	1.648e-05	0	0	0	0	2.998e-05	0	0	1.29e-05	2	154602	rs775771263	8.209e-06	8.209e-06	1.089e-05	5.5e-06	2.236e-05	4.38e-06	3.46e-06	3.1e-06	2.24e-06	0	2.236e-05	0	0	0	0	7.194e-06	3.312e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.01	0.65728	D	1.0	0.90584	D	0.991	0.79672	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.685	0.78553	M	-1.2	0.78537	T	-7.93	0.96269	D	0.898	0.93370	0.014	0.82535	D	0.507	0.81440	D	10	0.98175645	0.98218	D	0.052422	0.65065	D	0.683	0.88396	0.902	0.97858	0.954069563567	0.95358	0.8056197415821316	0.80516	0.943382254411	0.72301	0.569752931595	0.48643	T	0.398186	0.87160	T	0.325845	0.84880	D	0.337934	0.89833	D	0.947981834411621	0.62798	D	0.920508	0.71260	D	0.89494276	0.90936	0.8357479	0.90559	0.89494276	0.90937	0.8357479	0.90560	-12.493	0.87169	D	.	.	0.830	0.78721	P	.;.	.;.	4.249265	0.64489	24.7	0.99072188393678506	0.51762	0.95676	0.65684	D	AEFBCI	0.843383	0.76042	D	0.456227102958177	0.64557	4.712955	0.457863165587531	0.65224	4.79677	0.99999999999855	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.86	5.86	0.93936	7.177000	0.77194	7.692000	0.65839	0.580000	0.29708	1.000000	0.71638	1.000000	0.68203	0.212000	0.22240	0.0:1.0:0.0:0.0	17.680	0.88144	397	0.82902	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	571.33	36	chr11	65125541	.	C	G	571.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.939;DP=704;ExcessHet=0;FS=0.935;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.83;ReadPosRankSum=-0.618;SOR=0.506	GT:AD:DP:GQ:PL	0/1:45,28:73:99:585,0,1179	18	0	1	0
chr11	66591701	66591701	C	T	exonic	CCDC87	.	nonsynonymous SNV	CCDC87:NM_018219:exon1:c.G1315A:p.V439I	.	426	1094	2	0	0	2	0.000913242	.	.	.	2344668	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.010	0.00320098348409	0.0004	.	0.0004	0	0.0003	0	0	0.0006	0	0.0002	0.0002911	45	154602	rs143106957	0.0004	0.0004	0.0004	0.0004	0.0024	0.0003	0.0003	0.0015	0.0012	8.968e-05	0.0004	3.829e-05	0	0	0.0024	0.0004	0.0005	0.0003	0.0003	0.0003	0.0003	0.0002	0.0005	0.0002	0.0002	0.0004	0.0003	7.217e-05	0	0.0004	0	0	0	0.0034	0.0005	0.0005	0	0.321	0.13522	T	0.22	0.25907	T	0.004	0.12183	B	0.005	0.11217	B	0.468410	0.04912	N	1.398570	1	0.08975	N	1.5	0.37844	L	1.47	0.31987	T	-0.33	0.12472	N	0.066	0.03841	-1.0004	0.29803	T	0.060	0.24981	T	10	0.022217035	0.00549	T	0.003201	0.07026	T	0.010	0.01040	.	.	0.17948927462	0.17512	0.05560351241801656	0.05501	0.111153288707	0.12538	0.290364086628	0.08976	T	0.009059	0.08271	T	-0.600254	0.00145	T	-0.743622	0.03740	T	0.0114834506869783	0.00173	T	0.435056	0.11905	T	0.029857267	0.02551	0.026878115	0.00803	0.029857267	0.02550	0.026878115	0.00803	-4.148	0.25995	T	.	.	0.093	0.13969	B	.	.	0.180545	0.05683	2.129	0.914081289628211	0.20675	0.01163	0.04190	N	AEFBI	0.040218	0.05950	N	-0.863282496923156	0.11724	0.5674002	-0.895363960527544	0.12203	0.6263561	0.999713398045902	0.42101	0.497415	0.19182	0	0.547309	0.14657	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	5.3	-1.72	0.07671	0.100000	0.15067	-0.756000	0.07556	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.555000	0.30293	0.0:0.2971:0.1738:0.5291	5.615	0.16706	61	0.97388	.	.	.	.	.	.	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	0.002924	0.000000	0.000000	0.000000	0.003788	0.02632	1507.33	41	chr11	66591701	.	C	T	1507.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.06;DP=805;ExcessHet=0;FS=0.709;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.46;ReadPosRankSum=2.07;SOR=0.81	GT:AD:DP:GQ:PL	0/1:52,60:112:99:1521,0,1191	18	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	.	.	.	.	.	.	.	.	0.2353	1546.45	121	chr11	66863811	.	C	T	1546.45	.	AC=8;AF=0.235;AN=34;BaseQRankSum=-3.71;DP=1734;ExcessHet=4.0268;FS=173.681;InbreedingCoeff=-0.3104;MLEAC=9;MLEAF=0.265;MQ=60;MQRankSum=0;QD=1.43;ReadPosRankSum=1.63;SOR=11.827	GT:AD:DP:GQ:PL	0/1:109,51:160:95:95,0,1617	9	0	8	2
chr11	71565875	71565875	-	TGTGGGGGCTCCAAGGGAGGCTGTGGCTCCTGTGGGGGCTCCAAGGGGGGCTGTGGTTCT	exonic	KRTAP5-10	.	nonframeshift insertion	KRTAP5-10:NM_001012710:exon1:c.288_289insTGTGGGGGCTCCAAGGGAGGCTGTGGCTCCTGTGGGGGCTCCAAGGGGGGCTGTGGTTCT:p.G138_C139insGSKGGCGSCGGSKGGCGSCG	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	8.36e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	170.29	64	chr11	71565875	.	C	CTGTGGGGGCTCCAAGGGAGGCTGTGGCTCCTGTGGGGGCTCCAAGGGGGGCTGTGGTTCT	170.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0;DP=1305;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.71;MQRankSum=-2.69;QD=12.16;ReadPosRankSum=-0.548;SOR=0.746	GT:AD:DP:GQ:PL	0/1:11,3:14:99:184,0,667	18	0	1	0
chr11	74492211	74492211	T	A	exonic	LIPT2	.	nonsynonymous SNV	LIPT2:NM_001144869:exon2:c.A620T:p.E207V	.	423	1047	49	3	0	55	0.0255933	.	.	.	1604921	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.851	.	0.0018	0.00579073	0.0111	0	0.0049	0	0	0.0051	0.0041	0.0244	0.0021733	336	154602	rs141813641	0.0033	0.0032	0.0027	0.0040	0.0253	0.0032	0.0032	0.0244	0.0240	0.0004	0.0041	0.0149	5.596e-05	0.0003	0.0179	0.0016	0.0052	0.0253	0.0032	0.0032	0.0025	0.0040	0.0247	0.0030	0.0029	0.0211	0.0197	0.0004	0	0.0095	0.0104	0	0.0004	0.0170	0.0022	0.0057	0.0247	0.033	0.44358	D	0.034	0.52727	D	0.949	0.53761	P	0.514	0.48013	P	0.000027	0.55875	D	0.117372	1	0.81001	D	3.005	0.85968	M	-3.96	0.96208	D	-5.5	0.85844	D	0.354	0.39558	0.723	0.93464	D	0.825	0.94111	D	10	0.008795619	0.00199	T	.	.	.	0.851	0.95396	.	.	0.475741759771	0.47203	0.9365910790192148	0.93639	.	.	0.341749250889	0.16700	T	0.148517	0.48710	T	0.00168011	0.51886	T	0.248561	0.85553	D	0.0968409808715536	0.12005	T	0.839416	0.51368	T	0.42203003	0.62227	0.37563127	0.62703	0.42203003	0.62227	0.37563127	0.62703	-11.143	0.80436	D	0.2682583130442304	0.36129	0.451	0.62236	A	.	.	4.814382	0.78358	26.9	0.99324259331765385	0.59507	0.96832	0.71180	D	AEFDGBCIJ	0.885805	0.81665	D	0.584661802933608	0.72217	5.771062	0.592416165450865	0.74393	6.129732	0.999999999999988	0.74766	0.660085	0.49399	0	0.627608	0.54475	0	0.662677	0.59975	0	0.563494	0.21769	0	.	.	5.25	5.25	0.73169	7.602000	0.82038	7.790000	0.68871	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.505000	0.29129	0.0:0.0:0.0:1.0	13.126	0.58773	343	0.85802	Biotinyl protein ligase (BPL) and lipoyl protein ligase (LPL), catalytic domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.014706	0.005319	0.024194	0.013274	0.000000	0.000000	0.011765	0.037500	0.02632	1903.33	34	chr11	74492211	.	T	A	1903.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.248;DP=809;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.75;ReadPosRankSum=0.438;SOR=0.685	GT:AD:DP:GQ:PL	0/1:95,82:177:99:1917,0,2348	18	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	.	.	.	.	.	.	.	.	0.08824	170.3	139	chr11	76496253	.	C	G	170.3	.	AC=3;AF=0.088;AN=34;BaseQRankSum=-2.783;DP=2046;ExcessHet=0.3672;FS=176.329;InbreedingCoeff=-0.1218;MLEAC=3;MLEAF=0.088;MQ=60;MQRankSum=0;QD=0.42;ReadPosRankSum=0.479;SOR=11.387	GT:AD:DP:GQ:PL	0/1:93,42:142:99:111,0,1400	14	0	3	2
chr11	78210466	78210466	G	A	exonic	USP35	.	nonsynonymous SNV	USP35:NM_020798:exon10:c.G2611A:p.A871T	.	415	1104	3	0	0	3	0.00135685	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	.	8.2e-05	0.00339457	0.0023	0.0001	0	0	0	5.995e-05	0.0033	0.0165	0.0019922	308	154602	rs200701812	0.0011	0.0011	0.0006	0.0015	0.0166	0.0010	0.0010	0.0159	0.0156	0	8.944e-05	0.0002	0	0	0.0002	3.417e-05	0.0012	0.0166	0.0006	0.0006	0.0003	0.0009	0.0180	0.0005	0.0005	0.0150	0.0138	2.404e-05	0	6.533e-05	0.0003	0	0	0	2.94e-05	0.0005	0.0180	0.581	0.06049	T	0.741	0.04965	T	0.03	0.20002	B	0.013	0.16460	B	0.078177	0.21060	N	0.439888	1	0.08975	N	0.76	0.19266	N	3.23	0.06931	T	0.26	0.04613	N	0.095	0.07535	-0.9862	0.33542	T	0.016	0.06664	T	10	0.0030746162	0.00051	T	.	.	.	0.028	0.06331	.	.	0.361360026772	0.35753	0.14611472433983244	0.14533	0.227861830745	0.25340	0.417455941439	0.27487	T	0.002939	0.02340	T	-0.608861	0.00129	T	-0.63439	0.10084	T	0.02721279785622	0.01574	T	0.662834	0.27173	T	0.07941628	0.18141	0.05460789	0.09425	0.07941628	0.18141	0.05460789	0.09425	-3.852	0.21584	T	.	.	0.079	0.09143	B	.;.;.	.;.;.	1.136882	0.15237	11.70	0.9511669784248068	0.26210	0.05449	0.11326	N	AEFBCI	0.050726	0.08894	N	-0.611609083788006	0.18595	0.9666385	-0.500799904862571	0.22131	1.200609	0.850958668850056	0.25043	0.660377	0.49826	0	0.379588	0.06130	0	0.696353	0.63694	0	0.636168	0.56350	0	.	.	4.8	2.89	0.32713	1.049000	0.30001	0.243000	0.16332	0.618000	0.50648	0.008000	0.17931	0.000000	0.08366	0.665000	0.33109	0.2626:0.0:0.7374:0.0	8.320	0.31283	618	0.66225	Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain;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	0.002518	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.007576	0.02632	1901.33	47	chr11	78210466	.	G	A	1901.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=5.31;DP=884;ExcessHet=0;FS=11.073;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.45;ReadPosRankSum=1.53;SOR=1.428	GT:AD:DP:GQ:PL	0/1:101,65:166:99:1915,0,2513	18	0	1	0
chr11	78708489	78708489	T	C	exonic	TENM4	.	nonsynonymous SNV	TENM4:NM_001098816:exon27:c.A4081G:p.I1361V	Tremor, hereditary essential, 5, Autosomal dominant	426	1080	15	1	0	17	0.00780891	.	.	.	724760	not_provided|TENM4-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.481	.	0.0008	0.00199681	0.0023	0.0002	0.0006	0.0002	0.0002	0.0008	0.0012	0.0132	0.0019857	307	154602	rs200821670	0.0013	0.0013	0.0009	0.0018	0.0130	0.0013	0.0013	0.0124	0.0121	0.0001	0.0004	0.0030	5.038e-05	3.745e-05	0.0045	0.0005	0.0015	0.0130	0.0009	0.0009	0.0007	0.0011	0.0127	0.0008	0.0007	0.0101	0.0092	7.215e-05	0	0.0003	0.0052	0	0	0.0068	0.0007	0.0005	0.0127	0.17	0.22833	T	0.142	0.33330	T	0.913	0.50474	P	0.891	0.63213	P	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	0.935	0.23595	L	-2.67	0.90332	D	-0.72	0.20358	N	0.354	0.39558	0.428	0.89514	D	0.725	0.90590	D	9	0.011501104	0.00251	T	.	.	.	0.481	0.77142	.	.	0.323442020237	0.31956	0.3995742354190841	0.39872	0.294285333989	0.31851	0.615581035614	0.55104	T	0.112932	0.42958	T	-0.23194	0.16392	T	-0.0949118	0.63789	T	0.0598651018056591	0.07147	T	0.888511	0.61827	D	0.12055117	0.28363	0.15244803	0.35867	0.12055117	0.28363	0.15244803	0.35866	-5.775	0.44356	T	0.11152381363218447	0.09546	0.075	0.05535	B	.	.	3.801113	0.54768	23.5	0.99896844721841027	0.96971	0.96640	0.70161	D	AEFDGBIJ	0.754221	0.69417	D	0.497766097494585	0.66960	5.018224	0.537977490225704	0.70564	5.523974	0.999999999994788	0.74766	0.516011	0.20929	0	0.610034	0.51514	0	0.550215	0.18615	0	0.564101	0.26826	0	.	.	5.52	5.52	0.82153	6.255000	0.72423	6.215000	0.55059	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.957000	0.51019	0.0:0.0:0.0:1.0	15.811	0.78336	911	0.21964	.	.	.	.	.	.	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	0.004532	0.005051	0.005435	0.000000	0.000000	0.000000	0.009146	0.003788	0.02632	1150.33	34	chr11	78708489	.	T	C	1150.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.417;DP=722;ExcessHet=0;FS=2.721;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.11;ReadPosRankSum=1.07;SOR=0.455	GT:AD:DP:GQ:PL	0/1:43,52:95:99:1164,0,1105	18	0	1	0
chr11	83285959	83285959	T	C	exonic	CCDC90B	.	nonsynonymous SNV	CCDC90B:NM_021825:exon1:c.A14G:p.Q5R	.	428	1073	20	1	0	22	0.0101476	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	.	0.0065	0.00179712	0.0086	0.0017	0.0041	0	0.0261	0.0108	0.0106	0.0062	0.0064747	1001	154602	rs144749516	0.0072	0.0072	0.0073	0.0072	0.0106	0.0071	0.0071	0.0085	0.0077	0.0009	0.0031	0.0260	5.05e-05	0.0171	0.0106	0.0071	0.0078	0.0052	0.0061	0.0061	0.0056	0.0067	0.0073	0.0058	0.0057	0.0068	0.0066	0.0013	0	0.0024	0.0311	0.0002	0.0176	0.0068	0.0073	0.0052	0.0070	0.944	0.02767	T	0.515	0.11115	T	0.0	0.02946	B	0.0	0.01387	B	0.293906	0.03912	N	1.404180	0.86284	0.35419	D	-0.345	0.03330	N	1.6	0.29866	T	0.01	0.07736	N	0.055	0.04188	-1.0374	0.18109	T	0.028	0.12058	T	9	0.0029465258	0.00048	T	.	.	.	0.099	0.28413	.	.	0.149567049428	0.14543	0.21662631799472365	0.21578	0.0230896794622	0.02335	0.306394517422	0.11363	T	0.003364	0.02768	T	-0.527411	0.00398	T	-0.519335	0.20361	T	0.00392486475086559	0.00042	T	0.29547	0.05467	T	0.0334613	0.03570	0.060188286	0.11420	0.0334613	0.03570	0.060188286	0.11419	-3.808	0.20924	T	.	.	0.054	0.01408	B	.;.	.;.	0.263676	0.06420	2.889	0.60334667938948594	0.06438	0.00218	0.01233	N	ALL	0.038003	0.05312	N	-1.06331832002294	0.07328	0.3400958	-0.974073503520917	0.10369	0.5218358	0.999999999999997	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	5.31	4.37	0.51830	1.240000	0.32334	0.117000	0.14863	-1.073000	0.01588	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	0.0:0.9064:0.0:0.0936	10.200	0.42252	630	0.65016	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007591	0.000000	0.008152	0.017544	0.100000	0.000000	0.009259	0.003788	0.02632	1291.33	41	chr11	83285959	.	T	C	1291.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.577;DP=839;ExcessHet=0;FS=1.476;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.13;ReadPosRankSum=1.92;SOR=0.856	GT:AD:DP:GQ:PL	0/1:61,55:116:99:1305,0,1530	18	0	1	0
chr11	90086557	90086557	G	C	exonic	UBTFL1	.	nonsynonymous SNV	UBTFL1:NM_001143975:exon1:c.G608C:p.R203T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.108e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.46632	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	.	.	.	1.845	0.48678	L	.	.	.	.	.	.	0.107	0.09207	.	.	.	.	.	.	.	0.06643045	0.09110	T	.	.	.	.	.	.	.	0.0551355673512	0.04727	0.21323195079400067	0.21239	.	.	0.453380286694	0.32406	T	0.09006	0.38505	T	-0.213133	0.18940	T	-0.543927	0.17914	T	.	.	.	0.268673	0.04486	T	0.058495175	0.11776	0.07780641	0.17369	0.058495175	0.11776	0.07780641	0.17368	-2.736	0.07610	T	.	.	0.089	0.12132	B	.	.	0.095003	0.04978	1.540	0.40076986978530127	0.02806	0.04361	0.09932	N	AEFI	.	.	.	.	.	.	.	.	.	3.05911429590198E-6	0.01202	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0414318	0.01019	1.06	-2.13	0.06745	0.266000	0.18300	0.115000	0.14837	-3.554000	0.00076	0.039000	0.20931	0.000000	0.08366	0.017000	0.10941	0.2442:0.249:0.5067:0.0	3.692	0.07881	911	0.21964	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.07895	293.79	41	chr11	90086557	.	G	C	293.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-2.677;DP=682;ExcessHet=0.3672;FS=67.377;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=33.9;MQRankSum=-0.793;QD=3.19;ReadPosRankSum=1.79;SOR=6.183	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:19,5:25:99:.:.:240,0,696:.	16	0	3	0
chr11	90086558	90086558	G	C	exonic	UBTFL1	.	nonsynonymous SNV	UBTFL1:NM_001143975:exon1:c.G609C:p.R203S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0.0016	0.0005	0.0005	0.0006	0.0005	0.0004	0.0006	0.0005	0.0003	0	0.0002	0	0	0.0006	0.0006	0.0005	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	0.31427	T	0.02	0.18235	B	0.024	0.20255	B	.	.	.	.	.	.	.	1.845	0.48678	L	.	.	.	.	.	.	0.177	0.19055	.	.	.	.	.	.	.	0.07897973	0.12652	T	.	.	.	.	.	.	.	0.0666544352282	0.05500	0.20041654349623925	0.19958	.	.	0.434744000435	0.29857	T	0.02618	0.19424	T	-0.0652308	0.42086	T	-0.331476	0.41304	T	.	.	.	0.258474	0.04102	T	0.19470586	0.41231	0.14969048	0.35334	0.19470586	0.41231	0.14969048	0.35333	-1.725	0.02295	T	.	.	0.158	0.34949	B	.	.	0.764181	0.11341	7.959	0.48982207246768944	0.04133	0.11168	0.16454	N	AEFI	.	.	.	.	.	.	.	.	.	1.24664943251294E-6	0.01202	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0414318	0.01019	1.06	1.06	0.19341	1.319000	0.33260	-1.431000	0.05455	0.311000	0.19140	0.058000	0.21700	0.000000	0.08366	0.034000	0.13613	0.0:0.0:0.6123:0.3877	4.372	0.10686	911	0.21964	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.2083	633.1	51	chr11	90086558	.	G	C	633.1	.	AC=5;AF=0.208;AN=24;BaseQRankSum=-2.591;DP=741;ExcessHet=1.3;FS=178.578;InbreedingCoeff=-0.305;MLEAC=7;MLEAF=0.292;MQ=33.5;MQRankSum=-1.725;QD=3.88;ReadPosRankSum=1.32;SOR=7.903	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:19,10:29:99:0|1:90086558_G_C:250,0,696:90086558	7	0	5	7
chr11	90086559	90086559	T	C	exonic	UBTFL1	.	nonsynonymous SNV	UBTFL1:NM_001143975:exon1:c.T610C:p.S204P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.0034	0.0014	0.0010	0.0015	0.0011	0.0011	0.0014	0.0014	0.0007	6.138e-05	0.0003	0.0002	0	0.0015	0.0015	0.0009	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.167	0.30729	T	0.114	0.26387	B	0.055	0.25995	B	.	.	.	.	.	.	.	1.81	0.47622	L	.	.	.	.	.	.	0.184	0.19995	.	.	.	.	.	.	.	0.09870526	0.17865	T	.	.	.	.	.	.	.	0.0762999501168	0.06990	0.206982614041448	0.20614	.	.	0.471310138702	0.34860	T	0.051993	0.29036	T	-0.036046	0.46533	T	-0.289554	0.45819	T	.	.	.	0.212979	0.02609	T	0.15890183	0.35723	0.25574014	0.51261	0.15890183	0.35723	0.25574014	0.51260	-4.303	0.28219	T	.	.	0.081	0.08272	B	.	.	1.230443	0.16252	12.42	0.61155269003408275	0.06639	0.12260	0.17159	N	AEFI	.	.	.	.	.	.	.	.	.	2.32955600745505E-6	0.01202	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0414318	0.01019	1.06	1.06	0.19341	0.059000	0.14199	-0.821000	0.07295	0.305000	0.19019	0.018000	0.19461	0.000000	0.08366	0.048000	0.15020	0.0:0.0:0.0:1.0	6.324	0.20441	911	0.21964	.	.	.	.	.	.	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	305.57	36	chr11	90086559	.	T	C	305.57	.	AC=3;AF=0.083;AN=36;BaseQRankSum=-1.422;DP=738;ExcessHet=0.3672;FS=79.824;InbreedingCoeff=-0.1128;MLEAC=3;MLEAF=0.083;MQ=34.27;MQRankSum=-0.793;QD=3.15;ReadPosRankSum=1.77;SOR=6.517	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:19,10:29:99:0|1:90086558_G_C:250,0,696:90086558	15	0	3	1
chr11	94104605	94104605	C	A	exonic	HEPHL1	.	nonsynonymous SNV	HEPHL1:NM_001098672:exon16:c.C2760A:p.D920E	.	439	1030	50	3	0	56	0.026465	.	.	.	3213399	HEPHL1-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.573	.	0.0035	0.00579073	0.0081	0.0005	0.0039	0.0001	0.0082	0.0060	0.0156	0.0277	0.0071539	1106	154602	rs148114445	0.0066	0.0066	0.0058	0.0074	0.0279	0.0065	0.0065	0.0270	0.0266	0.0008	0.0034	0.0158	0.0001	0.0094	0.0125	0.0051	0.0077	0.0279	0.0047	0.0047	0.0044	0.0050	0.0266	0.0044	0.0043	0.0229	0.0214	0.0004	0	0.0031	0.0150	0.0004	0.0098	0.0238	0.0051	0.0057	0.0266	0.251	0.17069	T	0.421	0.14075	T	0.955	0.54515	P	0.612	0.51145	P	0.000000	0.84330	D	0.000000	0.864956	0.28297	N	2.56	0.74772	M	-5.07	0.98648	D	-0.93	0.24898	N	0.458	0.49511	0.667	0.92763	D	0.858	0.95278	D	10	0.0048802793	0.00104	T	.	.	.	0.573	0.82686	0.373	0.38503	0.312001716656	0.30816	0.649742882392639	0.64910	0.264314548464	0.28980	0.54286056757	0.44850	T	0.008359	0.07680	T	-0.169378	0.25330	T	0.00487325	0.70652	D	0.0454317492620898	0.04681	T	0.763224	0.38939	T	0.11625681	0.27423	0.12888005	0.30998	0.11625681	0.27423	0.12888005	0.30997	-7.378	0.56750	T	.	.	0.717	0.73646	P	.	.	1.523259	0.19552	14.32	0.99176371962165932	0.54556	0.63278	0.32040	D	AEFBI	0.270150	0.38628	N	-0.500907730539434	0.22051	1.174723	-0.612804354904618	0.19165	1.027009	0.400691816930855	0.20128	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	5.66	-1.63	0.07900	-0.267000	0.08648	-1.019000	0.06586	-0.170000	0.11276	0.545000	0.27306	0.000000	0.08366	0.948000	0.49324	0.0:0.3992:0.0:0.6008	11.957	0.52272	725	0.54935	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.012588	0.000000	0.010870	0.005848	0.000000	0.000000	0.018293	0.034091	0.07895	5947.79	34	chr11	94104605	.	C	A	5947.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=2.34;DP=1086;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=11.42;ReadPosRankSum=0.578;SOR=0.68	GT:AD:DP:GQ:PL	0/1:96,80:176:99:1994,0,2236	16	0	3	0
chr11	101894878	101894878	C	A	splicing	ANGPTL5	NM_178127:exon8:c.847+1G>T	.	.	.	.	.	.	.	.	.	.	1.0000	0.938	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.7e-05	.	4.995e-05	0	0	0	0	9.069e-05	0	0	3.88e-05	6	154602	rs146549224	6.171e-05	6.157e-05	5.868e-05	6.476e-05	0.0002	5.106e-05	4.726e-05	3.726e-05	3.379e-05	0	0	0.0010	0	0	0.0002	4.778e-05	0.0001	1.161e-05	5.917e-05	5.91e-05	7.71e-05	4.039e-05	8.821e-05	3.079e-05	2.211e-05	3.762e-05	2.575e-05	0	0	6.55e-05	0.0003	0	0	0	8.821e-05	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.267739	0.80237	D	0.327108	0.89389	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.674637	0.74743	26.2	0.99238608326309208	0.56469	0.96383	0.68870	D	AEFBI	.	.	.	0.962408273024171	0.94464	12.77923	0.790413556669377	0.89120	9.845893	0.468120717507575	0.20683	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.894202	0.56145	5.38	4.46	0.53567	4.334000	0.59076	3.689000	0.39491	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:0.9285:0.0:0.0715	14.514	0.67394	720	0.55521	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05263	1544.83	41	chr11	101894878	.	C	A	1544.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.02;DP=699;ExcessHet=0.119;FS=4.011;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.85;ReadPosRankSum=-0.633;SOR=1.17	GT:AD:DP:GQ:PL	0/1:26,25:51:99:701,0,612	17	0	2	0
chr11	102452614	102452614	C	G	exonic	TMEM123	.	nonsynonymous SNV	TMEM123:NM_052932:exon1:c.G10C:p.G4R	.	432	1088	2	0	0	2	0.000918274	.	.	.	4081702	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.148	0.0304587023394	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs1227035475	1.497e-05	1.71e-05	1.275e-05	1.721e-05	0.0002	9.62e-06	8.16e-06	5.717e-05	4.274e-05	0	9.675e-05	0	0	0	0.0002	3.684e-06	5.198e-05	0.0001	1.314e-05	1.313e-05	1.285e-05	1.344e-05	1.47e-05	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0.0005	0	0.0	0.91255	D	0.087	0.40747	T	1.0	0.90584	D	0.994	0.82059	D	0.993014	0.08017	U	0.995483	1	0.08975	N	0.895	0.22405	L	1.55	0.29866	T	-1.43	0.35194	N	0.412	0.45237	-1.0142	0.25593	T	0.099	0.36805	T	10	0.19805297	0.35761	T	0.030459	0.52764	D	0.148	0.39182	0.589	0.71749	0.043077524339	0.03247	0.38966331831308243	0.38881	0.0413911141349	0.04440	0.778842687607	0.78753	T	0.072521	0.34474	T	-0.329065	0.06182	T	-0.436156	0.29239	T	0.147066990786031	0.16868	T	0.648035	0.25918	T	0.15677378	0.35361	0.16961692	0.39009	0.15677378	0.35361	0.16961692	0.39009	-3.238	0.12951	T	.	.	0.880	0.81476	P	.;.	.;.	2.849604	0.37622	20.5	0.97001278739414076	0.31945	0.03108	0.08043	N	ALL	0.084279	0.17079	N	-0.307616550818669	0.28858	1.595288	-0.450917922108637	0.23522	1.283223	0.999999999994126	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.63	1.41	0.21461	0.395000	0.20576	0.854000	0.22166	0.549000	0.26987	0.157000	0.23755	0.291000	0.24165	0.669000	0.33223	0.3984:0.4971:0.0:0.1045	4.784	0.12586	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	0.000509	0.000000	0.000000	0.002941	0.000000	0.000000	0.000000	0.000000	0.02632	604.33	43	chr11	102452614	.	C	G	604.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.346;DP=698;ExcessHet=0;FS=2.43;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.33;ReadPosRankSum=-2.153;SOR=0.936	GT:AD:DP:GQ:PL	0/1:21,28:49:99:618,0,414	18	0	1	0
chr11	102704601	102704601	C	T	exonic	MMP27	.	nonsynonymous SNV	MMP27:NM_022122:exon2:c.G277A:p.V93M	.	435	1085	2	0	0	2	0.00092081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.163	0.0143127435113	7.7e-05	.	1.648e-05	0	0.0002	0	0	0	0	0	1.29e-05	2	154602	rs146002313	2.052e-05	2.052e-05	9.529e-06	3.163e-05	0.0003	1.456e-05	1.264e-05	6.092e-05	4.042e-05	0	6.708e-05	0	0	0	0.0003	1.169e-05	4.967e-05	0.0001	3.283e-05	3.281e-05	2.57e-05	4.028e-05	0.0002	1.26e-05	7.97e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0.0009	0.0002	0.028	0.46129	D	0.029	0.54541	D	0.973	0.57599	D	0.587	0.50368	P	0.016846	0.27871	N	0.249666	0.999988	0.54805	D	1.905	0.50856	L	1.03	0.40469	T	-2.34	0.51811	N	0.356	0.39760	-0.9522	0.40590	T	0.126	0.43112	T	10	0.3503617	0.51909	T	0.014313	0.34341	T	0.163	0.42028	.	.	0.60311569301	0.59994	0.8136355164673617	0.81319	0.0819677405464	0.09232	0.521621465683	0.41854	T	0.100751	0.40685	T	-0.30439	0.08252	T	-0.472358	0.25262	T	0.400253623723984	0.28951	T	0.906109	0.66926	D	0.112387866	0.26550	0.13526642	0.32392	0.112387866	0.26550	0.13526642	0.32391	-5.772	0.44330	T	.	.	0.332	0.55334	B	.	.	3.134729	0.42376	21.5	0.99734044251976905	0.82975	0.92011	0.54748	D	AEFBI	0.240026	0.36188	N	0.136413918846829	0.48170	3.032662	0.117566947710128	0.45448	2.807742	0.936146473154943	0.27242	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.55	2.47	0.29113	1.987000	0.40309	3.250000	0.37021	-0.306000	0.06133	0.928000	0.32210	0.998000	0.33993	0.845000	0.39915	0.0:0.651:0.1348:0.2142	7.075	0.24378	683	0.59664	Peptidase M10A, cysteine switch, zinc binding site	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1489.33	33	chr11	102704601	.	C	T	1489.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.99;DP=771;ExcessHet=0;FS=1.375;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.49;ReadPosRankSum=-1.03;SOR=0.825	GT:AD:DP:GQ:PL	0/1:85,57:142:99:1503,0,2214	18	0	1	0
chr11	112193881	112193881	A	G	exonic	BCO2	.	nonsynonymous SNV	BCO2:NM_001256400:exon3:c.A205G:p.M69V,BCO2:NM_001037290:exon4:c.A418G:p.M140V,BCO2:NM_001256397:exon4:c.A418G:p.M140V,BCO2:NM_031938:exon4:c.A520G:p.M174V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.0654580364519	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1301522322	6.916e-07	6.841e-07	1.379e-06	0	9.112e-07	0	0	.	.	0	0	0	0	0	0	9.112e-07	0	0	6.571e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	1.0	0.02093	T	1.0	0.01155	T	0.0	0.02946	B	0.004	0.10090	B	0.041288	0.23965	N	0.491767	1	0.81001	D	0.425	0.12573	N	-3.48	0.94584	D	-0.56	0.17003	N	0.071	0.04790	-0.4991	0.68682	T	0.579	0.84822	D	10	0.077631086	0.12276	T	0.065458	0.69586	D	0.266	0.57999	0.373	0.38503	0.555555669293	0.55214	0.5402292128093866	0.53947	0.0618181164956	0.06886	0.329353123903	0.14835	T	0.34268	0.71143	T	0.00728574	0.52655	T	-0.227311	0.52032	T	0.0825960049931888	0.10316	T	0.428957	0.11607	T	0.13419414	0.31186	0.1464422	0.34693	0.13419414	0.31186	0.1464422	0.34692	-4.108	0.25408	T	.	.	0.057	0.00904	B	.;.;.;.;.	.;.;.;.;.	0.957981	0.13342	9.847	0.85479479085665122	0.15919	0.52081	0.29047	D	AEFGI	0.614827	0.60200	D	-0.581348606347515	0.19511	1.021755	-0.397011857076371	0.25085	1.377497	0.0370456243848422	0.14276	0.553676	0.25195	0	0.610034	0.51514	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.29	5.29	0.74430	1.258000	0.32547	1.103000	0.24087	0.756000	0.94297	0.005000	0.17040	0.000000	0.08366	0.995000	0.73285	0.7298:0.2702:0.0:0.0	11.383	0.49009	701	0.57775	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1159.33	39	chr11	112193881	.	A	G	1159.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.313;DP=810;ExcessHet=0;FS=1.632;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.71;ReadPosRankSum=0.112;SOR=0.501	GT:AD:DP:GQ:PL	0/1:46,53:99:99:1173,0,1079	18	0	1	0
chr11	113232283	113232283	G	A	exonic	NCAM1	.	nonsynonymous SNV	NCAM1:NM_000615:exon10:c.G1324A:p.G442S,NCAM1:NM_001076682:exon10:c.G1324A:p.G442S,NCAM1:NM_001242608:exon10:c.G1324A:p.G442S,NCAM1:NM_181351:exon11:c.G1354A:p.G452S,NCAM1:NM_001242607:exon12:c.G1432A:p.G478S	.	419	1102	1	0	0	1	0.000453515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.649	0.181972619056	.	.	1.661e-05	0	0	0	0	0	0	0.0001	.	.	.	rs782757269	1.368e-06	1.368e-06	2.723e-06	0	2.319e-05	2.3e-07	9e-08	3.85e-06	1.44e-06	0	0	0	0	0	0	0	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	U	0.000000	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.889	0.88798	0.374	0.88712	D	0.669	0.88531	D	9	0.853716	0.84559	D	0.181973	0.85590	D	0.649	0.86736	0.687	0.82462	0.677418771477	0.67467	0.6538383329578891	0.65319	.	.	0.765150904655	0.76698	T	0.329049	0.80451	T	0.374653	0.88362	D	0.300386	0.88215	D	0.964097559452057	0.66854	D	0.953205	0.84924	D	0.75224227	0.80999	0.6147004	0.77574	0.75224227	0.81000	0.6147004	0.77575	-5.792	0.51803	T	.	.	0.173	0.51480	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	5.618538	0.92587	32	0.99900772497254253	0.97275	0.99215	0.92929	D	AEFDBI	0.971715	0.99372	D	0.785433886212589	0.85186	8.501683	0.775838553930672	0.88070	9.445536	0.999999999999999	0.74766	0.626454	0.40138	0	0.573888	0.26702	0	0.80507	0.99327	0	0.564101	0.26826	0	.	.	5.73	5.73	0.89730	9.917000	0.98722	11.804000	0.96737	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.969000	0.54022	0.0:0.0:1.0:0.0	20.279	0.98503	649	0.63102	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;.;Immunoglobulin I-set|Immunoglobulin-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	.	.	.	.	.	.	.	.	0.02632	1554.33	33	chr11	113232283	.	G	A	1554.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.835;DP=767;ExcessHet=0;FS=4.019;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.87;ReadPosRankSum=1.76;SOR=0.549	GT:AD:DP:GQ:PL	0/1:83,60:143:99:1568,0,2185	18	0	1	0
chr11	113387894	113387894	G	T	exonic	ANKK1	.	nonsynonymous SNV	ANKK1:NM_178510:exon1:c.G10T:p.D4Y	Dopamine receptor D2, reduced brain density of (3)	411	1104	7	0	0	7	0.00316027	.	.	.	3208607	ANKK1-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.296	0.00578765513716	0.0015	0.00179712	0.0057	0.0012	0.0010	0	0	0.0058	0.0078	0.0078	0.0012484	193	154602	rs35657708	0.0023	0.0022	0.0021	0.0024	0.0057	0.0022	0.0022	0.0053	0.0051	0.0002	0.0010	7.945e-05	0	0.0006	0.0055	0.0023	0.0019	0.0057	0.0015	0.0015	0.0015	0.0015	0.0077	0.0014	0.0013	0.0057	0.0050	0.0003	0	0.0012	0	0	0.0002	0.0068	0.0023	0.0009	0.0077	0.041	0.41915	D	0.076	0.42614	T	0.843	0.46605	P	0.415	0.44933	B	0.162693	0.03051	U	2.067300	1	0.08975	N	0.695	0.17993	N	-0.94	0.75325	T	-1.13	0.29114	N	0.223	0.25006	-0.9030	0.47673	T	0.189	0.53975	T	10	0.0047269166	0.00099	T	0.005788	0.15042	T	0.296	0.61616	.	.	0.668115110642	0.66531	0.5279138317729879	0.52715	0.0747858381331	0.08389	0.703850984573	0.67702	T	0.013428	0.11615	T	-0.457785	0.01015	T	-0.429262	0.30018	T	0.00499448286885358	0.00054	T	0.39556	0.09932	T	0.071604975	0.15866	0.107329085	0.25836	0.071604975	0.15866	0.107329085	0.25836	-6.312	0.48817	T	.	.	0.113	0.22208	B	.	.	0.864437	0.12371	8.907	0.92558223819830987	0.22010	0.07568	0.13580	N	AEFDBHCIJ	0.070015	0.13882	N	-0.786845463142686	0.13652	0.6740929	-0.932303149481261	0.11334	0.5767865	0.999999999986786	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.166054	0.03999	2	0.554799	0.18163	0	.	.	4.2	-1.3	0.08777	0.428000	0.21114	-0.878000	0.07076	0.509000	0.23192	0.001000	0.13787	0.000000	0.08366	0.018000	0.11154	0.269:0.1258:0.477:0.1282	2.008	0.03270	845	0.36510	.	.	.	.	.	.	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	0.005187	0.000000	0.008197	0.005988	0.000000	0.000000	0.006410	0.003876	0.02632	684.33	34	chr11	113387894	.	G	T	684.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.02;DP=673;ExcessHet=0;FS=1.251;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.91;ReadPosRankSum=0.554;SOR=1.022	GT:AD:DP:GQ:PL	0/1:18,25:43:99:698,0,380	18	0	1	0
chr11	118264152	118264152	A	G	exonic	MPZL2	.	startloss	MPZL2:NM_005797:exon1:c.T2C:p.M1?,MPZL2:NM_144765:exon1:c.T2C:p.M1?	.	433	1088	1	0	0	1	0.000459348	.	.	YES	3508687	Hearing_loss,_autosomal_recessive_111|MPZL2-related_disorder	MONDO:MONDO:0029142,MedGen:C4748374,OMIM:618145|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.642	0.859129820793	7.7e-05	.	0.0001	0.0003	0	0	0	0.0002	0	6.069e-05	0.00011	17	154602	rs371798268	9.235e-05	9.235e-05	7.351e-05	0.0001	6.295e-05	7.958e-05	7.431e-05	5.073e-05	4.653e-05	2.987e-05	0	0.0018	0	0	0	6.295e-05	0.0002	2.319e-05	0.0001	0.0001	0.0001	8.073e-05	8.821e-05	7.094e-05	5.75e-05	3.762e-05	2.575e-05	7.242e-05	0	6.545e-05	0.0017	0	0	0	8.821e-05	0.0005	0	0.0	0.91255	D	0.0	0.92824	D	0.139	0.27501	B	0.027	0.21085	B	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	-4.38	0.97369	D	-1.05	0.27463	N	0.903	0.92200	0.629	0.92279	D	0.824	0.94072	D	9	0.5468184	0.64030	D	0.85913	0.98917	D	0.642	0.86384	.	.	0.517983797298	0.51440	0.5386472514543796	0.53789	.	.	.	.	.	0.106917	0.41867	T	0.332172	0.85312	D	0.519	0.94986	D	0.952194809913635	0.63734	D	0.9	0.65058	D	0.94111806	0.95361	0.9453847	0.98114	0.94111806	0.95361	0.9453847	0.98115	-10.614	0.77500	D	.	.	.	.	.	.;.	.;.	3.473138	0.48468	22.6	0.98700309867489955	0.44895	0.80529	0.40143	D	ALL	0.041100	0.06204	N	0.045577589429573	0.43938	2.677189	0.197897758594939	0.49731	3.17294	0.999999999897364	0.74766	0.441713	0.08003	0	0.491552	0.07993	0	0.519653	0.09787	0	0.56214	0.19341	0	.	.	5.35	5.35	0.76297	3.503000	0.53100	9.372000	0.80454	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	11.748	0.51097	267	0.89517	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1294.33	43	chr11	118264152	.	A	G	1294.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.808;DP=845;ExcessHet=0;FS=0.734;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.57;ReadPosRankSum=1.32;SOR=0.731	GT:AD:DP:GQ:PL	0/1:49,54:103:99:1308,0,1102	18	0	1	0
chr11	124923361	124923361	G	A	exonic	HEPACAM	.	nonsynonymous SNV	HEPACAM:NM_152722:exon4:c.C782T:p.A261V	Megalencephalic leukoencephalopathy with subcortical cysts 2A, Autosomal recessive;Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	.	3763407	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.253	0.00910834850007	7.7e-05	.	4.947e-05	0	0	0	0	7.498e-05	0	6.056e-05	3.88e-05	6	154602	rs147015297	3.081e-05	3.078e-05	2.316e-05	3.853e-05	0.0001	2.349e-05	2.096e-05	5.396e-05	4.042e-05	0	0	0	0	0	0	2.79e-05	8.283e-05	0.0001	3.942e-05	3.94e-05	5.138e-05	2.69e-05	0.0002	1.715e-05	1.129e-05	1.972e-05	1.124e-05	0	0	6.539e-05	0	0	0	0	5.879e-05	0	0.0002	0.091	0.31834	T	0.011	0.64786	D	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	0.999991	0.58761	D	2.42	0.70002	M	1.32	0.35219	T	-1.49	0.36385	N	0.66	0.66959	-1.0208	0.23454	T	0.145	0.46859	T	10	0.602194	0.66975	D	0.009108	0.23965	T	0.253	0.56294	.	.	0.377143385212	0.37329	0.6514504355819514	0.65081	0.616629423173	0.56118	0.758487582207	0.75705	T	0.033035	0.22741	T	-0.123197	0.32602	T	-0.155062	0.58794	T	0.426758480345012	0.29941	T	0.953005	0.82069	D	0.31661198	0.54352	0.3185094	0.57818	0.31661198	0.54352	0.3185094	0.57818	-7.11	0.54832	T	0.664119420018068	0.73808	0.792	0.76934	P	.	.	5.228089	0.87752	29.3	0.99895032161751551	0.96819	0.98185	0.80341	D	AEFDBI	0.899783	0.84456	D	0.521219317422953	0.68346	5.204518	0.57054198259225	0.72837	5.873275	0.999906189320054	0.45458	0.497415	0.19182	0	0.59043	0.45803	0	0.563428	0.18855	0	0.613276	0.41899	0	.	.	5.37	5.37	0.76949	8.131000	0.89488	.	.	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.082	0.93167	733	0.53988	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1734.33	34	chr11	124923361	.	G	A	1734.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.921;DP=784;ExcessHet=0;FS=0.599;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.41;ReadPosRankSum=-0.125;SOR=0.696	GT:AD:DP:GQ:PL	0/1:74,78:152:99:1748,0,1861	18	0	1	0
chr11	126267701	126267701	C	G	exonic	SRPRA	.	nonsynonymous SNV	SRPRA:NM_001177842:exon2:c.G129C:p.Q43H,SRPRA:NM_003139:exon3:c.G213C:p.Q71H	.	433	1088	0	1	0	2	0.000918274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.359	0.0554000598591	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.003	0.76473	D	1.0	0.90584	D	0.996	0.84481	D	0.000009	0.62929	D	0.113557	1	0.81001	D	.	.	.	.	.	.	-4.83	0.80943	D	0.895	0.89465	-0.5566	0.66534	T	0.341	0.70688	T	9	0.88804483	0.88138	D	0.055	0.66222	D	0.359	0.67962	0.826	0.93721	0.248133497653	0.24425	0.9319651819774726	0.93175	1.17131033113	0.79773	0.878252387047	0.93724	D	0.529664	0.83701	D	0.207965	0.74639	D	0.0609504	0.74308	D	0.986816585063934	0.77442	D	0.959404	0.84692	D	0.81731313	0.85039	0.49502134	0.70795	0.81731313	0.85041	0.49502134	0.70795	-9.462	0.70622	D	.	.	0.963	0.92555	P	.;.	.;.	3.617126	0.51171	23.1	0.97650591795001196	0.35137	0.88304	0.48171	D	AEFDGBHCI	0.515932	0.54268	D	-0.208986728233915	0.32765	1.851475	-0.382737499028826	0.25512	1.403422	0.999999746284059	0.74766	0.722319	0.85440	0	0.672317	0.65289	0	0.698795	0.65105	0	0.638787	0.57140	0	.	.	4.24	0.115	0.13949	0.903000	0.28101	2.653000	0.33829	-0.266000	0.06809	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.1437:0.5409:0.0:0.3154	4.479	0.11169	804	0.43891	Signal recognition particle receptor, alpha subunit, 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	.	.	.	.	.	.	.	.	0.02632	761.33	35	chr11	126267701	.	C	G	761.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.487;DP=679;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.54;ReadPosRankSum=0.895;SOR=0.598	GT:AD:DP:GQ:PL	0/1:20,29:49:99:775,0,453	18	0	1	0
chr12	885903	885903	G	A	exonic	WNK1	.	nonsynonymous SNV	WNK1:NM_014823:exon17:c.G4358A:p.S1453N,WNK1:NM_001184985:exon19:c.G5879A:p.S1960N,WNK1:NM_018979:exon19:c.G5099A:p.S1700N,WNK1:NM_213655:exon19:c.G5855A:p.S1952N	Neuropathy, hereditary sensory and autonomic, type II, Autosomal recessive;Pseudohypoaldosteronism, type IIC, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.127	0.0578416206757	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.865e-07	1.368e-06	0	1.381e-06	2.523e-05	0	0	.	.	0	0	0	2.523e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.68238	D	0.417	0.14241	T	0.763	0.43659	P	0.463	0.46548	P	0.000006	0.62929	D	0.067898	0.968796	0.25824	N	2.34	0.67151	M	-0.63	0.72011	T	-1.72	0.43906	N	0.094	0.07398	-0.6542	0.62530	T	0.272	0.64391	T	10	0.18203363	0.33463	T	0.057842	0.67109	D	0.127	0.34888	0.198	0.11110	0.292174397486	0.28832	0.31925386442080556	0.31838	0.354352016501	0.37210	0.392497718334	0.24021	T	0.091188	0.60976	T	-0.142103	0.29557	T	-0.441898	0.28596	T	0.810062527656555	0.47052	D	0.756224	0.39354	T	0.1731508	0.38046	0.22403584	0.47302	0.1731508	0.38046	0.22403584	0.47301	-5.657	0.43309	T	.	.	0.179	0.43476	B	.;.;.;.;.	.;.;.;.;.	3.188438	0.43307	21.7	0.98077795587468808	0.38078	0.92788	0.56547	D	AEFDBI	0.501689	0.53442	D	0.00120148032841683	0.41910	2.515401	0.116947028598136	0.45414	2.805098	0.871871117948984	0.25434	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.87	4.99	0.65942	1.250000	0.32453	5.892000	0.50774	-0.104000	0.15758	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0662:0.2087:0.611:0.1142	7.010	0.24034	551	0.72115	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	6241.81	45	chr12	885903	.	G	A	6241.81	.	AC=2;AF=0.053;AN=38;DP=980;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=30.9;SOR=0.733	GT:AD:DP:GQ:PL	1/1:0,202:202:99:6269,606,0	18	1	0	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	.	.	.	.	.	.	.	.	0.3684	3193.35	94	chr12	4591261	.	G	C	3193.35	.	AC=14;AF=0.368;AN=38;BaseQRankSum=-1.805;DP=1547;ExcessHet=17.0548;FS=274.024;InbreedingCoeff=-0.5842;MLEAC=14;MLEAF=0.368;MQ=60;MQRankSum=0;QD=2.94;ReadPosRankSum=1.24;SOR=12.301	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:59,16:80:50:.:.:50,0,784:.	5	0	14	0
chr12	10407787	10407787	G	A	exonic	KLRC4	.	nonsynonymous SNV	KLRC4:NM_013431:exon4:c.C343T:p.R115C	.	448	1073	1	0	0	1	0.000465766	.	.	.	3983875	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.034	0.00177955908164	.	.	8.28e-06	0	0	0	0	0	0	6.176e-05	6.5e-06	1	154602	rs752700630	4.839e-06	6.156e-06	1.375e-06	8.345e-06	6.13e-05	2.01e-06	1.29e-06	1.015e-05	3.8e-06	6.13e-05	4.865e-05	0	0	0	0	9.034e-07	0	2.427e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.207	0.19854	T	0.237	0.24621	T	0.024	0.19075	B	0.02	0.19048	B	0.178824	0.03167	N	1.668120	1	0.08975	N	0.205	0.09354	N	3.53	0.04852	T	0.66	0.02297	N	0.052	0.02366	-0.9627	0.38664	T	0.011	0.03996	T	10	0.05484	0.05902	T	0.00178	0.03037	T	0.034	0.08419	0.457	0.52265	0.178374595973	0.17440	0.12935475570143548	0.12860	0.320369429147	0.34245	0.266242444515	0.05657	T	0.00592	0.05364	T	-0.430725	0.01467	T	-0.619814	0.11199	T	0.0148473336578225	0.00313	T	0.144386	0.01177	T	0.043136872	0.06669	0.029037794	0.01198	0.043136872	0.06669	0.029037794	0.01198	-1.637	0.02070	T	.	.	0.089	0.12371	B	.	.	-0.092278	0.03686	0.748	0.48528971656360453	0.04057	0.00126	0.00785	N	AEFBI	0.036798	0.04959	N	-1.67927741164254	0.00918	0.03974227	-1.75573531811432	0.00912	0.04078871	5.90053676195863E-4	0.07390	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	3.89	-4.8	0.02957	-1.449000	0.02498	-8.620000	0.00940	-2.820000	0.00180	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1999:0.1452:0.512:0.1429	4.191	0.09882	872	0.31118	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1111	486.94	33	chr12	10407787	.	G	A	486.94	.	AC=4;AF=0.111;AN=36;BaseQRankSum=-3.302;DP=1788;ExcessHet=0.7564;FS=121.428;InbreedingCoeff=-0.1345;MLEAC=4;MLEAF=0.111;MQ=60;MQRankSum=0;QD=0.67;ReadPosRankSum=0.177;SOR=10.853	GT:AD:DP:GQ:PL	0/1:151,47:198:41:41,0,2212	14	0	4	1
chr12	10930685	10930685	A	C	exonic	PRH2	.	nonsynonymous SNV	PRH2:NM_001110213:exon3:c.A124C:p.I42L	.	422	1079	21	0	0	21	0.00963745	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.00157848723934	.	.	0.0004	0.0021	0.0003	0.0001	0	0.0002	0.0011	0.0004	0.0017289	45	26028	rs2923234	0.0007	0.0030	0.0006	0.0007	0.0021	0.0006	0.0006	0.0017	0.0016	0.0021	0.0010	0.0011	0.0005	0.0003	0.0002	0.0005	0.0010	0.0017	0.0031	0.0054	0.0033	0.0028	0.0061	0.0028	0.0027	0.0055	0.0052	0.0061	0	0.0016	0.0033	0.0002	0.0008	0	0.0021	0.0035	0.0030	0.532	0.06980	T	0.656	0.06598	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.36	0.16089	T	0.05	0.06369	N	0.164	0.17278	-0.9454	0.41748	T	0.018	0.07612	T	9	0.005495906	0.00121	T	0.001578	0.02523	T	0.006	0.00375	0.223	0.14665	0.043077524339	0.03247	0.031072521489905844	0.03056	1.57927069771	0.88367	0.282763034105	0.07881	T	.	.	.	-0.343694	0.05137	T	-0.731469	0.04261	T	0.00418809267600828	0.00045	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.00297	B	.;.	.;.	-1.403301	0.00358	0.006	0.21598653107946342	0.00830	0.00037	0.00318	N	AEFGI	0.019380	0.00667	N	-2.12225054748313	0.00114	0.004894974	-2.19931340376998	0.00112	0.004941841	0.847810366629689	0.24987	0.553676	0.25195	0	0.588015	0.36545	0	0.536957	0.11973	0	0.620846	0.47308	0	.	.	0.904	-1.81	0.07456	-1.135000	0.03337	-9.997000	0.00751	-2.508000	0.00261	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2436:0.5518:0.0:0.2046	3.420	0.06962	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	.	.	.	.	.	.	.	.	0.02632	200.33	37	chr12	10930685	.	A	C	200.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.77;DP=1509;ExcessHet=0;FS=36.763;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=48;MQRankSum=-5.569;QD=1.63;ReadPosRankSum=0.835;SOR=5.267	GT:AD:DP:GQ:PL	0/1:107,16:123:99:214,0,3126	18	0	1	0
chr12	10930916	10930916	C	T	exonic	PRH2	.	nonsynonymous SNV	PRH2:NM_001110213:exon3:c.C355T:p.R119C	.	435	924	162	0	1	163	0.080597	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.00135719490272	.	.	0.0029	0.0048	0.0017	0.0035	0.0008	0.0036	0	0.0007	0.0001921	5	26028	rs200488155	0.0017	0.0087	0.0012	0.0022	0.0033	0.0017	0.0016	0.0030	0.0029	0.0009	0.0027	0.0003	0.0013	0.0084	0.0014	0.0014	0.0014	0.0033	0.0020	0.0066	0.0021	0.0020	0.0021	0.0018	0.0018	0.0018	0.0017	0.0019	0	0.0018	0.0003	0.0021	0.0034	0	0.0021	0.0031	0.0009	0.003	0.68238	D	0.053	0.47336	T	.	.	.	.	.	.	0.105583	0.02589	U	18.770200	1	0.08975	N	.	.	.	3.6	0.04494	T	-2.67	0.57110	D	0.136	0.16447	-0.9623	0.38742	T	0.014	0.05705	T	10	0.006133795	0.00138	T	0.001357	0.01961	T	0.040	0.10527	.	.	0.043077524339	0.03247	0.42757858420159933	0.42674	2.02830112022	0.94057	0.486923903227	0.37012	T	.	.	.	-0.311255	0.07638	T	-0.684873	0.06690	T	0.0238748472601751	0.01129	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.261	0.51798	B	.;.	.;.	1.809367	0.22993	15.84	0.69557796090960189	0.09011	0.00174	0.01026	N	AEFGI	0.041418	0.06294	N	-1.24081326439534	0.04422	0.1995362	-1.38216006772386	0.03442	0.1605599	0.243600485591568	0.18599	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	0.865	-0.205	0.12548	0.171000	0.16497	-5.685000	0.01631	0.411000	0.20652	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.5953:0.4047:0.0	4.703	0.12216	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	0.009740	0.026316	0.001362	0.016667	0.000000	0.008621	0.009434	0.007812	0.2105	2125.21	110	chr12	10930916	.	C	T	2125.21	.	AC=8;AF=0.211;AN=38;BaseQRankSum=2.6;DP=1538;ExcessHet=4.0268;FS=15.864;InbreedingCoeff=-0.2666;MLEAC=8;MLEAF=0.211;MQ=41.25;MQRankSum=0.943;QD=2.77;ReadPosRankSum=-0.264;SOR=2.412	GT:AD:DP:GQ:PL	0/1:57,33:90:99:912,0,1546	11	0	8	0
chr12	11308825	11308825	G	T	exonic	PRB4	.	nonsynonymous SNV	PRB4:NM_001261399:exon3:c.C158A:p.P53H,PRB4:NM_002723:exon3:c.C158A:p.P53H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.000724737728306	.	.	8.342e-06	0	0	0	0	0	0	6.071e-05	6.5e-06	1	154602	rs145538331	0.0003	0.0091	0.0003	0.0003	0.0008	0.0002	0.0002	0.0006	0.0005	0.0005	0.0002	0.0007	0.0008	0.0004	0	0.0002	0.0005	3.579e-05	0.0008	0.0070	0.0008	0.0007	0.0013	0.0006	0.0006	0.0005	0.0005	0.0008	0	0.0009	0.0009	0.0007	0.0008	0	0.0006	0.0028	0.0013	0.086	0.32610	T	0.079	0.42086	T	0.62	0.39915	P	0.192	0.36449	B	.	.	.	.	1	0.08975	N	.	.	.	3.66	0.04228	T	-1.82	0.42763	N	0.189	0.24385	-1.0172	0.24625	T	0.013	0.04985	T	8	0.094213486	0.16733	T	7.25E-4	0.00472	T	0.038	0.09825	0.307	0.27806	0.0297737177859	0.01360	0.14867610920793883	0.14789	5.39720892046E-4	0.00050	.	.	.	0.009784	0.08886	T	-0.461542	0.00962	T	-0.717981	0.04894	T	0.0491737318569793	0.05354	T	0.30297	0.06003	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	0.05103	B	.;.;.;.	.;.;.;.	-1.486722	0.00303	0.005	0.13684848466116051	0.00278	0.00057	0.00426	N	AEFBI	0.022063	0.01057	N	-1.78961807863172	0.00571	0.02459707	-2.02858908995553	0.00266	0.01174935	0.00233645441564733	0.09333	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	0.618	-1.24	0.08948	-3.359000	0.00553	-12.909000	0.00492	-10.517000	0.00000	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	976	0.04745	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	1330.94	115	chr12	11308825	.	G	T	1330.94	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.958;DP=3795;ExcessHet=0.119;FS=2.05;InbreedingCoeff=-0.0547;MLEAC=2;MLEAF=0.053;MQ=58.37;MQRankSum=-5.993;QD=2.1;ReadPosRankSum=-5.845;SOR=0.963	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:295,22:317:15:0|1:11308772_G_T:15,0,11940:11308772	17	0	2	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	22281.8	162	chr12	11353720	.	C	CTGTTGCCTCCTTGTTGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGGTGGGGGACCTTGGGGCTGGTTACCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGATCGGGGACTTTGGGACTTGTCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGTGGGGGACCCTGAGGTT	22281.8	.	AC=8;AF=0.4;AN=20;BaseQRankSum=1.9;DP=5175;ExcessHet=0.0003;FS=2.74;InbreedingCoeff=0.226;MLEAC=11;MLEAF=0.55;MQ=48.16;MQRankSum=-0.585;QD=23.73;ReadPosRankSum=-3.175;SOR=0.801	GT:AD:DP:GQ:PL	1/1:9,239:248:99:7172,660,0	5	3	2	9
chr12	13055794	13055794	C	T	exonic	FAM234B	.	nonsynonymous SNV	FAM234B:NM_020853:exon2:c.C281T:p.A94V	.	431	1086	2	3	0	8	0.00366972	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	0.187664242787	.	.	6.659e-05	0	0	0	0	0	0	0.0005	5.17e-05	8	154602	rs146476799	3.899e-05	3.899e-05	2.45e-05	5.363e-05	0.0005	3.047e-05	2.783e-05	0.0003	0.0003	0	0	3.826e-05	0	0	0.0003	9.892e-06	6.623e-05	0.0005	1.313e-05	1.312e-05	2.57e-05	0	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.056	0.38185	T	0.088	0.40586	T	0.745	0.43117	P	0.212	0.37394	B	0.097356	0.20031	N	0.559394	0.864204	0.35443	D	.	.	.	1.63	0.28002	T	-1.67	0.39887	N	0.373	0.41459	-0.9526	0.40520	T	0.076	0.30366	T	10	0.14741069	0.27932	T	0.187664	0.85952	D	0.053	0.14996	0.29	0.25081	0.273070737957	0.26916	0.24069767310555254	0.23983	0.261934215606	0.28761	0.358945459127	0.19232	T	0.023963	0.18199	T	-0.517988	0.00452	T	-0.621036	0.11105	T	0.0974271595478058	0.12071	T	.	.	.	0.046631597	0.07837	0.0806153	0.18250	0.046631597	0.07837	0.0806153	0.18250	-4.633	0.32583	T	.	.	0.088	0.11893	B	.	.	2.889734	0.38266	20.7	0.99849828940833685	0.92925	0.97082	0.72584	D	AEFBI	0.393787	0.47130	N	0.172797268025799	0.49895	3.185011	0.205006034272231	0.50125	3.207859	0.990689678259489	0.32235	0.732398	0.92422	0	0.588015	0.36545	0	0.743671	0.96076	0	0.655142	0.61905	0	.	.	5.33	4.44	0.53164	3.439000	0.52642	4.045000	0.41458	-0.181000	0.10308	0.994000	0.38300	0.999000	0.35428	0.117000	0.19042	0.0:0.9266:0.0:0.0734	13.855	0.63017	883	0.28872	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	2419.33	34	chr12	13055794	.	C	T	2419.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.354;DP=838;ExcessHet=0;FS=6.419;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.75;ReadPosRankSum=1.03;SOR=0.669	GT:AD:DP:GQ:PL	0/1:77,99:176:99:2433,0,1834	18	0	1	0
chr12	27370167	27370167	C	T	exonic	ARNTL2	.	nonsynonymous SNV	ARNTL2:NM_001248002:exon3:c.C221T:p.S74F,ARNTL2:NM_020183:exon3:c.C221T:p.S74F	.	425	1085	12	0	0	12	0.00549954	.	.	.	4020755	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.050	.	0.0011	0.00419329	0.0020	0.0002	0.0010	0	0	0.0011	0	0.0093	0.0019405	300	154602	rs71541524	0.0016	0.0016	0.0013	0.0018	0.0096	0.0015	0.0015	0.0090	0.0088	0.0001	0.0006	0.0067	0	1.873e-05	0.0028	0.0010	0.0019	0.0096	0.0012	0.0012	0.0012	0.0012	0.0102	0.0011	0.0010	0.0079	0.0071	7.216e-05	0	0.0008	0.0095	0	0	0	0.0012	0.0019	0.0102	0.038	0.43708	D	0.045	0.49390	D	0.799	0.44910	P	0.281	0.40336	B	0.014137	0.01382	N	3.039860	0.99998	0.54805	D	1.39	0.34934	L	3.3	0.06368	T	-1.6	0.38540	N	0.235	0.28264	-0.9620	0.38800	T	0.017	0.06950	T	10	0.004114896	0.00081	T	.	.	.	0.050	0.13987	.	.	0.258283824007	0.25425	0.3896110847793631	0.38876	0.28713633429	0.31114	0.546271383762	0.45331	T	0.005427	0.04881	T	-0.555743	0.00269	T	-0.563813	0.16020	T	0.00965001284405309	0.00126	T	0.80392	0.45144	T	0.10180157	0.24048	0.12902507	0.31031	0.10180157	0.24048	0.12902507	0.31031	-4.357	0.31344	T	.	.	0.146	0.33086	B	.;.	.;.	3.228127	0.44012	21.8	0.98849133460354754	0.47271	0.23389	0.22060	N	AEFBI	0.042962	0.06730	N	-0.375705448312961	0.26338	1.436637	-0.368626054417469	0.25938	1.429556	0.00474915335458683	0.10696	0.566229	0.32551	0	0.615513	0.52658	0	0.670488	0.60580	0	0.635551	0.53088	0	.	.	3.13	3.13	0.35090	2.103000	0.41430	1.697000	0.28107	0.529000	0.24592	0.221000	0.24547	0.492000	0.25158	0.997000	0.79791	0.0:1.0:0.0:0.0	10.013	0.41171	780	0.47616	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004032	0.000000	0.004076	0.000000	0.000000	0.000000	0.000000	0.015152	0.05263	3504.81	34	chr12	27370167	.	C	T	3504.81	.	AC=2;AF=0.053;AN=38;DP=740;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=30.74;SOR=0.841	GT:AD:DP:GQ:PL	1/1:0,114:114:99:3532,342,0	18	1	0	0
chr12	29477164	29477164	-	TC	exonic	OVCH1	.	frameshift insertion	OVCH1:NM_001353179:exon12:c.1419_1420insGA:p.L474Dfs*21	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.35e-06	0	0	0	0	1.508e-05	0	0	6.5e-06	1	154602	rs754832261	6.843e-06	6.84e-06	2.723e-06	1.1e-05	9.278e-05	3.46e-06	2.52e-06	4.58e-05	3.273e-05	0	0	0	0	0	0	8.995e-07	1.657e-05	9.278e-05	1.972e-05	1.97e-05	1.285e-05	2.691e-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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1677.29	37	chr12	29477164	.	A	ATC	1677.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.639;DP=823;ExcessHet=0;FS=0.761;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.11;ReadPosRankSum=-0.652;SOR=0.783	GT:AD:DP:GQ:PL	0/1:66,45:111:99:1691,0,2616	18	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	.	.	.	.	.	.	.	.	0.4444	3192.41	61	chr12	39764776	.	G	C	3192.41	.	AC=16;AF=0.444;AN=36;BaseQRankSum=-0.323;DP=1223;ExcessHet=28.6262;FS=348.508;InbreedingCoeff=-0.7653;MLEAC=16;MLEAF=0.444;MQ=60;MQRankSum=0;QD=3.27;ReadPosRankSum=0.863;SOR=12.249	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:34,29:66:99:.:.:376,0,410:.	2	0	16	1
chr12	39764778	39764778	G	A	exonic	SLC2A13	.	nonsynonymous SNV	SLC2A13:NM_052885:exon8:c.C1526T:p.A509V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.203	0.0177069271949	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.848e-07	6.841e-07	0	1.377e-06	9.001e-07	0	0	.	.	0	0	0	0	0	0	9.001e-07	0	0	6.581e-06	6.566e-06	0	1.347e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.309	0.14064	T	0.311	0.19660	T	0.014	0.16867	B	0.05	0.25278	B	0.000013	0.62929	D	0.113054	0.999713	0.48481	D	.	.	.	-1.01	0.76168	T	-0.31	0.12099	N	0.257	0.29081	-0.7453	0.58180	T	0.273	0.64443	T	10	0.21655372	0.38241	T	0.017707	0.39515	T	0.203	0.48915	0.697	0.83406	0.151262610727	0.14761	0.7928660009766968	0.79239	0.224749101013	0.25008	0.54022371769	0.44477	T	0.147497	0.48561	T	-0.0588532	0.43086	T	-0.322315	0.42320	T	0.95820426940918	0.65209	D	0.889111	0.62070	D	0.12108061	0.28480	0.15200104	0.35782	0.12108061	0.28480	0.15200104	0.35781	-8.403	0.63785	D	.	.	0.247	0.48135	B	.	.	3.158678	0.42787	21.6	0.72433600078509297	0.09972	0.85720	0.44884	D	AEFCI	0.561062	0.56921	D	-0.0694159268393656	0.38738	2.273609	0.136951197838408	0.46454	2.891159	0.361488548204108	0.19782	0.653281	0.48532	0	0.573888	0.26702	0	0.675528	0.61593	0	0.620846	0.47308	0	.	.	5.39	4.49	0.54177	5.774000	0.68561	9.659000	0.81190	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0721:0.0:0.9279:0.0	14.373	0.66419	507	0.75469	Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1111	447.66	61	chr12	39764778	.	G	A	447.66	.	AC=4;AF=0.111;AN=36;BaseQRankSum=-1.948;DP=1036;ExcessHet=0.7564;FS=304.398;InbreedingCoeff=-0.1414;MLEAC=3;MLEAF=0.083;MQ=60;MQRankSum=0;QD=1.83;ReadPosRankSum=1.14;SOR=9.129	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:50,17:67:13:.:.:13,0,1247:.	14	0	4	1
chr12	40460309	40460309	G	A	exonic	MUC19	.	unknown	UNKNOWN	.	423	1076	22	1	0	24	0.0110294	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	.	.	0.00179712	0.0065	0	0	0	0.0012	0.0130	0.015	0.0043	0.0013066	202	154602	rs191493043	0.0036	0.0029	0.0035	0.0038	0.0077	0.0035	0.0035	0.0057	0.0050	0.0006	0.0031	0.0293	7.812e-05	0.0006	0.0077	0.0033	0.0044	0.0041	0.0033	0.0033	0.0033	0.0033	0.0069	0.0030	0.0029	0.0050	0.0044	0.0004	0	0.0030	0.0311	0	0.0004	0.0102	0.0040	0.0052	0.0069	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1919.33	33	chr12	40460309	.	G	A	1919.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.384;DP=809;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.42;ReadPosRankSum=0.746;SOR=0.693	GT:AD:DP:GQ:PL	0/1:84,84:168:99:1933,0,1874	18	0	1	0
chr12	40487614	40487614	G	A	exonic	MUC19	.	unknown	UNKNOWN	.	554	957	11	0	0	11	0.00571429	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs199534443	3.042e-05	0.0014	2.262e-05	3.951e-05	6.158e-05	2.088e-05	1.764e-05	1.916e-05	1.636e-05	0	0	0.0004	0	0	0	2.927e-05	0	6.158e-05	0.0011	0.0027	0.0011	0.0011	0.0018	0.0009	0.0009	0.0013	0.0012	0.0001	0	0.0008	0.0102	0	0	0	0.0015	0.0006	0.0018	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	4824.33	1119	chr12	40487614	.	G	A	4824.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=7.4;DP=16843;ExcessHet=0;FS=1.551;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.3;MQRankSum=-12.42;QD=4.23;ReadPosRankSum=-3.643;SOR=0.92	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:950,191:1141:99:0|1:40487614_G_A:4838,0,38840:40487614	18	0	1	0
chr12	40487622	40487622	A	G	exonic	MUC19	.	unknown	UNKNOWN	.	555	956	11	0	0	11	0.00572023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs200780002	1.594e-05	0.0014	1.236e-05	2.01e-05	6.838e-05	8.5e-06	6.71e-06	6.15e-06	4.46e-06	6.699e-05	0	0.0002	0	0	0	1.308e-05	0	6.838e-05	0.0017	0.0059	0.0017	0.0017	0.0031	0.0015	0.0014	0.0018	0.0017	0.0007	0	0.0013	0.0125	0.0007	0.0004	0	0.0022	0	0.0031	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	4177.33	1119	chr12	40487622	.	A	G	4177.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.46;DP=16822;ExcessHet=0;FS=4.39;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.33;MQRankSum=-18.81;QD=3.86;ReadPosRankSum=-6.205;SOR=1.078	GT:AD:DP:GQ:PL	0/1:915,167:1117:99:4191,0,38813	18	0	1	0
chr12	40487628	40487628	T	C	exonic	MUC19	.	unknown	UNKNOWN	.	549	964	9	0	0	9	0.00464636	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs2588415	4.708e-05	0.0007	5.16e-05	4.182e-05	5.148e-05	3.524e-05	3.094e-05	3.853e-05	3.383e-05	0	0	0	0	0	0	5.148e-05	0	0	0.0006	0.0026	0.0005	0.0007	0.0008	0.0005	0.0005	0.0005	0.0005	0.0002	0	0.0005	0.0068	0	0	0	0.0007	0.0006	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	3508.33	1119	chr12	40487628	.	T	C	3508.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=9.95;DP=16812;ExcessHet=0;FS=2.723;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.35;MQRankSum=-13.44;QD=3.1;ReadPosRankSum=-6.698;SOR=0.981	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:978,154:1132:99:0|1:40487614_G_A:3522,0,40602:40487614	18	0	1	0
chr12	40487630	40487630	G	A	exonic	MUC19	.	unknown	UNKNOWN	.	546	967	9	0	0	9	0.00463201	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1186039868	0	0.0005	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0004	0.0020	0.0004	0.0004	0.0006	0.0003	0.0003	0.0004	0.0003	4.82e-05	0	0.0005	0.0045	0	0	0	0.0005	0.0005	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	.	.	.	.	.	.	.	.	0.02632	2804.33	1119	chr12	40487630	.	G	A	2804.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.2;DP=16792;ExcessHet=0;FS=5.728;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.36;MQRankSum=-13.83;QD=2.52;ReadPosRankSum=-7.174;SOR=1.351	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:975,137:1112:99:0|1:40487614_G_A:2818,0,40527:40487614	18	0	1	0
chr12	40487631	40487631	G	C	exonic	MUC19	.	unknown	UNKNOWN	.	545	968	9	0	0	9	0.00462725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1246198049	1.205e-06	0.0003	0	2.609e-06	1.318e-06	0	0	.	.	0	0	0	0	0	0	1.318e-06	0	0	0.0004	0.0019	0.0003	0.0004	0.0006	0.0003	0.0003	0.0004	0.0003	4.817e-05	0	0.0005	0.0042	0	0	0	0.0005	0.0005	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	.	.	.	.	.	.	.	.	0.02632	2678.33	1119	chr12	40487631	.	G	C	2678.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=12.3;DP=16789;ExcessHet=0;FS=5.712;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.39;MQRankSum=-13.67;QD=2.42;ReadPosRankSum=-7.048;SOR=1.444	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:975,134:1109:99:0|1:40487614_G_A:2692,0,40537:40487614	18	0	1	0
chr12	40487633	40487633	T	G	exonic	MUC19	.	unknown	UNKNOWN	.	553	959	10	0	0	10	0.00518672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs2588416	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0004	0.0020	0.0004	0.0004	0.0007	0.0003	0.0003	0.0004	0.0003	5.372e-05	0	0.0004	0.0041	0	0	0	0.0005	0.0010	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	.	.	.	.	.	.	.	.	0.02632	2489.33	1119	chr12	40487633	.	T	G	2489.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=8.45;DP=16777;ExcessHet=0;FS=7.603;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.39;MQRankSum=-13.72;QD=2.27;ReadPosRankSum=-7.93;SOR=1.533	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:968,129:1097:99:0|1:40487614_G_A:2503,0,40258:40487614	18	0	1	0
chr12	40487634	40487634	C	T	exonic	MUC19	.	unknown	UNKNOWN	.	551	962	9	0	0	9	0.00465598	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1395004529	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0003	0.0020	0.0003	0.0004	0.0007	0.0003	0.0002	0.0003	0.0002	4.948e-05	0	0.0004	0.0036	0	0	0	0.0004	0.0005	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	.	.	.	.	.	.	.	.	0.02632	2495.33	1119	chr12	40487634	.	C	T	2495.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.678;DP=16775;ExcessHet=0;FS=7.603;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.37;MQRankSum=-13.93;QD=2.28;ReadPosRankSum=-8.461;SOR=1.539	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:966,129:1095:99:0|1:40487614_G_A:2509,0,40174:40487614	18	0	1	0
chr12	40487641	40487641	T	C	exonic	MUC19	.	unknown	UNKNOWN	.	545	970	7	0	0	7	0.00359527	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1413162729	0	2.741e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0017	0.0001	0.0002	0.0006	0.0001	8.753e-05	0.0002	9.078e-05	2.41e-05	0	0.0001	0.0018	0	0	0	0.0002	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	.	.	.	.	.	.	.	.	0.02632	2489.33	1119	chr12	40487641	.	T	C	2489.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.791;DP=16777;ExcessHet=0;FS=2.996;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.32;MQRankSum=-15.83;QD=2.27;ReadPosRankSum=-9.731;SOR=1.088	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:968,129:1097:99:0|1:40487614_G_A:2503,0,40258:40487614	18	0	1	0
chr12	40487644	40487644	G	A	exonic	MUC19	.	unknown	UNKNOWN	.	547	968	7	0	0	7	0.00360268	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1178664572	1.204e-06	1.919e-05	0	2.607e-06	1.317e-06	0	0	.	.	0	0	0	0	0	0	1.317e-06	0	0	0.0001	0.0016	7.789e-05	0.0001	0.0004	7.167e-05	5.81e-05	7.471e-05	5.131e-05	2.43e-05	0	6.604e-05	0.0012	0	0	0	0.0001	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	.	.	.	.	.	.	.	.	0.02632	2348.33	1119	chr12	40487644	.	G	A	2348.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=10.35;DP=16779;ExcessHet=0;FS=3.006;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.37;MQRankSum=-15.24;QD=2.14;ReadPosRankSum=-10.93;SOR=1.003	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:973,126:1099:99:0|1:40487614_G_A:2362,0,40477:40487614	18	0	1	0
chr12	40487647	40487647	G	A	exonic	MUC19	.	unknown	UNKNOWN	.	547	969	6	0	0	6	0.00308642	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1360560493	0	5.483e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0001	0.0016	7.744e-05	0.0002	0.0004	7.609e-05	6.308e-05	7.952e-05	6.025e-05	2.409e-05	0	6.559e-05	0.0012	0	0	0	0.0001	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	.	.	.	.	.	.	.	.	0.02632	2438.33	1119	chr12	40487647	.	G	A	2438.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.82;DP=16779;ExcessHet=0;FS=0.852;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.38;MQRankSum=-15.16;QD=2.22;ReadPosRankSum=-11.05;SOR=0.894	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:971,128:1099:99:0|1:40487614_G_A:2452,0,40387:40487614	18	0	1	0
chr12	40487658	40487658	A	C	exonic	MUC19	.	unknown	UNKNOWN	.	548	973	1	0	0	1	0.000513611	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1362322787	0	1.508e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0004	0.0013	0.0005	0.0004	0.0007	0.0004	0.0003	0.0004	0.0003	2.629e-05	0	0.0001	0.0059	0.0002	0.0001	0	0.0005	0.0005	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	.	.	.	.	.	.	.	.	0.02632	2984.33	1119	chr12	40487658	.	A	C	2984.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=5.53;DP=16792;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.58;MQRankSum=-14.13;QD=2.68;ReadPosRankSum=-12.2;SOR=0.742	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:971,141:1112:99:0|1:40487614_G_A:2998,0,40348:40487614	18	0	1	0
chr12	40487685	40487685	C	T	exonic	MUC19	.	unknown	UNKNOWN	.	546	974	2	0	0	2	0.00102564	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000998403	.	.	.	.	.	.	.	.	0.0002689	7	26028	rs543650336	0	1.438e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	4.633e-05	0.0002	5.18e-05	4.062e-05	0.0002	2.123e-05	1.536e-05	1.983e-05	1.132e-05	0	0	0	0.0006	0	0	0	5.926e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.04167	4326.7	1119	chr12	40487685	.	C	T	4326.7	.	AC=1;AF=0.042;AN=24;BaseQRankSum=-1.03;DP=17759;ExcessHet=0;FS=2.525;InbreedingCoeff=-0.1343;MLEAC=1;MLEAF=0.042;MQ=59.5;MQRankSum=-8.586;QD=3.93;ReadPosRankSum=-5.929;SOR=0.915	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:931,171:1102:99:0|1:40487614_G_A:4337,0,38578:40487614	11	0	1	7
chr12	40487694	40487694	C	T	exonic	MUC19	.	unknown	UNKNOWN	.	551	970	1	0	0	1	0.000515198	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs2638871	0	4.314e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	7.338e-05	0.0002	6.519e-05	8.196e-05	0.0002	4.03e-05	3.17e-05	2.872e-05	1.877e-05	0	0	0	0.0012	0	9.619e-05	0	7.438e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.04167	5041.7	1119	chr12	40487694	.	C	T	5041.7	.	AC=1;AF=0.042;AN=24;BaseQRankSum=1.71;DP=17775;ExcessHet=0;FS=1.514;InbreedingCoeff=-0.1343;MLEAC=1;MLEAF=0.042;MQ=59.63;MQRankSum=-8.986;QD=4.58;ReadPosRankSum=-3.883;SOR=0.881	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:911,190:1101:99:0|1:40487614_G_A:5052,0,37342:40487614	11	0	1	7
chr12	40490164	40490164	G	A	exonic	MUC19	.	unknown	UNKNOWN	.	558	951	13	0	0	13	0.00678851	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1239347899	0	6.774e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0019	0.0002	0.0002	0.0013	0.0001	0.0001	0.0005	0.0003	8.235e-05	0	7.296e-05	0.0003	0	0.0002	0	0.0003	0	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	5674.33	1092	chr12	40490164	.	G	A	5674.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.86;DP=15169;ExcessHet=0;FS=1.465;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=54.5;MQRankSum=-13.37;QD=4.59;ReadPosRankSum=7.06;SOR=0.844	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1019,217:1236:99:0|1:40490164_G_A:5688,0,40569:40490164	18	0	1	0
chr12	40490179	40490179	T	A	exonic	MUC19	.	unknown	UNKNOWN	.	551	961	10	0	0	10	0.00517598	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1182144829	0	1.163e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0001	0.0010	0.0001	0.0001	0.0006	7.104e-05	5.758e-05	0.0002	9.04e-05	0	0	6.554e-05	0.0006	0	0	0	0.0002	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	.	.	.	.	.	.	.	.	0.02632	5218.33	1092	chr12	40490179	.	T	A	5218.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.84;DP=15123;ExcessHet=0;FS=1.548;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=54.29;MQRankSum=-11.75;QD=4.32;ReadPosRankSum=0.054;SOR=0.92	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1010,198:1208:99:0|1:40490164_G_A:5232,0,41649:40490164	18	0	1	0
chr12	40490203	40490232	GATAGCTGGACTCTCAGCTGGGGTGACAGA	-	exonic	MUC19	.	unknown	UNKNOWN	.	578	939	5	0	0	5	0.00265534	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1245414011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.648e-06	4.619e-05	1.298e-05	0	1.482e-05	0	0	.	.	0	0	0	0	0	0	0	1.482e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	3401.29	1092	chr12	40490202	.	GGATAGCTGGACTCTCAGCTGGGGTGACAGA	G	3401.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.6;DP=15229;ExcessHet=0;FS=5.425;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=53.05;MQRankSum=-9.44;QD=2.59;ReadPosRankSum=-10.69;SOR=1.194	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1150,164:1314:99:0|1:40490164_G_A:3415,0,47795:40490164	18	0	1	0
chr12	40490238	40490238	T	C	exonic	MUC19	.	unknown	UNKNOWN	.	570	950	2	0	0	2	0.00105152	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1309616104	2.647e-06	9.378e-06	0	5.727e-06	0.0003	4.4e-07	1.7e-07	.	.	0	0	0	0.0003	0	0	1.448e-06	0	0	0	0.0002	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	.	.	.	.	.	.	.	.	0.02941	1278.14	1053	chr12	40490238	.	T	C	1278.14	.	AC=1;AF=0.029;AN=34;BaseQRankSum=10.67;DP=15097;ExcessHet=0;FS=27.052;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.029;MQ=52.41;MQRankSum=-5.007;QD=1.2;ReadPosRankSum=-8.076;SOR=3.396	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:966,100:1066:99:0|1:40490164_G_A:1291,0,40261:40490164	16	0	1	2
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	.	.	.	.	.	.	.	.	0.25	1385.93	216	chr12	40509053	.	T	A	1385.93	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-0.103;DP=3219;ExcessHet=1.3;FS=2.065;InbreedingCoeff=-0.3398;MLEAC=7;MLEAF=0.35;MQ=59.41;MQRankSum=-11.22;QD=1.61;ReadPosRankSum=2.26;SOR=0.962	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:175,17:192:99:0|1:40509053_T_A:187,0,7247:40509053	5	0	5	9
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	.	.	.	.	.	.	.	.	0.25	1396.34	219	chr12	40509056	.	G	A	1396.34	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-0.348;DP=3149;ExcessHet=1.3;FS=2.086;InbreedingCoeff=-0.3341;MLEAC=7;MLEAF=0.35;MQ=59.38;MQRankSum=-11.72;QD=1.59;ReadPosRankSum=2.49;SOR=0.918	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:178,17:195:99:0|1:40509053_T_A:178,0,7383:40509053	5	0	5	9
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	.	.	.	.	.	.	.	.	0.25	1340.22	217	chr12	40509061	.	G	C	1340.22	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-0.07;DP=3190;ExcessHet=1.3;FS=0.986;InbreedingCoeff=-0.3424;MLEAC=7;MLEAF=0.35;MQ=59.42;MQRankSum=-11.56;QD=1.52;ReadPosRankSum=2.14;SOR=0.874	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:182,17:199:99:0|1:40509053_T_A:166,0,7561:40509053	5	0	5	9
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	.	.	.	.	.	.	.	.	0.3	1357.69	217	chr12	40509062	.	A	C	1357.69	.	AC=6;AF=0.3;AN=20;BaseQRankSum=0.081;DP=3187;ExcessHet=2.0135;FS=0.989;InbreedingCoeff=-0.3665;MLEAC=8;MLEAF=0.4;MQ=59.41;MQRankSum=-11.47;QD=1.32;ReadPosRankSum=2.13;SOR=0.881	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:181,17:198:99:0|1:40509053_T_A:169,0,7519:40509053	4	0	6	9
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	.	.	.	.	.	.	.	.	0.25	1399.28	221	chr12	40509076	.	G	A	1399.28	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-0.944;DP=2985;ExcessHet=1.3;FS=0;InbreedingCoeff=-0.3333;MLEAC=7;MLEAF=0.35;MQ=59.27;MQRankSum=-11.56;QD=1.61;ReadPosRankSum=1.76;SOR=0.701	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:183,16:199:99:0|1:40509076_G_A:121,0,7621:40509076	5	0	5	9
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	.	.	.	.	.	.	.	.	0.25	1381.28	214	chr12	40509081	.	T	C	1381.28	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-0.285;DP=2965;ExcessHet=1.3;FS=0;InbreedingCoeff=-0.3333;MLEAC=7;MLEAF=0.35;MQ=59.27;MQRankSum=-11.6;QD=1.58;ReadPosRankSum=2.07;SOR=0.706	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:186,16:202:99:0|1:40509076_G_A:112,0,7688:40509076	5	0	5	9
chr12	43795599	43795599	C	G	exonic	TWF1	.	nonsynonymous SNV	TWF1:NM_002822:exon9:c.G1039C:p.A347P,TWF1:NM_001242397:exon10:c.G1060C:p.A354P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	0.0144312544856	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.43708	D	0.117	0.37037	T	0.337	0.48047	B	0.062	0.46637	B	0.000683	0.42383	D	0.265516	0.639358	0.32861	D	0.69	0.16971	N	1.43	0.32958	T	-0.49	0.16187	N	0.149	0.18920	-1.0276	0.21233	T	0.049	0.20987	T	10	0.12374139	0.23494	T	0.014431	0.34542	T	0.104	0.29647	0.084	0.00795	0.585747170787	0.58248	0.23576959825458196	0.23491	0.817697198664	0.67010	0.534688055515	0.43694	T	0.075626	0.35223	T	-0.107292	0.35216	T	-0.391894	0.34330	T	0.621706008911133	0.37276	D	0.871313	0.57716	D	0.070835754	0.15635	0.13977225	0.33339	0.070835754	0.15634	0.13977225	0.33338	-2.734	0.07593	T	.	.	0.091	0.13080	B	.;.;.	.;.;.	3.367160	0.46514	22.3	0.99639446999657821	0.76571	0.97889	0.77893	D	AEFDGBI	0.576261	0.57832	D	-0.035313430903305	0.40260	2.387949	0.0870892113881607	0.43898	2.682109	0.999123301601903	0.38507	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.24	4.34	0.51267	1.347000	0.33580	3.360000	0.37852	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.719:0.0:0.281	8.911	0.34714	595	0.68488	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1923	164.42	118	chr12	43795599	.	C	G	164.42	.	AC=5;AF=0.192;AN=26;BaseQRankSum=-2.95;DP=2476;ExcessHet=1.3;FS=200.31;InbreedingCoeff=-0.2578;MLEAC=5;MLEAF=0.192;MQ=57.86;MQRankSum=-0.659;QD=0.28;ReadPosRankSum=1.47;SOR=12.301	GT:AD:DP:GQ:PL	0/1:105,34:142:15:15,0,1884	8	0	5	6
chr12	48905022	48905022	G	A	exonic	CCDC65	.	nonsynonymous SNV	CCDC65:NM_033124:exon2:c.G209A:p.R70Q	Ciliary dyskinesia, primary, 27, Autosomal recessive	428	1093	1	0	0	1	0.000457247	.	.	.	568052	Inborn_genetic_diseases|Primary_ciliary_dyskinesia_27	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014215,MedGen:C3809701,OMIM:615504,Orphanet:244	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.331	0.0153800980824	.	.	2.476e-05	0	0	0	0	4.501e-05	0	0	1.94e-05	3	154602	rs772291948	2.942e-05	2.941e-05	2.178e-05	3.713e-05	0.0005	2.217e-05	1.97e-05	0.0001	7.541e-05	0	0	0	2.519e-05	7.488e-05	0.0005	2.159e-05	0.0001	4.639e-05	1.315e-05	1.313e-05	0	2.691e-05	1.47e-05	2.18e-06	8.2e-07	.	.	0	0	0	0	0	9.423e-05	0	1.47e-05	0	0	0.006	0.91255	D	0.021	0.58613	D	1.0	0.90584	D	0.999	0.92359	D	0.000013	0.62929	D	0.064020	1	0.81001	D	.	.	.	0.95	0.55608	T	-3.52	0.68412	D	0.87	0.86725	-0.2540	0.76251	T	0.387	0.74202	T	10	0.5086362	0.61966	D	0.01538	0.36078	T	0.331	0.65325	0.562	0.68229	0.252681307341	0.24864	0.26475200721778475	0.26388	0.354352016501	0.37210	0.486807882786	0.36996	T	0.141231	0.47618	T	0.0967204	0.63937	D	-0.00199025	0.70206	D	0.980159997940063	0.73207	D	0.892511	0.62902	D	0.45200983	0.64168	0.3541702	0.60966	0.45200983	0.64169	0.3541702	0.60965	-7.654	0.59216	D	.	.	0.139	0.48593	B	.;.;.	.;.;.	5.186493	0.86974	29.1	0.99957836183004622	0.99986	0.93856	0.59389	D	AEFDGBI	0.641234	0.61864	D	0.815168753804776	0.87046	9.084591	0.751394395210542	0.86259	8.833001	0.999998864848252	0.74766	0.549168	0.22868	0	0.547309	0.14657	0	0.547309	0.15389	0	0.616125	0.45549	0	.	.	5.0	5.0	0.66209	7.508000	0.80566	11.719000	0.94784	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	17.608	0.87944	579	0.69780	.;Dynein regulatory complex protein 1/2, N-terminal;Dynein regulatory complex protein 1/2, 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	.	.	.	.	.	.	.	.	0.02632	1451.33	33	chr12	48905022	.	G	A	1451.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.19;DP=745;ExcessHet=0;FS=1.507;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.84;ReadPosRankSum=1.14;SOR=0.867	GT:AD:DP:GQ:PL	0/1:55,58:113:99:1465,0,1199	18	0	1	0
chr12	49037926	49037926	C	T	exonic	KMT2D	.	nonsynonymous SNV	KMT2D:NM_003482:exon35:c.G9430A:p.A3144T	Kabuki syndrome 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1328809	Kabuki_syndrome|not_specified|KMT2D-related_disorder|Inborn_genetic_diseases	MONDO:MONDO:0016512,MedGen:C0796004,OMIM:PS147920,Orphanet:2322|MedGen:CN169374|.|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.178	0.253009123971	.	.	3.035e-05	0	0.0002	0	0	2.747e-05	0	0	1.29e-05	2	154602	rs752428122	1.24e-05	1.3e-05	1.232e-05	1.247e-05	0.0003	7.75e-06	6.39e-06	9.103e-05	6.702e-05	0	0.0002	0	5.086e-05	0	0.0003	4.514e-06	1.665e-05	0	3.942e-05	3.94e-05	1.284e-05	6.724e-05	0.0003	1.715e-05	1.129e-05	8.878e-05	5.387e-05	0	0	0.0003	0	0	0	0	2.939e-05	0	0	0.129	0.26852	T	.	.	.	0.043	0.21573	B	0.017	0.18140	B	0.043619	0.23722	N	0.212531	1	0.08975	N	0	0.06538	N	-1.62	0.82347	D	-1.29	0.32387	N	0.044	0.01658	-0.7853	0.56002	T	0.253	0.62292	T	10	0.03325048	0.01496	T	0.253009	0.89194	D	0.178	0.44724	0.123	0.02942	0.082315109003	0.07666	0.12279468932725274	0.12205	0.422470740977	0.42747	0.301165550947	0.10574	T	0.043925	0.26654	T	-0.368594	0.03666	T	-0.507557	0.21566	T	0.0376071967184544	0.03262	T	0.525647	0.17278	T	0.022370396	0.00896	0.042457864	0.05062	0.022370396	0.00895	0.042457864	0.05062	-4.455	0.30296	T	.	.	0.061	0.01179	B	.	.	1.579542	0.20215	14.64	0.76168846912515853	0.11360	0.11652	0.16774	N	AEFDBCI	0.035248	0.04504	N	-0.813734449425228	0.12959	0.6351492	-0.709310308876279	0.16729	0.8863369	0.0900603874635109	0.16100	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.56	2.58	0.30011	0.141000	0.15897	0.245000	0.16356	-0.171000	0.11205	0.003000	0.16062	0.400000	0.24706	0.964000	0.52637	0.1436:0.6407:0.1388:0.0769	5.576	0.16506	389	0.83303	.	.	.	.	.	.	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	0.000504	0.000000	0.002725	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1195.33	33	chr12	49037926	.	C	T	1195.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.26;DP=756;ExcessHet=0;FS=1.457;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.64;ReadPosRankSum=-0.21;SOR=0.85	GT:AD:DP:GQ:PL	0/1:75,49:124:99:1209,0,1836	18	0	1	0
chr12	51706661	51706661	G	C	exonic	SCN8A	.	nonsynonymous SNV	SCN8A:NM_001177984:exon11:c.G1581C:p.K527N,SCN8A:NM_001330260:exon11:c.G1581C:p.K527N,SCN8A:NM_001369788:exon11:c.G1581C:p.K527N,SCN8A:NM_014191:exon11:c.G1581C:p.K527N	Epileptic encephalopathy, early infantile, 13, Autosomal dominant;Seizures, benign familial infantile, 5, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.252	0.0719142025239	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.392e-06	3.968e-05	1.38e-06	1.404e-06	3.092e-05	2.3e-07	9e-08	.	.	3.092e-05	0	0	0	0	0	9.097e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.72154	D	0.223	0.33109	T	0.431	0.35606	B	0.315	0.41566	B	0.000179	0.48594	D	0.184301	0.816986	0.28930	N	2.195	0.61839	M	-2.82	0.91192	D	-2.89	0.62747	D	0.442	0.53445	0.033	0.82901	D	0.626	0.86854	D	10	0.24059924	0.41222	T	0.071914	0.71394	D	0.252	0.56159	0.33	0.31519	0.902646408154	0.90167	0.5674523308067984	0.56673	1.41807407564	0.85568	0.605724453926	0.53712	T	0.703665	0.91489	D	-0.0247068	0.48179	T	-0.273266	0.47488	T	0.927446901798248	0.59031	D	0.789921	0.45664	T	0.2993846	0.52850	0.29699904	0.55732	0.2993846	0.52850	0.29699904	0.55732	-3.007	0.12177	T	.	.	0.476	0.68156	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.650273	0.34508	19.65	0.9983572789978995	0.91714	0.18883	0.20441	N	AEFBI	0.095722	0.19336	N	-0.290515847983622	0.29512	1.637351	-0.293922467393298	0.28298	1.576831	0.186781275037378	0.17948	0.706548	0.73137	0	0.59043	0.45803	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.41	2.46	0.29032	0.104000	0.15148	1.189000	0.24752	0.676000	0.76740	0.600000	0.27747	1.000000	0.68203	0.996000	0.76049	0.4379:0.0:0.5621:0.0	7.062	0.24310	579	0.69780	Voltage-gated Na+ ion channel, cytoplasmic domain;Voltage-gated Na+ ion channel, cytoplasmic domain;.;.;.;.;Voltage-gated Na+ ion channel, cytoplasmic 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	.	.	.	.	.	.	.	.	0.2941	1136.65	43	chr12	51706661	.	G	C	1136.65	.	AC=10;AF=0.294;AN=34;BaseQRankSum=-2.366;DP=1341;ExcessHet=6.9875;FS=163.767;InbreedingCoeff=-0.4405;MLEAC=11;MLEAF=0.324;MQ=60;MQRankSum=0;QD=1.7;ReadPosRankSum=1.93;SOR=11.652	GT:AD:DP:GQ:PL	0/1:38,21:67:99:185,0,531	7	0	10	2
chr12	53487100	53487100	G	A	exonic	MAP3K12	.	nonsynonymous SNV	MAP3K12:NM_001193511:exon2:c.C292T:p.P98S,MAP3K12:NM_006301:exon3:c.C193T:p.P65S	.	421	1100	1	0	0	1	0.000454339	.	.	.	2197325	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.148	0.0595773612706	.	.	3.298e-05	0	0	0	0	6.001e-05	0	0	2.59e-05	4	154602	rs758333503	7.525e-06	7.524e-06	5.445e-06	9.626e-06	0.0005	4.04e-06	2.95e-06	0.0001	7.541e-05	0	0	0	0	0	0.0005	6.295e-06	1.656e-05	0	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	0.565	0.06282	T	0.89	0.03214	T	0.002	0.09854	B	0.001	0.04355	B	0.000815	0.41658	D	0.000000	0.995855	0.42890	D	-0.69	0.01958	N	-0.95	0.75438	T	-1.39	0.34397	N	0.486	0.52029	-0.8503	0.51948	T	0.174	0.51801	T	10	0.109021544	0.20320	T	0.059577	0.67710	D	0.148	0.39182	0.226	0.15109	0.499560901647	0.49592	0.43390089366577306	0.43307	0.4724646507	0.46487	0.535342991352	0.43788	T	0.103076	0.41140	T	-0.179793	0.23766	T	-0.388379	0.34741	T	0.112345731089467	0.13665	T	0.783222	0.41972	T	0.087248035	0.20310	0.09714349	0.23110	0.087248035	0.20309	0.09714349	0.23110	-4.122	0.29840	T	.	.	0.068	0.03849	B	.;.;.	.;.;.	2.906868	0.38547	20.8	0.67582885047468	0.08398	0.60513	0.31217	D	AEFDGBCI	0.285236	0.39791	N	-0.448945742795751	0.23776	1.279172	-0.29924198828088	0.28123	1.565612	0.999998116303456	0.74766	0.650006	0.45971	0	0.577304	0.33150	0	0.606735	0.37207	0	0.636168	0.56350	0	.	.	4.87	3.93	0.44666	0.361000	0.20003	9.495000	0.80900	0.662000	0.56354	0.821000	0.30003	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.8497:0.1503	14.091	0.64516	587	0.69154	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1398.33	33	chr12	53487100	.	G	A	1398.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.531;DP=737;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.6;ReadPosRankSum=-0.124;SOR=0.645	GT:AD:DP:GQ:PL	0/1:54,57:111:99:1412,0,1392	18	0	1	0
chr12	54363394	54363394	G	A	exonic	GPR84	.	nonsynonymous SNV	GPR84:NM_020370:exon2:c.C458T:p.A153V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.403	0.0237397125168	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1345501624	2.755e-06	2.742e-06	1.372e-06	4.151e-06	3.627e-06	6.5e-07	4.4e-07	8.5e-07	5.7e-07	0	0	0	0	0	0	3.627e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.45756	D	0.011	0.64786	D	1.0	0.90584	D	0.991	0.79672	D	0.000478	0.44119	D	0.088981	0.999998	0.58761	D	1.465	0.36909	L	-0.52	0.70717	T	0.23	0.04613	N	0.196	0.21580	-0.5516	0.66726	T	0.368	0.72788	T	10	0.3502603	0.51901	T	0.02374	0.46713	T	0.403	0.71636	0.571	0.69431	0.809007091605	0.80721	0.2760080514280935	0.27513	0.162976829088	0.18394	0.490764260292	0.37544	T	0.005184	0.04625	T	0.118655	0.66237	D	-0.0673364	0.65815	T	0.74129194021225	0.42806	D	0.725127	0.33902	T	0.11525833	0.27201	0.15893412	0.37092	0.11525833	0.27201	0.15893412	0.37091	-4.201	0.26766	T	.	.	0.081	0.08224	B	.;.	.;.	3.791423	0.54572	23.5	0.99915949351705269	0.98379	0.88390	0.48296	D	AEFBI	0.518746	0.54431	D	0.36141034936137	0.59345	4.113099	0.384589246084373	0.60614	4.250998	0.999999998215978	0.74766	0.497415	0.19182	0	0.541556	0.11502	0	0.59043	0.30614	0	0.542086	0.14980	0	.	.	5.02	5.02	0.66742	1.850000	0.38968	5.121000	0.47587	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.822000	0.38733	0.0:0.0:1.0:0.0	16.201	0.81895	686	0.59327	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	.	.	.	.	.	.	.	.	0.1562	209.59	144	chr12	54363394	.	G	A	209.59	.	AC=5;AF=0.156;AN=32;BaseQRankSum=-4.23;DP=1750;ExcessHet=1.3;FS=194.631;InbreedingCoeff=-0.21;MLEAC=6;MLEAF=0.188;MQ=60;MQRankSum=0;QD=0.43;ReadPosRankSum=0.681;SOR=9.84	GT:AD:DP:GQ:PL	0/1:76,30:106:53:53,0,1635	11	0	5	3
chr12	56169779	56169779	T	C	exonic	SMARCC2	.	nonsynonymous SNV	SMARCC2:NM_003075:exon23:c.A2452G:p.I818V,SMARCC2:NM_001130420:exon24:c.A2545G:p.I849V,SMARCC2:NM_001330288:exon24:c.A2545G:p.I849V,SMARCC2:NM_139067:exon24:c.A2545G:p.I849V	.	408	1112	1	1	0	3	0.0013471	.	.	.	3732992	Coffin-Siris_syndrome_8	MONDO:MONDO:0032702,MedGen:C5193054,OMIM:618362	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.019	0.00336254528447	0.0002	0.000199681	0.0001	0.0002	0	0	0.0002	0.0002	0	0	0.0001229	19	154602	rs199867483	0.0001	0.0001	0.0001	0.0001	0.0024	0.0001	0.0001	0.0015	0.0012	8.961e-05	0.0001	7.653e-05	0	3.745e-05	0.0024	0.0001	0.0002	5.797e-05	9.851e-05	9.842e-05	8.995e-05	0.0001	0.0002	6.003e-05	4.877e-05	9.049e-05	7.013e-05	2.406e-05	0	6.539e-05	0	0	0	0	0.0002	0.0009	0	0.903	0.09572	T	0.643	0.06903	T	0.0	0.02946	B	0.0	0.01387	B	0.397826	0.04516	N	1.359380	1	0.08975	N	-0.55	0.02420	N	1.19	0.41750	T	0.4	0.03463	N	0.1	0.08227	-1.0387	0.17709	T	0.047	0.20275	T	10	0.014343262	0.00302	T	0.003363	0.07512	T	0.019	0.03383	.	.	0.253981072376	0.25009	0.06389713169457839	0.06328	0.754518039693	0.63944	0.247512504458	0.03510	T	0.005965	0.27439	T	-0.505074	0.00535	T	-0.668446	0.07708	T	0.00703889746555691	0.00080	T	0.711729	0.32279	T	0.034970645	0.04029	0.028773911	0.01146	0.034970645	0.04028	0.028773911	0.01146	-1.62	0.02342	T	.	.	0.053	0.00274	B	.;.;.;.	.;.;.;.	2.812035	0.37022	20.4	0.75761297507529946	0.11201	0.05814	0.11753	N	AEFGBCI	0.042206	0.06520	N	-1.02153297738787	0.08158	0.3815237	-0.95438996448813	0.10821	0.5475246	0.995973899786649	0.34444	0.722319	0.85440	0	0.702456	0.74545	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.17	-0.506	0.11391	-1.452000	0.02492	-2.266000	0.03976	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.992000	0.67800	0.0:0.3113:0.1331:0.5557	6.039	0.18948	252	0.90114	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002518	0.000000	0.005435	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	2632.33	34	chr12	56169779	.	T	C	2632.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.926;DP=886;ExcessHet=0;FS=2.256;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.44;ReadPosRankSum=1.05;SOR=0.88	GT:AD:DP:GQ:PL	0/1:126,104:230:99:2646,0,3244	18	0	1	0
chr12	56270210	56270210	G	C	exonic	COQ10A	.	nonsynonymous SNV	COQ10A:NM_001099337:exon5:c.G541C:p.V181L,COQ10A:NM_144576:exon5:c.G637C:p.V213L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.217	0.010828468459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.32610	T	0.04	0.50809	D	0.938	0.52538	P	0.874	0.62049	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.56	0.74772	M	1.43	0.32958	T	-2.21	0.49684	N	0.714	0.71676	-0.8007	0.55103	T	0.192	0.54492	T	10	0.727894	0.74097	D	0.010828	0.27810	T	0.217	0.51112	0.699	0.83592	0.512021964565	0.50844	0.6356950363655839	0.63503	0.864914079096	0.69159	0.823466300964	0.85559	D	0.127331	0.45429	T	0.0724855	0.61149	D	-0.133656	0.60664	T	0.911658483548394	0.56729	D	0.940206	0.77406	D	0.37227407	0.58753	0.34089497	0.59836	0.37227407	0.58753	0.34089497	0.59835	-9.143	0.68613	D	.	.	0.929	0.85176	P	.;.;.	.;.;.	4.982225	0.82536	27.8	0.9977931989567298	0.86606	0.99286	0.93967	D	AEFDBCI	0.915484	0.88032	D	0.823174144344843	0.87531	9.250757	0.800860528185597	0.89854	10.14908	0.999999999997406	0.74766	0.706548	0.73137	0	0.552637	0.17590	0	0.724815	0.87919	0	0.549297	0.17558	0	.	.	4.96	4.96	0.65153	9.910000	0.98672	11.833000	0.97585	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	17.517	0.87673	362	0.84826	Coenzyme Q-binding protein COQ10, START 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	.	.	.	.	.	.	.	.	0.0625	42.62	119	chr12	56270210	.	G	C	42.62	.	AC=2;AF=0.063;AN=32;BaseQRankSum=-4.192;DP=2004;ExcessHet=0.119;FS=216.299;InbreedingCoeff=-0.1135;MLEAC=2;MLEAF=0.063;MQ=60;MQRankSum=0;QD=0.17;ReadPosRankSum=1.71;SOR=10.494	GT:AD:DP:GQ:PL	0/1:105,39:144:18:18,0,1967	14	0	2	3
chr12	56716773	56716773	G	C	exonic	NACA	.	nonsynonymous SNV	NACA:NM_001365896:exon3:c.C4757G:p.T1586S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.00305659900259	.	.	9.816e-06	0	0	0	0	1.699e-05	0	0	6.5e-06	1	154602	rs767225318	1.64e-06	2.736e-06	1.602e-06	1.679e-06	2.057e-06	2.7e-07	1e-07	3.4e-07	1.3e-07	0	0	0	0	0	0	2.057e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.52492	D	0.991	0.02359	T	0.068	0.23728	B	0.014	0.16862	B	.	.	.	.	1	0.08975	N	.	.	.	0.86	0.46777	T	0.5	0.02945	N	0.101	0.08366	-1.0337	0.19268	T	0.064	0.26420	T	7	0.065919876	0.08966	T	0.003057	0.06606	T	0.039	0.10176	0.258	0.20002	0.143124449307	0.13826	.	.	.	.	.	.	.	0.054013	0.29605	T	-0.338711	0.05478	T	-0.678114	0.07099	T	0.0160011250896684	0.00381	T	0.29797	0.05545	T	0.088434465	0.20628	0.04913326	0.07443	0.088434465	0.20628	0.04913326	0.07442	-6.613	0.51153	T	.	.	0.185	0.40065	B	.	.	0.222103	0.06044	2.485	0.22551627331878571	0.00912	0.30145	0.24006	N	AEFDBHCI	0.103815	0.20788	N	-0.895325869115206	0.10953	0.5260411	-0.976878655503586	0.10306	0.5182001	0.999970967611248	0.50053	0.729952	0.87565	0	0.585951	0.33947	0	0.536957	0.11973	0	0.636168	0.56350	0	.	.	3.89	0.899	0.18403	0.283000	0.18605	0.707000	0.20898	0.520000	0.23804	0.000000	0.06391	0.034000	0.21380	0.175000	0.21139	0.2912:0.0:0.546:0.1628	4.156	0.09728	45	0.97767	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1944	296.73	32	chr12	56716773	.	G	C	296.73	.	AC=7;AF=0.194;AN=36;BaseQRankSum=-3.781;DP=1467;ExcessHet=2.9153;FS=130.34;InbreedingCoeff=-0.2316;MLEAC=7;MLEAF=0.194;MQ=60;MQRankSum=0;QD=0.45;ReadPosRankSum=0.525;SOR=10.021	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:75,19:99:99:.:.:102,0,1791:.	11	0	7	1
chr12	57254967	57254967	C	-	exonic	R3HDM2	.	frameshift deletion	R3HDM2:NM_001351217:exon22:c.2683delG:p.D895Tfs*41,R3HDM2:NM_001351213:exon23:c.2785delG:p.D929Tfs*41,R3HDM2:NM_001351214:exon23:c.2785delG:p.D929Tfs*41,R3HDM2:NM_001351215:exon23:c.2785delG:p.D929Tfs*41,R3HDM2:NM_001351216:exon23:c.2773delG:p.D925Tfs*41,R3HDM2:NM_001351218:exon23:c.2683delG:p.D895Tfs*41,R3HDM2:NM_001330122:exon24:c.2839delG:p.D947Tfs*41,R3HDM2:NM_001330123:exon24:c.2707delG:p.D903Tfs*41,R3HDM2:NM_001351208:exon24:c.2881delG:p.D961Tfs*41,R3HDM2:NM_001351209:exon24:c.2833delG:p.D945Tfs*41,R3HDM2:NM_001351212:exon24:c.2785delG:p.D929Tfs*41,R3HDM2:NM_014925:exon24:c.2737delG:p.D913Tfs*41,R3HDM2:NM_001330121:exon25:c.2839delG:p.D947Tfs*41,R3HDM2:NM_001351205:exon25:c.2935delG:p.D979Tfs*41,R3HDM2:NM_001351206:exon25:c.2935delG:p.D979Tfs*41,R3HDM2:NM_001351211:exon25:c.2803delG:p.D935Tfs*41,R3HDM2:NM_001351204:exon26:c.2935delG:p.D979Tfs*41,R3HDM2:NM_001351207:exon27:c.2905delG:p.D969Tfs*41	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003458	9	26028	.	6.843e-07	1.642e-05	1.362e-06	0	8.996e-07	0	0	.	.	0	0	0	0	0	0	8.996e-07	0	0	6.595e-06	6.574e-06	0	1.351e-05	1.473e-05	0	0	.	.	0	0	0	0	0	0	0	1.473e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1400.29	34	chr12	57254966	.	TC	T	1400.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.53;DP=742;ExcessHet=0;FS=4.685;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.73;ReadPosRankSum=1.56;SOR=0.914	GT:AD:DP:GQ:PL	0/1:54,56:110:99:1414,0,1317	18	0	1	0
chr12	59775224	59775224	G	T	exonic	SLC16A7	.	nonsynonymous SNV	SLC16A7:NM_004731:exon4:c.G929T:p.R310L,SLC16A7:NM_001270622:exon5:c.G929T:p.R310L,SLC16A7:NM_001270623:exon5:c.G929T:p.R310L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.833	0.146720466741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.003	0.76473	D	1.0	0.90584	D	1.0	0.97372	D	0.000036	0.55875	D	0.124508	1	0.81001	D	2.785	0.81254	M	-1.47	0.81067	T	-6.53	0.91741	D	0.925	0.95956	0.631	0.92301	D	0.759	0.91781	D	9	0.898949	0.89253	D	0.14672	0.82881	D	0.833	0.94728	0.704	0.84054	0.975196573608	0.97492	0.8615290949045438	0.86116	0.420991030919	0.42612	0.485399693251	0.36801	T	0.472107	0.80452	T	0.416292	0.90823	D	0.360198	0.90711	D	0.995364665985107	0.87292	D	0.973103	0.90315	D	0.8869511	0.90248	0.80994654	0.88896	0.8869511	0.90249	0.80994654	0.88897	-10.984	0.79571	D	.	.	0.942	0.86433	P	.;.;.;.;.	.;.;.;.;.	5.291548	0.88845	29.8	0.99857036367896801	0.93548	0.99326	0.94534	D	AEFI	0.873590	0.79603	D	0.930961832814971	0.93192	11.87974	0.862177799991345	0.93708	12.22417	0.999999999406563	0.74766	0.638212	0.43195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.668105	0.65232	0	.	.	5.76	5.76	0.90726	10.003000	0.99689	11.912000	0.99606	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.756000	0.36000	0.0:0.0:1.0:0.0	20.343	0.98774	892	0.26670	Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	2595.33	35	chr12	59775224	.	G	T	2595.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.943;DP=851;ExcessHet=0;FS=4.753;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.18;ReadPosRankSum=-0.469;SOR=1.008	GT:AD:DP:GQ:PL	0/1:114,99:213:99:2609,0,2966	18	0	1	0
chr12	85056648	85056648	G	A	exonic	LRRIQ1	.	nonsynonymous SNV	LRRIQ1:NM_001079910:exon8:c.G1855A:p.E619K	.	446	1064	12	0	0	12	0.00560748	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	.	0.0078	0.00339457	0.0093	0.0023	0.0057	0	0.0132	0.0142	0.0025	0.0010	0.0084346	1304	154602	rs74720621	0.0093	0.0094	0.0093	0.0094	0.0104	0.0092	0.0091	0.0102	0.0102	0.0016	0.0057	0.0140	0	0.0126	0.0069	0.0104	0.0097	0.0010	0.0073	0.0073	0.0077	0.0070	0.0112	0.0070	0.0068	0.0106	0.0103	0.0020	0.0077	0.0048	0.0136	0	0.0112	0	0.0112	0.0109	0.0004	0.019	0.50132	D	0.086	0.40909	T	0.807	0.45251	P	0.294	0.40804	B	0.380378	0.13398	N	0.664291	0.819151	0.28904	N	1.83	0.48079	L	0.62	0.53302	T	-1.71	0.40660	N	0.125	0.11769	-1.0271	0.21396	T	0.062	0.25923	T	10	0.005256653	0.00115	T	.	.	.	0.079	0.23065	.	.	0.499281839539	0.49564	0.04486021890491467	0.04430	0.0130449640453	0.01258	0.399192720652	0.24956	T	0.001626	0.01056	T	-0.539119	0.00339	T	-0.536795	0.18613	T	0.0160685667187989	0.00386	T	0.662034	0.27102	T	0.18785515	0.40258	0.18056984	0.40864	0.18785515	0.40258	0.18056984	0.40863	-4.491	0.30770	T	.	.	0.08	0.07793	B	.	.	3.143670	0.42526	21.6	0.99765514168875691	0.85417	0.93977	0.59744	D	AEFBI	0.204645	0.33106	N	0.0265687284998157	0.43065	2.606883	0.0227215858961721	0.40771	2.43866	0.15760454808273	0.17542	0.549168	0.22868	0	0.573888	0.26702	0	0.573888	0.23631	0	0.616125	0.45549	0	.	.	5.32	5.32	0.75377	3.094000	0.49919	5.141000	0.47710	0.618000	0.50648	0.998000	0.41325	1.000000	0.68203	0.049000	0.15107	0.0767:0.0:0.9233:0.0	13.672	0.61911	922	0.19044	.	.	.	.	.	.	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	0.006552	0.015152	0.009511	0.008824	0.000000	0.008621	0.000000	0.000000	0.02632	1065.33	34	chr12	85056648	.	G	A	1065.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.972;DP=728;ExcessHet=0;FS=1.955;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15;ReadPosRankSum=-0.426;SOR=0.885	GT:AD:DP:GQ:PL	0/1:35,36:71:99:1079,0,970	18	0	1	0
chr12	96786774	96786774	T	A	exonic	CFAP54	.	nonsynonymous SNV	CFAP54:NM_001306084:exon62:c.T8555A:p.F2852Y,CFAP54:NM_001367885:exon63:c.T8750A:p.F2917Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.00901065883127	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	0.39575	D	0.235	0.24767	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	-0.51	0.15986	N	0.2	0.22098	-0.9249	0.44872	T	0.079	0.31496	T	5	0.11306986	0.21230	T	0.009011	0.23726	T	0.019	0.03383	0.227	0.15257	0.0611884634855	0.05136	0.05004793283965644	0.04947	0.0391274229948	0.04164	.	.	.	0.01239	0.10895	T	-0.297825	0.08866	T	-0.665582	0.07895	T	0.0916585185429961	0.11414	T	0.177582	0.01737	T	0.101305954	0.23930	0.062406413	0.12205	0.101305954	0.23930	0.062406413	0.12205	-3.753	0.20104	T	.	.	0.063	0.01428	B	.	.	0.844538	0.12165	8.712	0.85798846426633624	0.16119	0.02642	0.07243	N	AEBI	0.032582	0.03708	N	-0.58032002096164	0.19543	1.023641	-0.646647212892604	0.18302	0.9770567	0.00393886198522242	0.10346	0.615465	0.37627	0	0.588015	0.36545	0	0.573888	0.23631	0	0.655142	0.61905	0	.	.	5.93	-3.89	0.03916	-0.147000	0.10218	0.160000	0.15395	-0.184000	0.09925	0.164000	0.23853	0.010000	0.20010	0.987000	0.62547	0.4228:0.0:0.3451:0.2321	6.532	0.21531	694	0.58444	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1285.33	34	chr12	96786774	.	T	A	1285.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.205;DP=713;ExcessHet=0;FS=1.726;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.97;ReadPosRankSum=-1.899;SOR=0.584	GT:AD:DP:GQ:PL	0/1:35,57:92:99:1299,0,742	18	0	1	0
chr12	103979899	103979899	C	A	exonic	TDG	.	nonsynonymous SNV	TDG:NM_003211:exon3:c.C235A:p.P79T	.	436	1070	16	0	0	16	0.00742115	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	.	.	.	0.0052	0.0004	0.0023	0	0.0008	0.0031	0.0056	0.0231	0.0041849	647	154602	rs758388260	0.0022	0.0041	0.0016	0.0028	0.0160	0.0021	0.0021	0.0153	0.0150	0.0002	0.0011	0.0055	2.52e-05	0.0005	0.0044	0.0013	0.0027	0.0160	0.0010	0.0030	0.0008	0.0011	0.0086	0.0009	0.0008	0.0065	0.0058	0.0002	0	0.0008	0.0029	0	0.0002	0.0035	0.0011	0.0009	0.0086	0.023	0.48186	D	0.018	0.59732	D	0.004	0.12183	B	0.002	0.06944	B	0.000280	0.46590	D	0.226724	0.999435	0.81001	D	1.87	0.49600	L	2.21	0.46028	T	-1.65	0.50337	N	0.178	0.20129	-0.9981	0.30451	T	0.121	0.42208	T	10	0.004401505	0.00090	T	.	.	.	0.044	0.11924	.	.	0.71034540647	0.70781	0.47358462202903356	0.47277	0.609113261058	0.55654	0.382329493761	0.22587	T	0.148085	0.48647	T	-0.141711	0.29619	T	-0.441334	0.28658	T	0.0495586411044562	0.05423	T	0.729627	0.35417	T	0.07418007	0.16629	0.06795538	0.14129	0.07418007	0.16629	0.06795538	0.14129	-5.529	0.42139	T	.	.	0.053	0.01692	B	.;.;.;.	.;.;.;.	2.252065	0.28770	17.91	0.97314621209408192	0.33346	0.95896	0.66622	D	AEFGBI	0.270118	0.38625	N	-0.216092292811573	0.32472	1.831733	-0.212287760807896	0.31094	1.756544	0.997830341347561	0.36087	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.19	2.27	0.27501	2.670000	0.46499	1.350000	0.25801	0.599000	0.40250	0.940000	0.32642	0.004000	0.18990	0.951000	0.49849	0.0:0.7321:0.1267:0.1411	8.449	0.32019	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	0.012588	0.015152	0.008152	0.008772	0.000000	0.008621	0.018293	0.022727	0.05263	857.83	40	chr12	103979899	.	C	A	857.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.44;DP=1034;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=55.18;MQRankSum=-6.775;QD=4.69;ReadPosRankSum=0.759;SOR=0.725	GT:AD:DP:GQ:PL	0/1:40,17:57:99:429,0,1163	17	0	2	0
chr12	108799183	108799183	C	T	exonic	SSH1	.	nonsynonymous SNV	SSH1:NM_001161331:exon12:c.G1199A:p.C400Y,SSH1:NM_001161330:exon13:c.G1166A:p.C389Y,SSH1:NM_018984:exon13:c.G1166A:p.C389Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.902	0.215838779593	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.992	0.80445	D	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	2.565	0.75005	M	-2.03	0.85613	D	-8.61	0.98237	D	0.896	0.93135	0.731	0.93565	D	0.789	0.92843	D	10	0.9083365	0.90198	D	0.215839	0.87528	D	0.902	0.97286	0.594	0.72371	0.946598022835	0.94603	0.9392735801354261	0.93908	1.15822426379	0.79403	0.926552414894	0.98781	D	0.842015	0.96324	D	0.450	0.92496	D	0.409048	0.92404	D	0.999198853969574	0.96500	D	0.974802	0.91047	D	0.9275484	0.93991	0.9551224	0.98701	0.9275484	0.93992	0.9551224	0.98701	-14.85	0.95491	D	.	.	0.998	0.97755	P	.;.;.	.;.;.	5.808005	0.93643	33	0.99761739569647756	0.85091	0.95875	0.66529	D	AEFDBCIJ	0.916710	0.88328	D	0.903384765271185	0.91925	11.13784	0.857225187144014	0.93432	12.03812	1.0	0.98316	0.722319	0.85440	0	0.702456	0.74545	0	0.608884	0.39905	0	0.735409	0.98432	0	.	.	5.27	5.27	0.73797	7.905000	0.86479	7.625000	0.62478	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	19.293	0.94097	872	0.31118	Dual specificity phosphatase, catalytic domain|Dual specificity protein phosphatase domain|Tyrosine specific protein phosphatases domain|Dual specificity protein phosphatase domain|Dual specificity protein phosphatase 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	.	.	.	.	.	.	.	.	0.02632	902.33	33	chr12	108799183	.	C	T	902.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.719;DP=708;ExcessHet=0;FS=1.799;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11;ReadPosRankSum=-1.194;SOR=0.927	GT:AD:DP:GQ:PL	0/1:43,39:82:99:916,0,1083	18	0	1	0
chr12	109246356	109246356	G	A	exonic	ACACB	.	nonsynonymous SNV	ACACB:NM_001093:exon39:c.G5479A:p.V1827M	.	415	1106	0	1	0	2	0.000903342	.	.	.	3417442	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.766	0.259613303569	.	0.000199681	1.648e-05	0	0	0	0	1.499e-05	0	6.056e-05	1.94e-05	3	154602	rs563984467	4.515e-05	4.515e-05	3.947e-05	5.088e-05	0.0002	3.641e-05	3.321e-05	8.885e-05	7.053e-05	0.0001	0.0001	0	0.0002	0	0.0002	2.878e-05	4.967e-05	0.0002	0.0001	0.0001	0.0001	0.0001	0.0008	7.138e-05	5.786e-05	0.0003	0.0002	9.728e-05	0	0.0001	0	0.0008	9.566e-05	0	5.894e-05	0	0.0004	0.003	0.68238	D	0.006	0.70582	D	0.985	0.61118	D	0.743	0.55802	P	0.001063	0.40389	N	0.233514	0.930616	0.28627	N	1.735	0.44892	L	-5.06	0.98629	D	-1.54	0.37375	N	0.527	0.55626	0.773	0.94076	D	0.907	0.96932	D	10	0.29740834	0.47302	T	0.259613	0.89453	D	0.766	0.92087	0.597	0.72739	0.670013592873	0.66722	0.7146101834651575	0.71404	0.672002035909	0.59500	0.360275506973	0.19426	T	0.710038	0.91722	D	-0.0510086	0.44293	T	-0.0107229	0.69637	D	0.692193269729614	0.40350	D	0.982402	0.94055	D	0.2287447	0.45599	0.18297517	0.41258	0.2287447	0.45599	0.18297517	0.41257	-5.442	0.41321	T	.	.	0.140	0.31507	B	.;.;.	.;.;.	3.060562	0.41100	21.3	0.99739616341014659	0.83409	0.63511	0.32112	D	AEFDBI	0.150809	0.27517	N	0.0550210576241339	0.44375	2.712628	0.0671363522125405	0.42909	2.603696	5.12439339088621E-4	0.07201	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.14	3.3	0.36912	1.304000	0.33087	0.158000	0.15372	-0.888000	0.02403	1.000000	0.71638	0.336000	0.24398	0.981000	0.58702	0.2218:0.4584:0.3197:0.0	9.318	0.37105	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	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1868.33	44	chr12	109246356	.	G	A	1868.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.35;DP=825;ExcessHet=0;FS=0.557;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.86;ReadPosRankSum=0.298;SOR=0.745	GT:AD:DP:GQ:PL	0/1:91,81:172:99:1882,0,2038	18	0	1	0
chr12	110436187	110436187	A	C	exonic	ARPC3	.	nonsynonymous SNV	ARPC3:NM_001278556:exon6:c.T397G:p.L133V,ARPC3:NM_001287222:exon6:c.T394G:p.L132V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.288	0.0165905275638	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.49117	D	0.028	0.54934	D	0.009	0.15093	B	0.073	0.28123	B	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	1.7	0.43825	L	.	.	.	-1.78	0.42001	N	0.678	0.68516	-0.5401	0.67159	T	0.319	0.68830	T	9	0.5373776	0.63525	D	0.016591	0.37919	T	0.288	0.60691	0.757	0.88648	0.841293644664	0.83977	0.5913887710929902	0.59068	0.125980353182	0.14199	0.744554877281	0.73642	T	0.328879	0.69924	T	0.29243	0.82355	D	0.182279	0.82127	D	0.353996932506561	0.27174	T	0.892111	0.62800	D	0.5802201	0.71620	0.26942357	0.52822	0.5802201	0.71621	0.26942357	0.52821	-4.204	0.26809	T	.	.	0.398	0.59488	A	.;.	.;.	2.874741	0.38022	20.6	0.98501386450098494	0.42228	0.90439	0.51616	D	AEBI	0.450576	0.50491	N	-0.164200607164518	0.34633	1.979144	-0.114874717863959	0.34789	2.005213	0.982646389966234	0.30432	0.722319	0.85440	0	0.724815	0.89359	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	5.83	0.722	0.17379	1.978000	0.40221	4.101000	0.41864	0.728000	0.85494	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.4453:0.0:0.5547:0.0	12.477	0.55158	229	0.91079	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1282.33	38	chr12	110436187	.	A	C	1282.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.339;DP=753;ExcessHet=0;FS=5.633;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.43;ReadPosRankSum=-1.534;SOR=0.353	GT:AD:DP:GQ:PL	0/1:69,54:123:99:1296,0,1934	18	0	1	0
chr12	111598972	111598972	-	TGT	exonic	ATXN2	.	nonframeshift insertion	ATXN2:NM_001372574:exon1:c.62_63insACA:p.Q28_P29insQ,ATXN2:NM_002973:exon1:c.62_63insACA:p.Q28_P29insQ	Spinocerebellar ataxia 2, Autosomal dominant	66	1447	1	0	8	9	0.000345423	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0	0	0	0.0004	0	0.0001	0.0003074	8	26028	rs769170503	0.0010	0.0017	0.0009	0.0010	0.0031	0.0009	0.0009	0.0026	0.0024	0.0031	0.0023	0.0021	0.0008	0.0008	0.0020	0.0008	0.0013	0.0017	0.0033	0.0036	0.0038	0.0029	0.0064	0.0031	0.0030	0.0058	0.0055	0.0064	0	0.0028	0.0039	0.0025	0.0007	0	0.0023	0.0025	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	60.29	33	chr12	111598972	.	C	CTGT	60.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.07;DP=800;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.36;MQRankSum=0;QD=4.02;ReadPosRankSum=-1.374;SOR=0.527	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:12,3:15:74:0|1:111598972_C_CTGT:74,0,494:111598972	18	0	1	0
chr12	111598993	111598993	-	TGCTGCTGCTGCTGCTGCTGT	exonic	ATXN2	.	nonframeshift insertion	ATXN2:NM_001372574:exon1:c.41_42insACAGCAGCAGCAGCAGCAGCA:p.Q28_P29insQQQQQQQ,ATXN2:NM_002973:exon1:c.41_42insACAGCAGCAGCAGCAGCAGCA:p.Q28_P29insQQQQQQQ	Spinocerebellar ataxia 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.706e-05	4.393e-05	2.818e-05	2.591e-05	0.0002	1.981e-05	1.758e-05	1.249e-05	1.015e-05	0	0	0	3.215e-05	0.0001	0.0002	1.913e-05	0.0001	4.029e-05	7.354e-05	7.91e-05	6.534e-05	8.212e-05	0.0002	4.038e-05	3.176e-05	4.857e-05	3.132e-05	0.0001	0	0	0	0.0002	9.747e-05	0	5.93e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	15440.0	33	chr12	111598993	.	C	CTGCTGCTGCTGCTGCTGCTGT	15440.0	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.703;DP=844;ExcessHet=7.7183;FS=1.872;InbreedingCoeff=-0.3571;MLEAC=1;MLEAF=0.026;MQ=59.97;MQRankSum=0;QD=21.9;ReadPosRankSum=0.258;SOR=0.562	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:14,3:17:99:.:.:340,0,552:.	18	0	1	0
chr12	116985286	116985286	G	T	exonic	FBXW8	.	nonsynonymous SNV	FBXW8:NM_012174:exon6:c.G718T:p.A240S,FBXW8:NM_153348:exon6:c.G916T:p.A306S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.213	0.0197723895493	.	.	0.0001	0	0	0	0	7.495e-05	0.0011	0.0004	0.0001035	16	154602	rs767993065	3.42e-05	3.489e-05	2.178e-05	4.675e-05	0.0002	2.631e-05	2.375e-05	0.0001	0.0001	0	2.236e-05	0	0	0	0	2.248e-05	8.279e-05	0.0002	5.256e-05	5.253e-05	5.138e-05	5.38e-05	0.0003	2.557e-05	1.83e-05	8.878e-05	5.387e-05	4.824e-05	0	0.0003	0	0	0	0	2.94e-05	0	0	0.039	0.44358	D	0.069	0.44702	T	0.998	0.73220	D	0.931	0.68407	D	0.000000	0.84330	D	0.000000	0.999987	0.54805	D	1.975	0.53506	M	3.37	0.05847	T	-1.0	0.26422	N	0.783	0.77978	-1.1106	0.03019	T	0.048	0.20513	T	10	0.60561615	0.67157	D	0.019772	0.42216	T	0.213	0.50496	0.481	0.56142	0.38242337071	0.37855	.	.	0.269942675318	0.29517	0.500554323196	0.38905	T	0.291504	0.66425	T	-0.214665	0.18726	T	-0.249935	0.49823	T	0.14147660633647	0.16402	T	0.834017	0.50309	T	0.21060881	0.43362	0.21498941	0.46070	0.21060881	0.43362	0.21498941	0.46069	-3.66	0.18729	T	.	.	0.128	0.27433	B	.;.	.;.	4.470195	0.69653	25.4	0.99713689464747035	0.81493	0.97647	0.76137	D	AEFDBI	0.648034	0.62300	D	0.652274200567822	0.76518	6.500984	0.683842438091861	0.81154	7.460433	0.99999999191847	0.74766	0.732398	0.92422	0	0.659464	0.62310	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.84	5.84	0.93373	6.887000	0.75425	8.660000	0.77968	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	20.158	0.98126	939	0.14249	WD40-repeat-containing domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2147.33	35	chr12	116985286	.	G	T	2147.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.589;DP=795;ExcessHet=0;FS=2.666;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.48;ReadPosRankSum=0.934;SOR=0.796	GT:AD:DP:GQ:PL	0/1:81,91:172:99:2161,0,2041	18	0	1	0
chr12	120739317	120739317	A	G	exonic	ACADS	.	nonsynonymous SNV	ACADS:NM_000017:exon10:c.A1108G:p.M370V,ACADS:NM_001302554:exon10:c.A1096G:p.M366V	Acyl-CoA dehydrogenase, short-chain, deficiency of, Autosomal recessive	0	1494	28	0	0	28	0.00928382	.	.	.	200245	Deficiency_of_butyryl-CoA_dehydrogenase|Type_2_diabetes_mellitus|not_provided	MONDO:MONDO:0008722,MedGen:C0342783,OMIM:201470,Orphanet:26792|Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.923	.	.	0.00319489	0.0022	0	0.0002	0	0.0002	0.0002	0.0070	0.0143	0.0018564	287	154602	rs566325901	0.0009	0.0009	0.0006	0.0013	0.0128	0.0009	0.0009	0.0122	0.0120	5.975e-05	0.0001	0.0001	0	9.547e-05	0.0031	0.0002	0.0008	0.0128	0.0005	0.0005	0.0003	0.0008	0.0145	0.0004	0.0004	0.0118	0.0108	0	0	0.0001	0	0	0	0	0.0001	0	0.0145	0.051	0.53172	T	0.028	0.54934	D	0.818	0.45651	P	0.291	0.40706	B	0.000000	0.84330	D	0.000000	1	0.81001	D	0.595	0.15482	N	-3.85	0.95859	D	-3.83	0.72120	D	0.948	0.95608	0.656	0.92626	D	0.764	0.91953	D	10	0.028777868	0.01008	T	.	.	.	0.923	0.98079	.	.	0.970739665433	0.97042	0.9502718581226505	0.95010	0.770922189815	0.64756	0.717661619186	0.69705	T	0.875532	0.97347	D	0.157138	0.69935	D	0.463972	0.93882	D	0.0599859771721227	0.07166	T	0.983668	0.94607	D	0.7723314	0.82188	0.6916848	0.81856	0.82393956	0.85488	0.72276574	0.83629	-7.831	0.59913	D	0.5274915690359021	0.59883	0.162	0.35705	B	.;.	.;.	4.633774	0.73696	26.0	0.99358178166899647	0.60904	0.98346	0.81852	D	AEFDBI	0.964973	0.98721	D	0.374761369312287	0.60058	4.190697	0.432990466616109	0.63633	4.60088	0.999996781295101	0.74766	0.700653	0.57754	0	0.643519	0.57511	0	0.717052	0.78885	0	0.655142	0.61905	0	.	.	4.74	4.74	0.59717	8.964000	0.92969	11.132000	0.86827	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	1.0:0.0:0.0:0.0	14.260	0.65626	503	0.75780	Acyl-CoA dehydrogenase/oxidase C-terminal|Acyl-CoA dehydrogenase, conserved site;Acyl-CoA dehydrogenase/oxidase C-terminal|Acyl-CoA dehydrogenase, 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	0.004532	0.000000	0.001359	0.002924	0.000000	0.000000	0.003049	0.026515	0.02632	1336.33	33	chr12	120739317	.	A	G	1336.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.125;DP=777;ExcessHet=0;FS=5.21;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.75;ReadPosRankSum=-0.845;SOR=1.074	GT:AD:DP:GQ:PL	0/1:76,61:137:99:1350,0,1817	18	0	1	0
chr12	122190267	122190267	G	A	exonic	LRRC43	.	nonsynonymous SNV	LRRC43:NM_001098519:exon5:c.G800A:p.R267H,LRRC43:NM_152759:exon5:c.G245A:p.R82H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.334	0.0735071993228	.	.	1.657e-05	0	0	0.0001	0	0	0	6.056e-05	1.29e-05	2	154602	rs781739519	8.893e-06	8.893e-06	9.529e-06	8.251e-06	5.797e-05	4.96e-06	3.82e-06	2.194e-05	1.43e-05	2.987e-05	4.472e-05	0	0	0	0	1.799e-06	4.967e-05	5.797e-05	1.972e-05	1.97e-05	1.285e-05	2.691e-05	0.0002	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0.0002	0	0	2.939e-05	0	0	0.004	0.65419	D	0.0	0.92824	D	1.0	0.90584	D	0.996	0.84481	D	0.000297	0.46274	D	0.149191	0.966831	0.38555	D	3.005	0.85968	M	1.5	0.31205	T	-4.33	0.76740	D	0.675	0.68255	-0.6539	0.62543	T	0.204	0.56169	T	10	0.55240273	0.64329	D	0.073507	0.71808	D	0.334	0.65620	0.623	0.75803	0.339074221408	0.33521	0.7278595298298922	0.72729	0.980102357514	0.73713	0.480125129223	0.36074	T	0.145136	0.48211	T	-0.159407	0.26850	T	-0.297626	0.44974	T	0.990808725357056	0.81037	D	0.893711	0.63166	D	0.32732648	0.55251	0.19028941	0.42423	0.32732648	0.55251	0.19028941	0.42422	-8.701	0.65752	D	.	.	0.342	0.57999	A	.;.	.;.	5.150058	0.86250	28.8	0.99957695379083533	0.99986	0.94260	0.60603	D	AEFDBI	0.673330	0.63943	D	0.747790566540717	0.82761	7.843004	0.712992957982261	0.83363	8.002639	0.985296799254257	0.30862	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.22	5.22	0.72285	5.988000	0.70255	11.520000	0.93042	0.658000	0.54486	1.000000	0.71638	1.000000	0.68203	0.697000	0.34049	0.0:0.0:1.0:0.0	18.388	0.90416	759	0.50631	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.02632	1734.33	186	chr12	122190267	.	G	A	1734.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.697;DP=979;ExcessHet=0;FS=2.353;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.33;ReadPosRankSum=-1.435;SOR=0.529	GT:AD:DP:GQ:PL	0/1:52,69:121:99:1748,0,1157	18	0	1	0
chr12	124343217	124343217	G	A	exonic	NCOR2	.	nonsynonymous SNV	NCOR2:NM_001077261:exon34:c.C4694T:p.S1565L,NCOR2:NM_001206654:exon34:c.C4694T:p.S1565L,NCOR2:NM_006312:exon35:c.C4724T:p.S1575L	.	432	1087	3	0	0	3	0.00137804	.	.	.	2197186	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.048	0.0142024057481	0.0005	0.000199681	0.0004	0.0001	0	0	0	0.0006	0.0026	0.0005	0.0004269	66	154602	rs181834930	0.0008	0.0008	0.0008	0.0008	0.0010	0.0008	0.0008	0.0009	0.0009	0.0003	4.517e-05	0.0012	0	1.907e-05	0.0005	0.0010	0.0007	0.0004	0.0004	0.0004	0.0005	0.0004	0.0007	0.0003	0.0003	0.0005	0.0005	0.0002	0	0.0002	0.0017	0	9.411e-05	0	0.0007	0	0.0002	0.313	0.13971	T	0.077	0.44106	T	0.048	0.22112	B	0.007	0.12992	B	0.105779	0.19643	N	0.487586	1	0.08975	N	.	.	.	0.8	0.48769	T	-2.25	0.50337	N	0.125	0.11769	-1.0134	0.25848	T	0.101	0.37543	T	10	0.025839955	0.00766	T	0.014202	0.34156	T	0.048	0.13305	.	.	0.193917141947	0.19028	0.20801531768688594	0.20717	0.161128748492	0.18189	0.590836822987	0.51612	T	.	.	.	-0.559113	0.00257	T	-0.600531	0.12766	T	0.0212475912132881	0.00826	T	0.879112	0.59504	D	0.03312861	0.03470	0.046183623	0.06381	0.03312861	0.03470	0.046183623	0.06380	-4.605	0.32234	T	.	.	0.066	0.02428	B	.;.;.;.;.	.;.;.;.;.	2.465414	0.31770	18.84	0.78683412585354173	0.12407	0.62938	0.31934	D	AEFBHI	0.202843	0.32940	N	-0.461033581253216	0.23367	1.254362	-0.42400510704001	0.24295	1.329605	0.995107152411084	0.33954	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.02	3.95	0.44952	3.381000	0.52188	7.115000	0.57578	0.676000	0.76740	0.999000	0.42656	0.997000	0.33255	0.006000	0.07323	0.1134:0.0:0.8866:0.0	10.656	0.44867	503	0.75780	.;.;.;.;.	.	.	.	.	.	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	0.001008	0.000000	0.001362	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	1110.33	33	chr12	124343217	.	G	A	1110.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.74;DP=725;ExcessHet=0;FS=2.855;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.07;ReadPosRankSum=-0.361;SOR=1.102	GT:AD:DP:GQ:PL	0/1:50,42:92:99:1124,0,1242	18	0	1	0
chr12	125350298	125350298	T	C	exonic	TMEM132B	.	nonsynonymous SNV	TMEM132B:NM_001366854:exon2:c.T914C:p.L305S,TMEM132B:NM_052907:exon2:c.T899C:p.L300S	.	428	1084	9	1	0	11	0.00504819	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	0.00276640615797	0.0009	0.000199681	0.0013	0.0001	0.0002	0	0.0002	0.0011	0.0011	0.0048	0.0010931	169	154602	rs200555225	0.0009	0.0009	0.0008	0.0011	0.0035	0.0009	0.0009	0.0031	0.0030	0.0002	0.0002	0.0019	0	0.0006	0.0035	0.0008	0.0011	0.0034	0.0007	0.0007	0.0009	0.0006	0.0029	0.0006	0.0006	0.0018	0.0014	0.0001	0	0.0002	0.0032	0	0.0005	0	0.0010	0.0024	0.0029	0.388	0.10909	T	0.368	0.16570	T	0.002	0.09854	B	0.005	0.11217	B	.	.	.	.	0.999982	0.18198	N	1.485	0.37223	L	2.78	0.11298	T	-0.28	0.11547	N	0.167	0.17691	-0.9915	0.32218	T	0.017	0.06998	T	9	0.008447379	0.00191	T	0.002766	0.05723	T	0.069	0.20116	.	.	0.0716867268079	0.06686	0.3930508275386427	0.39220	0.349863601305	0.36836	0.370817631483	0.20949	T	0.016145	0.13402	T	-0.560917	0.00250	T	-0.578229	0.14704	T	0.00365135908134862	0.00039	T	0.30147	0.05685	T	0.06621497	0.14226	0.069592945	0.14681	0.06621497	0.14226	0.069592945	0.14680	-4.353	0.28914	T	.	.	0.116	0.23219	B	.	.	2.342652	0.30025	18.31	0.92164836560197982	0.21527	0.61715	0.31566	D	AEFBI	0.093761	0.18967	N	-0.555572694554707	0.20309	1.069675	-0.44763021165849	0.23616	1.288808	0.00294680873904276	0.09819	0.706298	0.61202	0	0.588015	0.36545	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.34	1.31	0.20837	1.429000	0.34511	1.765000	0.28585	0.665000	0.62972	0.827000	0.30089	0.986000	0.30841	0.999000	0.91618	0.4134:0.1651:0.0:0.4214	3.853	0.08472	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	0.002014	0.000000	0.001359	0.000000	0.000000	0.000000	0.006098	0.003788	0.02632	1014.33	39	chr12	125350298	.	T	C	1014.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.378;DP=804;ExcessHet=0;FS=0.763;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.14;ReadPosRankSum=-0.463;SOR=0.589	GT:AD:DP:GQ:PL	0/1:53,47:100:99:1028,0,1410	18	0	1	0
chr12	129074683	129074683	G	A	exonic	TMEM132D	.	nonsynonymous SNV	TMEM132D:NM_133448:exon9:c.C2492T:p.S831L	.	424	1039	58	1	0	60	0.0280636	.	.	.	702224	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.025	.	0.0065	0.00239617	0.0077	0.0013	0.0063	0	0.0074	0.0104	0.0132	0.0056	0.0074967	1159	154602	rs140762080	0.0084	0.0084	0.0083	0.0084	0.0534	0.0082	0.0082	0.0485	0.0466	0.0024	0.0068	0.0300	2.519e-05	0.0068	0.0534	0.0083	0.0102	0.0062	0.0069	0.0070	0.0070	0.0069	0.0090	0.0066	0.0065	0.0084	0.0082	0.0020	0	0.0075	0.0251	0.0002	0.0082	0.0578	0.0090	0.0128	0.0062	0.636	0.05452	T	0.465	0.12421	T	0.0	0.02946	B	0.0	0.01387	B	0.086311	0.02407	N	1.932640	1	0.08975	N	-1.21	0.00826	N	2.93	0.09822	T	-0.43	0.17834	N	0.048	0.01999	-1.0013	0.29545	T	0.007	0.02360	T	9	0.005143881	0.00112	T	.	.	.	0.025	0.05312	.	.	0.043077524339	0.03247	0.15545238082319554	0.15466	0.210139789538	0.23496	0.204422041774	0.00596	T	0.004765	0.04174	T	-0.732468	0.00023	T	-0.817667	0.01500	T	0.000768673486481051	0.00007	T	0.107489	0.00805	T	0.028566381	0.02214	0.021326654	0.00188	0.028566381	0.02214	0.021326654	0.00188	-4.989	0.36720	T	.	.	0.054	0.00375	B	.;.	.;.	0.246131	0.06257	2.713	0.12776534085229038	0.00232	0.01860	0.05742	N	AEFBI	0.059169	0.11156	N	-1.48779133580879	0.01936	0.08496802	-1.48934994486925	0.02431	0.1117993	2.7351116049582E-5	0.03498	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	4.2	-2.15	0.06705	0.051000	0.14025	-0.599000	0.08280	-0.531000	0.04959	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3823:0.2003:0.2121:0.2054	0.365	0.00345	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	0.034240	0.020202	0.033967	0.046784	0.000000	0.034483	0.036585	0.018939	0.02632	3400.33	34	chr12	129074683	.	G	A	3400.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.52;DP=907;ExcessHet=0;FS=2.078;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.03;ReadPosRankSum=1.15;SOR=0.838	GT:AD:DP:GQ:PL	0/1:130,131:261:99:3414,0,3072	18	0	1	0
chr12	131719498	131719498	G	A	exonic	SFSWAP	.	nonsynonymous SNV	SFSWAP:NM_001261411:exon4:c.G565A:p.V189I,SFSWAP:NM_004592:exon4:c.G565A:p.V189I	.	435	1058	28	1	0	30	0.0139795	.	.	.	2817140	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.031	0.00437233703301	0.0045	0.00219649	0.0050	0.0009	0.0010	0	0.0068	0.0057	0.0044	0.0093	0.0047735	738	154602	rs35562367	0.0056	0.0056	0.0054	0.0058	0.0107	0.0055	0.0055	0.0101	0.0099	0.0015	0.0016	0.0015	5.038e-05	0.0074	0.0038	0.0057	0.0049	0.0107	0.0044	0.0044	0.0041	0.0047	0.0104	0.0041	0.0040	0.0081	0.0073	0.0010	0	0.0042	0.0017	0	0.0063	0	0.0063	0.0019	0.0104	0.593	0.05755	T	0.741	0.04965	T	0.012	0.16265	B	0.004	0.10090	B	0.063418	0.22027	N	0.532850	0.890863	0.35949	D	-0.585	0.02270	N	2.85	0.10578	T	-0.37	0.13226	N	0.119	0.10911	-0.9502	0.40938	T	0.008	0.02801	T	10	0.0062130988	0.00140	T	0.004372	0.10655	T	0.031	0.07369	.	.	0.123314135267	0.11883	0.07507751784154569	0.07443	0.666889320388	0.59220	0.264494180679	0.05438	T	0.094017	0.39330	T	-0.662726	0.00060	T	-0.717202	0.04932	T	0.0058287017804224	0.00064	T	0.80112	0.44691	T	0.018225698	0.00343	0.0262128	0.00698	0.018225698	0.00343	0.0262128	0.00698	-2.446	0.05573	T	.	.	0.064	0.01762	B	.;.	.;.	0.376821	0.07489	4.131	0.8096812678778319	0.13455	0.58450	0.30645	D	AEFBCI	0.045792	0.07529	N	-1.05591377937999	0.07472	0.3472182	-0.965469141550142	0.10566	0.5329898	0.99624934018087	0.34617	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.63	-3.14	0.04928	0.287000	0.18678	-0.046000	0.12607	-0.244000	0.07312	0.977000	0.34929	0.000000	0.08366	0.322000	0.25017	0.4654:0.0:0.5346:0.0	14.097	0.64559	982	0.03397	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.004028	0.000000	0.001359	0.005848	0.000000	0.008621	0.003049	0.015152	0.05263	2344.83	33	chr12	131719498	.	G	A	2344.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.705;DP=831;ExcessHet=0.119;FS=0.99;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=9.45;ReadPosRankSum=1.04;SOR=0.604	GT:AD:DP:GQ:PL	0/1:74,53:127:99:1156,0,1830	17	0	2	0
chr13	25097021	25097021	G	0	exonic	PABPC3	.	.	.	.	424	831	13	0	254	267	0.00776119	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3158	1961.21	262	chr13	25097021	.	G	*	1961.21	.	AC=12;AF=0.316;AN=38;BaseQRankSum=1.31;DP=4417;ExcessHet=25.4433;FS=7.047;InbreedingCoeff=-0.7273;MLEAC=12;MLEAF=0.316;MQ=59.32;MQRankSum=-8.053;QD=0.46;ReadPosRankSum=-0.802;SOR=1.348	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:232,36:268:99:0|1:25097005_A_G:813,0,9633:25097005	7	0	12	0
chr13	25097025	25097030	TTAAGC	0	exonic	PABPC3	.	.	.	.	431	824	13	0	254	267	0.00782661	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3158	1939.17	262	chr13	25097025	.	TTAAGC	*	1939.17	.	AC=12;AF=0.316;AN=38;BaseQRankSum=1.93;DP=4472;ExcessHet=25.4433;FS=5.818;InbreedingCoeff=-0.7273;MLEAC=12;MLEAF=0.316;MQ=59.31;MQRankSum=-8.049;QD=0.45;ReadPosRankSum=-0.761;SOR=1.324	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:232,36:268:99:0|1:25097005_A_G:813,0,9633:25097005	7	0	12	0
chr13	26682776	26682776	C	G	exonic	WASF3	.	nonsynonymous SNV	WASF3:NM_001291965:exon9:c.C1144G:p.P382A,WASF3:NM_006646:exon9:c.C1153G:p.P385A	.	433	1087	2	0	0	2	0.000919118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.0532232908522	.	0.000798722	0.0005	0	0.0003	0	0	9.048e-05	0.0011	0.0034	0.0004657	72	154602	rs201909672	0.0003	0.0003	0.0002	0.0003	0.0028	0.0002	0.0002	0.0025	0.0024	0	0.0002	7.653e-05	0	1.94e-05	0.0005	9.173e-05	0.0004	0.0028	0.0001	0.0001	0.0001	0.0002	0.0015	9.739e-05	8.254e-05	0.0007	0.0005	0	0	0.0005	0	0	0	0.0034	8.821e-05	0.0005	0.0015	0.264	0.19782	T	0.039	0.51112	D	0.025	0.19245	B	0.021	0.19346	B	0.009520	0.30328	N	0.403613	0.999999	0.58761	D	1.34	0.33385	L	0.87	0.46412	T	-2.5	0.54382	D	0.215	0.24010	-0.9746	0.36213	T	0.140	0.45922	T	10	0.00894323	0.00202	T	0.053223	0.65384	D	0.132	0.35948	.	.	0.082315109003	0.07666	0.27573348454296404	0.27486	0.328761373452	0.34991	0.413464099169	0.26936	T	0.15068	0.49027	T	-0.446226	0.01188	T	-0.418364	0.31263	T	0.048918938045099	0.05310	T	0.70353	0.31362	T	0.05151784	0.09473	0.058051627	0.10660	0.05151784	0.09472	0.058051627	0.10660	-5.305	0.39993	T	.	.	0.057	0.00593	B	.;.	.;.	1.578661	0.20203	14.64	0.86246679600398513	0.16409	0.97400	0.74509	D	AEFDBI	0.222489	0.34698	N	-0.213418467186607	0.32582	1.839072	-0.163455687470524	0.32893	1.875994	0.99999999999973	0.74766	0.732398	0.92422	0	0.573888	0.26702	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.59	5.59	0.84677	3.525000	0.53257	3.678000	0.39458	0.599000	0.40250	1.000000	0.71638	0.957000	0.29195	0.001000	0.02609	0.0:1.0:0.0:0.0	17.346	0.87198	928	0.17405	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.02632	1005.33	35	chr13	26682776	.	C	G	1005.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.56;DP=758;ExcessHet=0;FS=0.949;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.23;ReadPosRankSum=-0.225;SOR=0.914	GT:AD:DP:GQ:PL	0/1:31,35:66:99:1019,0,760	18	0	1	0
chr13	30621160	30621160	T	C	exonic	USPL1	.	nonsynonymous SNV	USPL1:NM_005800:exon2:c.T20C:p.I7T	.	435	1078	9	0	0	9	0.00415704	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00342172486774	0.0005	0.000399361	0.0009	0	0.0005	0	0.0002	0.0012	0.0011	0.0015	0.0008861	137	154602	rs151003670	0.0007	0.0007	0.0007	0.0007	0.0033	0.0007	0.0006	0.0022	0.0018	0.0001	0.0007	7.674e-05	2.557e-05	0.0001	0.0033	0.0007	0.0009	0.0017	0.0007	0.0007	0.0007	0.0006	0.0017	0.0006	0.0005	0.0008	0.0006	0.0001	0.0154	0.0009	0	0	0	0.0034	0.0009	0.0009	0.0017	0.639	0.05017	T	1.0	0.01155	T	0.065	0.23521	B	0.041	0.23986	B	0.097320	0.20033	N	0.505427	0.937766	0.26881	N	1.485	0.37223	L	3.01	0.09075	T	-1.35	0.33598	N	0.222	0.24883	-0.9629	0.38625	T	0.019	0.07939	T	10	0.0077244937	0.00175	T	0.003422	0.07694	T	0.027	0.05988	.	.	0.162503812791	0.15892	0.1761533991884399	0.17534	0.0627489378481	0.06987	0.404530018568	0.25698	T	0.001518	0.00960	T	-0.596466	0.00153	T	-0.648573	0.09054	T	0.0266047711146782	0.01488	T	0.675032	0.28342	T	0.07578468	0.17098	0.04698636	0.06669	0.07578468	0.17098	0.04698636	0.06668	-2.321	0.04672	T	.	.	0.059	0.00793	B	.	.	1.610770	0.20585	14.82	0.68135107543760021	0.08566	0.53287	0.29335	D	AEFDBI	0.069979	0.13873	N	-0.439678328221628	0.24091	1.298392	-0.310991899233798	0.27742	1.541607	0.999696352217743	0.41870	0.75658	0.98901	0	0.627608	0.54475	0	0.709663	0.75317	0	0.656636	0.63459	0	.	.	5.39	1.48	0.21900	0.400000	0.20657	1.634000	0.27755	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.3292:0.1608:0.5101	4.666	0.12049	963	0.08280	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.007576	0.02632	1259.33	33	chr13	30621160	.	T	C	1259.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.276;DP=742;ExcessHet=0;FS=3.464;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.76;ReadPosRankSum=-0.876;SOR=0.408	GT:AD:DP:GQ:PL	0/1:56,61:117:99:1273,0,1311	18	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	1334.06	229	chr13	38859428	.	G	C	1334.06	.	AC=12;AF=0.333;AN=36;BaseQRankSum=-3.406;DP=2557;ExcessHet=11.1788;FS=276.801;InbreedingCoeff=-0.4865;MLEAC=12;MLEAF=0.333;MQ=60;MQRankSum=0;QD=0.79;ReadPosRankSum=1.46;SOR=13.172	GT:AD:DP:GQ:PL	0/1:99,52:164:99:111,0,1690	6	0	12	1
chr13	42303096	42303096	G	C	exonic	AKAP11	.	nonsynonymous SNV	AKAP11:NM_016248:exon8:c.G4350C:p.E1450D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.0317518443811	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.0	0.92824	D	0.046	0.21875	B	0.04	0.23831	B	0.002236	0.36970	N	0.258788	0.999802	0.20292	N	2.35	0.67516	M	0.63	0.53088	T	-0.98	0.25986	N	0.158	0.16447	-0.9998	0.29973	T	0.101	0.37443	T	10	0.07147744	0.10542	T	0.031752	0.53753	D	0.043	0.11576	0.193	0.10437	0.387475297304	0.38358	0.24412387893795467	0.24326	0.0536418645846	0.05925	0.276347875595	0.06989	T	0.015482	0.12979	T	-0.216966	0.18409	T	-0.549433	0.17381	T	0.154120936989784	0.17427	T	0.60444	0.22695	T	0.070583634	0.15560	0.053213075	0.08918	0.070583634	0.15559	0.053213075	0.08918	-3.609	0.17987	T	.	.	0.104	0.18705	B	.	.	-0.436613	0.02079	0.193	0.89464399913280646	0.18819	0.23250	0.22015	N	AEFBCI	0.138667	0.26003	N	-1.04216664049654	0.07742	0.3606713	-1.15099279227403	0.06750	0.3259806	0.997690503067831	0.35915	0.706548	0.73137	0	0.702456	0.74545	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.98	-3.37	0.04591	-0.421000	0.07118	0.185000	0.15676	-0.113000	0.14837	0.000000	0.06391	0.001000	0.17328	0.020000	0.11549	0.4718:0.0967:0.3341:0.0974	4.234	0.10068	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	.	.	.	.	.	.	.	.	0.02632	118.33	34	chr13	42303096	.	G	C	118.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-5.225;DP=1340;ExcessHet=0;FS=310.121;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.99;ReadPosRankSum=1.15;SOR=8.222	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:95,25:120:99:.:.:132,0,2981:.	18	0	1	0
chr13	42303097	42303097	G	C	exonic	AKAP11	.	nonsynonymous SNV	AKAP11:NM_016248:exon8:c.G4351C:p.V1451L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.00348779331928	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0058	0.0001	0.0001	0.0004	0.0001	0.0001	0.0001	0.0001	0.0001	2.239e-05	0.0002	0.0001	0	0.0004	0.0002	0.0001	5.842e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.732	0.03787	T	0.652	0.06690	T	0.0	0.02946	B	0.0	0.01387	B	0.384222	0.04439	N	1.329080	1	0.08975	N	-0.695	0.01866	N	1.03	0.40469	T	0.12	0.05604	N	0.01	0.00095	-1.0487	0.14761	T	0.025	0.10553	T	10	0.03053692	0.01181	T	0.003488	0.07908	T	0.040	0.10527	0.282	0.23801	0.174091166621	0.17034	0.08873411500846382	0.08806	0.0437477432083	0.04714	0.247362196445	0.03495	T	0.00156	0.01004	T	-0.357409	0.04279	T	-0.75117	0.03440	T	0.0190869918422606	0.00616	T	0.254375	0.03921	T	0.018132178	0.00335	0.025108913	0.00546	0.018132178	0.00334	0.025108913	0.00545	-2.626	0.06703	T	.	.	0.106	0.19839	B	.	.	-0.851205	0.01010	0.042	0.27875280092314592	0.01405	0.12762	0.17464	N	AEFBCI	0.031390	0.03350	N	-1.67084211627419	0.00950	0.04116467	-1.65714055191059	0.01339	0.06045885	0.999931029354219	0.46732	0.706548	0.73137	0	0.702456	0.74545	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.98	-6.75	0.01575	0.231000	0.17651	-0.238000	0.10617	-0.111000	0.15049	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.2747:0.1624:0.2842:0.2787	0.459	0.00478	675	0.60470	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4167	5180.53	132	chr13	42303097	.	G	C	5180.53	.	AC=15;AF=0.417;AN=36;BaseQRankSum=-4.864;DP=2672;ExcessHet=20.8569;FS=361.789;InbreedingCoeff=-0.6834;MLEAC=15;MLEAF=0.417;MQ=60;MQRankSum=0;QD=2.47;ReadPosRankSum=0.708;SOR=13.056	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:79,47:126:99:.:.:668,0,1903:.	3	0	15	1
chr13	48459808	48459808	T	C	exonic	RB1	.	nonsynonymous SNV	RB1:NM_000321:exon20:c.T2081C:p.L694P	Bladder cancer, somatic;Osteosarcoma, somatic;Retinoblastoma, Autosomal dominant, Somatic mutation;Retinoblastoma, trilateral, Autosomal dominant, Somatic mutation;Small cell cancer of the lung, somatic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.976	0.602785562062	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.392e-06	5.093e-05	2.774e-06	0	1.836e-06	2.3e-07	9e-08	3.1e-07	1.1e-07	0	0	0	0	0	0	1.836e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000001	0.62929	D	0.000000	1	0.81001	D	3.345	0.91022	M	-3.77	0.95595	D	-6.07	0.89871	D	0.984	0.99337	1.097	0.99525	D	0.943	0.98136	D	10	0.9566928	0.95037	D	0.602786	0.96508	D	0.976	0.99783	0.78	0.90465	0.995699770876	0.99565	0.980477162488264	0.98038	1.68776258327	0.90085	0.897795319557	0.96192	D	0.975174	0.99754	D	0.560843	0.96253	D	0.567835	0.96194	D	0.999335587024689	0.97004	D	0.909909	0.68110	D	0.9948388	0.99958	0.97334516	0.99602	0.9948388	0.99958	0.97334516	0.99602	-13.406	0.90966	D	0.9398642061341252	0.97687	0.998	0.97486	P	.;.	.;.	5.226627	0.87722	29.3	0.99926600234762908	0.99103	0.97876	0.77794	D	AEFBI	0.964519	0.98666	D	0.915122981473785	0.92480	11.44748	0.844938188139194	0.92718	11.58983	0.999996381698106	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.659464	0.59346	0	0.714379	0.83352	0	.	.	5.48	5.48	0.80675	7.674000	0.83146	7.932000	0.75071	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.0:1.0	15.564	0.76018	726	0.54788	Retinoblastoma-associated protein, B-box|Cyclin-like|Cyclin-like;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2105	487.46	49	chr13	48459808	.	T	C	487.46	.	AC=8;AF=0.211;AN=38;BaseQRankSum=-4.073;DP=1639;ExcessHet=4.0268;FS=118.507;InbreedingCoeff=-0.2619;MLEAC=8;MLEAF=0.211;MQ=60;MQRankSum=0;QD=0.51;ReadPosRankSum=0.426;SOR=11.168	GT:AD:DP:GQ:PL	0/1:91,29:120:7:7,0,1532	11	0	8	0
chr13	69882456	69882456	G	A	exonic	KLHL1	.	nonsynonymous SNV	KLHL1:NM_001286725:exon4:c.C871T:p.L291F,KLHL1:NM_020866:exon5:c.C1054T:p.L352F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.426	0.0648284192983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.54683	D	0.021	0.63109	D	0.998	0.73220	D	0.992	0.80445	D	0.000036	0.55875	D	0.000000	0.986518	0.40444	D	2.89	0.83701	M	-0.39	0.69158	T	-2.91	0.60982	D	0.547	0.58629	0.346	0.88281	D	0.580	0.84898	D	10	0.5550405	0.64469	D	0.064828	0.69397	D	0.426	0.73372	0.457	0.52265	0.77630264569	0.77424	0.20463235290269857	0.20380	0.210258746393	0.23511	0.712280154228	0.68924	T	0.595999	0.86982	D	0.0531689	0.58749	T	-0.161403	0.58226	T	0.988282024860382	0.78636	D	0.964204	0.86724	D	0.46265322	0.64836	0.37256262	0.62462	0.46265322	0.64837	0.37256262	0.62462	-10.752	0.78280	D	.	.	0.481	0.63722	A	.;.	.;.	5.474448	0.91308	32	0.99901283922638506	0.97275	0.94895	0.62702	D	AEFI	0.697597	0.65555	D	0.812871305168358	0.86905	9.037639	0.740323524884371	0.85433	8.578981	0.985978107960792	0.30982	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.08	5.08	0.68373	3.554000	0.53466	11.664000	0.94021	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	18.834	0.92121	907	0.22727	BTB/Kelch-associated|BTB/Kelch-associated;BTB/Kelch-associated|BTB/Kelch-associated	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.3421	830.1	154	chr13	69882456	.	G	A	830.1	.	AC=13;AF=0.342;AN=38;BaseQRankSum=-2.494;DP=2397;ExcessHet=13.8672;FS=177.744;InbreedingCoeff=-0.5332;MLEAC=13;MLEAF=0.342;MQ=60;MQRankSum=0;QD=0.54;ReadPosRankSum=0.578;SOR=13.216	GT:AD:DP:GQ:PL	0/1:84,38:139:83:83,0,1370	6	0	13	0
chr13	75821206	75821206	C	T	exonic	LMO7	.	nonsynonymous SNV	LMO7:NM_001366634:exon11:c.C1256T:p.P419L,LMO7:NM_001366636:exon11:c.C1256T:p.P419L,LMO7:NM_015842:exon11:c.C1538T:p.P513L,LMO7:NM_001330583:exon12:c.C1538T:p.P513L,LMO7:NM_001366632:exon12:c.C1538T:p.P513L,LMO7:NM_001366633:exon12:c.C2111T:p.P704L,LMO7:NM_005358:exon13:c.C1391T:p.P464L,LMO7:NM_001306080:exon14:c.C2237T:p.P746L	.	429	1051	35	7	0	49	0.0227801	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	.	0.0030	0.033746	0.0177	0.0056	0.0128	0.0972	0.0170	0.0028	0.0158	0.0498	0.0157501	2435	154602	rs76082815	0.0077	0.0078	0.0065	0.0090	0.0997	0.0076	0.0076	0.0971	0.0961	0.0050	0.0099	0.0032	0.0997	0.0142	0.0070	0.0010	0.0114	0.0473	0.0089	0.0090	0.0071	0.0108	0.0938	0.0085	0.0084	0.0869	0.0842	0.0054	0	0.0081	0.0026	0.0938	0.0142	0	0.0016	0.0095	0.0485	0.275	0.15984	T	0.309	0.24621	T	0.09	0.25173	B	0.006	0.12133	B	0.215918	0.03420	N	1.447430	1	0.08975	N	.	.	.	1.55	0.44065	T	-1.13	0.31170	N	0.029	0.25989	-1.0874	0.05978	T	0.003	0.01092	T	10	0.0019238591	0.00026	T	.	.	.	0.077	0.22490	.	.	.	.	0.06451919686335496	0.06390	0.0586957381805	0.06515	0.265521615744	0.05566	T	0.035418	0.25566	T	-0.627545	0.00099	T	-0.587349	0.13895	T	0.0131551565418412	0.00232	T	0.722228	0.37500	T	.	.	.	.	.	.	.	.	-5.571	0.42526	T	.	.	0.078	0.09530	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	1.254204	0.16513	12.59	0.51833244581012305	0.04635	0.16757	0.19535	N	AEFBI	0.070274	0.13944	N	-0.732483194023068	0.15114	0.7588375	-0.719587167921893	0.16473	0.8716077	0.998523831812547	0.37129	0.706298	0.61202	0	0.709663	0.81188	0	0.696353	0.63694	0	0.655142	0.61905	0	.	.	5.37	3.5	0.39181	0.943000	0.28628	0.005000	0.13351	0.599000	0.40250	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	0.0:0.8408:0.0:0.1592	12.465	0.55092	915	0.20917	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010070	0.000000	0.002717	0.008772	0.000000	0.000000	0.018293	0.034091	0.05263	1821.83	38	chr13	75821206	.	C	T	1821.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=4.11;DP=723;ExcessHet=0.119;FS=1.703;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=15.71;ReadPosRankSum=0.67;SOR=0.939	GT:AD:DP:GQ:PL	0/1:24,28:52:99:816,0,625	17	0	2	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	.	.	.	.	.	.	.	.	0.2667	1262.59	138	chr13	102737670	.	C	G	1262.59	.	AC=8;AF=0.267;AN=30;BaseQRankSum=-5.507;DP=3002;ExcessHet=4.0268;FS=282.115;InbreedingCoeff=-0.3588;MLEAC=9;MLEAF=0.3;MQ=59.98;MQRankSum=0;QD=0.86;ReadPosRankSum=2.02;SOR=12.288	GT:AD:DP:GQ:PL	0/1:167,55:229:99:291,0,3880	7	0	8	4
chr13	110457193	110457193	C	0	exonic	COL4A2-AS2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07692	68.54	10	chr13	110457193	.	C	*	68.54	.	AC=2;AF=0.077;AN=26;DP=661;ExcessHet=0.0101;FS=6.166;InbreedingCoeff=0.1246;MLEAC=2;MLEAF=0.077;MQ=47.41;QD=4.57;SOR=1.901	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,0:0:20:0|1:110457176_TC_*:355,32,299:110457176	11	0	2	6
chr13	110457193	110457193	C	G	exonic	COL4A2-AS2	.	nonsynonymous SNV	COL4A2-AS2:NM_001267044:exon5:c.G532C:p.G178R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	.	.	.	0	0	0	0	0	0	0	0	0.0001164	18	154602	rs9588171	0.0001	0.0012	6.902e-05	0.0002	0.0003	8.574e-05	7.405e-05	0.0001	0.0001	0	5.633e-05	0	0	0	0	0.0001	8.924e-05	0.0003	7.003e-05	6.326e-05	0.0001	0	0.0002	1.857e-05	1.015e-05	1.751e-05	7.17e-06	0	0	0.0002	0	0	0	0	9.99e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.07692	68.54	10	chr13	110457193	.	C	G	68.54	.	AC=2;AF=0.077;AN=26;DP=661;ExcessHet=0.0101;FS=6.166;InbreedingCoeff=0.1246;MLEAC=3;MLEAF=0.115;MQ=47.41;QD=4.57;SOR=1.901	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,0:0:20:0|1:110457176_TC_*:355,20,90:110457176	11	0	2	6
chr14	18601137	18601137	G	T	exonic	OR11H12	.	nonsynonymous SNV	OR11H12:NM_001013354:exon1:c.G21T:p.Q7H	.	583	931	8	0	0	8	0.00427807	.	.	.	2340906	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.024	0.207227403229	.	0.000199681	0.0007	0.0008	0	0	0	0.0011	0	0	3.84e-05	1	26028	rs200891589	0.0003	0.0023	0.0003	0.0003	0.0014	0.0002	0.0002	0.0011	0.0010	0.0014	0.0005	0.0002	0.0002	3.796e-05	0.0010	0.0002	0.0004	0.0003	0.0007	0.0019	0.0007	0.0007	0.0015	0.0006	0.0006	0.0012	0.0011	0.0015	0	0.0005	0.0003	0.0002	0	0.0040	0.0004	0.0005	0.0012	0.173	0.22573	T	0.102	0.38450	T	0.688	0.41582	P	0.096	0.30313	B	.	.	.	.	.	.	.	0	0.06538	N	9.8	0.00004	T	-0.36	0.13035	N	0.121	0.11197	-1.2614	0.00003	T	0.000	0.00039	T	6	0.035033703	0.01735	T	0.207227	0.87081	D	0.024	0.04979	0.347	0.34274	0.398937966296	0.39508	0.09494894154865142	0.09426	2.33439091465	0.96697	0.436872392893	0.30150	T	0.001048	0.00572	T	-0.585323	0.00179	T	-0.69154	0.06301	T	0.0109518641914826	0.00157	T	0.256274	0.03991	T	0.108425595	0.25635	0.10012523	0.23930	0.108425595	0.25635	0.10012523	0.23929	-4.225	0.27112	T	.	.	0.112	0.21766	B	.	.	0.217048	0.05997	2.440	0.48232932276014812	0.04008	0.00947	0.03649	N	AEFI	0.040772	0.06111	N	-1.14116108133276	0.05927	0.2714952	-1.30790841229775	0.04327	0.2038571	1.11926246149775E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	.	.	.	-0.264000	0.08683	.	.	0.221000	0.18078	0.000000	0.06391	0.126000	0.22952	0.037000	0.13953	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1088.33	33	chr14	18601137	.	G	T	1088.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.637;DP=687;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=37.61;MQRankSum=-2.724;QD=15.77;ReadPosRankSum=0.299;SOR=0.579	GT:AD:DP:GQ:PL	0/1:28,41:69:99:1102,0,709	18	0	1	0
chr14	19713189	19713189	A	G	exonic	OR11H2	.	nonsynonymous SNV	OR11H2:NM_001197287:exon2:c.T728C:p.M243T	.	489	1017	14	0	2	16	0.00683594	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0014	0.0033	0.0103	0	0.0015	0.0006	0.0028	0.0011	3.84e-05	1	26028	rs1590546	0.0004	0.0011	0.0004	0.0005	0.0029	0.0004	0.0004	0.0019	0.0017	0.0023	0.0021	3.833e-05	0.0006	7.526e-05	0.0029	0.0002	0.0007	0.0014	0.0010	0.0017	0.0009	0.0011	0.0026	0.0009	0.0008	0.0022	0.0020	0.0026	0	0.0008	0	0.0006	0.0004	0	0.0003	0	0.0018	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.595	0.40691	L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012151003	0.00262	T	.	.	.	.	.	.	.	0.166414681773	0.16258	0.09044129637984567	0.08977	.	.	0.24798822403	0.03559	T	0.011333	0.10128	T	0.0643397	0.60154	T	-0.145357	0.59653	T	.	.	.	0.40306	0.10319	T	0.25926927	0.48979	0.3451211	0.60199	0.25926927	0.48979	0.3451211	0.60199	-6.908	0.53358	T	.	.	0.275	0.50880	B	.;.	.;.	1.734153	0.22072	15.47	0.4422263449447929	0.03384	0.03438	0.08576	N	AEFI	.	.	.	.	.	.	.	.	.	4.60436804700089E-6	0.01202	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0443002	0.02987	1.26	1.26	0.20534	0.639000	0.24378	6.816000	0.56659	0.519000	0.23678	0.000000	0.06391	0.835000	0.27248	0.001000	0.02609	1.0:0.0:0.0:0.0	6.762	0.22733	994	0.00715	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	0.005215	0.000000	0.006983	0.006024	0.000000	0.000000	0.004167	0.000000	0.02632	929.33	34	chr14	19713189	.	A	G	929.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.568;DP=1241;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=35.71;MQRankSum=-2.633;QD=9.11;ReadPosRankSum=0.83;SOR=0.595	GT:AD:DP:GQ:PL	0/1:60,42:102:99:943,0,1752	18	0	1	0
chr14	20386466	20386466	C	T	exonic	TEP1	.	nonsynonymous SNV	TEP1:NM_001319035:exon17:c.G2518A:p.E840K,TEP1:NM_007110:exon19:c.G2842A:p.E948K	.	408	1095	19	0	0	19	0.00860118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.171	.	0.0003	0.00319489	0.0022	0	0.0007	0	0.0012	0.0007	0.0011	0.0134	0.0019405	300	154602	rs141172994	0.0013	0.0013	0.0008	0.0017	0.0132	0.0012	0.0012	0.0126	0.0123	2.998e-05	0.0005	0.0070	0	0.0015	0.0035	0.0003	0.0016	0.0132	0.0010	0.0010	0.0007	0.0012	0.0127	0.0008	0.0008	0.0101	0.0092	4.811e-05	0	0.0006	0.0063	0	0.0019	0	0.0005	0.0014	0.0127	0.093	0.33254	T	0.0	0.92824	D	0.999	0.77913	D	0.984	0.76113	D	0.000000	0.84330	D	0.000000	0.991325	0.41361	D	2.475	0.71894	M	2.21	0.18414	T	-3.03	0.63901	D	0.719	0.74280	-1.0630	0.11021	T	0.085	0.33269	T	10	0.008116037	0.00184	T	.	.	.	0.171	0.43483	.	.	0.485920709088	0.48224	0.6255316548847664	0.62486	0.465801574618	0.46004	0.688492536545	0.65489	T	0.584887	0.86463	D	-0.319584	0.06932	T	-0.220806	0.52660	T	0.0819909150361162	0.10241	T	0.921708	0.71584	D	0.4524822	0.64198	0.35530064	0.61060	0.4524822	0.64198	0.35530064	0.61060	-12.009	0.84896	D	.	.	0.209	0.47426	B	.;.	.;.	4.278851	0.65166	24.8	0.99909792534061903	0.97949	0.89285	0.49657	D	AEFDBI	0.338705	0.43609	N	0.664503691314729	0.77311	6.650329	0.619587811240811	0.76365	6.477304	0.999994975724848	0.74766	0.562547	0.31514	0	0.653731	0.59785	0	0.616094	0.41390	0	0.635551	0.53088	0	.	.	5.21	5.21	0.72005	3.408000	0.52402	7.646000	0.63445	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.661000	0.32996	0.16:0.84:0.0:0.0	13.200	0.59187	912	0.21483	Domain of unknown function DUF4062;Domain of unknown function DUF4062	.	.	.	.	.	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	0.001512	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.015267	0.02632	359.33	36	chr14	20386466	.	C	T	359.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.717;DP=687;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.71;ReadPosRankSum=1.24;SOR=0.714	GT:AD:DP:GQ:PL	0/1:22,15:37:99:373,0,631	18	0	1	0
chr14	20447624	20447624	G	A	exonic	OSGEP	.	nonsynonymous SNV	OSGEP:NM_017807:exon9:c.C860T:p.T287I	.	428	1092	2	0	0	2	0.000914913	.	.	.	1978103	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.422	0.0362901458565	.	.	9.904e-05	0	0	0	0	3.002e-05	0	0.0006	7.76e-05	12	154602	rs200195720	5.816e-05	5.883e-05	4.085e-05	7.564e-05	0.0010	4.81e-05	4.432e-05	0.0005	0.0004	0	0	0	0	0	0.0010	2.159e-05	0.0001	0.0006	2.626e-05	2.625e-05	1.285e-05	4.028e-05	0.0004	8.14e-06	5.14e-06	7.29e-05	3.029e-05	2.406e-05	0	0	0	0	0	0	1.47e-05	0	0.0004	0.241	0.17643	T	0.433	0.13595	T	0.022	0.18677	B	0.104	0.31021	B	0.000000	0.84330	D	0.047816	1	0.81001	D	2.505	0.72935	M	0.9	0.45248	T	-4.49	0.78046	D	0.86	0.85660	-0.9507	0.40851	T	0.142	0.46331	T	10	0.689082	0.71743	D	0.03629	0.56894	D	0.422	0.73078	0.756	0.88567	0.503744809241	0.50012	0.7912002704190495	0.79072	0.341241828603	0.36058	0.627879619598	0.56845	T	0.341612	0.71049	T	-0.0211043	0.48696	T	0.0960716	0.76648	D	0.283557472157514	0.24320	T	0.905509	0.66687	D	0.51227134	0.67812	0.417141	0.65777	0.49163184	0.66601	0.36233714	0.61641	-11.389	0.81748	D	0.4120327927223433	0.50220	0.503	0.64709	A	.	.	4.608910	0.73068	25.9	0.98327689232398607	0.40309	0.99437	0.96018	D	AEFBI	0.874635	0.79762	D	0.191710668829668	0.50800	3.266747	0.332081911480543	0.57434	3.909114	0.999999999999708	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.01	5.01	0.66477	7.505000	0.80519	11.808000	0.96852	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.0:1.0:0.0	17.078	0.86467	952	0.10565	Gcp-like domain|Gcp-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	0	0	1	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1220.33	34	chr14	20447624	.	G	A	1220.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.84;DP=742;ExcessHet=0;FS=1.452;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.92;ReadPosRankSum=-0.028;SOR=0.565	GT:AD:DP:GQ:PL	0/1:70,53:123:99:1234,0,1661	18	0	1	0
chr14	21522763	21522763	A	G	exonic	SALL2	.	nonsynonymous SNV	SALL2:NM_001364564:exon2:c.T2959C:p.S987P,SALL2:NM_005407:exon2:c.T2965C:p.S989P	.	418	1096	8	0	0	8	0.00363636	.	.	.	2112907	not_provided|SALL2-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.031	0.026130439479	0.0007	0.000798722	0.0014	0.0002	0.0007	0.0001	0	0.0012	0.0025	0.0065	0.0013454	208	154602	rs142138768	0.0013	0.0013	0.0011	0.0015	0.0062	0.0013	0.0012	0.0057	0.0055	0.0002	0.0007	0.0031	0	9.669e-05	0.0038	0.0011	0.0013	0.0062	0.0012	0.0012	0.0011	0.0013	0.0046	0.0010	0.0010	0.0031	0.0026	0.0003	0	0.0010	0.0046	0	0	0.0034	0.0016	0.0009	0.0046	.	.	.	0.225	0.25514	T	.	.	.	.	.	.	0.001814	0.37945	N	0.000000	0.505787	0.81001	D	.	.	.	.	.	.	.	.	.	0.149	0.15187	-0.8386	0.52740	T	0.009	0.03183	T	10	0.005746722	0.00128	T	0.02613	0.49060	D	.	.	.	.	0.449572021084	0.44577	0.29481011299601995	0.29394	.	.	0.49945384264	0.38752	T	.	.	.	-0.437204	0.01343	T	-0.398178	0.33596	T	0.0137751992049427	0.00259	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	0.11893	B	.	.	3.186646	0.43278	21.7	0.9981202950014304	0.89620	0.75520	0.36980	D	AEFBHCI	0.391752	0.47007	N	-0.215969385974554	0.32479	1.832067	-0.113501928229862	0.34844	2.009008	0.999999508830603	0.74766	0.645754	0.44609	0	0.670034	0.63936	0	0.696144	0.63334	0	0.59522	0.37078	0	.	.	4.88	3.73	0.41982	1.339000	0.33489	2.241000	0.31611	0.756000	0.94297	0.983000	0.35670	0.915000	0.28207	0.991000	0.66497	0.7172:0.1873:0.0955:0.0	4.938	0.13303	883	0.28872	.	.	.	.	.	.	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	0.003525	0.000000	0.004076	0.000000	0.000000	0.000000	0.006098	0.007576	0.02632	1426.33	69	chr14	21522763	.	A	G	1426.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.176;DP=803;ExcessHet=0;FS=3.288;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.79;ReadPosRankSum=-0.443;SOR=0.764	GT:AD:DP:GQ:PL	0/1:60,61:121:99:1440,0,1564	18	0	1	0
chr14	22886036	22886036	G	A	exonic	REM2	.	nonsynonymous SNV	REM2:NM_173527:exon4:c.G532A:p.G178R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.00786696637655	.	.	.	.	.	.	.	.	.	.	.	.	.	rs956500859	5.474e-06	5.472e-06	1.361e-06	9.628e-06	0.0002	2.36e-06	1.7e-06	3.85e-06	1.44e-06	0	0	0	0	0	0.0002	3.598e-06	1.656e-05	2.319e-05	6.572e-06	6.567e-06	0	1.346e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.398	0.10553	T	0.333	0.18395	T	0.968	0.56581	D	0.407	0.44712	B	0.007514	0.31355	N	0.358095	0.954632	0.37887	D	0.085	0.08345	N	-0.94	0.75325	T	-0.35	0.12847	N	0.219	0.24510	-1.0756	0.08225	T	0.035	0.15074	T	10	0.271663	0.44706	T	0.007867	0.20877	T	0.262	0.57482	0.479	0.55823	0.837653044268	0.83610	0.7242144609467647	0.72365	1.20038656011	0.80526	0.395933568478	0.24503	T	0.077799	0.35740	T	-0.089429	0.38169	T	-0.269381	0.47882	T	0.74610447883606	0.43069	D	0.255274	0.03954	T	0.23882689	0.46766	0.10486341	0.25194	0.23882689	0.46766	0.10486341	0.25194	-10.605	0.77448	D	.	.	0.366	0.57573	A	.	.	3.796999	0.54692	23.5	0.99840435486398194	0.92057	0.72090	0.35299	D	AEFBCI	0.191426	0.31862	N	-0.236269319614062	0.31655	1.777185	0.0086083369146923	0.40113	2.388845	0.999984173257749	0.51787	0.652421	0.48094	0	0.541556	0.11502	0	0.64067	0.45733	0	0.567892	0.33627	0	.	.	5.48	4.57	0.55860	1.412000	0.34322	5.733000	0.49532	0.676000	0.76740	0.972000	0.34453	1.000000	0.68203	0.948000	0.49324	0.1547:0.0:0.8453:0.0	10.529	0.44153	809	0.43032	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	1378.33	39	chr14	22886036	.	G	A	1378.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.679;DP=724;ExcessHet=0;FS=0.858;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.15;ReadPosRankSum=-1.456;SOR=0.849	GT:AD:DP:GQ:PL	0/1:40,51:91:99:1392,0,1006	18	0	1	0
chr14	23143164	23143164	G	T	exonic	SLC7A8	.	nonsynonymous SNV	SLC7A8:NM_001267037:exon2:c.C31A:p.H11N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.249	0.0612071783793	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.018	0.59732	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-2.04	0.85703	D	-1.21	0.30762	N	0.557	0.58202	-0.5067	0.68406	T	0.424	0.76850	T	8	0.30361968	0.47892	T	0.061207	0.68255	D	0.249	0.55752	0.26	0.20315	0.77086461317	0.76876	.	.	.	.	.	.	.	.	.	.	0.195092	0.73434	D	0.0424595	0.73088	D	0.261628549795234	0.23386	T	0.383462	0.09368	T	.	.	.	.	.	.	.	.	-4.526	0.31227	T	.	.	0.074	0.04975	B	.	.	1.105303	0.14901	11.42	0.9727068673379361	0.33135	0.79891	0.39680	D	AEFGBI	0.079748	0.16113	N	-0.150168534927963	0.35227	2.020759	-0.00403354956185389	0.39534	2.345408	0.99999755809117	0.74766	0.67177	0.52595	0	0.59043	0.45803	0	0.702456	0.68683	0	0.616125	0.45549	0	.	.	5.75	3.94	0.44807	0.809000	0.26827	4.617000	0.44060	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.1475:0.0:0.712:0.1405	6.897	0.23443	882	0.29131	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02778	97.8	34	chr14	23143164	.	G	T	97.8	.	AC=1;AF=0.028;AN=36;BaseQRankSum=2.07;DP=1015;ExcessHet=0;FS=29.335;InbreedingCoeff=-0.0459;MLEAC=1;MLEAF=0.028;MQ=60;MQRankSum=0;QD=0.83;ReadPosRankSum=0.65;SOR=4.915	GT:AD:DP:GQ:PL	0/1:106,12:118:99:111,0,2911	17	0	1	1
chr14	24163425	24163425	G	T	exonic	IRF9	.	nonsynonymous SNV	IRF9:NM_001385400:exon4:c.G412T:p.V138L,IRF9:NM_001385401:exon4:c.G412T:p.V138L,IRF9:NM_001385402:exon4:c.G412T:p.V138L,IRF9:NM_006084:exon4:c.G412T:p.V138L	.	424	1094	4	0	0	4	0.00182482	.	.	.	1392388	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.207	0.148796699292	.	0.000199681	8.243e-05	0	0	0	0	0.0001	0	6.061e-05	7.12e-05	11	154602	rs571189247	5.131e-05	5.13e-05	4.356e-05	5.913e-05	0.0012	4.192e-05	3.823e-05	0.0006	0.0004	0	2.236e-05	0	0	0	0.0012	4.497e-05	9.934e-05	0.0001	5.908e-05	5.905e-05	6.424e-05	5.37e-05	0.0002	3.075e-05	2.208e-05	4.764e-05	3.339e-05	0	0	0	0	0	0	0	0.0001	0.0005	0.0002	0.157	0.23997	T	0.564	0.29442	T	0.003	0.11197	B	0.001	0.04355	B	0.822252	0.09169	U	0.911313	1	0.08975	N	2.045	0.56016	M	-4.16	0.98866	D	0.01	0.16598	N	0.054	0.11912	0.388	0.88922	D	0.870	0.95691	D	10	0.045036793	0.03529	T	0.148797	0.83068	D	0.207	0.49555	0.192	0.10304	0.403974779092	0.40011	0.1312841051718139	0.13053	0.307253748537	0.33023	0.323190152645	0.13904	T	0.071364	0.34189	T	-0.173026	0.24777	T	-0.23127	0.51648	T	0.025363734088409	0.01320	T	.	.	.	0.035595957	0.04221	0.041412383	0.04701	0.035595957	0.04220	0.041412383	0.04701	-3.29	0.13608	T	.	.	0.090	0.28145	B	.;.;.;.;.	.;.;.;.;.	1.048992	0.14299	10.88	0.92152757790308171	0.21513	0.10358	0.15887	N	AEFBCI	0.137934	0.25907	N	-0.617558002785897	0.18416	0.9559805	-0.576622112485013	0.20104	1.081608	0.999994873070562	0.74766	0.732398	0.92422	0	0.672317	0.65289	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.01	2.09	0.26154	-0.171000	0.09872	0.063000	0.14158	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.489000	0.28769	0.0875:0.1459:0.617:0.1495	4.937	0.13297	895	0.25842	Interferon regulatory factor DNA-binding domain;Interferon regulatory factor DNA-binding domain;Interferon regulatory factor DNA-binding domain;Interferon regulatory factor DNA-binding domain;Interferon regulatory factor DNA-binding domain|Interferon regulatory factor-3	.	.	.	.	.	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	0.000000	0.004076	0.002924	0.000000	0.000000	0.000000	0.000000	0.05263	2155.81	36	chr14	24163425	.	G	T	2155.81	.	AC=2;AF=0.053;AN=38;DP=718;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=30.36;SOR=0.721	GT:AD:DP:GQ:PL	1/1:0,71:71:99:2183,213,0	18	1	0	0
chr14	52268440	52268440	T	C	exonic	PTGDR	.	nonsynonymous SNV	PTGDR:NM_000953:exon1:c.T626C:p.L209P,PTGDR:NM_001281469:exon1:c.T626C:p.L209P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.799	0.172248826125	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.86e-07	6.84e-07	0	1.379e-06	2.519e-05	0	0	.	.	0	0	0	2.519e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.003	0.76473	D	1.0	0.90584	D	0.992	0.80445	D	0.001833	0.37892	N	0.000000	1	0.81001	D	3.245	0.89746	M	-0.73	0.73100	T	-4.92	0.82141	D	0.878	0.87590	0.136	0.84810	D	0.522	0.82148	D	10	0.94877994	0.94208	D	0.172249	0.84928	D	0.799	0.93425	0.747	0.87821	0.856500699454	0.85512	0.7497060641548979	0.74917	1.36629729331	0.84451	0.607490718365	0.53961	T	0.518821	0.83134	D	0.241777	0.77830	D	0.109519	0.77543	D	0.997274577617645	0.91171	D	0.680832	0.33571	T	0.95519525	0.96793	0.95229924	0.98536	0.95519525	0.96794	0.95229924	0.98537	-8.757	0.66119	D	.	.	0.459	0.63028	A	.;.	.;.	5.026603	0.83571	28.1	0.99885303575112638	0.96049	0.94122	0.60179	D	AEFDGBCI	0.833341	0.75157	D	0.596135503568792	0.72934	5.884325	0.527515897193713	0.69848	5.41928	0.999999999999912	0.74766	0.446893	0.09132	0	0.563428	0.19063	0	0.503968	0.08637	0	0.530356	0.10902	0	.	.	4.76	4.76	0.60189	3.914000	0.56114	7.576000	0.60835	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.181000	0.21328	0.0:0.0:0.0:1.0	13.806	0.62724	913	0.21160	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	.	.	.	.	.	.	.	.	0.02632	1207.33	35	chr14	52268440	.	T	C	1207.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.624;DP=742;ExcessHet=0;FS=0.71;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.98;ReadPosRankSum=-1.557;SOR=0.824	GT:AD:DP:GQ:PL	0/1:65,56:121:99:1221,0,1665	18	0	1	0
chr14	54531033	54531033	C	T	exonic	CGRRF1	.	nonsynonymous SNV	CGRRF1:NM_006568:exon4:c.C553T:p.R185W	.	432	1077	13	0	0	13	0.00599908	.	.	.	725692	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.101	.	0.0075	0.00339457	0.0074	0.0019	0.0079	0	0.0033	0.0105	0.0070	0.0040	0.0071927	1112	154602	rs34839928	0.0089	0.0090	0.0090	0.0089	0.0125	0.0088	0.0087	0.0102	0.0099	0.0026	0.0102	0.0010	0.0001	0.0044	0.0125	0.0101	0.0103	0.0030	0.0075	0.0075	0.0075	0.0074	0.0189	0.0071	0.0070	0.0171	0.0164	0.0021	0	0.0189	0.0006	0	0.0028	0.0102	0.0100	0.0156	0.0027	0.014	0.53172	D	0.019	0.59159	D	0.999	0.77913	D	0.828	0.59497	P	0.000525	0.43581	D	0.252112	0.994756	0.42403	D	1.845	0.48678	L	1.62	0.28189	T	-2.27	0.50666	N	0.656	0.66615	-1.0566	0.12621	T	0.067	0.27502	T	10	0.006599784	0.00149	T	.	.	.	0.101	0.28911	.	.	0.415313616471	0.41148	0.6283870788807333	0.62771	0.451217625391	0.44872	0.34764662385	0.17576	T	0.075838	0.35275	T	-0.449287	0.01140	T	-0.40647	0.32632	T	0.0550796537655671	0.06371	T	0.868613	0.57103	D	0.106639296	0.25216	0.10118104	0.24215	0.106639296	0.25216	0.10118104	0.24215	-7.207	0.55532	T	.	.	0.152	0.33619	B	.	.	4.825046	0.78622	26.9	0.99915803401393699	0.98379	0.85415	0.44545	D	AEFBI	0.534647	0.55360	D	0.430531300260457	0.63109	4.538369	0.438042491003234	0.63954	4.639709	0.716162251239113	0.22876	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.5	4.59	0.56297	2.768000	0.47329	4.891000	0.45764	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.4859:0.5141:0.0:0.0	12.301	0.54197	793	0.45818	.	.	.	.	.	.	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	0.013118	0.015152	0.014986	0.011765	0.000000	0.017241	0.012195	0.003788	0.07895	489.79	33	chr14	54531033	.	C	T	489.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-1.717;DP=716;ExcessHet=0.3672;FS=16.915;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=3.24;ReadPosRankSum=-0.093;SOR=1.057	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:35,17:52:99:0|1:54531033_C_T:251,0,916:54531033	16	0	3	0
chr14	55000983	55000983	T	C	exonic	WDHD1	.	nonsynonymous SNV	WDHD1:NM_001008396:exon8:c.A334G:p.I112V,WDHD1:NM_007086:exon9:c.A703G:p.I235V	.	475	1032	14	1	0	16	0.00769231	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.140	0.00516774101649	0.0032	0.00119808	0.0036	0.0009	0.0010	0	0.0005	0.0059	0.0022	0.0012	0.0037451	579	154602	rs139440460	0.0049	0.0049	0.0050	0.0048	0.0060	0.0048	0.0048	0.0059	0.0058	0.0007	0.0009	4.038e-05	0	0.0007	0.0013	0.0060	0.0039	0.0013	0.0030	0.0030	0.0035	0.0025	0.0053	0.0028	0.0027	0.0048	0.0047	0.0012	0	0.0018	0	0.0002	0.0005	0.0136	0.0053	0.0019	0.0014	0.703	0.04728	T	1.0	0.01155	T	0.0	0.02946	B	0.003	0.08700	B	0.003298	0.35154	N	0.337163	0.835746	0.34987	D	-0.805	0.01590	N	5.06	0.60236	T	-0.14	0.09135	N	0.19	0.20793	-1.0220	0.23063	T	0.049	0.20750	T	10	0.0100622475	0.00225	T	0.005168	0.13156	T	0.140	0.37593	.	.	0.338592109245	0.33472	0.19875261694410665	0.19792	0.0358391572487	0.03777	0.255034387112	0.04317	T	0.001377	0.00840	T	-0.572901	0.00213	T	-0.591984	0.13495	T	0.0113591136742739	0.00169	T	0.769823	0.39947	T	0.024497904	0.01287	0.042299647	0.05007	0.024497904	0.01287	0.042299647	0.05006	-1.971	0.07964	T	.	.	0.055	0.00461	B	.;.	.;.	-0.027493	0.04097	0.963	0.82568697010288927	0.14260	0.44224	0.27271	N	AEFBI	0.068965	0.13629	N	-1.03150390713715	0.07955	0.3713534	-0.924305012228387	0.11521	0.5874422	0.16675878956412	0.17675	0.732398	0.92422	0	0.708844	0.79440	0	0.743671	0.96076	0	0.683762	0.67416	0	.	.	5.56	-6.18	0.01906	0.065000	0.14336	-1.103000	0.06322	0.605000	0.46263	0.936000	0.32490	0.003000	0.18671	0.996000	0.76049	0.0:0.7249:0.0:0.2751	17.591	0.87895	707	0.57054	Anaphase-promoting complex subunit 4, WD40 domain|WD40-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	0.001007	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.05263	1372.83	35	chr14	55000983	.	T	C	1372.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.43;DP=688;ExcessHet=0.119;FS=8.529;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.26;ReadPosRankSum=1.61;SOR=0.242	GT:AD:DP:GQ:PL	0/1:39,30:69:99:693,0,1106	17	0	2	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	.	.	.	.	.	.	.	.	0.4211	2170.86	43	chr14	58213644	.	T	C	2170.86	.	AC=16;AF=0.421;AN=38;BaseQRankSum=-2.448;DP=1186;ExcessHet=25.4433;FS=260.724;InbreedingCoeff=-0.7123;MLEAC=16;MLEAF=0.421;MQ=60;MQRankSum=0;QD=2.13;ReadPosRankSum=1.37;SOR=11.67	GT:AD:DP:GQ:PL	0/1:42,23:65:99:163,0,695	3	0	16	0
chr14	63599584	63599584	C	T	exonic	WDR89	.	nonsynonymous SNV	WDR89:NM_001258272:exon3:c.G359A:p.S120N,WDR89:NM_080666:exon3:c.G359A:p.S120N,WDR89:NM_001008726:exon4:c.G359A:p.S120N,WDR89:NM_001382423:exon4:c.G359A:p.S120N,WDR89:NM_001382424:exon4:c.G359A:p.S120N,WDR89:NM_001382425:exon4:c.G359A:p.S120N,WDR89:NM_001382426:exon4:c.G359A:p.S120N,WDR89:NM_001382427:exon4:c.G359A:p.S120N,WDR89:NM_001382428:exon5:c.G359A:p.S120N,WDR89:NM_001382429:exon5:c.G359A:p.S120N	.	436	1072	14	0	0	14	0.00648749	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	0.0594224361531	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1049802936	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0077	0.0001	0.0002	0.0006	0.0001	0.0001	0.0002	0.0002	0.0003	0	0.0001	0.0003	0	9.703e-05	0	0.0001	0	0.0006	0.007	0.59928	D	0.039	0.51112	D	1.0	0.90584	D	0.982	0.75477	D	0.000001	0.84330	D	0.091231	0.999886	0.50402	D	2.965	0.85198	M	-0.43	0.69657	T	-2.55	0.56144	D	0.808	0.89353	0.030	0.82846	D	0.516	0.81864	D	10	0.729669	0.74211	D	0.059422	0.67659	D	0.381	0.69863	0.656	0.79379	0.877729270176	0.87653	0.7186202673877694	0.71805	0.524831200014	0.50162	0.595262765884	0.52236	T	0.207992	0.56779	T	0.0332654	0.56159	T	-0.189993	0.55590	T	0.930429217723231	0.59512	D	0.827217	0.49530	T	0.48401013	0.66143	0.44344863	0.67561	0.48401013	0.66143	0.44344863	0.67561	-7.728	0.59202	D	.	.	0.629	0.73000	P	.;.;.;.	.;.;.;.	4.225425	0.63950	24.6	0.99573687300498392	0.72561	0.98290	0.81308	D	AEFGBI	0.614141	0.60157	D	0.825638100531887	0.87680	9.302957	0.800925121913269	0.89858	10.15104	0.999999957718002	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.62	5.62	0.85714	5.225000	0.65124	6.012000	0.52660	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	20.038	0.97569	854	0.34840	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07895	358.89	33	chr14	63599584	.	C	T	358.89	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.633;DP=1443;ExcessHet=0.3672;FS=10.016;InbreedingCoeff=-0.088;MLEAC=3;MLEAF=0.079;MQ=59.15;MQRankSum=-10.98;QD=0.62;ReadPosRankSum=-2.535;SOR=2.103	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:183,16:199:99:0|1:63599584_C_T:121,0,7596:63599584	16	0	3	0
chr14	63599585	63599585	T	G	exonic	WDR89	.	nonsynonymous SNV	WDR89:NM_001258272:exon3:c.A358C:p.S120R,WDR89:NM_080666:exon3:c.A358C:p.S120R,WDR89:NM_001008726:exon4:c.A358C:p.S120R,WDR89:NM_001382423:exon4:c.A358C:p.S120R,WDR89:NM_001382424:exon4:c.A358C:p.S120R,WDR89:NM_001382425:exon4:c.A358C:p.S120R,WDR89:NM_001382426:exon4:c.A358C:p.S120R,WDR89:NM_001382427:exon4:c.A358C:p.S120R,WDR89:NM_001382428:exon5:c.A358C:p.S120R,WDR89:NM_001382429:exon5:c.A358C:p.S120R	.	436	1070	16	0	0	16	0.00742115	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.636	0.079113870758	.	.	.	.	.	.	.	.	.	.	.	.	.	rs889833191	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0079	0.0002	0.0003	0.0009	0.0002	0.0001	0.0003	0.0002	0.0004	0	0.0001	0.0003	0	9.696e-05	0	0.0001	0	0.0009	0.003	0.68238	D	0.04	0.50809	D	1.0	0.90584	D	0.982	0.75477	D	0.000001	0.84330	D	0.091231	0.999942	0.51968	D	2.965	0.85198	M	-0.44	0.69777	T	-3.76	0.71276	D	0.929	0.96758	0.036	0.82979	D	0.492	0.80698	T	10	0.849964	0.84171	D	0.079114	0.73159	D	0.636	0.86078	0.731	0.86460	0.915439794578	0.91458	0.8468957044921087	0.84650	0.578397025268	0.53743	0.607123553753	0.53909	T	0.217029	0.57935	T	0.339169	0.85780	D	0.249416	0.85593	D	0.985822659318314	0.76706	D	0.857114	0.55085	D	0.7603168	0.81472	0.71975005	0.83454	0.7603168	0.81473	0.71975005	0.83455	-12.65	0.87870	D	.	.	0.973	0.91683	P	.;.;.;.	.;.;.;.	4.634787	0.73723	26.0	0.99807925437057288	0.89174	0.97372	0.74333	D	AEFGBI	0.609297	0.59855	D	0.730345460544241	0.81622	7.565515	0.701598012198421	0.82500	7.782416	0.99988785508351	0.44867	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.62	5.62	0.85714	4.180000	0.58093	7.924000	0.74674	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.0:1.0	16.132	0.81260	854	0.34840	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1053	449.76	33	chr14	63599585	.	T	G	449.76	.	AC=4;AF=0.105;AN=38;BaseQRankSum=0.539;DP=1456;ExcessHet=0.7564;FS=10.068;InbreedingCoeff=-0.1171;MLEAC=4;MLEAF=0.105;MQ=59.14;MQRankSum=-10.98;QD=0.6;ReadPosRankSum=-2.477;SOR=2.065	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:183,17:200:99:0|1:63599584_C_T:163,0,7593:63599584	15	0	4	0
chr14	63599753	63599753	G	A	exonic	WDR89	.	stopgain	WDR89:NM_001258272:exon3:c.C190T:p.R64X,WDR89:NM_080666:exon3:c.C190T:p.R64X,WDR89:NM_001008726:exon4:c.C190T:p.R64X,WDR89:NM_001382423:exon4:c.C190T:p.R64X,WDR89:NM_001382424:exon4:c.C190T:p.R64X,WDR89:NM_001382425:exon4:c.C190T:p.R64X,WDR89:NM_001382426:exon4:c.C190T:p.R64X,WDR89:NM_001382427:exon4:c.C190T:p.R64X,WDR89:NM_001382428:exon5:c.C190T:p.R64X,WDR89:NM_001382429:exon5:c.C190T:p.R64X	.	430	1077	15	0	0	15	0.00691563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.655e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs200681506	8.895e-06	3.831e-05	1.225e-05	5.502e-06	2.319e-05	4.96e-06	3.83e-06	3.85e-06	1.44e-06	0	0	0	0	0	0	5.396e-06	8.281e-05	2.319e-05	0.0002	0.0074	0.0002	0.0003	0.0004	0.0002	0.0001	0.0002	0.0001	0.0003	0	0.0004	0	0	0.0003	0	0.0001	0.0015	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	0.000463	0.44119	D	0.194702	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.144	0.27435	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.481121	0.93742	D	0.634849	0.97827	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.;Recessive;.	High;.;High;.	7.339368	0.96413	36	0.99756467363359924	0.84694	0.94639	0.61825	D	AEFGBI	0.098617	0.19868	N	0.909272293390907	0.92206	11.29225	0.757728745137247	0.86734	8.984897	0.999972014400061	0.50053	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.683762	0.67416	0	.	.	5.63	4.69	0.58546	2.909000	0.48456	5.651000	0.49183	-0.680000	0.04236	1.000000	0.71638	0.992000	0.31684	0.036000	0.13842	0.0:0.0:0.8692:0.1308	16.526	0.84179	854	0.34840	WD40-repeat-containing domain;WD40-repeat-containing domain;WD40-repeat-containing domain;WD40-repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07895	387.89	47	chr14	63599753	.	G	A	387.89	.	AC=3;AF=0.079;AN=38;BaseQRankSum=2.09;DP=1457;ExcessHet=0.3672;FS=9.948;InbreedingCoeff=-0.088;MLEAC=3;MLEAF=0.079;MQ=58.89;MQRankSum=-10.84;QD=0.64;ReadPosRankSum=-1.223;SOR=2.016	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:188,20:208:99:0|1:63599753_G_A:274,0,7663:63599753	16	0	3	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	.	.	.	.	.	.	.	.	0.4412	2933.03	148	chr14	64158707	.	T	C	2933.03	.	AC=15;AF=0.441;AN=34;BaseQRankSum=-3.339;DP=2339;ExcessHet=20.8569;FS=186.487;InbreedingCoeff=-0.7246;MLEAC=16;MLEAF=0.471;MQ=60;MQRankSum=0;QD=1.57;ReadPosRankSum=0.532;SOR=11.003	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:101,32:133:99:0|1:64158707_T_C:186,0,3053:64158707	2	0	15	2
chr14	64158708	64158708	G	C	exonic	SYNE2	.	nonsynonymous SNV	SYNE2:NM_015180:exon86:c.G15876C:p.M5292I,SYNE2:NM_182914:exon86:c.G15876C:p.M5292I	Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.0083565949609	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.2520115	0.42548	T	0.008357	0.22130	T	0.077	0.22490	0.515	0.61459	0.404034981753	0.40020	0.26592724106991794	0.26505	0.0746054716563	0.08373	0.455664932728	0.32718	T	0.114551	0.49765	T	-0.102008	0.36092	T	-0.384304	0.35219	T	0.651877224445343	0.38542	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	.;.;.;.;.	.;.;.;.;.	2.298733	0.29410	18.11	0.97187594042519665	0.32749	0.88851	0.48981	D	AEFGBI	0.256398	0.37533	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	.	.	.	.	.	.	.	.	0.1111	1526.87	42	chr14	64158708	.	G	C	1526.87	.	AC=4;AF=0.111;AN=36;BaseQRankSum=-4.476;DP=1445;ExcessHet=2.9153;FS=183.125;InbreedingCoeff=-0.2443;MLEAC=4;MLEAF=0.111;MQ=60;MQRankSum=0;QD=1.92;ReadPosRankSum=0.927;SOR=10.419	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:101,32:133:99:0|1:64158707_T_C:186,0,3053:64158707	14	0	4	1
chr14	64186428	64186428	T	C	exonic	SYNE2	.	nonsynonymous SNV	SYNE2:NM_015180:exon97:c.T17561C:p.L5854P,SYNE2:NM_182914:exon97:c.T17561C:p.L5854P	Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Autosomal dominant	0	1504	18	0	0	18	0.00594845	.	.	.	196406	Emery-Dreifuss_muscular_dystrophy_5,_autosomal_dominant|not_provided|not_specified	MONDO:MONDO:0013072,MedGen:C2751805,OMIM:612999,Orphanet:261|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.350	.	0.0044	0.00219649	0.0057	0.0011	0.0009	0	0.0129	0.0080	0.0044	0.0031	0.0054721	846	154602	rs117070973	0.0065	0.0065	0.0067	0.0064	0.0075	0.0064	0.0064	0.0074	0.0073	0.0010	0.0018	0.0007	0	0.0098	0.0028	0.0075	0.0049	0.0027	0.0051	0.0051	0.0048	0.0053	0.0082	0.0048	0.0046	0.0076	0.0074	0.0011	0	0.0034	0.0012	0	0.0092	0	0.0082	0.0024	0.0017	0.0	0.91255	D	0.003	0.76473	D	0.991	0.64070	D	0.861	0.61279	P	0.001261	0.39669	N	0.000000	1	0.81001	D	2.965	0.85198	M	0.84	0.47477	T	-6.33	0.90895	D	0.85	0.84609	-0.5048	0.68475	T	0.233	0.59916	T	10	0.008620858	0.00195	T	.	.	.	0.350	0.67142	.	.	0.625221479056	0.62217	0.702526500083604	0.70193	0.386515749672	0.39939	0.552365660667	0.46192	T	0.604302	0.87364	D	-0.150953	0.28163	T	0.0214212	0.71722	D	0.0338813253481984	0.02618	T	0.844715	0.52235	T	0.90783966	0.92094	0.9213887	0.96495	0.8991249	0.91306	0.91115355	0.95771	-13.973	0.93552	D	.	.	0.594	0.68636	P	.;.;.	.;.;.	3.649982	0.51800	23.1	0.99915261143971068	0.98379	0.96591	0.69909	D	AEFDGBHIJ	0.707980	0.66254	D	0.62731938729805	0.74908	6.213424	0.597489091062645	0.74757	6.192032	0.999999999380523	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.52208	0.10781	0	0.655142	0.61905	0	.	.	5.73	5.73	0.89730	4.393000	0.59427	6.135000	0.53971	0.665000	0.62972	0.998000	0.41325	1.000000	0.68203	0.782000	0.36987	0.0:0.0:0.0:1.0	16.001	0.80089	574	0.70151	.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.002014	0.005051	0.002717	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1426.33	36	chr14	64186428	.	T	C	1426.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.33;DP=760;ExcessHet=0;FS=1.525;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.09;ReadPosRankSum=-1.602;SOR=0.904	GT:AD:DP:GQ:PL	0/1:58,60:118:99:1440,0,1371	18	0	1	0
chr14	64468430	64468430	C	G	exonic	AKAP5	.	nonsynonymous SNV	AKAP5:NM_004857:exon2:c.C36G:p.N12K	.	426	1078	18	0	0	18	0.00827967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.0100165655719	0.0008	0.000599042	0.0010	0.0003	0.0003	0	0	0.0010	0.0023	0.0033	0.0009961	154	154602	rs61755983	0.0009	0.0009	0.0007	0.0010	0.0047	0.0008	0.0008	0.0041	0.0040	0.0003	0.0003	3.883e-05	0	0	0.0047	0.0007	0.0009	0.0045	0.0006	0.0006	0.0006	0.0006	0.0027	0.0005	0.0005	0.0016	0.0013	0.0002	0	0.0003	0	0	0	0.0034	0.0009	0.0005	0.0027	0.029	0.45756	D	0.148	0.32675	T	0.501	0.37169	P	0.086	0.29521	B	0.004005	0.34221	N	0.252498	1	0.81001	D	1.67	0.42885	L	1.8	0.25344	T	-3.32	0.66085	D	0.14	0.13911	-1.0433	0.16324	T	0.028	0.12058	T	10	0.008371741	0.00190	T	0.010017	0.26057	T	0.041	0.10877	0.253	0.19223	0.599568711273	0.59638	0.15461105324369417	0.15382	0.254738684408	0.28049	0.371361285448	0.21027	T	0.735101	0.92617	D	-0.579912	0.00193	T	-0.606936	0.12236	T	0.0462862226696592	0.04835	T	0.562644	0.19782	T	0.16680238	0.37038	0.22020969	0.46788	0.16680238	0.37038	0.22020969	0.46787	-3.12	0.11527	T	.	.	0.308	0.54235	B	.;.	.;.	2.003840	0.25460	16.77	0.98676538682533266	0.44554	0.84406	0.43488	D	AEFGBI	0.216599	0.34182	N	-0.250678006836125	0.31077	1.738987	-0.147237804714883	0.33514	1.917915	0.999966973416111	0.48965	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.58	2.43	0.28797	0.270000	0.18372	-0.154000	0.11389	-0.176000	0.10722	0.963000	0.33788	0.109000	0.22772	0.956000	0.50813	0.0:0.6514:0.1488:0.1998	5.809	0.17720	399	0.82780	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.004076	0.011696	0.000000	0.000000	0.003049	0.022727	0.05263	1658.83	35	chr14	64468430	.	C	G	1658.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.438;DP=724;ExcessHet=0.119;FS=0.663;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.47;ReadPosRankSum=1.74;SOR=0.598	GT:AD:DP:GQ:PL	0/1:23,35:58:99:950,0,558	17	0	2	0
chr14	67805304	67805304	C	A	exonic	ZFYVE26	.	nonsynonymous SNV	ZFYVE26:NM_015346:exon8:c.G1184T:p.G395V	Spastic paraplegia 15, autosomal recessive, Autosomal recessive	0	1466	55	1	0	57	0.0190699	0	0	.	186196	ZFYVE26-related_disorder|not_provided|Hereditary_spastic_paraplegia_15|not_specified|Hereditary_spastic_paraplegia|Spastic_paraplegia	.|MedGen:C3661900|MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700,Orphanet:100996|MedGen:CN169374|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685|Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.055	0.0153934194612	0.0027	0.00319489	0.0037	0.0008	0.0018	0	0.0008	0.0039	0.0045	0.0088	0.0035769	553	154602	rs35512910	0.0035	0.0035	0.0032	0.0037	0.0170	0.0034	0.0033	0.0143	0.0133	0.0006	0.0022	0.0018	0	0.0005	0.0170	0.0033	0.0045	0.0090	0.0027	0.0027	0.0026	0.0028	0.0071	0.0025	0.0024	0.0052	0.0046	0.0007	0	0.0045	0.0012	0	0	0.0034	0.0039	0.0066	0.0071	0.222	0.22746	T	0.011	0.64786	D	0.045	0.21781	B	0.122	0.32387	B	0.009491	0.30337	N	0.362779	0.959685	0.38140	D	.	.	.	1.86	0.26588	T	-0.13	0.08971	N	0.165	0.32148	-1.0731	0.08745	T	0.038	0.16505	T	10	0.0025664866	0.00039	T	0.015393	0.36094	T	0.055	0.15663	.	.	0.227934060464	0.22382	0.16169291788472615	0.16090	0.205046829069	0.22922	0.395783305168	0.24482	T	0.007186	0.06605	T	-0.545574	0.00310	T	-0.550483	0.17280	T	0.00825396560210703	0.00099	T	0.391661	0.09743	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.096	0.15385	B	.;.	.;.	1.940681	0.24650	16.47	0.93319764922611348	0.23040	0.90446	0.51628	D	AEFGBI	0.377002	0.46094	N	-0.506721545602045	0.21862	1.163319	-0.299626435153439	0.28111	1.564814	0.928976482814212	0.26950	0.562547	0.31514	0	0.577304	0.33150	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.9	4.75	0.59954	1.480000	0.35072	4.234000	0.42669	-0.114000	0.14653	1.000000	0.71638	1.000000	0.68203	0.926000	0.46234	0.0:0.1357:0.0:0.8643	10.034	0.41291	182	0.92924	.;.	.	.	.	.	.	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	0.006042	0.000000	0.004076	0.002924	0.050000	0.000000	0.009146	0.007576	0.1053	4325.43	33	chr14	67805304	.	C	A	4325.43	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-1.475;DP=952;ExcessHet=0.7564;FS=3.215;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=10.45;ReadPosRankSum=0.662;SOR=0.777	GT:AD:DP:GQ:PL	0/1:55,43:98:99:1013,0,1490	15	0	4	0
chr14	74723299	74723299	T	C	exonic	FCF1	.	nonsynonymous SNV	FCF1:NM_001318508:exon5:c.T284C:p.M95T,FCF1:NM_015962:exon5:c.T320C:p.M107T	.	439	1070	13	0	0	13	0.00603809	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.808	.	0.0034	0.00299521	0.0032	0.0009	0.0035	0	0.0002	0.0038	0.0088	0.0042	0.0029883	462	154602	rs41309250	0.0033	0.0033	0.0031	0.0034	0.0227	0.0032	0.0031	0.0196	0.0184	0.0013	0.0037	0.0126	2.521e-05	0.0004	0.0227	0.0031	0.0043	0.0041	0.0026	0.0026	0.0026	0.0026	0.0041	0.0024	0.0023	0.0032	0.0030	0.0008	0.0022	0.0041	0.0164	0.0002	0.0002	0.0136	0.0030	0.0028	0.0041	0.001	0.78490	D	0.003	0.76473	D	0.578	0.38765	P	0.491	0.47360	P	0.000000	0.84330	D	0.034297	1	0.81001	D	4.105	0.97342	H	.	.	.	-4.38	0.77143	D	0.916	0.92433	0.000	0.82260	D	0.352	0.71565	T	9	0.014035612	0.00296	T	.	.	.	0.808	0.93777	.	.	0.554445276056	0.55104	0.8675315858643416	0.86718	0.352378940798	0.37072	0.92011320591	0.98333	D	0.341867	0.71071	T	0.170674	0.71186	D	0.472104	0.94055	D	0.0934561144212712	0.11621	T	0.824718	0.48674	T	0.69187886	0.77613	0.7310421	0.84107	0.69187886	0.77614	0.7310421	0.84108	-11.527	0.82471	D	.	.	0.684	0.87281	P	.;.;.;.	.;.;.;.	4.478352	0.69849	25.4	0.99389570068138555	0.62292	0.99038	0.90319	D	AEFBI	0.867479	0.78727	D	0.639598692048625	0.75696	6.352053	0.683779533525843	0.81146	7.45933	0.999999999956945	0.74766	0.732398	0.92422	0	0.601575	0.49859	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	6.06	6.06	0.98340	7.581000	0.81826	7.718000	0.67175	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.960000	0.51673	0.0:0.0:0.0:1.0	16.609	0.84711	633	0.64743	.;PIN domain|rRNA-processing protein Fcf1, PIN domain;PIN domain|rRNA-processing protein Fcf1, PIN domain;PIN domain|rRNA-processing protein Fcf1, PIN 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	0.019737	0.015306	0.020380	0.049708	0.000000	0.008621	0.012346	0.003817	0.05263	2893.83	34	chr14	74723299	.	T	C	2893.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.291;DP=837;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.62;ReadPosRankSum=0.959;SOR=0.721	GT:AD:DP:GQ:PL	0/1:67,59:126:99:1324,0,1573	17	0	2	0
chr14	74781778	74781778	C	G	exonic	YLPM1	.	nonsynonymous SNV	YLPM1:NM_019589:exon4:c.C1735G:p.P579A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.176	0.0198110276327	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.751e-06	0.0002	4.108e-06	1.382e-06	3.62e-06	6.4e-07	4.3e-07	8.5e-07	5.7e-07	0	0	0	0	0	0	3.62e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.209	0.19710	T	0.078	0.50514	T	.	.	.	.	.	.	.	.	.	.	0.999918	0.81001	D	.	.	.	.	.	.	-1.59	0.38345	N	0.4	0.45237	-0.6378	0.63239	T	0.351	0.71462	T	8	0.25861296	0.43289	T	0.019811	0.42265	T	0.176	0.44373	0.315	0.29096	0.110392049598	0.10638	0.3113116681727129	0.31044	0.108738436801	0.12267	0.763889551163	0.76510	T	0.017928	0.14543	T	-0.0710243	0.41164	T	-0.339798	0.40367	T	0.417973161023554	0.29615	T	0.806719	0.45571	T	0.11252477	0.26582	0.244229	0.49884	0.11252477	0.26582	0.244229	0.49883	-8.122	0.61899	D	.	.	0.158	0.34840	B	.;.	.;.	2.502066	0.32303	19.00	0.9838911524607169	0.40936	0.99479	0.96535	D	AEFGBI	0.614150	0.60158	D	0.618526765893469	0.74345	6.117236	0.650981732843165	0.78684	6.925852	0.999999999999985	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.9	5.9	0.94952	1.669000	0.37108	5.846000	0.50293	0.549000	0.26987	0.985000	0.35982	1.000000	0.68203	0.965000	0.52897	0.0:1.0:0.0:0.0	19.866	0.96800	598	0.68232	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1111	133.47	34	chr14	74781778	.	C	G	133.47	.	AC=2;AF=0.111;AN=18;BaseQRankSum=-2.956;DP=1954;ExcessHet=0.119;FS=161.502;InbreedingCoeff=-0.2258;MLEAC=3;MLEAF=0.167;MQ=60;MQRankSum=0;QD=0.43;ReadPosRankSum=0.74;SOR=9.327	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:148,33:181:72:0|1:74781778_C_G:72,0,5036:74781778	7	0	2	10
chr14	74781779	74781779	C	G	exonic	YLPM1	.	nonsynonymous SNV	YLPM1:NM_019589:exon4:c.C1736G:p.P579R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.121	0.026397561712	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.42e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.36912	T	0.011	0.72224	D	.	.	.	.	.	.	.	.	.	.	0.999775	0.81001	D	.	.	.	.	.	.	-1.73	0.48523	N	0.652	0.66272	-0.5780	0.65696	T	0.312	0.68229	T	8	0.4610075	0.59284	T	0.026398	0.49309	D	0.121	0.33580	0.39	0.41279	0.123314135267	0.11883	0.4474048113735965	0.44658	0.119333337301	0.13438	0.809758782387	0.83456	D	0.018243	0.14740	T	-0.00786362	0.50564	T	-0.249072	0.49907	T	0.577931891752913	0.35539	D	0.787421	0.42665	T	0.25242773	0.48258	0.32784796	0.58679	0.25242773	0.48258	0.32784796	0.58678	-11.157	0.80512	D	.	.	0.528	0.65841	A	.;.	.;.	2.926139	0.38864	20.8	0.98555870954543157	0.42909	0.98429	0.82685	D	AEFGBI	0.446319	0.50243	N	0.636817590709346	0.75517	6.320194	0.648738560687963	0.78515	6.892166	0.99999999807232	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.9	5.9	0.94952	3.660000	0.54234	5.848000	0.50311	0.549000	0.26987	0.994000	0.38300	1.000000	0.68203	0.954000	0.50415	0.0:0.9277:0.0:0.0723	14.092	0.64522	598	0.68232	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.04167	61.82	34	chr14	74781779	.	C	G	61.82	.	AC=1;AF=0.042;AN=24;BaseQRankSum=-3.881;DP=1906;ExcessHet=0;FS=151.743;InbreedingCoeff=-0.1412;MLEAC=1;MLEAF=0.042;MQ=60;MQRankSum=0;QD=0.34;ReadPosRankSum=0.238;SOR=6.542	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:148,33:188:72:0|1:74781778_C_G:72,0,5036:74781778	11	0	1	7
chr14	75047018	75047018	G	C	exonic	MLH3	.	nonsynonymous SNV	MLH3:NM_001040108:exon2:c.C2638G:p.L880V,MLH3:NM_014381:exon2:c.C2638G:p.L880V	Colorectal cancer, hereditary nonpolyposis, type 7;Colorectal cancer, somatic	0	1521	1	0	0	1	0.000328623	.	.	.	572911	Colorectal_cancer,_hereditary_nonpolyposis,_type_7|Endometrial_carcinoma|Colorectal_cancer|not_specified|not_provided	MONDO:MONDO:0013725,MedGen:C1858380,OMIM:614385,Orphanet:144|Human_Phenotype_Ontology:HP:0012114,MONDO:MONDO:0002447,MedGen:C0476089,OMIM:608089|MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.227	0.0743516055126	7.7e-05	.	0.0002	9.651e-05	0.0003	0	0	0.0001	0	0.0008	0.0001876	29	154602	rs201453923	0.0002	0.0002	0.0002	0.0002	0.0010	0.0002	0.0002	0.0008	0.0008	8.961e-05	0.0002	0	0	1.872e-05	0.0003	0.0001	0.0002	0.0010	0.0001	0.0001	0.0001	9.413e-05	0.0002	6.51e-05	5.322e-05	7.907e-05	5.993e-05	4.825e-05	0	0.0002	0	0	0	0	0.0001	0	0.0002	0.02	0.49613	D	0.024	0.56640	D	0.012	0.38740	B	0.03	0.39840	B	0.004819	0.33369	N	0.318768	1	0.81001	D	1.32	0.33002	L	-1.95	0.85703	D	-1.37	0.33998	N	0.085	0.11912	-0.2700	0.75811	T	0.463	0.79229	T	10	0.05520761	0.05999	T	0.074352	0.72020	D	0.227	0.52620	.	.	0.827719787499	0.82608	0.3669399409106945	0.36607	0.116146798241	0.13104	0.265467226505	0.05559	T	0.092541	0.39024	T	-0.392015	0.02611	T	-0.386319	0.34982	T	0.0459927804768085	0.04782	T	0.860814	0.55431	D	0.07914149	0.18064	0.089401215	0.20903	0.080603056	0.18478	0.08403193	0.19301	-4.123	0.25628	T	.	.	0.171	0.53656	B	.;.;.;.	.;.;.;.	1.852126	0.23531	16.05	0.98842444944605412	0.47152	0.61874	0.31612	D	AEFDBHCIJ	.	.	.	-0.135885120674496	0.35838	2.063596	-0.0703668726193166	0.36621	2.133578	0.999999748443071	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.696353	0.63694	0	0.704051	0.69138	0	.	.	5.92	3.76	0.42368	0.721000	0.25580	0.741000	0.21161	0.671000	0.69459	1.000000	0.71638	0.999000	0.35428	0.763000	0.36255	0.1193:0.0:0.2531:0.6276	6.507	0.21399	513	0.74941	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	2594.33	34	chr14	75047018	.	G	C	2594.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.773;DP=999;ExcessHet=0;FS=5.183;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.02;ReadPosRankSum=-1.569;SOR=0.431	GT:AD:DP:GQ:PL	0/1:84,101:185:99:2608,0,2182	18	0	1	0
chr14	75280102	75280102	A	G	exonic	FOS	.	nonsynonymous SNV	FOS:NM_005252:exon2:c.A367G:p.I123V	.	419	1098	5	0	0	5	0.00227169	.	.	.	702993	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.089	0.0185950098786	0.0017	0.000399361	0.0019	0.0005	0.0022	0	0.0003	0.0028	0	0.0004	0.0018823	291	154602	rs150427794	0.0022	0.0022	0.0023	0.0021	0.0026	0.0021	0.0021	0.0025	0.0025	0.0002	0.0022	0.0004	0	0.0007	0.0007	0.0026	0.0018	0.0004	0.0014	0.0015	0.0015	0.0014	0.0024	0.0013	0.0012	0.0021	0.0020	0.0004	0.0099	0.0014	0	0	0.0006	0.0034	0.0024	0.0019	0.0004	1.0	0.50132	T	0.512	0.40110	T	0.325	0.33132	B	0.06	0.26717	B	0.034496	0.24763	N	0.478450	0.974789	0.26128	N	1.305	0.32671	L	0.01	0.62459	T	0.04	0.10480	N	0.116	0.24634	-0.9877	0.33175	T	0.089	0.34381	T	10	0.006703317	0.00152	T	0.018595	0.40717	T	0.089	0.25827	.	.	0.521601224155	0.51804	0.4501286118221632	0.44930	0.847945676173	0.68408	0.335579246283	0.15775	T	0.356804	0.72360	T	-0.372242	0.03483	T	-0.310841	0.43569	T	0.0568655694322877	0.06666	T	0.680532	0.32863	T	0.096452214	0.22719	0.0751653	0.16518	0.096452214	0.22719	0.0751653	0.16518	-4.648	0.32769	T	.	.	0.066	0.10642	B	.;.;.;.;.;.	.;.;.;.;.;.	1.862423	0.23660	16.10	0.76366260339126835	0.11439	0.93739	0.59053	D	ALL	0.596552	0.59068	D	-0.0678395523550079	0.38809	2.278787	0.106953990171455	0.44903	2.763177	0.999999998386825	0.74766	0.764865	0.99124	0	0.628146	0.54582	0	0.504199	0.09095	0	0.627883	0.49187	0	.	.	5.95	5.95	0.96415	1.316000	0.33226	6.841000	0.56715	0.756000	0.94297	0.915000	0.31815	1.000000	0.68203	0.951000	0.49849	0.8557:0.1443:0.0:0.0	12.002	0.52532	83	0.96533	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.001359	0.002924	0.000000	0.000000	0.009146	0.000000	0.02632	2526.33	37	chr14	75280102	.	A	G	2526.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.108;DP=988;ExcessHet=0;FS=2.306;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.59;ReadPosRankSum=-1.223;SOR=0.863	GT:AD:DP:GQ:PL	0/1:113,105:218:99:2540,0,2888	18	0	1	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	.	.	.	.	.	.	.	.	0.2368	459.9	207	chr14	78297852	.	G	A	459.9	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-3.965;DP=2827;ExcessHet=5.3738;FS=251.731;InbreedingCoeff=-0.327;MLEAC=9;MLEAF=0.237;MQ=60;MQRankSum=0;QD=0.37;ReadPosRankSum=0.61;SOR=13.567	GT:AD:DP:GQ:PL	0/1:99,33:142:12:12,0,1576	10	0	9	0
chr14	87947880	87947880	T	G	splicing	GALC	NM_000153:exon13:c.1339-2A>C;NM_001201402:exon13:c.1261-2A>C;NM_001201401:exon12:c.1270-2A>C	.	.	Krabbe disease, Autosomal recessive	.	.	.	.	.	.	.	1.0000	0.804	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.625005	0.99412	D	0.66	0.99401	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	7.048355	0.96078	35	0.96312423662121505	0.29387	0.90279	0.51329	D	AEFBI	.	.	.	0.834703617961455	0.88221	9.49745	0.637691033602847	0.77695	6.729492	0.662390159466227	0.22285	0.088506	0.02282	0	0.096993	0.02736	0	0.060301	0.00762	0	0.057018	0.00518	0	0.774629	0.45842	6.11	3.66	0.41111	2.105000	0.41449	7.874000	0.72122	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.337000	0.25363	0.1223:0.0:0.127:0.7507	8.987	0.35161	920	0.19381	.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1562	417.72	34	chr14	87947880	.	T	G	417.72	.	AC=5;AF=0.156;AN=32;BaseQRankSum=-0.843;DP=647;ExcessHet=1.3;FS=151.533;InbreedingCoeff=-0.2114;MLEAC=6;MLEAF=0.188;MQ=60;MQRankSum=0;QD=2.53;ReadPosRankSum=2.84;SOR=8.318	GT:AD:DP:GQ:PL	0/1:23,10:33:63:63,0,466	11	0	5	3
chr14	88468248	88468248	T	G	exonic	PTPN21	.	nonsynonymous SNV	PTPN21:NM_007039:exon19:c.A3414C:p.R1138S	.	412	1088	19	3	0	25	0.0113585	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	.	0.0018	0.00419329	0.0037	0.0005	0.0008	0.0003	0	0.0023	0.0055	0.0165	0.0034346	531	154602	rs151002751	0.0032	0.0032	0.0027	0.0036	0.0145	0.0031	0.0031	0.0138	0.0136	0.0004	0.0008	0.0001	0.0004	0.0002	0.0055	0.0028	0.0027	0.0145	0.0021	0.0021	0.0018	0.0023	0.0154	0.0019	0.0018	0.0126	0.0115	0.0005	0	0.0007	0	0.0006	0.0002	0.0034	0.0029	0.0024	0.0154	0.045	0.40832	D	0.564	0.08991	T	0.32	0.32998	B	0.129	0.32841	B	0.000172	0.48594	D	0.169817	0.550628	0.31337	N	0.765	0.19305	N	2.65	0.12676	T	-1.61	0.38734	N	0.525	0.55453	-1.0206	0.23519	T	0.034	0.14813	T	10	0.009127945	0.00206	T	.	.	.	0.180	0.45073	0.549	0.66436	0.470730462751	0.46701	.	.	0.540124399563	0.51215	0.39466765523	0.24325	T	0.140534	0.47512	T	-0.339958	0.05391	T	-0.248129	0.50001	T	0.0201140731745783	0.00712	T	0.848915	0.53103	T	0.13260892	0.30873	0.087263756	0.20272	0.13260892	0.30873	0.087263756	0.20272	-3.114	0.11457	T	.	.	0.252	0.48695	B	.;.	.;.	2.381893	0.30579	18.48	0.97150366557946433	0.32581	0.83105	0.42251	D	AEFDBI	0.201898	0.32852	N	-0.246728932481516	0.31234	1.749353	-0.181199872314905	0.32228	1.831476	0.999977264098003	0.50053	0.732398	0.92422	0	0.588015	0.36545	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	6.05	2.56	0.29842	0.991000	0.29255	0.888000	0.22449	0.665000	0.62972	0.998000	0.41325	1.000000	0.68203	0.913000	0.44837	0.0:0.1952:0.1698:0.635	4.386	0.10751	652	0.62785	PTP type protein phosphatase|PTP type protein phosphatase|PTP type protein phosphatase|Tyrosine specific protein phosphatases domain|PTP type protein phosphatase|Protein-tyrosine phosphatase, catalytic;PTP type protein phosphatase|PTP type protein phosphatase|PTP type protein phosphatase|Tyrosine specific protein phosphatases domain|PTP type protein phosphatase|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	0.008560	0.005051	0.002717	0.011696	0.000000	0.008621	0.006098	0.034091	0.05263	1924.83	39	chr14	88468248	.	T	G	1924.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.95;DP=752;ExcessHet=0.119;FS=0.656;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.01;ReadPosRankSum=-0.582;SOR=0.766	GT:AD:DP:GQ:PL	0/1:32,40:72:99:1099,0,858	17	0	2	0
chr14	93184056	93184056	T	G	exonic	MOAP1	.	nonsynonymous SNV	MOAP1:NM_022151:exon3:c.A187C:p.K63Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.0027455713106	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.278	0.15613	T	0.312	0.19599	T	0.282	0.32132	B	0.122	0.32387	B	.	.	.	.	1	0.08975	N	0.745	0.18958	N	2.63	0.12884	T	-1.4	0.34596	N	0.081	0.05670	-0.9863	0.33518	T	0.022	0.09513	T	9	0.10724634	0.19911	T	0.002746	0.05665	T	0.012	0.01476	0.445	0.50302	0.305730143919	0.30178	0.29644565744612367	0.29557	0.167897587978	0.18931	0.55158752203	0.46081	T	0.065206	0.32630	T	-0.313321	0.07459	T	-0.687841	0.06514	T	0.142530852659585	0.16491	T	.	.	.	0.09233719	0.21659	0.10697251	0.25745	0.09233719	0.21658	0.10697251	0.25744	-4.575	0.31856	T	.	.	0.139	0.30476	B	.;.	.;.	1.853587	0.23545	16.06	0.73329336205281115	0.10289	0.12812	0.17494	N	AEFDGBCI	0.046144	0.07630	N	-0.715387818415751	0.15590	0.7869616	-0.757316355604914	0.15542	0.8179363	0.999991080170188	0.74766	0.766844	0.99359	0	0.672317	0.65289	0	0.851219	0.99655	0	0.638787	0.57140	0	.	.	3.34	2.18	0.26813	0.255000	0.18102	1.607000	0.27615	0.664000	0.56970	0.423000	0.26353	0.011000	0.20116	0.239000	0.22975	0.0:0.1537:0.0:0.8463	4.790	0.12614	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	.	.	.	.	.	.	.	.	0.02632	1803.33	45	chr14	93184056	.	T	G	1803.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.92;DP=835;ExcessHet=0;FS=1.642;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.68;ReadPosRankSum=0.432;SOR=0.495	GT:AD:DP:GQ:PL	0/1:54,61:115:99:1817,0,1467	18	0	1	0
chr14	93577948	93577948	G	A	exonic	UNC79	.	nonsynonymous SNV	UNC79:NM_001346218:exon18:c.G2318A:p.R773H,UNC79:NM_020818:exon18:c.G1787A:p.R596H	.	423	1095	4	0	0	4	0.00182315	.	.	.	2337757	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.018	0.00323249415738	0.0002	0.000399361	0.0003	0.0013	0.0004	0.0002	0	0.0002	0	0.0005	0.0002781	43	154602	rs181255610	0.0002	0.0002	0.0002	0.0002	0.0013	0.0001	0.0001	0.0010	0.0009	0.0013	0.0004	0	2.519e-05	0.0002	0.0009	8.004e-05	0.0005	0.0005	0.0006	0.0006	0.0007	0.0005	0.0016	0.0005	0.0004	0.0013	0.0012	0.0016	0	0.0007	0	0.0002	0	0	0.0001	0	0.0004	0.2	0.21718	T	0.265	0.24054	T	.	.	.	.	.	.	0.000041	0.53742	D	0.077647	0.997403	0.43861	D	0.345	0.11182	N	2.23	0.18083	T	-0.92	0.27669	N	0.134	0.16447	-1.0869	0.06066	T	0.031	0.13374	T	10	0.01676485	0.00355	T	0.003232	0.07117	T	0.018	0.03083	.	.	0.043077524339	0.03247	0.41964612407487223	0.41880	0.402464485075	0.41201	0.410376131535	0.26509	T	0.082557	0.46901	T	-0.560524	0.00252	T	-0.585194	0.14084	T	0.0236671310973169	0.01103	T	.	.	.	0.05117204	0.09357	0.05872925	0.10903	0.05117204	0.09357	0.05872925	0.10902	-3.976	0.23443	T	.	.	0.067	0.07985	B	.;.;.;.;.	.;.;.;.;.	3.055270	0.41009	21.3	0.9970469303454309	0.80867	0.94355	0.60902	D	AEFBI	0.636262	0.61548	D	0.00103668317343658	0.41903	2.515	0.200552394676177	0.49877	3.185883	0.993435713134823	0.33214	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.33	5.33	0.75683	4.689000	0.61410	4.616000	0.44056	-0.123000	0.13640	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.1223:0.0:0.8777:0.0	10.220	0.42371	819	0.41190	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.015152	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1086.33	36	chr14	93577948	.	G	A	1086.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.454;DP=737;ExcessHet=0;FS=1.507;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.45;ReadPosRankSum=0.512;SOR=0.509	GT:AD:DP:GQ:PL	0/1:63,52:115:99:1100,0,1571	18	0	1	0
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	.	.	.	.	.	.	.	.	0.4722	10250.8	91	chr14	94497802	.	C	T	10250.8	.	AC=17;AF=0.472;AN=36;BaseQRankSum=-1.403;DP=2518;ExcessHet=31.086;FS=244.116;InbreedingCoeff=-0.8537;MLEAC=18;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.62;ReadPosRankSum=0.296;SOR=13.49	GT:AD:DP:GQ:PL	0/1:81,54:135:99:570,0,1432	1	0	17	1
chr14	104724449	104724449	T	C	exonic	ADSS1	.	nonsynonymous SNV	ADSS1:NM_152328:exon1:c.T179C:p.I60T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.325	0.187644808822	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1208710270	2.723e-06	8.893e-06	1.724e-06	3.834e-06	0.0001	7.3e-07	2e-07	4.001e-05	2.08e-05	0	0	0	0	0	0	0	0	0.0001	6.584e-06	6.57e-06	0	1.348e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.109	0.29288	T	0.06	0.45744	T	0.003	0.11197	B	0.007	0.12992	B	.	.	.	.	0.888637	0.35903	D	1.61	0.41143	L	0.78	0.49358	T	-1.98	0.45769	N	0.578	0.59986	-0.9795	0.35117	T	0.105	0.38513	T	9	0.5737631	0.65464	D	0.187645	0.85951	D	0.325	0.64725	.	.	0.611566284271	0.60843	.	.	.	.	.	.	.	0.174979	0.52439	T	-0.048467	0.44679	T	-0.307396	0.43938	T	0.543724379329873	0.34243	D	0.939506	0.77228	D	0.24589212	0.47552	0.26152584	0.51931	0.24589212	0.47552	0.26152584	0.51931	-7.023	0.54202	T	0.11513585920312447	0.10267	0.657	0.71225	P	.	.	4.579791	0.72335	25.8	0.98463007828204507	0.41768	0.96814	0.71082	D	AEFDGBHCI	0.847675	0.76452	D	-0.0643036560213437	0.38966	2.290433	0.0743666306426272	0.43265	2.63179	0.999999999999705	0.74766	0.766844	0.99359	0	0.166054	0.03914	2	0.851219	0.99655	0	0.56751	0.32155	0	.	.	3.83	3.83	0.43287	4.602000	0.60805	7.221000	0.57847	0.529000	0.24592	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	11.907	0.52001	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	.	.	.	.	.	.	.	.	0.02632	406.34	24	chr14	104724449	.	T	C	406.34	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.961;DP=546;ExcessHet=0;FS=0;InbreedingCoeff=-0.0279;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.54;ReadPosRankSum=-1.634;SOR=0.527	GT:AD:DP:GQ:PL	0/1:12,18:30:99:420,0,286	18	0	1	0
chr14	104949951	104949951	C	T	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.G5200A:p.G1734R,AHNAK2:NM_138420:exon7:c.G5500A:p.G1834R	.	427	1089	5	1	0	7	0.00320366	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.111	0.0192898330591	.	0.000399361	0.0003	0.0004	0.0003	0.0002	0	0.0002	0	0.0010	0.0001153	3	26028	rs554644072	0.0003	0.0003	0.0002	0.0003	0.0016	0.0002	0.0002	0.0008	0.0006	0.0005	0.0004	0.0012	0.0003	0.0002	0.0016	0.0002	0.0004	0.0009	0.0003	0.0003	0.0003	0.0003	0.0011	0.0002	0.0002	0.0004	0.0003	0.0004	0	0.0002	0	0	0	0	0.0003	0	0.0011	0.115	0.28520	T	0.042	0.50226	D	1.0	0.90584	D	0.993	0.81110	D	.	.	.	.	1	0.81001	D	2.31	0.66127	M	4.13	0.02865	T	-2.15	0.48687	N	0.171	0.18239	-1.0499	0.14425	T	0.028	0.12190	T	9	0.022407293	0.00559	T	0.01929	0.41613	T	0.111	0.31313	0.34	0.33141	0.18274738541	0.17906	0.00587910249100662	0.00556	.	.	0.244473665953	0.03208	T	0.095465	0.39627	T	-0.504965	0.00536	T	-0.574829	0.15009	T	0.0437003384114103	0.04366	T	0.671933	0.28057	T	0.09114372	0.21348	0.13883583	0.33145	0.09114372	0.21347	0.13883583	0.33144	-9.817	0.72809	D	.	.	0.372	0.57957	A	.	.	1.827379	0.23222	15.93	0.99457151408777211	0.65581	0.13892	0.18109	N	AEFBI	.	.	.	-0.168509318770573	0.34450	1.966509	-0.38233923218877	0.25524	1.40415	0.0280436394189413	0.13809	0.67177	0.52595	0	0.588015	0.36545	0	0.658983	0.55881	0	0.711	0.71501	0	.	.	4.52	3.61	0.40494	0.148000	0.16042	-20.000000	0.00162	-0.242000	0.07441	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.9102:0.0:0.0898	11.862	0.51751	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	0.001073	0.000000	0.000000	0.008403	0.000000	0.000000	0.000000	0.000000	0.05263	16899.8	295	chr14	104949951	.	C	T	16899.8	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.05;DP=5624;ExcessHet=0;FS=1.46;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=58.77;MQRankSum=10.12;QD=24.49;ReadPosRankSum=-0.659;SOR=0.679	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:17,397:414:99:1|1:104949951_C_T:16927,481,0:104949951	18	1	0	0
chr14	104949953	104949953	A	T	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.T5198A:p.F1733Y,AHNAK2:NM_138420:exon7:c.T5498A:p.F1833Y	.	426	1090	5	1	0	7	0.00320073	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.139	0.0293759738401	.	0.000399361	0.0003	0.0002	0.0003	0.0002	0	0.0002	0	0.0010	7.68e-05	2	26028	rs534212995	0.0002	0.0002	0.0001	0.0002	0.0016	0.0002	0.0002	0.0008	0.0007	0.0004	0.0004	0.0012	0.0003	0	0.0016	8.382e-05	0.0003	0.0009	0.0002	0.0002	0.0002	0.0002	0.0009	0.0001	0.0001	0.0003	0.0002	0.0003	0	0.0002	0	0.0002	0	0	0.0002	0	0.0009	0.023	0.48186	D	0.01	0.65728	D	0.999	0.77913	D	0.961	0.70482	D	.	.	.	.	1	0.81001	D	2.475	0.71894	M	4.7	0.01673	T	-1.48	0.36189	N	0.294	0.33250	-1.0185	0.24204	T	0.022	0.09147	T	9	0.038820714	0.02328	T	0.029376	0.51898	D	0.139	0.37390	.	.	0.0401082797425	0.02173	0.005535377470802446	0.00523	.	.	0.294659793377	0.09607	T	0.101032	0.40740	T	-0.412928	0.01901	T	-0.438723	0.28951	T	0.06032137696325	0.07220	T	0.650435	0.26116	T	0.18961999	0.40512	0.118280776	0.28553	0.18961999	0.40512	0.118280776	0.28552	-11.621	0.82956	D	.	.	0.543	0.66476	A	.	.	2.715210	0.35499	19.91	0.96318178851053482	0.29403	0.88622	0.48636	D	AEFBI	.	.	.	0.0352532996714609	0.43466	2.638882	-0.143200958505567	0.33671	1.928493	0.995369512603659	0.34087	0.67177	0.52595	0	0.588015	0.36545	0	0.658983	0.55881	0	0.711	0.71501	0	.	.	4.52	4.52	0.54797	6.016000	0.70451	0.344000	0.17410	0.689000	0.82905	0.802000	0.29747	0.000000	0.08366	0.001000	0.02609	1.0:0.0:0.0:0.0	12.874	0.57372	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	0.001073	0.000000	0.000000	0.008403	0.000000	0.000000	0.000000	0.000000	0.05263	16899.8	295	chr14	104949953	.	A	T	16899.8	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.21;DP=5622;ExcessHet=0;FS=1.46;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=58.79;MQRankSum=10.12;QD=31.88;ReadPosRankSum=-1.046;SOR=0.679	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:17,397:414:99:1|1:104949951_C_T:16927,481,0:104949951	18	1	0	0
chr14	104953797	104953797	C	T	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.G1354A:p.D452N,AHNAK2:NM_138420:exon7:c.G1654A:p.D552N	.	411	1040	68	3	0	74	0.0343547	.	.	.	2807606	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.019	.	0.0069	0.00798722	0.0082	0.0015	0.0071	0	0.0005	0.0101	0.0111	0.0130	0.0078718	1217	154602	rs45448397	0.0073	0.0073	0.0069	0.0077	0.0406	0.0072	0.0071	0.0363	0.0347	0.0022	0.0066	0.0321	7.557e-05	0.0007	0.0406	0.0066	0.0105	0.0137	0.0067	0.0067	0.0067	0.0066	0.0110	0.0063	0.0062	0.0097	0.0092	0.0018	0	0.0110	0.0343	0.0006	0.0006	0.0306	0.0083	0.0114	0.0104	0.842	0.02796	T	0.408	0.14633	T	0.021	0.18474	B	0.032	0.22131	B	.	.	.	.	1	0.08975	N	0	0.06538	N	4.03	0.03149	T	-0.08	0.08187	N	0.1	0.08227	-0.9097	0.46891	T	0.003	0.00832	T	9	0.0041176975	0.00081	T	.	.	.	0.019	0.03383	.	.	0.0297737177859	0.01360	0.0316760095331914	0.03116	.	.	0.185123771429	0.00150	T	0.022655	0.17431	T	-0.727118	0.00025	T	-0.8062	0.01752	T	0.00461407943591834	0.00049	T	0.309269	0.05988	T	0.016435066	0.00197	0.024356974	0.00454	0.016435066	0.00197	0.024356974	0.00454	-4.588	0.32020	T	.	.	0.109	0.20934	B	.	.	-0.342790	0.02437	0.277	0.97984752298087319	0.37356	0.08243	0.14197	N	AEFDBI	0.071796	0.14307	N	-1.45363581998287	0.02188	0.09635179	-1.48412917277304	0.02474	0.1138519	0.07631154992444	0.15723	0.706548	0.73137	0	0.588015	0.36545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.96	-3.51	0.04397	-1.192000	0.03161	-2.796000	0.03352	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.105:0.2143:0.4064:0.2743	3.143	0.06076	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	0.031219	0.000000	0.031250	0.058480	0.150000	0.060345	0.021341	0.026515	0.05263	5125.83	91	chr14	104953797	.	C	T	5125.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.09;DP=1762;ExcessHet=0.119;FS=1.733;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.72;ReadPosRankSum=0.913;SOR=0.833	GT:AD:DP:GQ:PL	0/1:112,110:222:99:2760,0,2872	17	0	2	0
chr15	20534613	20534613	C	0	exonic	GOLGA6L6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	1082.41	59	chr15	20534613	.	C	*	1082.41	.	AC=9;AF=0.25;AN=36;BaseQRankSum=0.242;DP=1470;ExcessHet=2.8258;FS=2.589;InbreedingCoeff=-0.1846;MLEAC=9;MLEAF=0.25;MQ=53.63;MQRankSum=0.168;QD=1.42;ReadPosRankSum=2.06;SOR=0.863	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:89,13:102:99:0|1:20534604_TCGTATCTTCTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCC_T:212,0,3510:20534604	9	0	9	1
chr15	20534664	20534665	CT	0	exonic	GOLGA6L6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3889	434.18	45	chr15	20534664	.	CT	*	434.18	.	AC=14;AF=0.389;AN=36;BaseQRankSum=2.28;DP=1323;ExcessHet=20.8569;FS=1.158;InbreedingCoeff=-0.6889;MLEAC=14;MLEAF=0.389;MQ=51.72;MQRankSum=0.854;QD=0.68;ReadPosRankSum=-3.234;SOR=0.835	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:29,22:64:99:1|0:20534604_TCGTATCTTCTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCC_T:815,0,1434:20534604	4	0	14	1
chr15	20534666	20534686	CCCTTATCTTCTCCTCCTGCT	0	exonic	GOLGA6L6	.	.	.	.	599	689	226	4	4	238	0.145161	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4118	434.55	45	chr15	20534666	.	CCCTTATCTTCTCCTCCTGCT	*	434.55	.	AC=14;AF=0.412;AN=34;BaseQRankSum=0.882;DP=1318;ExcessHet=20.8569;FS=1.158;InbreedingCoeff=-0.7273;MLEAC=15;MLEAF=0.441;MQ=51.07;MQRankSum=1.13;QD=0.68;ReadPosRankSum=-3.191;SOR=0.824	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:29,22:64:99:1|0:20534604_TCGTATCTTCTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCC_T:815,0,1434:20534604	3	0	14	2
chr15	20534693	20534693	T	0	exonic	GOLGA6L6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3947	327.06	45	chr15	20534693	.	T	*	327.06	.	AC=15;AF=0.395;AN=38;BaseQRankSum=0.078;DP=1294;ExcessHet=25.4433;FS=1.177;InbreedingCoeff=-0.7344;MLEAC=15;MLEAF=0.395;MQ=50.05;MQRankSum=0.956;QD=0.47;ReadPosRankSum=-1.583;SOR=0.833	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:29,22:64:99:1|0:20534604_TCGTATCTTCTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCC_T:815,0,1434:20534604	4	0	15	0
chr15	20534699	20534705	CCTCCTG	0	exonic	GOLGA6L6	.	.	.	.	504	770	47	2	199	250	0.0320553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3947	276.96	45	chr15	20534699	.	CCTCCTG	*	276.96	.	AC=15;AF=0.395;AN=38;BaseQRankSum=0.808;DP=1281;ExcessHet=25.4433;FS=1.176;InbreedingCoeff=-0.7274;MLEAC=15;MLEAF=0.395;MQ=40.86;MQRankSum=-1.387;QD=0.4;ReadPosRankSum=0.802;SOR=0.807	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:29,22:64:99:1|0:20534604_TCGTATCTTCTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCC_T:815,0,1434:20534604	4	0	15	0
chr15	22080637	22080637	A	G	exonic	OR4M2	.	nonsynonymous SNV	OR4M2:NM_001004719:exon1:c.A13G:p.N5D	.	1026	484	8	4	0	16	0.0162602	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.135	.	0.0082	.	0.0119	0.0349	0.0090	0	0.0041	0.0134	0.0091	0.0025	0.0098705	1526	154602	rs111484216	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.56192	D	0.98	0.59353	D	0.915	0.65091	D	0.000114	0.50451	D	0.000000	0.87046	0.28215	N	2.895	0.83812	M	.	.	.	.	.	.	0.111	0.09772	-1.1218	0.02221	T	0.018	0.07518	T	10	0.0040432215	0.00079	T	.	.	.	.	.	.	.	.	.	0.07997864277807154	0.07932	.	.	.	.	.	0.033863	0.23088	T	-0.5922	0.00163	T	-0.604507	0.12435	T	0.055267436674093	0.06401	T	0.643236	0.25495	T	0.10142145	0.23956	0.17873825	0.40562	0.10142145	0.23956	0.17873825	0.40562	-8.976	0.67542	D	.	.	0.170	0.37274	B	.	.	4.391943	0.67793	25.1	0.99724402241935428	0.82266	0.90083	0.50987	D	AEFGBCI	0.574722	0.57739	D	0.574802962569376	0.71604	5.676308	0.399994223797025	0.61564	4.35835	0.991497242129926	0.32508	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	2.5	2.5	0.29355	3.058000	0.49632	8.721000	0.78162	0.334000	0.19664	0.992000	0.37556	1.000000	0.68203	0.469000	0.28319	1.0:0.0:0.0:0.0	8.582	0.32798	.	.	.	.	.	.	.	.	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	0.037261	0.025253	0.054348	0.067251	0.000000	0.043103	0.015244	0.007576	0.1786	1435.25	24	chr15	22080637	.	A	G	1435.25	.	AC=5;AF=0.179;AN=28;BaseQRankSum=0.507;DP=313;ExcessHet=0;FS=0;InbreedingCoeff=0.7562;MLEAC=6;MLEAF=0.214;MQ=32.99;MQRankSum=-0.457;QD=24.75;ReadPosRankSum=0.746;SOR=2.303	GT:AD:DP:GQ:PL	0/1:14,12:26:99:338,0,420	11	2	1	5
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	0.9062	36371.9	254	chr15	22081297	.	T	C	36371.9	.	AC=29;AF=0.906;AN=32;BaseQRankSum=7.18;DP=2254;ExcessHet=0.0128;FS=82.112;InbreedingCoeff=0.2;MLEAC=32;MLEAF=1;MQ=39;MQRankSum=-9.429;QD=21.37;ReadPosRankSum=-0.973;SOR=4.312	GT:AD:DP:GQ:PL	1/1:0,137:137:99:4459,412,0	0	13	3	3
chr15	23327343	23327363	TATCTTCTCCTCCTGCTCCCT	-	exonic	LOC102723623	.	nonframeshift deletion	LOC102723623:NM_001382446:exon8:c.1504_1524del:p.K521_E645delinsMMQEQEEKMGEQEEKMQEQEKMRRQEEKIREQEEKIREQKEKIREQEEKIWEQEEKIREQEEMMQEQEEKMWEQEEKMCEQEEKMQEQEEKMRRQEEKMWEQEVRLRQQEEKMQEHQEHLEAAI*	.	708	752	44	16	2	78	0.0481013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1477931233	0.0009	0.0038	0.0008	0.0010	0.0027	0.0008	0.0008	0.0023	0.0022	0.0011	0.0026	0.0004	0.0007	0.0007	0.0019	0.0006	0.0010	0.0027	0.0002	0.0036	0.0002	0.0002	0.0002	0.0001	0.0001	9.12e-05	6.511e-05	0.0002	0	0.0001	0	0	0.0006	0	0.0002	0.0010	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05882	71.93	16	chr15	23327342	.	GTATCTTCTCCTCCTGCTCCCT	G	71.93	.	AC=2;AF=0.059;AN=34;BaseQRankSum=-0.747;DP=330;ExcessHet=0;FS=0;InbreedingCoeff=0.5188;MLEAC=1;MLEAF=0.029;MQ=44.78;MQRankSum=-2.233;QD=4.23;ReadPosRankSum=0.779;SOR=0.379	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,2:2:6:1|1:23327342_GTATCTTCTCCTCCTGCTCCCT_G:90,6,0:23327342	16	1	0	2
chr15	23327345	23327345	T	0	exonic	LOC102723623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	33.26	18	chr15	23327345	.	T	*	33.26	.	AC=2;AF=0.063;AN=32;BaseQRankSum=-0.764;DP=325;ExcessHet=0;FS=0;InbreedingCoeff=0.4332;MLEAC=1;MLEAF=0.031;MQ=51.91;MQRankSum=-0.81;QD=1.96;ReadPosRankSum=0.596;SOR=0.379	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,2:2:6:1|1:23327342_GTATCTTCTCCTCCTGCTCCCT_G:90,6,0:23327342	15	1	0	3
chr15	23327363	23327363	T	0	exonic	LOC102723623	.	.	.	.	824	605	19	16	58	109	0.0404441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06667	33.66	19	chr15	23327363	.	T	*	33.66	.	AC=2;AF=0.067;AN=30;BaseQRankSum=-0.101;DP=350;ExcessHet=0;FS=0;InbreedingCoeff=0.478;MLEAC=1;MLEAF=0.033;MQ=51.91;MQRankSum=-0.81;QD=1.98;ReadPosRankSum=-0.768;SOR=0.437	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,2:2:6:1|1:23327342_GTATCTTCTCCTCCTGCTCCCT_G:90,6,0:23327342	14	1	0	4
chr15	23329317	23329317	C	T	exonic	GOLGA6L22;LOC102723623	.	nonsynonymous SNV	GOLGA6L22:NM_001271664:exon6:c.G533A:p.R178K,LOC102723623:NM_001382446:exon6:c.G533A:p.R178K	.	808	712	1	1	0	3	0.00210231	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1205668299	0.0009	0.0008	0.0009	0.0010	0.0104	0.0009	0.0008	0.0069	0.0058	0.0006	0.0013	0.0027	0	0	0.0104	0.0009	0.0020	0.0005	0.0010	0.0010	0.0011	0.0010	0.0023	0.0008	0.0007	0.0013	0.0010	0.0003	0	0.0023	0.0030	0	0	0	0.0014	0.0052	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	.	.	.	.	.	.	.	.	0.1071	774.13	38	chr15	23329317	.	C	T	774.13	.	AC=3;AF=0.107;AN=28;BaseQRankSum=-2.081;DP=254;ExcessHet=0;FS=1.846;InbreedingCoeff=0.5742;MLEAC=4;MLEAF=0.143;MQ=26.21;MQRankSum=2.04;QD=19.35;ReadPosRankSum=-0.913;SOR=0.301	GT:AD:DP:GQ:PL	1/1:0,22:22:66:594,66,0	12	1	1	5
chr15	23361338	23361338	G	A	exonic	GOLGA8H;GOLGA8S	.	nonsynonymous SNV	GOLGA8S:NM_001355465:exon11:c.G353A:p.R118H	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000515212625981	.	.	1.762e-05	0	0	0.0001	0	1.614e-05	0	0	3.84e-05	1	26028	rs751781887	6.759e-06	1.533e-05	9.968e-06	3.746e-06	2.62e-05	2.81e-06	1.81e-06	2.94e-06	1.94e-06	0	0	0	2.62e-05	0	0	8.189e-06	0	0	1.329e-05	3.288e-05	2.594e-05	0	2.452e-05	2.21e-06	8.3e-07	.	.	2.452e-05	0	0	0	0	0	0	1.48e-05	0	0	0.241	0.17643	T	0.438	0.13403	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.96	0.22270	T	-0.32	0.12283	N	0.109	0.09490	.	.	.	.	.	.	.	0.07138932	0.10516	T	5.15E-4	0.00163	T	.	.	.	.	0.401753679984	0.39785	0.07997017359187661	0.07932	0.748489768835	0.63640	.	.	.	.	.	.	-0.351589	0.04627	T	-0.74281	0.03773	T	.	.	.	0.0642936	0.00470	T	0.021101516	0.00696	0.023745455	0.00388	0.021101516	0.00695	0.023745455	0.00388	-5.656	0.43300	T	.	.	0.088	0.11845	B	.	.	0.388233	0.07598	4.259	0.69417476967360892	0.08965	0.01920	0.05866	N	AEFI	0.041701	0.06374	N	.	.	.	.	.	.	1.3263807608088E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.83	-0.369	0.11910	1.305000	0.33098	-0.370000	0.09613	-0.783000	0.03311	0.135000	0.23427	0.000000	0.08366	0.000000	0.00833	0.2497:0.3347:0.4156:0.0	2.384	0.04096	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	.	.	.	.	.	.	.	.	0.02632	2424.33	44	chr15	23361338	.	G	A	2424.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.55;DP=1014;ExcessHet=0;FS=0.621;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=54.36;MQRankSum=4.54;QD=16.06;ReadPosRankSum=0.129;SOR=0.597	GT:AD:DP:GQ:PL	0/1:57,94:151:99:2438,0,1070	18	0	1	0
chr15	23361381	23361381	G	0	exonic	GOLGA8H;GOLGA8S	.	.	.	.	434	682	98	9	299	415	0.0783784	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1842	2863.0	45	chr15	23361381	.	G	*	2863.0	.	AC=7;AF=0.184;AN=38;BaseQRankSum=1;DP=1640;ExcessHet=6.9875;FS=2.005;InbreedingCoeff=-0.3583;MLEAC=7;MLEAF=0.184;MQ=57.9;MQRankSum=0.431;QD=2.66;ReadPosRankSum=0.105;SOR=0.548	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:76,53:129:99:.:.:1979,0,2935:.	12	0	7	0
chr15	23361385	23361385	C	0	exonic	GOLGA8H;GOLGA8S	.	.	.	.	439	690	139	1	253	394	0.0927022	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1842	748.69	45	chr15	23361385	.	C	*	748.69	.	AC=7;AF=0.184;AN=38;BaseQRankSum=0.781;DP=1415;ExcessHet=5.3738;FS=2.904;InbreedingCoeff=-0.3103;MLEAC=7;MLEAF=0.184;MQ=56.95;MQRankSum=-1.859;QD=0.78;ReadPosRankSum=2.42;SOR=0.477	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:76,53:129:99:.:.:1979,0,2935:.	12	0	7	0
chr15	23364531	23364531	T	G	exonic	GOLGA8H;GOLGA8S	.	nonsynonymous SNV	GOLGA8S:NM_001355465:exon16:c.T815G:p.I272S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00119675895459	.	.	1.07e-05	0.0002	0	0	0	0	0	0	3.84e-05	1	26028	rs3826016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.335e-05	1.32e-05	2.608e-05	0	4.936e-05	2.22e-06	8.3e-07	8.18e-06	3.06e-06	4.936e-05	0	0	0	0	0	0	0	0	0	0.044	0.41096	D	0.157	0.31730	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.92	0.23082	T	-0.73	0.20576	N	0.318	0.35832	.	.	.	.	.	.	.	0.26904655	0.44427	T	0.001197	0.01558	T	.	.	.	.	0.617388661746	0.61429	0.23240106551451215	0.23155	2.18073481268	0.95573	.	.	.	.	.	.	-0.393955	0.02536	T	-0.615855	0.11515	T	.	.	.	0.531447	0.17660	T	0.05737692	0.11411	0.07234891	0.15597	0.05737692	0.11411	0.07234891	0.15597	-3.329	0.14113	T	.	.	0.190	0.40858	B	.	.	1.553725	0.19911	14.50	0.82210087164010848	0.14074	0.43968	0.27215	N	AEFCI	0.257697	0.37638	N	.	.	.	.	.	.	8.34985602435385E-4	0.07887	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	2.877000	0.48205	2.732000	0.34396	-2.092000	0.00398	0.997000	0.40164	0.270000	0.24042	0.000000	0.00833	0.0:0.0:0.0:1.0	5.994	0.18710	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	.	.	.	.	.	.	.	.	0.05263	2719.81	51	chr15	23364531	.	T	G	2719.81	.	AC=2;AF=0.053;AN=38;DP=1069;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=48.49;QD=34.87;SOR=2.833	GT:AD:DP:GQ:PL	1/1:0,78:78:99:2747,234,0	18	1	0	0
chr15	23440328	23440328	C	0	exonic	GOLGA6L2	.	.	.	.	950	317	163	50	42	305	0.2932	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2222	2540.04	96	chr15	23440328	.	C	*	2540.04	.	AC=4;AF=0.222;AN=18;BaseQRankSum=2.21;DP=1241;ExcessHet=10.3881;FS=19.119;InbreedingCoeff=-0.2418;MLEAC=7;MLEAF=0.389;MQ=56.9;MQRankSum=0;QD=8.79;ReadPosRankSum=1.22;SOR=1.549	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:18,4:22:73:0|1:23440319_CT_C:73,0,680:23440319	5	0	4	10
chr15	23440492	23440492	C	0	exonic	GOLGA6L2	.	.	.	.	628	57	798	30	9	867	0.882716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	44113.5	193	chr15	23440492	.	C	*	44113.5	.	AC=19;AF=0.5;AN=38;BaseQRankSum=1.78;DP=2930;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=19;MLEAF=0.5;MQ=58;MQRankSum=-0.314;QD=15.57;ReadPosRankSum=-0.294;SOR=0.315	GT:AD:DP:GQ:PGT:PID:PL:PS	1/0:0,79:142:99:.:.:5246,2084,2341:.	0	0	19	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	.	.	.	.	.	.	.	.	0.4091	5435.43	110	chr15	33066576	.	A	G	5435.43	.	AC=9;AF=0.409;AN=22;BaseQRankSum=-0.723;DP=1826;ExcessHet=5.3738;FS=195.705;InbreedingCoeff=-0.52;MLEAC=12;MLEAF=0.545;MQ=60;MQRankSum=0;QD=5.75;ReadPosRankSum=0.903;SOR=10.986	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:86,34:120:99:.:.:683,0,2813:.	2	0	9	8
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	.	.	.	.	.	.	.	.	0.4545	5964.23	102	chr15	33066577	.	C	G	5964.23	.	AC=10;AF=0.455;AN=22;BaseQRankSum=-1.706;DP=1809;ExcessHet=6.9875;FS=214.034;InbreedingCoeff=-0.5833;MLEAC=13;MLEAF=0.591;MQ=60;MQRankSum=0;QD=5.63;ReadPosRankSum=0.759;SOR=11.083	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:86,30:118:99:.:.:664,0,2814:.	1	0	10	8
chr15	41873610	41873610	T	C	splicing	SPTBN5	NM_016642:exon26:c.4891-2A>G	.	.	.	421	1095	6	0	0	6	0.00273224	1.0000	0.912	.	2817465	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	0.0004	0.000399361	0.0004	0	0.0023	0	0	0.0009	0	0	9.06e-05	14	154602	rs201755073	0.0002	0.0002	0.0002	0.0002	0.0037	0.0002	0.0002	0.0025	0.0021	0.0001	0.0010	7.949e-05	0	0	0.0037	0.0001	0.0003	0.0001	0.0005	0.0005	0.0004	0.0006	0.0027	0.0004	0.0003	0.0020	0.0018	0	0	0.0027	0	0	0	0.0068	0.0003	0.0014	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0870298	0.62853	D	0.301795	0.88280	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.798290	0.77943	26.8	0.99487612758217414	0.67235	0.98004	0.78799	D	AEFGBI	.	.	.	1.01545169791207	0.96200	14.41447	0.853787589948177	0.93234	11.91074	0.99999076030791	0.74766	0.099367	0.02607	0	0.059962	0.00310	0	0.074216	0.02223	0	0.117559	0.03655	0	0.852332	0.51913	5.24	5.24	0.72863	4.999000	0.63678	3.598000	0.39212	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.0:0.0:0.0:1.0	14.156	0.64950	197	0.92378	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1037.33	35	chr15	41873610	.	T	C	1037.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.738;DP=726;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.59;ReadPosRankSum=0.167;SOR=0.647	GT:AD:DP:GQ:PL	0/1:52,46:98:99:1051,0,1362	18	0	1	0
chr15	42276349	42276349	C	A	exonic	GANC	.	nonsynonymous SNV	GANC:NM_001301410:exon2:c.C31A:p.L11I,GANC:NM_198141:exon2:c.C31A:p.L11I,GANC:NM_001301409:exon3:c.C31A:p.L11I	.	676	5	11	829	1	1670	0.994044	0	0.02	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00224095177646	.	.	5.802e-05	0	0	0	0	1.506e-05	0	0.0004	4.53e-05	7	154602	rs8043515	2.224e-05	3.984e-05	1.443e-05	2.99e-05	0.0003	1.542e-05	1.328e-05	0.0002	0.0002	6.749e-05	0	0	0	0	0	4.297e-06	0	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.151	0.26192	T	0.273	0.22154	T	0.002	0.09854	B	0.002	0.06944	B	0.041621	0.23931	N	0.341271	1	0.08975	P	0	0.06538	N	2.19	0.18724	T	0.34	0.08187	N	0.117	0.12913	-1.0152	0.25272	T	0.019	0.07753	T	9	0.035594553	0.01815	T	0.002241	0.04260	T	0.027	0.05988	0.204	0.11936	0.202949470691	0.19918	0.09475437060271935	0.09407	0.0212764997777	0.02108	0.45350509882	0.32423	T	0.06464	0.41949	T	-0.440593	0.01283	T	-0.563241	0.16075	T	0.0211082919930229	0.00813	T	0.217878	0.02755	T	0.058094192	0.11645	0.043971397	0.05592	0.058094192	0.11644	0.043971397	0.05592	-4.278	0.27867	T	.	.	0.046	0.03736	B	.;.;.;.;.	.;.;.;.;.	2.766989	0.36307	20.2	0.9345738165676617	0.23243	0.31875	0.24446	N	AEFBCI	0.121528	0.23623	N	-0.825548423619618	0.12659	0.6184902	-0.668308253869979	0.17754	0.9455032	0.999624966927413	0.41093	0.660085	0.49399	0	0.685571	0.66316	0	0.731467	0.93227	0	0.651492	0.60203	0	.	.	4.37	1.0	0.18999	2.091000	0.41316	5.338000	0.48337	-0.165000	0.11486	1.000000	0.71638	1.000000	0.68203	0.957000	0.51019	0.0:0.3101:0.3394:0.3505	6.557	0.21660	480	0.77422	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	40048.3	63	chr15	42276349	.	C	A	40048.3	.	AC=1;AF=0.026;AN=38;DP=1341;ExcessHet=0;FS=0;InbreedingCoeff=nan;MLEAC=1;MLEAF=0.026;MQ=60;QD=30.69;SOR=1.121	GT:AD:DP:GQ:PL	0/1:0,43:81:99:2019,998,869	18	0	1	0
chr15	43279206	43279206	C	T	exonic	TGM7	.	nonsynonymous SNV	TGM7:NM_052955:exon11:c.G1750A:p.V584M	.	434	1079	9	0	0	9	0.00415321	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	.	0.0049	0.00179712	0.0055	0.0015	0.0017	0	0.0171	0.0072	0.0099	0.0019	0.0055821	863	154602	rs140755102	0.0078	0.0078	0.0079	0.0076	0.0088	0.0076	0.0076	0.0086	0.0086	0.0010	0.0022	0.0031	0	0.0176	0.0003	0.0088	0.0058	0.0012	0.0059	0.0059	0.0056	0.0061	0.0080	0.0055	0.0054	0.0075	0.0073	0.0013	0	0.0029	0.0040	0	0.0198	0.0102	0.0080	0.0052	0.0010	0.037	0.43085	D	0.008	0.67890	D	0.338	0.33405	B	0.015	0.17295	B	0.002555	0.36353	N	0.233360	0.978469	0.25247	N	1.525	0.38595	L	1.27	0.36146	T	-1.48	0.36189	N	0.397	0.43803	-1.0144	0.25529	T	0.051	0.21806	T	10	0.008108467	0.00184	T	.	.	.	0.084	0.24469	.	.	0.307332253619	0.30352	0.5670620872321771	0.56634	0.158752281462	0.17918	0.499527901411	0.38762	T	0.021878	0.16964	T	-0.471275	0.00834	T	-0.441768	0.28610	T	0.011701612972204	0.00179	T	0.686731	0.29555	T	0.078764066	0.17957	0.10791487	0.25986	0.078764066	0.17957	0.10791487	0.25986	-5.933	0.45716	T	.	.	0.225	0.45690	B	.	.	3.121859	0.42153	21.5	0.99384569915180476	0.62024	0.13504	0.17893	N	AEFDBI	0.046962	0.07858	N	-0.166240791405436	0.34547	1.973144	-0.129570926148562	0.34203	1.964886	0.978286560829729	0.29906	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.42	2.36	0.28258	0.486000	0.22048	1.034000	0.23503	0.530000	0.24713	0.373000	0.25949	0.542000	0.25421	0.821000	0.38685	0.0:0.5968:0.2012:0.202	4.529	0.11399	15	0.98792	.	.	.	.	.	.	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	0.005051	0.000000	0.002924	0.000000	0.000000	0.006135	0.003788	0.02632	1913.33	33	chr15	43279206	.	C	T	1913.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.816;DP=884;ExcessHet=0;FS=2.107;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.29;ReadPosRankSum=2.12;SOR=0.75	GT:AD:DP:GQ:PL	0/1:65,79:144:99:1927,0,1426	18	0	1	0
chr15	43774718	43774718	A	G	exonic	ELL3	.	nonsynonymous SNV	ELL3:NM_025165:exon7:c.T701C:p.L234P	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.278	0.0473225009227	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.052e-06	2.052e-06	2.723e-06	1.375e-06	2.698e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.008	0.67890	D	1.0	0.90584	D	0.999	0.92359	D	0.014868	0.28406	N	0.170336	0.999995	0.58761	D	1.935	0.51832	L	1.54	0.30133	T	0.01	0.06868	N	0.42	0.45992	-0.8741	0.50219	T	0.172	0.51389	T	10	0.46375853	0.59444	T	0.047323	0.62870	D	0.278	0.59497	0.443	0.49975	0.656034106405	0.65316	0.48139843092282486	0.48059	0.938218820823	0.72115	0.382998019457	0.22682	T	0.084347	0.37257	T	-0.0127493	0.49879	T	-0.25609	0.49213	T	0.752443822947832	0.43422	D	0.658334	0.26756	T	0.19279826	0.40964	0.22753665	0.47766	0.19279826	0.40964	0.22753665	0.47765	-3.161	0.12010	T	.	.	0.096	0.15296	B	.	.	3.370319	0.46573	22.3	0.99855498334029758	0.93458	0.85464	0.44599	D	AEFDBCI	0.634808	0.61454	D	0.501061097567554	0.67154	5.043821	0.409583849746854	0.62159	4.426994	0.999996404669723	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.508809	0.08732	0	.	.	4.15	4.15	0.47978	3.582000	0.53665	2.190000	0.31200	0.756000	0.94297	0.999000	0.42656	0.993000	0.31925	0.554000	0.30269	1.0:0.0:0.0:0.0	9.852	0.40230	6	0.99319	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1881.33	36	chr15	43774718	.	A	G	1881.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.955;DP=797;ExcessHet=0;FS=2.024;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.33;ReadPosRankSum=-0.698;SOR=0.876	GT:AD:DP:GQ:PL	0/1:91,75:166:99:1895,0,2476	18	0	1	0
chr15	45369403	45369403	G	A	exonic	GATM	.	nonsynonymous SNV	GATM:NM_001482:exon3:c.C407T:p.T136M,GATM:NM_001321015:exon6:c.C20T:p.T7M	Cerebral creatine deficiency syndrome 3, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	.	202858	not_specified|not_provided|Intellectual_disability|Arginine:glycine_amidinotransferase_deficiency|Inborn_genetic_diseases	MedGen:CN169374|MedGen:C3661900|Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756|MONDO:MONDO:0012996,MedGen:C2675179,OMIM:612718,Orphanet:35704|MeSH:D030342,MedGen:C0950123	reviewed_by_expert_panel	Benign	.	.	.	.	.	.	.	.	0.049	0.00268199246871	0.0005	.	0.0003	9.61e-05	0	0.0001	0	0.0006	0	0	0.0004075	63	154602	rs148564534	0.0006	0.0006	0.0006	0.0006	0.0007	0.0006	0.0005	0.0007	0.0007	0.0002	2.236e-05	0	5.039e-05	1.872e-05	0	0.0007	0.0005	1.159e-05	0.0006	0.0006	0.0006	0.0006	0.0008	0.0005	0.0004	0.0006	0.0006	0.0002	0.0274	0.0002	0	0	0	0	0.0008	0	0	0.121	0.27783	T	0.135	0.34596	T	0.0	0.02946	B	0.0	0.01387	B	0.000443	0.44317	N	0.286415	0.999293	0.21398	N	-0.455	0.02793	N	1.13	0.38556	T	0.08	0.89534	N	0.2	0.22098	-1.0564	0.12672	T	0.037	0.16116	T	10	0.0070399344	0.00160	T	0.002682	0.05492	T	0.049	0.13647	.	.	0.15499578495	0.15088	0.4930704292290978	0.49228	0.711518779709	0.61734	0.313004314899	0.12361	T	0.308859	0.75743	T	-0.484753	0.00695	T	-0.509624	0.21354	T	0.0244401842355728	0.01201	T	0.557244	0.19380	T	0.032073442	0.03165	0.032145467	0.01906	0.035945065	0.04328	0.03650652	0.03110	-5.012	0.38398	T	0.07242716389218568	0.02968	0.050	0.01215	B	.;.;.;.;.;.	.;.;.;.;.;.	1.701314	0.21672	15.30	0.86123845340845051	0.16329	0.39018	0.26118	N	AEFDBI	0.232484	0.35555	N	-0.675297125895383	0.16727	0.8547775	-0.456420997897515	0.23366	1.273915	0.994909082613645	0.33856	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.542086	0.14980	0	.	.	5.93	2.28	0.27583	0.773000	0.26323	1.931000	0.29771	-0.554000	0.04884	0.997000	0.40164	1.000000	0.68203	0.992000	0.67800	0.5682:0.1514:0.1514:0.129	1.756	0.02803	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	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	1343.33	34	chr15	45369403	.	G	A	1343.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.876;DP=746;ExcessHet=0;FS=0.686;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.29;ReadPosRankSum=-0.043;SOR=0.595	GT:AD:DP:GQ:PL	0/1:59,60:119:99:1357,0,1379	18	0	1	0
chr15	51480616	51480616	G	C	exonic	DMXL2	.	nonsynonymous SNV	DMXL2:NM_001378460:exon21:c.C4471G:p.L1491V,DMXL2:NM_001174117:exon22:c.C4582G:p.L1528V,DMXL2:NM_001378464:exon23:c.C6250G:p.L2084V,DMXL2:NM_001174116:exon24:c.C6490G:p.L2164V,DMXL2:NM_001378457:exon24:c.C6490G:p.L2164V,DMXL2:NM_001378458:exon24:c.C6490G:p.L2164V,DMXL2:NM_001378459:exon24:c.C6490G:p.L2164V,DMXL2:NM_001378461:exon24:c.C6490G:p.L2164V,DMXL2:NM_001378462:exon24:c.C6490G:p.L2164V,DMXL2:NM_001378463:exon24:c.C6490G:p.L2164V,DMXL2:NM_015263:exon24:c.C6490G:p.L2164V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.704	0.117777155765	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.094e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.998	0.73220	D	0.984	0.76113	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.405	0.69568	M	-2.06	0.85875	D	-2.88	0.60507	D	0.74	0.79406	0.483	0.90301	D	0.707	0.89914	D	10	0.7455675	0.75263	D	0.117777	0.79764	D	0.704	0.89376	0.462	0.53079	0.79628066686	0.79438	0.5831259576205228	0.58241	0.790969623184	0.65777	0.804797291756	0.82694	D	0.413358	0.76724	T	0.355009	0.86863	D	0.27217	0.86691	D	0.983855545520782	0.75369	D	0.938406	0.78595	D	0.71831286	0.79067	0.66708344	0.80475	0.71831286	0.79069	0.66708344	0.80476	-6.497	0.50739	T	.	.	0.783	0.76515	P	.;.;.	.;.;.	4.493995	0.70227	25.5	0.99814742571298831	0.89797	0.98484	0.83265	D	AEFBI	0.820937	0.74161	D	0.826416697591381	0.87726	9.319382	0.824365288908583	0.91435	10.88461	0.9999938428267	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.77	5.77	0.91077	6.935000	0.75699	11.904000	0.99435	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0725:0.0:0.9275:0.0	13.230	0.59363	505	0.75648	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4062	1514.26	131	chr15	51480616	.	G	C	1514.26	.	AC=13;AF=0.406;AN=32;BaseQRankSum=-4.773;DP=2473;ExcessHet=13.8672;FS=456.581;InbreedingCoeff=-0.5797;MLEAC=14;MLEAF=0.438;MQ=60;MQRankSum=0;QD=0.86;ReadPosRankSum=0.244;SOR=13.277	GT:AD:DP:GQ:PL	0/1:100,50:159:99:102,0,2258	3	0	13	3
chr15	56094836	56094836	-	GGGGTT	exonic	RFX7	.	nonframeshift insertion	RFX7:NM_001368073:exon9:c.2600_2601insAACCCC:p.T868_S869insPT,RFX7:NM_001368074:exon9:c.2600_2601insAACCCC:p.T868_S869insPT,RFX7:NM_001370554:exon9:c.2600_2601insAACCCC:p.T868_S869insPT,RFX7:NM_022841:exon10:c.2891_2892insAACCCC:p.T965_S966insPT,RFX7:NM_001370561:exon12:c.2891_2892insAACCCC:p.T965_S966insPT	.	433	1075	13	1	0	15	0.00692841	.	.	.	971021	Neurodevelopmental_disorder|not_provided	MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0	0	0	0.0039	0.0009	0.0073	0.0017	0.0004226	11	26028	rs766009038	0.0018	0.0019	0.0018	0.0018	0.0028	0.0017	0.0017	0.0022	0.0021	9.225e-05	0.0008	4.148e-05	0	0.0070	0.0028	0.0017	0.0018	0.0024	0.0018	0.0018	0.0019	0.0017	0.0034	0.0016	0.0015	0.0021	0.0019	0.0002	0.0055	0.0003	0	0	0.0071	0.0034	0.0023	0.0005	0.0034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	2805.79	35	chr15	56094836	.	C	CGGGGTT	2805.79	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.882;DP=927;ExcessHet=0.119;FS=3.854;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.99;ReadPosRankSum=-0.478;SOR=0.486	GT:AD:DP:GQ:PL	0/1:63,47:110:99:1721,0,2452	17	0	2	0
chr15	58772221	58772221	C	T	exonic	MINDY2	.	nonsynonymous SNV	MINDY2:NM_001040450:exon1:c.C826T:p.L276F,MINDY2:NM_001040453:exon1:c.C826T:p.L276F	.	420	1072	30	0	0	30	0.0137994	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	.	0.0024	0.00539137	0.0045	0.0009	0.0006	0	0	0.0036	0.0045	0.0168	0.0042949	664	154602	rs116990761	0.0040	0.0040	0.0035	0.0044	0.0175	0.0039	0.0039	0.0168	0.0165	0.0005	0.0011	0.0044	0	0.0002	0.0083	0.0034	0.0040	0.0175	0.0025	0.0025	0.0025	0.0024	0.0176	0.0022	0.0022	0.0146	0.0135	0.0006	0.0011	0.0014	0.0040	0	0.0003	0.0068	0.0032	0.0033	0.0176	0.321	0.13522	T	0.397	0.15255	T	0.062	0.23277	B	0.074	0.28220	B	0.000159	0.49130	D	0.141146	0.999961	0.52935	D	.	.	.	0.59	0.53943	T	-1.28	0.32185	N	0.162	0.20262	-1.0364	0.18419	T	0.083	0.32700	T	10	0.010864854	0.00240	T	.	.	.	0.084	0.24469	.	.	0.453679287548	0.44989	0.739232985880035	0.73868	0.154374116842	0.17432	0.675354957581	0.63603	T	0.059421	0.31111	T	-0.384419	0.02921	T	-0.311342	0.43513	T	0.0426201060313368	0.04169	T	0.827217	0.49094	T	0.3151482	0.54228	0.30089948	0.56123	0.3151482	0.54228	0.30089948	0.56122	-4.753	0.34039	T	.	.	0.160	0.41310	B	.;.	.;.	3.271835	0.44790	22.0	0.98482361848760158	0.41990	0.63465	0.32098	D	AEFDGBHCI	0.382164	0.46415	N	-0.1587078793945	0.34866	1.995554	0.0139721358362734	0.40364	2.407628	0.999999999371329	0.74766	0.40479	0.06251	1	0.516746	0.08562	0	0.52208	0.10781	0	0.665054	0.64577	0	.	.	4.95	3.82	0.43153	1.645000	0.36855	.	.	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.9142:0.0:0.0858	14.175	0.65074	910	0.22284	MINDY deubiquitinase domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005035	0.000000	0.002717	0.000000	0.000000	0.000000	0.006098	0.015152	0.05263	4954.83	35	chr15	58772221	.	C	T	4954.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.996;DP=996;ExcessHet=0.119;FS=8.606;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.43;ReadPosRankSum=-0.267;SOR=1.075	GT:AD:DP:GQ:PL	0/1:108,90:198:99:2316,0,2717	17	0	2	0
chr15	62805610	62805610	C	T	exonic	TLN2	.	nonsynonymous SNV	TLN2:NM_015059:exon48:c.C6488T:p.S2163L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.436	.	7.7e-05	0.00219649	0.0007	0	0	0.0075	0.0003	0.0002	0.0011	0	0.0006015	93	154602	rs139180466	0.0002	0.0002	0.0002	0.0002	0.0058	0.0002	0.0002	0.0052	0.0050	0	0	0.0001	0.0058	7.534e-05	0	4.448e-05	0.0001	0	0.0002	0.0002	0.0003	0.0002	0.0060	0.0002	0.0001	0.0043	0.0038	0	0	6.542e-05	0	0.0060	0	0	2.941e-05	0.0005	0	0.001	0.78490	D	0.007	0.69154	D	0.065	0.23521	B	0.035	0.22741	B	0.000002	0.62929	D	0.060752	0.999993	0.58761	D	2.28	0.64929	M	-0.47	0.70133	T	-4.64	0.80425	D	0.857	0.85343	-0.5063	0.68421	T	0.273	0.64453	T	10	0.008244067	0.00187	T	.	.	.	.	.	.	.	0.437144778361	0.43335	0.5675127718770578	0.56679	0.196203385592	0.21972	0.652168869972	0.60293	T	0.791346	0.94583	D	-0.140762	0.29768	T	0.0276403	0.72126	D	0.234126190475209	0.22147	T	0.952705	0.81989	D	0.7098172	0.78598	0.5463395	0.73776	0.7098172	0.78599	0.5463395	0.73776	-10.492	0.76801	D	.	.	0.101	0.19114	B	.;.;.	.;.;.	4.170074	0.62695	24.5	0.99862162170115354	0.94093	0.99560	0.97447	D	AEFGBI	0.943351	0.94910	D	0.212166591261603	0.51789	3.35739	0.345926357711034	0.58262	3.995823	0.999999997910255	0.74766	0.736574	0.97449	0	0.59043	0.45803	0	0.732669	0.93749	0	0.616125	0.45549	0	.	.	5.93	5.0	0.66209	7.905000	0.86479	4.832000	0.45208	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.1325:0.8675:0.0:0.0	16.411	0.83549	908	0.22609	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2939.33	33	chr15	62805610	.	C	T	2939.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.25;DP=886;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.3;ReadPosRankSum=0.766;SOR=0.686	GT:AD:DP:GQ:PL	0/1:121,118:239:99:2953,0,2875	18	0	1	0
chr15	63912195	63912195	C	T	exonic	DAPK2	.	nonsynonymous SNV	DAPK2:NM_001384999:exon8:c.G662A:p.R221Q,DAPK2:NM_001384998:exon9:c.G815A:p.R272Q	.	428	1087	7	0	0	7	0.00320954	.	.	.	717962	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	0.0002	0.0107827	0.0051	9.779e-05	0.0002	0.0001	0	4.562e-05	0.0023	0.0368	0.0044243	684	154602	rs149186606	0.0021	0.0021	0.0012	0.0030	0.0334	0.0020	0.0020	0.0324	0.0320	0.0002	8.944e-05	0	0.0001	0	0.0009	3.777e-05	0.0022	0.0334	0.0011	0.0011	0.0007	0.0015	0.0321	0.0009	0.0009	0.0280	0.0264	2.407e-05	0	0	0	0	0	0	0.0001	0.0005	0.0321	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.004028	0.000000	0.000000	0.002924	0.000000	0.017241	0.000000	0.015152	0.02632	257.33	34	chr15	63912195	.	C	T	257.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.01;DP=738;ExcessHet=0;FS=2.581;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=4.36;ReadPosRankSum=-0.954;SOR=0.887	GT:AD:DP:GQ:PL	0/1:45,14:59:99:271,0,1167	18	0	1	0
chr15	68197596	68197596	-	A	exonic	CALML4	.	frameshift insertion	CALML4:NM_001031733:exon3:c.66dupT:p.L23Sfs*55,CALML4:NM_001286694:exon3:c.108dupT:p.L37Sfs*55,CALML4:NM_033429:exon4:c.207dupT:p.L70Sfs*55	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.7e-05	.	1.659e-05	0	0	0	0	1.5e-05	0	6.091e-05	1.29e-05	2	154602	rs775548872	8.209e-06	8.209e-06	2.723e-06	1.375e-05	0.0002	4.38e-06	3.46e-06	4.579e-05	3.272e-05	0	0	0	0	0	0.0002	2.698e-06	0	9.275e-05	6.573e-06	6.567e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1015.29	35	chr15	68197596	.	G	GA	1015.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.837;DP=710;ExcessHet=0;FS=1.923;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.85;ReadPosRankSum=1.18;SOR=1.001	GT:AD:DP:GQ:PL	0/1:40,39:79:99:1029,0,1069	18	0	1	0
chr15	72219083	72219083	A	G	exonic	PKM	.	nonsynonymous SNV	PKM:NM_001206798:exon3:c.T62C:p.I21T	.	426	1089	6	1	0	8	0.00365965	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.289	0.10361631935	.	0.000998403	0.0007	9.61e-05	0	0	0	0	0	0.0047	0.0005563	86	154602	rs541388000	0.0003	0.0003	0.0002	0.0004	0.0050	0.0003	0.0003	0.0046	0.0045	0	0	0	0	0	0	6.296e-06	0.0002	0.0050	0.0001	0.0001	7.709e-05	0.0001	0.0035	7.085e-05	5.743e-05	0.0022	0.0018	0	0	0	0	0	0	0	0	0	0.0035	0.292	0.14894	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999811	0.49394	D	.	.	.	-6.33	0.99658	D	0.41	0.03407	N	0.076	0.05037	-0.2939	0.75156	T	0.938	0.97968	D	8	0.004209161	0.00084	T	0.103616	0.77775	D	0.289	0.60808	0.348	0.34436	0.624460281613	0.62141	.	.	.	.	.	.	.	.	.	.	-0.0694809	0.41409	T	0.12851	0.78795	D	0.0193804238620053	0.00643	T	0.373163	0.08852	T	.	.	.	.	.	.	.	.	-1.785	0.02465	T	.	.	0.093	0.14201	B	.	.	0.299423	0.06751	3.266	0.84416646869873946	0.15279	0.11463	0.16651	N	AEFDBHCI	0.039827	0.05838	N	-1.3400517383075	0.03229	0.1438831	-1.46183271978138	0.02665	0.1229704	0.999999999869987	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.22	-10.4	0.00257	-1.798000	0.01843	-1.023000	0.06573	-0.065000	0.16512	0.000000	0.06391	0.000000	0.08366	0.778000	0.36829	0.1017:0.1756:0.7227:0.0	16.375	0.83217	206	0.91974	.	.	.	.	.	.	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	0.02632	2695.33	33	chr15	72219083	.	A	G	2695.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.83;DP=814;ExcessHet=0;FS=1.731;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.75;ReadPosRankSum=0.353;SOR=0.619	GT:AD:DP:GQ:PL	0/1:97,99:196:99:2709,0,2602	18	0	1	0
chr15	72474694	72474696	GAG	-	exonic	ARIH1	.	nonframeshift deletion	ARIH1:NM_005744:exon1:c.55_57del:p.E20del	.	4	1509	8	1	0	10	0.00330251	.	.	.	1564042	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	0.00199681	0.0018	0.0002	0.0004	0	0	8.771e-05	0.0020	0.0094	0.0003842	10	26028	rs534030629	0.0005	0.0005	0.0003	0.0007	0.0071	0.0004	0.0004	0.0067	0.0065	3.342e-05	0.0001	0	5.758e-05	1.916e-05	0.0005	4.119e-05	0.0004	0.0071	0.0002	0.0002	0.0001	0.0003	0.0056	0.0002	0.0001	0.0040	0.0034	0	0	6.564e-05	0	0	0	0	4.426e-05	0.0005	0.0056	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002030	0.000000	0.001359	0.002994	0.000000	0.008621	0.000000	0.003817	0.02632	1771.29	41	chr15	72474693	.	TGAG	T	1771.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.295;DP=757;ExcessHet=0;FS=0.777;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.84;ReadPosRankSum=-0.45;SOR=0.548	GT:AD:DP:GQ:PL	0/1:48,46:94:99:1785,0,1874	18	0	1	0
chr15	73282980	73282980	T	G	exonic	NEO1	.	nonsynonymous SNV	NEO1:NM_001172624:exon22:c.T3246G:p.H1082Q,NEO1:NM_001172623:exon23:c.T3279G:p.H1093Q,NEO1:NM_002499:exon23:c.T3279G:p.H1093Q	.	427	1086	8	1	0	10	0.00458295	.	.	.	3202988	NEO1-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.257	0.0195022520785	.	0.000798722	0.0006	9.61e-05	0	0	0	0	0	0.0045	0.0005239	81	154602	rs551596506	0.0003	0.0003	0.0002	0.0004	0.0046	0.0003	0.0003	0.0042	0.0041	0	0	0	0	0	0.0003	3.597e-06	0.0003	0.0046	7.877e-05	7.873e-05	5.139e-05	0.0001	0.0023	4.493e-05	3.509e-05	0.0013	0.0010	2.405e-05	0	0	0	0	0	0	0	0	0.0023	0.125	0.30515	T	0.194	0.28210	T	0.104	0.25941	B	0.024	0.20255	B	0.000006	0.62929	D	0.142321	0.999763	0.48888	D	1.35	0.33515	L	0.52	0.57261	T	-2.6	0.58407	D	0.282	0.39052	-0.9119	0.46620	T	0.080	0.31556	T	10	0.010475069	0.00233	T	0.019502	0.41878	T	0.257	0.56827	0.534	0.64293	0.758761614181	0.75657	0.2128189436994116	0.21197	0.187157546737	0.21028	0.555302023888	0.46605	T	0.20713	0.56668	T	-0.313197	0.07469	T	-0.222258	0.52520	T	0.0662627806715302	0.08116	T	0.835216	0.50504	T	0.14993353	0.34157	0.18675515	0.41868	0.14993353	0.34157	0.18675515	0.41867	-3.253	0.13776	T	.	.	0.162	0.36315	B	.;.;.;.;.	.;.;.;.;.	0.372451	0.07448	4.081	0.88338966397064411	0.17899	0.10102	0.15700	N	AEFBHCI	0.084205	0.17064	N	-1.34825302006541	0.03143	0.1399291	-1.42250225168036	0.03028	0.1404736	0.999998326787571	0.74766	0.67177	0.52595	0	0.588015	0.36545	0	0.702456	0.68683	0	0.542086	0.14980	0	.	.	5.3	-8.66	0.00751	-1.537000	0.02310	-8.246000	0.01002	-0.757000	0.03535	0.003000	0.16062	0.000000	0.08366	0.614000	0.31742	0.0:0.2083:0.0:0.7917	15.610	0.76455	681	0.59854	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1997.33	33	chr15	73282980	.	T	G	1997.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.661;DP=795;ExcessHet=0;FS=1.259;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.8;ReadPosRankSum=-0.956;SOR=0.841	GT:AD:DP:GQ:PL	0/1:73,83:156:99:2011,0,1672	18	0	1	0
chr15	74591643	74591643	C	G	exonic	ARID3B	.	nonsynonymous SNV	ARID3B:NM_001307939:exon7:c.C1249G:p.R417G,ARID3B:NM_006465:exon7:c.C1249G:p.R417G	.	0	225	0	1	0	2	0.00442478	.	.	.	3290016	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.200	0.0278571001264	0.0002	.	7.519e-05	0	0	0	0	0.0001	0	0	5.17e-05	8	154602	rs372219475	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	3.02e-05	0	0	0	1.903e-05	0.0002	0.0002	6.678e-05	0.0001	0.0001	0.0001	0.0001	0.0002	0.0002	9.735e-05	8.25e-05	0.0001	0.0001	7.215e-05	0	0.0001	0	0	9.409e-05	0	0.0002	0	0.0002	0.002	0.72154	D	0.01	0.65728	D	0.998	0.73220	D	0.937	0.67262	D	0.000039	0.55875	D	0.122020	0.999962	0.52935	D	2.585	0.75554	M	0.74	0.50459	T	-2.91	0.60982	D	0.388	0.47487	-0.7263	0.59150	T	0.241	0.60941	T	10	0.3166809	0.49086	T	0.027857	0.50616	D	0.200	0.48430	.	.	0.198222871337	0.19423	0.4541212203020412	0.45330	1.5901386893	0.88511	0.46387130022	0.33841	T	0.553753	0.84937	D	-0.226982	0.17050	T	-0.245747	0.50236	T	0.336110614538086	0.26469	T	0.861114	0.55479	D	0.28688502	0.51702	0.17893524	0.40595	0.28688502	0.51702	0.17893524	0.40594	-4.077	0.24950	T	.	.	0.121	0.28607	B	.;.	.;.	2.656418	0.34597	19.67	0.99188431839275792	0.54906	0.67230	0.33358	D	AEFBI	0.418786	0.48628	N	0.12988029316729	0.47860	3.005939	-0.0199631190122659	0.38815	2.292224	0.999999992629532	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.491896	0.07777	0	.	.	5.31	5.31	0.75063	0.381000	0.20348	2.598000	0.33506	0.599000	0.40250	0.000000	0.06391	0.992000	0.31684	0.027000	0.12703	0.1917:0.8083:0.0:0.0	13.803	0.62707	702	0.57624	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000506	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	839.33	36	chr15	74591643	.	C	G	839.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.97;DP=728;ExcessHet=0;FS=5.048;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=54.95;MQRankSum=0.228;QD=12.91;ReadPosRankSum=0.138;SOR=1.452	GT:AD:DP:GQ:PL	0/1:35,30:65:99:853,0,904	18	0	1	0
chr15	77470925	77470925	G	C	exonic	HMG20A	.	nonsynonymous SNV	HMG20A:NM_001304504:exon5:c.G466C:p.A156P,HMG20A:NM_001304505:exon5:c.G127C:p.A43P,HMG20A:NM_018200:exon6:c.G466C:p.A156P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.926	0.36457501465	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0017	0.0063	0.0018	0.0016	0.0020	0.0016	0.0016	0.0019	0.0019	0.0015	7.544e-05	0.0004	0.0003	1.886e-05	0.0013	0.0020	0.0012	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	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	4.49	0.98946	H	-3.87	0.95922	D	-4.76	0.80340	D	0.951	0.95956	1.083	0.98998	D	0.959	0.98660	D	10	0.8971046	0.90150	D	0.364575	0.92596	D	0.926	0.98192	0.642	0.77903	0.968703745723	0.96836	0.8872671032323289	0.88695	1.50727079688	0.87154	0.880620002747	0.94044	D	0.900783	0.98052	D	0.576488	0.96944	D	0.590309	0.96894	D	0.999476850032806	0.97549	D	0.962604	0.86052	D	0.9461271	0.95872	0.9591841	0.98928	0.9461271	0.95872	0.9591841	0.98928	-15.627	0.97148	D	.	.	1.000	0.99585	P	.;.;.;.	.;.;.;.	6.308495	0.94988	34	0.99786623120083784	0.87308	0.99689	0.98687	D	AEFGBI	0.951203	0.96554	D	1.13537706431312	0.98738	19.20727	1.06046795470621	0.99493	23.16804	0.9999999999968	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	9.602000	0.97623	11.852000	0.98107	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	20.219	0.98314	0	0.99858	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;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	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2632	208.08	25	chr15	77470925	.	G	C	208.08	.	AC=10;AF=0.263;AN=38;BaseQRankSum=-2.769;DP=1005;ExcessHet=6.9875;FS=372.888;InbreedingCoeff=-0.3311;MLEAC=9;MLEAF=0.237;MQ=60;MQRankSum=0;QD=0.37;ReadPosRankSum=0.707;SOR=10.607	GT:AD:DP:GQ:PL	0/1:41,18:59:12:12,0,803	9	0	10	0
chr15	81290495	81290495	G	A	exonic	IL16	.	nonsynonymous SNV	IL16:NM_001172128:exon11:c.G1375A:p.E459K,IL16:NM_001352686:exon11:c.G1528A:p.E510K,IL16:NM_172217:exon11:c.G1375A:p.E459K,IL16:NM_001352685:exon12:c.G865A:p.E289K	.	420	1075	27	0	0	27	0.0124024	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.251	.	.	0.0135783	0.0105	0.0002	0.0011	0.0002	0	3.015e-05	0.0045	0.0765	0.0088615	1370	154602	rs200730945	0.0046	0.0046	0.0024	0.0068	0.0733	0.0045	0.0044	0.0717	0.0711	0.0001	8.956e-05	0	7.566e-05	0	0.0028	3.328e-05	0.0048	0.0733	0.0024	0.0024	0.0010	0.0037	0.0732	0.0022	0.0021	0.0669	0.0644	4.813e-05	0	6.533e-05	0	0.0002	0	0	1.47e-05	0.0009	0.0732	0.002	0.78490	D	0.011	0.64786	D	0.997	0.70673	D	0.961	0.70482	D	0.000409	0.44736	D	0.000000	0.999976	0.53665	D	2.34	0.67151	M	2.19	0.18724	T	-1.18	0.30140	N	0.361	0.43126	-1.0946	0.04810	T	0.098	0.36651	T	10	0.0032061934	0.00054	T	.	.	.	0.251	0.56024	0.443	0.49975	.	.	0.5396994548846176	0.53894	0.500221979732	0.48442	0.627624154091	0.56808	T	0.169673	0.58592	T	-0.229002	0.16782	T	-0.0466498	0.67252	D	0.0447532322338824	0.04557	T	0.929307	0.74183	D	0.28043443	0.51090	0.305622	0.56588	0.28043443	0.51090	0.305622	0.56587	-10.927	0.79460	D	.	.	0.233	0.49490	B	.;.;.	.;.;.	3.857957	0.55934	23.7	0.99926237934331785	0.99103	0.94383	0.60991	D	AEFBCI	0.920021	0.89138	D	0.627506272716689	0.74919	6.215501	0.548809964980565	0.71315	5.63603	0.999999999997521	0.74766	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.89	4.89	0.63387	8.102000	0.89386	9.316000	0.80002	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.572000	0.30699	0.0:0.0:1.0:0.0	18.277	0.90025	806	0.43582	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.001359	0.002924	0.000000	0.000000	0.000000	0.041667	0.1053	2378.43	34	chr15	81290495	.	G	A	2378.43	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-0.775;DP=738;ExcessHet=0.7564;FS=0.524;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=12.2;ReadPosRankSum=0.799;SOR=0.632	GT:AD:DP:GQ:PL	0/1:19,16:35:99:355,0,468	15	0	4	0
chr15	82344942	82344942	T	0	exonic	GOLGA6L10	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	1896.3	11	chr15	82344942	.	T	*	1896.3	.	AC=7;AF=0.35;AN=20;BaseQRankSum=2.09;DP=1700;ExcessHet=5.6323;FS=13.88;InbreedingCoeff=-0.3369;MLEAC=9;MLEAF=0.45;MQ=46.72;MQRankSum=0;QD=2;ReadPosRankSum=1.28;SOR=1.17	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:39,25:64:99:0|1:82344920_ATAGCCTCTCCTCCTGTTCACATAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACATAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACG_A:678,0,1383:82344920	4	1	5	9
chr15	82345004	82345025	ATAGCCTCTCCTCCTGTTCACG	0	exonic	GOLGA6L10	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2917	2625.15	3	chr15	82345004	.	ATAGCCTCTCCTCCTGTTCACG	*	2625.15	.	AC=7;AF=0.292;AN=24;BaseQRankSum=1.52;DP=1417;ExcessHet=3.7519;FS=10.225;InbreedingCoeff=-0.2602;MLEAC=9;MLEAF=0.375;MQ=46.78;MQRankSum=-7.03;QD=3.01;ReadPosRankSum=0.846;SOR=0.785	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:31,25:56:99:.:.:668,0,1428:.	6	1	5	7
chr15	82345026	82345110	TAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACAC	0	exonic	GOLGA6L10	.	.	.	.	637	825	3	0	57	60	0.00181488	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1579	1978.48	111	chr15	82345026	.	TAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACAC	*	1978.48	.	AC=6;AF=0.158;AN=38;BaseQRankSum=1.49;DP=2232;ExcessHet=5.6906;FS=1.17;InbreedingCoeff=-0.3098;MLEAC=6;MLEAF=0.158;MQ=41.92;MQRankSum=-2.412;QD=1.77;ReadPosRankSum=0.108;SOR=0.561	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:59,33:92:99:.:.:1164,0,1731:.	13	0	6	0
chr15	82345047	82345110	TAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACAC	0	exonic	GOLGA6L10	.	.	.	.	651	863	6	0	2	8	0.0034642	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	106.96	111	chr15	82345047	.	TAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACAC	*	106.96	.	AC=12;AF=0.333;AN=36;BaseQRankSum=-1.357;DP=2483;ExcessHet=13.8672;FS=1.209;InbreedingCoeff=-0.5724;MLEAC=13;MLEAF=0.361;MQ=38.64;MQRankSum=-2.151;QD=0.1;ReadPosRankSum=2.39;SOR=0.577	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:59,33:92:99:.:.:1164,0,1731:.	6	0	12	1
chr15	84512452	84512452	C	0	exonic	GOLGA6L4	.	.	.	.	671	744	60	0	47	107	0.0387597	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1389	2926.4	322	chr15	84512452	.	C	*	2926.4	.	AC=5;AF=0.139;AN=36;BaseQRankSum=-1.459;DP=2460;ExcessHet=4.0268;FS=3.021;InbreedingCoeff=-0.2881;MLEAC=5;MLEAF=0.139;MQ=45.99;MQRankSum=-0.666;QD=1.84;ReadPosRankSum=2.54;SOR=0.457	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:139,41:182:99:.:.:849,0,5346:.	13	0	5	1
chr15	84512764	84512764	T	A	exonic	GOLGA6L4	.	unknown	UNKNOWN	.	529	990	3	0	0	3	0.00151286	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1182290548	0.0003	0.0008	0.0002	0.0004	0.0041	0.0003	0.0003	0.0037	0.0036	0	7.533e-05	0.0003	0	0	0.0003	2.644e-05	0.0004	0.0041	0.0001	0.0003	0.0001	0.0002	0.0031	8.333e-05	6.742e-05	0.0017	0.0013	0	0	0	0.0008	0	0	0	4.021e-05	0.0007	0.0031	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05263	159.83	43	chr15	84512764	.	T	A	159.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.933;DP=677;ExcessHet=0.119;FS=4.553;InbreedingCoeff=-0.0555;MLEAC=2;MLEAF=0.053;MQ=37.9;MQRankSum=0.379;QD=2.19;ReadPosRankSum=0.16;SOR=1.408	GT:AD:DP:GQ:PL	0/1:25,7:32:99:149,0,796	17	0	2	0
chr15	85727404	85727404	T	C	exonic	AKAP13	.	nonsynonymous SNV	AKAP13:NM_001270546:exon21:c.T2891C:p.I964T,AKAP13:NM_006738:exon29:c.T7040C:p.I2347T,AKAP13:NM_007200:exon29:c.T7028C:p.I2343T	.	.	.	.	.	.	.	.	.	.	.	3958791	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.201	0.0179951869661	.	.	8.257e-06	0	0	0	0	1.503e-05	0	0	6.5e-06	1	154602	rs756742950	1.984e-05	1.984e-05	1.906e-05	2.063e-05	2.518e-05	1.392e-05	1.203e-05	1.746e-05	1.503e-05	0	0	0	0	0	0	2.518e-05	1.656e-05	0	6.572e-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	0.068	0.35726	T	0.087	0.42976	T	0.999	0.77913	D	0.997	0.92359	D	.	.	.	.	0.999878	0.50225	D	1.875	0.49914	L	1.0	0.41392	T	-3.11	0.63669	D	0.329	0.36989	-0.8768	0.50013	T	0.202	0.55919	T	9	0.35638416	0.52378	T	0.017995	0.39912	T	0.201	0.48592	0.292	0.25400	0.383609287871	0.37977	0.16791618606903977	0.16711	0.172126857099	0.19387	0.736145734787	0.72405	T	0.111835	0.42763	T	-0.118051	0.33442	T	-0.343703	0.39924	T	0.901494979858398	0.55424	D	0.864814	0.60756	D	0.14079054	0.32469	0.22066964	0.46850	0.14079054	0.32469	0.22066964	0.46849	-8.56	0.64825	D	.	.	0.809	0.77702	P	.;.;.;.;.	.;.;.;.;.	4.084612	0.60783	24.3	0.99835142072334548	0.91628	0.99103	0.91270	D	AEFDBIJ	0.744487	0.68746	D	0.62819629560869	0.74965	6.223183	0.65399319873491	0.78908	6.971967	0.999999999999487	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.89	5.89	0.94758	5.842000	0.69133	7.862000	0.71495	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	15.485	0.75289	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	.	.	.	.	.	.	.	.	0.02632	71.33	34	chr15	85727404	.	T	C	71.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.393;DP=1015;ExcessHet=0;FS=123.463;InbreedingCoeff=-0.0271;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.42;ReadPosRankSum=1.51;SOR=7.476	GT:AD:DP:GQ:PL	0/1:148,23:171:85:85,0,3350	18	0	1	0
chr15	88629371	88629371	G	A	exonic	AEN	.	nonsynonymous SNV	AEN:NM_022767:exon3:c.G686A:p.R229Q	.	432	1083	7	0	0	7	0.00322135	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.0100085165697	0.0002	.	0.0001	0	0	0	0	0.0001	0	0.0003	8.41e-05	13	154602	rs372061573	9.098e-05	9.098e-05	7.623e-05	0.0001	0.0024	7.823e-05	7.305e-05	0.0015	0.0012	0	2.236e-05	3.826e-05	0	1.873e-05	0.0024	6.745e-05	8.279e-05	0.0004	4.603e-05	4.597e-05	5.142e-05	4.038e-05	7.353e-05	2.111e-05	1.528e-05	2.847e-05	1.859e-05	0	0	6.549e-05	0	0	0	0	7.353e-05	0.0005	0	0.241	0.17643	T	0.482	0.11829	T	0.818	0.45651	P	0.59	0.50460	P	0.154141	0.17870	N	0.507373	1	0.08975	N	1.965	0.53209	M	1.9	0.23486	T	-1.21	0.30762	N	0.251	0.28381	-1.0750	0.08348	T	0.071	0.29034	T	10	0.13104731	0.24939	T	0.010009	0.26035	T	0.059	0.16972	.	.	0.213573922156	0.20996	0.20674422366385367	0.20590	0.378017355706	0.39229	0.354640513659	0.18602	T	0.020221	0.15960	T	-0.44473	0.01213	T	-0.560445	0.16335	T	0.0588920899104336	0.06993	T	0.522448	0.17034	T	0.13356096	0.31062	0.06925833	0.14568	0.13356096	0.31062	0.06925833	0.14567	-5.598	0.42774	T	.	.	0.098	0.16054	B	.	.	4.167249	0.62634	24.5	0.99791394173863357	0.87750	0.28443	0.23555	N	AEFDBCI	0.081555	0.16503	N	-0.0483835483648573	0.39673	2.343526	-0.0758933730450454	0.36390	2.117101	0.999999660739797	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.6	4.68	0.58319	0.745000	0.25927	7.479000	0.59237	0.676000	0.76740	0.001000	0.13787	1.000000	0.68203	0.267000	0.23694	0.1576:0.0:0.8424:0.0	9.353	0.37311	918	0.19598	Exonuclease, RNase T/DNA polymerase III|Exonuclease, RNase T/DNA polymerase 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	.	.	.	.	.	.	.	.	0.02632	715.33	47	chr15	88629371	.	G	A	715.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.31;DP=803;ExcessHet=0;FS=1.012;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.55;ReadPosRankSum=-0.846;SOR=0.917	GT:AD:DP:GQ:PL	0/1:29,28:57:99:729,0,625	18	0	1	0
chr15	89333597	89333605	TGCTGCTGC	-	exonic	POLG	.	nonframeshift deletion	POLG:NM_001126131:exon2:c.150_158del:p.Q53_Q55del,POLG:NM_002693:exon2:c.150_158del:p.Q53_Q55del	Mitochondrial DNA depletion syndrome 4A (Alpers type), Autosomal recessive;Mitochondrial DNA depletion syndrome 4B (MNGIE type), Autosomal recessive;Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), Autosomal recessive;Progressive external ophthalmoplegia, autosomal dominant 1, Autosomal dominant;Progressive external ophthalmoplegia, autosomal recessive 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	203057	not_specified|not_provided|Progressive_sclerosing_poliodystrophy|Inborn_genetic_diseases|POLG-related_disorder|Hereditary_spastic_paraplegia|Mitochondrial_DNA_depletion_syndrome_1|Sensory_ataxic_neuropathy,_dysarthria,_and_ophthalmoparesis|Progressive_external_ophthalmoplegia_with_mitochondrial_DNA_deletions,_autosomal_dominant_1|Progressive_external_ophthalmoplegia_with_mitochondrial_DNA_deletions,_autosomal_recessive_1|Mitochondrial_DNA_depletion_syndrome_4b	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700,Orphanet:726|MeSH:D030342,MedGen:C0950123|MedGen:CN180166|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685|MONDO:MONDO:0011283,MedGen:C4551995,OMIM:603041,Orphanet:298|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459,Orphanet:70595|MONDO:MONDO:0024528,MedGen:C1834846,OMIM:157640|MONDO:MONDO:0009783,MedGen:C4225153,OMIM:258450,Orphanet:254886|MONDO:MONDO:0013350,MedGen:C3150914,OMIM:613662,Orphanet:298	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	0.0025	0.0022	0.0012	0.0025	0.0006	0.0027	0.0018	0.0033	0.0014683	227	154602	rs756833779	0.0024	0.0024	0.0024	0.0024	0.0035	0.0024	0.0023	0.0026	0.0025	0.0014	0.0014	7.735e-05	0.0020	0.0003	0.0035	0.0026	0.0027	0.0024	0.0021	0.0021	0.0021	0.0021	0.0031	0.0019	0.0019	0.0024	0.0023	0.0015	0	0.0022	0.0003	0.0031	0.0002	0.0034	0.0027	0.0024	0.0031	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	13218.9	82	chr15	89333596	.	TTGCTGCTGC	T	13218.9	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.191;DP=1466;ExcessHet=2.8258;FS=0;InbreedingCoeff=-0.1515;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.86;ReadPosRankSum=0.635;SOR=0.694	GT:AD:DP:GQ:PL	0/1:34,40:74:99:1489,0,1280	18	0	1	0
chr15	89776903	89776915	AGGGCAGGGGCAG	0	exonic	MESP2	.	.	.	Spondylocostal dysostosis 2, autosomal recessive	68	42	561	596	255	2008	0.954273	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3421	25907.6	45	chr15	89776903	.	AGGGCAGGGGCAG	*	25907.6	.	AC=13;AF=0.342;AN=38;DP=1095;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=13;MLEAF=0.342;MQ=60;QD=29.14;SOR=0.727	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,9:28:99:1|0:89776889_GAGGGGCAGGGGCAAGGGCAGGGGC_G:1181,743,737:89776889	8	2	9	0
chr15	89776915	89776915	G	0	exonic	MESP2	.	.	.	Spondylocostal dysostosis 2, autosomal recessive	164	151	35	35	1137	1242	0.257985	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9118	2087.72	45	chr15	89776915	.	G	*	2087.72	.	AC=31;AF=0.912;AN=34;DP=1075;ExcessHet=0;FS=0;InbreedingCoeff=0.4414;MLEAC=32;MLEAF=0.941;MQ=60;QD=3.01;SOR=0.704	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,19:28:6:1|1:89776889_GAGGGGCAGGGGCAAGGGCAGGGGC_G:805,6,0:89776889	1	15	1	2
chr15	92630239	92630239	A	G	exonic	FAM174B	.	nonsynonymous SNV	FAM174B:NM_207446:exon2:c.T451C:p.S151P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	0.0370127425349	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.232e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.01	0.65728	D	0.999	0.77913	D	0.984	0.76113	D	0.000002	0.62929	D	0.000000	0.971522	0.81001	D	2.25	0.63811	M	0.84	0.47477	T	-3.52	0.68412	D	0.836	0.83167	-0.6952	0.60666	T	0.243	0.61142	T	10	0.6516975	0.69640	D	0.037013	0.57355	D	0.189	0.46613	0.326	0.30873	0.203808441222	0.19973	0.4683697378432957	0.46755	1.28596125054	0.82662	0.607195258141	0.53919	T	0.103651	0.41249	T	-0.0193351	0.48948	T	-0.26555	0.48267	T	0.985782146453857	0.76677	D	0.772023	0.40277	T	0.5808712	0.71656	0.694429	0.82011	0.5808712	0.71657	0.694429	0.82012	-11.545	0.82564	D	.	.	0.913	0.83689	P	.	.	3.664272	0.52068	23.2	0.99805816475953246	0.88995	0.70514	0.34622	D	AEFGBHCI	0.303491	0.41145	N	0.415262786789674	0.62260	4.439111	0.350009233512953	0.58506	4.021693	0.9999999986463	0.74766	0.730579	0.87903	0	0.696144	0.67643	0	0.709663	0.75317	0	0.648885	0.59868	0	.	.	5.38	2.88	0.32617	3.565000	0.53543	0.612000	0.20040	0.691000	0.84096	1.000000	0.71638	0.004000	0.18990	0.976000	0.56436	0.5445:0.4555:0.0:0.0	11.273	0.48384	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	.	.	.	.	.	.	.	.	0.1429	415.99	37	chr15	92630239	.	A	G	415.99	.	AC=4;AF=0.143;AN=28;BaseQRankSum=-3.793;DP=1519;ExcessHet=0.7564;FS=157.988;InbreedingCoeff=-0.2064;MLEAC=5;MLEAF=0.179;MQ=60;MQRankSum=0;QD=1.01;ReadPosRankSum=0.776;SOR=8.739	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:100,12:112:99:0|1:92630239_A_G:109,0,3938:92630239	10	0	4	5
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	.	.	.	.	.	.	.	.	0.3125	2106.89	75	chr15	92630242	.	C	G	2106.89	.	AC=5;AF=0.313;AN=16;BaseQRankSum=-1.614;DP=1407;ExcessHet=1.3;FS=208.478;InbreedingCoeff=-0.3775;MLEAC=8;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.07;ReadPosRankSum=-0.159;SOR=9.592	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:102,12:114:99:0|1:92630239_A_G:103,0,4022:92630239	3	0	5	11
chr15	92630243	92630243	C	G	exonic	FAM174B	.	nonsynonymous SNV	FAM174B:NM_207446:exon2:c.G447C:p.E149D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.00647740870007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.931e-06	0.0002	2.735e-06	1.518e-05	1.085e-05	4.98e-06	3.84e-06	5.78e-06	4.57e-06	0	0	0	0	0	0	1.085e-05	1.662e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.309	0.14064	T	0.202	0.27414	T	0.905	0.49920	P	0.642	0.52168	P	0.000043	0.53742	D	0.070627	0.877532	0.28105	N	1.29	0.32370	L	1.32	0.35219	T	-1.78	0.42001	N	0.393	0.43417	-0.9486	0.41211	T	0.094	0.35631	T	10	0.22394639	0.39186	T	0.006477	0.17072	T	0.082	0.23913	0.268	0.21576	0.0138822411134	0.00435	0.271622458937736	0.27075	1.10128899491	0.77738	0.574964404106	0.49377	T	0.036879	0.24268	T	-0.214669	0.18726	T	-0.546133	0.17699	T	0.845151245594025	0.49752	D	0.824917	0.48720	T	0.10445555	0.24694	0.09527147	0.22589	0.10445555	0.24694	0.09527147	0.22588	-7.313	0.56288	T	.	.	0.225	0.45665	B	.	.	2.210674	0.28203	17.72	0.74021373359626774	0.10541	0.42009	0.26783	N	AEFGBHCI	0.099426	0.20014	N	-0.41939284014467	0.24789	1.341029	-0.432723637638818	0.24043	1.31443	0.999999998690202	0.74766	0.730579	0.87903	0	0.696144	0.67643	0	0.709663	0.75317	0	0.648885	0.59868	0	.	.	5.38	-3.77	0.04062	0.178000	0.16634	-0.583000	0.08366	-0.257000	0.07002	0.993000	0.37899	0.025000	0.21018	0.980000	0.58198	0.0:0.31:0.0:0.69	12.886	0.57433	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	.	.	.	.	.	.	.	.	0.3125	2099.97	75	chr15	92630243	.	C	G	2099.97	.	AC=5;AF=0.313;AN=16;BaseQRankSum=-1.828;DP=1406;ExcessHet=1.3;FS=208.478;InbreedingCoeff=-0.3798;MLEAC=8;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.06;ReadPosRankSum=-0.142;SOR=9.575	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:102,11:113:96:0|1:92630239_A_G:96,0,4025:92630239	3	0	5	11
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	.	.	.	.	.	.	.	.	0.1364	1763.55	134	chr15	92630245	.	C	G	1763.55	.	AC=3;AF=0.136;AN=22;BaseQRankSum=-3.598;DP=1693;ExcessHet=0.3672;FS=355.6;InbreedingCoeff=-0.23;MLEAC=4;MLEAF=0.182;MQ=60;MQRankSum=0;QD=5.62;ReadPosRankSum=1.61;SOR=8.254	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:102,11:113:99:0|1:92630239_A_G:119,0,4045:92630239	8	0	3	8
chr15	92630248	92630248	C	G	exonic	FAM174B	.	nonsynonymous SNV	FAM174B:NM_207446:exon2:c.G442C:p.D148H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.233	0.061949749731	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	7.525e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.004	0.74150	D	1.0	0.90584	D	0.981	0.75168	D	0.000043	0.53742	D	0.070627	0.900708	0.50402	D	2.31	0.66127	M	0.33	0.58323	T	-5.55	0.86222	D	0.575	0.59732	-0.2875	0.75334	T	0.366	0.72628	T	10	0.7053839	0.72704	D	0.06195	0.68497	D	0.414	0.72479	0.564	0.68499	0.270889551736	0.26708	0.5128981161307481	0.51211	1.26599244295	0.82158	0.566754460335	0.48220	T	0.120299	0.44244	T	0.0290487	0.55597	T	-0.19605	0.55021	T	0.996697545051575	0.89883	D	0.909109	0.67839	D	0.73887527	0.80228	0.72065765	0.83506	0.73887527	0.80230	0.72065765	0.83507	-15.3	0.96517	D	.	.	0.796	0.77121	P	.	.	5.036038	0.83793	28.1	0.9865365078314744	0.44233	0.88917	0.49082	D	AEFGBHCI	0.873922	0.79653	D	0.477504834894099	0.65780	4.865564	0.540136420362585	0.70713	5.545969	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	.	.	.	.	.	.	.	.	0.3	1884.22	103	chr15	92630248	.	C	G	1884.22	.	AC=3;AF=0.3;AN=10;BaseQRankSum=-2.249;DP=1430;ExcessHet=0.3672;FS=362.549;InbreedingCoeff=-0.3571;MLEAC=6;MLEAF=0.6;MQ=60;MQRankSum=0;QD=5.71;ReadPosRankSum=0.973;SOR=8.254	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:101,11:112:99:0|1:92630239_A_G:121,0,4038:92630239	2	0	3	14
chr15	101286926	101286926	G	T	exonic	SNRPA1	.	nonsynonymous SNV	SNRPA1:NM_003090:exon5:c.C441A:p.F147L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.407	0.045965768099	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	5.474e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.91255	D	0.003	0.92824	D	0.987	0.61912	D	0.873	0.61978	P	0.000000	0.84330	D	0.048660	0.999997	0.58761	D	3.09	0.87444	M	0.19	0.60236	T	-5.78	0.87988	D	0.674	0.68169	-0.3079	0.74764	T	0.393	0.74634	T	10	0.6701731	0.70665	D	0.045966	0.62234	D	0.407	0.71946	0.5	0.59147	0.455266876523	0.45150	0.7542034499030285	0.75367	1.76704590817	0.91229	0.920951247215	0.98395	D	0.163305	0.69267	T	0.0781287	0.61820	D	-0.12555	0.61344	T	0.997008264064789	0.90554	D	0.974903	0.97997	D	0.9106666	0.92357	0.8085664	0.88809	0.9106666	0.92358	0.8085664	0.88810	-12.342	0.86477	D	.	.	1.000	0.99795	P	.;.;.	.;.;.	4.461144	0.69433	25.4	0.99809163750453367	0.89353	0.88574	0.48565	D	AEFBCI	0.495716	0.53096	N	0.534835810102984	0.69163	5.318362	0.431172223667125	0.63516	4.586962	0.998234000556445	0.36618	0.732398	0.92422	0	0.698795	0.70079	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	5.29	3.0	0.33773	2.387000	0.44043	5.614000	0.49064	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.2526:0.0:0.7474:0.0	9.227	0.36573	963	0.08280	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2740.33	42	chr15	101286926	.	G	T	2740.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.026;DP=824;ExcessHet=0;FS=1.805;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.2;ReadPosRankSum=-0.321;SOR=0.842	GT:AD:DP:GQ:PL	0/1:84,109:193:99:2754,0,1981	18	0	1	0
chr16	869948	869948	G	A	exonic	LMF1	.	nonsynonymous SNV	LMF1:NM_001352019:exon9:c.C1024T:p.R342W,LMF1:NM_001352021:exon9:c.C700T:p.R234W,LMF1:NM_022773:exon9:c.C1351T:p.R451W,LMF1:NM_001352017:exon10:c.C700T:p.R234W,LMF1:NM_001352018:exon10:c.C952T:p.R318W	Lipase deficiency, combined, Autosomal recessive	0	1473	46	3	0	52	0.0173449	.	.	.	715141	not_specified|not_provided|Cardiovascular_phenotype	MedGen:CN169374|MedGen:C3661900|MedGen:CN230736	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.197	.	0.0036	0.00319489	0.0044	0.0009	0.0029	0.0002	0.0003	0.0051	0.0024	0.0085	0.0040103	620	154602	rs138205062	0.0032	0.0032	0.0030	0.0035	0.0097	0.0032	0.0031	0.0077	0.0070	0.0003	0.0029	0.0307	7.557e-05	0.0002	0.0097	0.0025	0.0046	0.0077	0.0027	0.0027	0.0027	0.0028	0.0089	0.0025	0.0024	0.0068	0.0061	0.0005	0.0011	0.0024	0.0308	0	0.0002	0.0170	0.0028	0.0043	0.0089	0.001	0.78490	D	0.047	0.48855	D	1.0	0.90584	D	0.953	0.69275	D	0.000529	0.43581	D	0.191670	0.999913	0.22847	N	2.495	0.72670	M	1.84	0.24656	T	-6.24	0.91653	D	0.519	0.54932	-0.9274	0.44516	T	0.106	0.38808	T	10	0.019373447	0.00432	T	.	.	.	0.197	0.47942	.	.	0.415313616471	0.41148	0.8682073029833872	0.86785	0.065644791509	0.07326	0.42916893959	0.29095	T	0.236001	0.60339	T	-0.299973	0.08661	T	-0.198399	0.54798	T	0.0429254642760061	0.04223	T	0.978802	0.92845	D	0.4533618	0.64254	0.5101485	0.71692	0.43992075	0.63398	0.51760584	0.72129	-9.475	0.71492	D	.	.	0.111	0.37914	B	.;.;.	.;.;.	5.004734	0.83070	27.9	0.99839277043859609	0.91972	0.16400	0.19371	N	AEFBI	0.551345	0.56345	D	0.0530719007377787	0.44284	2.705245	-0.132828435333843	0.34075	1.956122	1.31906305284255E-4	0.05486	0.706298	0.61202	0	0.633656	0.55848	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	5.16	1.68	0.23219	0.806000	0.26786	3.298000	0.37359	0.676000	0.76740	0.130000	0.23345	1.000000	0.68203	0.427000	0.27384	0.0:0.0:0.5675:0.4325	13.727	0.62249	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	0.010585	0.005051	0.009511	0.014793	0.000000	0.008621	0.015337	0.007576	0.05263	2623.83	114	chr16	869948	.	G	A	2623.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.827;DP=813;ExcessHet=0.119;FS=1.079;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.61;ReadPosRankSum=2.12;SOR=0.593	GT:AD:DP:GQ:PL	0/1:48,46:94:99:1111,0,1104	17	0	2	0
chr16	1397277	1397277	A	0	exonic	UNKL	.	.	.	.	28	20	70	25	83	203	0.75	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5357	10029.7	66	chr16	1397277	.	A	*	10029.7	.	AC=15;AF=0.536;AN=28;BaseQRankSum=-1.758;DP=1398;ExcessHet=0.25;FS=0;InbreedingCoeff=0.1529;MLEAC=18;MLEAF=0.643;MQ=59.46;MQRankSum=-1.388;QD=12.54;ReadPosRankSum=2.26;SOR=0.628	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:42,30:72:99:0|1:1397263_TCCCCGTGCTTCACACTGGGGCAGGGCGTGGACCTGGGGATGAGGAGGTGTCAGGGGGACACAGAGGACTTGGCTCCCCGCCCCCCAC_T:924,0,1264:1397263	4	5	5	5
chr16	1397281	1397281	G	0	exonic	UNKL	.	.	.	.	375	758	197	191	1	580	0.276372	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3824	667.98	41	chr16	1397281	.	G	*	667.98	.	AC=13;AF=0.382;AN=34;DP=1054;ExcessHet=0.0009;FS=0;InbreedingCoeff=0.6222;MLEAC=14;MLEAF=0.412;MQ=59.33;QD=1.62;SOR=0.751	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:42,30:72:99:0|1:1397263_TCCCCGTGCTTCACACTGGGGCAGGGCGTGGACCTGGGGATGAGGAGGTGTCAGGGGGACACAGAGGACTTGGCTCCCCGCCCCCCAC_T:924,0,1264:1397263	9	5	3	2
chr16	1495414	1495414	T	C	exonic	TELO2	.	nonsynonymous SNV	TELO2:NM_001351846:exon3:c.T404C:p.V135A,TELO2:NM_016111:exon3:c.T404C:p.V135A	You-Hoover-Fong syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	3842243	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.086	0.0394414839464	.	.	0.0003	0	0	0	0	0.0001	0	0.0008	7.12e-05	11	154602	rs762648784	2.915e-05	3.01e-05	1.516e-05	4.332e-05	0.0005	2.183e-05	1.935e-05	0.0003	0.0003	0	0	0	0	0	0	9.068e-07	3.362e-05	0.0005	1.971e-05	1.97e-05	1.284e-05	2.689e-05	0.0006	5.24e-06	2.45e-06	0.0002	8.977e-05	0	0	0	0	0	0	0	0	0	0.0006	0.252	0.17014	T	0.288	0.21144	T	0.0	0.02946	B	0.001	0.04355	B	0.035340	0.24657	N	0.402364	1	0.08975	N	-1.63	0.00401	N	-1.64	0.82533	D	0.78	0.01921	N	0.041	0.01421	-0.8472	0.52161	T	0.123	0.42462	T	10	0.013909608	0.00294	T	0.039441	0.58808	D	0.086	0.25016	0.381	0.39807	0.146414634003	0.14194	0.12237286877060714	0.12164	0.143293746968	0.16171	0.293380588293	0.09417	T	0.020745	0.16281	T	-0.492574	0.00629	T	-0.574239	0.15062	T	0.0345896322740666	0.02739	T	0.426357	0.11459	T	0.024242496	0.01236	0.031121107	0.01657	0.024242496	0.01236	0.031121107	0.01657	-1.947	0.02987	T	0.05715998029730394	0.01372	0.062	0.01309	B	.	.	-0.182745	0.03181	0.521	0.51259119204139081	0.04530	0.02238	0.06495	N	AEFDBCI	0.031574	0.03406	N	-1.54783872246797	0.01547	0.06758215	-1.46058290461467	0.02676	0.1235025	0.999920114670987	0.46280	0.634777	0.41761	0	0.606735	0.50208	0	0.643519	0.47002	0	0.635551	0.53088	0	.	.	5.33	-0.878	0.10079	0.100000	0.15067	0.717000	0.20982	-0.201000	0.08892	0.006000	0.17386	0.151000	0.23179	0.005000	0.06747	0.1797:0.5202:0.0:0.3001	6.019	0.18847	784	0.47045	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	713.33	34	chr16	1495414	.	T	C	713.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.702;DP=708;ExcessHet=0;FS=1.048;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.74;ReadPosRankSum=0.09;SOR=0.941	GT:AD:DP:GQ:PL	0/1:26,30:56:99:727,0,731	18	0	1	0
chr16	1788168	1788168	G	A	exonic	NUBP2	.	nonsynonymous SNV	NUBP2:NM_001284502:exon5:c.G185A:p.R62Q,NUBP2:NM_012225:exon6:c.G631A:p.G211R,NUBP2:NM_001284501:exon7:c.G451A:p.G151R	.	.	.	.	.	.	.	.	.	.	.	797269	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.493	0.223429128964	.	.	2.712e-05	0	0	0	0	4.633e-05	0	0	1.29e-05	2	154602	rs773854014	2.242e-05	2.805e-05	2.428e-05	2.052e-05	0.0002	1.607e-05	1.4e-05	1.422e-05	1.188e-05	0	0	4.511e-05	2.656e-05	0	0.0002	2.136e-05	3.514e-05	3.971e-05	1.314e-05	1.313e-05	2.569e-05	0	6.539e-05	2.18e-06	8.2e-07	.	.	0	0	6.539e-05	0	0	0	0	1.471e-05	0	0	0.0	0.91255	D	0.014	0.83351	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.735	0.99541	H	0.98	0.42122	T	-7.33	0.94566	D	0.846	0.86404	0.243	0.86630	D	0.422	0.76684	T	10	0.87956935	0.87262	D	0.223429	0.87901	D	0.493	0.77910	0.673	0.81101	0.662238901992	0.65940	0.9468772292722727	0.94670	0.590403708123	0.54503	0.734736442566	0.72199	T	0.288249	0.66104	T	0.23456	0.77150	D	0.0991534	0.76852	D	0.911212624992719	0.56671	D	0.987151	0.96210	D	0.95923316	0.97202	0.92362213	0.96652	0.95923316	0.97203	0.92362213	0.96652	-14.644	0.94962	D	.	.	0.931	0.85099	P	.;.;.	.;.;.	5.856721	0.93840	33	0.99911617300480282	0.98095	0.92417	0.55664	D	AEFBCI	0.764136	0.70102	D	0.826976718980019	0.87763	9.331375	0.659743900168597	0.79339	7.061359	0.999999999994765	0.74766	0.706548	0.73137	0	0.643519	0.57511	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.38	4.38	0.52019	6.923000	0.75636	8.517000	0.77410	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.881000	0.42162	0.0:0.0:1.0:0.0	15.864	0.78824	565	0.70868	.;.;.	.	.	.	.	.	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	0.003043	0.005155	0.005464	0.003012	0.000000	0.000000	0.000000	0.003817	0.02632	1278.33	33	chr16	1788168	.	G	A	1278.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.96;DP=760;ExcessHet=0;FS=3.339;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.51;ReadPosRankSum=0.452;SOR=0.39	GT:AD:DP:GQ:PL	0/1:31,42:73:99:1292,0,844	18	0	1	0
chr16	11477909	11477909	C	A	exonic	LOC400499	.	nonsynonymous SNV	LOC400499:NM_001370704:exon18:c.G2461T:p.A821S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.052e-06	1.59e-06	0	7.994e-06	.	0	0	.	.	0	0	0	0	0	0	0	6.107e-05	0	6.573e-06	6.567e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999712	0.20609	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11388022	0.21408	T	.	.	.	.	.	.	.	0.356281029322	0.35234	.	.	.	.	.	.	.	.	.	.	-0.179109	0.23869	T	-0.495054	0.22861	T	.	.	.	0.50155	0.15709	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	0.34449	B	.	.	0.550408	0.09190	5.973	0.75630595171389625	0.11150	0.04402	0.09988	N	AEFDBI	0.093987	0.19010	N	.	.	.	.	.	.	0.0968839242636867	0.16265	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	4.1	-0.328	0.12061	0.368000	0.20132	-2.780000	0.03369	0.549000	0.26987	0.106000	0.22914	0.000000	0.08366	0.002000	0.04165	0.0:0.6157:0.0:0.3843	8.079	0.29895	958	0.09170	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	787.33	36	chr16	11477909	.	C	A	787.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.18;DP=757;ExcessHet=0;FS=0.783;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.57;ReadPosRankSum=3.85;SOR=0.853	GT:AD:DP:GQ:PL	0/1:67,37:104:99:801,0,1864	18	0	1	0
chr16	11927452	11927458	GCGGCCC	0	exonic	NPIPB2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	2995.78	34	chr16	11927452	.	GCGGCCC	*	2995.78	.	AC=5;AF=0.132;AN=38;BaseQRankSum=2.46;DP=1582;ExcessHet=2.0135;FS=1.863;InbreedingCoeff=-0.1875;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=3.11;ReadPosRankSum=-1.288;SOR=0.898	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:112,85:197:99:0|1:11927441_GTTCCACCTCAGCGGCCCTCCGCCTCTTGGGTTCGGGTGGTGA_G:2893,0,4337:11927441	14	0	5	0
chr16	11927459	11927495	TCCGCCTCTTGGGTTCGGGTGGTGATTCCACCTCAGC	0	exonic	NPIPB2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	2954.78	34	chr16	11927459	.	TCCGCCTCTTGGGTTCGGGTGGTGATTCCACCTCAGC	*	2954.78	.	AC=5;AF=0.132;AN=38;BaseQRankSum=1.07;DP=1597;ExcessHet=2.0135;FS=2.628;InbreedingCoeff=-0.1875;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=3.02;ReadPosRankSum=-0.684;SOR=0.912	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:112,85:197:99:0|1:11927441_GTTCCACCTCAGCGGCCCTCCGCCTCTTGGGTTCGGGTGGTGA_G:2893,0,4337:11927441	14	0	5	0
chr16	11927475	11927475	G	0	exonic	NPIPB2	.	.	.	.	1	10	87	120	8	335	0.942363	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1579	65183.6	187	chr16	11927475	.	G	*	65183.6	.	AC=6;AF=0.158;AN=38;BaseQRankSum=1.94;DP=3186;ExcessHet=0.0151;FS=0.819;InbreedingCoeff=0.4571;MLEAC=6;MLEAF=0.158;MQ=59.99;MQRankSum=0;QD=21.88;ReadPosRankSum=-0.239;SOR=0.763	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,85:194:99:1|0:11927441_GTTCCACCTCAGCGGCCCTCCGCCTCTTGGGTTCGGGTGGTGA_G:6276,3298,4216:11927441	13	0	6	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	.	.	.	.	.	.	.	.	0.3947	3525.85	234	chr16	14582206	.	G	C	3525.85	.	AC=15;AF=0.395;AN=38;BaseQRankSum=-2.534;DP=3197;ExcessHet=20.8569;FS=372.816;InbreedingCoeff=-0.6523;MLEAC=15;MLEAF=0.395;MQ=60;MQRankSum=0;QD=1.44;ReadPosRankSum=1.41;SOR=13.96	GT:AD:DP:GQ:PL	0/1:130,48:178:50:50,0,2247	4	0	15	0
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2105	1416.55	75	chr16	14667707	.	GCCCC	G	1416.55	.	AC=8;AF=0.211;AN=38;BaseQRankSum=-0.548;DP=1073;ExcessHet=4.0268;FS=83.656;InbreedingCoeff=-0.2788;MLEAC=8;MLEAF=0.211;MQ=60;MQRankSum=0;QD=2.24;ReadPosRankSum=0.47;SOR=9.431	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:66,14:80:99:0|1:14667707_GCCCC_G:180,0,2597:14667707	11	0	8	0
chr16	14667711	14667711	-	GGGG	exonic	BFAR	.	frameshift insertion	BFAR:NM_001330500:exon6:c.862_863insGGGG:p.L288Rfs*19,BFAR:NM_016561:exon8:c.1237_1238insGGGG:p.L413Rfs*19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	1294.52	71	chr16	14667711	.	C	CGGGG	1294.52	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-0.478;DP=1124;ExcessHet=4.0268;FS=78.34;InbreedingCoeff=-0.2788;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=2.06;ReadPosRankSum=0.638;SOR=9.332	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:66,14:80:99:0|1:14667707_GCCCC_G:180,0,2597:14667707	15	0	4	0
chr16	18324497	18324497	A	C	exonic	NPIPA7;NPIPA8	.	nonsynonymous SNV	NPIPA7:NM_001282507:exon3:c.T194G:p.V65G,NPIPA8:NM_001282511:exon4:c.T194G:p.V65G	.	766	727	19	10	0	39	0.0261219	0.0004	0.002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.175	.	.	0.00339457	0.0124	0	0	0	0	0.0168	0.1	0.0106	0.0006531	17	26028	rs562309429	0.0057	0.0057	0.0047	0.0065	0.0198	0.0055	0.0054	0.0188	0.0184	0.0009	0.0030	0.0112	0	0.0011	0.0184	0.0041	0.0057	0.0198	0.0041	0.0041	0.0038	0.0044	0.0213	0.0037	0.0035	0.0164	0.0147	0.0013	0	0.0021	0.0115	0	0.0006	0.0225	0.0042	0.0067	0.0213	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.57	0.54347	T	-4.81	0.80767	D	0.497	0.53006	-0.6936	0.60740	T	0.178	0.52350	T	3	0.014665723	0.00308	T	.	.	.	0.175	0.44197	.	.	0.302459207581	0.29844	0.019284102858280108	0.01882	.	.	.	.	.	0.091902	0.38892	T	-0.332444	0.05928	T	-0.26354	0.48469	T	0.0654364969637405	0.07995	T	.	.	.	0.5432569	0.69578	0.5640874	0.74772	0.5432569	0.69580	0.5640874	0.74773	-3.675	0.18950	T	.	.	0.375	0.59606	A	.;.	.;.	2.277649	0.29118	18.02	0.97365626384824433	0.33598	0.03196	0.08188	N	AEFI	0.057269	0.10653	N	0.124761660474647	0.47620	2.985151	-0.308007490123161	0.27839	1.547661	1.10566401661356E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	.	.	.	0.741000	0.25870	-0.174000	0.11198	0.232000	0.18153	0.998000	0.41325	0.000000	0.08366	0.052000	0.15357	.	.	.	964	0.07719	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05882	872.44	18	chr16	18324497	.	A	C	872.44	.	AC=2;AF=0.059;AN=34;BaseQRankSum=1.3;DP=530;ExcessHet=0.1336;FS=0.909;InbreedingCoeff=-0.0625;MLEAC=2;MLEAF=0.059;MQ=29.92;MQRankSum=1.47;QD=11.95;ReadPosRankSum=-0.231;SOR=0.899	GT:AD:DP:GQ:PL	0/1:14,24:38:99:550,0,260	15	0	2	2
chr16	19669186	19669186	A	G	exonic	VPS35L	.	nonsynonymous SNV	VPS35L:NM_001300743:exon24:c.A1969G:p.S657G,VPS35L:NM_001365294:exon25:c.A2047G:p.S683G,VPS35L:NM_001365293:exon26:c.A2170G:p.S724G,VPS35L:NM_020314:exon27:c.A2248G:p.S750G,VPS35L:NM_001365295:exon28:c.A1360G:p.S454G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.0120831541518	.	.	8.243e-06	0	8.643e-05	0	0	0	0	0	6.5e-06	1	154602	rs781713958	4.799e-06	4.788e-06	4.09e-06	5.516e-06	0.0003	2e-06	1.28e-06	6.099e-05	2.524e-05	0	2.238e-05	0	0	0	0.0003	2.704e-06	1.659e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	0.24183	T	0.145	0.33000	T	0.003	0.11197	B	0.006	0.12133	B	0.000002	0.62929	N	0.160814	0.773244	0.34176	D	.	.	.	0.77	0.49642	T	-2.48	0.54059	N	0.239	0.34874	-0.9706	0.37073	T	0.097	0.36315	T	9	0.16902834	0.31487	T	0.012083	0.30328	T	0.072	0.21020	0.333	0.32005	0.516547797517	0.51297	0.3100665600917129	0.30919	0.210394736995	0.23529	.	.	.	0.090184	0.38532	T	-0.161234	0.26572	T	-0.386513	0.34959	T	0.325473470904242	0.26042	T	0.841716	0.54193	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	0.12655	B	.;.;.;.;.;.	.;.;.;.;.;.	2.817709	0.37108	20.4	0.99364979135562326	0.61198	0.93464	0.58287	D	AEFBI	0.655662	0.62792	D	-0.195405462936879	0.33325	1.889376	-0.0272086473775845	0.38491	2.26845	0.281287868749608	0.18991	0.744818	0.98587	0	0.724815	0.89359	0	0.732433	0.93434	0	0.714379	0.83352	0	.	.	5.51	4.39	0.52211	4.098000	0.57478	4.076000	0.41702	0.756000	0.94297	1.000000	0.71638	0.998000	0.33993	0.917000	0.45243	0.9296:0.0:0.0704:0.0	11.701	0.50837	676	0.60355	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.005051	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	407.33	33	chr16	19669186	.	A	G	407.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.818;DP=656;ExcessHet=0;FS=1.263;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.26;ReadPosRankSum=0.76;SOR=0.467	GT:AD:DP:GQ:PL	0/1:27,17:44:99:421,0,785	18	0	1	0
chr16	23069332	23069332	G	C	exonic	USP31	.	nonsynonymous SNV	USP31:NM_020718:exon16:c.C2773G:p.P925A	.	425	1062	33	2	0	37	0.0171217	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	.	0.0003	0.000998403	0.0024	9.641e-05	0.0003	0	0	0.0010	0.0023	0.0158	0.0022121	342	154602	rs141634001	0.0013	0.0014	0.0009	0.0018	0.0140	0.0013	0.0013	0.0133	0.0131	6.028e-05	0.0002	0.0003	2.528e-05	7.542e-05	0.0081	0.0006	0.0014	0.0140	0.0011	0.0011	0.0011	0.0010	0.0118	0.0009	0.0009	0.0094	0.0085	9.619e-05	0.0351	0.0001	0.0006	0	9.423e-05	0.0102	0.0008	0.0014	0.0118	0.135	0.26192	T	0.039	0.51112	D	0.0	0.02946	B	0.0	0.01387	B	0.218837	0.03439	N	1.754940	1	0.08975	N	1.7	0.43825	L	3.18	0.23884	T	-0.29	0.11728	N	0.053	0.14480	-0.9923	0.32012	T	0.021	0.08778	T	10	0.0021762252	0.00031	T	.	.	.	0.052	0.14661	.	.	0.407632638399	0.40377	0.1907764888670964	0.18995	0.22218228433	0.24755	0.25538033247	0.04355	T	0.007357	0.06771	T	-0.66129	0.00062	T	-0.710997	0.05244	T	0.0182750649148329	0.00546	T	0.645735	0.25721	T	0.041194297	0.06020	0.048098188	0.07073	0.041194297	0.06020	0.048098188	0.07073	-3.268	0.13328	T	.	.	0.060	0.01328	B	.;.	.;.	0.157530	0.05486	1.952	0.89360694669253948	0.18730	0.17158	0.19715	N	AEFDBI	0.082197	0.16642	N	-0.761764257807194	0.14315	0.7121154	-0.84167176139048	0.13488	0.6999429	0.997918275805011	0.36186	0.562547	0.31514	0	0.546412	0.12157	0	0.575934	0.27490	0	0.635551	0.53088	0	.	.	6.16	-3.78	0.04049	0.118000	0.15436	0.478000	0.18778	0.676000	0.76740	0.001000	0.13787	0.013000	0.20296	0.966000	0.53164	0.2567:0.4476:0.2957:0.0	8.026	0.29599	437	0.80299	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006042	0.005051	0.002717	0.002924	0.050000	0.000000	0.009146	0.015152	0.05263	4359.83	39	chr16	23069332	.	G	C	4359.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.66;DP=1128;ExcessHet=0.119;FS=3.869;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.41;ReadPosRankSum=0.27;SOR=0.772	GT:AD:DP:GQ:PL	0/1:117,87:204:99:2172,0,2919	17	0	2	0
chr16	28975191	28975191	G	C	exonic	SPNS1	.	nonsynonymous SNV	SPNS1:NM_001142449:exon1:c.G40C:p.D14H,SPNS1:NM_001142451:exon1:c.G40C:p.D14H,SPNS1:NM_032038:exon1:c.G40C:p.D14H,SPNS1:NM_001142448:exon2:c.G40C:p.D14H	.	412	1106	4	0	0	4	0.00180505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	0.0124805224718	.	.	0	0	0	0	0	0	0	0	6.5e-06	1	154602	rs764305296	3.791e-05	3.967e-05	2.912e-05	4.707e-05	0.0018	2.93e-05	2.649e-05	0.0008	0.0006	0	3.262e-05	0	0	0	0.0018	1.896e-05	0.0001	0.0002	1.314e-05	1.313e-05	1.284e-05	1.344e-05	2.939e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0	0.006	0.91255	D	0.017	0.72224	D	0.999	0.90584	D	0.936	0.88582	D	0.000402	0.44736	D	0.153798	0.981375	0.81001	D	0.345	0.11182	N	1.86	0.39401	T	-1.37	0.33998	N	0.23	0.25989	-0.8658	0.50842	T	0.159	0.49195	T	10	0.14930916	0.28259	T	0.012481	0.31090	T	0.055	0.15663	0.212	0.13066	0.28297238246	0.27903	0.47894881177042264	0.47814	0.779126380547	0.65190	0.730525016785	0.71582	T	0.020691	0.66471	T	-0.288006	0.09837	T	-0.355285	0.38598	T	0.208011254668236	0.20849	T	0.868113	0.66975	D	0.22579351	0.45247	0.16470201	0.38139	0.22579351	0.45247	0.16470201	0.38139	-4.439	0.30705	T	.	.	0.292	0.52351	B	.;.;.;.;.;.	.;.;.;.;.;.	5.068765	0.84532	28.3	0.99450489599159853	0.65274	0.36013	0.25435	N	AEFDBCIJ	0.243286	0.36459	N	0.459965745550926	0.64769	4.739255	0.460818946443424	0.65414	4.82087	0.999999974430561	0.74766	0.733237	0.96898	0	0.600757	0.49542	0	0.600757	0.32118	0	0.621717	0.48901	0	.	.	4.47	4.47	0.53770	2.320000	0.43456	9.865000	0.82085	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	12.812	0.57025	479	0.77495	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	975.33	34	chr16	28975191	.	G	C	975.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.84;DP=727;ExcessHet=0;FS=3.548;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.48;ReadPosRankSum=1.25;SOR=1.172	GT:AD:DP:GQ:PL	0/1:30,33:63:99:989,0,847	18	0	1	0
chr16	29485668	29485668	C	0	exonic	NPIPB12	.	.	.	.	580	711	64	0	167	231	0.0430686	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3529	533.97	122	chr16	29485668	.	C	*	533.97	.	AC=12;AF=0.353;AN=34;BaseQRankSum=-2.51;DP=2515;ExcessHet=20.8569;FS=6.844;InbreedingCoeff=-0.7273;MLEAC=13;MLEAF=0.382;MQ=28.71;MQRankSum=-1.012;QD=0.28;ReadPosRankSum=-0.682;SOR=0.237	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:99,53:152:99:0|1:29485610_ACACACTC_A:1082,0,3574:29485610	5	0	12	2
chr16	30223211	30223255	CCCTCCGCCTCTTGGGTTTGGGTGATGATGGTTCCACGTCAGCGG	-	exonic	NPIPB12;NPIPB13	.	nonframeshift deletion	NPIPB13:NM_001321892:exon9:c.3191_3235del:p.A1064_R1078del,NPIPB12:NM_001355401:exon11:c.2561_2605del:p.A854_R868del	.	1236	283	0	3	0	6	0.0104895	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0039	0.0003	0.0038	0.0040	0.0161	0.0030	0.0026	0.0055	0.0039	0	0.0011	0	0.0161	0	0	0.0060	0	0.0007	0	0.0010	0	0	.	0	0	.	.	0	0	0	.	.	0	0	0	.	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03571	71.43	2	chr16	30223210	.	ACCCTCCGCCTCTTGGGTTTGGGTGATGATGGTTCCACGTCAGCGG	A	71.43	.	AC=1;AF=0.036;AN=28;BaseQRankSum=-0.967;DP=60;ExcessHet=0;FS=0;InbreedingCoeff=0.0689;MLEAC=2;MLEAF=0.071;MQ=36.77;MQRankSum=0.967;QD=23.81;ReadPosRankSum=-0.967;SOR=0.223	GT:AD:DP:GQ:PL	0/1:1,2:3:36:81,0,36	13	0	1	5
chr16	46689713	46689713	C	T	exonic	ORC6	.	nonsynonymous SNV	ORC6:NM_014321:exon1:c.C8T:p.S3L	Meier-Gorlin syndrome 3, Autosomal recessive	0	1513	9	0	0	9	0.0029654	.	.	.	1503553	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.036	0.0472523528206	.	.	.	.	.	.	.	.	.	.	.	.	.	rs767096909	6.901e-07	2.736e-06	1.371e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.673e-05	0	6.574e-06	6.568e-06	1.285e-05	0	2.415e-05	0	0	.	.	2.415e-05	0	0	0	0	0	0	0	0	0	0.102	0.46513	T	0.185	0.41074	T	0.004	0.12183	B	0.001	0.04355	B	0.564146	0.11306	N	0.807991	1	0.08975	N	2.52	0.73523	M	-0.12	0.64630	T	-0.97	0.25986	N	0.288	0.32921	-0.9491	0.41126	T	0.179	0.52536	T	10	0.10052675	0.18311	T	0.047252	0.62838	D	0.036	0.09122	0.273	0.22369	0.678036545427	0.67530	0.3146030142646159	0.31373	0.0765249257685	0.08586	0.443620026112	0.31071	T	0.037913	0.24652	T	-0.181808	0.23467	T	-0.498931	0.22459	T	0.123152685045755	0.14735	T	0.668933	0.27772	T	0.09400845	0.22094	0.16870716	0.38851	0.09400845	0.22093	0.16870716	0.38850	-3.566	0.17367	T	.	.	0.158	0.34992	B	.;.	.;.	2.359085	0.30252	18.38	0.85956578484072244	0.16220	0.10496	0.15987	N	ALL	0.078037	0.15734	N	-0.724574245447729	0.15332	0.7717735	-0.740431293599564	0.15957	0.8418476	0.999999999999926	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.97	2.82	0.32061	0.386000	0.20429	1.665000	0.27922	0.599000	0.40250	0.000000	0.06391	0.008000	0.19753	0.040000	0.14268	0.0:0.6726:0.1586:0.1688	5.805	0.17698	294	0.88270	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000510	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	651.33	41	chr16	46689713	.	C	T	651.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.23;DP=784;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.46;ReadPosRankSum=-0.465;SOR=0.741	GT:AD:DP:GQ:PL	0/1:47,30:77:99:665,0,1048	18	0	1	0
chr16	51138945	51138945	C	T	exonic	SALL1	.	nonsynonymous SNV	SALL1:NM_001127892:exon2:c.G2986A:p.V996M,SALL1:NM_002968:exon2:c.G3277A:p.V1093M	Townes-Brocks branchiootorenal-like syndrome, Autosomal dominant;Townes-Brocks syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	341753	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.060	0.00407793463349	7.7e-05	.	3.295e-05	0	0	0	0	5.994e-05	0	0	2.59e-05	4	154602	rs371314603	1.505e-05	1.505e-05	1.225e-05	1.788e-05	2.319e-05	9.85e-06	8.41e-06	1.093e-05	8.81e-06	0	0	0	0	0	0	1.709e-05	1.656e-05	2.319e-05	3.288e-05	3.284e-05	3.856e-05	2.692e-05	7.351e-05	1.262e-05	7.98e-06	2.847e-05	1.858e-05	0	0	0	0	0	0	0	7.351e-05	0	0	0.202	0.20230	T	0.16	0.31427	T	0.024	0.19075	B	0.003	0.08700	B	0.000066	0.52346	N	0.170743	0.972697	0.81001	D	0.68	0.16426	N	3.29	0.06681	T	-0.24	0.11366	N	0.125	0.11769	-0.9647	0.38270	T	0.013	0.05033	T	10	0.09496206	0.16924	T	0.004078	0.09744	T	0.060	0.17295	.	.	0.134007934775	0.12933	0.18601910598829854	0.18519	0.205584551074	0.22979	0.490897148848	0.37562	T	0.303743	0.67607	T	-0.370572	0.03565	T	-0.589781	0.13685	T	0.120452515780926	0.14474	T	0.854315	0.54093	D	0.07107485	0.15706	0.07126497	0.15241	0.07107485	0.15706	0.07126497	0.15241	-5.209	0.39054	T	.	.	0.069	0.10449	B	.;.;.	.;.;.	2.265395	0.28947	17.97	0.97680665193603056	0.35311	0.67519	0.33462	D	AEFDBHCIJ	0.276321	0.39108	N	-0.32320981386204	0.28268	1.557816	-0.113359135915117	0.34850	2.009407	0.595342394223753	0.21681	0.67177	0.52595	0	0.547309	0.14657	0	0.702456	0.68683	0	0.613276	0.41899	0	.	.	5.42	4.46	0.53567	1.227000	0.32179	0.105000	0.14702	0.587000	0.30956	0.993000	0.37899	0.002000	0.18203	0.998000	0.85391	0.0:0.8513:0.0:0.1487	10.634	0.44743	891	0.26808	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	2120.33	34	chr16	51138945	.	C	T	2120.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.91;DP=1345;ExcessHet=0;FS=3.6;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.77;ReadPosRankSum=0.579;SOR=0.456	GT:AD:DP:GQ:PL	0/1:86,80:166:99:2134,0,2211	18	0	1	0
chr16	51142092	51142092	C	T	exonic	SALL1	.	nonsynonymous SNV	SALL1:NM_002968:exon2:c.G130A:p.V44I	Townes-Brocks branchiootorenal-like syndrome, Autosomal dominant;Townes-Brocks syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	226089	not_provided|Townes-Brocks_syndrome_1	MedGen:C3661900|MONDO:MONDO:0054581,MedGen:C4551481,OMIM:107480,Orphanet:857	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.192	0.0173255894176	7.7e-05	.	2.499e-05	0	0	0.0001	0	3.035e-05	0	0	1.94e-05	3	154602	rs373744120	1.574e-05	1.642e-05	1.634e-05	1.513e-05	8.944e-05	1.048e-05	8.75e-06	2.985e-05	1.804e-05	0	8.944e-05	0	0	1.88e-05	0	1.529e-05	0	1.159e-05	1.315e-05	1.314e-05	1.286e-05	1.346e-05	6.555e-05	2.19e-06	8.2e-07	.	.	0	0	6.555e-05	0	0	0	0	1.47e-05	0	0	0.468	0.08534	T	0.516	0.10607	T	0.999	0.77913	D	0.979	0.74454	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.445	0.36358	L	1.28	0.35960	T	-0.38	0.13418	N	0.243	0.27435	-0.9300	0.44139	T	0.148	0.47380	T	10	0.40189818	0.55626	T	0.017326	0.38985	T	0.192	0.47115	.	.	0.322284741503	0.31843	0.06688135617588067	0.06626	0.699425841073	0.61035	0.762367069721	0.76282	T	0.213686	0.57507	T	-0.213755	0.18853	T	-0.347849	0.39450	T	0.51110285820997	0.33038	D	0.723028	0.33655	T	0.13279718	0.30911	0.118906334	0.28702	0.13279718	0.30910	0.118906334	0.28701	-5.758	0.44207	T	0.3026699140180324	0.40011	0.064	0.01738	B	.	.	3.196799	0.43459	21.7	0.99816269108632283	0.89973	0.98823	0.87323	D	AEFBI	0.724296	0.67364	D	0.552022165281105	0.70205	5.467481	0.595404584917046	0.74609	6.166379	0.999999999999926	0.74766	0.67177	0.52595	0	0.547309	0.14657	0	0.702456	0.68683	0	0.542086	0.14980	0	.	.	5.47	5.47	0.80345	5.059000	0.64135	2.693000	0.34103	0.596000	0.33519	1.000000	0.71638	0.993000	0.31925	0.998000	0.85391	0.0:1.0:0.0:0.0	19.326	0.94250	902	0.24074	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	614.33	42	chr16	51142092	.	C	T	614.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.05;DP=751;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.8;ReadPosRankSum=1.85;SOR=0.56	GT:AD:DP:GQ:PL	0/1:26,22:48:99:628,0,587	18	0	1	0
chr16	58280591	58280591	G	C	exonic	PRSS54	.	nonsynonymous SNV	PRSS54:NM_001305174:exon6:c.C524G:p.P175R,PRSS54:NM_001080492:exon7:c.C821G:p.P274R,PRSS54:NM_001305173:exon7:c.C821G:p.P274R	.	.	.	.	.	.	.	.	.	.	.	3379370	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.293	0.123268698251	.	.	1.648e-05	0	0	0	0	2.997e-05	0	0	1.29e-05	2	154602	rs771527375	2.736e-06	2.736e-06	2.722e-06	2.75e-06	1.159e-05	6.4e-07	4.3e-07	3e-07	1.1e-07	0	0	0	0	1.872e-05	0	1.799e-06	0	1.159e-05	6.574e-06	6.567e-06	0	1.346e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.01	0.56456	D	0.022	0.57587	D	0.974	0.57829	D	0.621	0.51426	P	0.528048	0.05241	N	1.252590	1	0.08975	N	1.495	0.37439	L	-2.52	0.89363	D	-4.81	0.80767	D	0.169	0.26233	-0.3884	0.72392	T	0.572	0.84508	D	10	0.27265018	0.44810	T	0.123269	0.80440	D	0.293	0.61272	0.334	0.32167	0.722556352178	0.72010	0.6431263960902601	0.64247	0.536488904046	0.50979	0.250114262104	0.03780	T	0.081612	0.36639	T	-0.00998901	0.50267	T	-0.236639	0.51126	T	0.404587899775714	0.29115	T	0.433057	0.11799	T	0.06717892	0.14523	0.117902815	0.28461	0.06717892	0.14523	0.117902815	0.28460	-3.436	0.15545	T	.	.	0.078	0.22208	B	.;.;.;.	.;.;.;.	1.786247	0.22706	15.73	0.99258523870361348	0.57121	0.09750	0.15435	N	AEFDGBCIJ	0.070558	0.14012	N	-0.371215685635222	0.26500	1.446729	-0.512406999847911	0.21816	1.181981	0.999989859277836	0.51787	0.653281	0.48532	0	0.588015	0.36545	0	0.675528	0.61593	0	0.586402	0.36253	0	.	.	5.95	1.52	0.22158	0.069000	0.14419	1.045000	0.23589	0.676000	0.76740	0.000000	0.06391	0.001000	0.17328	0.086000	0.17578	0.1568:0.1391:0.5605:0.1436	3.015	0.05688	769	0.49307	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1456.33	131	chr16	58280591	.	G	C	1456.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.779;DP=843;ExcessHet=0;FS=0.694;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.45;ReadPosRankSum=-0.349;SOR=0.813	GT:AD:DP:GQ:PL	0/1:60,57:117:99:1470,0,1787	18	0	1	0
chr16	75223547	75223547	G	A	exonic	CTRB1	.	nonsynonymous SNV	CTRB1:NM_001329190:exon5:c.G415A:p.V139M,CTRB1:NM_001906:exon5:c.G415A:p.V139M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.602	0.118880216692	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs760194841	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	0.0002	0.0002	0	0.0002	0	3.218e-05	0	0	0.0002	0.0002	0.0002	0.0002	9.79e-05	0.0001	0.0002	0.0006	8.376e-05	6.495e-05	9.866e-05	7.025e-05	4.56e-05	0	0	0	0	0	0	0.0002	0.0024	0.0006	0.049	0.39820	D	0.06	0.51737	T	0.998	0.73220	D	0.789	0.57669	P	0.000003	0.62929	U	0.000000	0.999997	0.58761	D	.	.	.	-3.35	0.94022	D	-2.25	0.50337	N	0.203	0.22486	0.615	0.92097	D	0.851	0.95028	D	10	0.45356888	0.58850	T	0.11888	0.79904	D	0.602	0.84291	.	.	0.661158103666	0.65831	0.802916900648018	0.80245	3.01023712014	0.99228	0.585914552212	0.50919	T	0.509993	0.82657	D	0.116786	0.66048	D	-0.0700214	0.65625	T	0.348098188638687	0.26944	T	0.808619	0.56255	T	0.3773615	0.59125	0.34970495	0.60591	0.3773615	0.59125	0.34970495	0.60590	-11.347	0.81527	D	.	.	0.724	0.76050	P	.;.	.;.	2.675188	0.34885	19.75	0.88929914248130393	0.18371	0.76210	0.37360	D	AEFGI	0.154320	0.27932	N	0.125377714849411	0.47648	2.98767	-0.097319716779103	0.35501	2.054631	0.430088772927642	0.20364	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	4.58	0.234	0.14661	1.356000	0.33683	0.866000	0.22272	0.656000	0.54149	0.963000	0.33788	0.286000	0.24137	0.773000	0.36634	0.3505:0.0:0.5088:0.1407	5.067	0.13925	846	0.36215	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	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	261.33	24	chr16	75223547	.	G	A	261.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.28;DP=480;ExcessHet=0;FS=0;InbreedingCoeff=-0.0271;MLEAC=1;MLEAF=0.026;MQ=27;MQRankSum=0;QD=18.67;ReadPosRankSum=0.212;SOR=1.765	GT:AD:DP:GQ:PL	0/1:4,10:14:80:275,0,80	18	0	1	0
chr16	75224755	75224755	G	C	exonic	CTRB1	.	nonsynonymous SNV	CTRB1:NM_001329190:exon6:c.G547C:p.G183R	.	410	1096	16	0	0	16	0.00724638	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.000599042	0.0008	0	0.0004	0	0	0.0009	0.0033	0.0015	0.0006662	103	154602	rs143327059	0.0006	0.0006	0.0005	0.0007	0.0168	0.0006	0.0005	0.0141	0.0131	5.975e-05	0.0009	0.0002	0	0	0.0168	0.0005	0.0011	0.0016	0.0006	0.0006	0.0006	0.0006	0.0020	0.0005	0.0005	0.0014	0.0012	0	0	0.0020	0	0	0	0.0102	0.0006	0.0028	0.0019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.005435	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	915.33	33	chr16	75224755	.	G	C	915.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.034;DP=724;ExcessHet=0;FS=3.029;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.9;ReadPosRankSum=0.374;SOR=0.387	GT:AD:DP:GQ:PL	0/1:47,37:84:99:929,0,1276	18	0	1	0
chr16	80684984	80684984	C	A	exonic	CDYL2	.	nonsynonymous SNV	CDYL2:NM_152342:exon2:c.G170T:p.G57V	.	420	1056	45	1	0	47	0.0217693	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.170	.	0.0034	0.00319489	0.0052	0.0007	0.0037	0.0001	0.0005	0.0047	0.0055	0.0156	0.0047477	734	154602	rs148308758	0.0046	0.0046	0.0042	0.0051	0.0165	0.0045	0.0045	0.0149	0.0146	0.0005	0.0048	0.0114	0	0.0003	0.0165	0.0040	0.0060	0.0156	0.0034	0.0035	0.0034	0.0034	0.0098	0.0032	0.0031	0.0076	0.0068	0.0009	0	0.0073	0.0124	0.0002	0.0006	0.0034	0.0039	0.0061	0.0098	0.084	0.32929	T	0.186	0.28860	T	0.464	0.36423	P	0.471	0.46788	P	0.000001	0.84330	D	0.057409	1	0.81001	D	0.69	0.16971	N	1.0	0.41392	T	-1.52	0.36980	N	0.519	0.55626	-0.9628	0.38645	T	0.079	0.31435	T	10	0.00868392	0.00197	T	.	.	.	.	.	.	.	0.221890330934	0.21812	0.33187914881676656	0.33100	0.703137444835	0.61250	0.513815522194	0.40756	T	0.307381	0.67953	T	-0.319419	0.06945	T	-0.218626	0.52870	T	0.0222606018164842	0.00939	T	0.888211	0.64041	D	0.6573661	0.75758	0.38849276	0.63692	0.6573661	0.75759	0.38849276	0.63692	-3.818	0.21074	T	.	.	0.144	0.59205	B	.;.;.;.	.;.;.;.	3.807021	0.54888	23.5	0.99603623835571997	0.74338	0.98610	0.84669	D	AEFDGBI	0.813955	0.73630	D	0.248507690084439	0.53564	3.524829	0.375001167766425	0.60028	4.186012	0.999988208958161	0.51787	0.706298	0.61202	0	0.709663	0.81188	0	0.618467	0.43123	0	0.714379	0.83352	0	.	.	5.08	5.08	0.68373	4.741000	0.61790	7.357000	0.58325	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.872000	0.41544	0.0:1.0:0.0:0.0	17.649	0.88060	952	0.10565	Chromo/chromo shadow domain|Chromo/chromo shadow domain;Chromo/chromo shadow domain|Chromo/chromo shadow domain;Chromo/chromo shadow domain|Chromo/chromo shadow domain;Chromo/chromo shadow domain|Chromo/chromo shadow 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	0.016616	0.015152	0.016304	0.008772	0.000000	0.008621	0.012195	0.037879	0.05263	4360.83	45	chr16	80684984	.	C	A	4360.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.251;DP=1152;ExcessHet=0.119;FS=0.37;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.15;ReadPosRankSum=0.385;SOR=0.669	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:108,91:199:99:1|0:80684982_A_G:2258,0,4215:80684982	17	0	2	0
chr16	81908423	81908423	C	G	exonic	PLCG2	.	nonsynonymous SNV	PLCG2:NM_002661:exon17:c.C1565G:p.P522R	Autoinflammation, antibody deficiency, and immune dysregulation syndrome, Autosomal dominant;Familial cold autoinflammatory syndrome 3, Autosomal dominant	0	1518	4	0	0	4	0.00131579	.	.	.	433825	Familial_cold_autoinflammatory_syndrome_3|not_provided|PLCG2-related_disorder	MONDO:MONDO:0013766,MedGen:C3280914,OMIM:614468,Orphanet:300359|MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.085	.	0.0063	0.00279553	0.0051	0.0011	0.0026	0	0.0014	0.0082	0	0.0007	0.0052845	817	154602	rs72824905	0.0069	0.0069	0.0071	0.0068	0.0083	0.0068	0.0068	0.0081	0.0081	0.0010	0.0040	0.0083	0	0.0015	0.0069	0.0083	0.0056	0.0006	0.0049	0.0049	0.0055	0.0044	0.0088	0.0046	0.0045	0.0082	0.0080	0.0013	0.0088	0.0026	0.0075	0	0.0010	0.0034	0.0088	0.0052	0.0006	0.146	0.25055	T	0.523	0.11371	T	0.0	0.02946	B	0.0	0.01387	B	0.427117	0.12796	N	0.750593	1	0.08975	N	0.405	0.12330	N	-0.15	0.65192	T	-1.59	0.38345	N	0.203	0.22486	-1.0124	0.26165	T	0.096	0.36159	T	10	0.0038388371	0.00072	T	.	.	.	0.085	0.24743	.	.	0.408543089712	0.40467	0.6574157309776638	0.65678	0.28713633429	0.31114	0.338021397591	0.16141	T	0.429424	0.77823	T	-0.497736	0.00589	T	-0.477352	0.24729	T	0.00844256311956172	0.00102	T	0.633137	0.24745	T	0.050190467	0.09028	0.059170898	0.11058	0.03790937	0.04951	0.06722979	0.13879	-7.836	0.59947	D	.	.	0.096	0.15296	B	.;.	.;.	1.765036	0.22449	15.62	0.9155803414720719	0.20837	0.43099	0.27023	N	AEFBCI	0.272659	0.38824	N	-0.449215264707365	0.23767	1.278613	-0.324653953905833	0.27304	1.514177	0.999916049523709	0.45857	0.67177	0.52595	0	0.702456	0.74545	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	4.85	4.85	0.62375	2.557000	0.45533	7.569000	0.60664	-0.180000	0.10397	0.013000	0.18845	0.996000	0.32793	0.007000	0.07825	0.2379:0.7621:0.0:0.0	11.090	0.47333	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	0	0	0	0	0	1	0	0.001511	0.000000	0.000000	0.002924	0.000000	0.000000	0.006098	0.003788	0.02632	1950.33	35	chr16	81908423	.	C	G	1950.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.748;DP=863;ExcessHet=0;FS=1.089;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.07;ReadPosRankSum=0.182;SOR=0.78	GT:AD:DP:GQ:PL	0/1:123,92:215:99:1964,0,3111	18	0	1	0
chr16	84195687	84195687	C	T	exonic	ADAD2	.	nonsynonymous SNV	ADAD2:NM_001145400:exon6:c.C1042T:p.R348C,ADAD2:NM_139174:exon7:c.C1288T:p.R430C	.	429	1091	1	1	0	3	0.001373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.313	0.360156912099	0.0002	0.00119808	0.0005	0.0001	8.946e-05	0.0005	0	0.0001	0	0.0043	0.0005175	80	154602	rs143488002	0.0003	0.0003	0.0002	0.0004	0.0042	0.0003	0.0002	0.0038	0.0036	0	5.775e-05	0	0.0002	0	0.0007	2.76e-05	0.0004	0.0042	0.0002	0.0003	0.0001	0.0003	0.0032	0.0002	0.0001	0.0020	0.0016	0	0.0154	0.0001	0	0	0	0	4.431e-05	0	0.0032	0.003	0.72154	D	0.012	0.65728	D	0.998	0.73220	D	0.72	0.56031	P	0.094430	0.20173	N	0.537033	0.609878	0.32612	D	1.025	0.25523	L	-3.34	0.93975	D	-3.4	0.67014	D	0.25	0.35194	0.538	0.91066	D	0.712	0.90104	D	10	0.018812686	0.00413	T	0.360157	0.92491	D	0.313	0.63482	.	.	0.846923125851	0.84545	0.3228646709701884	0.32199	.	.	0.265237063169	0.05531	T	0.377916	0.74100	T	-0.309362	0.07805	T	-0.217673	0.52961	T	0.0728038695480646	0.09039	T	0.769523	0.39899	T	0.20487984	0.42612	0.14862515	0.35125	0.20487984	0.42612	0.14862515	0.35124	-4.676	0.35305	T	.	.	0.096	0.15520	B	.;.	.;.	3.367528	0.46524	22.3	0.99854799971853647	0.93368	0.03050	0.07947	N	AEFDBI	0.172968	0.30002	N	-0.165440070727997	0.34580	1.975509	-0.292037365337644	0.28360	1.580708	0.999653256803242	0.41424	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	5.22	3.13	0.35090	0.038000	0.13749	2.112000	0.30666	0.594000	0.32500	0.000000	0.06391	0.009000	0.19889	0.509000	0.29221	0.0:0.7271:0.1777:0.0951	6.808	0.22972	754	0.51307	.;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	.	.	.	.	.	.	.	.	0.02632	1239.33	62	chr16	84195687	.	C	T	1239.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.63;DP=921;ExcessHet=0;FS=0.69;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.41;ReadPosRankSum=-0.829;SOR=0.616	GT:AD:DP:GQ:PL	0/1:69,50:119:99:1253,0,1699	18	0	1	0
chr16	87604288	87604308	CTGCTGCTGCTGCTGCTGCTG	-	exonic	JPH3	.	nonframeshift deletion	JPH3:NM_001271604:exon2:c.431_451del:p.A151_A157del	Huntington disease-like 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1451154188	0.0004	0.0004	0.0004	0.0004	0.0004	0.0003	0.0003	0.0002	0.0002	0.0001	9.262e-05	0.0085	0	0.0003	0.0004	0.0002	0.0007	0.0002	0.0007	0.0007	0.0007	0.0007	0.0011	0.0006	0.0005	0.0004	0.0003	0.0002	0	0.0001	0.0145	0.0002	0.0004	0	0.0004	0.0010	0.0011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	29025.2	105	chr16	87604287	.	CCTGCTGCTGCTGCTGCTGCTG	C	29025.2	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.607;DP=2417;ExcessHet=3.6106;FS=0.535;InbreedingCoeff=-0.1709;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=22.5;ReadPosRankSum=0.647;SOR=0.722	GT:AD:DP:GQ:PL	0/1:0,51:89:99:3604,1560,2296	18	0	1	0
chr16	88723932	88723932	C	T	exonic	PIEZO1	.	nonsynonymous SNV	PIEZO1:NM_001142864:exon31:c.G4274A:p.S1425N	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, Autosomal dominant;Lymphedema, hereditary, III, Autosomal recessive	417	1098	7	0	0	7	0.00317749	.	.	.	982039	Dehydrated_hereditary_stomatocytosis_with_or_without_pseudohyperkalemia_and/or_perinatal_edema|Blood_group,_ER|Lymphatic_malformation_6|PIEZO1-related_disorder|not_provided	MONDO:MONDO:0008689,MedGen:C4551512,OMIM:194380,Orphanet:3202|MedGen:C5703066,OMIM:620207|MONDO:MONDO:0014797,MedGen:C4225184,OMIM:616843,Orphanet:568062|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.134	0.521898163511	.	.	0.0011	0	0.0024	0	0	0.0004	0	0.0022	0.0001552	24	154602	rs772788410	0.0004	0.0004	0.0003	0.0004	0.0032	0.0003	0.0003	0.0023	0.0022	6.332e-05	8.403e-05	0.0011	0	2.081e-05	0.0032	0.0002	0.0005	0.0026	0.0002	0.0002	0.0002	0.0002	0.0017	0.0001	0.0001	0.0008	0.0006	7.213e-05	0	6.532e-05	0.0012	0	0	0.0034	0.0001	0.0014	0.0017	0.144	0.25255	T	0.08	0.41913	T	1.0	0.90584	D	0.997	0.86255	D	0.000082	0.51296	D	0.194121	0.999806	0.49283	D	3.1	0.87590	M	-0.93	0.75215	T	-2.21	0.49684	N	0.466	0.50237	-0.3703	0.72952	T	0.379	0.73587	T	10	0.052884102	0.05393	T	0.521898	0.95459	D	0.260	0.57221	0.216	0.13643	0.285775778912	0.28195	0.37909203879146175	0.37824	.	.	0.831357896328	0.86770	D	0.312511	0.68433	T	-0.401489	0.02264	T	-0.354725	0.38663	T	0.159493900370773	0.17834	T	0.861414	0.55526	D	0.18746126	0.40201	0.17324612	0.39637	0.18746126	0.40201	0.17324612	0.39636	-11.988	0.84793	D	0.6523361768315288	0.72467	0.710	0.73380	P	.	.	4.337266	0.66507	25.0	0.99669483997941732	0.78458	0.97253	0.73599	D	AEFBI	0.694129	0.65323	D	0.287204185475833	0.55499	3.713965	0.302764658637187	0.55701	3.733018	0.999999996637528	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	5.21	5.21	0.72005	4.545000	0.60408	7.495000	0.59416	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.187000	0.21511	0.0:1.0:0.0:0.0	17.878	0.88744	873	0.30802	Piezo domain	.	.	.	.	.	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	0.003663	0.000000	0.000000	0.004065	0.000000	0.000000	0.009804	0.008333	0.02632	1516.33	33	chr16	88723932	.	C	T	1516.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.095;DP=782;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.32;ReadPosRankSum=-1.609;SOR=0.723	GT:AD:DP:GQ:PL	0/1:82,65:147:99:1530,0,2040	18	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	.	.	.	.	.	.	.	.	0.1333	577.64	76	chr16	89284161	.	A	G	577.64	.	AC=4;AF=0.133;AN=30;BaseQRankSum=-2.147;DP=2246;ExcessHet=0.7564;FS=117.529;InbreedingCoeff=-0.2077;MLEAC=5;MLEAF=0.167;MQ=59.99;MQRankSum=0;QD=1.12;ReadPosRankSum=1.15;SOR=8.675	GT:AD:DP:GQ:PL	0/1:91,32:123:99:312,0,1983	11	0	4	4
chr17	156332	156332	G	C	exonic	DOC2B	.	nonsynonymous SNV	DOC2B:NM_003585:exon6:c.C811G:p.L271V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	0.0378923722275	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.148e-06	0.0004	1.413e-06	2.903e-06	2.786e-06	5.7e-07	1.6e-07	7.4e-07	2.1e-07	0	0	0	0	0	0	2.786e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.42261	T	.	.	.	.	.	.	0.016885	0.27861	U	0.144333	.	.	.	.	.	.	.	.	.	.	.	.	0.565	0.58883	-1.0508	0.14175	T	0.036	0.15553	T	8	0.41820872	0.56686	T	0.037892	0.57897	D	.	.	0.433	0.48336	0.69386598177	0.69122	0.2464546265208696	0.24559	.	.	0.655192315578	0.60723	T	0.43463	0.78165	T	-0.00325567	0.51206	T	-0.242453	0.50560	T	0.965245604515076	0.67207	D	0.975502	0.91380	D	0.11247217	0.26571	0.15176901	0.35736	0.11247217	0.26570	0.15176901	0.35735	-11.711	0.83415	D	.	.	0.699	0.72922	P	.	.	4.235216	0.64170	24.7	0.99684477266506732	0.79507	0.95032	0.63190	D	AEFBI	0.580176	0.58069	D	0.101782836407216	0.46544	2.89328	0.216068348477589	0.50737	3.262763	0.129656205550344	0.17064	0.646311	0.45356	0	0.610034	0.51514	0	0.645312	0.48771	0	0.567892	0.33627	0	.	.	4.8	4.8	0.61157	4.133000	0.57743	11.780000	0.96086	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	17.011	0.86281	970	0.06235	Synaptotagmin	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	92.33	161	chr17	156332	.	G	C	92.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-5.927;DP=2303;ExcessHet=0;FS=155.735;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.5;ReadPosRankSum=3.41;SOR=7.378	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:146,39:185:99:0|1:156332_G_C:106,0,4638:156332	18	0	1	0
chr17	156333	156333	G	C	exonic	DOC2B	.	nonsynonymous SNV	DOC2B:NM_003585:exon6:c.C810G:p.I270M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.211	0.0243833631603	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.47e-05	0.0013	4.283e-05	2.636e-05	4.414e-05	2.688e-05	2.376e-05	3.401e-05	3.048e-05	3.24e-05	0	0	0	0	0	4.414e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.83351	D	.	.	.	.	.	.	0.000363	0.45194	U	0.000000	.	.	.	.	.	.	.	.	.	.	.	.	0.857	0.85343	-0.9649	0.38230	T	0.066	0.27225	T	8	0.7782781	0.77640	D	0.024383	0.47367	T	.	.	0.514	0.61307	0.624040304256	0.62098	0.45879918562508915	0.45797	.	.	0.767160356045	0.76999	T	0.455535	0.79466	T	0.119586	0.66331	D	-0.0659996	0.65911	T	0.989134252071381	0.79391	D	0.970503	0.89388	D	0.11444683	0.27019	0.14802454	0.35007	0.11444683	0.27018	0.14802454	0.35006	-11.209	0.80792	D	.	.	0.700	0.72967	P	.	.	4.462484	0.69472	25.4	0.99672891597423119	0.78717	0.94717	0.62088	D	AEFBI	0.578911	0.57992	D	0.364701277752433	0.59520	4.132104	0.318431218750278	0.56623	3.825885	0.00425284723597491	0.10476	0.646311	0.45356	0	0.610034	0.51514	0	0.645312	0.48771	0	0.567892	0.33627	0	.	.	4.8	2.8	0.31881	3.331000	0.51790	3.491000	0.38715	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.1553:0.0:0.8447:0.0	10.594	0.44517	970	0.06235	Synaptotagmin	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	92.33	161	chr17	156333	.	G	C	92.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-5.944;DP=2378;ExcessHet=0;FS=155.735;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.5;ReadPosRankSum=3.5;SOR=7.378	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:146,39:185:99:0|1:156332_G_C:106,0,4638:156332	18	0	1	0
chr17	413815	413815	C	0	exonic	C17orf97	.	.	.	.	492	947	19	0	64	83	0.00993204	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08824	3645.09	35	chr17	413815	.	C	*	3645.09	.	AC=3;AF=0.088;AN=34;BaseQRankSum=-1.819;DP=806;ExcessHet=2.0973;FS=0.825;InbreedingCoeff=-0.1014;MLEAC=3;MLEAF=0.088;MQ=51.13;MQRankSum=-3.114;QD=9.99;ReadPosRankSum=-0.989;SOR=0.635	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:35,24:59:99:.:.:606,0,1330:.	14	0	3	2
chr17	413822	413822	C	0	exonic	C17orf97	.	.	.	.	509	931	17	0	65	82	0.00904737	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08824	3979.26	37	chr17	413822	.	C	*	3979.26	.	AC=3;AF=0.088;AN=34;BaseQRankSum=-0.523;DP=846;ExcessHet=5.777;FS=0.384;InbreedingCoeff=-0.2941;MLEAC=3;MLEAF=0.088;MQ=50.36;MQRankSum=-3.06;QD=10.42;ReadPosRankSum=-1.422;SOR=0.732	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:35,24:59:99:.:.:606,0,1330:.	14	0	3	2
chr17	413824	413824	C	0	exonic	C17orf97	.	.	.	.	487	954	61	4	16	85	0.0349014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08824	3875.26	35	chr17	413824	.	C	*	3875.26	.	AC=3;AF=0.088;AN=34;BaseQRankSum=0.335;DP=838;ExcessHet=5.777;FS=0;InbreedingCoeff=-0.2941;MLEAC=3;MLEAF=0.088;MQ=49.98;MQRankSum=-2.422;QD=10.01;ReadPosRankSum=-1.376;SOR=0.677	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:35,24:59:99:.:.:606,0,1330:.	14	0	3	2
chr17	413831	413831	A	0	exonic	C17orf97	.	.	.	.	725	697	61	4	35	104	0.0471634	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	3502.03	35	chr17	413831	.	A	*	3502.03	.	AC=3;AF=0.1;AN=30;BaseQRankSum=-0.862;DP=878;ExcessHet=5.0413;FS=1.291;InbreedingCoeff=-0.1846;MLEAC=4;MLEAF=0.133;MQ=49.37;MQRankSum=-2.859;QD=9.73;ReadPosRankSum=-2.316;SOR=0.622	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:35,24:59:99:.:.:606,0,1330:.	12	0	3	4
chr17	1936785	1936785	C	T	exonic	RTN4RL1	.	nonsynonymous SNV	RTN4RL1:NM_178568:exon2:c.G1037A:p.R346Q	.	426	1075	20	1	0	22	0.0101289	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.144	.	0.0022	0.00279553	0.0033	0.0005	0.0023	0.0001	0	0.0031	0.0151	0.0111	0.0028913	447	154602	rs143202933	0.0032	0.0032	0.0029	0.0034	0.0093	0.0031	0.0031	0.0087	0.0085	0.0005	0.0033	0.0039	0.0001	0.0001	0.0057	0.0030	0.0035	0.0093	0.0025	0.0025	0.0028	0.0022	0.0062	0.0023	0.0022	0.0045	0.0039	0.0006	0	0.0044	0.0037	0	9.423e-05	0.0034	0.0034	0.0038	0.0062	0.327	0.13262	T	0.608	0.07741	T	0.993	0.65571	D	0.719	0.54822	P	0.004666	0.33505	N	0.000000	0.996779	0.43409	D	1.735	0.44892	L	0.06	0.61798	T	-0.82	0.22508	N	0.18	0.19459	-0.7231	0.59309	T	0.209	0.56866	T	10	0.008575648	0.00194	T	.	.	.	0.144	0.38394	.	.	0.358048530964	0.35414	0.2416630363924649	0.24080	0.514350319551	0.49387	0.323364496231	0.13930	T	0.030742	0.21720	T	-0.434647	0.01391	T	-0.389298	0.34632	T	0.0169827822847947	0.00448	T	0.751525	0.37371	T	0.10369869	0.24510	0.07991579	0.18032	0.10369869	0.24510	0.07991579	0.18032	-4.756	0.34074	T	.	.	0.081	0.08417	B	.	.	2.942220	0.39120	20.9	0.96045160123939999	0.28547	0.95370	0.64455	D	AEFDBI	0.669398	0.63684	D	0.109229442117968	0.46892	2.92279	0.0465053014446424	0.41904	2.525323	0.997387910549224	0.35561	0.517182	0.21443	0	0.573888	0.26702	0	0.478664	0.07449	1	0.613276	0.41899	0	.	.	4.17	4.17	0.48303	1.786000	0.38326	1.647000	0.27824	0.599000	0.40250	0.968000	0.34134	0.996000	0.32793	0.010000	0.09038	0.0:1.0:0.0:0.0	16.519	0.84155	625	0.65529	.	.	.	.	.	.	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	0.003528	0.000000	0.002725	0.002924	0.050000	0.000000	0.000000	0.011364	0.02632	1007.33	33	chr17	1936785	.	C	T	1007.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.035;DP=789;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.5;ReadPosRankSum=1.04;SOR=0.652	GT:AD:DP:GQ:PL	0/1:59,47:106:99:1021,0,1406	18	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6944	5800.48	202	chr17	4933907	.	ACCACCCCAGAGCCCAC	*	5800.48	.	AC=25;AF=0.694;AN=36;DP=3235;ExcessHet=0.004;FS=0;InbreedingCoeff=0.5476;MLEAC=26;MLEAF=0.722;MQ=59.7;MQRankSum=-0.138;QD=3.33;SOR=0.877	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,124:124:99:.:.:4476,398,0:.	3	10	5	1
chr17	4933915	4933915	A	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	1045	137	36	84	220	424	0.426778	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7941	2221.85	202	chr17	4933915	.	A	*	2221.85	.	AC=27;AF=0.794;AN=34;BaseQRankSum=1.15;DP=3213;ExcessHet=0.1688;FS=0;InbreedingCoeff=0.103;MLEAC=29;MLEAF=0.853;MQ=59.38;MQRankSum=-0.322;QD=1.2;ReadPosRankSum=2.42;SOR=0.937	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,124:124:99:.:.:4476,398,0:.	1	11	5	2
chr17	6707135	6707135	T	C	exonic	SLC13A5	.	nonsynonymous SNV	SLC13A5:NM_001143838:exon2:c.A124G:p.I42V,SLC13A5:NM_001284509:exon2:c.A124G:p.I42V,SLC13A5:NM_177550:exon2:c.A124G:p.I42V	Epileptic encephalopathy, early infantile, 25, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.134	0.0115125430183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.188	0.21304	T	0.31	0.25210	T	0.329	0.33227	B	0.437	0.45591	B	0.000000	0.84330	N	0.085895	0.998017	0.81001	D	1.19	0.30124	L	4.04	0.03121	T	-0.62	0.18248	N	0.321	0.38848	-0.8519	0.51837	T	0.013	0.04985	T	10	0.15944508	0.29958	T	0.011513	0.29207	T	0.134	0.36365	0.522	0.62518	0.313210971179	0.30940	0.42086618264418346	0.42002	0.2501032942	0.27591	0.424964904785	0.28520	T	0.109445	0.42332	T	-0.169951	0.25242	T	-0.4819	0.24244	T	0.407440274953842	0.29222	T	0.816518	0.47426	T	0.09399844	0.22091	0.11753781	0.28373	0.09399844	0.22091	0.11753781	0.28372	-4.2	0.28414	T	0.18332288541525327	0.23726	0.096	0.31532	B	.;.;.	.;.;.	2.352183	0.30154	18.35	0.94365882124775891	0.24726	0.80044	0.39789	D	AEFDBCI	0.369692	0.45633	N	-0.322972037126395	0.28278	1.558384	-0.194155532616306	0.31751	1.799816	0.215747925061085	0.18295	0.615465	0.37627	0	0.627178	0.54094	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.4	3.15	0.35301	2.593000	0.45845	0.594000	0.19852	-0.123000	0.13640	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0801:0.151:0.769	6.904	0.23478	812	0.42537	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07895	429.79	198	chr17	6707135	.	T	C	429.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-3.724;DP=1321;ExcessHet=0.3672;FS=110.264;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=1.01;ReadPosRankSum=1.84;SOR=9.507	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:129,36:165:99:.:.:193,0,3579:.	16	0	3	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	.	.	.	.	.	.	.	.	0.3	3208.72	145	chr17	6800775	.	C	G	3208.72	.	AC=9;AF=0.3;AN=30;BaseQRankSum=-1.731;DP=2621;ExcessHet=5.3738;FS=198.068;InbreedingCoeff=-0.4074;MLEAC=10;MLEAF=0.333;MQ=60;MQRankSum=0;QD=2.59;ReadPosRankSum=1.15;SOR=12.21	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:120,24:144:60:0|1:6800775_C_G:60,0,3834:6800775	6	0	9	4
chr17	6800776	6800776	C	G	exonic	TEKT1	.	nonsynonymous SNV	TEKT1:NM_053285:exon7:c.G1020C:p.E340D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.326	0.028278372682	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.013	0.63109	D	1.0	0.90584	D	0.999	0.92359	D	0.000002	0.62929	D	0.098481	0.983136	0.42247	D	3.525	0.93020	H	2.96	0.09542	T	-2.88	0.60507	D	0.808	0.80375	-0.9824	0.34445	T	0.107	0.39051	T	10	0.95349437	0.94696	D	0.028278	0.50978	D	0.326	0.64826	0.877	0.96683	0.497481867153	0.49385	0.6113345721572323	0.61065	0.419681481569	0.42513	0.529784560204	0.43004	T	0.202368	0.56052	T	0.124774	0.66848	D	-0.0585471	0.66434	T	0.995554625988007	0.87638	D	0.840516	0.51562	T	0.7195699	0.79137	0.5731973	0.75279	0.7195699	0.79139	0.5731973	0.75280	-8.963	0.67458	D	.	.	0.829	0.78671	P	.	.	3.572194	0.50313	22.9	0.9983085278040047	0.91284	0.84486	0.43568	D	AEFDBHCI	0.220516	0.34526	N	0.55574673951639	0.70432	5.500766	0.423949101341838	0.63059	4.532556	0.999819604160299	0.43459	0.525926	0.21836	0	0.563428	0.19063	0	0.607795	0.38427	0	0.584449	0.35598	0	.	.	5.84	2.8	0.31881	1.605000	0.36426	0.787000	0.21533	0.599000	0.40250	1.000000	0.71638	0.338000	0.24408	0.976000	0.56436	0.0:0.6876:0.0:0.3124	8.074	0.29869	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	.	.	.	.	.	.	.	.	0.1562	914.16	145	chr17	6800776	.	C	G	914.16	.	AC=5;AF=0.156;AN=32;BaseQRankSum=-3.841;DP=2249;ExcessHet=2.0135;FS=154.748;InbreedingCoeff=-0.2489;MLEAC=6;MLEAF=0.188;MQ=60;MQRankSum=0;QD=1.08;ReadPosRankSum=0.72;SOR=10.577	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:120,24:144:60:0|1:6800775_C_G:60,0,3834:6800775	11	0	5	3
chr17	7324137	7324137	G	A	exonic	NEURL4	.	nonsynonymous SNV	NEURL4:NM_001005408:exon11:c.C2033T:p.A678V,NEURL4:NM_032442:exon11:c.C2033T:p.A678V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.563	0.0482443252584	.	.	8.369e-06	0	0	0	0	0	0	6.071e-05	6.5e-06	1	154602	rs767504785	1.916e-05	1.984e-05	2.043e-05	1.789e-05	6.956e-05	1.329e-05	1.144e-05	2.995e-05	2.038e-05	0	2.236e-05	0	2.519e-05	0	0	1.799e-05	0	6.956e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.34095	T	0.115	0.36630	T	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	1.59	0.40313	L	-0.77	0.73523	T	-3.25	0.65283	D	0.803	0.79889	-0.0981	0.80141	T	0.524	0.82240	D	10	0.75030124	0.75588	D	0.048244	0.63287	D	0.563	0.82118	0.561	0.68093	0.337947466952	0.33407	0.6329897992714737	0.63232	1.37279680966	0.84579	0.710451126099	0.68659	T	0.173699	0.52265	T	0.115569	0.65925	D	0.109758	0.77558	D	0.845667064189911	0.49796	D	0.90061	0.65471	D	0.338302	0.56144	0.29920986	0.55954	0.338302	0.56144	0.29920986	0.55953	-10.445	0.76566	D	.	.	0.972	0.92504	P	.;.;.	.;.;.	5.365964	0.89973	31	0.99933081967115067	0.99488	0.98727	0.86082	D	AEFDBCI	0.882642	0.81092	D	0.723991157959819	0.81204	7.467985	0.732819301002863	0.84869	8.414119	0.999999999998768	0.74766	0.712529	0.81865	0	0.779548	0.99637	0	0.635938	0.45252	0	0.691587	0.68394	0	.	.	5.7	5.7	0.88690	6.180000	0.71914	11.743000	0.95236	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:0.0:1.0:0.0	18.619	0.91269	429	0.80881	.;Neuralized homology repeat (NHR) domain|Neuralized homology repeat (NHR) domain;Neuralized homology repeat (NHR) domain|Neuralized homology repeat (NHR) 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	.	.	.	.	.	.	.	.	0.02632	1781.33	42	chr17	7324137	.	G	A	1781.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.367;DP=803;ExcessHet=0;FS=2.324;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.48;ReadPosRankSum=-0.223;SOR=0.504	GT:AD:DP:GQ:PL	0/1:51,72:123:99:1795,0,1149	18	0	1	0
chr17	8174584	8174584	G	C	exonic	TMEM107	.	nonsynonymous SNV	TMEM107:NM_001351278:exon4:c.C307G:p.L103V,TMEM107:NM_001351279:exon4:c.C289G:p.L97V,TMEM107:NM_032354:exon4:c.C307G:p.L103V,TMEM107:NM_183065:exon4:c.C289G:p.L97V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.203	0.0140421232265	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	7.524e-06	2.722e-06	0	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.56456	D	0.022	0.58089	D	0.1	0.73220	B	0.073	0.78936	B	0.047715	0.23319	N	0.382516	1	0.81001	D	2.42	0.70002	M	.	.	.	-1.69	0.43717	N	0.541	0.63459	-0.6637	0.62113	T	0.281	0.65280	T	9	0.3647289	0.53011	T	0.014042	0.33885	T	0.203	0.48915	0.692	0.82938	0.0138822411134	0.00435	0.8337530561023957	0.83334	1.56021622753	0.88027	0.60396283865	0.53463	T	0.050056	0.28486	T	0.174122	0.71501	D	0.012338	0.71133	D	0.854229768616039	0.50534	D	0.905209	0.66592	D	0.1305304	0.30453	0.13564537	0.32471	0.1305304	0.30453	0.13564537	0.32471	-4.093	0.29353	T	0.5639296545248847	0.63149	0.275	0.55788	B	.;.;.	.;.;.	3.724027	0.53232	23.3	0.99695596692605004	0.80248	0.70041	0.34428	D	AEFBHC	0.133706	0.25346	N	0.00100626654297573	0.41900	2.514694	0.0461761497681474	0.41888	2.524	0.998454773613857	0.36996	0.608746	0.35421	0	0.587265	0.34161	0	0.694767	0.63188	0	0.605231	0.38476	0	.	.	5.92	2.34	0.28071	0.677000	0.24942	4.292000	0.42914	0.665000	0.62972	0.996000	0.39380	1.000000	0.68203	0.984000	0.60418	0.18:0.0:0.6634:0.1565	5.934	0.18396	306	0.87689	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	62.45	85	chr17	8174584	.	G	C	62.45	.	AC=2;AF=0.25;AN=8;BaseQRankSum=-1.976;DP=1207;ExcessHet=0.119;FS=169.085;InbreedingCoeff=-0.3331;MLEAC=5;MLEAF=0.625;MQ=60;MQRankSum=0;QD=0.41;ReadPosRankSum=-0.292;SOR=7.053	GT:AD:DP:GQ:PL	0/1:82,14:102:22:22,0,3228	2	0	2	15
chr17	11680739	11680739	G	C	exonic	DNAH9	.	nonsynonymous SNV	DNAH9:NM_001372:exon19:c.G3593C:p.W1198S	.	.	.	.	.	.	.	.	.	.	.	1386856	DNAH9-related_disorder|Ciliary_dyskinesia,_primary,_40|not_provided	.|MONDO:MONDO:0032664,MedGen:C4749028,OMIM:618300|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.603	0.0432503301132	0.0005	0.000798722	0.0006	9.76e-05	0.0017	0	0	0.0007	0	0	0.0005692	88	154602	rs141958775	0.0006	0.0006	0.0007	0.0006	0.0013	0.0006	0.0006	0.0011	0.0010	5.974e-05	0.0013	0.0001	0	1.872e-05	0.0003	0.0007	0.0006	6.958e-05	0.0005	0.0005	0.0004	0.0006	0.0020	0.0004	0.0004	0.0014	0.0012	0	0	0.0020	0	0	0	0	0.0006	0.0019	0.0002	0.0	0.91255	D	.	.	.	1.0	0.90584	D	1.0	0.97372	D	0.000128	0.49741	D	0.145674	1	0.81001	D	3.705	0.94653	H	1.95	0.22474	T	-12.11	0.99653	D	0.938	0.94668	-0.6471	0.62840	T	0.189	0.54049	T	10	0.57750493	0.65663	D	0.04325	0.60884	D	0.603	0.84345	.	.	0.865915876325	0.86461	0.714406743973031	0.71383	0.584187970407	0.54108	0.678356528282	0.64032	T	0.242905	0.61174	T	-0.00587267	0.50843	T	0.16244	0.80955	D	0.813622057437897	0.47306	D	0.983102	0.94254	D	0.88283795	0.89902	0.84775144	0.91353	0.88283795	0.89903	0.84775144	0.91354	-13.022	0.89455	D	.	.	0.957	0.87636	P	.;.	.;.	5.324522	0.89363	30	0.98836441426569033	0.47052	0.99408	0.95647	D	AEFBI	0.906093	0.85844	D	0.884847844858482	0.90997	10.66602	0.793823987464214	0.89359	9.943147	0.999998657232855	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.85	4.85	0.62375	9.775000	0.98175	11.584000	0.93361	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.846000	0.39970	0.0:0.0:1.0:0.0	18.511	0.90867	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	0.000504	0.005051	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	838.33	36	chr17	11680739	.	G	C	838.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.447;DP=694;ExcessHet=0;FS=10.39;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.52;ReadPosRankSum=0.169;SOR=0.122	GT:AD:DP:GQ:PL	0/1:29,33:62:99:852,0,879	18	0	1	0
chr17	11784312	11784312	G	A	exonic	DNAH9	.	nonsynonymous SNV	DNAH9:NM_001372:exon41:c.G7834A:p.V2612M	.	420	1094	8	0	0	8	0.00364299	.	.	.	1345111	DNAH9-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.276	0.0518140203042	0.0007	0.000599042	0.0006	0.0003	0.0016	0.0001	0	0.0008	0	6.058e-05	0.0006468	100	154602	rs143223880	0.0008	0.0008	0.0008	0.0008	0.0035	0.0008	0.0008	0.0023	0.0019	0.0001	0.0012	0.0002	0.0002	3.744e-05	0.0035	0.0010	0.0008	3.478e-05	0.0006	0.0006	0.0006	0.0006	0.0020	0.0005	0.0005	0.0014	0.0012	0.0001	0	0.0020	0	0.0002	0	0.0034	0.0007	0.0019	0	0.054	0.38633	T	.	.	.	0.965	0.56013	D	0.703	0.54270	P	0.000013	0.62929	D	0.066130	0.995883	0.42905	D	2.63	0.76995	M	0.76	0.49919	T	-2.56	0.55339	D	0.764	0.76203	-0.7321	0.58857	T	0.194	0.54754	T	10	0.15328872	0.28937	T	0.051814	0.64816	D	0.276	0.59253	.	.	0.722565845894	0.72011	0.4616296427355741	0.46080	0.283701081783	0.30804	0.480753064156	0.36160	T	0.083271	0.37017	T	-0.400336	0.02304	T	-0.355095	0.38620	T	0.247755825519562	0.22772	T	0.975469	0.91344	D	0.30445665	0.53301	0.3743296	0.62601	0.36848658	0.58473	0.39443964	0.64137	-8.648	0.65405	D	.	.	0.298	0.52809	B	.;.	.;.	4.129795	0.61790	24.4	0.99539807959741422	0.70398	0.94001	0.59815	D	AEFBI	0.402055	0.47630	N	-0.119424929416037	0.36546	2.113997	-0.21281690391265	0.31074	1.755303	9.63354070028547E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.56	2.02	0.25641	4.155000	0.57910	3.823000	0.39960	-0.130000	0.13190	1.000000	0.71638	1.000000	0.68203	0.848000	0.40082	0.1338:0.1036:0.7626:0.0	12.702	0.56404	867	0.32089	AAA+ ATPase domain;AAA+ ATPase 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	0.005539	0.005051	0.005435	0.011696	0.000000	0.008621	0.003049	0.000000	0.02632	2731.33	34	chr17	11784312	.	G	A	2731.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.27;DP=879;ExcessHet=0;FS=1.078;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.25;ReadPosRankSum=-1.058;SOR=0.779	GT:AD:DP:GQ:PL	0/1:117,106:223:99:2745,0,2708	18	0	1	0
chr17	19783761	19783761	G	T	exonic	ULK2	.	nonsynonymous SNV	ULK2:NM_001142610:exon22:c.C2396A:p.P799H,ULK2:NM_014683:exon22:c.C2396A:p.P799H	.	426	1094	2	0	0	2	0.000913242	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.369	0.043098439008	.	.	8.303e-06	0	0	0	0	0	0	6.262e-05	6.5e-06	1	154602	rs780438234	2.071e-06	2.736e-06	4.119e-06	0	3.604e-05	5.5e-07	1.5e-07	9.57e-06	4.65e-06	0	0	0	0	0	0	0	0	3.604e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.009	0.66756	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	0.99999	0.58761	D	1.79	0.46772	L	-0.34	0.68474	T	-3.12	0.63782	D	0.643	0.66101	-0.1130	0.79798	T	0.468	0.79503	T	10	0.68520486	0.71519	D	0.043098	0.60807	D	0.369	0.68844	0.302	0.27003	0.919807746836	0.91899	0.6782809551578487	0.67767	0.494183501863	0.47986	0.585166394711	0.50813	T	0.220592	0.58392	T	0.173313	0.71427	D	0.0111751	0.71058	D	0.982239127159119	0.74371	D	0.909409	0.67928	D	0.3927715	0.60229	0.39002997	0.63808	0.3927715	0.60229	0.39002997	0.63808	-10.322	0.75817	D	0.17751360910705494	0.22706	0.244	0.50110	B	.;.	.;.	4.976677	0.82408	27.8	0.99716152938812941	0.81703	0.98996	0.89714	D	AEFBI	0.871446	0.79284	D	0.867127968629832	0.90061	10.236	0.86015182582641	0.93594	12.148	0.999998029973634	0.74766	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.58	5.58	0.84361	9.546000	0.97195	11.703000	0.94531	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:0.0:1.0:0.0	18.562	0.91059	582	0.69555	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	890.33	33	chr17	19783761	.	G	T	890.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.757;DP=680;ExcessHet=0;FS=0.985;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.6;ReadPosRankSum=-0.087;SOR=0.562	GT:AD:DP:GQ:PL	0/1:28,33:61:99:904,0,796	18	0	1	0
chr17	29094090	29094090	C	T	exonic	MYO18A	.	nonsynonymous SNV	MYO18A:NM_001346768:exon31:c.G3337A:p.A1113T,MYO18A:NM_078471:exon31:c.G4711A:p.A1571T,MYO18A:NM_203318:exon31:c.G4711A:p.A1571T,MYO18A:NM_001346766:exon32:c.G4747A:p.A1583T,MYO18A:NM_001346765:exon33:c.G4768A:p.A1590T	.	407	1090	23	2	0	27	0.0122338	0.9997	0.924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.300	.	0.0015	0.00638978	0.0080	0.0007	0.0015	0	0.0005	0.0036	0.0036	0.0369	0.0047865	740	154602	rs143502477	0.0040	0.0040	0.0031	0.0049	0.0293	0.0039	0.0038	0.0283	0.0279	0.0004	0.0012	0.0091	7.659e-05	0.0007	0.0080	0.0024	0.0041	0.0293	0.0021	0.0022	0.0017	0.0025	0.0212	0.0019	0.0019	0.0179	0.0167	0.0005	0	0.0011	0.0098	0	0.0008	0	0.0021	0.0014	0.0212	0.299	0.14546	T	0.094	0.39799	T	0.377	0.34270	B	0.146	0.33945	B	0.000000	0.84330	D	0.048826	0.999996	0.81001	D	1.905	0.50856	L	-1.22	0.78752	T	-1.05	0.27463	N	0.219	0.26957	-0.5351	0.67349	T	0.288	0.65997	T	10	0.007357657	0.00167	T	0.088722	0.75188	D	0.300	0.62068	.	.	0.303871581278	0.30001	0.12059705256346016	0.11986	0.377879823805	0.39212	0.760828018188	0.76051	T	0.181998	0.53386	T	-0.314186	0.07385	T	-0.20177	0.54478	T	0.0253364573592902	0.01317	T	0.930407	0.75346	D	0.19335282	0.41041	0.17876357	0.40567	0.19335282	0.41041	0.17876357	0.40567	-8.432	0.64713	D	.	.	0.120	0.24833	B	.;.;.	.;.;.	4.697939	0.75339	26.3	0.98328900892374915	0.40319	0.98260	0.81026	D	AEFDGBI	0.727256	0.67566	D	0.0753578783592612	0.45315	2.790092	0.225876347084099	0.51289	3.312632	0.999999998581905	0.74766	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.43	5.43	0.79006	1.226000	0.32167	7.209000	0.57817	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.947000	0.49155	0.0:1.0:0.0:0.0	19.240	0.93866	244	0.90442	Myosin tail;.;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	0.010574	0.000000	0.009537	0.017544	0.000000	0.000000	0.006098	0.022727	0.02632	1106.33	37	chr17	29094090	.	C	T	1106.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.627;DP=732;ExcessHet=0;FS=5.986;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.3;ReadPosRankSum=1.13;SOR=1.244	GT:AD:DP:GQ:PL	0/1:72,47:119:99:1120,0,1724	18	0	1	0
chr17	29619147	29619147	C	T	exonic	CORO6	.	nonsynonymous SNV	CORO6:NM_032854:exon3:c.G364A:p.E122K	.	425	1095	2	0	0	2	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.308	0.0611557055763	7.9e-05	0.000399361	0.0006	0	0	0.0001	0	0.0003	0	0.0031	0.0005369	83	154602	rs372204134	0.0004	0.0004	0.0003	0.0005	0.0032	0.0004	0.0004	0.0029	0.0028	2.987e-05	0.0001	0	5.038e-05	1.88e-05	0.0003	0.0003	0.0005	0.0032	0.0003	0.0003	0.0003	0.0003	0.0025	0.0002	0.0002	0.0014	0.0011	4.819e-05	0	0	0	0	0	0	0.0004	0	0.0025	0.005	0.63226	D	0.021	0.74150	D	0.963	0.55692	D	0.659	0.52771	P	0.028152	0.25646	N	0.436525	1	0.81001	D	0.29	0.10111	N	0.23	0.59717	T	-3.37	0.66665	D	0.54	0.59308	-0.6750	0.61602	T	0.214	0.57560	T	10	0.018567473	0.00405	T	0.061156	0.68238	D	0.308	0.62947	.	.	0.867152186934	0.86586	0.20387524896997483	0.20304	0.806922132118	0.66524	0.552653551102	0.46231	T	0.085339	0.37480	T	-0.312045	0.07569	T	-0.224998	0.52255	T	0.136068533011536	0.15932	T	0.927407	0.83911	D	.	.	.	.	.	.	.	.	-10.006	0.73948	D	.	.	0.505	0.64794	A	.;.;.;.;.;.	.;.;.;.;.;.	4.882342	0.80089	27.2	0.99188824544949661	0.54906	0.98123	0.79794	D	AEFGBHCI	0.864592	0.78343	D	0.523895000418571	0.68508	5.226654	0.594331947097193	0.74530	6.153142	0.999999999999623	0.74766	0.65861	0.49226	0	0.688826	0.66785	0	0.673471	0.61138	0	0.683535	0.66460	0	.	.	5.69	5.69	0.88346	5.794000	0.68718	7.687000	0.65600	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.0:1.0:0.0:0.0	19.416	0.94688	82	0.96572	.;.;WD40-repeat-containing domain;WD40-repeat-containing domain;WD40-repeat-containing domain;WD40-repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1298.33	34	chr17	29619147	.	C	T	1298.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.49;DP=750;ExcessHet=0;FS=3.815;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.8;ReadPosRankSum=0.823;SOR=1.137	GT:AD:DP:GQ:PL	0/1:60,50:110:99:1312,0,1418	18	0	1	0
chr17	34320872	34320872	C	A	exonic	CCL8	.	nonsynonymous SNV	CCL8:NM_005623:exon3:c.C265A:p.H89N	.	392	1093	35	2	0	39	0.0175281	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	.	0.0038	0.00239617	0.0048	0.0016	0.0034	0.0001	0.0040	0.0059	0.0100	0.0056	0.0044825	693	154602	rs117180331	0.0046	0.0046	0.0044	0.0047	0.0278	0.0045	0.0044	0.0243	0.0229	0.0017	0.0026	0.0074	7.624e-05	0.0027	0.0278	0.0047	0.0047	0.0054	0.0035	0.0035	0.0035	0.0035	0.0051	0.0032	0.0031	0.0047	0.0045	0.0013	0	0.0023	0.0066	0	0.0026	0.0240	0.0051	0.0057	0.0044	.	.	.	0.412	0.14456	T	0.022	0.18677	B	0.021	0.19346	B	0.230781	0.03517	N	1.696870	1	0.08975	N	.	.	.	3.58	0.04594	T	.	.	.	0.124	0.11626	-1.0348	0.18920	T	0.059	0.24686	T	8	0.0110735595	0.00244	T	.	.	.	0.035	0.08770	.	.	0.502191834036	0.49857	0.28196058107485844	0.28109	0.131999103059	0.14881	0.282067149878	0.07783	T	0.086521	0.37743	T	-0.711106	0.00031	T	-0.791896	0.02113	T	0.00467057206448012	0.00050	T	0.0819918	0.00602	T	0.30349264	0.53216	0.3064231	0.56667	0.30349264	0.53216	0.3064231	0.56666	-5.032	0.37186	T	.	.	0.144	0.31808	B	.	.	-0.345839	0.02423	0.273	0.85336713599012115	0.15830	0.05288	0.11132	N	AEFDI	0.079684	0.16100	N	-0.703663549196475	0.15918	0.8065266	-0.695714887143265	0.17067	0.9058338	7.93249978049868E-5	0.04552	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.34	3.31	0.37025	-0.741000	0.04961	-3.535000	0.02714	-0.182000	0.10109	0.000000	0.06391	0.000000	0.08366	0.539000	0.29915	0.1745:0.7354:0.0:0.0901	6.761	0.22729	878	0.29785	Chemokine interleukin-8-like domain|Chemokine interleukin-8-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	0.023162	0.015152	0.021739	0.052632	0.100000	0.017241	0.006098	0.018939	0.05263	1696.83	34	chr17	34320872	.	C	A	1696.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.667;DP=813;ExcessHet=0.119;FS=1.238;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.67;ReadPosRankSum=-0.062;SOR=0.593	GT:AD:DP:GQ:PL	0/1:46,37:83:99:827,0,1071	17	0	2	0
chr17	34989496	34989496	C	T	exonic	LIG3	.	nonsynonymous SNV	LIG3:NM_002311:exon4:c.C722T:p.S241L,LIG3:NM_013975:exon4:c.C722T:p.S241L	.	422	1096	4	0	0	4	0.00182149	.	.	.	975834	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.108	0.0735316299849	0.0003	0.000199681	0.0002	0	0.0002	0	0	0.0004	0	0.0001	0.0002393	37	154602	rs201814781	0.0001	0.0001	0.0001	0.0001	0.0014	0.0001	0.0001	0.0007	0.0005	5.974e-05	0.0004	3.827e-05	0	0	0.0014	0.0001	0.0003	8.116e-05	0.0002	0.0002	0.0002	0.0002	0.0003	0.0001	0.0001	0.0002	0.0002	7.225e-05	0	0	0	0	0	0.0034	0.0003	0.0009	0	0.079	0.33753	T	0.041	0.59732	D	0.003	0.11197	B	0.002	0.06944	B	0.052730	0.22870	N	0.470645	0.998282	0.22247	N	1.43	0.35840	L	0.13	0.69536	T	-1.62	0.38924	N	0.146	0.14763	-0.8432	0.52433	T	0.205	0.56279	T	10	0.061078012	0.07602	T	0.073532	0.71813	D	0.108	0.30607	.	.	0.317378411342	0.31341	0.2328440659221623	0.23199	0.236188989454	0.26158	0.330614924431	0.15028	T	0.352433	0.71987	T	-0.319593	0.06931	T	-0.368889	0.37018	T	0.031215805460713	0.02180	T	0.760924	0.38939	T	0.038140032	0.05025	0.063221425	0.12489	0.038140032	0.05025	0.063221425	0.12489	-5.068	0.38263	T	.	.	0.066	0.02702	B	.;.;.;.	.;.;.;.	1.698427	0.21633	15.28	0.93079444063553129	0.22698	0.59149	0.30835	D	AEFBI	0.147387	0.27105	N	-0.737749100455635	0.14967	0.7502388	-0.730641303239965	0.16200	0.8558122	0.98633644580241	0.31045	0.706548	0.73137	0	0.653731	0.59785	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.95	3.98	0.45383	1.571000	0.36059	1.045000	0.23589	-0.813000	0.03045	0.016000	0.19238	0.000000	0.08366	0.003000	0.05239	0.0:0.8579:0.0:0.1421	11.537	0.49894	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	0	0	1	0	0.001511	0.000000	0.000000	0.002924	0.000000	0.008621	0.003049	0.000000	0.02632	1447.33	36	chr17	34989496	.	C	T	1447.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.275;DP=737;ExcessHet=0;FS=2.497;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.92;ReadPosRankSum=-0.954;SOR=0.458	GT:AD:DP:GQ:PL	0/1:52,60:112:99:1461,0,1312	18	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	.	.	.	.	.	.	.	.	0.4737	11138.3	106	chr17	37257713	.	C	T	11138.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=0.65;DP=1868;ExcessHet=38.2876;FS=429.8;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=60;MQRankSum=0;QD=6.26;ReadPosRankSum=-0.138;SOR=13.755	GT:AD:DP:GQ:PL	0/1:40,56:96:99:566,0,355	1	0	18	0
chr17	38764133	38764133	T	C	exonic	PSMB3	.	nonsynonymous SNV	PSMB3:NM_002795:exon6:c.T584C:p.I195T	.	437	1074	10	1	0	12	0.00555556	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.417	0.0171098515087	0.0003	0.000399361	0.0011	9.735e-05	0	0.0001	0	0.0003	0.0033	0.0066	0.0008797	136	154602	rs200486857	0.0006	0.0006	0.0004	0.0008	0.0066	0.0006	0.0006	0.0061	0.0060	0	6.708e-05	0.0005	0	1.872e-05	0.0040	0.0002	0.0009	0.0066	0.0004	0.0004	0.0003	0.0004	0.0062	0.0003	0.0003	0.0045	0.0039	4.81e-05	0	0.0001	0.0009	0	0	0.0068	0.0002	0.0005	0.0062	.	.	.	0.09	0.40267	T	0.044	0.21686	B	0.163	0.34892	B	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	1.7	0.43825	L	.	.	.	.	.	.	0.837	0.83269	-0.9418	0.42330	T	0.129	0.43787	T	10	0.013218582	0.00281	T	0.01711	0.38673	T	.	.	.	.	0.311889312631	0.30795	0.9525385428532421	0.95237	.	.	0.859771370888	0.91077	D	0.345501	0.71388	T	0.0375635	0.56725	T	0.284767	0.87381	D	0.0470832311135717	0.04980	T	.	.	.	0.7744769	0.82317	0.40355882	0.64807	0.7744769	0.82319	0.40355882	0.64807	-7.633	0.58541	D	.	.	0.565	0.67416	P	.	.	4.857765	0.79462	27.1	0.99345137566987585	0.60331	0.97582	0.75697	D	AEFBCI	0.945944	0.95484	D	0.184895578582469	0.50474	3.237045	0.334079985156535	0.57554	3.92151	0.992659031619117	0.32919	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.34	5.34	0.75982	8.001000	0.88013	7.776000	0.68567	0.641000	0.52212	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	12.687	0.56316	483	0.77230	.	.	.	.	.	.	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	0.005848	0.000000	0.000000	0.000000	0.015152	0.02632	1005.33	33	chr17	38764133	.	T	C	1005.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.97;DP=703;ExcessHet=0;FS=1.728;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.93;ReadPosRankSum=-2.047;SOR=0.95	GT:AD:DP:GQ:PL	0/1:50,42:92:99:1019,0,1134	18	0	1	0
chr17	40026256	40026256	G	A	exonic	MED24	.	nonsynonymous SNV	MED24:NM_001079518:exon18:c.C1846T:p.R616W,MED24:NM_001267797:exon18:c.C1846T:p.R616W,MED24:NM_014815:exon19:c.C1885T:p.R629W,MED24:NM_001330211:exon20:c.C1942T:p.R648W	.	.	.	.	.	.	.	.	.	.	.	3985619	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.326	0.0534136083653	7.7e-05	.	4.12e-05	9.621e-05	0.0003	0	0	1.499e-05	0	0	3.23e-05	5	154602	rs375374665	3.078e-05	3.078e-05	4.22e-05	1.925e-05	0.0001	2.347e-05	2.095e-05	5.804e-05	3.952e-05	0	0.0001	0	2.519e-05	0	0	3.327e-05	1.656e-05	0	6.57e-06	6.567e-06	1.284e-05	0	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.006	0.65419	D	0.002	0.79402	D	0.045	0.61912	B	0.009	0.45556	B	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.3	0.65703	M	0.76	0.49919	T	-2.96	0.62747	D	0.829	0.83167	-0.9954	0.31191	T	0.114	0.40582	T	10	0.35814768	0.52514	T	0.053414	0.65459	D	0.326	0.64826	.	.	0.426551566703	0.42274	0.7915021039524164	0.79102	0.420232389558	0.42552	0.865130066872	0.91865	D	0.431387	0.77952	T	0.0550608	0.58992	T	0.126028	0.78632	D	0.435148119926453	0.30251	T	0.954105	0.82551	D	0.24628925	0.47596	0.22210467	0.47044	0.24628925	0.47596	0.22210467	0.47043	-5.434	0.41245	T	.	.	0.724	0.75714	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.882926	0.93936	33	0.95998655239326081	0.28408	0.88917	0.49082	D	ALL	0.713870	0.66654	D	-0.193945377647924	0.33386	1.893	-0.0997000189783843	0.35403	2.047829	0.999999995231989	0.74766	0.730579	0.87903	0	0.702456	0.74545	0	0.697927	0.64325	0	0.648885	0.59868	0	.	.	4.79	2.82	0.32061	3.597000	0.53777	11.845000	0.97913	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.1551:0.0:0.6956:0.1493	6.159	0.19568	173	0.93306	Mediator complex, subunit Med24, N-terminal;.;Mediator complex, subunit Med24, N-terminal;.;Mediator complex, subunit Med24, N-terminal;Mediator complex, subunit Med24, N-terminal;Mediator complex, subunit Med24, N-terminal	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	2139.33	33	chr17	40026256	.	G	A	2139.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.18;DP=819;ExcessHet=0;FS=0.561;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.44;ReadPosRankSum=0.211;SOR=0.653	GT:AD:DP:GQ:PL	0/1:87,85:172:99:2153,0,2024	18	0	1	0
chr17	40770263	40770263	-	T	exonic	KRT26	.	frameshift insertion	KRT26:NM_181539:exon3:c.670dupA:p.S224Kfs*3	.	430	1087	5	0	0	5	0.00229463	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000798722	0.0006	0	0.0002	0	0	0.0002	0	0.0032	0.0004786	74	154602	rs568008639	0.0002	0.0002	0.0002	0.0003	0.0029	0.0002	0.0002	0.0025	0.0024	2.987e-05	8.944e-05	0	0	0	0.0029	5.576e-05	0.0004	0.0028	0.0002	0.0002	0.0001	0.0003	0.0039	0.0001	0.0001	0.0026	0.0021	7.223e-05	0	0.0001	0	0	0	0	8.823e-05	0.0005	0.0039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002014	0.000000	0.005435	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1635.29	33	chr17	40770263	.	C	CT	1635.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.278;DP=787;ExcessHet=0;FS=1.339;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.76;ReadPosRankSum=0.264;SOR=0.848	GT:AD:DP:GQ:PL	0/1:71,68:141:99:1649,0,1787	18	0	1	0
chr17	41382308	41382308	A	G	exonic	KRT34	.	nonsynonymous SNV	KRT34:NM_021013:exon1:c.T65C:p.L22P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.134	0.018428726593	.	.	8.238e-06	0	0	0	0	0	0.0011	0	7.76e-05	12	154602	rs756013781	5.481e-06	0.0003	8.182e-06	2.754e-06	2.236e-05	2.36e-06	1.7e-06	1.94e-06	1.28e-06	0	2.236e-05	0	0	0	0	5.403e-06	1.659e-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	.	.	.	0.003	0.76473	D	0.976	0.58310	D	0.556	0.49411	P	.	.	.	.	0.999455	0.47118	D	1.245	0.31408	L	-1.89	0.84557	D	.	.	.	0.669	0.67736	-1.0427	0.16503	T	0.078	0.31042	T	8	0.66327584	0.70279	D	0.018429	0.40491	T	.	.	0.428	0.47515	0.761221526906	0.75905	0.03657958571385173	0.03604	0.342438391368	0.36184	0.435077399015	0.29903	T	0.021796	0.16915	T	0.121469	0.66520	D	-0.0632948	0.66101	T	0.91840136051178	0.57665	D	0.333767	0.07077	T	0.1847125	0.39799	0.32490122	0.58410	0.1847125	0.39799	0.32490122	0.58410	-3.974	0.23413	T	.	.	0.079	0.07130	B	.	.	1.715876	0.21849	15.37	0.98901740872576172	0.48199	0.67040	0.33290	D	AEFDBCI	0.211856	0.33761	N	0.136755772330337	0.48185	3.034055	0.188891208117852	0.49238	3.129369	0.733449985707655	0.23090	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.17	5.17	0.70848	1.869000	0.39156	2.221000	0.31450	0.660000	0.55035	0.999000	0.42656	1.000000	0.68203	0.332000	0.25247	0.7462:0.1678:0.086:0.0	5.942	0.18435	167	0.93508	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1053	293.7	37	chr17	41382308	.	A	G	293.7	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-5.883;DP=1756;ExcessHet=0.7564;FS=118.901;InbreedingCoeff=-0.1222;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=0.43;ReadPosRankSum=0.236;SOR=10.341	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:139,26:165:17:0|1:41382308_A_G:17,0,5133:41382308	15	0	4	0
chr17	41382311	41382311	C	G	exonic	KRT34	.	nonsynonymous SNV	KRT34:NM_021013:exon1:c.G62C:p.R21T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.00843288255634	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.114e-05	0.0014	3.86e-05	2.362e-05	3.828e-05	2.374e-05	2.119e-05	2.866e-05	2.541e-05	0	0	3.836e-05	2.523e-05	0	0	3.828e-05	0	1.165e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.187	0.28764	T	0.049	0.22227	B	0.026	0.20792	B	.	.	.	.	0.997716	0.22540	N	0.755	0.19153	N	-1.61	0.82254	D	.	.	.	0.508	0.53972	-1.0258	0.21821	T	0.039	0.16892	T	8	0.18996203	0.34618	T	0.008433	0.22307	T	.	.	0.37	0.38013	0.612421581757	0.60929	0.08565298375764323	0.08499	0.0546681382285	0.06050	0.306222051382	0.11336	T	0.02167	0.16835	T	-0.00440713	0.51045	T	-0.244107	0.50396	T	0.0275842688571556	0.01628	T	0.50295	0.15803	T	0.07200823	0.15984	0.06444694	0.12916	0.07200823	0.15984	0.06444694	0.12916	-3.403	0.15097	T	.	.	0.119	0.24294	B	.	.	1.042832	0.14237	10.81	0.88324392343806579	0.17887	0.65189	0.32654	D	AEFDBCI	0.111491	0.22072	N	-0.660458155333548	0.17157	0.8804225	-0.554068222297903	0.20697	1.116332	0.0465120987434442	0.14694	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.17	-0.174	0.12665	0.036000	0.13706	-0.541000	0.08582	0.596000	0.33519	0.869000	0.30776	0.000000	0.08366	0.387000	0.26492	0.1565:0.3623:0.0:0.4812	4.436	0.10975	167	0.93508	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1053	438.61	37	chr17	41382311	.	C	G	438.61	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-6.381;DP=1894;ExcessHet=0.7564;FS=117.824;InbreedingCoeff=-0.1166;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=0.63;ReadPosRankSum=0.649;SOR=10.665	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:141,26:167:11:0|1:41382308_A_G:11,0,5176:41382308	15	0	4	0
chr17	41515625	41515625	T	C	exonic	KRT15	.	nonsynonymous SNV	KRT15:NM_002275:exon6:c.A1094G:p.Q365R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.882	0.188937355335	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1235585568	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.005	0.65419	D	0.016	0.65728	D	1.0	0.90584	D	1.0	0.97372	D	0.000270	0.46590	D	0.000000	0.99967	0.48205	D	2.67	0.78151	M	-2.49	0.89145	D	-3.76	0.71276	D	0.452	0.56317	0.847	0.94991	D	0.825	0.94118	D	10	0.9535404	0.94702	D	0.188937	0.86032	D	0.882	0.96539	0.843	0.94784	0.9303101047	0.92959	0.5513576683853928	0.55061	0.545423859402	0.51576	0.519266963005	0.41523	T	0.506617	0.87522	D	0.246315	0.78253	D	0.116038	0.77970	D	0.994656920433044	0.86077	D	0.859214	0.60074	D	0.77852523	0.82563	0.7120853	0.83013	0.77852523	0.82565	0.7120853	0.83014	-10.457	0.76600	D	.	.	0.302	0.55438	B	.;.;.;.	.;.;.;.	4.836327	0.78912	27.0	0.99816807675915209	0.89973	0.97138	0.72912	D	AEFDBI	0.703545	0.65955	D	0.699634249060964	0.79606	7.113744	0.625101050360354	0.76768	6.552206	0.999162108950278	0.38622	0.615465	0.37627	0	0.59043	0.45803	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	4.59	4.59	0.56297	4.970000	0.63456	7.871000	0.71963	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:0.0:1.0	14.161	0.64979	424	0.81215	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain;Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain;Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain;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	.	.	.	.	.	.	.	.	0.02632	1852.33	33	chr17	41515625	.	T	C	1852.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.192;DP=788;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.52;ReadPosRankSum=1.69;SOR=0.693	GT:AD:DP:GQ:PL	0/1:70,78:148:99:1866,0,1744	18	0	1	0
chr17	41583592	41583592	T	C	exonic	KRT14	.	nonsynonymous SNV	KRT14:NM_000526:exon5:c.A1012G:p.M338V	Dermatopathia pigmentosa reticularis, Autosomal dominant;Epidermolysis bullosa simplex, Dowling-Meara type, Autosomal dominant;Epidermolysis bullosa simplex, Koebner type, Autosomal dominant;Epidermolysis bullosa simplex, Weber-Cockayne type, Autosomal dominant;Epidermolysis bullosa simplex, recessive 1, Autosomal recessive;Naegeli-Franceschetti-Jadassohn syndrome, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	0.0298631480392	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.82	0.02958	T	0.391	0.15456	T	0.002	0.09854	B	0.01	0.14941	B	0.384530	0.13342	N	0.676680	1	0.08975	N	-0.475	0.02701	N	-2.14	0.86415	D	0.05	0.06369	N	0.184	0.19995	-0.7593	0.57444	T	0.178	0.52350	T	10	0.0622783	0.07939	T	0.029863	0.52294	D	0.156	0.40720	0.476	0.55342	0.528358622244	0.52483	0.6769595830879909	0.67634	0.486763637979	0.47525	0.280945837498	0.07624	T	0.234601	0.60167	T	-0.19446	0.21606	T	-0.517105	0.20587	T	0.0383360823788837	0.03391	T	0.146485	0.01205	T	0.12832592	0.30003	0.094231896	0.22294	0.12832592	0.30003	0.094231896	0.22294	-8.225	0.62593	D	0.06458036742818943	0.02067	0.053	0.00274	B	.	.	-0.335309	0.02465	0.285	0.53536855663550753	0.04959	0.08456	0.14383	N	AEFGBCIJ	0.087557	0.17753	N	-1.71714254368653	0.00782	0.03381495	-1.64048197813168	0.01426	0.06446826	0.999983277089938	0.51787	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.22	-3.97	0.03821	-2.707000	0.00891	-6.484000	0.01386	-1.464000	0.01079	0.000000	0.06391	0.000000	0.08366	0.273000	0.23843	0.1188:0.2518:0.2096:0.4198	1.700	0.02698	276	0.89131	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod 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	.	.	.	.	.	.	.	.	0.02632	1844.33	35	chr17	41583592	.	T	C	1844.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.178;DP=989;ExcessHet=0;FS=6.239;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.9;ReadPosRankSum=-0.429;SOR=0.347	GT:AD:DP:GQ:PL	0/1:68,75:143:99:1858,0,1907	18	0	1	0
chr17	41968672	41968672	G	A	exonic	CNP	.	nonsynonymous SNV	CNP:NM_001330216:exon2:c.G548A:p.R183H,CNP:NM_033133:exon2:c.G608A:p.R203H	.	.	.	.	.	.	.	.	.	.	.	3650504	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.095	0.0199217226919	8.2e-05	.	0.0002	0	0.0013	0	0	7.699e-05	0	0	0.0001617	25	154602	rs372029848	5.473e-05	5.472e-05	4.628e-05	6.326e-05	0.0010	4.477e-05	4.147e-05	0.0008	0.0007	0	0.0010	0	0	0	0.0003	1.439e-05	0.0001	9.276e-05	9.201e-05	9.193e-05	8.994e-05	9.417e-05	0.0005	5.529e-05	4.365e-05	0.0002	0.0002	0	0	0.0005	0	0	0	0	7.35e-05	0	0.0004	0.026	0.49117	D	0.038	0.52060	D	0.115	0.26429	B	0.011	0.15521	B	0.291091	0.14767	N	0.569256	1	0.08975	N	1.93	0.51437	L	0.48	0.55945	T	-2.02	0.46503	N	0.071	0.07262	-0.9330	0.43695	T	0.129	0.43828	T	10	0.038363725	0.02250	T	0.019922	0.42402	T	0.095	0.27398	.	.	0.606882596843	0.60372	0.6889748381992963	0.68837	0.376718791513	0.39108	0.243553519249	0.03119	T	0.402772	0.75970	T	-0.520209	0.00439	T	-0.579213	0.14615	T	0.0226626757831092	0.00984	T	0.853715	0.53946	D	0.10005582	0.23621	0.10576144	0.25429	0.10005582	0.23621	0.10576144	0.25429	-4.666	0.32990	T	.	.	0.092	0.13597	B	.;.	.;.	2.237825	0.28571	17.84	0.98124545999179025	0.38465	0.21185	0.21311	N	AEFDGBCI	.	.	.	-0.796906827420528	0.13390	0.6593017	-0.88018640681683	0.12564	0.647005	0.999997089402647	0.74766	0.722319	0.85440	0	0.696144	0.67643	0	0.698795	0.65105	0	0.735409	0.98432	0	.	.	4.46	-0.0311	0.13238	0.599000	0.23788	2.722000	0.34320	0.676000	0.76740	0.002000	0.15269	0.950000	0.28999	0.044000	0.14658	0.2947:0.0:0.7053:0.0	10.611	0.44613	479	0.77495	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	782.33	33	chr17	41968672	.	G	A	782.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.496;DP=691;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.83;ReadPosRankSum=-1.01;SOR=0.602	GT:AD:DP:GQ:PL	0/1:30,31:61:99:796,0,810	18	0	1	0
chr17	42122855	42122856	AG	-	exonic	HSPB9	.	frameshift deletion	HSPB9:NM_033194:exon1:c.5_6del:p.R3Sfs*3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.467e-05	0	8.721e-05	0	0	4.678e-05	0	0	2.59e-05	4	154602	rs782406082	1.789e-05	1.779e-05	2.05e-05	1.525e-05	0.0001	1.245e-05	1.058e-05	4.374e-05	2.777e-05	0	0.0001	0	0	0	0	1.627e-05	1.668e-05	2.327e-05	3.284e-05	3.283e-05	2.568e-05	4.033e-05	6.539e-05	1.26e-05	7.98e-06	1.171e-05	6.25e-06	2.411e-05	0	6.539e-05	0	0	0	0	4.409e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025706	0.080808	0.014946	0.005848	0.000000	0.043103	0.024390	0.007576	0.02632	1274.29	36	chr17	42122854	.	CAG	C	1274.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.585;DP=737;ExcessHet=0;FS=2.952;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14;ReadPosRankSum=0.231;SOR=1.049	GT:AD:DP:GQ:PL	0/1:55,36:91:99:1288,0,2092	18	0	1	0
chr17	42122855	42122855	A	0	exonic	HSPB9	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	6305.03	101	chr17	42122855	.	A	*	6305.03	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.486;DP=1126;ExcessHet=2.9153;FS=4.378;InbreedingCoeff=-0.2258;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.27;ReadPosRankSum=-0.082;SOR=0.977	GT:AD:DP:GQ:PL	0/1:55,36:91:99:1288,0,2092	18	0	1	0
chr17	42306358	42306358	G	A	exonic	STAT5A	.	nonsynonymous SNV	STAT5A:NM_001288719:exon12:c.G1501A:p.V501M,STAT5A:NM_001288720:exon12:c.G1498A:p.V500M,STAT5A:NM_001288718:exon13:c.G1591A:p.V531M,STAT5A:NM_003152:exon14:c.G1591A:p.V531M	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.500	0.0482640152987	.	.	1.671e-05	9.792e-05	0	0	0	1.518e-05	0	0	3.84e-05	1	26028	rs745410561	1.026e-05	1.026e-05	1.089e-05	9.626e-06	8.961e-05	6.16e-06	4.89e-06	2.375e-05	1.258e-05	8.961e-05	2.236e-05	0	0	0	0	8.094e-06	1.656e-05	1.159e-05	6.571e-06	6.566e-06	0	1.345e-05	.	0	0	.	.	0	0	0	0	0	9.418e-05	0	0	0	0	0.113	0.35726	T	0.232	0.40909	T	0.731	0.42679	P	0.437	0.45591	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.78	0.46185	L	-2.26	0.87989	D	-0.02	0.07299	N	0.498	0.55019	0.294	0.87465	D	0.618	0.86506	D	10	0.4236379	0.57029	T	0.048264	0.63296	D	0.500	0.78350	0.511	0.60846	0.762383276145	0.76021	0.4028810326116549	0.40204	1.1745074142	0.79847	0.636895358562	0.58123	T	0.387858	0.74867	T	-0.024364	0.48230	T	-0.0912458	0.64068	T	0.160085633397102	0.17878	T	0.960404	0.91204	D	0.13207303	0.30765	0.16676986	0.38511	0.13207303	0.30765	0.16676986	0.38510	-8.672	0.65563	D	.	.	0.134	0.43585	B	.;.;.;.;.	.;.;.;.;.	3.600455	0.50854	23.0	0.99865514263474553	0.94366	0.97205	0.73310	D	AEFDGBCI	0.550291	0.56282	D	0.220021174617749	0.52170	3.392927	0.271767916352117	0.53896	3.556601	0.999992567477935	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.644132	0.48003	0	0.714379	0.83352	0	.	.	4.64	3.59	0.40253	2.881000	0.48236	3.294000	0.37329	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.0:0.2687:0.7313:0.0	14.009	0.64000	368	0.84463	STAT transcription factor, DNA-binding;STAT transcription factor, DNA-binding;.;.;STAT transcription factor, DNA-binding	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	2885.33	37	chr17	42306358	.	G	A	2885.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.73;DP=864;ExcessHet=0;FS=3.627;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=54.19;MQRankSum=-1.96;QD=12.23;ReadPosRankSum=-0.189;SOR=0.497	GT:AD:DP:GQ:PL	0/1:125,111:236:99:2899,0,3046	18	0	1	0
chr17	43013615	43013615	G	A	exonic	IFI35	.	nonsynonymous SNV	IFI35:NM_001330230:exon5:c.G515A:p.R172Q,IFI35:NM_005533:exon5:c.G521A:p.R174Q	.	428	1056	34	4	0	42	0.0194986	.	.	.	704159	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.200	.	0.0078	0.00359425	0.0082	0.0014	0.0051	0.0007	0.0021	0.0129	0.0132	0.0021	0.0081047	1253	154602	rs150695787	0.0079	0.0079	0.0079	0.0079	0.0241	0.0078	0.0077	0.0208	0.0196	0.0016	0.0063	0.0530	0.0007	0.0024	0.0241	0.0078	0.0106	0.0025	0.0066	0.0066	0.0069	0.0064	0.0091	0.0063	0.0062	0.0079	0.0077	0.0013	0	0.0091	0.0510	0.0004	0.0026	0.0306	0.0085	0.0066	0.0023	0.106	0.29688	T	0.164	0.31125	T	1.0	0.90584	D	0.984	0.76113	D	0.000008	0.62929	D	0.070465	0.999871	0.19925	N	2.79	0.81396	M	0.86	0.46777	T	-0.9	0.24244	N	0.498	0.53093	-0.7704	0.56836	T	0.223	0.58639	T	10	0.006929964	0.00157	T	.	.	.	0.200	0.48430	.	.	0.484913652648	0.48122	0.5970993023511315	0.59640	0.42604554479	0.42993	0.395032167435	0.24376	T	0.092352	0.38987	T	-0.480353	0.00736	T	-0.452383	0.27434	T	0.0261459651015416	0.01425	T	0.870213	0.59878	D	0.5297764	0.68818	0.3845513	0.63393	0.5297764	0.68819	0.3845513	0.63393	-2.963	0.12106	T	.	.	0.180	0.41663	B	.;.	.;.	4.535300	0.71241	25.6	0.99907404038604708	0.97801	0.82571	0.41780	D	AEFDGBCI	0.396265	0.47280	N	0.393977632713726	0.61094	4.306173	0.261546070718918	0.53307	3.500443	0.999999997459863	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.636168	0.56350	0	.	.	4.93	4.93	0.64394	4.244000	0.58522	11.797000	0.96542	0.676000	0.76740	0.929000	0.32243	1.000000	0.68203	0.247000	0.23184	0.0:0.0:1.0:0.0	14.994	0.71068	319	0.87030	.;.	CTD-3014M21.1|TMEM106A|CTD-3014M21.1|CTD-3014M21.1|CTD-3014M21.1|CTD-3014M21.1|CTD-3014M21.1|CTD-3014M21.1|RND2|CTD-3014M21.1|CTD-3014M21.1|COASY|NBR2|ARL4D|CTD-3014M21.1	Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Muscle_Skeletal|Skin_Sun_Exposed_Lower_leg|Whole_Blood	COASY|COASY|COASY|PSMC3IP	Adipose_Visceral_Omentum|Brain_Cerebellum|Esophagus_Muscularis|Spleen	rs150695787	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.020645	0.010101	0.024457	0.017544	0.000000	0.008621	0.045732	0.007576	0.02632	2371.33	127	chr17	43013615	.	G	A	2371.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.49;DP=2074;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.55;ReadPosRankSum=1.52;SOR=0.698	GT:AD:DP:GQ:PL	0/1:81,94:175:99:2385,0,1881	18	0	1	0
chr17	44349731	44349731	G	A	exonic	GRN	.	nonsynonymous SNV	GRN:NM_002087:exon4:c.G329A:p.R110Q	Aphasia, primary progressive, Autosomal dominant;Ceroid lipofuscinosis, neuronal, 11, Autosomal recessive;Frontotemporal lobar degeneration with ubiquitin-positive inclusions, Autosomal dominant	0	1521	0	1	0	2	0.00065703	.	.	YES	580231	Inborn_genetic_diseases|GRN-related_frontotemporal_lobar_degeneration_with_Tdp43_inclusions|Neuronal_ceroid_lipofuscinosis_11	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485,Orphanet:100070,Orphanet:282|MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706,Orphanet:314629,Orphanet:79262	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.043	0.0119815264466	7.7e-05	0.000199681	9.375e-05	0	8.919e-05	0.0001	0	4.625e-05	0	0.0004	7.76e-05	12	154602	rs375439809	6.658e-05	7.115e-05	6.013e-05	7.308e-05	0.0003	5.58e-05	5.169e-05	0.0002	0.0002	8.986e-05	0.0001	0	5.041e-05	0	0.0003	4.784e-05	0.0001	0.0003	9.189e-05	9.186e-05	0.0001	5.368e-05	0.0003	5.522e-05	4.36e-05	8.866e-05	5.279e-05	9.619e-05	0	0.0003	0	0.0002	0	0	7.349e-05	0	0	0.533	0.06957	T	0.435	0.13518	T	0.0	0.02946	B	0.002	0.06944	B	0.301813	0.03959	N	1.620550	1	0.08975	N	-0.265	0.03777	N	-0.59	0.71543	T	-0.51	0.15986	N	0.179	0.25006	-0.8730	0.50302	T	0.149	0.47505	T	10	0.01883328	0.00414	T	0.011982	0.30135	T	0.167	0.42761	.	.	0.372087925617	0.36815	0.16740576267665724	0.16660	0.269708738211	0.29493	0.172193616629	0.00041	T	0.059044	0.31008	T	-0.440867	0.01278	T	-0.570727	0.15383	T	0.00699848424371086	0.00080	T	0.374163	0.38892	T	0.018794123	0.00403	0.047696564	0.06927	0.01879491	0.00402	0.033775482	0.02329	-5.674	0.43461	T	.	.	0.057	0.01126	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	-0.195712	0.03111	0.495	0.8240802475759329	0.14176	0.00206	0.01180	N	AEFBI	0.350721	0.44407	N	-1.98872984237261	0.00224	0.009586239	-2.06194842235766	0.00225	0.009933665	0.999999991249309	0.74766	0.706298	0.61202	0	0.672317	0.65289	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.11	-8.22	0.00910	-1.476000	0.02439	-4.980000	0.01901	-0.962000	0.01975	0.000000	0.06391	0.000000	0.08366	0.040000	0.14268	0.7355:0.0:0.2645:0.0	16.739	0.85316	501	0.75956	Granulin|Granulin;Granulin|Granulin;Granulin|Granulin;Granulin|Granulin;Granulin|Granulin;Granulin|Granulin;Granulin|Granulin;Granulin|Granulin;Granulin|Granulin;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	751.33	42	chr17	44349731	.	G	A	751.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.21;DP=736;ExcessHet=0;FS=1.192;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.45;ReadPosRankSum=-0.23;SOR=0.434	GT:AD:DP:GQ:PL	0/1:24,28:52:99:765,0,611	18	0	1	0
chr17	47345044	47345044	A	G	exonic	EFCAB13	.	nonsynonymous SNV	EFCAB13:NM_001195192:exon8:c.A463G:p.M155V,EFCAB13:NM_152347:exon8:c.A463G:p.M155V	.	434	1087	0	1	0	2	0.000919118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.00912343073769	.	.	.	.	.	.	.	.	.	.	.	.	.	rs946061135	2.062e-06	2.052e-06	2.735e-06	1.382e-06	2.539e-05	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	2.539e-05	0	0	1.804e-06	0	0	3.286e-05	3.283e-05	1.285e-05	5.381e-05	9.647e-05	1.261e-05	7.98e-06	3.248e-05	1.914e-05	9.647e-05	0	0	0	0	0	0	1.471e-05	0	0	0.03	0.45393	D	0.13	0.34716	T	0.0	0.02946	B	0.0	0.01387	B	0.078808	0.02331	N	2.198750	1	0.08975	N	0.345	0.11182	N	1.52	0.65747	T	-0.22	0.10480	N	0.173	0.23253	-1.0140	0.25656	T	0.121	0.42208	T	10	0.03196186	0.01339	T	0.009123	0.23988	T	0.051	0.14325	0.277	0.23004	0.0401082797425	0.02173	0.052501821012742256	0.05192	0.142435112065	0.16065	0.256441056728	0.04476	T	0.003215	0.02616	T	-0.264305	0.12400	T	-0.617432	0.11388	T	0.0583767065857286	0.06910	T	0.451055	0.12757	T	0.1142969	0.26985	0.08328282	0.19073	0.1142969	0.26985	0.08328282	0.19073	-3.39	0.14922	T	.	.	0.097	0.16756	B	.;.;.	.;.;.	-0.385119	0.02269	0.235	0.75812948073801933	0.11221	0.00861	0.03425	N	AEFBI	0.030279	0.03017	N	-1.40253376554628	0.02616	0.1157903	-1.47985142084646	0.02510	0.1155456	2.54813084297217E-4	0.06190	0.638212	0.43195	0	0.670034	0.63936	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	4.05	-4.65	0.03100	-1.136000	0.03334	-1.657000	0.04973	-0.520000	0.04980	0.000000	0.06391	0.000000	0.08366	0.582000	0.30943	0.4071:0.2928:0.121:0.1791	1.409	0.02148	595	0.68488	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1685.33	34	chr17	47345044	.	A	G	1685.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.211;DP=755;ExcessHet=0;FS=3.957;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.87;ReadPosRankSum=-0.208;SOR=0.442	GT:AD:DP:GQ:PL	0/1:68,74:142:99:1699,0,1581	18	0	1	0
chr17	49168877	49168877	G	A	exonic	B4GALNT2	.	nonsynonymous SNV	B4GALNT2:NM_001159387:exon10:c.G1292A:p.R431H,B4GALNT2:NM_001159388:exon10:c.G1214A:p.R405H,B4GALNT2:NM_153446:exon10:c.G1472A:p.R491H	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.00373812041636	0.0028	0.00219649	0.0012	0.0065	0.0011	0	0	0.0011	0.0012	0	0.0010737	166	154602	rs141826857	0.0006	0.0006	0.0006	0.0006	0.0069	0.0006	0.0006	0.0062	0.0059	0.0069	0.0007	0.0137	2.52e-05	0	0.0030	0.0002	0.0015	0.0001	0.0022	0.0022	0.0021	0.0024	0.0065	0.0020	0.0020	0.0059	0.0056	0.0065	0	0.0005	0.0101	0	0	0.0034	0.0003	0.0009	0.0004	0.032	0.46513	D	0.119	0.40586	T	0.986	0.67487	D	0.676	0.54822	P	0.457068	0.12436	N	0.753467	0.964309	0.25987	N	2.3	0.65703	M	1.96	0.22270	T	-2.78	0.58896	D	0.274	0.31027	-1.0713	0.09129	T	0.037	0.16073	T	10	0.011550486	0.00252	T	0.003738	0.08682	T	0.066	0.19193	.	.	0.535054060289	0.53155	0.4895613630823299	0.48876	0.259319413095	0.28491	0.5434705019	0.44936	T	0.331769	0.70181	T	-0.492297	0.00631	T	-0.473812	0.25107	T	0.0529895753541264	0.06018	T	0.921108	0.72230	D	0.09397613	0.22083	0.10413913	0.25004	0.09397613	0.22083	0.10413913	0.25003	-3.784	0.23158	T	.	.	0.092	0.17103	B	.;.;.	.;.;.	3.777095	0.54290	23.5	0.99932813617727068	0.99439	0.39916	0.26320	N	AEFDBI	0.202478	0.32906	N	0.0391936763909008	0.43648	2.653529	-0.00926384725989188	0.39296	2.327702	4.261447454116E-5	0.03989	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.28	2.09	0.26154	1.332000	0.33410	1.863000	0.29335	0.676000	0.76740	0.016000	0.19238	0.010000	0.20010	0.999000	0.91618	0.2743:0.0:0.5249:0.2008	3.260	0.06441	461	0.78683	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.000000	0.013587	0.005848	0.000000	0.000000	0.000000	0.000000	0.02632	991.33	34	chr17	49168877	.	G	A	991.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.15;DP=711;ExcessHet=0;FS=10.68;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.77;ReadPosRankSum=-0.431;SOR=1.981	GT:AD:DP:GQ:PL	0/1:32,40:72:99:1005,0,685	18	0	1	0
chr17	49210771	49210771	G	A	exonic	ABI3	.	nonsynonymous SNV	ABI3:NM_001135186:exon1:c.G47A:p.R16Q,ABI3:NM_016428:exon1:c.G47A:p.R16Q	.	.	.	.	.	.	.	.	.	.	.	2222922	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.453	0.0744979282597	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs747109470	1.782e-05	2.805e-05	1.829e-05	1.733e-05	8.325e-05	1.223e-05	1.034e-05	2.206e-05	1.111e-05	6.291e-05	2.756e-05	0	8.325e-05	0	0	1.48e-05	0	3.773e-05	1.971e-05	1.97e-05	2.569e-05	1.345e-05	6.544e-05	5.24e-06	2.45e-06	7.99e-06	2.99e-06	4.824e-05	0	6.544e-05	0	0	0	0	0	0	0	0.002	0.72154	D	0.004	0.74150	D	0.741	0.46109	P	0.026	0.26451	B	0.008888	0.30616	N	0.207025	0.999967	0.52935	D	2.585	0.75554	M	-2.98	0.92057	D	-2.74	0.58248	D	0.146	0.14763	0.410	0.89246	D	0.633	0.87139	D	10	0.2204113	0.38737	T	0.074498	0.72057	D	0.453	0.75279	0.498	0.58835	0.875284708608	0.87406	0.5357854514694561	0.53503	0.127775830488	0.14408	0.470355451107	0.34729	T	0.325873	0.69655	T	0.0776609	0.61764	D	-0.126222	0.61288	T	0.982767760753632	0.74689	D	0.963104	0.86259	D	0.4828945	0.66075	0.5715368	0.75187	0.4828945	0.66076	0.5715368	0.75188	-9.627	0.71647	D	.	.	0.116	0.23395	B	.;.	.;.	4.248424	0.64464	24.7	0.99943799392366062	0.99868	0.66463	0.33087	D	ALL	0.365252	0.45350	N	0.225149524908998	0.52421	3.41631	0.248769034326152	0.52579	3.431882	0.999999999988704	0.74766	0.205752	0.04085	2	0.52208	0.09955	0	0.459711	0.06710	0	0.56214	0.19341	0	.	.	4.62	3.61	0.40494	1.091000	0.30526	6.316000	0.55437	0.676000	0.76740	0.588000	0.27650	1.000000	0.68203	0.736000	0.35301	0.0879:0.0:0.9121:0.0	12.215	0.53711	687	0.59234	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1130.33	33	chr17	49210771	.	G	A	1130.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.022;DP=715;ExcessHet=0;FS=4.289;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.62;ReadPosRankSum=2.83;SOR=0.574	GT:AD:DP:GQ:PL	0/1:34,49:83:99:1144,0,748	18	0	1	0
chr17	61869976	61869976	C	G	exonic	INTS2	.	nonsynonymous SNV	INTS2:NM_001330417:exon21:c.G2791C:p.V931L,INTS2:NM_001351695:exon21:c.G2791C:p.V931L,INTS2:NM_020748:exon21:c.G2815C:p.V939L	.	432	1088	2	0	0	2	0.000918274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.226	0.0436625073757	.	0.000599042	0.0004	0	0	0	0	0.0001	0	0.0026	0.0003428	53	154602	rs563606143	0.0002	0.0002	0.0001	0.0002	0.0022	0.0002	0.0001	0.0019	0.0018	0	6.71e-05	7.656e-05	0	0	0.0011	3.868e-05	0.0001	0.0022	8.535e-05	9.186e-05	0.0001	6.714e-05	0.0017	4.953e-05	3.96e-05	0.0008	0.0006	2.406e-05	0	0.0002	0	0	0	0	1.47e-05	0	0.0017	0.034	0.44029	D	0.013	0.63109	D	0.902	0.49745	P	0.927	0.66185	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.975	0.53506	M	0.28	0.59037	T	-2.27	0.50666	N	0.741	0.74098	-0.3498	0.73560	T	0.390	0.74430	T	9	0.018734217	0.00410	T	0.043663	0.61100	D	0.226	0.52472	0.249	0.18602	0.629431430265	0.62640	0.5206956201197347	0.51992	0.749106476794	0.63673	0.762526273727	0.76306	T	0.104567	0.41425	T	-0.107445	0.35191	T	0.067339	0.74732	D	0.0998188480734825	0.12338	T	0.951605	0.81505	D	0.76909184	0.81994	0.4571821	0.68453	0.76909184	0.81995	0.4571821	0.68454	-5.782	0.44417	T	.	.	0.694	0.75282	P	.;.;.;.	.;.;.;.	3.910674	0.57033	23.8	0.99828437966806061	0.91026	0.99042	0.90377	D	AEFBI	0.855138	0.77223	D	0.759547074912791	0.83524	8.040	0.754815842226318	0.86515	8.914408	0.999998722295683	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	5.46	5.46	0.80021	7.537000	0.80946	7.650000	0.63651	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	18.299	0.90099	40	0.97949	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	2514.83	34	chr17	61869976	.	C	G	2514.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.69;DP=785;ExcessHet=0.119;FS=4.332;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.27;ReadPosRankSum=-0.065;SOR=0.999	GT:AD:DP:GQ:PL	0/1:52,48:100:99:1209,0,1521	17	0	2	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	.	.	.	.	.	.	.	.	0.2895	691.29	68	chr17	61968034	.	C	G	691.29	.	AC=11;AF=0.289;AN=38;BaseQRankSum=-0.705;DP=1218;ExcessHet=25.4433;FS=198.029;InbreedingCoeff=-0.6911;MLEAC=11;MLEAF=0.289;MQ=60;MQRankSum=0;QD=0.76;ReadPosRankSum=1.43;SOR=10.515	GT:AD:DP:GQ:PL	0/1:28,25:53:99:101,0,256	8	0	11	0
chr17	63941038	63941038	C	G	exonic	SCN4A	.	nonsynonymous SNV	SCN4A:NM_000334:exon24:c.G5244C:p.K1748N	Hyperkalemic periodic paralysis, type 2, Autosomal dominant;Hypokalemic periodic paralysis, type 2, Autosomal dominant;Myasthenic syndrome, congenital, 16, Autosomal recessive;Myotonia congenita, atypical, acetazolamide-responsive, Autosomal dominant;Paramyotonia congenita, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.580	0.303557141155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.468e-05	0.0004	3.138e-05	1.791e-05	5.983e-05	1.807e-05	1.604e-05	2.122e-05	1.866e-05	5.983e-05	0	0	2.52e-05	0	0	2.975e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.008	0.67890	D	0.996	0.68779	D	0.918	0.65394	D	0.001323	0.39379	N	0.266717	0.981377	0.39770	D	3.46	0.92336	M	-4.04	0.96465	D	-2.91	0.60982	D	0.415	0.45520	1.043	0.97979	D	0.927	0.97601	D	10	0.6123196	0.67513	D	0.303557	0.90961	D	0.580	0.83081	0.384	0.40298	0.898534176303	0.89752	0.5995780334703891	0.59888	0.692431633833	0.60665	0.752315163612	0.74788	T	0.685387	0.90803	D	0.120235	0.66394	D	-0.0650671	0.65976	T	0.989463925361633	0.79699	D	0.831017	0.49766	T	0.7440135	0.80523	0.5270589	0.72675	0.7440135	0.80524	0.5270589	0.72675	-7.785	0.59595	D	0.2770756796120702	0.37175	0.930	0.85031	P	.	.	3.060384	0.41100	21.3	0.99839407367986555	0.91972	0.85331	0.44454	D	AEFDBI	0.586077	0.58426	D	0.579656383859094	0.71907	5.72267	0.473874561743895	0.66263	4.929493	0.870675316718076	0.25410	0.646311	0.45356	0	0.573888	0.26702	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	3.89	3.89	0.44098	0.425000	0.21065	0.146000	0.15234	0.599000	0.40250	0.993000	0.37899	0.937000	0.28687	0.926000	0.46234	0.0:0.9002:0.0:0.0998	9.244	0.36672	834	0.38640	IQ motif, EF-hand binding 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	.	.	.	.	.	.	.	.	0.1	239.62	33	chr17	63941038	.	C	G	239.62	.	AC=3;AF=0.1;AN=30;BaseQRankSum=-5.535;DP=3325;ExcessHet=0.3672;FS=296.962;InbreedingCoeff=-0.1451;MLEAC=3;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.39;ReadPosRankSum=0.198;SOR=11.144	GT:AD:DP:GQ:PL	0/1:131,61:192:99:134,0,2732	12	0	3	4
chr17	65193569	65193569	C	T	exonic	RGS9	.	nonsynonymous SNV	RGS9:NM_001081955:exon12:c.C764T:p.S255L,RGS9:NM_001165933:exon12:c.C764T:p.S255L,RGS9:NM_003835:exon12:c.C773T:p.S258L	Bradyopsia	0	1453	66	3	0	72	0.0241773	.	.	.	177291	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.008	.	0.0013	0.0161741	0.0095	0.0006	0.0046	0.0310	0.0112	0.0027	0.0144	0.0337	0.0085898	1328	154602	rs12452285	0.0052	0.0052	0.0043	0.0060	0.0402	0.0051	0.0050	0.0386	0.0379	0.0004	0.0041	0.0078	0.0402	0.0092	0.0208	0.0014	0.0075	0.0342	0.0050	0.0051	0.0042	0.0060	0.0338	0.0048	0.0046	0.0297	0.0281	0.0003	0	0.0069	0.0084	0.0338	0.0106	0.0306	0.0021	0.0104	0.0330	0.533	0.07140	T	0.364	0.16766	T	0.004	0.12996	B	0.005	0.13708	B	0.894996	0.08660	N	0.956108	1	0.08975	N	-0.245	0.03879	N	1.77	0.25841	T	-1.88	0.44284	N	0.139	0.13769	-0.9934	0.31722	T	0.005	0.01615	T	10	0.0018083751	0.00024	T	.	.	.	0.008	0.00669	.	.	0.295623431141	0.29171	0.40981414253841425	0.40897	0.163159783007	0.18410	0.422357261181	0.28161	T	0.022342	0.63366	T	-0.666907	0.00057	T	-0.70498	0.05558	T	0.00227030650160815	0.00024	T	0.743826	0.36376	T	0.06679562	0.14405	0.053073827	0.08868	0.06560212	0.14035	0.06338211	0.12547	-5.984	0.47125	T	0.055369267226966966	0.01226	0.051	0.00199	B	.;.;.;.	.;.;.;.	0.374779	0.07468	4.108	0.80115924886704315	0.13052	0.01742	0.05496	N	AEFDGBHCI	0.041638	0.06357	N	-1.25891773679573	0.04184	0.1883233	-1.2419042002241	0.05252	0.2498028	0.999989128191357	0.51787	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	4.83	-2.42	0.06164	-0.773000	0.04795	-0.240000	0.10600	-0.773000	0.03420	0.000000	0.06391	0.000000	0.08366	0.914000	0.44937	0.114:0.2403:0.112:0.5337	3.740	0.08054	403	0.82567	G-protein gamma-like domain|G-protein gamma-like domain|G-protein gamma-like domain;G-protein gamma-like domain|G-protein gamma-like domain|G-protein gamma-like domain;.;G-protein gamma-like domain|G-protein gamma-like domain|G-protein gamma-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.028730	0.010101	0.020380	0.040936	0.000000	0.034483	0.027607	0.045455	0.02632	1374.33	33	chr17	65193569	.	C	T	1374.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.478;DP=745;ExcessHet=0;FS=3.47;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.16;ReadPosRankSum=-2.483;SOR=1.037	GT:AD:DP:GQ:PL	0/1:55,58:113:99:1388,0,1386	18	0	1	0
chr17	67913094	67913094	T	C	exonic	BPTF	.	nonsynonymous SNV	BPTF:NM_182641:exon11:c.T5210C:p.I1737T,BPTF:NM_004459:exon13:c.T5588C:p.I1863T	.	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.386	0.0373407228344	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.30800	T	0.098	0.41913	T	0.952	0.54136	P	0.931	0.66596	D	.	.	.	.	0.999974	0.58761	D	0.69	0.16971	N	-2.17	0.86624	D	-2.51	0.54546	D	0.802	0.79792	-0.5163	0.68054	T	0.296	0.66726	T	9	0.5275648	0.62997	D	0.037341	0.57553	D	0.386	0.70276	0.318	0.29581	0.760461648693	0.75827	0.38066254264579524	0.37981	1.20809712396	0.80753	0.84707647562	0.89172	D	0.161999	0.50648	T	0.294651	0.82536	D	0.18547	0.82310	D	0.877559304237366	0.52746	D	0.893911	0.70760	D	0.1498802	0.34148	0.24725312	0.50251	0.1498802	0.34148	0.24725312	0.50250	-7.894	0.62781	D	.	.	0.992	0.94272	P	.;.;.;.;.;.	.;.;.;.;.;.	4.436625	0.68853	25.3	0.99635863245410683	0.76326	0.99422	0.95828	D	AEFBI	0.866992	0.78660	D	0.625882549356151	0.74817	6.19747	0.681267382947607	0.80957	7.416046	0.999999996284056	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	5.76	5.76	0.90726	7.928000	0.87040	7.905000	0.73745	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	16.040	0.80470	838	0.37812	.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	33.33	35	chr17	67913094	.	T	C	33.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.659;DP=866;ExcessHet=0;FS=30.921;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.38;ReadPosRankSum=0.115;SOR=5.065	GT:AD:DP:GQ:PL	0/1:71,16:87:47:47,0,1546	18	0	1	0
chr17	74285052	74285052	C	T	exonic	DNAI2	.	nonsynonymous SNV	DNAI2:NM_001172810:exon3:c.C196T:p.R66W,DNAI2:NM_001353167:exon3:c.C196T:p.R66W,DNAI2:NM_023036:exon3:c.C196T:p.R66W	Ciliary dyskinesia, primary, 9, with or without situs inversus	0	1521	1	0	0	1	0.000328623	.	.	.	403137	DNAI2-related_disorder|Primary_ciliary_dyskinesia|not_provided	.|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.270	0.032121095337	0.0002	.	0.0002	9.699e-05	0	0	0.0005	0.0003	0	6.073e-05	0.0001552	24	154602	rs371226659	8.414e-05	8.414e-05	7.623e-05	9.213e-05	9.352e-05	7.203e-05	6.75e-05	7.86e-05	7.345e-05	2.987e-05	0	0	2.519e-05	0.0002	0	9.352e-05	1.656e-05	3.478e-05	7.228e-05	7.224e-05	5.139e-05	9.415e-05	0.0002	3.971e-05	3.127e-05	6.803e-05	5.087e-05	0	0	0	0	0	9.416e-05	0	0.0001	0	0.0002	0.008	0.58626	D	0.022	0.61642	D	0.999	0.77913	D	0.937	0.67262	D	0.000155	0.49130	D	0.172680	0.999991	0.81001	D	3.265	0.90016	M	2.26	0.17596	T	-5.52	0.85994	D	0.421	0.46835	-0.7705	0.56830	T	0.128	0.43482	T	10	0.2154398	0.38097	T	0.032121	0.54029	D	0.270	0.58507	.	.	0.245660935333	0.24156	0.5810610323158532	0.58035	0.292299643335	0.31640	0.525434434414	0.42391	T	0.126216	0.45244	T	-0.16611	0.25826	T	-0.202082	0.54449	T	0.868430435657501	0.51839	D	0.893911	0.64401	D	0.42394182	0.62353	0.3042515	0.56455	0.42394182	0.62353	0.3042515	0.56454	-8.91	0.67116	D	0.5510985732173299	0.61969	0.271	0.58203	B	.;.;.;.	.;.;.;.	4.150466	0.62260	24.4	0.99909866205783193	0.97949	0.41755	0.26727	N	AEFDBHCI	0.493308	0.52958	N	0.417482294879416	0.62384	4.453374	0.295058847444466	0.55249	3.688239	0.974019823263426	0.29505	0.495158	0.18159	0	0.616935	0.53198	0	0.606814	0.37721	0	0.584449	0.35598	0	.	.	4.92	1.42	0.21524	0.152000	0.16120	0.058000	0.14093	0.599000	0.40250	0.971000	0.34370	0.863000	0.27509	0.994000	0.71098	0.5307:0.4693:0.0:0.0	13.846	0.62962	684	0.59539	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1003.33	33	chr17	74285052	.	C	T	1003.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.175;DP=729;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.53;ReadPosRankSum=0.374;SOR=0.638	GT:AD:DP:GQ:PL	0/1:43,44:87:99:1017,0,1048	18	0	1	0
chr17	75616381	75616386	AGGAGG	-	exonic	MYO15B	.	nonframeshift deletion	MYO15B:NM_001309242:exon37:c.6065_6070del:p.E2032_E2033del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003074	8	26028	rs368250560	0.0018	0.0030	0.0017	0.0019	0.0133	0.0017	0.0017	0.0116	0.0110	0.0133	0.0014	0.0003	0.0003	0.0003	0.0003	0.0011	0.0023	0.0053	0.0043	0.0043	0.0046	0.0040	0.0130	0.0040	0.0039	0.0121	0.0117	0.0130	0	0.0015	0	0.0002	0.0003	0	0.0010	0.0029	0.0030	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	3155.45	39	chr17	75616380	.	CAGGAGG	C	3155.45	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.441;DP=835;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0857;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.83;ReadPosRankSum=-0.214;SOR=0.735	GT:AD:DP:GQ:PL	0/1:32,25:57:99:954,0,1219	18	0	1	0
chr17	76399842	76399842	A	G	exonic	UBE2O	.	nonsynonymous SNV	UBE2O:NM_022066:exon9:c.T1235C:p.M412T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.127	0.0136903436264	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.157e-06	6.156e-06	9.529e-06	2.75e-06	8.094e-06	2.9e-06	2.1e-06	3.81e-06	2.76e-06	0	0	0	0	0	0	8.094e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.671	0.04548	T	0.381	0.15939	T	0.0	0.02946	B	0.0	0.01387	B	0.257639	0.03688	N	1.470860	1	0.08975	N	-0.345	0.03330	N	-0.53	0.70833	T	0.85	0.01736	N	0.198	0.21839	-1.0231	0.22704	T	0.140	0.45866	T	10	0.031837553	0.01325	T	0.01369	0.33283	T	0.127	0.34888	0.086	0.00867	0.147330786459	0.14319	0.15339950517368126	0.15261	0.692225342661	0.60651	0.234150201082	0.02289	T	0.017484	0.14257	T	-0.210655	0.19287	T	-0.540368	0.18259	T	0.0255387944520743	0.01344	T	0.472453	0.14032	T	0.016140798	0.00179	0.05291714	0.08811	0.016140798	0.00179	0.05291714	0.08810	-1.386	0.01546	T	.	.	0.059	0.00780	B	.	.	-0.048267	0.03961	0.889	0.69042637814255581	0.08846	0.06118	0.12095	N	AEFGBI	0.042779	0.06680	N	-0.93690836034291	0.09988	0.4752394	-0.859251625640359	0.13066	0.675736	0.0195843764100313	0.13176	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.66	-2.0	0.07024	-0.007000	0.12747	.	.	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.998000	0.85391	0.3274:0.0:0.391:0.2816	4.966	0.13441	823	0.40596	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	2462.33	34	chr17	76399842	.	A	G	2462.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.788;DP=851;ExcessHet=0;FS=2.435;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.37;ReadPosRankSum=0.42;SOR=0.528	GT:AD:DP:GQ:PL	0/1:98,101:199:99:2476,0,2449	18	0	1	0
chr17	76473690	76473690	C	T	exonic	RHBDF2	.	nonsynonymous SNV	RHBDF2:NM_001005498:exon15:c.G1691A:p.C564Y,RHBDF2:NM_001376228:exon15:c.G1691A:p.C564Y,RHBDF2:NM_001376229:exon15:c.G1691A:p.C564Y,RHBDF2:NM_001376230:exon15:c.G1691A:p.C564Y,RHBDF2:NM_024599:exon15:c.G1778A:p.C593Y	Tylosis with esophageal cancer, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.784	0.243221235747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	2.71	0.79292	M	-0.48	0.70249	T	-10.67	0.99143	D	0.935	0.94077	0.347	0.88292	D	0.600	0.85778	D	10	0.9611144	0.95522	D	0.243221	0.88793	D	0.784	0.92827	0.75	0.88071	0.804080676031	0.80225	0.9798677529001592	0.97977	1.52252279192	0.87447	0.720127105713	0.70065	T	0.560616	0.85285	D	0.361922	0.87400	D	0.282	0.87237	D	0.999830722808838	0.99255	D	0.971703	0.89738	D	0.93640125	0.94881	0.8986176	0.94877	0.93640125	0.94882	0.8986176	0.94878	-13.086	0.89890	D	.	.	0.995	0.95677	P	.;.	.;.	5.095479	0.85110	28.5	0.99803287454360923	0.88817	0.95584	0.65306	D	ALL	0.909453	0.86611	D	0.813502403361346	0.86945	9.050535	0.751231031554089	0.86247	8.829175	0.999999999999998	0.74766	0.77792	0.99625	0	0.697927	0.68747	0	0.854111	0.99894	0	0.636	0.56748	0	.	.	5.21	5.21	0.72005	6.022000	0.70492	.	.	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.0:1.0:0.0:0.0	18.752	0.91784	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	.	.	.	.	.	.	.	.	0.02632	790.33	35	chr17	76473690	.	C	T	790.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.052;DP=697;ExcessHet=0;FS=0.999;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.75;ReadPosRankSum=-0.092;SOR=0.54	GT:AD:DP:GQ:PL	0/1:30,32:62:99:804,0,875	18	0	1	0
chr17	81239923	81239923	A	G	exonic	NDUFAF8	.	nonsynonymous SNV	NDUFAF8:NM_001353403:exon2:c.A17G:p.K6R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.57e-06	6.567e-06	0	1.345e-05	6.542e-05	0	0	.	.	0	0	6.542e-05	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	.	.	.	.	.	.	.	.	0.03125	30.18	1	chr17	81239923	.	A	G	30.18	.	AC=1;AF=0.031;AN=32;BaseQRankSum=0;DP=38;ExcessHet=0;FS=0;InbreedingCoeff=-0.1159;MLEAC=1;MLEAF=0.031;MQ=60;MQRankSum=0;QD=10.06;ReadPosRankSum=-0.967;SOR=0.223	GT:AD:DP:GQ:PL	0/1:1,2:3:16:40,0,16	15	0	1	3
chr17	81442688	81442688	G	A	exonic	BAHCC1	.	nonsynonymous SNV	BAHCC1:NM_001291324:exon5:c.G1339A:p.E447K,BAHCC1:NM_001377448:exon5:c.G1339A:p.E447K	.	410	1110	2	0	0	2	0.00090009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.181	0.121066796313	0.0002	.	9.719e-05	0.0001	0.0001	0	0	9.681e-05	0	0.0001	9.06e-05	14	154602	rs374020665	0.0001	0.0001	0.0001	0.0001	0.0012	9.696e-05	8.891e-05	0.0005	0.0003	0	0.0001	0	0	0	0.0012	0.0002	3.051e-05	2.896e-05	0.0001	0.0001	0.0002	9.415e-05	0.0002	8.666e-05	7.257e-05	0.0001	0.0001	7.237e-05	0	6.543e-05	0	0	0	0	0.0002	0	0	0.173	0.22573	T	0.183	0.29249	T	0.89	0.48942	P	0.119	0.32162	B	.	.	.	.	0.617887	0.30805	N	1.495	0.37439	L	2.68	0.12371	T	-1.37	0.33998	N	0.527	0.58543	-1.0540	0.13305	T	0.022	0.09559	T	9	0.22125944	0.38846	T	0.121067	0.80174	D	0.181	0.45247	.	.	0.0482279557977	0.04254	0.24843366188359162	0.24757	0.483180356244	0.47271	0.913579404354	0.97797	D	0.123885	0.44855	T	-0.13142	0.31268	T	-0.200851	0.54566	T	0.0249266748379798	0.01262	T	0.869013	0.57273	D	0.11215474	0.26498	0.32054007	0.58008	0.11215474	0.26498	0.32054007	0.58007	-5.61	0.42883	T	.	.	0.302	0.53135	B	.;.	.;.	4.531133	0.71134	25.6	0.99892643056560815	0.96666	0.71757	0.35152	D	AEFBI	0.242086	0.36360	N	-0.105851904861486	0.37137	2.156345	-0.0874570067037931	0.35907	2.083076	0.219527000972649	0.18339	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.604944	0.38103	0	.	.	3.89	3.89	0.44098	1.460000	0.34855	9.733000	0.81406	0.585000	0.30472	0.956000	0.33378	1.000000	0.68203	0.897000	0.43391	0.0:0.0:1.0:0.0	14.818	0.69676	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001010	0.000000	0.002725	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1908.33	33	chr17	81442688	.	G	A	1908.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.678;DP=796;ExcessHet=0;FS=3.544;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.83;ReadPosRankSum=-0.049;SOR=0.432	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:57,50:107:99:0|1:81442684_G_A:1922,0,2148:81442684	18	0	1	0
chr17	82253179	82253179	G	C	exonic	CSNK1D	.	nonsynonymous SNV	CSNK1D:NM_001363749:exon4:c.C402G:p.F134L,CSNK1D:NM_001893:exon4:c.C402G:p.F134L,CSNK1D:NM_139062:exon4:c.C402G:p.F134L	Advanced sleep-phase syndrome, familial, 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.585	0.294920260008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	0.999	0.77913	D	0.976	0.74843	D	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	2.075	0.57047	M	0.05	0.61923	T	-5.77	0.87911	D	0.856	0.86191	-0.2906	0.75249	T	0.378	0.73572	T	10	0.8558959	0.84786	D	0.29492	0.90689	D	0.585	0.83360	0.713	0.84872	0.794112205518	0.79219	0.8391474319513283	0.83874	2.45932965126	0.97411	0.943554639816	0.99578	D	0.463857	0.79964	T	0.245163	0.78146	D	0.114383	0.77862	D	0.996541440486908	0.89565	D	0.972453	0.90829	D	0.9611103	0.97392	0.90685	0.95464	0.9611103	0.97392	0.90685	0.95465	-13.686	0.91992	D	.	.	0.999	0.98765	P	.;.;.;.	.;.;.;.	3.476840	0.48528	22.6	0.94285568772606809	0.24584	0.90166	0.51131	D	AEFDGBHCI	0.511037	0.53983	D	-0.0133870369408241	0.41248	2.46393	-0.161674069915806	0.32961	1.880536	0.999992497670314	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.55	-2.31	0.06380	1.140000	0.31128	1.624000	0.27703	-0.244000	0.07312	1.000000	0.71638	1.000000	0.68203	0.797000	0.37605	0.285:0.0:0.715:0.0	14.272	0.65705	.	.	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	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.2188	1224.92	33	chr17	82253179	.	G	C	1224.92	.	AC=7;AF=0.219;AN=32;BaseQRankSum=-4.011;DP=3300;ExcessHet=2.9153;FS=178.806;InbreedingCoeff=-0.3232;MLEAC=8;MLEAF=0.25;MQ=60;MQRankSum=0;QD=0.84;ReadPosRankSum=0.682;SOR=12.631	GT:AD:DP:GQ:PL	0/1:176,72:248:99:369,0,2715	9	0	7	3
chr18	9887397	9887397	C	0	exonic	TXNDC2	.	.	.	.	477	317	422	139	167	867	0.524738	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4211	121308.0	599	chr18	9887397	.	C	*	121308.0	.	AC=16;AF=0.421;AN=38;BaseQRankSum=2.27;DP=10943;ExcessHet=0.0506;FS=0;InbreedingCoeff=0.3091;MLEAC=16;MLEAF=0.421;MQ=59.34;MQRankSum=1.04;QD=14.78;ReadPosRankSum=0.235;SOR=0.697	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:3,351:354:99:1|1:9887391_GGAAGCCATCCAGCCCAAGGAGGGTGACATCCCCAAGTCCCCAGAA_G:13240,1113,0:9887391	6	3	10	0
chr18	12814235	12814235	C	T	exonic	PTPN2	.	nonsynonymous SNV	PTPN2:NM_001308287:exon6:c.G739A:p.A247T,PTPN2:NM_002828:exon7:c.G826A:p.A276T,PTPN2:NM_080422:exon7:c.G826A:p.A276T,PTPN2:NM_080423:exon7:c.G826A:p.A276T,PTPN2:NM_001207013:exon8:c.G895A:p.A299T	.	.	.	.	.	.	.	.	.	.	.	3585126	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.102	0.00876789102268	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1207461588	6.903e-07	3.421e-06	0	1.387e-06	1.18e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.18e-05	1.314e-05	1.314e-05	0	2.691e-05	4.828e-05	2.18e-06	8.2e-07	8e-06	2.99e-06	4.828e-05	0	0	0	0	0	0	0	0	0	0.004	0.65419	D	0.039	0.54934	D	0.535	0.43786	P	0.192	0.37572	B	0.001669	0.38326	N	0.115428	0.999173	0.51042	D	3.2	0.89116	M	3.59	0.08547	T	-3.58	0.69477	D	0.344	0.41261	-1.1337	0.01613	T	0.021	0.08917	T	10	0.35547003	0.52307	T	0.008768	0.23147	T	0.102	0.29158	0.427	0.47350	0.372852800391	0.36900	0.6334288060791295	0.63276	0.105728612331	0.11951	0.501613557339	0.39053	T	0.381024	0.74343	T	-0.0684986	0.41567	T	-0.33617	0.40778	T	0.963272750377655	0.66611	D	0.937806	0.76632	D	0.35962412	0.57807	0.25244695	0.50874	0.35962412	0.57808	0.25244695	0.50873	-9.242	0.69757	D	.	.	0.158	0.47524	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.106374	0.61274	24.3	0.99791293313253737	0.87661	0.97939	0.78280	D	AEFDGBI	0.505265	0.53649	D	0.395752582900315	0.61191	4.316961	0.491495573655148	0.67425	5.082329	0.999999940755575	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.683762	0.67416	0	.	.	5.86	5.86	0.93936	3.760000	0.54947	4.855000	0.45413	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.1426:0.8574:0.0:0.0	14.969	0.70864	746	0.52331	.;.;.;PTP type protein phosphatase;PTP type protein phosphatase;PTP type protein phosphatase;PTP type protein phosphatase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1389	374.99	54	chr18	12814235	.	C	T	374.99	.	AC=5;AF=0.139;AN=36;BaseQRankSum=-1.272;DP=672;ExcessHet=1.3;FS=210.157;InbreedingCoeff=-0.2243;MLEAC=6;MLEAF=0.167;MQ=60;MQRankSum=0;QD=1.62;ReadPosRankSum=1.3;SOR=9.066	GT:AD:DP:GQ:PL	0/1:29,18:47:86:86,0,368	13	0	5	1
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	.	.	.	.	.	.	.	.	0.2941	5491.12	187	chr18	14513679	.	T	G	5491.12	.	AC=10;AF=0.294;AN=34;BaseQRankSum=3.02;DP=4174;ExcessHet=6.9875;FS=11.886;InbreedingCoeff=-0.4081;MLEAC=11;MLEAF=0.324;MQ=50.93;MQRankSum=-9.351;QD=2.03;ReadPosRankSum=-3.085;SOR=1.891	GT:AD:DP:GQ:PL	0/1:209,62:271:99:1023,0,5129	7	0	10	2
chr18	26281974	26281974	G	A	exonic	TAF4B	.	nonsynonymous SNV	TAF4B:NM_001293725:exon6:c.G886A:p.A296T,TAF4B:NM_005640:exon6:c.G886A:p.A296T	.	0	225	1	0	0	1	0.00221729	.	.	.	2818259	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.202	0.0189873992405	8.5e-05	0.000199681	5.862e-05	0	0	0	0	0.0001	0	0	5.82e-05	9	154602	rs199708767	3.701e-05	3.899e-05	3.41e-05	3.995e-05	4.053e-05	2.899e-05	2.597e-05	3.089e-05	2.757e-05	0	0	0	0	0	0	4.053e-05	0.0001	2.329e-05	3.284e-05	3.281e-05	1.285e-05	5.372e-05	6.542e-05	1.26e-05	7.98e-06	1.972e-05	1.125e-05	0	0	6.542e-05	0	0	0	0	5.881e-05	0	0	0.061	0.37118	T	0.014	0.63109	D	0.377	0.34270	B	0.351	0.42849	B	0.000093	0.51296	D	0.173260	0.984973	0.42019	D	2.32	0.66415	M	0.8	0.48769	T	-2.33	0.51646	N	0.491	0.53532	-0.8002	0.55133	T	0.232	0.59757	T	10	0.20642817	0.36903	T	0.018987	0.41227	T	0.202	0.48754	.	.	0.292942362817	0.28906	0.4066184775939623	0.40577	0.226262998433	0.25180	0.533986210823	0.43597	T	0.346332	0.71461	T	-0.189136	0.22386	T	-0.311814	0.43464	T	0.253447711467743	0.23027	T	0.937806	0.76632	D	0.12976377	0.30298	0.17352584	0.39684	0.12976377	0.30298	0.17352584	0.39683	-6.521	0.50449	T	.	.	0.168	0.46458	B	.;.	.;.	4.283195	0.65264	24.8	0.94623600978799483	0.25205	0.95786	0.66147	D	AEFBI	0.525574	0.54829	D	0.393192283237801	0.61052	4.30134	0.435991664765134	0.63822	4.623811	0.999800786705231	0.43304	0.706298	0.61202	0	0.708844	0.79440	0	0.709663	0.75317	0	0.668105	0.65232	0	.	.	5.5	5.5	0.81386	5.696000	0.67947	8.667000	0.77995	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.959000	0.51448	0.0:0.0:0.851:0.1489	14.260	0.65624	844	0.36711	TAFH/NHR1|TAFH/NHR1|TAFH/NHR1;TAFH/NHR1|TAFH/NHR1|TAFH/NHR1	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	836.33	34	chr18	26281974	.	G	A	836.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.033;DP=707;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.33;ReadPosRankSum=0.421;SOR=0.758	GT:AD:DP:GQ:PL	0/1:42,39:81:99:850,0,943	18	0	1	0
chr18	26917075	26917075	C	A	exonic	CHST9	.	nonsynonymous SNV	CHST9:NM_031422:exon6:c.G516T:p.E172D	.	438	1068	15	1	0	17	0.00789596	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	.	0.0019	0.00299521	0.0028	0.0001	0.0009	0.0001	0.0057	0.0026	0.0067	0.0066	0.0026843	415	154602	rs149359030	0.0022	0.0022	0.0021	0.0024	0.0063	0.0022	0.0022	0.0058	0.0057	0.0003	0.0010	0.0077	2.52e-05	0.0084	0.0050	0.0017	0.0021	0.0063	0.0026	0.0026	0.0023	0.0028	0.0070	0.0023	0.0023	0.0052	0.0045	0.0002	0	0.0008	0.0092	0.0002	0.0093	0.0034	0.0029	0.0043	0.0070	.	.	.	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.006679	0.31877	N	0.310484	1	0.08975	N	-1.75	0.00322	N	-0.1	0.64264	T	.	.	.	0.022	0.00571	-1.0246	0.22214	T	0.035	0.15030	T	10	0.0025432706	0.00038	T	.	.	.	.	.	0.414	0.45216	0.314417295294	0.31040	0.28074191338002796	0.27987	.	.	0.318222284317	0.13151	T	0.060103	0.31295	T	-0.60998	0.00127	T	-0.646081	0.09231	T	0.000571501802799079	0.00005	T	0.059594	0.00430	T	0.045573115	0.07481	0.038288143	0.03666	0.045573115	0.07481	0.038288143	0.03665	-5.204	0.38982	T	.	.	0.070	0.03736	B	.;.	.;.	0.330550	0.07045	3.610	0.7634190321159201	0.11429	0.01120	0.04086	N	AEFBHCI	0.032658	0.03729	N	-1.3980929535488	0.02656	0.1176084	-1.27057911160516	0.04833	0.2289488	0.963894131438598	0.28722	0.638212	0.43195	0	0.59043	0.45803	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	6.16	-0.787	0.10391	0.252000	0.18046	0.066000	0.14196	-0.043000	0.17390	0.000000	0.06391	0.000000	0.08366	0.992000	0.67800	0.4943:0.2759:0.1388:0.0911	3.259	0.06438	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	0	0	0	1	0	0	0	0.005539	0.000000	0.001359	0.011696	0.000000	0.000000	0.015244	0.003788	0.02632	2591.33	33	chr18	26917075	.	C	A	2591.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.067;DP=837;ExcessHet=0;FS=3.169;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.89;ReadPosRankSum=-0.148;SOR=0.508	GT:AD:DP:GQ:PL	0/1:105,96:201:99:2605,0,2939	18	0	1	0
chr18	31082255	31082255	C	G	exonic	DSC2	.	nonsynonymous SNV	DSC2:NM_004949:exon9:c.G1246C:p.V416L,DSC2:NM_024422:exon9:c.G1246C:p.V416L	Arrhythmogenic right ventricular dysplasia 11, Autosomal recessive, Autosomal dominant;Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.011344289712	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.413	0.10052	T	0.177	0.54159	T	0.01	0.17573	B	0.027	0.21085	B	0.666886	0.06013	N	1.267280	0.999998	0.08975	N	1.725	0.44537	L	1.14	0.38397	T	-1.61	0.38734	N	0.156	0.16168	-0.9819	0.34561	T	0.080	0.31615	T	10	0.13318062	0.25347	T	0.011344	0.28865	T	0.077	0.22490	0.688	0.82558	0.12205267543	0.11705	0.43306485416350565	0.43223	0.111390099725	0.12571	0.291384160519	0.09123	T	0.088498	0.38172	T	-0.302298	0.08444	T	-0.672006	0.07480	T	0.0542109735235925	0.06225	T	0.958804	0.87188	D	0.1655153	0.36828	0.11361059	0.27420	0.1655153	0.36827	0.11361059	0.27419	-5.049	0.37367	T	0.33372404027871755	0.43169	0.203	0.42777	B	.;.;.	.;.;.	0.262354	0.06405	2.875	0.70445472085598071	0.09298	0.03623	0.08862	N	AEFBI	0.098099	0.19774	N	-1.24669643675593	0.04344	0.1958442	-1.2590431636373	0.04998	0.237153	0.0286040104485228	0.13841	0.732398	0.92422	0	0.588015	0.36545	0	0.743671	0.96076	0	0.564101	0.26826	0	.	.	5.69	-4.04	0.03741	-3.763000	0.00419	-2.150000	0.04139	-0.862000	0.02622	0.000000	0.06391	0.000000	0.08366	0.894000	0.43146	0.0929:0.4018:0.0:0.5053	9.24	0.36652	844	0.36711	Cadherin-like|Cadherin-like|Cadherin-like;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	50.34	77	chr18	31082255	.	C	G	50.34	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.842;DP=1107;ExcessHet=0;FS=67.106;InbreedingCoeff=-0.0279;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.83;ReadPosRankSum=1.01;SOR=6.587	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:46,15:61:64:.:.:64,0,700:.	18	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	.	.	.	.	.	.	.	.	0.4444	3348.45	99	chr18	31541297	.	G	A	3348.45	.	AC=16;AF=0.444;AN=36;BaseQRankSum=-0.192;DP=1152;ExcessHet=25.4433;FS=375.107;InbreedingCoeff=-0.7874;MLEAC=17;MLEAF=0.472;MQ=60;MQRankSum=0;QD=3.6;ReadPosRankSum=1.09;SOR=12.356	GT:AD:DP:GQ:PL	0/1:34,37:71:99:387,0,461	2	0	16	1
chr18	34864049	34864049	T	C	exonic	DTNA	.	nonsynonymous SNV	DTNA:NM_001198943:exon7:c.T719C:p.M240T,DTNA:NM_032981:exon7:c.T515C:p.M172T,DTNA:NM_001198944:exon8:c.T605C:p.M202T,DTNA:NM_032980:exon8:c.T593C:p.M198T,DTNA:NM_001198942:exon10:c.T776C:p.M259T,DTNA:NM_001198945:exon10:c.T899C:p.M300T,DTNA:NM_001198941:exon14:c.T1469C:p.M490T,DTNA:NM_001198938:exon15:c.T1469C:p.M490T,DTNA:NM_001198939:exon15:c.T1469C:p.M490T,DTNA:NM_001198940:exon15:c.T1469C:p.M490T,DTNA:NM_001390:exon16:c.T1649C:p.M550T,DTNA:NM_001391:exon16:c.T1649C:p.M550T,DTNA:NM_032975:exon16:c.T1478C:p.M493T,DTNA:NM_032978:exon16:c.T1640C:p.M547T,DTNA:NM_032979:exon16:c.T1478C:p.M493T	Left ventricular noncompaction 1, with or without congenital heart defects, Autosomal dominant	1	1520	1	0	0	1	0.000328839	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.410	0.0790784440192	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.859e-07	1.368e-06	0	1.38e-06	9.007e-07	0	0	.	.	0	0	0	0	0	0	9.007e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.78490	D	0.008	0.76473	D	0.984	0.60733	D	0.917	0.69739	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.035	0.86516	M	2.08	0.24472	T	-5.6	0.87380	D	0.78	0.87590	-0.8824	0.49569	T	0.149	0.47610	T	10	0.6974919	0.72236	D	0.079078	0.73152	D	0.410	0.72176	0.13	0.03494	0.606965515249	0.60381	0.6010981215675525	0.60040	1.11560658413	0.78161	0.905379951	0.97015	D	0.828309	0.95874	D	0.262153	0.79727	D	0.138788	0.79466	D	0.996301151428091	0.89073	D	0.987934	0.95926	D	0.8158216	0.84940	0.8286825	0.90100	0.8158216	0.84941	0.8286825	0.90100	-13.741	0.95652	D	0.6592513496974028	0.73248	0.977	0.98907	P	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	4.794952	0.77846	26.8	0.99222688226122646	0.55963	0.98325	0.81646	D	AEFI	0.938590	0.93800	D	0.808147112687593	0.86614	8.941913	0.804636573510507	0.90113	10.26226	0.999999999941133	0.74766	0.638212	0.43195	0	0.547309	0.14657	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	5.86	5.86	0.93936	8.008000	0.88114	7.900000	0.73503	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	16.245	0.82265	839	0.37672	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	901.33	39	chr18	34864049	.	T	C	901.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.799;DP=688;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.87;ReadPosRankSum=1.21;SOR=0.743	GT:AD:DP:GQ:PL	0/1:26,39:65:99:915,0,638	18	0	1	0
chr18	36594809	36594809	C	T	exonic	FHOD3	.	nonsynonymous SNV	FHOD3:NM_001281739:exon7:c.C629T:p.A210V,FHOD3:NM_001281740:exon7:c.C629T:p.A210V,FHOD3:NM_025135:exon7:c.C629T:p.A210V	.	424	1094	3	1	0	5	0.00227998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.309	0.0343945746829	.	.	1.696e-05	0	0	0	0	1.531e-05	0	6.422e-05	1.29e-05	2	154602	rs777319517	1.574e-05	1.71e-05	9.532e-06	2.201e-05	0.0014	1.048e-05	8.76e-06	0.0007	0.0005	0	0	0	0	0	0.0014	8.995e-06	4.969e-05	2.321e-05	1.972e-05	1.97e-05	1.285e-05	2.692e-05	0.0001	5.24e-06	2.45e-06	2.261e-05	9.07e-06	0	0	0.0001	0	0	0	0	1.47e-05	0	0	0.017	0.51248	D	0.003	0.76473	D	0.999	0.77913	D	0.803	0.59984	P	0.000315	0.45977	D	0.222358	0.99799	0.81001	D	2.195	0.61839	M	1.78	0.25678	T	-3.41	0.67129	D	0.646	0.66443	-0.8420	0.52513	T	0.163	0.49914	T	10	0.6448403	0.69266	D	0.034395	0.55648	D	0.309	0.63055	.	.	0.319322697148	0.31537	0.5929926008507249	0.59229	0.666451793028	0.59196	0.776412189007	0.78387	T	0.366752	0.73195	T	-0.0466827	0.44949	T	-0.289347	0.45842	T	0.96133828163147	0.66053	D	0.970803	0.89535	D	0.34325874	0.56538	0.27134818	0.53034	0.34325874	0.56538	0.27134818	0.53033	-10.287	0.75612	D	.	.	0.455	0.66012	A	.;.;.	.;.;.	4.237007	0.64207	24.7	0.99907266920222548	0.97726	0.96815	0.71088	D	AEFDBI	0.892230	0.82897	D	0.674371460684084	0.77953	6.775148	0.609482588964125	0.75628	6.344237	0.99999999999999	0.74766	0.626454	0.40138	0	0.633656	0.55848	0	0.80507	0.99327	0	0.620846	0.47308	0	.	.	5.3	5.3	0.74745	7.840000	0.85068	7.612000	0.61951	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.259000	0.23493	0.0:1.0:0.0:0.0	16.819	0.85603	807	0.43470	.;.;Rho GTPase-binding/formin homology 3 (GBD/FH3) 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	.	.	.	.	.	.	.	.	0.02632	1317.33	37	chr18	36594809	.	C	T	1317.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.001;DP=742;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.76;ReadPosRankSum=0.14;SOR=0.684	GT:AD:DP:GQ:PL	0/1:52,60:112:99:1331,0,1224	18	0	1	0
chr18	45063305	45063305	G	T	exonic	SETBP1	.	nonsynonymous SNV	SETBP1:NM_001379141:exon6:c.G4398T:p.E1466D,SETBP1:NM_001379142:exon6:c.G4398T:p.E1466D,SETBP1:NM_015559:exon6:c.G4398T:p.E1466D	Mental retardation, autosomal dominant 29, Autosomal dominant;Schinzel-Giedion midface retraction syndrome, Autosomal dominant	0	1456	61	5	0	71	0.0238015	.	.	.	169434	not_specified|not_provided|Schinzel-Giedion_syndrome|Intellectual_disability,_autosomal_dominant_29	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010010,MedGen:C0265227,OMIM:269150,Orphanet:798|MONDO:MONDO:0014482,MedGen:C4015141,OMIM:616078,Orphanet:436151	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.079	.	0.0065	0.0173722	0.0176	0.0132	0.0149	0.0329	0.0069	0.0073	0.0383	0.0509	0.0109442	1692	154602	rs117498128	0.0084	0.0085	0.0075	0.0094	0.0399	0.0083	0.0083	0.0388	0.0383	0.0096	0.0066	0.0131	0.0187	0.0041	0.0293	0.0055	0.0118	0.0399	0.0082	0.0082	0.0079	0.0084	0.0404	0.0078	0.0076	0.0358	0.0340	0.0094	0	0.0084	0.0130	0.0225	0.0032	0.0272	0.0044	0.0109	0.0404	0.084	0.32929	T	0.104	0.38160	T	0.0	0.02946	B	0.004	0.10090	B	0.000019	0.62929	N	0.065506	0.91486	0.27426	N	0.55	0.14455	N	-0.5	0.70480	T	-0.52	0.16187	N	0.036	0.01068	-0.9544	0.40203	T	0.099	0.36907	T	10	0.0029321015	0.00047	T	.	.	.	0.079	0.23065	0.087	0.00904	.	.	0.3810283839473475	0.38017	1.20063584423	0.80531	0.609025359154	0.54177	T	0.217539	0.58001	T	-0.455748	0.01044	T	-0.398859	0.33517	T	0.0065739363059322	0.00073	T	0.660634	0.26999	T	0.08405434	0.19437	0.08177906	0.18613	0.080357365	0.18408	0.08829835	0.20580	-3.87	0.21854	T	0.1442054072123103	0.16456	0.061	0.01109	B	.;.	.;.	2.656496	0.34597	19.67	0.99168451085546527	0.54326	0.71334	0.34968	D	AEFBCI	0.217990	0.34305	N	-0.236438051980183	0.31649	1.776725	-0.0887524866285267	0.35853	2.079308	0.99988919570613	0.44867	0.562547	0.31514	0	0.653731	0.59785	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	5.16	3.29	0.36801	2.306000	0.43333	7.370000	0.58392	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.1313:0.1482:0.568:0.1525	3.667	0.07794	891	0.26808	.;.	.	.	.	.	.	Likely benign	0	0	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	0.017659	0.005051	0.019022	0.020468	0.000000	0.035088	0.009202	0.030303	0.02632	3821.33	34	chr18	45063305	.	G	T	3821.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.328;DP=948;ExcessHet=0;FS=0.434;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.41;ReadPosRankSum=0.002;SOR=0.662	GT:AD:DP:GQ:PL	0/1:160,148:308:99:3835,0,4418	18	0	1	0
chr18	46433450	46433450	C	T	exonic	RNF165	.	nonsynonymous SNV	RNF165:NM_152470:exon2:c.C322T:p.L108F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.221	0.0235469053453	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.49117	D	0.0	0.92824	D	0.998	0.73220	D	0.991	0.79672	D	0.000001	0.84330	D	0.000000	1	0.81001	D	1.745	0.45235	L	2.09	0.20122	T	-0.54	0.16598	N	0.526	0.55540	-1.0677	0.09926	T	0.128	0.43625	T	10	0.34908047	0.51809	T	0.023547	0.46515	T	0.221	0.51721	0.282	0.23801	0.19168177325	0.18762	0.5812346988314699	0.58052	1.65414040978	0.89593	0.815755844116	0.84376	D	0.052448	0.29163	T	0.0324391	0.56047	T	-0.19118	0.55478	T	0.935718953609467	0.60415	D	0.937606	0.76517	D	0.2563864	0.48678	0.2522449	0.50849	0.2563864	0.48678	0.2522449	0.50849	-7.041	0.54332	T	.	.	0.497	0.64463	A	.;.	.;.	5.066911	0.84484	28.3	0.99901191227663455	0.97275	0.97790	0.77152	D	AEFDBI	0.842420	0.75953	D	0.701768887172906	0.79746	7.143655	0.705070174995814	0.82764	7.848448	0.999999999999999	0.74766	0.72623	0.87236	0	0.59043	0.45803	0	0.594344	0.31042	0	0.613276	0.41899	0	.	.	5.48	5.48	0.80675	7.378000	0.78957	7.566000	0.60594	0.591000	0.32079	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	19.355	0.94398	933	0.16026	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	689.33	39	chr18	46433450	.	C	T	689.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.08;DP=704;ExcessHet=0;FS=2.208;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.68;ReadPosRankSum=-1.492;SOR=1.101	GT:AD:DP:GQ:PL	0/1:32,27:59:99:703,0,746	18	0	1	0
chr18	47247094	47247094	G	C	exonic	SKOR2	.	nonsynonymous SNV	SKOR2:NM_001278063:exon2:c.C2090G:p.P697R	.	525	993	3	1	0	5	0.0025113	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.234	0.973549512319	.	.	0.0060	0	0	0	.	0	0	0.0080	0.000207	32	154602	rs750657311	0.0002	0.0003	0.0002	0.0003	0.0035	0.0002	0.0002	0.0031	0.0029	0	0	0	0	0	0.0018	6.964e-05	0.0004	0.0035	0.0002	0.0002	0.0001	0.0003	0.0040	0.0002	0.0001	0.0027	0.0022	2.454e-05	0	0	0	0	0	0	0.0002	0.0005	0.0040	0.0	0.91255	D	0.158	0.32568	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-1.51	0.81399	D	-0.56	0.17003	N	0.334	0.37509	-0.4646	0.69912	T	0.331	0.69885	T	7	0.0069221854	0.00157	T	0.97355	0.99845	D	0.234	0.53644	0.269	0.21735	0.2338531098	0.23012	0.21449005873153404	0.21365	1.00740469669	0.74634	0.894780635834	0.95841	D	.	.	.	-0.012214	0.49954	T	-0.255321	0.49289	T	0.117522916040505	0.14185	T	0.416558	0.10945	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.272	0.50581	B	.;.	.;.	3.006184	0.40184	21.1	0.98384925727183437	0.40894	0.33883	0.24935	N	AEFBCI	0.050316	0.08782	N	-0.221735573876825	0.32242	1.81629	-0.231720226448215	0.30406	1.711748	0.929711746354101	0.26979	0.59774	0.34471	0	0.59043	0.45803	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	3.42	2.44	0.28875	0.782000	0.26449	0.000000	0.13247	0.466000	0.21733	0.883000	0.31049	0.953000	0.29079	0.689000	0.33808	0.0:0.0:0.7301:0.2699	7.055	0.24272	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	.	.	.	.	.	.	.	.	0.02632	253.34	25	chr18	47247094	.	G	C	253.34	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.421;DP=352;ExcessHet=0;FS=0;InbreedingCoeff=-0.0275;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.33;ReadPosRankSum=1.19;SOR=0.818	GT:AD:DP:GQ:PL	0/1:9,10:19:99:267,0,244	18	0	1	0
chr18	50729633	50729633	G	A	exonic	MAPK4	.	nonsynonymous SNV	MAPK4:NM_001292039:exon5:c.G910A:p.E304K,MAPK4:NM_002747:exon6:c.G1543A:p.E515K	.	362	1146	14	0	0	14	0.00607112	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.154	.	.	0.00279553	0.0054	0.0510	0	0	0	0	0	0.0058	0.0004528	70	154602	rs573296530	0.0007	0.0007	0.0007	0.0007	0.0156	0.0007	0.0007	0.0128	0.0118	0.0132	0.0016	4.796e-05	0	6.563e-05	0.0156	0.0002	0.0017	0.0020	0.0037	0.0037	0.0037	0.0036	0.0118	0.0034	0.0033	0.0110	0.0106	0.0118	0	0.0019	0	0	0	0.0068	0.0003	0.0028	0.0017	0.006	0.63226	D	0.062	0.45318	T	0.273	0.31830	B	0.019	0.18783	B	0.021191	0.26883	U	0.160399	0.999965	0.52935	D	0.975	0.24501	L	-0.67	0.72458	T	-0.34	0.12847	N	0.151	0.29889	-0.7574	0.57546	T	0.182	0.52934	T	10	0.006335616	0.00143	T	.	.	.	0.154	0.40340	.	.	0.773770914551	0.77169	0.29089173039189914	0.29002	0.679247475551	0.59926	0.696700811386	0.66667	T	0.019962	0.15803	T	-0.364443	0.03885	T	-0.275324	0.47281	T	0.0173897777317282	0.00477	T	0.694731	0.30434	T	0.14044538	0.32403	0.109787725	0.26464	0.14044538	0.32403	0.109787725	0.26463	-4.389	0.29408	T	.	.	0.110	0.21353	B	.;.	.;.	2.244526	0.28667	17.87	0.99188182896856347	0.54906	0.93701	0.58944	D	AEFDBI	0.530622	0.55124	D	-0.283688783114972	0.29778	1.654415	-0.222475343913183	0.30731	1.732925	0.836133826441814	0.24782	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.564101	0.26826	0	.	.	4.86	4.86	0.62624	3.466000	0.52835	5.364000	0.48408	0.583000	0.30283	0.927000	0.32177	1.000000	0.68203	0.005000	0.06747	0.0:0.167:0.833:0.0	12.650	0.56119	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	0.010266	0.005952	0.015679	0.029032	0.000000	0.000000	0.000000	0.000000	0.02632	1204.33	33	chr18	50729633	.	G	A	1204.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.36;DP=714;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.17;ReadPosRankSum=-0.891;SOR=0.655	GT:AD:DP:GQ:PL	0/1:39,46:85:99:1218,0,895	18	0	1	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	.	.	.	.	.	.	.	.	0.4737	3265.29	67	chr18	65824683	.	C	G	3265.29	.	AC=18;AF=0.474;AN=38;BaseQRankSum=0.376;DP=1741;ExcessHet=38.2876;FS=194.625;InbreedingCoeff=-0.8995;MLEAC=18;MLEAF=0.474;MQ=60;MQRankSum=0;QD=2.24;ReadPosRankSum=1.26;SOR=12.236	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:47,24:71:99:.:.:229,0,1036:.	1	0	18	0
chr19	731135	731135	G	A	exonic	PALM	.	nonsynonymous SNV	PALM:NM_001040134:exon5:c.G310A:p.A104T,PALM:NM_002579:exon5:c.G310A:p.A104T	.	.	.	.	.	.	.	.	.	.	.	1502413	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.019	0.0129284622569	0.0005	0.000199681	0.0005	0.0003	0.0004	0	0.0004	0.0007	0	0.0002	0.0003105	48	154602	rs144513487	0.0004	0.0004	0.0004	0.0004	0.0005	0.0004	0.0004	0.0005	0.0005	3.005e-05	0.0004	0	0	7.777e-05	0.0002	0.0005	0.0002	7.059e-05	0.0003	0.0003	0.0003	0.0004	0.0006	0.0003	0.0002	0.0004	0.0004	0.0001	0	0.0002	0	0	0.0002	0	0.0006	0.0005	0	0.178	0.23721	T	0.592	0.08161	T	0.209	0.29944	B	0.08	0.28873	B	0.106007	0.02593	N	2.523690	1	0.08975	N	1.61	0.41143	L	2.2	0.18570	T	-1.72	0.40850	N	0.069	0.04188	-1.0223	0.22965	T	0.036	0.15683	T	10	0.022487015	0.00563	T	0.012928	0.31926	T	0.019	0.03383	.	.	0.3085936734	0.30458	0.14685323737603073	0.14607	0.143497740287	0.16199	0.394832253456	0.24348	T	0.037465	0.24486	T	-0.331353	0.06010	T	-0.713742	0.05104	T	0.0242513691128363	0.01177	T	0.425557	0.11413	T	0.040799953	0.05892	0.051123735	0.08164	0.040799953	0.05892	0.051123735	0.08164	-3.938	0.22873	T	.	.	0.067	0.02370	B	.;.	.;.	0.440468	0.08107	4.835	0.97044650065839655	0.32126	0.05453	0.11331	N	AEFBI	0.162428	0.28860	N	-0.792760537896641	0.13498	0.6653611	-0.86251165680125	0.12987	0.6712232	2.32010766513472E-4	0.06095	0.695654	0.57023	0	0.588066	0.40923	0	0.723109	0.80598	0	0.655142	0.61905	0	.	.	4.17	1.95	0.25130	0.421000	0.20999	-0.497000	0.08825	-0.176000	0.10722	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.1145:0.2186:0.6669:0.0	6.522	0.21480	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	0	0	.	.	.	.	.	.	.	.	0.02632	1077.33	34	chr19	731135	.	G	A	1077.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.336;DP=1060;ExcessHet=0;FS=1.706;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.84;ReadPosRankSum=-0.532;SOR=0.496	GT:AD:DP:GQ:PL	0/1:44,47:91:99:1091,0,1056	18	0	1	0
chr19	2039747	2039747	C	T	exonic	MKNK2	.	nonsynonymous SNV	MKNK2:NM_199054:exon14:c.G1264A:p.G422S	.	415	1103	3	1	0	5	0.00226142	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.0219432621934	0.0012	0.000798722	0.0013	0.0002	0.0025	0	0.0002	0.0019	0.0012	0	0.0013389	207	154602	rs140693851	0.0013	0.0013	0.0013	0.0013	0.0036	0.0012	0.0012	0.0024	0.0021	0.0002	0.0019	0.0005	2.52e-05	0.0003	0.0036	0.0015	0.0013	0.0001	0.0012	0.0012	0.0013	0.0010	0.0035	0.0010	0.0010	0.0027	0.0025	0.0004	0	0.0035	0.0006	0	0.0004	0.0136	0.0014	0.0024	0	0.78	0.03289	T	0.323	0.18959	T	0.0	0.02946	B	0.001	0.04355	B	0.710961	0.10014	N	0.881421	1	0.81001	D	-0.065	0.04868	N	-0.15	0.65192	T	-0.06	0.07882	N	0.095	0.07535	-0.9988	0.30255	T	0.155	0.48670	T	10	0.0043705106	0.00089	T	0.021943	0.44774	T	0.085	0.24743	.	.	0.566443977814	0.56308	0.18195674721886385	0.18114	0.0378742616827	0.04022	0.329536378384	0.14863	T	0.054374	0.29707	T	-0.523045	0.00422	T	-0.529952	0.19292	T	0.0153127183508552	0.00339	T	0.778122	0.41194	T	0.044733476	0.07203	0.056508917	0.10109	0.044733476	0.07202	0.056508917	0.10109	-4.255	0.27541	T	.	.	0.079	0.07318	B	.;.	.;.	2.732833	0.35776	19.99	0.92279917450536908	0.21665	0.85823	0.45000	D	AEFDGBHCI	0.383545	0.46501	N	-0.436260273482674	0.24208	1.305536	-0.307186630873374	0.27865	1.549355	0.999999917431857	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	2.97	2.97	0.33479	0.789000	0.26547	3.189000	0.36694	0.524000	0.24156	0.834000	0.30193	1.000000	0.68203	0.991000	0.66497	0.0:0.8766:0.0:0.1234	7.794	0.28302	976	0.04745	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003115	0.000000	0.006812	0.000000	0.000000	0.000000	0.003086	0.000000	0.02632	779.33	36	chr19	2039747	.	C	T	779.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.966;DP=699;ExcessHet=0;FS=0.972;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.37;ReadPosRankSum=2.67;SOR=0.882	GT:AD:DP:GQ:PL	0/1:31,32:63:99:793,0,793	18	0	1	0
chr19	3772012	3772015	TGTG	-	splicing	RAX2	.	.	.	Cone-rod dystrophy 11, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1052305325	3.944e-05	0.0002	5.577e-05	2.488e-05	0.0003	2.366e-05	1.876e-05	9.064e-05	4.822e-05	0.0003	0	8.887e-05	0	9.016e-05	0	3.52e-05	4.694e-05	0	2.774e-05	3.323e-05	4.052e-05	1.425e-05	5.418e-05	8.48e-06	5.37e-06	8.98e-06	3.36e-06	5.418e-05	0	0	0	0	0	0	3.014e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02778	68.18	6	chr19	3772011	.	CTGTG	C	68.18	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-0.967;DP=108;ExcessHet=0;FS=0;InbreedingCoeff=-0.0715;MLEAC=1;MLEAF=0.028;MQ=60;MQRankSum=0;QD=22.73;ReadPosRankSum=0.967;SOR=0.223	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1,2:3:36:0|1:3772011_CTGTG_C:81,0,36:3772011	17	0	1	1
chr19	4294605	4294605	C	T	exonic	TMIGD2	.	nonsynonymous SNV	TMIGD2:NM_001308232:exon3:c.G164A:p.R55H,TMIGD2:NM_001169126:exon4:c.G524A:p.R175H,TMIGD2:NM_144615:exon4:c.G524A:p.R175H	.	425	1093	4	0	0	4	0.00182648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.0211141025595	0.0002	0.000399361	0.0002	0.0002	0	0.0020	0	3.075e-05	0	0.0002	0.000194	30	154602	rs370727587	7.749e-05	8.072e-05	8.732e-05	6.755e-05	0.0012	6.548e-05	6.151e-05	0.0009	0.0008	6.003e-05	0	0	0.0012	0	0.0004	4.053e-05	0.0002	8.152e-05	0.0001	0.0001	0.0001	0.0001	0.0025	9.745e-05	8.259e-05	0.0015	0.0012	7.223e-05	0	0	0	0.0025	0	0	4.412e-05	0.0009	0.0002	0.028	0.46129	D	0.038	0.51421	D	0.005	0.12996	B	0.001	0.04355	B	.	.	.	.	0.999996	0.08975	N	0.805	0.20218	L	1.01	0.41058	T	-2.08	0.47514	N	0.276	0.36464	-1.0154	0.25207	T	0.051	0.21572	T	9	0.012134492	0.00262	T	0.021114	0.43839	T	0.012	0.01476	.	.	0.255777322467	0.25185	0.29312722372943134	0.29225	0.24130682908	0.26655	0.283466339111	0.07981	T	0.005081	0.21965	T	-0.603557	0.00139	T	-0.638791	0.09758	T	0.0219347887350715	0.00901	T	0.553245	0.19112	T	0.040501945	0.05794	0.04259317	0.05107	0.040501945	0.05794	0.04259317	0.05107	-5.772	0.44330	T	.	.	0.093	0.20780	B	.;.;.	.;.;.	1.285822	0.16863	12.81	0.99378930065963134	0.61803	0.04332	0.09892	N	AEFDBI	0.055592	0.10208	N	-1.16922543541366	0.05471	0.2494904	-1.23807113357386	0.05311	0.2526981	1.18981516122139E-5	0.02871	0.497415	0.19182	0	0.59043	0.45803	0	0.550215	0.18615	0	0.542086	0.14980	0	.	.	2.08	-0.427	0.11696	0.024000	0.13447	-1.782000	0.04736	-0.267000	0.06790	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.2599:0.5708:0.0:0.1693	2.889	0.05322	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	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.05263	2037.81	33	chr19	4294605	.	C	T	2037.81	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.914;DP=764;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=28.7;ReadPosRankSum=-0.391;SOR=0.363	GT:AD:DP:GQ:PL	1/1:1,70:71:99:2065,170,0	18	1	0	0
chr19	4497975	4497975	G	A	exonic	HDGFL2	.	nonsynonymous SNV	HDGFL2:NM_001001520:exon11:c.G1346A:p.R449Q,HDGFL2:NM_001348169:exon11:c.G1418A:p.R473Q,HDGFL2:NM_032631:exon11:c.G1346A:p.R449Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.0155081712371	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs557632925	1.212e-05	1.368e-05	1.126e-05	1.3e-05	6.293e-05	7.38e-06	6.04e-06	2.438e-05	1.535e-05	6.276e-05	2.781e-05	0	0	0	0	7.402e-06	1.719e-05	6.293e-05	1.969e-05	1.968e-05	1.284e-05	2.685e-05	0.0002	5.24e-06	2.45e-06	7.97e-06	2.98e-06	4.809e-05	0	0	0	0	0	0	0	0	0.0002	.	.	.	0.334	0.19073	T	0.997	0.70673	D	0.953	0.69275	D	0.002538	0.36389	N	0.221418	0.909779	0.36380	D	2.47	0.71715	M	.	.	.	.	.	.	0.392	0.44474	-0.9233	0.45098	T	0.144	0.46623	T	10	0.21478143	0.38011	T	0.015508	0.36282	T	.	.	.	.	0.223474106383	0.21959	0.2685648486137788	0.26769	.	.	0.454678654671	0.32583	T	0.016961	0.13922	T	-0.170011	0.25233	T	-0.28635	0.46149	T	0.908202588558197	0.56272	D	0.840516	0.51562	T	0.09563022	0.22510	0.11463521	0.27673	0.09563022	0.22509	0.11463521	0.27672	-4.852	0.35191	T	.	.	0.154	0.35540	B	.;.	.;.	4.684646	0.75006	26.3	0.99762179773994564	0.85172	0.98001	0.78774	D	AEFBI	0.624184	0.60785	D	0.425421552830759	0.62825	4.50486	0.436928627816568	0.63881	4.631036	0.209268397029742	0.18219	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.88	4.88	0.63131	6.768000	0.74775	11.630000	0.93694	0.665000	0.62972	0.995000	0.38783	1.000000	0.68203	0.878000	0.41950	0.0:0.0:1.0:0.0	13.514	0.60984	934	0.15400	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	2791.81	33	chr19	4497975	.	G	A	2791.81	.	AC=2;AF=0.053;AN=38;DP=727;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=29.39;SOR=0.999	GT:AD:DP:GQ:PL	1/1:0,95:95:99:2819,285,0	18	1	0	0
chr19	6718099	6718099	T	A	exonic	C3	.	nonsynonymous SNV	C3:NM_000064:exon4:c.A499T:p.I167F	C3 deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1967570	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.455	0.289071917161	.	.	1.648e-05	0	0	0	0.0002	0	0	6.057e-05	1.29e-05	2	154602	rs779750426	3.283e-05	3.283e-05	2.178e-05	4.4e-05	0.0002	2.543e-05	2.249e-05	0.0002	0.0001	0	0	0	0	0.0002	0	1.439e-05	3.311e-05	0.0002	3.944e-05	3.94e-05	5.141e-05	2.691e-05	0.0002	1.716e-05	1.13e-05	4.88e-06	1.83e-06	0	0	6.55e-05	0	0	9.418e-05	0	2.94e-05	0.0005	0.0002	0.477	0.08310	T	0.592	0.08161	T	0.005	0.12996	B	0.044	0.24394	B	0.000000	0.84330	D	0.000000	0.984919	0.40210	D	1.525	0.38595	L	-1.05	0.76690	T	-1.81	0.42575	N	0.485	0.51940	-0.5760	0.65776	T	0.337	0.70363	T	10	0.3123721	0.48698	T	0.289072	0.90499	D	0.455	0.75415	.	.	0.879540540865	0.87836	0.9165104319855081	0.91626	0.944348631935	0.72353	0.425659716129	0.28614	T	0.156367	0.49851	T	-0.0890948	0.38225	T	-0.184227	0.56129	T	0.0842874348163605	0.10527	T	0.682432	0.29103	T	0.52624434	0.68616	0.22701885	0.47698	0.52624434	0.68617	0.22701885	0.47697	-2.644	0.06845	T	0.1952634796528117	0.25753	0.145	0.31956	B	.	.	1.757482	0.22356	15.59	0.50160754936777685	0.04335	0.15278	0.18833	N	AEFDBCI	0.404317	0.47765	N	-0.497750201984092	0.22155	1.180963	-0.448325008436663	0.23596	1.287636	0.999996774239227	0.74766	0.580535	0.33130	0	0.578056	0.33634	0	0.584781	0.30282	0	0.604944	0.38103	0	.	.	4.56	4.56	0.55644	-0.057000	0.11726	1.374000	0.25980	-0.211000	0.08354	0.000000	0.06391	1.000000	0.68203	0.389000	0.26536	0.1851:0.0:0.0:0.8149	7.846	0.28586	923	0.18507	Alpha-2-macroglobulin, 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	.	.	.	.	.	.	.	.	0.05263	1106.81	46	chr19	6718099	.	T	A	1106.81	.	AC=2;AF=0.053;AN=38;DP=711;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=28.38;SOR=1.236	GT:AD:DP:GQ:PL	1/1:0,39:39:99:1134,117,0	18	1	0	0
chr19	7141715	7141715	C	T	exonic	INSR	.	nonsynonymous SNV	INSR:NM_001079817:exon12:c.G2608A:p.V870M,INSR:NM_000208:exon13:c.G2644A:p.V882M	Diabetes mellitus, insulin-resistant, with acanthosis nigricans;Hyperinsulinemic hypoglycemia, familial, 5, Autosomal dominant;Leprechaunism, Autosomal recessive;Rabson-Mendenhall syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.367	0.118642374832	.	0.000199681	1.648e-05	0	0	0.0001	0	0	0	6.059e-05	1.94e-05	3	154602	rs565092654	8.893e-06	8.893e-06	8.167e-06	9.626e-06	5.038e-05	4.96e-06	3.82e-06	9.24e-06	4.56e-06	0	0	0	5.038e-05	0	0	7.194e-06	0	3.478e-05	3.939e-05	3.937e-05	2.57e-05	5.371e-05	0.0006	1.714e-05	1.129e-05	0.0002	9.003e-05	0	0	0	0	0.0006	0	0	0	0	0.0006	0.054	0.38633	T	0.04	0.50809	D	0.977	0.59675	D	0.571	0.56482	P	0.046687	0.23415	U	0.206927	0.999409	0.46935	D	1.89	0.50145	L	-1.15	0.77964	T	-1.1	0.28497	N	0.428	0.47208	-0.0329	0.81569	T	0.489	0.80555	T	10	0.27104798	0.44640	T	0.118642	0.79874	D	0.367	0.68670	0.426	0.47185	0.870855217803	0.86959	0.46534526062825715	0.46453	1.80745962536	0.91753	0.684474825859	0.64912	T	0.570138	0.85752	D	-0.115358	0.33884	T	-0.234352	0.51349	T	0.639685255876841	0.38024	D	0.947805	0.79866	D	0.21843031	0.44351	0.11946312	0.28834	0.21843031	0.44351	0.11946312	0.28833	-10.563	0.77351	D	0.2762500625625828	0.37079	0.752	0.75136	P	.;.	.;.	4.192519	0.63207	24.6	0.99910356019126723	0.98022	0.75397	0.36914	D	AEFBI	0.159985	0.28586	N	0.547491363122131	0.69928	5.427469	0.552027902958785	0.71539	5.670196	0.103998894938437	0.16462	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.491896	0.07777	0	.	.	5.62	4.39	0.52211	1.961000	0.40056	3.122000	0.36404	0.599000	0.40250	0.960000	0.33603	0.997000	0.33255	0.626000	0.32052	0.0:0.9067:0.0:0.0933	12.745	0.56652	923	0.18507	.;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	.	.	.	.	.	.	.	.	0.02632	2149.33	34	chr19	7141715	.	C	T	2149.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.23;DP=815;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.81;ReadPosRankSum=-0.87;SOR=0.713	GT:AD:DP:GQ:PL	0/1:97,85:182:99:2163,0,2317	18	0	1	0
chr19	7610885	7610885	C	T	exonic	CAMSAP3	.	nonsynonymous SNV	CAMSAP3:NM_020902:exon8:c.C1003T:p.P335S,CAMSAP3:NM_001080429:exon10:c.C1084T:p.P362S	.	421	1094	7	0	0	7	0.00318907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	.	0.0002	0.0159744	0.0076	0.0013	0.0002	0.0602	0	9.46e-05	0.0074	0.0262	0.0067011	1036	154602	rs3745358	0.0031	0.0031	0.0026	0.0035	0.0558	0.0030	0.0030	0.0539	0.0531	0.0005	9.213e-05	4.008e-05	0.0558	0	0.0013	5.98e-05	0.0062	0.0211	0.0030	0.0031	0.0025	0.0036	0.0550	0.0028	0.0027	0.0497	0.0477	0.0011	0	0.0006	0	0.0550	0	0	4.41e-05	0.0038	0.0232	0.35	0.12305	T	0.783	0.04330	T	0.272	0.90584	B	0.046	0.88582	B	0.313675	0.14389	N	0.697893	0.784986	0.29291	N	1.905	0.50856	L	2.43	0.15261	T	-1.84	0.44471	N	0.27	0.30574	-1.1510	0.00995	T	0.011	0.04321	T	10	0.0021303594	0.00031	T	.	.	.	0.064	0.18567	.	.	0.464507588428	0.46075	0.36517814361663115	0.36431	1.63092040909	0.89220	0.393068999052	0.24102	T	0.021074	0.16473	T	-0.590378	0.00167	T	-0.577557	0.14764	T	0.020275108852276	0.00727	T	0.827217	0.49094	T	0.08112723	0.18626	0.10154524	0.24314	0.08112723	0.18626	0.10154524	0.24313	-5.224	0.39185	T	.	.	0.081	0.09675	B	.;.	.;.	2.809671	0.36980	20.4	0.9947158466317868	0.66365	0.97265	0.73672	D	AEFBI	0.488447	0.52677	N	0.180999492937922	0.50288	3.220185	0.229352617458701	0.51484	3.330418	0.626839153823507	0.21933	0.695654	0.57023	0	0.588066	0.40923	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	5.31	5.31	0.75063	0.832000	0.27143	7.427000	0.58761	0.585000	0.30472	0.095000	0.22689	1.000000	0.68203	0.122000	0.19250	0.0:1.0:0.0:0.0	14.482	0.67169	856	0.34373	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.003788	0.02632	984.33	33	chr19	7610885	.	C	T	984.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.348;DP=738;ExcessHet=0;FS=2.102;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.69;ReadPosRankSum=-0.804;SOR=0.441	GT:AD:DP:GQ:PL	0/1:29,38:67:99:998,0,773	18	0	1	0
chr19	7850048	7850048	C	T	exonic	EVI5L	.	nonsynonymous SNV	EVI5L:NM_001159944:exon6:c.C679T:p.R227W,EVI5L:NM_145245:exon6:c.C679T:p.R227W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.465	0.0381608933378	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.378e-06	4.104e-06	1.369e-06	1.387e-06	1.806e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.806e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.55	0.93268	H	2.74	0.11730	T	-7.19	0.94196	D	0.868	0.86511	-0.8794	0.49809	T	0.123	0.42568	T	10	0.8449975	0.83663	D	0.038161	0.58054	D	0.465	0.76089	0.704	0.84054	0.752610168554	0.75037	0.7970850328052206	0.79661	2.17757054016	0.95547	0.907796859741	0.97257	D	0.385923	0.74720	T	0.22978	0.76701	D	0.0922869	0.76398	D	0.994768381118774	0.86260	D	0.997164	0.98892	D	0.69529104	0.77799	0.6027908	0.76918	0.69529104	0.77801	0.6027908	0.76919	-12.887	0.88892	D	.	.	0.953	0.88816	P	.;.;.	.;.;.	5.938241	0.94122	33	0.99916085268159271	0.98379	0.90394	0.51535	D	AEFDBI	0.725478	0.67445	D	0.559875896586434	0.70687	5.538055	0.409624121824601	0.62163	4.427286	0.302275418444826	0.19201	0.660377	0.49826	0	0.694456	0.67091	0	0.645312	0.48771	0	0.699875	0.68795	0	.	.	4.13	4.13	0.47661	2.525000	0.45258	3.946000	0.40638	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.869000	0.41347	0.2159:0.7841:0.0:0.0	9.220	0.36532	952	0.10565	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	.	.	.	.	.	.	.	.	0.02632	1264.33	35	chr19	7850048	.	C	T	1264.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.334;DP=730;ExcessHet=0;FS=0.751;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.64;ReadPosRankSum=-0.021;SOR=0.693	GT:AD:DP:GQ:PL	0/1:46,54:100:99:1278,0,1044	18	0	1	0
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	.	.	.	.	.	.	.	.	0.3125	750.05	37	chr19	7871678	.	G	C	750.05	.	AC=10;AF=0.313;AN=32;BaseQRankSum=-3.804;DP=1749;ExcessHet=6.9875;FS=186.672;InbreedingCoeff=-0.429;MLEAC=11;MLEAF=0.344;MQ=60;MQRankSum=0;QD=0.77;ReadPosRankSum=1.13;SOR=10.928	GT:AD:DP:GQ:PL	0/1:68,22:90:17:17,0,1543	6	0	10	3
chr19	8087891	8087891	C	T	exonic	FBN3	.	nonsynonymous SNV	FBN3:NM_001321431:exon53:c.G6553A:p.E2185K,FBN3:NM_032447:exon53:c.G6553A:p.E2185K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.146	0.027501744414	7.7e-05	.	2.471e-05	0	8.637e-05	0	0	1.499e-05	0	6.056e-05	1.94e-05	3	154602	rs367815393	4.104e-06	4.104e-06	2.722e-06	5.5e-06	2.319e-05	1.48e-06	9.7e-07	3.85e-06	1.44e-06	0	2.236e-05	0	0	0	0	2.698e-06	0	2.319e-05	1.314e-05	1.313e-05	0	2.691e-05	0.0004	2.18e-06	8.2e-07	7.285e-05	3.027e-05	0	0	0	0	0	0	0	0	0	0.0004	0.291	0.14945	T	0.289	0.21078	T	0.1	0.25713	B	0.036	0.22909	B	0.002727	0.36034	U	0.238322	0.999804	0.20292	N	0.165	0.08973	N	-2.25	0.87272	D	-0.69	0.19720	N	0.242	0.29429	-0.7460	0.58144	T	0.296	0.66754	T	10	0.22917491	0.39840	T	0.027502	0.50302	D	0.146	0.38789	.	.	0.620428437143	0.61735	0.5949054939349196	0.59420	0.218754404323	0.24414	0.373306930065	0.21305	T	0.09523	0.39579	T	-0.203825	0.20254	T	-0.327903	0.41703	T	0.0608484707772732	0.07302	T	0.725427	0.33942	T	0.026200097	0.01647	0.03656437	0.03128	0.026200097	0.01646	0.03656437	0.03128	-8.585	0.64990	D	.	.	0.075	0.05404	B	.;.;.	.;.;.	1.222827	0.16170	12.36	0.9890790743878829	0.48308	0.06532	0.12544	N	AEFBI	0.054627	0.09948	N	-0.878710058323159	0.11351	0.547268	-0.950215988577022	0.10918	0.5530153	5.35925802081802E-4	0.07248	0.732398	0.92422	0	0.573888	0.26702	0	0.743671	0.96076	0	0.613276	0.41899	0	.	.	4.52	-1.73	0.07646	0.770000	0.26280	.	.	-0.238000	0.07553	0.001000	0.13787	0.000000	0.08366	0.053000	0.15439	0.2541:0.301:0.1081:0.3368	0.725	0.00886	754	0.51307	EGF-like calcium-binding domain|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like domain|EGF-like calcium-binding domain|EGF-like 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	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1590.33	39	chr19	8087891	.	C	T	1590.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.23;DP=829;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.2;ReadPosRankSum=0.607;SOR=0.707	GT:AD:DP:GQ:PL	0/1:49,63:112:99:1604,0,1094	18	0	1	0
chr19	8888803	8888803	G	A	exonic	MUC16	.	stopgain	MUC16:NM_024690:exon56:c.C40696T:p.Q13566X	.	387	1065	65	0	5	70	0.0296128	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs749709179	2.751e-06	0.0003	1.368e-06	4.147e-06	2.346e-05	6.4e-07	4.3e-07	3.89e-06	1.46e-06	0	0	0	0	1.892e-05	0	9.032e-07	0	2.346e-05	0.0003	0.0078	0.0003	0.0003	0.0007	0.0003	0.0002	0.0003	0.0002	0.0004	0	0.0002	0.0003	0.0006	0.0003	0	0.0003	0.0015	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.853	0.84922	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.382006	0.88838	D	0.310949	0.88697	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	8.510432	0.97656	37	0.99651539778950882	0.77317	0.04167	0.09661	N	AEFDBI	0.050545	0.08845	N	0.108967690324694	0.46882	2.921777	-0.235756191989301	0.30265	1.702583	7.40119793528929E-5	0.04552	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	3.48	1.01	0.19044	-1.404000	0.02601	.	.	-0.183000	0.09960	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.0:0.0:0.5377:0.4623	7.596	0.27215	952	0.10565	SEA domain|SEA domain|SEA 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	.	.	.	.	.	.	.	.	0.1579	8786.25	558	chr19	8888803	.	G	A	8786.25	.	AC=6;AF=0.158;AN=38;BaseQRankSum=-0.756;DP=9279;ExcessHet=2.0135;FS=1.656;InbreedingCoeff=-0.2042;MLEAC=6;MLEAF=0.158;MQ=57.33;MQRankSum=-6.204;QD=3;ReadPosRankSum=1.62;SOR=0.555	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:467,92:559:99:0|1:8888803_G_A:2008,0,18663:8888803	13	0	6	0
chr19	8888826	8888826	T	0	exonic	MUC16	.	.	.	.	415	770	176	0	161	337	0.102564	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4474	423.41	466	chr19	8888826	.	T	*	423.41	.	AC=17;AF=0.447;AN=38;BaseQRankSum=2.69;DP=7860;ExcessHet=48.2876;FS=8.285;InbreedingCoeff=-1;MLEAC=17;MLEAF=0.447;MQ=57.63;MQRankSum=-9.46;QD=0.05;ReadPosRankSum=0.739;SOR=1.296	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:337,61:454:99:0|1:8888826_T_*:1547,0,13967:8888826	2	0	17	0
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	.	.	.	.	.	.	.	.	0.3684	3536.2	316	chr19	8900017	.	C	G	3536.2	.	AC=14;AF=0.368;AN=38;BaseQRankSum=0.263;DP=4309;ExcessHet=17.0548;FS=3.59;InbreedingCoeff=-0.555;MLEAC=14;MLEAF=0.368;MQ=58.99;MQRankSum=-14.78;QD=0.96;ReadPosRankSum=1.67;SOR=1.126	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:279,28:307:99:0|1:8900009_C_T:336,0,11631:8900009	5	0	14	0
chr19	9415667	9415667	C	A	exonic	ZNF266	.	nonsynonymous SNV	ZNF266:NM_001370390:exon7:c.G191T:p.S64I,ZNF266:NM_001370379:exon8:c.G191T:p.S64I,ZNF266:NM_001370380:exon8:c.G191T:p.S64I,ZNF266:NM_001370385:exon8:c.G392T:p.S131I,ZNF266:NM_001370388:exon8:c.G191T:p.S64I,ZNF266:NM_001370396:exon8:c.G191T:p.S64I,ZNF266:NM_001370376:exon9:c.G191T:p.S64I,ZNF266:NM_001370381:exon9:c.G191T:p.S64I,ZNF266:NM_001370382:exon9:c.G191T:p.S64I,ZNF266:NM_001370384:exon9:c.G392T:p.S131I,ZNF266:NM_001370389:exon9:c.G191T:p.S64I,ZNF266:NM_001370391:exon9:c.G191T:p.S64I,ZNF266:NM_001370398:exon9:c.G191T:p.S64I,ZNF266:NM_001370399:exon9:c.G191T:p.S64I,ZNF266:NM_001271314:exon10:c.G191T:p.S64I,ZNF266:NM_001370374:exon10:c.G392T:p.S131I,ZNF266:NM_001370375:exon10:c.G392T:p.S131I,ZNF266:NM_001370383:exon10:c.G191T:p.S64I,ZNF266:NM_001370386:exon10:c.G191T:p.S64I,ZNF266:NM_001370387:exon10:c.G191T:p.S64I,ZNF266:NM_001370392:exon10:c.G191T:p.S64I,ZNF266:NM_001370393:exon10:c.G191T:p.S64I,ZNF266:NM_001370394:exon10:c.G191T:p.S64I,ZNF266:NM_001370395:exon10:c.G191T:p.S64I,ZNF266:NM_001370400:exon10:c.G191T:p.S64I,ZNF266:NM_006631:exon10:c.G191T:p.S64I,ZNF266:NM_001370377:exon11:c.G191T:p.S64I,ZNF266:NM_001370378:exon11:c.G191T:p.S64I,ZNF266:NM_001370397:exon11:c.G191T:p.S64I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	0.000700161929862	.	.	8.238e-06	0	0	0	0	0	0	6.056e-05	6.5e-06	1	154602	rs777919998	2.74e-06	2.736e-06	1.363e-06	4.131e-06	3.479e-05	6.4e-07	4.3e-07	9.24e-06	4.56e-06	0	0	0	0	0	0	0	1.659e-05	3.479e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.194	0.28120	T	0.01	0.15535	B	0.006	0.12133	B	.	.	.	.	1	0.08975	N	1.265	0.31966	L	3.08	0.08460	T	.	.	.	0.178	0.19325	-0.9384	0.42869	T	0.012	0.04510	T	9	0.060538888	0.07451	T	7.0E-4	0.00435	T	.	.	0.307	0.27806	0.12205267543	0.11705	.	.	0.0305089366149	0.03155	0.227612167597	0.01796	T	0.054071	0.29621	T	-0.38423	0.02929	T	-0.692842	0.06226	T	0.0321038602027739	0.02323	T	0.105789	0.01041	T	0.034206435	0.03795	0.046141826	0.06366	0.034206435	0.03794	0.046141826	0.06366	-5.602	0.42810	T	.	.	0.126	0.26762	B	.;.;.;.;.	.;.;.;.;.	-0.379561	0.02290	0.240	0.65952986406322001	0.07919	0.00738	0.03085	N	AEFDBI	0.027599	0.02284	N	-1.47157855053401	0.02053	0.09023989	-1.60571654543827	0.01621	0.07354773	0.0506333644033441	0.14846	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	3.04	-6.08	0.01969	-3.347000	0.00558	.	.	-0.191000	0.09375	0.000000	0.06391	0.000000	0.08366	0.058000	0.15825	0.2889:0.2702:0.1434:0.2976	0.235	0.00172	952	0.10565	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1406.33	33	chr19	9415667	.	C	A	1406.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.165;DP=767;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.23;ReadPosRankSum=-2.929;SOR=0.648	GT:AD:DP:GQ:PL	0/1:55,60:115:99:1420,0,1266	18	0	1	0
chr19	10089677	10089677	G	C	exonic	SHFL	.	nonsynonymous SNV	SHFL:NM_001308277:exon4:c.G216C:p.K72N,SHFL:NM_018381:exon4:c.G216C:p.K72N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.00835452894133	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.23e-05	0.0007	0.0001	8.388e-05	0.0001	7.937e-05	7.411e-05	9.867e-05	9.266e-05	3.012e-05	0	3.881e-05	2.554e-05	0	0	0.0001	5.025e-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	0.096	0.31088	T	0.144	0.92824	T	.	.	.	.	.	.	0.602986	0.10940	N	0.778374	0.969116	0.25769	N	.	.	.	.	.	.	-2.3	0.51157	N	0.451	0.54409	-1.0203	0.23616	T	0.048	0.20355	T	9	0.11713013	0.22113	T	0.008355	0.22105	T	0.060	0.17295	0.149	0.05238	0.257342827899	0.25358	0.7671544330350812	0.76664	1.27764482569	0.82445	.	.	.	.	.	.	-0.228678	0.16824	T	-0.566257	0.15794	T	0.318100303411484	0.25744	T	0.765923	0.40183	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.583	0.81635	P	.;.;.;.;.	.;.;.;.;.	0.889740	0.12634	9.157	0.94812326393072077	0.25574	0.63549	0.32124	D	AEFDBCI	0.495824	0.53103	N	-0.944719638248053	0.09811	0.4660345	-0.912159081172477	0.11806	0.6037553	0.999561478255562	0.40425	0.706298	0.61202	0	0.697927	0.68747	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.07	-3.02	0.05116	-0.259000	0.08742	0.264000	0.16579	-0.855000	0.02678	0.979000	0.35152	0.967000	0.29559	0.342000	0.25479	0.5074:0.0:0.4926:0.0	8.877	0.34512	883	0.28872	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1389	166.94	111	chr19	10089677	.	G	C	166.94	.	AC=5;AF=0.139;AN=36;BaseQRankSum=-3.657;DP=1634;ExcessHet=1.3;FS=278.301;InbreedingCoeff=-0.1758;MLEAC=5;MLEAF=0.139;MQ=60;MQRankSum=0;QD=0.39;ReadPosRankSum=-0.038;SOR=11.394	GT:AD:DP:GQ:PL	0/1:60,22:82:10:10,0,1312	13	0	5	1
chr19	14055061	14055061	C	A	exonic	PALM3	.	nonsynonymous SNV	PALM3:NM_001367327:exon5:c.G413T:p.S138I,PALM3:NM_001145028:exon7:c.G611T:p.S204I	.	414	1064	40	4	0	48	0.0220588	.	.	.	716206	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.049	.	0.0107	0.00339457	0.0091	0.0047	0.0103	0	0	0.0090	0.0260	0.0113	0.0023544	364	154602	rs185854216	0.0103	0.0099	0.0102	0.0105	0.0119	0.0102	0.0101	0.0114	0.0114	0.0016	0.0039	0.0031	2.798e-05	0.0025	0.0107	0.0116	0.0099	0.0119	0.0068	0.0069	0.0075	0.0061	0.0118	0.0065	0.0063	0.0112	0.0109	0.0019	0	0.0052	0.0017	0	0.0011	0.0204	0.0118	0.0095	0.0073	0.002	0.72154	D	0.197	0.59732	T	0.076	0.24253	B	0.065	0.27321	B	0.004116	0.34102	N	0.177154	1	0.08975	N	0.69	0.16971	N	1.48	0.31731	T	-2.42	0.53096	N	0.075	0.04913	-1.0299	0.20487	T	0.028	0.12058	T	10	0.0059589446	0.00134	T	.	.	.	0.049	0.13647	.	.	0.119812018005	0.11559	0.08867927874923093	0.08800	.	.	0.354741573334	0.18618	T	0.003281	0.33640	T	-0.555945	0.00268	T	-0.560965	0.16287	T	0.0122600926185964	0.00198	T	0.657134	0.26688	T	0.16299227	0.36412	0.13598062	0.32542	0.16299227	0.36411	0.13598062	0.32541	-5.451	0.41407	T	.	.	0.098	0.16143	B	.;.	.;.	0.967823	0.13449	9.956	0.97078868628090398	0.32272	0.04107	0.09577	N	AEFDBI	0.109182	0.21694	N	-0.942614458466477	0.09859	0.4685076	-0.96274404192693	0.10628	0.5365172	7.66947260176222E-4	0.07776	0.695654	0.57023	0	0.547309	0.14657	0	0.723109	0.80598	0	0.586402	0.36253	0	.	.	4.69	1.0	0.18999	-0.263000	0.08695	0.014000	0.13486	0.469000	0.21855	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.1793:0.4251:0.3956:0.0	6.761	0.22729	824	0.40336	.;.	.	.	.	.	.	Likely benign	0	0	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	0.014493	0.005556	0.014599	0.003759	0.071429	0.000000	0.023364	0.017544	0.07895	3451.79	39	chr19	14055061	.	C	A	3451.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-1.309;DP=889;ExcessHet=0.3672;FS=4.918;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=13.07;ReadPosRankSum=1.34;SOR=0.475	GT:AD:DP:GQ:PL	0/1:56,47:103:99:1010,0,1496	16	0	3	0
chr19	14695076	14695076	C	G	exonic	ZNF333	.	nonsynonymous SNV	ZNF333:NM_001300912:exon3:c.C70G:p.R24G,ZNF333:NM_001352244:exon3:c.C70G:p.R24G,ZNF333:NM_032433:exon3:c.C70G:p.R24G	.	428	1071	22	1	0	24	0.0110803	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	.	0.0048	0.00179712	0.0051	0.0012	0.0030	0	0.0012	0.0070	0.0044	0.0059	0.0050064	774	154602	rs61995698	0.0054	0.0054	0.0052	0.0056	0.0069	0.0053	0.0052	0.0062	0.0060	0.0009	0.0024	0.0217	0	0.0016	0.0069	0.0055	0.0063	0.0066	0.0037	0.0037	0.0040	0.0035	0.0056	0.0035	0.0034	0.0051	0.0049	0.0008	0.0066	0.0019	0.0219	0	0.0010	0.0034	0.0055	0.0057	0.0056	0.063	0.36709	T	0.323	0.62352	T	0.001	0.07471	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	0.755	0.19153	N	4.6	0.01868	T	-0.34	0.12661	N	0.203	0.46086	-0.9369	0.43103	T	0.005	0.01651	T	9	0.0104111135	0.00232	T	.	.	.	0.026	0.05648	.	.	0.0611884634855	0.05136	0.17252882160459376	0.17172	0.385318713924	0.39823	0.195522025228	0.00338	T	0.00122	0.00717	T	-0.602352	0.00141	T	-0.635401	0.10008	T	0.0053354593183709	0.00058	T	0.844016	0.52772	T	0.040952135	0.05941	0.041216798	0.04634	0.040952135	0.05941	0.041216798	0.04634	-5.228	0.39225	T	.	.	0.185	0.56258	B	.;.;.	.;.;.	0.208017	0.05921	2.359	0.94935240856241476	0.25824	0.04830	0.10558	N	AEFDBHCI	0.041360	0.06278	N	-1.22139540723132	0.04691	0.2122363	-1.36471555759378	0.03635	0.1699831	0.00137244476311614	0.08487	0.732398	0.92422	0	0.709663	0.81188	0	0.743671	0.96076	0	0.636168	0.56350	0	.	.	2.24	-2.75	0.05564	-0.126000	0.10539	.	.	-0.182000	0.10109	0.000000	0.06391	0.000000	0.08366	0.017000	0.10941	0.0:0.3614:0.2075:0.4311	3.484	0.07175	952	0.10565	.;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	0.004532	0.005051	0.004076	0.000000	0.000000	0.000000	0.009146	0.003788	0.07895	3412.79	36	chr19	14695076	.	C	G	3412.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.362;DP=970;ExcessHet=0.3672;FS=0.852;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=10.47;ReadPosRankSum=0.384;SOR=0.75	GT:AD:DP:GQ:PL	0/1:62,40:102:99:949,0,1350	16	0	3	0
chr19	14840998	14840998	T	C	exonic	OR7A10	.	nonsynonymous SNV	OR7A10:NM_001005190:exon1:c.A880G:p.N294D	.	434	1074	13	1	0	15	0.00693481	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.165	0.0014457415687	0.0002	.	0.0004	0	0	0	0	0.0003	0.0011	0.0018	0.0003363	52	154602	rs144304833	0.0002	0.0002	0.0002	0.0002	0.0038	0.0002	0.0002	0.0026	0.0022	0	4.476e-05	0	0	0	0.0038	9.533e-05	0.0003	0.0016	0.0001	0.0001	0.0001	8.068e-05	0.0004	6.511e-05	5.322e-05	9.048e-05	7.012e-05	0	0	0.0001	0	0	0	0	0.0002	0.0005	0.0004	0.001	0.78490	D	0.001	0.83351	D	0.999	0.77913	D	0.974	0.73157	D	0.001146	0.40056	U	0.000000	0.998697	0.21979	N	4.34	0.98424	H	0.8	0.48769	T	-3.73	0.70920	D	0.505	0.53708	-0.5716	0.65951	T	0.401	0.75259	T	10	0.06936854	0.09942	T	0.001446	0.02164	T	0.165	0.42395	.	.	0.74740176769	0.74512	0.04333641262844622	0.04278	0.287481358781	0.31149	0.216082200408	0.01096	T	0.004738	0.04154	T	-0.439293	0.01306	T	-0.422805	0.30754	T	0.285706239119403	0.24411	T	0.865813	0.56549	D	0.88262904	0.89885	0.83496654	0.90509	0.88262904	0.89886	0.83496654	0.90509	-10.314	0.75770	D	.	.	0.436	0.61516	A	.;.	.;.	3.480016	0.48587	22.6	0.99582780277900851	0.73099	0.80349	0.40010	D	AEBI	0.315500	0.42005	N	0.352869814235809	0.58891	4.064262	0.0669491088574733	0.42898	2.602959	3.73846910783212E-4	0.06745	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.75	1.71	0.23429	2.304000	0.43315	.	.	0.571000	0.28931	0.959000	0.33545	0.997000	0.33255	0.343000	0.25501	0.0:0.1377:0.0:0.8623	6.025	0.18876	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.003788	0.02632	1165.33	34	chr19	14840998	.	T	C	1165.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.22;DP=738;ExcessHet=0;FS=1.754;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.27;ReadPosRankSum=1.35;SOR=0.894	GT:AD:DP:GQ:PL	0/1:52,43:95:99:1179,0,1461	18	0	1	0
chr19	15011213	15011213	G	T	exonic	CCDC105	.	nonsynonymous SNV	CCDC105:NM_173482:exon1:c.G388T:p.A130S	.	432	1076	12	2	0	16	0.00738007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.0218902079784	.	.	0.0014	0	0	0	0	0	0	0.0034	0.0001682	26	154602	rs758442019	0.0003	0.0003	0.0003	0.0004	0.0032	0.0003	0.0003	0.0020	0.0016	0	4.473e-05	4.913e-05	0	0	0.0032	0.0003	0.0006	0.0015	0.0001	0.0001	0.0001	0.0001	0.0006	8.675e-05	7.265e-05	0.0002	9.036e-05	0	0	0.0002	0	0	0	0.0034	0.0002	0	0.0006	0.075	0.34444	T	0.032	0.53426	D	0.979	0.59044	D	0.801	0.58220	P	0.030104	0.25356	N	0.257682	1	0.08975	N	2.48	0.72069	M	2.42	0.15376	T	-1.26	0.31778	N	0.512	0.54322	-1.1097	0.03096	T	0.064	0.26597	T	10	0.021319449	0.00508	T	0.02189	0.44718	T	0.035	0.08770	0.235	0.16457	0.539567288477	0.53609	0.21797501179695666	0.21713	1.10494106084	0.77866	0.803276479244	0.82464	D	0.003582	0.02990	T	-0.518897	0.00447	T	-0.523063	0.19986	T	0.0693420693064582	0.08559	T	0.592841	0.21881	T	0.10957923	0.25907	0.08887534	0.20749	0.10957923	0.25907	0.08887534	0.20748	-4.446	0.30176	T	.	.	0.135	0.29200	B	.	.	3.437366	0.47799	22.5	0.99412228519720924	0.63358	0.12472	0.17290	N	AEFDBIJ	0.071027	0.14123	N	0.182429317866329	0.50356	3.226339	0.0832029465231851	0.43703	2.666706	0.997490112875237	0.35680	0.623204	0.39778	0	0.573888	0.26702	0	0.378051	0.06126	2	0.613276	0.41899	0	.	.	3.77	2.72	0.31179	1.236000	0.32286	.	.	0.672000	0.70159	0.411000	0.26257	1.000000	0.68203	0.472000	0.28386	0.1394:0.0:0.8606:0.0	6.228	0.19929	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	0.003135	0.000000	0.001393	0.003012	0.000000	0.008929	0.006369	0.000000	0.02632	828.33	33	chr19	15011213	.	G	T	828.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.914;DP=717;ExcessHet=0;FS=0.983;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.58;ReadPosRankSum=1;SOR=0.507	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:27,34:61:99:0|1:15011213_G_T:842,0,955:15011213	18	0	1	0
chr19	17286648	17286655	GTGTGTGT	-	exonic	ANKLE1	.	frameshift deletion	ANKLE1:NM_001278444:exon8:c.1727_1734del:p.C588Ffs*34	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs1436580121	0.0015	0.0026	0.0016	0.0015	0.0441	0.0015	0.0014	0.0421	0.0412	0.0021	0.0441	0.0005	0.0029	6.04e-05	0.0004	0.0003	0.0019	0.0020	0.0058	0.0061	0.0050	0.0066	0.0508	0.0055	0.0053	0.0477	0.0465	0.0021	0	0.0508	0	0.0002	0	0	0.0001	0.0071	0.0023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2380.99	33	chr19	17286647	.	GGTGTGTGT	G	2380.99	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.11;DP=1028;ExcessHet=4.0268;FS=0.483;InbreedingCoeff=-0.2666;MLEAC=1;MLEAF=0.026;MQ=59.99;MQRankSum=0;QD=8.53;ReadPosRankSum=-0.257;SOR=0.754	GT:AD:DP:GQ:PL	0/1:15,22:38:99:783,0,729	18	0	1	0
chr19	18895967	18895967	C	T	exonic	CERS1	.	nonsynonymous SNV	CERS1:NM_021267:exon1:c.G106A:p.G36S,CERS1:NM_198207:exon1:c.G106A:p.G36S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.123442141438	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.42e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.174	0.22486	T	0.416	0.14284	T	0.455	0.36245	P	0.1	0.30674	B	.	.	.	.	1	0.20482	N	1.61	0.41143	L	1.52	0.30669	T	-0.58	0.17417	N	0.086	0.06322	-1.0330	0.19490	T	0.045	0.19316	T	9	0.11881295	0.22471	T	0.123442	0.80461	D	0.023	0.04649	0.396	0.42262	0.0846915920261	0.08053	.	.	.	.	0.854625880718	0.90311	D	0.292158	0.66489	T	-0.191499	0.22037	T	-0.512851	0.21021	T	0.116981841623783	0.14131	T	0.724828	0.33863	T	0.10785652	0.25503	0.07471046	0.16371	0.10785652	0.25502	0.07471046	0.16371	-4.183	0.26896	T	.	.	0.103	0.18950	B	.;.	.;.	2.881102	0.38127	20.7	0.99102147657549311	0.52496	0.11744	0.16834	N	AEFDBHCIJ	0.053038	0.09522	N	-0.716112824500645	0.15568	0.7857501	-0.773157020585659	0.15154	0.7955899	0.999999999533241	0.74766	0.72623	0.87236	0	0.578056	0.33634	0	0.594344	0.31042	0	0.554799	0.18163	0	.	.	3.22	0.996	0.18963	0.582000	0.23535	6.843000	0.56720	0.431000	0.20936	0.025000	0.20085	1.000000	0.68203	0.871000	0.41478	0.0:0.6968:0.0:0.3032	4.910	0.13168	929	0.16858	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05556	213.52	4	chr19	18895967	.	C	T	213.52	.	AC=2;AF=0.056;AN=36;BaseQRankSum=1.15;DP=124;ExcessHet=0.1259;FS=1.623;InbreedingCoeff=-0.0857;MLEAC=2;MLEAF=0.056;MQ=60;MQRankSum=0;QD=8.54;ReadPosRankSum=0.756;SOR=1.012	GT:AD:DP:GQ:PL	0/1:10,2:12:14:14,0,230	16	0	2	1
chr19	21383393	21383393	G	0	exonic	ZNF738	.	.	.	.	617	630	79	26	170	301	0.0941769	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1842	6047.41	76	chr19	21383393	.	G	*	6047.41	.	AC=7;AF=0.184;AN=38;BaseQRankSum=0.652;DP=1171;ExcessHet=0.6984;FS=2.485;InbreedingCoeff=0.0952;MLEAC=7;MLEAF=0.184;MQ=60;MQRankSum=0;QD=8.14;ReadPosRankSum=1.4;SOR=0.87	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,27:54:99:1|0:21383385_TAATTCATGCTGGAGAGAAACACTACAAATGTGAAAAATGTGGCAAAGATTTTAAACAGTCCTCACACCTTACTAAACATAAGAC_T:1943,872,1127:21383385	13	1	5	0
chr19	21809073	21809073	C	T	exonic	ZNF43	.	nonsynonymous SNV	ZNF43:NM_001256651:exon3:c.G769A:p.A257T,ZNF43:NM_001256654:exon3:c.G769A:p.A257T,ZNF43:NM_001256653:exon4:c.G991A:p.A331T,ZNF43:NM_003423:exon4:c.G964A:p.A322T,ZNF43:NM_001256650:exon6:c.G946A:p.A316T,ZNF43:NM_001256648:exon7:c.G946A:p.A316T,ZNF43:NM_001256649:exon7:c.G946A:p.A316T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.00271344121165	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1481808404	6.843e-07	6.841e-07	0	1.376e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	0.31532	T	0.144	0.34837	T	0.927	0.51527	P	0.665	0.52961	P	.	.	.	.	0.999995	0.08975	N	0.1	0.08449	N	5.62	0.00808	T	-2.27	0.50666	N	0.037	0.01274	-0.9021	0.47771	T	0.003	0.00897	T	9	0.09373763	0.16613	T	0.002713	0.05579	T	0.059	0.16972	0.359	0.36222	0.254244900254	0.25046	0.004721165058159347	0.00445	0.142893324552	0.16124	0.28569856286	0.08299	T	0.125619	0.45145	T	-0.339424	0.05427	T	-0.725335	0.04542	T	0.269097566981611	0.23708	T	0.0623938	0.00453	T	0.034248363	0.03807	0.07121124	0.15221	0.034248363	0.03806	0.07121124	0.15221	-6.469	0.50325	T	.	.	0.149	0.32874	B	.;.;.;.;.	.;.;.;.;.	1.319343	0.17233	13.04	0.98839824663012654	0.47102	0.00000	0.00017	N	AEFDBHCI	0.017374	0.00451	N	-0.763571002874205	0.14267	0.7093076	-0.981934705496515	0.10192	0.5117169	0.0021072840130889	0.09158	0.562547	0.31514	0	0.588015	0.36545	0	0.608884	0.39905	0	0.636168	0.56350	0	.	.	1.61	-0.821	0.10276	-0.430000	0.07043	.	.	0.292000	0.18798	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.207:0.2498:0.2047:0.3384	0.211	0.00145	988	0.01987	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1422.33	36	chr19	21809073	.	C	T	1422.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.534;DP=762;ExcessHet=0;FS=0.674;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.43;MQRankSum=2.19;QD=11.75;ReadPosRankSum=1.14;SOR=0.734	GT:AD:DP:GQ:PL	0/1:63,58:121:99:1436,0,1702	18	0	1	0
chr19	22181587	22181587	C	T	splicing	ZNF676	NM_001001411:exon3:c.131-1G>A	.	.	.	516	1001	5	0	0	5	0.00249128	1.0000	0.728	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0017	0.00159744	0.0026	0.0003	0.0046	0	0.0034	0.0030	0.0125	0.0010	0.0016429	254	154602	rs184813715	0.0019	0.0019	0.0018	0.0020	0.0046	0.0018	0.0018	0.0032	0.0027	9.921e-05	0.0025	0.0011	0	0.0035	0.0046	0.0020	0.0018	0.0005	0.0018	0.0018	0.0017	0.0019	0.0031	0.0017	0.0016	0.0024	0.0021	0.0003	0	0.0031	0.0012	0.0002	0.0039	0	0.0024	0.0033	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999997	0.58761	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.68482	0.00045	T	-0.760151	0.03107	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	3.195154	0.43431	21.7	0.62864659411788693	0.07072	0.00462	0.02227	N	AEFBI	.	.	.	-0.0607971461900368	0.39122	2.302013	-0.529025176563657	0.21367	1.155498	6.11641323339473E-6	0.01202	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0455939	0.04545	0.113	0.113	0.13937	-0.649000	0.05483	.	.	0.291000	0.18778	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	.	.	.	988	0.01987	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	292.33	39	chr19	22181587	.	C	T	292.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.55;DP=756;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=6.96;ReadPosRankSum=-1.365;SOR=0.773	GT:AD:DP:GQ:PL	0/1:30,12:42:99:306,0,789	18	0	1	0
chr19	22857489	22857489	T	C	exonic	ZNF723	.	nonsynonymous SNV	ZNF723:NM_001349726:exon4:c.T598C:p.C200R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.007e-06	8.206e-07	0	1.95e-06	1.449e-06	0	0	.	.	0	0	0	0	0	0	1.449e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1202032	0.22763	T	.	.	.	.	.	.	.	.	.	0.0018675312966726179	0.00172	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0148735	0.00082	T	0.24421991	0.47369	0.3249721	0.58417	0.24421991	0.47368	0.3249721	0.58416	-3.098	0.11273	T	.	.	0.083	0.09385	B	.	.	-0.173883	0.03226	0.540	0.34939964514358007	0.02165	0.00018	0.00208	N	AEFBCI	.	.	.	.	.	.	.	.	.	3.87582554208468E-6	0.01202	0.053691	0.00478	0	0.063388	0.01293	0	0.063197	0.01477	0	0.062806	0.01542	0	0.104135	0.22801	0.515	-1.03	0.09586	-0.256000	0.08778	.	.	-2.345000	0.00310	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.7153:0.0:0.2847	6.968	0.23814	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	.	.	.	.	.	.	.	.	0.02632	2742.33	33	chr19	22857489	.	T	C	2742.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.566;DP=933;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.67;ReadPosRankSum=-0.564;SOR=0.694	GT:AD:DP:GQ:PL	0/1:70,105:175:99:2756,0,1605	18	0	1	0
chr19	29610506	29610506	G	A	exonic	POP4	.	nonsynonymous SNV	POP4:NM_006627:exon3:c.G158A:p.R53H	.	424	1096	2	0	0	2	0.000911577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.0279846080629	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1259772679	1.849e-05	1.915e-05	1.771e-05	1.928e-05	0.0002	1.266e-05	1.085e-05	8.914e-05	7.076e-05	2.989e-05	0	0	0	0	0	1.08e-05	1.657e-05	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.196	0.37037	T	0.032	0.20242	B	0.003	0.08700	B	0.000001	0.62929	D	0.100354	0.999993	0.81001	D	1.25	0.31749	L	0.92	0.44461	T	.	.	.	0.416	0.45615	-0.7447	0.58211	T	0.263	0.63448	T	9	0.1786815	0.32965	T	0.027985	0.50729	D	.	.	0.3	0.26683	0.537635407634	0.53415	0.32996781185946616	0.32909	0.17223584331	0.19399	0.349305212498	0.17820	T	0.031378	0.22016	T	-0.318295	0.07039	T	-0.490435	0.23345	T	0.442631214857101	0.30526	T	0.876612	0.58915	D	0.1224703	0.28779	0.11638584	0.28097	0.1224703	0.28779	0.11638584	0.28096	-5.96	0.45943	T	.	.	0.109	0.25689	B	.;.;.	.;.;.	2.702554	0.35308	19.86	0.99797729130301804	0.88283	0.94202	0.60423	D	AEFDBCI	0.694030	0.65316	D	0.00646317057664405	0.42149	2.53414	0.154119616535908	0.47362	2.967465	0.999999943155733	0.74766	0.712529	0.81865	0	0.779548	0.99637	0	0.779548	0.98927	0	0.691587	0.68394	0	.	.	5.55	5.55	0.83298	5.202000	0.65004	3.377000	0.37975	0.598000	0.34611	1.000000	0.71638	1.000000	0.68203	0.294000	0.24357	0.0:0.0:1.0:0.0	18.850	0.92191	947	0.11584	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	959.33	33	chr19	29610506	.	G	A	959.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.399;DP=705;ExcessHet=0;FS=1.841;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.62;ReadPosRankSum=0.301;SOR=0.608	GT:AD:DP:GQ:PL	0/1:37,39:76:99:973,0,857	18	0	1	0
chr19	34196655	34196655	T	C	exonic	LSM14A	.	nonsynonymous SNV	LSM14A:NM_001114093:exon3:c.T307C:p.S103P,LSM14A:NM_001384420:exon3:c.T307C:p.S103P,LSM14A:NM_001384421:exon3:c.T307C:p.S103P,LSM14A:NM_001384423:exon3:c.T307C:p.S103P,LSM14A:NM_001384424:exon3:c.T307C:p.S103P,LSM14A:NM_001384425:exon3:c.T307C:p.S103P,LSM14A:NM_001384426:exon3:c.T307C:p.S103P,LSM14A:NM_001384427:exon3:c.T307C:p.S103P,LSM14A:NM_001384428:exon3:c.T307C:p.S103P,LSM14A:NM_001384429:exon3:c.T307C:p.S103P,LSM14A:NM_001384430:exon3:c.T25C:p.S9P,LSM14A:NM_001384435:exon3:c.T307C:p.S103P,LSM14A:NM_001384436:exon3:c.T307C:p.S103P,LSM14A:NM_015578:exon3:c.T307C:p.S103P	.	436	1063	22	1	0	24	0.0111628	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	.	0.0039	0.00299521	0.0037	0.0002	0.0018	0.0001	0.0009	0.0040	0.0022	0.0088	0.0037968	587	154602	rs149170773	0.0050	0.0050	0.0049	0.0050	0.0095	0.0049	0.0048	0.0090	0.0088	0.0007	0.0013	0.0034	7.58e-05	0.0007	0.0044	0.0053	0.0047	0.0095	0.0033	0.0033	0.0034	0.0032	0.0109	0.0031	0.0030	0.0085	0.0077	0.0009	0.0022	0.0016	0.0029	0.0002	0.0007	0	0.0053	0.0024	0.0109	0.075	0.35165	T	0.318	0.22223	T	0.006	0.61912	B	0.009	0.70027	B	0.000060	0.53742	D	0.171191	0.999982	0.58761	D	2.24	0.63355	M	1.56	0.46777	T	-2.07	0.51157	N	0.368	0.40963	-0.9647	0.38270	T	0.123	0.42505	T	10	0.008370787	0.00190	T	.	.	.	0.089	0.25827	.	.	0.488687234069	0.48499	0.45877763395615406	0.45795	1.51235230355	0.87267	0.583367943764	0.50560	T	0.012023	0.12415	T	-0.471249	0.00835	T	-0.442302	0.28552	T	0.0700592920184135	0.08660	T	0.887811	0.61653	D	0.3325327	0.55677	0.46197814	0.68760	0.3325327	0.55677	0.46197814	0.68760	-4.892	0.40003	T	.	.	0.121	0.30765	B	.;.;.;.	.;.;.;.	3.321970	0.45692	22.2	0.99853812900237782	0.93279	0.90422	0.51585	D	AEFGBI	0.546051	0.56031	D	0.100066636690499	0.46465	2.886484	0.184242584179069	0.48982	3.107181	0.999456602423443	0.39788	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.18	5.18	0.71140	1.477000	0.35039	6.020000	0.52779	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.928000	0.46473	0.0:0.0:0.0:1.0	15.324	0.73856	943	0.12886	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005061	0.000000	0.000000	0.008824	0.000000	0.008621	0.009434	0.011364	0.05263	2255.83	43	chr19	34196655	.	T	C	2255.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.31;DP=835;ExcessHet=0.119;FS=0.494;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.25;ReadPosRankSum=1.7;SOR=0.638	GT:AD:DP:GQ:PL	0/1:51,54:105:99:1240,0,1076	17	0	2	0
chr19	35720516	35720516	T	C	exonic	KMT2B	.	nonsynonymous SNV	KMT2B:NM_014727:exon3:c.T1169C:p.M390T	Dystonia 28, childhood-onset, Autosomal dominant	421	1076	25	0	0	25	0.0114837	.	.	.	1208549	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.000	.	0.0010	0.00479233	0.0087	0.0005	0	0	0.0015	0.0025	0.0092	0.0203	0.0017658	273	154602	rs191195577	0.0034	0.0033	0.0028	0.0041	0.0210	0.0033	0.0033	0.0202	0.0198	0.0005	0.0018	0.0034	2.798e-05	0.0004	0.0032	0.0025	0.0031	0.0210	0.0018	0.0018	0.0018	0.0019	0.0142	0.0017	0.0016	0.0115	0.0105	0.0005	0	0.0014	0.0012	0	0.0005	0.0034	0.0022	0.0038	0.0142	0.195	0.20759	T	0.463	0.12491	T	0.0	0.02946	B	0.0	0.01387	B	0.698985	0.06191	N	1.215830	1	0.08975	N	0.55	0.14455	N	2.25	0.17761	T	0.06	0.06253	N	0.043	0.01577	-0.9735	0.36453	T	0.012	0.04795	T	10	0.002669692	0.00041	T	.	.	.	0.000	0.00003	.	.	0.0675242888579	0.06100	0.1289655174123301	0.12821	.	.	0.339985907078	0.16436	T	0.028464	0.20614	T	-0.739682	0.00021	T	-0.819022	0.01472	T	0.00103793005777794	0.00010	T	0.265573	0.04334	T	0.03789585	0.04945	0.0910314	0.21379	0.03789585	0.04944	0.0910314	0.21379	-1.818	0.02563	T	0.11670112200966196	0.10578	0.143	0.31532	B	.	.	-1.126052	0.00610	0.016	0.42476038207020123	0.03134	0.03203	0.08199	N	AEFDBCI	0.025352	0.01723	N	-1.82998506622539	0.00476	0.02048146	-1.86884891316905	0.00563	0.02498569	0.999990691745033	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	3.14	-2.77	0.05529	-1.914000	0.01670	-1.222000	0.05984	-0.889000	0.02397	0.000000	0.06391	0.000000	0.08366	0.037000	0.13953	0.2008:0.3094:0.0:0.4898	3.905	0.08682	733	0.53988	.	.	.	.	.	.	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	0.012873	0.000000	0.015837	0.006897	0.000000	0.013158	0.014706	0.021053	0.05263	3781.83	39	chr19	35720516	.	T	C	3781.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-3.071;DP=965;ExcessHet=0.119;FS=1.475;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.49;ReadPosRankSum=0.078;SOR=0.594	GT:AD:DP:GQ:PL	0/1:91,85:176:99:1994,0,2534	17	0	2	0
chr19	37242575	37242575	G	C	exonic	ZNF383	.	nonsynonymous SNV	ZNF383:NM_001345947:exon5:c.G339C:p.E113D,ZNF383:NM_152604:exon5:c.G339C:p.E113D,ZNF383:NM_001345948:exon6:c.G339C:p.E113D,ZNF383:NM_001345949:exon8:c.G339C:p.E113D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	0.00112702533126	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.135	0.26192	T	0.242	0.25591	T	0.001	0.07471	B	0.001	0.04355	B	0.006426	0.32040	N	0.000000	1	0.08975	N	1.845	0.48678	L	3.27	0.06602	T	-1.93	0.44852	N	0.105	0.08925	-1.0015	0.29488	T	0.012	0.04558	T	10	0.06562859	0.08881	T	0.001127	0.01385	T	0.050	0.13987	0.171	0.07655	0.204665344411	0.20097	0.2024536650823275	0.20162	0.150098835107	0.16931	0.348167300224	0.17652	T	0.057767	0.30656	T	-0.375511	0.03324	T	-0.777172	0.02539	T	0.114952934813616	0.13929	T	0.0224978	0.09705	T	0.06623151	0.14232	0.06962108	0.14691	0.06623151	0.14232	0.06962108	0.14691	-5.398	0.40900	T	.	.	0.128	0.27343	B	.;.;.;.	.;.;.;.	0.723632	0.10925	7.596	0.96424423085987965	0.29771	0.01844	0.05710	N	AEFBI	0.022710	0.01170	N	-1.0235368651313	0.08117	0.3794743	-1.0718711128081	0.08257	0.4052104	6.0225870964308E-4	0.07437	0.706548	0.73137	0	0.724815	0.89359	0	0.670488	0.60580	0	0.635551	0.53088	0	.	.	3.71	-2.53	0.05959	-0.472000	0.06702	.	.	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.992000	0.67800	0.5:0.1852:0.3148:0.0	4.205	0.09939	666	0.61362	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1279.33	33	chr19	37242575	.	G	C	1279.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.129;DP=721;ExcessHet=0;FS=2.436;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.53;ReadPosRankSum=-0.097;SOR=0.698	GT:AD:DP:GQ:PL	0/1:58,53:111:99:1293,0,1564	18	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	.	.	.	.	.	.	.	.	0.2222	2917.36	105	chr19	37887093	.	A	G	2917.36	.	AC=8;AF=0.222;AN=36;BaseQRankSum=-4.617;DP=2024;ExcessHet=4.0268;FS=255.677;InbreedingCoeff=-0.2893;MLEAC=8;MLEAF=0.222;MQ=60;MQRankSum=0;QD=3.22;ReadPosRankSum=1.55;SOR=10.769	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:105,36:141:99:0|1:37887093_A_G:670,0,3625:37887093	10	0	8	1
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	.	.	.	.	.	.	.	.	0.3214	3330.01	92	chr19	37887095	.	C	T	3330.01	.	AC=9;AF=0.321;AN=28;BaseQRankSum=-3.747;DP=1972;ExcessHet=5.3738;FS=263.164;InbreedingCoeff=-0.434;MLEAC=11;MLEAF=0.393;MQ=60;MQRankSum=0;QD=3.19;ReadPosRankSum=1.09;SOR=11.381	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:105,36:141:99:0|1:37887093_A_G:670,0,3625:37887093	5	0	9	5
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	.	.	.	.	.	.	.	.	0.3667	4138.4	92	chr19	37887096	.	A	G	4138.4	.	AC=11;AF=0.367;AN=30;BaseQRankSum=-3.922;DP=2038;ExcessHet=8.9063;FS=263.024;InbreedingCoeff=-0.515;MLEAC=13;MLEAF=0.433;MQ=60;MQRankSum=0;QD=3.31;ReadPosRankSum=1.27;SOR=11.427	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:104,36:140:99:0|1:37887093_A_G:673,0,3590:37887093	4	0	11	4
chr19	38218620	38218620	C	A	exonic	DPF1	.	nonsynonymous SNV	DPF1:NM_001135155:exon5:c.G469T:p.D157Y,DPF1:NM_001135156:exon5:c.G304T:p.D102Y,DPF1:NM_001289978:exon5:c.G469T:p.D157Y,DPF1:NM_001363579:exon5:c.G472T:p.D158Y,DPF1:NM_004647:exon5:c.G469T:p.D157Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.193	0.0823532538216	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.83351	D	1.0	0.90584	D	0.968	0.71741	D	0.004507	0.33669	U	0.180087	0.999788	0.49076	D	.	.	.	-2.82	0.92613	D	-5.77	0.89947	D	0.369	0.57177	-0.7448	0.58206	T	0.244	0.61319	T	10	0.6338005	0.68666	D	0.082353	0.73882	D	0.583	0.83249	0.381	0.39807	0.738188054649	0.73584	0.6265198780888878	0.62584	1.46387727901	0.86409	0.623761475086	0.56260	T	0.276421	0.64900	T	0.185008	0.72503	D	0.0279743	0.72146	D	0.976183235645294	0.71265	D	0.978136	0.92287	D	0.5553563	0.70253	0.5380055	0.73301	0.5553563	0.70254	0.5380055	0.73302	-6.201	0.49533	T	.	.	0.479	0.63609	A	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.874671	0.79886	27.2	0.99500852262001316	0.68031	0.92413	0.55654	D	AEFDBI	0.685783	0.64767	D	0.128248874735176	0.47785	2.999324	0.106241828266306	0.44867	2.760253	0.999811371049165	0.43459	0.626454	0.40138	0	0.80507	0.99744	0	0.723109	0.80598	0	0.699875	0.68795	0	.	.	3.26	2.21	0.27042	5.430000	0.66239	5.901000	0.50888	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.8883:0.0:0.1117	9.430	0.37767	628	0.65206	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1014.33	38	chr19	38218620	.	C	A	1014.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.404;DP=692;ExcessHet=0;FS=4.448;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.52;ReadPosRankSum=0.445;SOR=0.979	GT:AD:DP:GQ:PL	0/1:32,43:75:99:1028,0,770	18	0	1	0
chr19	39247929	39247929	G	A	exonic	IFNL4	.	unknown	UNKNOWN	.	486	1034	2	0	0	2	0.000966184	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00159744	.	.	.	.	.	.	.	.	0.0003074	8	26028	rs530084581	0.0001	0.0001	0.0001	0.0001	0.0051	9.902e-05	9.229e-05	0.0043	0.0040	0	0	0	0	0	0.0010	1.305e-05	0.0003	0.0051	0.0002	0.0002	8.991e-05	0.0003	0.0052	0.0001	0.0001	0.0036	0.0031	0	0	0	0	0.0002	0	0	2.94e-05	0	0.0052	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.222	0.24883	.	.	.	.	.	.	.	0.0055647194	0.00123	T	.	.	.	.	.	.	.	0.226586394389	0.22295	.	.	.	.	.	.	.	0.007248	0.06665	T	-0.299664	0.08692	T	-0.668223	0.07722	T	.	.	.	0.485551	0.14815	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.175	0.38245	B	.	.	2.081343	0.26473	17.13	0.9550865944418947	0.27110	0.09440	0.15195	N	AEFDBHI	0.036229	0.04793	N	.	.	.	.	.	.	0.998077995996677	0.36393	0.166803	0.03914	0	0.085267	0.02369	0	0.182457	0.04408	0	0.109499	0.03221	0	.	.	3.62	2.47	0.29113	1.132000	0.31031	.	.	0.361000	0.20101	0.004000	0.16614	0.002000	0.18203	0.026000	0.12556	0.0:0.0:0.7738:0.2262	8.659	0.33243	593	0.68665	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	620.33	44	chr19	39247929	.	G	A	620.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.551;DP=701;ExcessHet=0;FS=1.134;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.2;ReadPosRankSum=1.17;SOR=0.611	GT:AD:DP:GQ:PL	0/1:20,27:47:99:634,0,487	18	0	1	0
chr19	39734391	39734391	G	C	exonic	CLC	.	nonsynonymous SNV	CLC:NM_001828:exon3:c.C195G:p.N65K	.	432	1068	22	0	0	22	0.0101946	.	.	.	1226484	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.172	.	0.0048	0.0175719	0.0156	0.0016	0.0858	0.0001	0.0212	0.0082	0.0198	0.0108	0.0149545	2312	154602	rs146776010	0.0092	0.0092	0.0095	0.0089	0.0770	0.0091	0.0091	0.0749	0.0740	0.0014	0.0770	0.0080	0.0003	0.0197	0.0064	0.0064	0.0098	0.0114	0.0099	0.0099	0.0089	0.0109	0.0393	0.0095	0.0093	0.0367	0.0357	0.0017	0	0.0393	0.0069	0.0006	0.0275	0	0.0066	0.0104	0.0102	0.015	0.52492	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	1	0.08975	N	3.525	0.93020	H	2.08	0.20255	T	-5.65	0.86988	D	0.274	0.31027	-1.0830	0.06776	T	0.049	0.20829	T	9	0.013160795	0.00280	T	.	.	.	0.172	0.43662	0.944	0.99279	.	.	0.7935249587468006	0.79305	0.572193134915	0.53323	0.513832569122	0.40758	T	0.242098	0.61076	T	-0.442899	0.01243	T	-0.350619	0.39134	T	0.117375244126459	0.14170	T	0.774523	0.40643	T	0.8447447	0.86950	0.6914708	0.81843	0.8447447	0.86952	0.6914708	0.81844	-9.506	0.70896	D	.	.	0.793	0.76947	P	.	.	2.256304	0.28829	17.92	0.98271926166454837	0.39768	0.18700	0.20367	N	AEFBI	0.057236	0.10646	N	0.0414603438479702	0.43750	2.661897	-0.295433822146976	0.28248	1.573534	2.66176801233615E-5	0.03498	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	1.3	1.3	0.20778	1.593000	0.36297	.	.	0.367000	0.20222	0.660000	0.28260	0.083000	0.22416	0.007000	0.07825	0.0:0.0:1.0:0.0	5.870	0.18043	862	0.33134	Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.007049	0.000000	0.004076	0.005848	0.000000	0.000000	0.009146	0.022727	0.02632	1897.33	75	chr19	39734391	.	G	C	1897.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.281;DP=1118;ExcessHet=0;FS=1.956;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.01;ReadPosRankSum=0.614;SOR=0.653	GT:AD:DP:GQ:PL	0/1:78,80:158:99:1911,0,1995	18	0	1	0
chr19	39875630	39875630	G	C	exonic	FCGBP	.	nonsynonymous SNV	FCGBP:NM_003890:exon23:c.C10361G:p.T3454S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.0122189618179	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1847.33	35	chr19	39875630	.	G	C	1847.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.93;DP=1229;ExcessHet=0;FS=0.559;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.74;MQRankSum=0;QD=10.38;ReadPosRankSum=-0.625;SOR=0.76	GT:AD:DP:GQ:PL	0/1:99,79:178:99:1861,0,2475	18	0	1	0
chr19	39883445	39883445	G	A	exonic	FCGBP	.	nonsynonymous SNV	FCGBP:NM_003890:exon19:c.C8390T:p.P2797L	.	.	.	.	.	.	.	.	0.0034	0.006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.165	0.00184330694756	.	0.000199681	0.0001	0.0008	0	0	0	0	0	0	3.84e-05	1	26028	rs571794043	8.187e-05	6.708e-05	3.896e-05	0.0001	0.0010	6.837e-05	6.35e-05	0.0008	0.0008	0.0002	3.426e-05	0	0	0	0.0002	7.562e-06	7.158e-05	0.0010	3.424e-05	3.311e-05	4.012e-05	2.807e-05	0.0002	1.301e-05	8.27e-06	2.165e-05	1.1e-05	8.169e-05	0	0	0	0	0	0	1.483e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	3127.33	69	chr19	39883445	.	G	A	3127.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.65;DP=1554;ExcessHet=0;FS=0.922;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=40.44;MQRankSum=-2.261;QD=11.37;ReadPosRankSum=2.68;SOR=0.617	GT:AD:DP:GQ:PL	0/1:135,140:275:99:3141,0,2914	18	0	1	0
chr19	39896140	39896140	G	A	exonic	FCGBP	.	nonsynonymous SNV	FCGBP:NM_003890:exon12:c.C4931T:p.P1644L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.108	0.0134566044578	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.238e-06	1.443e-05	2.223e-06	2.253e-06	7.934e-05	3.7e-07	1.4e-07	1.313e-05	4.91e-06	0	7.934e-05	0	0	0	0	0	0	0	8.851e-06	1.333e-05	0	1.84e-05	1.858e-05	0	0	.	.	0	0	0	0	0	0	0	1.858e-05	0	0	.	.	.	0.008	0.67890	D	.	.	.	.	.	.	0.000002	0.62929	U	0.000000	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	-1.0611	0.11483	T	0.031	0.13418	T	10	0.26749802	0.44262	T	0.013457	0.32880	T	.	.	.	.	0.29385284311	0.29004	.	.	.	.	0.500284850597	0.38868	T	0.06823	0.33405	T	-0.078472	0.39963	T	-0.350496	0.39149	T	0.850658595561981	0.50222	D	0.734627	0.35069	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	0.22969	B	.	.	2.217543	0.28299	17.75	0.9609991845860707	0.28709	0.89804	0.50508	D	AEFI	0.537309	0.55517	D	-0.288861833698804	0.29578	1.641479	-0.319062857819146	0.27483	1.525338	8.20664232865637E-4	0.07857	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	2.36	2.36	0.28258	3.077000	0.49787	.	.	0.590000	0.31872	1.000000	0.71638	0.190000	0.23489	0.454000	0.27984	0.0:0.2421:0.7579:0.0	8.493	0.32275	725	0.54935	VWFC domain|VWFC 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	.	.	.	.	.	.	.	.	0.02632	52.36	7	chr19	39896140	.	G	A	52.36	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.473;DP=251;ExcessHet=0;FS=0;InbreedingCoeff=-0.0287;MLEAC=1;MLEAF=0.026;MQ=35.36;MQRankSum=-1.616;QD=4.76;ReadPosRankSum=-1.501;SOR=0.495	GT:AD:DP:GQ:PL	0/1:7,4:11:66:66,0,147	18	0	1	0
chr19	39934575	39934575	G	T	exonic	FCGBP	.	nonsynonymous SNV	FCGBP:NM_003890:exon1:c.C44A:p.T15N	.	422	1003	93	4	0	101	0.0479355	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	.	0.0046	0.0223642	0.0372	0.0020	0.0205	0.1475	0.0089	0.0157	0.0370	0.0700	0.0139131	2151	154602	rs75388508	0.0093	0.0079	0.0075	0.0111	0.0662	0.0091	0.0091	0.0629	0.0615	0.0011	0.0054	0.0024	0.0662	0.0048	0.0356	0.0050	0.0118	0.0539	0.0082	0.0082	0.0068	0.0096	0.0595	0.0078	0.0076	0.0541	0.0519	0.0012	0	0.0061	0.0029	0.0595	0.0045	0.0136	0.0066	0.0109	0.0538	.	.	.	.	.	.	.	.	.	.	.	.	0.615989	0.05728	U	1.308190	0.999993	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	-1.0298	0.20519	T	0.003	0.00961	T	10	0.0021094084	0.00030	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.40049123764	0.25137	T	.	.	.	-0.646098	0.00076	T	-0.652957	0.08748	T	0.0105332991833735	0.00146	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.262754	0.28918	17.95	0.90575754460203817	0.19830	0.65483	0.32753	D	AEFDBI	0.111334	0.22046	N	-0.346938018084924	0.27384	1.502045	-0.329407365831129	0.27154	1.504768	0.997071472911191	0.35252	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	4.86	0.00765	0.13393	0.736000	0.25798	.	.	-0.106000	0.15538	0.989000	0.36753	1.000000	0.68203	0.885000	0.42453	0.2802:0.1689:0.5508:0.0	4.300	0.10362	589	0.68969	.	PSMC4|FCGBP|ZNF780A|MAP3K10	Artery_Tibial|Cells_Cultured_fibroblasts|Testis|Thyroid	.	.	rs75388508	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	0.034813	0.005102	0.023098	0.023392	0.000000	0.043103	0.051829	0.087121	0.1053	6357.43	33	chr19	39934575	.	G	T	6357.43	.	AC=4;AF=0.105;AN=38;BaseQRankSum=0.559;DP=1038;ExcessHet=0.7564;FS=1.102;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=12.42;ReadPosRankSum=0.545;SOR=0.793	GT:AD:DP:GQ:PL	0/1:68,66:134:99:1536,0,1628	15	0	4	0
chr19	40015261	40015261	C	A	exonic	ZNF546	.	nonsynonymous SNV	ZNF546:NM_001297763:exon7:c.C1913A:p.P638H,ZNF546:NM_178544:exon7:c.C1991A:p.P664H	.	411	1096	13	2	0	17	0.00769579	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.210	.	0.0035	0.00379393	0.0043	0.0012	0.0016	0	0.0044	0.0044	0.0055	0.0100	0.0042561	658	154602	rs142397727	0.0052	0.0052	0.0052	0.0053	0.0090	0.0051	0.0051	0.0084	0.0082	0.0010	0.0016	0.0077	0	0.0035	0.0047	0.0054	0.0052	0.0090	0.0035	0.0035	0.0035	0.0035	0.0097	0.0032	0.0031	0.0075	0.0067	0.0010	0	0.0021	0.0092	0	0.0035	0.0068	0.0048	0.0057	0.0097	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	0.653301	0.32984	D	2.09	0.57893	M	2.27	0.56772	T	-7.06	0.93879	D	0.414	0.45426	-0.0279	0.81675	T	0.311	0.68112	T	9	0.008543998	0.00194	T	.	.	.	0.210	0.50028	.	.	0.860167341092	0.85881	0.03879595108451441	0.03825	0.484137268567	0.47336	0.386950731277	0.23238	T	0.113869	0.43125	T	-0.364672	0.03873	T	-0.289354	0.45839	T	0.0383043435494674	0.03386	T	.	.	.	0.4752062	0.65609	0.47731093	0.69718	0.4752062	0.65609	0.47731093	0.69719	-9.59	0.71418	D	.	.	0.893	0.84006	P	.;.	.;.	3.101264	0.41800	21.4	0.99558160566288523	0.71583	0.86165	0.45394	D	AEFGBHCI	0.412693	0.48266	N	0.471918669536868	0.65458	4.824925	0.262871618795705	0.53386	3.507753	0.999386520617574	0.39415	0.553676	0.25195	0	0.588066	0.40923	0	0.618467	0.43123	0	0.567892	0.33627	0	.	.	2.68	2.68	0.30839	3.084000	0.49841	.	.	0.469000	0.21855	0.951000	0.33123	0.000000	0.08366	0.011000	0.09372	0.0:1.0:0.0:0.0	11.527	0.49836	769	0.49307	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	0.003525	0.000000	0.004076	0.002924	0.000000	0.008621	0.000000	0.015152	0.05263	3897.83	47	chr19	40015261	.	C	A	3897.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.21;DP=1024;ExcessHet=0.119;FS=0.41;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=59.95;MQRankSum=1.09;QD=12.37;ReadPosRankSum=1.11;SOR=0.65	GT:AD:DP:GQ:PL	0/1:71,83:154:99:2257,0,1711	17	0	2	0
chr19	40667990	40667993	CTGT	0	exonic	NUMBL	.	.	.	.	0	27	2	1	196	200	0.0689655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6316	853.21	33	chr19	40667990	.	CTGT	*	853.21	.	AC=24;AF=0.632;AN=38;DP=856;ExcessHet=5.6906;FS=0.635;InbreedingCoeff=-0.2859;MLEAC=24;MLEAF=0.632;MQ=60;QD=1.1;SOR=0.605	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,39:39:99:1|1:40667975_C_T:1617,117,0:40667975	1	6	12	0
chr19	40667993	40668002	TTGCTGTTGC	0	exonic	NUMBL	.	.	.	.	438	226	37	0	821	858	0.0756646	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6579	78.42	33	chr19	40667993	.	TTGCTGTTGC	*	78.42	.	AC=25;AF=0.658;AN=38;BaseQRankSum=-1.002;DP=861;ExcessHet=1.8686;FS=0.664;InbreedingCoeff=-0.0857;MLEAC=25;MLEAF=0.658;MQ=60;MQRankSum=0;QD=0.1;ReadPosRankSum=0.057;SOR=0.589	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,39:39:99:1|1:40667975_C_T:1617,117,0:40667975	1	7	11	0
chr19	47086398	47086398	C	G	exonic	ZC3H4	.	nonsynonymous SNV	ZC3H4:NM_015168:exon6:c.G856C:p.E286Q	.	402	1117	3	0	0	3	0.00134108	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.00939684924632	0.0005	.	0.0007	0.0002	0.0003	0	0.0020	0.0008	0.0034	0.0003	0.0006339	98	154602	rs201516068	0.0007	0.0007	0.0006	0.0007	0.0031	0.0007	0.0006	0.0020	0.0017	0.0003	0.0006	3.828e-05	2.521e-05	0.0013	0.0031	0.0007	0.0008	0.0003	0.0006	0.0006	0.0005	0.0007	0.0009	0.0005	0.0005	0.0007	0.0006	9.626e-05	0	0.0007	0	0	0.0014	0.0102	0.0009	0.0028	0	0.147	0.24955	T	0.263	0.22828	T	0.36	0.33860	B	0.285	0.40506	B	0.094364	0.20176	N	0.412177	0.898145	0.36107	D	0.55	0.14455	N	2.13	0.19588	T	-0.96	0.25551	N	0.363	0.40465	-1.0494	0.14565	T	0.054	0.22808	T	10	0.017079026	0.00363	T	0.009397	0.24646	T	0.046	0.12618	.	.	0.110392049598	0.10638	.	.	1.1745074142	0.79847	0.437089323997	0.30180	T	0.094125	0.39353	T	-0.483639	0.00705	T	-0.541604	0.18139	T	0.0193574598861751	0.00640	T	0.827917	0.49191	T	0.10752565	0.25426	0.067954175	0.14126	0.10752565	0.25426	0.067954175	0.14125	-5.9	0.45435	T	.	.	0.185	0.40081	B	.	.	4.149601	0.62235	24.4	0.99146569267095708	0.53682	0.96402	0.68962	D	AEFDBI	0.509862	0.53915	D	0.0488738469212762	0.44090	2.68952	0.141941464343052	0.46718	2.913165	0.999629423909593	0.41093	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.12	5.12	0.69459	4.772000	0.62019	7.569000	0.60664	0.599000	0.40250	0.976000	0.34826	1.000000	0.68203	0.991000	0.66497	0.0:1.0:0.0:0.0	17.701	0.88200	883	0.28872	.	.	.	.	.	.	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	0.010101	0.004076	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	710.33	34	chr19	47086398	.	C	G	710.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.62;DP=686;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.46;ReadPosRankSum=0.938;SOR=0.732	GT:AD:DP:GQ:PL	0/1:33,29:62:99:724,0,780	18	0	1	0
chr19	48601118	48601118	C	-	exonic	FAM83E	.	frameshift deletion	FAM83E:NM_017708:exon7:c.1428delG:p.Q477Nfs*64	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0	0	0	4.783e-05	0	0.0012	0.0001358	21	154602	rs755929901	8.571e-05	9.098e-05	5.322e-05	0.0001	0.0010	7.329e-05	6.832e-05	0.0008	0.0008	0	0	0	0	0	0	2.97e-05	9.963e-05	0.0010	3.941e-05	3.939e-05	3.853e-05	4.034e-05	0.0006	1.715e-05	1.129e-05	0.0002	8.973e-05	0	0	0	0	0	0	0	4.409e-05	0	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	404.29	33	chr19	48601117	.	GC	G	404.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.36;DP=659;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.86;ReadPosRankSum=-2;SOR=0.871	GT:AD:DP:GQ:PL	0/1:24,17:41:99:418,0,639	18	0	1	0
chr19	48936179	48936179	C	T	exonic	DHDH	.	nonsynonymous SNV	DHDH:NM_014475:exon3:c.C350T:p.A117V	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.00229205170292	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1270206683	2.769e-06	4.788e-06	1.375e-06	4.183e-06	2.542e-05	6.5e-07	4.4e-07	3e-07	1.1e-07	0	0	0	2.542e-05	0	0	1.81e-06	0	1.183e-05	6.57e-06	6.566e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.009	0.57480	D	0.014	0.62352	D	0.007	0.14184	B	0.006	0.12133	B	0.001702	0.38216	N	0.318961	1	0.31391	N	0.975	0.24501	L	1.96	0.22270	T	-1.24	0.32387	N	0.117	0.17002	-1.0272	0.21363	T	0.037	0.15943	T	10	0.11292955	0.21199	T	0.002292	0.04397	T	0.045	0.12272	0.591	0.71999	0.186928172975	0.18263	0.3791107673983318	0.37826	0.129197832396	0.14567	0.739347219467	0.72875	T	0.035251	0.23644	T	-0.442557	0.01249	T	-0.697632	0.05956	T	0.398051619529724	0.28868	T	0.438556	0.18722	T	0.09538332	0.22446	0.09883611	0.23576	0.09538332	0.22446	0.09883611	0.23576	-8.004	0.61098	D	.	.	0.207	0.47805	B	.;.	.;.	2.656993	0.34605	19.67	0.99849204108007017	0.92838	0.25901	0.22837	N	AEFBI	0.180028	0.30732	N	-0.470229309240722	0.23060	1.236	-0.364063731808069	0.26078	1.438106	0.0122571468984637	0.12301	0.581397	0.33459	0	0.78372	0.99691	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	4.39	3.35	0.37468	1.785000	0.38315	4.298000	0.42932	-0.107000	0.15377	0.007000	0.17678	1.000000	0.68203	0.987000	0.62547	0.1879:0.1786:0.6335:0.0	4.788	0.12604	769	0.49307	Oxidoreductase, N-terminal;Oxidoreductase, 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	.	.	.	.	.	.	.	.	0.02632	712.33	35	chr19	48936179	.	C	T	712.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.796;DP=724;ExcessHet=0;FS=0.876;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.79;ReadPosRankSum=-0.774;SOR=0.512	GT:AD:DP:GQ:PL	0/1:48,33:81:99:726,0,1195	18	0	1	0
chr19	49539123	49539123	C	T	exonic	RCN3	.	nonsynonymous SNV	RCN3:NM_020650:exon5:c.C623T:p.T208I	.	420	1098	2	0	2	4	0.000909918	.	.	.	2359572	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.538	0.0691193671612	7.7e-05	.	7.655e-05	0.0006	0	0	0	0	0	0.0002	5.82e-05	9	154602	rs146820947	1.792e-05	1.984e-05	1.921e-05	1.662e-05	0.0002	1.247e-05	1.06e-05	9.953e-05	7.964e-05	0.0002	2.39e-05	0	0	0	0	9.027e-07	8.353e-05	0.0002	7.227e-05	7.218e-05	6.427e-05	8.065e-05	0.0002	3.971e-05	3.127e-05	0.0001	9.918e-05	0.0002	0	0	0	0	0	0	0	0.0005	0	0.007	0.59928	D	0.002	0.79402	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.185	0.88900	M	0.76	0.49919	T	-5.76	0.87835	D	0.579	0.60071	-0.4161	0.71516	T	0.356	0.71873	T	10	0.67236555	0.70789	D	0.069119	0.70642	D	0.538	0.80664	.	.	0.746167403995	0.74388	0.8007525347034888	0.80029	0.130044795835	0.14670	0.745419323444	0.73771	T	0.048315	0.27982	T	0.0298764	0.55706	T	0.123212	0.78447	D	0.903016686439514	0.55612	D	0.825317	0.48765	T	0.6913299	0.77583	0.60595965	0.77093	0.6913299	0.77585	0.60595965	0.77094	-9.661	0.71857	D	.	.	0.940	0.85926	P	.	.	4.669067	0.74605	26.2	0.99879697166297676	0.95572	0.99573	0.97585	D	AEFBI	0.874677	0.79768	D	0.872939013938002	0.90374	10.37448	0.837108020570201	0.92240	11.31413	0.999999999999984	0.74766	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.62	5.62	0.85714	2.970000	0.48932	7.118000	0.57587	0.599000	0.40250	0.987000	0.36337	1.000000	0.68203	0.899000	0.43558	0.0:1.0:0.0:0.0	18.440	0.90611	846	0.36215	EF-hand domain|EF-hand domain|EF-hand 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	.	.	.	.	.	.	.	.	0.02632	832.33	33	chr19	49539123	.	C	T	832.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.42;DP=710;ExcessHet=0;FS=3.638;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.21;ReadPosRankSum=0.907;SOR=1.264	GT:AD:DP:GQ:PL	0/1:28,35:63:99:846,0,614	18	0	1	0
chr19	52384821	52384821	-	ATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACC	exonic	ZNF880	.	stopgain	ZNF880:NM_001145434:exon4:c.1241_1242insATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACC:p.K415_R577delinsS	.	0	147	6	0	73	79	0.02	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0035	0.0066	0.0030	0.0040	0.0144	0.0034	0.0034	0.0137	0.0134	0.0042	0.0058	0.0055	0.0048	0.0038	0.0036	0.0024	0.0048	0.0144	0.0019	0.0029	0.0019	0.0018	0.0024	0.0017	0.0016	0.0018	0.0017	0.0017	0	0.0024	0.0031	0.0010	0.0011	0	0.0021	0.0005	0.0024	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	3948.52	103	chr19	52384821	.	G	GATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACC	3948.52	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.913;DP=1172;ExcessHet=6.9875;FS=83.047;InbreedingCoeff=-0.3567;MLEAC=2;MLEAF=0.053;MQ=58.37;MQRankSum=-1.962;QD=6.88;ReadPosRankSum=-1.104;SOR=8.979	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:19,19:38:99:0|1:52384817_T_TTTGGGAGGCCGAGGCGG:741,0,736:52384817	17	0	2	0
chr19	52705335	52705335	T	G	exonic	ZNF611	.	nonsynonymous SNV	ZNF611:NM_001161500:exon5:c.A1720C:p.T574P,ZNF611:NM_001161501:exon5:c.A1513C:p.T505P,ZNF611:NM_001161499:exon6:c.A1720C:p.T574P,ZNF611:NM_030972:exon7:c.A1720C:p.T574P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.00153046048394	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.42487	D	0.039	0.51112	D	0.979	0.59044	D	0.864	0.61462	P	.	.	.	.	0.999868	0.20482	N	1.57	0.39626	L	2.03	0.20959	T	-2.83	0.60827	D	0.121	0.11912	-1.0399	0.17343	T	0.086	0.33382	T	9	0.18418834	0.33780	T	0.00153	0.02394	T	0.032	0.07718	0.552	0.66856	0.401185642668	0.39728	0.04650909371637888	0.04594	0.148407807486	0.16736	0.325351119041	0.14231	T	0.005383	0.04831	T	-0.282945	0.10358	T	-0.644207	0.09365	T	0.344055903066055	0.26784	T	0.20278	0.02336	T	0.25133687	0.48141	0.3721436	0.62429	0.25133687	0.48141	0.3721436	0.62429	-6.913	0.53395	T	.	.	0.570	0.67639	P	.;.;.;.;.;.	.;.;.;.;.;.	1.103333	0.14878	11.40	0.84847759576342241	0.15533	0.14817	0.18600	N	AEFBI	0.218124	0.34316	N	-0.49034176140995	0.22397	1.195614	-0.813926895229683	0.14158	0.7383548	1.18263356229515E-5	0.02871	0.562547	0.31514	0	0.577304	0.33150	0	0.575934	0.27490	0	0.635551	0.53088	0	.	.	1.58	-1.16	0.09181	-1.929000	0.01650	.	.	-0.283000	0.06393	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.2889:0.0:0.7111	5.469	0.15955	923	0.18507	.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	5420.33	68	chr19	52705335	.	T	G	5420.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.48;DP=1338;ExcessHet=0;FS=0.375;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.23;ReadPosRankSum=-1.366;SOR=0.666	GT:AD:DP:GQ:PL	0/1:186,195:381:99:5434,0,4857	18	0	1	0
chr19	53873617	53873617	C	G	exonic	MYADM	.	nonsynonymous SNV	MYADM:NM_001020818:exon2:c.C88G:p.R30G,MYADM:NM_001290194:exon2:c.C88G:p.R30G,MYADM:NM_001020819:exon3:c.C88G:p.R30G,MYADM:NM_001020820:exon3:c.C88G:p.R30G,MYADM:NM_001020821:exon3:c.C88G:p.R30G,MYADM:NM_001290188:exon3:c.C88G:p.R30G,MYADM:NM_001290189:exon3:c.C88G:p.R30G,MYADM:NM_001290190:exon3:c.C88G:p.R30G,MYADM:NM_001290191:exon3:c.C88G:p.R30G,MYADM:NM_001290192:exon3:c.C88G:p.R30G,MYADM:NM_001290193:exon3:c.C88G:p.R30G,MYADM:NM_138373:exon3:c.C88G:p.R30G	.	424	1080	18	0	0	18	0.00826446	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	0.00535916803448	0.0008	0.000798722	0.0010	0	0.0003	0	0	0.0004	0.0022	0.0053	0.0008344	129	154602	rs150547635	0.0007	0.0007	0.0005	0.0009	0.0061	0.0006	0.0006	0.0057	0.0055	2.987e-05	0.0002	3.826e-05	0	5.617e-05	0.0043	0.0003	0.0009	0.0061	0.0004	0.0004	0.0004	0.0003	0.0041	0.0003	0.0003	0.0027	0.0023	7.216e-05	0	6.537e-05	0	0	0	0.0034	0.0004	0.0005	0.0041	0.083	0.37326	T	0.192	0.54159	T	0.649	0.40609	P	0.097	0.30390	B	0.027501	0.25748	N	0.232108	1	0.08975	N	0	0.06538	N	.	.	.	-1.99	0.47008	N	0.469	0.57006	-1.0273	0.21331	T	0.028	0.12190	T	9	0.0064009726	0.00145	T	0.005359	0.13740	T	0.070	0.20419	.	.	0.0482279557977	0.04254	0.41748526974413114	0.41664	0.478033407144	0.46893	0.579204559326	0.49974	T	0.021679	0.30149	T	-0.400738	0.02290	T	-0.346352	0.39623	T	0.0193615758128243	0.00641	T	0.749425	0.38803	T	0.21697219	0.44169	0.15890877	0.37086	0.21697219	0.44169	0.15890877	0.37085	-6.197	0.47898	T	.	.	0.248	0.48261	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	2.552415	0.33039	19.22	0.98151324419597863	0.38688	0.29574	0.23857	N	AEFDBHCI	0.239669	0.36158	N	-0.675706972574033	0.16715	0.8540628	-0.662413511955786	0.17904	0.954078	0.999021253529424	0.38237	0.67177	0.52595	0	0.588066	0.40923	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	3.94	1.64	0.22949	0.136000	0.15794	.	.	0.545000	0.25583	0.079000	0.22314	0.462000	0.25007	0.461000	0.28141	0.5385:0.4615:0.0:0.0	9.825	0.40071	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	0	0	0.002014	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.011364	0.02632	1879.33	34	chr19	53873617	.	C	G	1879.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.25;DP=775;ExcessHet=0;FS=2.008;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.46;ReadPosRankSum=0.015;SOR=0.883	GT:AD:DP:GQ:PL	0/1:94,70:164:99:1893,0,2331	18	0	1	0
chr19	54276882	54276882	C	T	exonic	LILRB2	.	nonsynonymous SNV	LILRB2:NM_001278404:exon9:c.G1060A:p.V354I,LILRB2:NM_001278405:exon9:c.G1408A:p.V470I,LILRB2:NM_001080978:exon10:c.G1405A:p.V469I,LILRB2:NM_001278403:exon10:c.G1405A:p.V469I,LILRB2:NM_005874:exon10:c.G1408A:p.V470I	.	7	1488	27	0	0	27	0.00899101	.	.	.	2818765	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.022	.	.	.	0.0043	0.0010	0.0008	0.0005	0.0030	0.0035	0.0089	0.0147	0.0037968	587	154602	rs201896387	0.0022	0.0033	0.0019	0.0024	0.0090	0.0021	0.0021	0.0085	0.0083	0.0006	0.0003	0.0093	0.0013	0.0028	0.0057	0.0015	0.0027	0.0090	0.0038	0.0044	0.0038	0.0037	0.0128	0.0035	0.0034	0.0102	0.0093	0.0009	0	0.0005	0.0148	0.0017	0.0054	0	0.0050	0.0038	0.0128	0.41	0.10447	T	0.507	0.10930	T	.	.	.	.	.	.	0.004717	0.01040	N	4.087460	1	0.08975	N	.	.	.	7.18	0.00461	T	-0.01	0.08033	N	0.174	0.20129	-0.9369	0.43103	T	0.001	0.00222	T	10	0.008268654	0.00187	T	.	.	.	0.022	0.04323	.	.	0.0482279557977	0.04254	0.07143803999841027	0.07080	0.0402463030352	0.04312	0.385403037071	0.23020	T	.	.	.	-0.307311	0.07988	T	-0.679208	0.07032	T	0.0112204546630522	0.00165	T	0.533947	0.17813	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.06114	B	.;.;.;.;.	.;.;.;.;.	-0.935676	0.00867	0.031	0.32542988460209776	0.01891	0.00069	0.00489	N	AEFDGBI	0.033431	0.03963	N	-1.87611417802756	0.00384	0.0165179	-1.94326987473154	0.00401	0.01772593	0.999968844712394	0.48965	0.516011	0.20929	0	0.610034	0.51514	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	1.5	-2.99	0.05164	-3.362000	0.00552	.	.	-1.059000	0.01621	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2116:0.2835:0.0:0.5049	2.883	0.05304	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	0.007772	0.000000	0.005435	0.010490	0.000000	0.000000	0.009146	0.022727	0.05263	2597.83	35	chr19	54276882	.	C	T	2597.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.92;DP=1080;ExcessHet=0.119;FS=3.778;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=53.5;MQRankSum=-0.696;QD=5.97;ReadPosRankSum=-0.298;SOR=1.018	GT:AD:DP:GQ:PL	0/1:144,70:214:99:1561,0,3587	17	0	2	0
chr19	54278850	54278850	C	G	exonic	LILRB2	.	nonsynonymous SNV	LILRB2:NM_001278404:exon5:c.G569C:p.C190S,LILRB2:NM_001278405:exon5:c.G917C:p.C306S,LILRB2:NM_001278406:exon5:c.G917C:p.C306S,LILRB2:NM_001080978:exon6:c.G917C:p.C306S,LILRB2:NM_001278403:exon6:c.G917C:p.C306S,LILRB2:NM_005874:exon6:c.G917C:p.C306S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.00698083086529	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.001	0.83351	D	.	.	.	.	.	.	0.349415	0.13839	N	0.545838	0.999995	0.18612	N	.	.	.	5.86	0.00639	T	-0.98	0.26200	N	0.24	0.27316	-0.9012	0.47868	T	0.002	0.00646	T	10	0.12034735	0.22794	T	0.006981	0.18485	T	0.078	0.22779	0.46	0.52753	0.275641507738	0.27180	0.10838253058347075	0.10767	0.0658763210016	0.07348	0.391128450632	0.23828	T	.	.	.	-0.191428	0.22048	T	-0.51275	0.21033	T	0.23907949413947	0.22377	T	0.888611	0.61875	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.135	0.35247	B	.;.;.;.;.	.;.;.;.;.	1.591196	0.20349	14.71	0.85166469751662177	0.15725	0.63717	0.32176	D	AEFBI	0.288131	0.40010	N	-0.699298669911215	0.16042	0.813848	-0.661359548250741	0.17930	0.9556226	0.995245043712255	0.34024	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.87	1.81	0.24139	1.307000	0.33121	.	.	0.543000	0.25316	0.095000	0.22689	0.000000	0.08366	0.003000	0.05239	0.0:0.8395:0.0:0.1605	6.008	0.18785	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	0	0	.	.	.	.	.	.	.	.	0.02632	2555.33	122	chr19	54278850	.	C	G	2555.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.225;DP=2119;ExcessHet=0;FS=2.073;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.87;MQRankSum=1.44;QD=14.6;ReadPosRankSum=0.931;SOR=0.886	GT:AD:DP:GQ:PL	0/1:87,88:175:99:2569,0,2309	18	0	1	0
chr19	54594845	54594845	C	A	exonic	LILRA1	.	nonsynonymous SNV	LILRA1:NM_001278319:exon3:c.C251A:p.P84H,LILRA1:NM_001278318:exon4:c.C251A:p.P84H,LILRA1:NM_006863:exon4:c.C251A:p.P84H	.	9	1511	2	0	0	2	0.000661376	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.00148072115708	.	.	0.0001	0	0	0	0	1.498e-05	0.0011	0.0008	9.7e-05	15	154602	rs780771279	7.456e-05	7.456e-05	4.22e-05	0.0001	0.0010	6.315e-05	5.873e-05	0.0008	0.0007	0	0	0	0	0	0.0009	1.709e-05	4.967e-05	0.0010	5.258e-05	5.253e-05	3.854e-05	6.727e-05	0.0004	2.558e-05	1.83e-05	7.282e-05	3.026e-05	7.243e-05	0	0	0	0	0	0	4.411e-05	0	0.0004	0.339	0.25255	T	0.332	0.20037	T	0.047	0.33698	B	0.039	0.35894	B	0.643669	0.05882	N	1.213670	1	0.08975	N	1.52	0.38360	L	2.82	0.10871	T	-2.13	0.67014	N	0.058	0.02964	-0.9750	0.36125	T	0.030	0.13067	T	10	0.029116124	0.01040	T	0.001481	0.02267	T	0.029	0.06676	0.412	0.44887	0.156986980423	0.15292	0.062447551293867185	0.06184	0.0324288653055	0.03388	0.221532315016	0.01400	T	0.00236	0.01759	T	-0.571745	0.00216	T	-0.675832	0.07240	T	0.0477802492425464	0.05105	T	.	.	.	0.0797255	0.18228	0.079492085	0.17899	0.0797255	0.18228	0.079492085	0.17898	-5.246	0.39406	T	.	.	0.109	0.24800	B	.;.	.;.	-0.399053	0.02216	0.223	0.4609022314434566	0.03666	0.00599	0.02675	N	AEFDBI	0.053762	0.09715	N	-1.03074446041235	0.07971	0.3721223	-1.21955037213708	0.05596	0.2670805	0.999948355735034	0.47345	0.609539	0.35627	0	0.493711	0.08144	1	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.58	-0.995	0.09699	-1.543000	0.02298	.	.	-1.160000	0.01413	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.4382:0.3208:0.241	2.514	0.04380	946	0.12043	Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	4554.33	248	chr19	54594845	.	C	A	4554.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.681;DP=3227;ExcessHet=0;FS=4.505;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.92;MQRankSum=1.18;QD=14.93;ReadPosRankSum=-1.765;SOR=0.695	GT:AD:DP:GQ:PL	0/1:128,177:305:99:4568,0,3020	18	0	1	0
chr19	55358524	55358524	C	0	exonic	FAM71E2	.	.	.	.	438	22	102	3	957	1065	0.710526	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8947	3628.45	124	chr19	55358524	.	C	*	3628.45	.	AC=34;AF=0.895;AN=38;DP=2110;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=34;MLEAF=0.895;MQ=60;QD=2.07;SOR=0.847	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,56:113:99:1|0:55358511_GGCTCCTTCATCTCGCCCCATGGCT_G:4672,2354,2185:55358511	0	15	4	0
chr19	55358535	55358535	T	0	exonic	FAM71E2	.	.	.	.	454	13	102	3	950	1058	0.80597	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8947	3915.38	124	chr19	55358535	.	T	*	3915.38	.	AC=34;AF=0.895;AN=38;DP=2124;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=34;MLEAF=0.895;MQ=60;QD=2.23;SOR=0.837	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,56:113:99:1|0:55358511_GGCTCCTTCATCTCGCCCCATGGCT_G:4667,2354,2214:55358511	0	15	4	0
chr19	55498128	55498128	-	TCTCTACAAAAATTAAAAATGAGCCGGGTGTGGTGGCGCACATCTGTAGTCCCACCTTTTC	exonic	SSC5D	.	frameshift insertion	SSC5D:NM_001144950:exon9:c.1636_1637insTCTCTACAAAAATTAAAAATGAGCCGGGTGTGGTGGCGCACATCTGTAGTCCCACCTTTTC:p.D546Vfs*36,SSC5D:NM_001195267:exon9:c.1636_1637insTCTCTACAAAAATTAAAAATGAGCCGGGTGTGGTGGCGCACATCTGTAGTCCCACCTTTTC:p.D546Vfs*36	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	69.29	37	chr19	55498128	.	G	GTCTCTACAAAAATTAAAAATGAGCCGGGTGTGGTGGCGCACATCTGTAGTCCCACCTTTTC	69.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.07;DP=876;ExcessHet=0;FS=35.129;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.43;ReadPosRankSum=-1.599;SOR=5.178	GT:AD:DP:GQ:PL	0/1:150,13:163:83:83,0,6228	18	0	1	0
chr19	56222221	56222221	G	A	exonic	ZSCAN5A	.	nonsynonymous SNV	ZSCAN5A:NM_001322077:exon5:c.C494T:p.S165L,ZSCAN5A:NM_001322078:exon5:c.C455T:p.S152L,ZSCAN5A:NM_001322062:exon6:c.C842T:p.S281L,ZSCAN5A:NM_001322064:exon6:c.C845T:p.S282L,ZSCAN5A:NM_001322065:exon6:c.C845T:p.S282L,ZSCAN5A:NM_001322066:exon6:c.C845T:p.S282L,ZSCAN5A:NM_001322067:exon6:c.C845T:p.S282L,ZSCAN5A:NM_001322068:exon6:c.C845T:p.S282L,ZSCAN5A:NM_001322070:exon6:c.C845T:p.S282L,ZSCAN5A:NM_001322073:exon6:c.C842T:p.S281L,ZSCAN5A:NM_001322074:exon6:c.C842T:p.S281L,ZSCAN5A:NM_001322075:exon6:c.C842T:p.S281L,ZSCAN5A:NM_001322076:exon6:c.C842T:p.S281L,ZSCAN5A:NM_024303:exon6:c.C845T:p.S282L,ZSCAN5A:NM_001322061:exon7:c.C842T:p.S281L,ZSCAN5A:NM_001322072:exon7:c.C845T:p.S282L	.	419	1087	16	0	0	16	0.00730594	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.000987357988313	.	.	0.0024	0.0070	0.0007	0.0012	0.0002	0.0015	0	0.0063	0.0001164	18	154602	rs146091512	0.0011	0.0013	0.0010	0.0013	0.0071	0.0011	0.0011	0.0066	0.0065	0.0007	0.0006	0.0116	0.0019	0.0005	0.0035	0.0004	0.0018	0.0071	0.0011	0.0014	0.0010	0.0011	0.0048	0.0009	0.0009	0.0033	0.0028	0.0009	0	0.0006	0.0104	0.0010	0.0007	0.0068	0.0006	0.0019	0.0048	0.187	0.21385	T	0.23	0.25135	T	0.029	0.19866	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	1.43	0.35840	L	3.36	0.09635	T	-1.94	0.45042	N	0.038	0.16028	-0.9645	0.38310	T	0.014	0.05608	T	9	0.007154286	0.00163	T	9.87E-4	0.01050	T	0.017	0.02790	.	.	0.130388298395	0.12655	0.12724300887959056	0.12650	0.0585099463108	0.06489	0.263565391302	0.05322	T	0.016764	0.45325	T	-0.740293	0.00021	T	-0.833405	0.01203	T	0.000779366579697761	0.00007	T	0.671133	0.29211	T	0.047343127	0.08078	0.047482938	0.06847	0.047343127	0.08078	0.047482938	0.06847	-3.731	0.19776	T	.	.	0.168	0.41918	B	.;.;.;.;.	.;.;.;.;.	0.504653	0.08736	5.511	0.51735068036967002	0.04617	0.01589	0.05168	N	AEFBI	0.039664	0.05794	N	-1.31309409080676	0.03524	0.1575841	-1.47507454624181	0.02550	0.1174874	9.06666100771661E-5	0.04703	0.615465	0.37627	0	0.653731	0.59785	0	0.49644	0.08281	0	0.655142	0.61905	0	.	.	1.69	-3.38	0.04577	-1.008000	0.03774	.	.	-0.300000	0.06199	0.000000	0.06391	0.000000	0.08366	0.022000	0.11911	0.3887:0.0:0.4311:0.1802	3.435	0.07012	952	0.10565	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006501	0.000000	0.005464	0.000000	0.000000	0.017241	0.016129	0.003788	0.02632	2874.33	34	chr19	56222221	.	G	A	2874.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.65;DP=864;ExcessHet=0;FS=1.711;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.22;MQRankSum=-6.484;QD=14.16;ReadPosRankSum=1;SOR=0.839	GT:AD:DP:GQ:PL	0/1:102,101:203:99:2888,0,2539	18	0	1	0
chr19	57399557	57399557	A	G	exonic	ZNF548	.	nonsynonymous SNV	ZNF548:NM_152909:exon3:c.A1270G:p.S424G,ZNF548:NM_001172773:exon4:c.A1306G:p.S436G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	0.00349131566491	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.247	0.20154	T	0.253	0.25514	T	0.625	0.40054	P	0.246	0.38861	B	.	.	.	.	1	0.08975	N	1.065	0.27018	L	3.17	0.07599	T	-2.9	0.60982	D	0.164	0.18239	-0.9618	0.38839	T	0.012	0.04795	T	9	0.06829235	0.09639	T	0.003491	0.07908	T	0.020	0.03691	0.248	0.18447	0.188950314367	0.18478	0.048729989757379986	0.04815	0.482082507324	0.47176	0.296000212431	0.09807	T	0.043098	0.26392	T	-0.289633	0.09673	T	-0.653814	0.08688	T	0.274709025998121	0.23948	T	0.0725927	0.00551	T	0.1032575	0.24405	0.122188956	0.29475	0.1032575	0.24405	0.122188956	0.29475	-6.46	0.49976	T	.	.	0.098	0.16319	B	.;.	.;.	1.808664	0.22987	15.84	0.96991868652993074	0.31904	0.06724	0.12745	N	AEFGBCI	0.101690	0.20418	N	-0.817768229387102	0.12856	0.6294358	-0.905032807136617	0.11975	0.6133331	0.173154589512114	0.17765	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	2.2	1.14	0.19817	-3.047000	0.00692	.	.	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.992000	0.67800	0.373:0.4207:0.0:0.2063	3.993	0.09035	952	0.10565	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	.	.	.	.	.	.	.	.	0.02632	1375.33	42	chr19	57399557	.	A	G	1375.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.77;DP=852;ExcessHet=0;FS=2.126;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.05;ReadPosRankSum=-0.409;SOR=0.52	GT:AD:DP:GQ:PL	0/1:96,56:152:99:1389,0,2706	18	0	1	0
chr19	57474334	57474334	C	A	exonic	ZNF772	.	nonsynonymous SNV	ZNF772:NM_001330613:exon3:c.G74T:p.G25V,ZNF772:NM_001144068:exon4:c.G287T:p.G96V,ZNF772:NM_001024596:exon5:c.G410T:p.G137V	.	428	1064	29	1	0	31	0.0143585	.	.	.	2815433	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.014	.	0.0065	0.00179712	0.0052	0.0012	0.0042	0	0.0005	0.0080	0.0121	0.0016	0.0051552	797	154602	rs149559142	0.0056	0.0056	0.0056	0.0057	0.0479	0.0055	0.0055	0.0432	0.0414	0.0016	0.0052	0.0325	0	0.0002	0.0479	0.0056	0.0078	0.0018	0.0049	0.0049	0.0051	0.0047	0.0066	0.0046	0.0045	0.0061	0.0059	0.0013	0	0.0061	0.0314	0	0.0004	0.0442	0.0066	0.0090	0.0017	0.082	0.42783	T	0.1	0.43913	T	0.015	0.17086	B	0.006	0.12133	B	.	.	.	.	0.999999	0.08975	N	0.91	0.23283	L	3.4	0.06445	T	-2.55	0.75297	D	0.075	0.07535	-0.9246	0.44915	T	0.007	0.02282	T	9	0.003584683	0.00065	T	.	.	.	0.014	0.01968	.	.	0.242825505644	0.23883	0.06286079249604214	0.06225	0.265364884536	0.29093	0.231391102076	0.02073	T	0.082708	0.36889	T	-0.692122	0.00041	T	-0.762956	0.03008	T	0.00628874385665996	0.00070	T	0.00682563	0.00163	T	0.053275492	0.10058	0.0621461	0.12114	0.053275492	0.10058	0.0621461	0.12114	-4.803	0.41388	T	.	.	0.086	0.16538	B	.;.;.	.;.;.	-0.622206	0.01512	0.096	0.38261841953168846	0.02570	0.08835	0.14704	N	AEFBCI	0.082553	0.16716	N	-1.8198645664141	0.00498	0.02145112	-1.91443553567497	0.00458	0.02028973	0.999532729199548	0.40238	0.651	0.46895	0	0.708844	0.79440	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	3.99	-7.18	0.01354	-1.430000	0.02541	.	.	-1.832000	0.00589	0.000000	0.06391	.	.	0.000000	0.00833	0.3455:0.2572:0.1076:0.2898	0.653	0.00777	982	0.03397	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.034778	0.020202	0.046196	0.064706	0.050000	0.025862	0.015244	0.003788	0.05263	1939.83	38	chr19	57474334	.	C	A	1939.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.718;DP=831;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.76;ReadPosRankSum=-1.429;SOR=0.691	GT:AD:DP:GQ:PL	0/1:44,40:84:99:1004,0,1232	17	0	2	0
chr20	2102157	2102157	G	T	exonic	STK35	.	nonsynonymous SNV	STK35:NM_080836:exon1:c.G276T:p.K92N	.	444	1077	0	1	0	2	0.000927644	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.123382005749	.	0.000399361	0	0	0	0	.	0	0	0	0.0003458	9	26028	rs61729225	0.0003	0.0003	0.0004	0.0003	0.0003	0.0003	0.0003	0.0002	0.0002	0.0001	0.0003	0.0070	0	0	0	0.0002	0.0008	0	0.0006	0.0006	0.0006	0.0007	0.0003	0.0005	0.0005	0.0002	0.0002	9.67e-05	0.0265	0.0003	0.0110	0	0	0	0.0003	0.0010	0	0.0	0.91255	D	0.0	0.92824	D	0.895	0.49247	P	0.431	0.45421	B	.	.	.	.	1	0.81001	D	0.695	0.17993	N	-0.41	0.69413	T	-0.4	0.13805	N	0.103	0.08646	-0.9700	0.37200	T	0.132	0.44465	T	9	0.0056108832	0.00124	T	0.123382	0.80454	D	0.087	0.25287	0.247	0.18293	0.41887692313	0.41506	0.28925113197214736	0.28838	1.22219101905	0.81110	0.783463478088	0.79450	T	0.004216	0.03621	T	-0.19692	0.21249	T	-0.204483	0.54222	T	0.211089281212853	0.21010	T	0.519248	0.16884	T	0.14580125	0.33405	0.21765302	0.46439	0.14580125	0.33405	0.21765302	0.46438	-4.196	0.26694	T	.	.	0.271	0.50463	B	.	.	3.926164	0.57351	23.8	0.99437799724801235	0.64621	0.83146	0.42288	D	ALL	0.124665	0.24083	N	-0.0220197666820603	0.40860	2.433862	0.0289401435812989	0.41065	2.460921	0.999999999999765	0.74766	0.266657	0.04791	1	0.484254	0.07192	0	0.239995	0.05000	1	0.56214	0.19341	0	.	.	3.98	2.98	0.33575	2.133000	0.41716	5.010000	0.46663	0.590000	0.31872	1.000000	0.71638	1.000000	0.68203	0.862000	0.40904	0.1347:0.0:0.8653:0.0	6.981	0.23883	806	0.43582	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	839.33	33	chr20	2102157	.	G	T	839.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.78;DP=763;ExcessHet=0;FS=0.956;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.32;ReadPosRankSum=1.6;SOR=0.892	GT:AD:DP:GQ:PL	0/1:32,31:63:99:853,0,788	18	0	1	0
chr20	2400304	2400304	A	C	splicing	TGM6	NM_198994:exon7:c.851-2A>C;NM_001254734:exon7:c.851-2A>C	.	.	Spinocerebellar ataxia 35, Autosomal dominant	1	1520	1	0	0	1	0.000328839	1.0000	0.926	.	985378	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	8.253e-06	0	0	0	0	0	0	6.056e-05	6.5e-06	1	154602	rs748484145	6.157e-06	6.156e-06	2.722e-06	9.626e-06	1.159e-05	2.9e-06	2.1e-06	3.1e-06	2.24e-06	0	0	0	0	0	0	7.194e-06	0	1.159e-05	1.971e-05	1.97e-05	3.854e-05	0	4.41e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.230249	0.76745	D	0.189814	0.82559	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	6.921989	0.95916	35	0.99393354223083763	0.62428	0.99444	0.96106	D	AEFDBI	.	.	.	1.04080087616754	0.96868	15.25454	0.862150831096984	0.93705	12.22317	0.985094853363522	0.30828	0.056701	0.00814	0	0.060609	0.00678	0	0.074216	0.02223	0	0.062806	0.01542	0	0.975846	0.78896	4.6	4.6	0.56512	9.267000	0.94815	11.221000	0.89777	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.643000	0.32503	1.0:0.0:0.0:0.0	12.256	0.53943	815	0.41851	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1558.33	36	chr20	2400304	.	A	C	1558.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.377;DP=716;ExcessHet=0;FS=0.875;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.51;ReadPosRankSum=-0.825;SOR=0.836	GT:AD:DP:GQ:PL	0/1:30,59:89:99:1572,0,660	18	0	1	0
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	.	.	.	.	.	.	.	.	0.4118	3174.68	176	chr20	3803192	.	G	C	3174.68	.	AC=14;AF=0.412;AN=34;BaseQRankSum=-1.235;DP=2216;ExcessHet=17.0548;FS=208.448;InbreedingCoeff=-0.6531;MLEAC=15;MLEAF=0.441;MQ=60;MQRankSum=0;QD=2.1;ReadPosRankSum=2.04;SOR=13.387	GT:AD:DP:GQ:PL	0/1:46,41:95:99:321,0,572	3	0	14	2
chr20	3889480	3889480	G	T	exonic	PANK2	.	nonsynonymous SNV	PANK2:NM_001324192:exon1:c.G380T:p.G127V,PANK2:NM_153638:exon1:c.G380T:p.G127V	HARP syndrome, Autosomal recessive;Neurodegeneration with brain iron accumulation 1, Autosomal recessive	2	1488	32	0	0	32	0.0106383	.	.	.	270080	PANK2-related_disorder|not_provided|Pigmentary_pallidal_degeneration|not_specified	.|MedGen:C3661900|MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200,Orphanet:157850|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.461	.	.	0.00319489	0.0046	0	0.0019	0	0	0.0009	0	0.0140	0.0011319	175	154602	rs528149001	0.0008	0.0008	0.0006	0.0010	0.0083	0.0008	0.0008	0.0077	0.0075	0.0002	0.0003	0.0005	0	0	0.0052	0.0004	0.0011	0.0083	0.0007	0.0007	0.0006	0.0007	0.0095	0.0006	0.0005	0.0073	0.0066	7.213e-05	0	0.0007	0	0	0	0	0.0006	0.0019	0.0095	0.005	0.63226	D	0.02	0.92824	D	0.614	0.39766	P	0.435	0.45529	B	0.007549	0.31331	N	0.149705	0.999904	0.81001	D	0	0.06538	N	-4.65	0.97938	D	-0.51	0.15986	N	0.431	0.49965	0.759	0.93903	D	0.812	0.93676	D	10	0.008071929	0.00183	T	.	.	.	0.461	0.75822	.	.	0.977251892827	0.97700	0.1533525734882303	0.15257	0.618344074146	0.56229	0.802133798599	0.82288	T	0.223434	0.58758	T	-0.159559	0.26827	T	0.00315517	0.70540	D	0.0831932129315805	0.10390	T	0.79572	0.43862	T	0.21505176	0.43928	0.31713855	0.57690	0.23967786	0.46861	0.25087205	0.50685	-4.738	0.33860	T	.	.	0.137	0.33958	B	.;.	.;.	3.292699	0.45166	22.1	0.99225521608074152	0.56057	0.87317	0.46819	D	AEFGBHCIJ	0.231275	0.35453	N	0.141082686965267	0.48390	3.051896	0.261891049211992	0.53330	3.502367	0.999999999999993	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	4.73	4.73	0.59485	2.080000	0.41211	3.420000	0.38245	0.655000	0.54021	0.995000	0.38783	1.000000	0.68203	0.973000	0.55318	0.0:0.0:1.0:0.0	13.455	0.60645	668	0.61153	.;.	.	.	.	.	.	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	0.008359	0.000000	0.004178	0.000000	0.000000	0.017544	0.038961	0.000000	0.05263	2507.83	36	chr20	3889480	.	G	T	2507.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.759;DP=862;ExcessHet=0.119;FS=4.63;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=15.11;ReadPosRankSum=0.423;SOR=1.056	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:30,48:78:99:0|1:3889477_G_C:1355,0,698:3889477	17	0	2	0
chr20	16515652	16515652	G	A	exonic	KIF16B	.	nonsynonymous SNV	KIF16B:NM_001199865:exon4:c.C244T:p.L82F,KIF16B:NM_001199866:exon4:c.C244T:p.L82F,KIF16B:NM_024704:exon4:c.C244T:p.L82F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.609	0.0523454252223	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.65419	D	0.004	0.74150	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.895	0.83812	M	-0.77	0.73523	T	-3.65	0.73042	D	0.766	0.76388	0.302	0.87592	D	0.621	0.86659	D	10	0.7459062	0.75286	D	0.052345	0.65033	D	0.609	0.84666	0.725	0.85937	0.920648974355	0.91985	0.7201589739235272	0.71958	1.409654094	0.85419	0.64826130867	0.59739	T	0.697153	0.91247	D	0.0466395	0.57910	T	-0.170782	0.57372	T	0.994046449661255	0.85117	D	0.957404	0.84924	D	0.47978923	0.65887	0.4440372	0.67599	0.47978923	0.65888	0.4440372	0.67600	-11.71	0.83410	D	.	.	0.693	0.73359	P	.;.;.	.;.;.	4.848976	0.79243	27.1	0.99901554781469681	0.97350	0.95528	0.65080	D	AEFIJ	0.401125	0.47574	N	0.793881050193594	0.85720	8.661534	0.755726669268876	0.86584	8.936365	0.127433174748637	0.17019	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.47	5.47	0.80345	4.041000	0.57051	9.878000	0.82178	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0:1.0:0.0	19.692	0.96003	905	0.23532	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	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1406.33	38	chr20	16515652	.	G	A	1406.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.392;DP=737;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.39;ReadPosRankSum=-2.946;SOR=0.627	GT:AD:DP:GQ:PL	0/1:47,58:105:99:1420,0,1161	18	0	1	0
chr20	25478956	25478956	G	A	exonic	NINL	.	nonsynonymous SNV	NINL:NM_001318226:exon16:c.C2168T:p.A723V,NINL:NM_025176:exon16:c.C2168T:p.A723V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.00573707284125	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.605e-06	8.209e-06	1.388e-06	9.906e-06	3.537e-05	2.41e-06	1.74e-06	9.4e-06	4.61e-06	0	0	0	0	0	0	4.565e-06	0	3.537e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.106	0.29688	T	0.276	0.21947	T	0.025	0.25085	B	0.021	0.24114	B	0.000241	0.00537	N	3.458170	1	0.08975	N	0.46	0.12951	N	1.54	0.33630	T	-1.11	0.28703	N	0.145	0.14622	-1.0454	0.15709	T	0.061	0.25455	T	10	0.043334424	0.03172	T	0.005737	0.14892	T	0.034	0.08419	0.239	0.17065	0.112648838833	0.10856	0.11576815670269436	0.11504	0.127220965103	0.14337	0.393802165985	0.24204	T	0.003884	0.03292	T	-0.211874	0.19117	T	-0.542119	0.18088	T	0.133775161735284	0.15726	T	0.587941	0.21519	T	0.021786185	0.00800	0.05039239	0.07900	0.021786185	0.00800	0.05039239	0.07900	-4.77	0.34240	T	.	.	0.210	0.43748	B	.;.	.;.	2.323616	0.29754	18.22	0.99456806883462068	0.65581	0.10697	0.16129	N	AEFDBI	0.048004	0.08146	N	-1.03271723652205	0.07931	0.370134	-1.02186484631273	0.09305	0.4621772	0.999371387360646	0.39355	0.706548	0.73137	0	0.547309	0.14657	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	4.15	2.19	0.26890	0.518000	0.22554	5.602000	0.49028	-0.109000	0.15193	0.104000	0.22875	1.000000	0.68203	0.094000	0.17991	0.1045:0.0:0.697:0.1985	5.375	0.15460	575	0.70088	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	3415.81	35	chr20	25478956	.	G	A	3415.81	.	AC=2;AF=0.053;AN=38;DP=736;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=30.5;SOR=0.884	GT:AD:DP:GQ:PL	1/1:0,112:112:99:3443,336,0	18	1	0	0
chr20	33018292	33018292	G	A	exonic	BPIFB2	.	nonsynonymous SNV	BPIFB2:NM_025227:exon8:c.G611A:p.R204H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.00427615044387	7.7e-05	0.000199681	0.0003	9.632e-05	8.642e-05	0	0.0003	0.0004	0.0011	0	0.0002652	41	154602	rs199759889	0.0002	0.0002	0.0002	0.0003	0.0003	0.0002	0.0002	0.0002	0.0002	0.0002	4.472e-05	0.0008	0	0.0002	0.0002	0.0003	0.0001	0	0.0002	0.0002	0.0003	0.0002	0.0004	0.0002	0.0001	0.0002	0.0002	7.218e-05	0	0	0.0014	0	0	0	0.0004	0.0005	0	0.053	0.38863	T	0.154	0.32040	T	0.02	0.18235	B	0.005	0.11217	B	0.001545	0.38671	N	0.118738	0.961309	0.26112	N	1.975	0.53506	M	3.58	0.04594	T	-1.32	0.32991	N	0.247	0.27910	-1.0342	0.19109	T	0.017	0.06759	T	10	0.07183874	0.10643	T	0.004276	0.10341	T	0.037	0.09474	.	.	0.0138822411134	0.00435	0.321888993178463	0.32101	0.220656407974	0.24609	0.330320000648	0.14983	T	0.022697	0.17455	T	-0.561757	0.00248	T	-0.68612	0.06616	T	0.0267092021481087	0.01504	T	0.708429	0.31914	T	0.038424276	0.05115	0.04054111	0.04406	0.038424276	0.05114	0.04054111	0.04405	-2.811	0.08285	T	.	.	0.098	0.16451	B	.	.	2.102779	0.26757	17.23	0.96687777309965606	0.30726	0.60304	0.31157	D	AEFDBCI	0.110030	0.21833	N	-0.531552502027561	0.21066	1.11526	-0.476909259844568	0.22792	1.239674	0.091384474388462	0.16133	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.17	3.23	0.36150	1.543000	0.35754	1.445000	0.26559	-0.119000	0.14319	0.989000	0.36753	0.864000	0.27519	0.209000	0.22154	0.188:0.0:0.812:0.0	7.739	0.27996	102	0.95784	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.05263	3556.81	39	chr20	33018292	.	G	A	3556.81	.	AC=2;AF=0.053;AN=38;DP=740;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=28.23;SOR=0.826	GT:AD:DP:GQ:PL	1/1:0,126:126:99:3584,377,0	18	1	0	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	.	.	.	.	.	.	.	.	0.4474	4376.86	158	chr20	34852409	.	G	C	4376.86	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-3.129;DP=2851;ExcessHet=31.086;FS=291.473;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=60;MQRankSum=0;QD=1.76;ReadPosRankSum=0.306;SOR=13.781	GT:AD:DP:GQ:PL	0/1:75,56:139:99:503,0,1062	2	0	17	0
chr20	38239704	38239704	G	A	exonic	KIAA1755	.	nonsynonymous SNV	KIAA1755:NM_001029864:exon4:c.C1571T:p.T524I,KIAA1755:NM_001348708:exon4:c.C728T:p.T243I	.	426	1075	21	0	0	21	0.00967296	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	.	0.0060	0.00239617	0.0067	0.0016	0.0041	0.0001	0.0009	0.0097	0.0112	0.0049	0.0069339	1072	154602	rs11699859	0.0086	0.0086	0.0087	0.0086	0.0231	0.0085	0.0084	0.0199	0.0187	0.0021	0.0048	0.0250	5.038e-05	0.0012	0.0231	0.0095	0.0090	0.0042	0.0061	0.0061	0.0064	0.0057	0.0091	0.0057	0.0056	0.0085	0.0083	0.0017	0	0.0058	0.0239	0	0.0004	0.0238	0.0091	0.0142	0.0046	0.262	0.16466	T	0.534	0.11263	T	0.998	0.73220	D	0.994	0.82059	D	0.015797	0.28151	N	0.252227	0.730195	0.29837	N	1.67	0.42885	L	3.37	0.05847	T	-1.64	0.39314	N	0.238	0.26837	-1.1234	0.02127	T	0.025	0.10553	T	10	0.0070616305	0.00160	T	.	.	.	0.059	0.16972	.	.	0.345859378078	0.34197	0.3229361013259496	0.32206	0.233706323324	0.25904	0.442297697067	0.30891	T	0.003369	0.02778	T	-0.5648	0.00238	T	-0.573041	0.15172	T	0.0375556806196899	0.03253	T	0.645335	0.25688	T	0.074009895	0.16579	0.094342776	0.22328	0.074009895	0.16579	0.094342776	0.22327	-5.189	0.38830	T	.	.	0.173	0.37932	B	.;.	.;.	4.250465	0.64514	24.7	0.87617255068720179	0.17357	0.74879	0.36642	D	AEFDBIJ	0.298890	0.40808	N	0.401004633049871	0.61479	4.349444	0.362794296047759	0.59280	4.104712	0.061314928042297	0.15227	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.586402	0.36253	0	.	.	4.43	3.48	0.38946	3.181000	0.50603	5.503000	0.48778	0.667000	0.69007	1.000000	0.71638	1.000000	0.68203	0.730000	0.35099	0.1125:0.0:0.8875:0.0	7.662	0.27573	898	0.25240	.;.	.	.	KIAA1755	Artery_Aorta	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.017623	0.000000	0.023098	0.029240	0.050000	0.017241	0.024390	0.007576	0.05263	2804.81	35	chr20	38239704	.	G	A	2804.81	.	AC=2;AF=0.053;AN=38;DP=748;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=30.49;SOR=0.878	GT:AD:DP:GQ:PL	1/1:0,92:92:99:2832,276,0	18	1	0	0
chr20	45480024	45480024	G	T	exonic	WFDC2	.	nonsynonymous SNV	WFDC2:NM_006103:exon3:c.G306T:p.Q102H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	0.0382341307259	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.37750	T	0.123	0.35582	T	0.029	0.29776	B	0.028	0.30579	B	0.093717	0.20210	N	0.412732	0.872603	0.35592	D	2.09	0.57893	M	-0.67	0.72458	T	-3.12	0.63782	D	0.306	0.38643	-0.6055	0.64590	T	0.247	0.61589	T	10	0.28086698	0.45663	T	0.038234	0.58102	D	0.149	0.39377	0.471	0.54537	0.336933722576	0.33308	0.5221685699659302	0.52139	0.0289499722451	0.02984	0.274683058262	0.06761	T	0.569711	0.85732	D	-0.0819855	0.39391	T	-0.355543	0.38568	T	0.305690437555313	0.25237	T	0.593841	0.22137	T	0.12134852	0.28538	0.11557813	0.27900	0.12134852	0.28537	0.11557813	0.27900	-6.177	0.47736	T	.	.	0.293	0.56468	B	.;.;.	.;.;.	1.667598	0.21262	15.12	0.98875741623419833	0.47736	0.64526	0.32435	D	AEFDGBI	0.165135	0.29160	N	-0.287323630636605	0.29638	1.645302	-0.190122909273785	0.31898	1.810	0.830975249561637	0.24693	0.706298	0.61202	0	0.659912	0.62753	0	0.709663	0.75317	0	0.542086	0.14980	0	.	.	5.26	4.29	0.50359	0.309000	0.19094	1.374000	0.25980	0.676000	0.76740	0.916000	0.31843	0.239000	0.23838	0.314000	0.24830	0.0:0.1731:0.8269:0.0	12.122	0.53196	939	0.14249	WAP-type 'four-disulfide core' domain|WAP-type 'four-disulfide core' domain|WAP-type 'four-disulfide core' 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	.	.	.	.	.	.	.	.	0.02632	1345.33	33	chr20	45480024	.	G	T	1345.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.46;DP=749;ExcessHet=0;FS=7.813;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.81;ReadPosRankSum=-0.254;SOR=1.465	GT:AD:DP:GQ:PL	0/1:55,50:105:99:1359,0,1307	18	0	1	0
chr20	51516834	51516834	C	G	exonic	NFATC2	.	nonsynonymous SNV	NFATC2:NM_001136021:exon3:c.G1222C:p.G408R,NFATC2:NM_001258292:exon3:c.G1222C:p.G408R,NFATC2:NM_001258294:exon3:c.G625C:p.G209R,NFATC2:NM_001258295:exon3:c.G625C:p.G209R,NFATC2:NM_001258296:exon3:c.G625C:p.G209R,NFATC2:NM_001258297:exon3:c.G625C:p.G209R,NFATC2:NM_012340:exon3:c.G1282C:p.G428R,NFATC2:NM_173091:exon3:c.G1282C:p.G428R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.887	0.291469148357	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.619e-05	0.0007	0.0001	7.042e-05	0.0001	8.278e-05	7.817e-05	9.981e-05	9.381e-05	6.002e-05	0	0	5.044e-05	0	0	0.0001	0.0001	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.9	0.83903	M	-0.72	0.72994	T	-7.31	0.94511	D	0.952	0.97095	0.381	0.88810	D	0.611	0.86246	D	10	0.92848086	0.92191	D	0.291469	0.90578	D	0.887	0.96725	0.754	0.88402	0.90210233382	0.90113	0.8239515636362394	0.82352	1.30562062205	0.83120	0.866135060787	0.92011	D	0.671936	0.90273	D	0.39566	0.89663	D	0.330562	0.89533	D	0.997253000736237	0.91125	D	0.999394	0.99801	D	0.9024346	0.91602	0.87273586	0.93055	0.9024346	0.91603	0.87273586	0.93056	-12.284	0.86643	D	.	.	1.0	0.99952	P	.;.;.;.;.;.	.;.;.;.;.;.	5.540515	0.91959	32	0.99941663280488358	0.99797	0.98728	0.86094	D	AEFDBHI	0.897828	0.84044	D	0.916431156634983	0.92541	11.483	0.851822094425726	0.93121	11.83822	0.999999999999247	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.635551	0.53088	0	.	.	5.25	5.25	0.73169	7.900000	0.86025	7.651000	0.63703	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.964000	0.52637	0.0:1.0:0.0:0.0	18.871	0.92287	957	0.09725	.;Rel homology domain (RHD), DNA-binding domain|Rel homology domain (RHD), DNA-binding domain;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3667	1005.35	57	chr20	51516834	.	C	G	1005.35	.	AC=11;AF=0.367;AN=30;BaseQRankSum=-1.047;DP=1441;ExcessHet=8.9063;FS=279.737;InbreedingCoeff=-0.4889;MLEAC=12;MLEAF=0.4;MQ=60;MQRankSum=0;QD=1.24;ReadPosRankSum=0.596;SOR=11.305	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:43,18:63:62:.:.:62,0,684:.	4	0	11	4
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	.	.	.	.	.	.	.	.	0.5	70838.3	366	chr21	13610565	.	G	A	70838.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=3;DP=4790;ExcessHet=8.2795;FS=1.103;InbreedingCoeff=-0.3684;MLEAC=19;MLEAF=0.5;MQ=54.86;MQRankSum=-8.431;QD=15.65;ReadPosRankSum=0.808;SOR=0.764	GT:AD:DP:GQ:PL	0/1:164,155:319:99:3849,0,3888	3	3	13	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	0.5	51549.3	311	chr21	13610631	.	A	G	51549.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-1.175;DP=3934;ExcessHet=8.2795;FS=4.175;InbreedingCoeff=-0.3684;MLEAC=19;MLEAF=0.5;MQ=50.54;MQRankSum=-13.57;QD=13.93;ReadPosRankSum=0.36;SOR=1.018	GT:AD:DP:GQ:PL	0/1:167,107:274:99:2442,0,4605	3	3	13	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	.	.	.	.	.	.	.	.	0.5526	47375.2	161	chr21	13641414	.	A	G	47375.2	.	AC=21;AF=0.553;AN=38;BaseQRankSum=-2.158;DP=2954;ExcessHet=3.6106;FS=1.192;InbreedingCoeff=-0.1709;MLEAC=21;MLEAF=0.553;MQ=58.14;MQRankSum=-1.219;QD=17.04;ReadPosRankSum=0.529;SOR=0.59	GT:AD:DP:GQ:PL	1/1:0,207:207:99:5914,620,0	3	5	11	0
chr21	29327316	29327316	A	T	exonic	BACH1	.	nonsynonymous SNV	BACH1:NM_001186:exon3:c.A1492T:p.I498F,BACH1:NM_206866:exon3:c.A1492T:p.I498F	.	432	1088	2	0	0	2	0.000918274	.	.	.	3190784	BACH1-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.069	0.0413214529193	0.0009	0.00119808	0.0013	0.0008	0.0010	0	0	0.0017	0.0022	0.0013	0.001216	188	154602	rs151321858	0.0010	0.0010	0.0009	0.0010	0.0055	0.0009	0.0009	0.0040	0.0035	0.0005	0.0021	0.0220	0	1.872e-05	0.0055	0.0004	0.0024	0.0016	0.0014	0.0014	0.0011	0.0016	0.0040	0.0012	0.0012	0.0032	0.0029	0.0009	0	0.0040	0.0193	0	0	0.0136	0.0004	0.0019	0.0027	0.005	0.63226	D	0.063	0.45110	T	0.997	0.70673	D	0.888	0.63021	P	0.000018	0.62929	D	0.070468	0.999947	0.51968	D	2.38	0.68558	M	-0.71	0.72889	T	-1.31	0.32791	N	0.716	0.73105	-0.2372	0.76699	T	0.342	0.70729	T	10	0.010410577	0.00232	T	0.041321	0.59861	D	0.322	0.64420	.	.	0.910146174923	0.90925	0.19607768989685026	0.19524	0.604412416772	0.55380	0.708838045597	0.68426	T	0.18516	0.53805	T	-0.1449	0.29113	T	0.0129178	0.71171	D	0.0256120633752213	0.01354	T	0.893511	0.63097	D	0.15973087	0.35866	0.1709302	0.39238	0.15973087	0.35865	0.1709302	0.39238	-7.138	0.55035	T	.	.	0.207	0.43338	B	.;.	.;.	5.496218	0.91538	32	0.98843912826624536	0.47169	0.81493	0.40885	D	AEFDBCI	0.287083	0.39932	N	0.577245395748119	0.71757	5.69954	0.584498164258986	0.73830	6.034801	0.999999968259177	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.48	5.48	0.80675	3.720000	0.54661	11.190000	0.88630	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.970000	0.54328	1.0:0.0:0.0:0.0	15.58	0.76168	969	0.06854	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005035	0.005051	0.004076	0.011696	0.050000	0.008621	0.000000	0.000000	0.02632	2481.33	34	chr21	29327316	.	A	T	2481.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.952;DP=824;ExcessHet=0;FS=2.447;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.53;ReadPosRankSum=0.551;SOR=0.905	GT:AD:DP:GQ:PL	0/1:96,102:198:99:2495,0,2287	18	0	1	0
chr21	30215474	30215474	G	A	exonic	CLDN8	.	nonsynonymous SNV	CLDN8:NM_199328:exon1:c.C452T:p.S151L	.	.	.	.	.	.	.	.	.	.	.	3306650	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.372	0.0329379152903	.	.	9.109e-05	0	8.684e-05	0	0	0.0002	0	0	9.06e-05	14	154602	rs769259130	8.688e-05	8.687e-05	8.849e-05	8.526e-05	0.0001	7.421e-05	6.969e-05	9.115e-05	8.526e-05	2.987e-05	6.708e-05	0	0	0	0	0.0001	4.968e-05	1.159e-05	6.576e-05	6.568e-05	3.855e-05	9.426e-05	0.0001	3.519e-05	2.618e-05	6.805e-05	5.088e-05	0	0	0	0	0	0	0	0.0001	0.0005	0	0.001	0.78490	D	0.001	0.83351	D	0.004	0.12183	B	0.006	0.12133	B	0.000001	0.84330	D	0.056944	0.961058	0.26122	N	0.305	0.10234	N	-2.5	0.89219	D	-1.95	0.45222	N	0.261	0.29544	-0.4096	0.71723	T	0.481	0.80185	T	10	0.18960968	0.34568	T	0.032938	0.54627	D	0.372	0.69102	0.548	0.66296	0.86219379781	0.86086	0.6671098506881097	0.66648	0.0585518923668	0.06494	0.590660214424	0.51587	T	0.322479	0.69348	T	-0.147985	0.28628	T	-0.195301	0.55092	T	0.24677651140299	0.22729	T	0.945705	0.79334	D	0.4023494	0.60895	0.41432354	0.65579	0.4023494	0.60896	0.41432354	0.65579	-5.471	0.41596	T	.	.	0.187	0.40424	B	.	.	3.801111	0.54768	23.5	0.99685569152397246	0.79574	0.99102	0.91255	D	AEFBI	0.912562	0.87335	D	-0.0759250273294149	0.38452	2.252206	0.0861485902657875	0.43849	2.678353	0.99999999999995	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.84	4.84	0.62125	9.894000	0.98600	11.744000	0.95258	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.131000	0.19607	0.0:0.0:1.0:0.0	18.110	0.89462	439	0.80177	.	.	.	.	.	.	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	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2287.33	33	chr21	30215474	.	G	A	2287.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.958;DP=790;ExcessHet=0;FS=0.602;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.05;ReadPosRankSum=0.569;SOR=0.617	GT:AD:DP:GQ:PL	0/1:68,84:152:99:2301,0,1632	18	0	1	0
chr21	32322486	32322486	C	T	exonic	URB1	.	nonsynonymous SNV	URB1:NM_014825:exon33:c.G5332A:p.D1778N	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.179	0.0086834347361	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs184808667	2.286e-05	2.257e-05	1.691e-05	2.897e-05	0.0023	1.654e-05	1.416e-05	0.0013	0.0011	9.494e-05	0	0	0	0	0.0023	1.019e-05	5.157e-05	2.525e-05	1.971e-05	1.97e-05	0	4.035e-05	4.825e-05	5.24e-06	2.45e-06	8e-06	2.99e-06	4.825e-05	0	0	0	0	0	0	1.47e-05	0	0	0.083	0.33091	T	0.022	0.57587	D	1.0	0.90584	D	0.983	0.75793	D	0.000011	0.62929	N	0.176960	0.999863	0.50061	D	2	0.54354	M	1.31	0.35405	T	-1.88	0.43906	N	0.227	0.25499	-0.9041	0.47550	T	0.171	0.51277	T	10	0.21257818	0.37722	T	0.008683	0.22927	T	0.179	0.44899	0.503	0.59615	0.0920862733494	0.08535	0.30777526652253534	0.30690	.	.	0.427598953247	0.28881	T	0.008664	0.07944	T	-0.341228	0.05303	T	-0.600148	0.12799	T	0.309134483337402	0.25378	T	0.748625	0.36937	T	0.12138062	0.28544	0.10819351	0.26060	0.12138062	0.28544	0.10819351	0.26059	-2.47	0.05580	T	.	.	0.081	0.08129	B	.	.	3.647089	0.51738	23.1	0.997751357722924	0.86260	0.95622	0.65460	D	AEFBCI	0.490589	0.52801	N	0.130850224200627	0.47906	3.009874	0.0326269150795211	0.41241	2.474318	0.999999504171763	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.98	3.17	0.35510	4.305000	0.58905	3.276000	0.37195	-0.182000	0.10109	0.999000	0.42656	0.998000	0.33993	0.601000	0.31412	0.0:0.8479:0.0:0.1521	11.049	0.47093	913	0.21160	Nucleolar pre-ribosomal-associated protein 1, 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	0.008255	0.000000	0.027397	0.013393	0.000000	0.000000	0.000000	0.000000	0.02632	1664.33	34	chr21	32322486	.	C	T	1664.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.63;DP=786;ExcessHet=0;FS=2.997;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.56;ReadPosRankSum=0.739;SOR=0.976	GT:AD:DP:GQ:PL	0/1:76,68:144:99:1678,0,1804	18	0	1	0
chr21	41918930	41918930	C	G	exonic	C2CD2	.	nonsynonymous SNV	C2CD2:NM_199050:exon3:c.G58C:p.D20H,C2CD2:NM_015500:exon4:c.G523C:p.D175H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.184	0.0154551292841	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.655e-05	0.0018	8.339e-05	4.965e-05	7.588e-05	5.548e-05	5.15e-05	6.221e-05	5.689e-05	6.157e-05	0	0	2.542e-05	0	0	7.588e-05	0.0001	2.345e-05	0	1.972e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.081	0.39575	T	0.008	0.69154	D	0.991	0.64070	D	0.635	0.51908	P	0.000159	0.49130	D	0.177285	0.997695	0.47157	D	.	.	.	1.75	0.26301	T	-3.35	0.67241	D	0.495	0.52829	-1.0406	0.17132	T	0.094	0.35578	T	10	0.36435574	0.52982	T	0.015455	0.36203	T	0.184	0.45763	0.5	0.59147	0.412715890961	0.40891	0.48026109495753466	0.47946	0.939492545994	0.72166	0.386622190475	0.23192	T	0.11001	0.42436	T	-0.0654905	0.42045	T	-0.331849	0.41263	T	0.957460343837738	0.65017	D	0.80112	0.44691	T	0.13993374	0.32304	0.19344127	0.42913	0.13993374	0.32304	0.19344127	0.42912	-4.866	0.35351	T	.	.	0.297	0.52720	B	.;.	.;.	3.167608	0.42947	21.6	0.98968893955553749	0.49481	0.97817	0.77351	D	AEFGBCI	0.178683	0.30595	N	0.120232727473123	0.47407	2.966873	0.0765168796991302	0.43369	2.640186	0.999806047820681	0.43304	0.706548	0.73137	0	0.702456	0.74545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.53	4.65	0.57626	2.712000	0.46854	2.536000	0.33191	-0.193000	0.09282	0.998000	0.41325	0.990000	0.31317	0.261000	0.23543	0.0:0.9112:0.0:0.0888	10.542	0.44226	985	0.02828	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3889	2032.79	96	chr21	41918930	.	C	G	2032.79	.	AC=14;AF=0.389;AN=36;BaseQRankSum=-2.78;DP=1565;ExcessHet=17.0548;FS=105.468;InbreedingCoeff=-0.617;MLEAC=14;MLEAF=0.389;MQ=60;MQRankSum=0;QD=1.67;ReadPosRankSum=0.897;SOR=10.419	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:58,20:78:99:0|1:41918930_C_G:317,0,1982:41918930	4	0	14	1
chr21	41918931	41918931	C	G	exonic	C2CD2	.	nonsynonymous SNV	C2CD2:NM_199050:exon3:c.G57C:p.E19D,C2CD2:NM_015500:exon4:c.G522C:p.E174D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.00492569628037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.451e-05	0.0016	7.555e-05	5.341e-05	7.873e-05	5.358e-05	4.967e-05	6.511e-05	5.999e-05	6.098e-05	0	0	0	0	0	7.873e-05	6.752e-05	1.17e-05	0	1.971e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.236	0.18061	T	0.601	0.07919	T	0.026	0.19406	B	0.018	0.18489	B	0.000050	0.53742	N	0.125982	0.99197	0.25906	N	.	.	.	1.63	0.29342	T	-1.04	0.27259	N	0.215	0.24010	-1.0662	0.10269	T	0.041	0.17530	T	10	0.08271399	0.13680	T	0.004926	0.12380	T	0.072	0.21020	0.35	0.34760	0.220303561663	0.21668	0.1572690006054573	0.15647	0.316597008402	0.33914	0.371157944202	0.20998	T	0.066614	0.32991	T	-0.190454	0.22190	T	-0.51135	0.21176	T	0.0971272264662142	0.12037	T	0.621038	0.23867	T	0.06723062	0.14539	0.068933986	0.14461	0.06723062	0.14538	0.068933986	0.14461	-4.061	0.26403	T	.	.	0.138	0.30076	B	.;.	.;.	-0.008587	0.04225	1.036	0.97585889396706837	0.34764	0.55769	0.29947	D	AEFGBCI	0.075069	0.15065	N	-1.00383072654947	0.08524	0.3999859	-1.03972205038638	0.08921	0.4411397	0.987282828575251	0.31228	0.706548	0.73137	0	0.702456	0.74545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.53	-3.89	0.03916	-2.263000	0.01256	-2.617000	0.03544	0.599000	0.40250	0.001000	0.13787	0.000000	0.08366	0.255000	0.23391	0.0:0.2473:0.135:0.6177	7.143	0.24745	985	0.02828	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3889	2022.74	96	chr21	41918931	.	C	G	2022.74	.	AC=14;AF=0.389;AN=36;BaseQRankSum=-2.847;DP=1558;ExcessHet=17.0548;FS=106.404;InbreedingCoeff=-0.6166;MLEAC=14;MLEAF=0.389;MQ=60;MQRankSum=0;QD=1.66;ReadPosRankSum=1.13;SOR=10.419	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:59,20:79:99:0|1:41918930_C_G:315,0,1989:41918930	4	0	14	1
chr21	41918933	41918933	C	G	exonic	C2CD2	.	nonsynonymous SNV	C2CD2:NM_199050:exon3:c.G55C:p.E19Q,C2CD2:NM_015500:exon4:c.G520C:p.E174Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.0219031869935	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.478e-05	0.0011	4.439e-05	2.512e-05	4.037e-05	2.676e-05	2.415e-05	3.06e-05	2.725e-05	3.035e-05	0	0	0	0	0	4.037e-05	6.709e-05	1.166e-05	0	6.568e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.094	0.31383	T	0.077	0.42436	T	0.993	0.65571	D	0.796	0.58006	P	0.000050	0.53742	D	0.125982	0.558298	0.35134	D	.	.	.	1.45	0.34050	T	-1.93	0.45404	N	0.445	0.48319	-0.8942	0.48558	T	0.124	0.42799	T	10	0.385596	0.54516	T	0.021903	0.44729	T	0.123	0.34020	0.335	0.32329	0.475272412942	0.47157	0.2669297999209157	0.26605	0.875831749287	0.69562	0.368384510279	0.20599	T	0.169624	0.51706	T	-0.071456	0.41094	T	-0.340418	0.40296	T	0.892000317573547	0.54302	D	0.780422	0.42483	T	0.12762854	0.29860	0.090659045	0.21273	0.12762854	0.29860	0.090659045	0.21273	-4.173	0.26359	T	.	.	0.172	0.37802	B	.;.	.;.	3.657104	0.51934	23.2	0.99734899065078686	0.83047	0.98645	0.85080	D	AEFGBCI	0.411583	0.48200	N	0.342246259245579	0.58331	4.00473	0.324919729865026	0.57008	3.865243	0.999999844603992	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.53	5.53	0.82530	5.201000	0.64999	4.599000	0.43989	0.599000	0.40250	0.989000	0.36753	1.000000	0.68203	0.215000	0.22324	0.0:1.0:0.0:0.0	14.966	0.70847	985	0.02828	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3684	1945.18	98	chr21	41918933	.	C	G	1945.18	.	AC=14;AF=0.368;AN=38;BaseQRankSum=-3.313;DP=1548;ExcessHet=17.0548;FS=103.494;InbreedingCoeff=-0.5813;MLEAC=14;MLEAF=0.368;MQ=60;MQRankSum=0;QD=1.61;ReadPosRankSum=1.16;SOR=10.341	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:58,20:78:99:0|1:41918930_C_G:318,0,1955:41918930	5	0	14	0
chr21	42084219	42084219	G	A	exonic	UMODL1	.	nonsynonymous SNV	UMODL1:NM_001004416:exon3:c.G455A:p.R152H,UMODL1:NM_001199527:exon3:c.G239A:p.R80H,UMODL1:NM_001199528:exon3:c.G239A:p.R80H,UMODL1:NM_173568:exon3:c.G455A:p.R152H	.	426	1093	3	0	0	3	0.00137049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	.	8.3e-05	0.0071885	0.0036	0.0002	0	0	0	3.039e-05	0	0.0258	0.0030659	474	154602	rs370412237	0.0014	0.0014	0.0008	0.0020	0.0219	0.0014	0.0013	0.0210	0.0207	0.0001	2.236e-05	0	2.519e-05	0	0.0017	4.317e-05	0.0020	0.0219	0.0008	0.0009	0.0006	0.0011	0.0243	0.0007	0.0007	0.0207	0.0194	0.0002	0	6.537e-05	0	0.0002	0	0	2.942e-05	0	0.0243	0.766	0.03451	T	0.539	0.09795	T	0.129	0.27048	B	0.012	0.16012	B	0.969028	0.08172	N	0.982509	1	0.08975	N	-1.255	0.00759	N	-0.8	0.73845	T	1.18	0.01107	N	0.059	0.03069	-0.9726	0.36648	T	0.098	0.36677	T	10	0.0031156242	0.00052	T	.	.	.	0.073	0.21317	.	.	0.278143212241	0.27437	0.19714979247188774	0.19631	0.36322866161	0.37955	0.207250520587	0.00700	T	0.016879	0.13870	T	-0.635297	0.00089	T	-0.667083	0.07796	T	0.0152652137219233	0.00336	T	0.524448	0.17180	T	0.018146686	0.00337	0.02143749	0.00195	0.018146686	0.00336	0.02143749	0.00195	-2.064	0.04040	T	.	.	0.096	0.28664	B	.;.;.;.	.;.;.;.	-1.264181	0.00470	0.010	0.37136119509756238	0.02429	0.00204	0.01168	N	AEFDBI	0.035202	0.04490	N	-1.73519044333638	0.00724	0.03127004	-1.8239507201402	0.00685	0.0305081	0.999987746214749	0.51787	0.497415	0.19182	0	0.547309	0.14657	0	0.315538	0.05692	2	0.542086	0.14980	0	.	.	3.86	-7.71	0.01116	-1.772000	0.01885	-3.476000	0.02758	-0.768000	0.03469	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2518:0.2278:0.3111:0.2094	0.742	0.00913	969	0.06854	.;.;.;WAP-type 'four-disulfide core' domain|WAP-type 'four-disulfide core' domain|WAP-type 'four-disulfide core' 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	0.000000	0.002924	0.000000	0.000000	0.000000	0.022727	0.05263	2680.81	42	chr21	42084219	.	G	A	2680.81	.	AC=2;AF=0.053;AN=38;DP=837;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=29.46;SOR=1.071	GT:AD:DP:GQ:PL	1/1:0,91:91:99:2708,273,0	18	1	0	0
chr21	44637708	44637723	TGTCTGCTGTGTGCCC	0	exonic	KRTAP10-10	.	.	.	.	451	251	178	15	627	835	0.292958	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3529	24382.0	387	chr21	44637708	.	TGTCTGCTGTGTGCCC	*	24382.0	.	AC=12;AF=0.353;AN=34;BaseQRankSum=2.29;DP=6389;ExcessHet=1.4183;FS=0.542;InbreedingCoeff=-0.0358;MLEAC=13;MLEAF=0.382;MQ=59.94;MQRankSum=0;QD=5.44;ReadPosRankSum=0.634;SOR=0.786	GT:AD:DP:GQ:PL	1/1:0,347:347:99:15135,964,0	7	2	8	2
chr21	46431695	46431695	A	T	exonic	PCNT	.	nonsynonymous SNV	PCNT:NM_001315529:exon38:c.A7877T:p.Q2626L,PCNT:NM_006031:exon38:c.A8231T:p.Q2744L	Microcephalic osteodysplastic primordial dwarfism, type II, Autosomal recessive	0	1519	3	0	0	3	0.000986518	.	.	.	2142110	Inborn_genetic_diseases|not_provided|PCNT-related_disorder	MeSH:D030342,MedGen:C0950123|MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.111	0.0132858004339	7.7e-05	0.000199681	5.108e-05	0	0	0	0	3.113e-05	0	0.0002	5.82e-05	9	154602	rs142543426	3.492e-05	3.489e-05	2.316e-05	4.68e-05	0.0012	2.699e-05	2.44e-05	0.0006	0.0004	0	0	0	0	0	0.0012	8.096e-06	4.971e-05	0.0004	5.251e-05	5.249e-05	2.569e-05	8.053e-05	0.0006	2.555e-05	1.828e-05	0.0002	8.985e-05	0	0	6.531e-05	0	0	0	0	5.88e-05	0	0.0006	0.1	0.30515	T	0.176	0.29843	T	0.958	0.54977	D	0.534	0.48679	P	0.366680	0.13589	N	0.554792	0.83823	0.28667	N	2.565	0.75005	M	2.8	0.11082	T	-5.23	0.83899	D	0.347	0.38848	-1.0707	0.09260	T	0.035	0.14857	T	10	0.1588183	0.29856	T	0.013286	0.32578	T	0.111	0.31313	.	.	0.451213972277	0.44741	0.374054814721335	0.37319	0.194200511898	0.21755	0.315383970737	0.12721	T	0.300111	0.67262	T	-0.361619	0.04039	T	-0.465068	0.26050	T	0.279299974441528	0.24142	T	0.587141	0.21465	T	0.13212593	0.30775	0.15255211	0.35887	0.13212593	0.30775	0.15255211	0.35886	-7.268	0.55967	T	.	.	0.266	0.50054	B	.	.	2.378923	0.30534	18.47	0.98412288370857459	0.41191	0.75097	0.36755	D	AEFDBI	0.078723	0.15888	N	-0.367961102554833	0.26617	1.454048	-0.377737687362284	0.25663	1.412633	0.99822739413317	0.36603	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.32	1.5	0.22029	0.989000	0.29229	4.353000	0.43094	-0.040000	0.17491	0.977000	0.34929	1.000000	0.68203	0.053000	0.15439	0.7883:0.0:0.2117:0.0	9.251	0.36716	976	0.04745	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1193.33	38	chr21	46431695	.	A	T	1193.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.752;DP=735;ExcessHet=0;FS=3.893;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.83;ReadPosRankSum=-0.781;SOR=0.395	GT:AD:DP:GQ:PL	0/1:48,45:93:99:1207,0,1355	18	0	1	0
chr21	46432075	46432075	T	G	exonic	PCNT	.	nonsynonymous SNV	PCNT:NM_006031:exon38:c.T8611G:p.L2871V	Microcephalic osteodysplastic primordial dwarfism, type II, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.00703547058174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.177	0.22224	T	0.387	0.15650	T	0.247	0.31125	B	0.077	0.28532	B	.	.	.	.	1	0.08975	N	1.845	0.48678	L	4.4	0.02215	T	-1.16	0.29727	N	0.093	0.07262	-0.9059	0.47343	T	0.004	0.01295	T	9	0.046727985	0.03899	T	0.007035	0.18621	T	0.008	0.00669	0.204	0.11936	0.152612264143	0.14878	0.044117822436997724	0.04355	0.0819930394997	0.09240	0.303802132607	0.10971	T	0.124832	0.45013	T	-0.296844	0.08961	T	-0.664173	0.07988	T	0.143162325497243	0.16544	T	0.417258	0.10990	T	0.03074506	0.02791	0.049629398	0.07625	0.03074506	0.02790	0.049629398	0.07624	-6.541	0.50602	T	.	.	0.129	0.27493	B	.	.	1.169601	0.15592	11.96	0.98442630139806286	0.41531	0.12043	0.17024	N	AEFDBI	0.097743	0.19708	N	-1.29613267026673	0.03722	0.1667582	-1.36467233759722	0.03635	0.1700078	0.999986061289237	0.51787	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	4.67	-3.92	0.03880	-0.334000	0.07927	-0.044000	0.12631	-0.123000	0.13640	0.000000	0.06391	0.001000	0.17328	0.090000	0.17789	0.0:0.4146:0.2404:0.345	6.851	0.23194	976	0.04745	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1450.33	41	chr21	46432075	.	T	G	1450.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.881;DP=963;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.9;ReadPosRankSum=-0.271;SOR=0.689	GT:AD:DP:GQ:PL	0/1:73,60:133:99:1464,0,1763	18	0	1	0
chr21	46549874	46549874	C	T	exonic	DIP2A	.	nonsynonymous SNV	DIP2A:NM_001146116:exon22:c.C2614T:p.R872C,DIP2A:NM_001353942:exon22:c.C2629T:p.R877C,DIP2A:NM_001353943:exon22:c.C2626T:p.R876C,DIP2A:NM_015151:exon22:c.C2626T:p.R876C,DIP2A:NM_206889:exon22:c.C2626T:p.R876C	.	411	1110	1	0	0	1	0.000450248	.	.	.	2391365	not_specified	MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.239	0.0317768614319	0.0002	.	0.0001	0	0	0.0001	0.0002	0.0002	0	0	0.0001423	22	154602	rs199807759	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	8.961e-05	2.236e-05	0	7.557e-05	3.92e-05	0	0.0002	0.0001	1.159e-05	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	0.0001	0.0002	0.0002	2.405e-05	0	6.533e-05	0	0	0.0003	0	0.0004	0	0	0.003	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.125	0.59049	M	2.8	0.31987	T	-6.8	0.92903	D	0.912	0.91621	-0.7025	0.60318	T	0.198	0.55357	T	10	0.7256283	0.73954	D	0.031777	0.53776	D	0.239	0.54358	.	.	0.427389866859	0.42359	0.6521423749795948	0.65150	1.04814267846	0.76033	0.832296133041	0.86914	D	0.402132	0.75924	T	-0.125793	0.32179	T	-0.112492	0.62411	T	0.472296893596649	0.31615	T	0.996523	0.98753	D	0.6208393	0.73808	0.3184562	0.57813	0.6208393	0.73810	0.3184562	0.57812	-11.817	0.83948	D	.	.	0.441	0.79850	A	.;.;.	.;.;.	5.128211	0.85808	28.7	0.99931151901744919	0.99387	0.91632	0.53934	D	AEFDBI	0.426960	0.49110	N	0.66214548134097	0.77157	6.620939	0.595896858946546	0.74644	6.17244	0.999620249835617	0.41093	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	4.77	4.77	0.60425	1.986000	0.40299	3.940000	0.40597	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.939000	0.47918	0.294:0.706:0.0:0.0	11.172	0.47802	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	.	.	.	.	.	.	.	.	0.02632	1287.33	33	chr21	46549874	.	C	T	1287.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.75;DP=768;ExcessHet=0;FS=13.992;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.61;ReadPosRankSum=-1.395;SOR=1.813	GT:AD:DP:GQ:PL	0/1:84,50:134:99:1301,0,1927	18	0	1	0
chr22	16966279	16966279	G	A	exonic	GAB4	.	nonsynonymous SNV	GAB4:NM_001366857:exon4:c.C650T:p.P217L,GAB4:NM_001037814:exon6:c.C1109T:p.P370L	.	422	1098	2	0	0	2	0.000909918	.	.	.	2385146	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.073	0.0019053384922	0.0003	.	0.0001	0	0	0	0	0.0002	0	0	0.0001035	16	154602	rs201893836	0.0001	0.0001	0.0001	0.0001	0.0002	0.0001	0.0001	8.587e-05	8.065e-05	2.987e-05	0.0002	0.0019	0	0	0	0.0001	0.0002	0	0.0003	0.0003	0.0003	0.0004	0.0020	0.0002	0.0002	0.0015	0.0013	9.632e-05	0	0.0020	0.0009	0	0	0	0.0001	0	0	1.0	0.00964	T	0.812	0.03921	T	0.0	0.02946	B	0.0	0.01387	B	0.023140	0.01587	N	2.522350	0.999347	0.21331	N	-0.345	0.03330	N	1.63	0.28002	T	-0.47	0.15178	N	0.047	0.01911	-1.0295	0.20616	T	0.041	0.17827	T	10	0.012963623	0.00276	T	0.001905	0.03351	T	0.073	0.21317	.	.	0.445210270852	0.44144	0.04543469137858604	0.04487	0.0319325867074	0.03313	0.336297273636	0.15884	T	0.00233	0.01729	T	-0.501994	0.00557	T	-0.689556	0.06415	T	0.0109185445468723	0.00157	T	0.218178	0.02774	T	0.01728713	0.00260	0.024206128	0.00436	0.01728713	0.00260	0.024206128	0.00436	-3.486	0.16237	T	.	.	0.081	0.08033	B	.;.	.;.	0.349196	0.07226	3.819	0.21356852520658501	0.00810	0.13825	0.18072	N	AEFDBI	0.025904	0.01853	N	-1.14184949141108	0.05915	0.2709368	-1.08819828359983	0.07931	0.3878502	2.71888694965302E-4	0.06300	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	2.96	1.86	0.24489	1.646000	0.36865	4.043000	0.41441	-1.888000	0.00536	1.000000	0.71638	1.000000	0.68203	0.000000	0.00833	0.8653:0.0:0.1347:0.0	6.529	0.21516	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	.	.	.	.	.	.	.	.	0.02632	1360.33	42	chr22	16966279	.	G	A	1360.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.41;DP=792;ExcessHet=0;FS=2.729;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.32;ReadPosRankSum=0.097;SOR=0.418	GT:AD:DP:GQ:PL	0/1:44,51:95:99:1374,0,1018	18	0	1	0
chr22	17818210	17818210	G	A	exonic	MICAL3	.	nonsynonymous SNV	MICAL3:NM_015241:exon26:c.C4451T:p.S1484L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.247947670929	.	.	.	.	.	.	.	.	.	.	.	.	.	rs949530829	9.299e-06	1.094e-05	9.902e-06	8.682e-06	5.454e-05	5.19e-06	4e-06	9.04e-06	3.38e-06	3.11e-05	0	0	5.454e-05	0	0	8.284e-06	0	1.244e-05	1.973e-05	1.969e-05	1.287e-05	2.69e-05	7.232e-05	5.25e-06	2.46e-06	1.918e-05	1.031e-05	7.232e-05	0	0	0	0	0	0	0	0	0	0.034	0.44029	D	0.287	0.21210	T	0.168	0.28654	B	0.011	0.15521	B	.	.	.	.	0.99889	0.21827	N	1.87	0.49600	L	0.0	0.62608	T	-1.64	0.39314	N	0.101	0.08366	-0.9111	0.46719	T	0.157	0.48976	T	9	0.13100103	0.24932	T	0.247948	0.88989	D	0.086	0.25016	0.17	0.07536	0.0675242888579	0.06100	0.1281073891707835	0.12735	0.122668438614	0.13820	0.454049110413	0.32497	T	0.019223	0.15353	T	-0.213003	0.18958	T	-0.54374	0.17930	T	0.178992420493882	0.19171	T	0.625537	0.24174	T	0.086110435	0.20001	0.13341744	0.31993	0.086110435	0.20001	0.13341744	0.31993	-2.916	0.09304	T	.	.	0.084	0.09868	B	.	.	2.253542	0.28784	17.91	0.99300833553168033	0.58613	0.22541	0.21781	N	AEFDBCI	0.330325	0.43039	N	-0.502870458479332	0.21986	1.170851	-0.495977212862896	0.22264	1.208441	0.994089042021383	0.33480	0.646311	0.45356	0	0.577304	0.33150	0	0.645312	0.48771	0	0.635551	0.53088	0	.	.	4.42	4.42	0.52775	0.877000	0.27756	3.488000	0.38695	0.583000	0.30283	0.036000	0.20778	1.000000	0.68203	0.006000	0.07323	0.0945:0.0:0.9055:0.0	9.974	0.40943	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	.	.	.	.	.	.	.	.	0.05263	5049.81	50	chr22	17818210	.	G	A	5049.81	.	AC=2;AF=0.053;AN=38;DP=957;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=32.16;SOR=2.058	GT:AD:DP:GQ:PL	1/1:0,157:157:99:5077,470,0	18	1	0	0
chr22	18173229	18173229	G	A	exonic	USP18	.	nonsynonymous SNV	USP18:NM_017414:exon9:c.G971A:p.R324Q	.	438	1083	1	0	0	1	0.000461467	.	.	.	3341690	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.052	0.0132312638429	7.7e-05	.	5.961e-05	0	0	0.0002	0	8.419e-05	0	0	3.84e-05	1	26028	rs371265414	5.084e-05	5.062e-05	4.917e-05	5.253e-05	0.0007	4.143e-05	3.794e-05	0.0002	0.0001	3.007e-05	6.799e-05	0	2.527e-05	0	0.0007	4.783e-05	4.99e-05	0.0001	6.584e-05	6.565e-05	9.013e-05	4.042e-05	0.0001	3.523e-05	2.621e-05	2.848e-05	1.859e-05	7.254e-05	0	0.0001	0	0	0	0	7.355e-05	0	0	0.125	0.27310	T	0.334	0.18340	T	0.814	0.45487	P	0.207	0.37187	B	0.010880	0.29752	N	0.346086	0.995559	0.23261	N	.	.	.	3.2	0.07236	T	-1.71	0.40660	N	0.4	0.44090	-1.0070	0.27850	T	0.018	0.07282	T	10	0.26711553	0.44221	T	0.013231	0.32470	T	0.052	0.14661	.	.	0.293147016451	0.28931	0.42771734114485166	0.42688	2.33439091465	0.96697	0.223639816046	0.01530	T	0.171689	0.51990	T	-0.357924	0.04248	T	-0.550872	0.17242	T	0.117445820131631	0.14177	T	0.756924	0.38041	T	0.06248607	0.13055	0.069464184	0.14638	0.06248607	0.13054	0.069464184	0.14637	-4.449	0.30216	T	.	.	0.086	0.10594	B	.	.	2.722156	0.35608	19.94	0.99009958122725417	0.50335	0.56313	0.30085	D	AEFGBI	0.110645	0.21934	N	-0.0604734392647963	0.39136	2.30307	-0.0713177432196944	0.36582	2.130732	0.0291823538505115	0.13873	0.706548	0.73137	0	0.702456	0.74545	0	0.653264	0.51672	0	0.714379	0.83352	0	.	.	4.83	2.72	0.31179	2.561000	0.45567	3.623000	0.39291	0.637000	0.52028	1.000000	0.71638	1.000000	0.68203	0.404000	0.26872	0.2881:0.0:0.7119:0.0	7.051	0.24254	793	0.45818	Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.000522	0.005319	0.001366	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2402.33	161	chr22	18173229	.	G	A	2402.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=5.88;DP=1138;ExcessHet=0;FS=1.33;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=37.61;MQRankSum=0.613;QD=15.6;ReadPosRankSum=1.09;SOR=0.56	GT:AD:DP:GQ:PL	0/1:75,79:154:99:2416,0,2140	18	0	1	0
chr22	18608588	18608588	C	G	exonic	RIMBP3	.	nonsynonymous SNV	RIMBP3:NM_015672:exon1:c.G2847C:p.R949S	.	439	1082	1	0	0	1	0.000461894	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.00223078224965	.	.	0.0005	0	8.691e-05	0.0057	0	0.0001	0	0.0002	3.84e-05	1	26028	rs760651547	0.0002	0.0003	0.0002	0.0002	0.0039	0.0002	0.0002	0.0034	0.0032	2.994e-05	4.473e-05	0	0.0039	0	0.0005	5.937e-05	0.0003	0.0003	0.0002	0.0003	0.0002	0.0003	0.0054	0.0002	0.0002	0.0038	0.0033	0	0	6.531e-05	0	0.0054	0	0	5.879e-05	0	0.0010	.	.	.	0.354	0.17268	T	.	.	.	.	.	.	0.061216	0.22189	N	0.439409	1	0.08975	N	1.375	0.34280	L	.	.	.	.	.	.	0.115	0.10340	-1.0380	0.17924	T	0.030	0.12760	T	10	0.007375717	0.00168	T	0.002231	0.04233	T	.	.	.	.	0.0297737177859	0.01360	0.5106804975959492	0.50990	.	.	0.237180650234	0.02542	T	0.002443	0.01836	T	-0.548687	0.00297	T	-0.5624	0.16151	T	0.00627214984746456	0.00070	T	0.410759	0.10626	T	0.08019359	0.18363	0.047179207	0.06740	0.08019359	0.18363	0.047179207	0.06740	-1.829	0.02597	T	.	.	0.187	0.40376	B	.	.	-0.334834	0.02468	0.285	0.48989597659645023	0.04134	0.03483	0.08646	N	AEFBI	0.094300	0.19068	N	-0.935969289969095	0.10009	0.4763505	-1.00116802023177	0.09759	0.4874432	1.32880460892466E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	3.56	1.12	0.19700	-0.609000	0.05731	-3.833000	0.02507	-0.866000	0.02592	0.000000	0.06391	0.000000	0.08366	0.162000	0.20715	0.2227:0.5606:0.2167:0.0	5.785	0.17595	866	0.32446	.	.	.	.	.	.	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	0.000559	0.000000	0.000000	0.000000	0.000000	0.000000	0.003311	0.000000	0.02632	859.33	44	chr22	18608588	.	C	G	859.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.056;DP=1037;ExcessHet=0;FS=1.832;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=39.2;MQRankSum=-4.339;QD=3.27;ReadPosRankSum=-1.004;SOR=0.855	GT:AD:DP:GQ:PL	0/1:204,59:263:99:873,0,5333	18	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	0.7632	70360.4	209	chr22	18925165	.	A	G	70360.4	.	AC=29;AF=0.763;AN=38;BaseQRankSum=-1.068;DP=3050;ExcessHet=0.1204;FS=0;InbreedingCoeff=0.272;MLEAC=29;MLEAF=0.763;MQ=60;MQRankSum=0;QD=24.25;ReadPosRankSum=0.274;SOR=0.651	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,168:168:99:.:.:4889,504,0:.	2	12	5	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4211	10811.0	92	chr22	23311788	.	T	TCCGG	10811.0	.	AC=16;AF=0.421;AN=38;BaseQRankSum=0.736;DP=1944;ExcessHet=25.4433;FS=20.732;InbreedingCoeff=-0.7273;MLEAC=16;MLEAF=0.421;MQ=55.07;MQRankSum=-7.837;QD=6.32;ReadPosRankSum=-0.502;SOR=2.084	GT:AD:DP:GQ:PL	0/1:88,11:99:99:197,0,3622	3	0	16	0
chr22	24898557	24898557	T	G	exonic	SGSM1	.	nonsynonymous SNV	SGSM1:NM_001098498:exon18:c.T2425G:p.S809A,SGSM1:NM_001098497:exon19:c.T2608G:p.S870A,SGSM1:NM_133454:exon19:c.T2590G:p.S864A,SGSM1:NM_001039948:exon20:c.T2773G:p.S925A	.	.	.	.	.	.	.	.	0.6288	0.642	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	0.0187076506429	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.918e-07	6.84e-07	0	1.394e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.077	0.44702	T	0.979	0.59044	D	0.961	0.70482	D	0.000391	0.44960	U	0.151922	0.999937	0.51612	D	2.235	0.63160	M	3.67	0.04188	T	-2.07	0.47514	N	0.52	0.55106	-1.1782	0.00397	T	0.051	0.21572	T	10	0.34105203	0.51163	T	0.018708	0.40862	T	0.125	0.34456	0.543	0.65589	0.204265027416	0.20035	0.5192972955092959	0.51852	0.410434884636	0.41825	0.661852359772	0.61674	T	0.041062	0.25735	T	-0.102149	0.36070	T	-0.384506	0.35194	T	0.95308119058609	0.63944	D	0.775922	0.40781	T	0.1873467	0.40185	0.1910492	0.42541	0.1873467	0.40185	0.1910492	0.42541	-7.519	0.60414	D	.	.	0.155	0.34250	B	.;.;.	.;.;.	4.095806	0.61034	24.3	0.9925818677465974	0.57121	0.98713	0.85906	D	AEFDGBI	0.735169	0.68107	D	0.470291998446728	0.65363	4.813085	0.493215621457186	0.67540	5.097623	0.999563828878704	0.40425	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.09	5.09	0.68647	5.132000	0.64599	6.000000	0.52472	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:0.0:0.0:1.0	14.363	0.66352	676	0.60355	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	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	898.33	34	chr22	24898557	.	T	G	898.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.999;DP=735;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.21;ReadPosRankSum=-1.18;SOR=0.709	GT:AD:DP:GQ:PL	0/1:50,38:88:99:912,0,1236	18	0	1	0
chr22	26607993	26607993	G	A	exonic	CRYBB1	.	nonsynonymous SNV	CRYBB1:NM_001887:exon4:c.C328T:p.R110C	Cataract 17, multiple types	0	1477	43	2	0	47	0.0156614	.	.	.	471814	not_provided|not_specified|Cataract_17_multiple_types	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0012688,MedGen:C3888124,OMIM:611544,Orphanet:91492	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.314	.	0.0032	0.00279553	0.0040	0.0005	0.0011	0	0.0002	0.0036	0.0055	0.0130	0.0037774	584	154602	rs147206089	0.0038	0.0038	0.0034	0.0042	0.0130	0.0037	0.0037	0.0119	0.0117	0.0005	0.0013	0.0074	2.519e-05	0.0003	0.0130	0.0035	0.0038	0.0125	0.0025	0.0025	0.0025	0.0024	0.0081	0.0023	0.0022	0.0061	0.0054	0.0005	0	0.0014	0.0084	0	0.0002	0.0034	0.0038	0.0024	0.0081	0.296	0.14694	T	0.334	0.18340	T	0.11	0.26188	B	0.036	0.22909	B	0.018280	0.27521	N	0.409242	1	0.81001	D	1.2	0.30300	L	-1.2	0.78537	T	-2.74	0.58248	D	0.56	0.58458	-0.7390	0.58504	T	0.294	0.66536	T	10	0.01889366	0.00416	T	.	.	.	0.314	0.63588	.	.	0.857164336281	0.85578	0.709777968785086	0.70919	0.44494330437	0.44396	0.426186293364	0.28687	T	0.303705	0.67604	T	-0.314402	0.07366	T	-0.213362	0.53372	T	0.00948379120019987	0.00122	T	0.89791	0.64303	D	0.23340948	0.46144	0.14586306	0.34577	0.27970907	0.51020	0.1532315	0.36015	-7.048	0.54383	T	0.14177902914573434	0.15978	0.150	0.33249	B	.;.	.;.	3.762870	0.53999	23.4	0.94776455865826359	0.25501	0.90965	0.52598	D	AEFDGBI	0.398102	0.47391	N	-0.238859755634585	0.31551	1.770245	-0.138961483284626	0.33837	1.939746	0.999981519265805	0.51787	0.653281	0.48532	0	0.588066	0.40923	0	0.675528	0.61593	0	0.530356	0.10902	0	.	.	4.64	2.55	0.29757	3.076000	0.49779	4.347000	0.43075	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.850000	0.40195	0.1587:0.0:0.8413:0.0	9.879	0.40392	960	0.08626	Beta/gamma crystallin|Beta/gamma crystallin|Beta/gamma crystallin|Beta/gamma crystallin;Beta/gamma crystallin|Beta/gamma crystallin|Beta/gamma crystallin|Beta/gamma crystallin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.011581	0.000000	0.006793	0.008772	0.000000	0.008621	0.033537	0.018939	0.02632	2048.33	37	chr22	26607993	.	G	A	2048.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.723;DP=835;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.38;ReadPosRankSum=0.532;SOR=0.71	GT:AD:DP:GQ:PL	0/1:95,85:180:99:2062,0,2342	18	0	1	0
chr22	29481019	29481019	G	A	exonic	NEFH	.	nonsynonymous SNV	NEFH:NM_021076:exon1:c.G757A:p.A253T	Charcot-Marie-Tooth disease, axonal, type 2CC, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.220	0.156053747268	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.44029	D	0.324	0.18903	T	.	.	.	.	.	.	0.357788	0.13716	N	0.546570	0.999992	0.08975	N	.	.	.	-2.38	0.88298	D	-1.49	0.36385	N	0.111	0.09772	-0.7536	0.57747	T	0.317	0.68620	T	10	0.12358609	0.23461	T	0.156054	0.83688	D	0.220	0.51569	0.367	0.37524	0.732615154808	0.73023	0.07759383011385368	0.07695	1.05653110796	0.76323	0.673871815205	0.63390	T	.	.	.	-0.102791	0.35962	T	-0.385428	0.35088	T	0.147618624702267	0.16913	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.07602	B	.	.	3.090299	0.41606	21.4	0.98247790700102611	0.39539	0.95559	0.65204	D	ALL	0.155625	0.28085	N	-0.698280443702802	0.16070	0.8155535	-0.57038617916065	0.20266	1.091126	0.999999999998722	0.74766	0.623204	0.39778	0	0.567169	0.20442	1	0.378051	0.06126	2	0.603991	0.37454	0	.	.	3.89	1.4	0.21393	0.780000	0.26421	7.131000	0.57624	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.695000	0.33988	0.1302:0.3199:0.5499:0.0	5.254	0.14853	678	0.60190	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1145.33	35	chr22	29481019	.	G	A	1145.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.322;DP=711;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.07;ReadPosRankSum=-0.968;SOR=0.763	GT:AD:DP:GQ:PL	0/1:31,45:76:99:1159,0,678	18	0	1	0
chr22	31278338	31278338	C	G	exonic	LIMK2	.	nonsynonymous SNV	LIMK2:NM_016733:exon15:c.C1751G:p.S584C,LIMK2:NM_005569:exon16:c.C1814G:p.S605C	.	430	1023	68	1	0	70	0.0330813	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.293	.	0.0017	0.00878594	0.0065	0.0003	0.0019	0	0	0.0024	0.0143	0.0362	0.005692	880	154602	rs149034313	0.0038	0.0038	0.0026	0.0050	0.0398	0.0037	0.0037	0.0387	0.0382	0.0003	0.0021	0.0071	7.559e-05	0.0001	0.0186	0.0013	0.0050	0.0398	0.0027	0.0027	0.0020	0.0035	0.0402	0.0025	0.0024	0.0356	0.0338	0.0003	0.0164	0.0015	0.0058	0.0004	0.0003	0.0068	0.0021	0.0009	0.0402	0.197	0.20607	T	0.187	0.28958	T	0.022	0.18677	B	0.013	0.16460	B	.	.	.	.	0.999985	0.54805	D	1.43	0.35840	L	-0.77	0.74159	T	-1.68	0.40082	N	0.238	0.26837	-0.7407	0.58417	T	0.214	0.57534	T	9	0.00640589	0.00145	T	.	.	.	0.293	0.61272	.	.	0.767527963459	0.76540	.	.	.	.	0.733979284763	0.72088	T	0.189817	0.54416	T	-0.169951	0.25242	T	0.0116689	0.71090	D	0.00956897639317594	0.00124	T	0.842116	0.51841	T	0.36026892	0.57856	0.23908885	0.49249	0.36026892	0.57856	0.23908885	0.49248	-3.107	0.12141	T	.	.	0.080	0.13268	B	.;.	.;.	3.878222	0.56346	23.7	0.93430628976839147	0.23203	0.95887	0.66581	D	AEFDBCI	0.627937	0.61021	D	-0.0227562125604786	0.40826	2.431309	0.166144907164052	0.48005	3.022314	0.999999999994077	0.74766	0.67177	0.52595	0	0.577304	0.33150	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.37	5.37	0.76949	4.563000	0.60539	6.100000	0.53542	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0:1.0:0.0:0.0	18.091	0.89404	401	0.82673	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	0.020141	0.010101	0.009511	0.008772	0.000000	0.034483	0.039634	0.041667	0.02632	906.33	34	chr22	31278338	.	C	G	906.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.83;DP=701;ExcessHet=0;FS=0.872;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.59;ReadPosRankSum=1.7;SOR=0.588	GT:AD:DP:GQ:PL	0/1:34,38:72:99:920,0,773	18	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	.	.	.	.	.	.	.	.	0.07895	1043.79	39	chr22	36227655	.	C	A	1043.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-5.684;DP=1698;ExcessHet=0.3672;FS=130.109;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=1.1;ReadPosRankSum=1.58;SOR=10.43	GT:AD:DP:GQ:PL	0/1:260,63:323:99:527,0,6943	16	0	3	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	.	.	.	.	.	.	.	.	0.1389	3097.37	197	chr22	36265782	.	G	T	3097.37	.	AC=5;AF=0.139;AN=36;BaseQRankSum=-4.003;DP=2840;ExcessHet=1.3;FS=138.063;InbreedingCoeff=-0.171;MLEAC=5;MLEAF=0.139;MQ=60;MQRankSum=0;QD=3.43;ReadPosRankSum=1.24;SOR=11.326	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:130,44:174:99:0|1:36265782_G_T:845,0,4449:36265782	13	0	5	1
chr22	36265787	36265787	G	T	exonic	APOL1	.	nonsynonymous SNV	APOL1:NM_001136541:exon5:c.G897T:p.Q299H,APOL1:NM_001362927:exon5:c.G897T:p.Q299H,APOL1:NM_001136540:exon6:c.G951T:p.Q317H,APOL1:NM_003661:exon6:c.G951T:p.Q317H,APOL1:NM_145343:exon7:c.G999T:p.Q333H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.00174566368718	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	0.33753	T	0.05	0.50514	T	0.832	0.46138	P	0.6	0.50752	P	0.486182	0.05010	N	1.272740	1	0.08975	N	1.98	0.53716	M	3.59	0.04544	T	-3.32	0.66085	D	0.056	0.07262	-0.9872	0.33298	T	0.028	0.11926	T	10	0.41554847	0.56516	T	0.001746	0.02934	T	0.076	0.22200	0.787	0.90993	0.536147182381	0.53264	0.1934163824026781	0.19259	0.198314738213	0.22208	0.238215714693	0.02632	T	0.036324	0.24062	T	-0.28305	0.10346	T	-0.644358	0.09354	T	0.571350753307343	0.35286	D	0.882812	0.60417	D	0.09095966	0.21301	0.08753992	0.20354	0.09095966	0.21301	0.08753992	0.20354	-4.203	0.26795	T	.	.	0.158	0.37293	B	.;.;.;.;.	.;.;.;.;.	1.086071	0.14694	11.25	0.98800888467532288	0.46445	0.06423	0.12427	N	AEFDBI	0.210716	0.33657	N	-0.470422674084812	0.23054	1.235307	-0.693552490859705	0.17120	0.908959	0.445296783057563	0.20490	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.567339	0.31927	0	.	.	3.18	0.676	0.17125	0.445000	0.21392	-1.627000	0.05032	-0.298000	0.06216	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.0:0.0:0.5404:0.4596	7.454	0.26427	489	0.76795	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	1343.83	191	chr22	36265787	.	G	T	1343.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-2.609;DP=2757;ExcessHet=0.119;FS=303.861;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=3.66;ReadPosRankSum=1.28;SOR=8.885	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:128,45:173:99:0|1:36265782_G_T:858,0,4404:36265782	17	0	2	0
chr22	36316560	36316560	G	C	exonic	MYH9	.	nonsynonymous SNV	MYH9:NM_002473:exon12:c.C1337G:p.S446C	Deafness, autosomal dominant 17, Autosomal dominant;Epstein syndrome, Autosomal dominant;Fechtner syndrome, Autosomal dominant;Macrothrombocytopenia and progressive sensorineural deafness, Autosomal dominant;May-Hegglin anomaly, Autosomal dominant;Sebastian syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.692	0.324217944934	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.844e-07	8.688e-05	1.362e-06	0	8.999e-07	0	0	.	.	0	0	0	0	0	0	8.999e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.113	0.36901	T	0.839	0.46454	P	0.211	0.37346	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.15	0.60148	M	-2.36	0.88143	D	-4.71	0.79915	D	0.878	0.87590	0.426	0.89483	D	0.660	0.88197	D	10	0.9259001	0.91938	D	0.324218	0.91564	D	0.692	0.88820	0.645	0.78224	0.961098647398	0.96068	0.8395035233604805	0.83910	2.00279492732	0.93841	0.889070630074	0.95144	D	0.822647	0.95680	D	0.384396	0.88989	D	0.314382	0.88851	D	0.996383428573608	0.89236	D	0.944506	0.78979	D	0.92190284	0.93432	0.7688183	0.86348	0.92190284	0.93433	0.7688183	0.86349	-11.156	0.80506	D	0.8877937243935591	0.94347	0.351	0.56631	A	.	.	4.590653	0.72606	25.9	0.99319532239500308	0.59317	0.97062	0.72468	D	AEFBHCI	0.962230	0.98376	D	0.558250758971841	0.70586	5.523309	0.579599439697102	0.73481	5.977167	0.999999999999999	0.74766	0.722319	0.85440	0	0.702456	0.74545	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.1	5.1	0.68917	10.003000	0.99689	7.593000	0.61311	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.877000	0.41881	0.0:0.0:1.0:0.0	18.547	0.91003	492	0.76569	Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07895	539.79	37	chr22	36316560	.	G	C	539.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-3.145;DP=1446;ExcessHet=0.3672;FS=307.401;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=2.13;ReadPosRankSum=1.02;SOR=7.784	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:61,12:73:99:0|1:36316559_G_C:210,0,2520:36316559	16	0	3	0
chr22	37823563	37823563	C	G	exonic	GALR3	.	nonsynonymous SNV	GALR3:NM_003614:exon1:c.C157G:p.P53A	.	409	1095	16	0	2	18	0.00725295	.	.	.	2822189	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.079	0.00372938010165	0.0044	0.000998403	0.0037	0.0016	0.0025	0	0	0.0047	0.0034	0.0053	0.0033699	521	154602	rs78650836	0.0054	0.0054	0.0054	0.0055	0.0061	0.0053	0.0053	0.0060	0.0059	0.0011	0.0020	0.0109	0	0.0003	0.0061	0.0061	0.0052	0.0047	0.0037	0.0037	0.0040	0.0032	0.0057	0.0034	0.0033	0.0052	0.0050	0.0016	0	0.0021	0.0104	0	0.0002	0.0136	0.0057	0.0028	0.0050	0.344	0.12552	T	0.762	0.04603	T	0.12	0.26678	B	0.023	0.19966	B	0.001413	0.39109	N	0.253805	0.985627	0.24693	N	0.91	0.23283	L	1.23	0.36872	T	-1.24	0.31375	N	0.264	0.29889	-1.0526	0.13682	T	0.031	0.13418	T	10	0.005166143	0.00112	T	0.003729	0.08651	T	0.079	0.23065	.	.	0.561065777782	0.55768	0.12042932136369706	0.11969	0.0635665618396	0.07079	0.426131874323	0.28679	T	0.034868	0.23493	T	-0.476906	0.00771	T	-0.45659	0.26971	T	0.00276266210519693	0.00029	T	0.459554	0.13284	T	0.050487977	0.09128	0.042460885	0.05062	0.050487977	0.09127	0.042460885	0.05062	-5.106	0.37971	T	.	.	0.069	0.03231	B	.	.	1.385777	0.17977	13.48	0.88235374183900261	0.17819	0.83030	0.42184	D	AEFDBI	0.195672	0.32270	N	-0.178552182088162	0.34029	1.937445	0.0200353589479204	0.40646	2.429099	0.999956360252973	0.48110	0.65757	0.49021	0	0.59043	0.45803	0	0.619478	0.44681	0	0.562822	0.20929	0	.	.	5.25	4.24	0.49486	1.413000	0.34333	2.949000	0.35703	0.599000	0.40250	0.936000	0.32490	1.000000	0.68203	0.094000	0.17991	0.2991:0.6141:0.0:0.0869	6.697	0.22394	905	0.23532	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	0.005539	0.000000	0.005450	0.000000	0.000000	0.000000	0.012195	0.015152	0.05263	3159.81	114	chr22	37823563	.	C	G	3159.81	.	AC=2;AF=0.053;AN=38;DP=838;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=30.98;SOR=1	GT:AD:DP:GQ:PL	1/1:0,102:102:99:3187,306,0	18	1	0	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	0.05263	4897.81	37	chr22	40777114	.	T	C	4897.81	.	AC=2;AF=0.053;AN=38;DP=804;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=30.05;SOR=0.808	GT:AD:DP:GQ:PL	1/1:0,163:163:99:4925,489,0	18	1	0	0
chr22	45541318	45541318	G	A	exonic	FBLN1	.	nonsynonymous SNV	FBLN1:NM_001996:exon9:c.G1012A:p.V338M,FBLN1:NM_006485:exon9:c.G1012A:p.V338M,FBLN1:NM_006486:exon9:c.G1012A:p.V338M,FBLN1:NM_006487:exon9:c.G1012A:p.V338M	Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses, Autosomal dominant	0	1518	4	0	0	4	0.00131579	.	.	.	271226	not_specified|FBLN1-related_disorder|not_provided	MedGen:CN169374|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.288	0.0787383600032	.	.	0.0002	0	8.643e-05	0	0	0.0001	0.0022	0.0011	0.0001876	29	154602	rs766511464	0.0002	0.0002	0.0001	0.0002	0.0014	0.0001	0.0001	0.0012	0.0012	0	4.472e-05	3.826e-05	0	0	0.0009	6.924e-05	0.0002	0.0014	7.882e-05	7.88e-05	7.706e-05	8.066e-05	0.0006	4.495e-05	3.511e-05	0.0002	8.981e-05	0	0	0	0	0	0	0	0.0001	0	0.0006	0.071	0.35165	T	0.159	0.31527	T	1.0	0.90584	D	0.982	0.81110	D	0.027314	0.25777	N	0.439260	0.985965	0.24661	N	1.245	0.31408	L	-2.25	0.88997	D	-0.32	0.12283	N	0.295	0.33360	-0.1394	0.79179	T	0.653	0.87916	D	10	0.06157714	0.07741	T	0.078738	0.73075	D	0.288	0.60691	.	.	0.712324783068	0.70981	0.49170315830137373	0.49091	1.16983669901	0.79729	0.611775100231	0.54567	T	0.480118	0.80924	T	-0.266541	0.12145	T	-0.196177	0.55008	T	0.0752784387368085	0.09373	T	0.858114	0.55771	D	0.035944536	0.04328	0.04856181	0.07240	0.035944536	0.04328	0.04856181	0.07240	-6.686	0.51705	T	.	.	0.133	0.29642	B	.;.;.;.;.	.;.;.;.;.	4.391863	0.67780	25.1	0.99855797152208603	0.93458	0.84246	0.43329	D	AEFDBI	0.358368	0.44907	N	0.458753326549253	0.64700	4.730679	0.498564181852397	0.67894	5.145639	0.999702713192535	0.41986	0.706548	0.73137	0	0.563428	0.19063	0	0.724815	0.87919	0	0.567892	0.33627	0	.	.	5.41	5.41	0.78313	2.321000	0.43465	7.395000	0.58538	0.676000	0.76740	0.995000	0.38783	1.000000	0.68203	0.997000	0.79791	0.0:0.1414:0.7125:0.1461	10.666	0.44927	906	0.23090	EGF-like calcium-binding domain|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;.;EGF-like calcium-binding domain|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1725.33	45	chr22	45541318	.	G	A	1725.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.576;DP=856;ExcessHet=0;FS=1.307;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.5;ReadPosRankSum=0.95;SOR=0.561	GT:AD:DP:GQ:PL	0/1:77,73:150:99:1739,0,1790	18	0	1	0
chr22	49626891	49626891	A	G	exonic	C22orf34	.	nonsynonymous SNV	C22orf34:NM_001289922:exon2:c.T4C:p.C2R	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.000177347955543	.	0.00119808	6.836e-05	0.0012	0	0	0	0	0	0	0.0001164	18	154602	rs113891019	0.0002	0.0002	0.0003	0.0002	0.0062	0.0002	0.0002	0.0054	0.0051	0.0062	0.0004	0	0	0	0.0016	7.71e-05	0.0007	2.625e-05	0.0014	0.0014	0.0014	0.0015	0.0047	0.0013	0.0012	0.0042	0.0040	0.0047	0	0.0005	0	0	0	0.0068	0.0001	0.0009	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	.	.	.	.	.	.	.	.	0.02632	3920.33	34	chr22	49626891	.	A	G	3920.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.57;DP=1016;ExcessHet=0;FS=0.789;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.8;ReadPosRankSum=-0.942;SOR=0.643	GT:AD:DP:GQ:PL	0/1:191,172:363:99:3934,0,4412	18	0	1	0
chr22	49997398	49997398	C	T	exonic	IL17REL	.	nonsynonymous SNV	IL17REL:NM_001001694:exon13:c.G896A:p.C299Y,IL17REL:NM_001371416:exon13:c.G1112A:p.C371Y	.	416	1078	27	1	0	29	0.0132723	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	.	0.0038	0.00978435	0.0102	0.0011	0.0203	0.0095	0.0156	0.0069	0.0097	0.0207	0.0088356	1366	154602	rs149914294	0.0072	0.0072	0.0068	0.0076	0.0203	0.0071	0.0070	0.0195	0.0192	0.0009	0.0171	0.0023	0.0115	0.0136	0.0104	0.0056	0.0062	0.0203	0.0066	0.0066	0.0062	0.0070	0.0252	0.0063	0.0061	0.0216	0.0202	0.0008	0	0.0085	0.0037	0.0099	0.0126	0.0170	0.0074	0.0057	0.0252	0.014	0.53172	D	0.057	0.46406	T	0.761	0.43566	P	0.463	0.46548	P	0.200040	0.16624	U	0.423844	0.995598	0.23251	N	1.995	0.54099	M	1.91	0.23283	T	-3.74	0.71042	D	0.384	0.42541	-1.0826	0.06852	T	0.029	0.12278	T	10	0.004169047	0.00082	T	.	.	.	0.041	0.10877	.	.	.	.	0.7003880099128312	0.69979	0.566038059239	0.52916	0.587475061417	0.51138	T	0.072536	0.34477	T	-0.515064	0.00470	T	-0.497035	0.22657	T	0.043016398541308	0.04240	T	0.473453	0.14099	T	0.16738981	0.37132	0.2157739	0.46179	0.16738981	0.37132	0.2157739	0.46178	-4.617	0.32385	T	.	.	0.353	0.57016	A	.;.	.;.	1.593040	0.20375	14.72	0.5374895596968956	0.05000	0.37034	0.25669	N	AEFDBI	0.100557	0.20218	N	-0.404946728151991	0.25295	1.372082	-0.510310680304286	0.21873	1.185335	0.1196562036741	0.16849	0.517182	0.21443	0	0.547309	0.14657	0	0.478664	0.07449	1	0.567892	0.33627	0	.	.	2.39	1.34	0.21018	-0.038000	0.12096	1.234000	0.25062	-0.204000	0.08590	0.000000	0.06391	0.874000	0.27626	0.458000	0.28074	0.0:0.8196:0.0:0.1804	5.122	0.14198	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	0.006054	0.000000	0.001359	0.000000	0.000000	0.000000	0.009146	0.022727	0.02632	1090.33	35	chr22	49997398	.	C	T	1090.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.084;DP=757;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.01;ReadPosRankSum=0.326;SOR=0.743	GT:AD:DP:GQ:PL	0/1:52,47:99:99:1104,0,1386	18	0	1	0
chr22	49998059	49998059	G	A	exonic	IL17REL	.	nonsynonymous SNV	IL17REL:NM_001001694:exon11:c.C785T:p.P262L,IL17REL:NM_001371416:exon11:c.C1001T:p.P334L,IL17REL:NM_001371417:exon11:c.C1001T:p.P334L	.	353	1140	27	2	0	31	0.0134141	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	.	0.0046	0.00978435	0.0109	0.0014	0.0200	0.0102	0.0142	0.0078	0.0096	0.0213	0.009353	1446	154602	rs142430606	0.0075	0.0076	0.0070	0.0081	0.0202	0.0074	0.0074	0.0194	0.0191	0.0010	0.0159	0.0026	0.0117	0.0139	0.0098	0.0062	0.0064	0.0202	0.0072	0.0072	0.0068	0.0076	0.0253	0.0068	0.0067	0.0216	0.0203	0.0009	0	0.0086	0.0046	0.0102	0.0128	0.0170	0.0086	0.0061	0.0253	0.294	0.14793	T	0.484	0.11760	T	0.196	0.29532	B	0.016	0.17743	B	0.877826	0.07216	N	1.071190	1	0.08975	N	1.4	0.35362	L	2.55	0.13795	T	-2.96	0.61722	D	0.162	0.17002	-0.9609	0.39012	T	0.011	0.03996	T	10	0.0031473637	0.00053	T	.	.	.	0.051	0.14325	.	.	.	.	0.28385682497838705	0.28298	0.23272974605	0.25809	0.401216804981	0.25237	T	0.020021	0.15839	T	-0.623332	0.00105	T	-0.652555	0.08776	T	0.0182060946116514	0.00541	T	0.50185	0.15733	T	0.055870853	0.10916	0.09897229	0.23614	0.055870853	0.10915	0.09897229	0.23613	-8.295	0.63062	D	.	.	0.097	0.15609	B	.;.	.;.	1.469939	0.18935	14.00	0.61975538515918471	0.06845	0.01983	0.05993	N	AEFDBI	0.035760	0.04655	N	-0.962792134157025	0.09407	0.4450946	-0.958087245727032	0.10736	0.5426275	0.140524573342122	0.17264	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	3.57	-1.9	0.07248	-0.496000	0.06517	0.036000	0.13800	-0.132000	0.13132	0.000000	0.06391	0.004000	0.18990	0.579000	0.30870	0.5351:0.0:0.4649:0.0	7.460	0.26457	946	0.12043	Interleukin-17 receptor C/E, N-terminal;Interleukin-17 receptor C/E, 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	0.007553	0.005051	0.004076	0.000000	0.000000	0.000000	0.009146	0.022727	0.02632	810.33	36	chr22	49998059	.	G	A	810.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.532;DP=710;ExcessHet=0;FS=2.356;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.47;ReadPosRankSum=0.19;SOR=0.371	GT:AD:DP:GQ:PL	0/1:24,32:56:99:824,0,554	18	0	1	0
chr22	49999850	49999850	T	C	exonic	IL17REL	.	nonsynonymous SNV	IL17REL:NM_001001694:exon7:c.A452G:p.E151G,IL17REL:NM_001371416:exon7:c.A668G:p.E223G,IL17REL:NM_001371417:exon7:c.A668G:p.E223G	.	405	1089	27	1	0	29	0.01314	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	.	0.0028	0.00938498	0.0170	0.0010	0.0291	0.0073	0.2143	0.0106	0.0217	0.0223	0.0001537	4	26028	rs200958270	0.0068	0.0067	0.0064	0.0073	0.0204	0.0067	0.0067	0.0196	0.0193	0.0009	0.0157	0.0023	0.0110	0.0117	0.0093	0.0056	0.0060	0.0204	0.0065	0.0065	0.0061	0.0069	0.0251	0.0062	0.0060	0.0214	0.0201	0.0010	0	0.0085	0.0037	0.0101	0.0108	0.0170	0.0074	0.0052	0.0251	0.006	0.61437	D	0.079	0.42086	T	0.718	0.42284	P	0.295	0.40843	B	0.200749	0.16606	U	0.547580	1	0.08975	N	2.175	0.60977	M	2.34	0.16351	T	-4.59	0.78891	D	0.32	0.36043	-1.0575	0.12388	T	0.021	0.09056	T	10	0.0023868978	0.00035	T	.	.	.	0.037	0.09474	.	.	.	.	0.4867419778835534	0.48594	0.37277209944	0.38762	0.689770460129	0.65673	T	0.052898	0.29291	T	-0.542197	0.00325	T	-0.536009	0.18690	T	0.0281239854340343	0.01706	T	0.417258	0.10990	T	0.2990288	0.52817	0.26127082	0.51902	0.2990288	0.52817	0.26127082	0.51901	-7.701	0.59015	D	.	.	0.241	0.47557	B	.;.	.;.	2.852537	0.37665	20.6	0.99089437932231228	0.52173	0.12369	0.17226	N	AEFDBHCI	0.061432	0.11743	N	-0.498912231032657	0.22116	1.178677	-0.686593851938898	0.17295	0.919027	0.990245747383054	0.32087	0.623204	0.39778	0	0.578056	0.33634	0	0.378051	0.06126	2	0.554799	0.18163	0	.	.	3.63	1.33	0.20958	0.448000	0.21443	0.412000	0.18122	0.568000	0.28809	0.001000	0.13787	0.002000	0.18203	0.085000	0.17524	0.206:0.0:0.2137:0.5803	4.135	0.09634	946	0.12043	Interleukin-17 receptor C/E, N-terminal;Interleukin-17 receptor C/E, 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	0.004940	0.000000	0.001453	0.000000	0.000000	0.000000	0.010345	0.020000	0.02632	534.33	35	chr22	49999850	.	T	C	534.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.605;DP=635;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.44;ReadPosRankSum=0.675;SOR=0.836	GT:AD:DP:GQ:PL	0/1:16,21:37:99:548,0,391	18	0	1	0
chr22	50217293	50217293	C	T	exonic	SELENOO	.	unknown	UNKNOWN	.	404	1111	7	0	0	7	0.00314042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	.	0.0018	0.000998403	0.0026	0.0003	0.0006	0	0.0030	0.0036	0.0012	0.0027	0.0024773	383	154602	rs144505070	0.0031	0.0031	0.0032	0.0030	0.0036	0.0030	0.0030	0.0035	0.0035	0.0003	0.0012	3.831e-05	5.039e-05	0.0019	0.0012	0.0036	0.0020	0.0022	0.0020	0.0020	0.0020	0.0019	0.0032	0.0018	0.0017	0.0029	0.0027	0.0006	0	0.0014	0	0	0.0020	0	0.0032	0.0024	0.0017	0.254	0.16903	T	0.274	0.22084	T	0.014	0.16867	B	0.002	0.06944	B	0.729696	0.06362	N	1.136030	1	0.08975	N	.	.	.	2.19	0.18724	T	-0.78	0.21644	N	0.175	0.22614	-0.9759	0.35926	T	0.037	0.15813	T	10	0.0039499104	0.00076	T	.	.	.	0.061	0.17616	.	.	0.215109475489	0.21095	.	.	0.0955740792059	0.10794	0.38545113802	0.23026	T	0.013854	0.11904	T	-0.552807	0.00280	T	-0.56603	0.15814	T	0.0152063647921579	0.00333	T	0.513449	0.16474	T	0.05886144	0.11892	0.05593126	0.09903	0.05886144	0.11892	0.05593126	0.09903	.	.	.	.	.	0.085	0.10159	B	.;.	.;.	0.958079	0.13348	9.848	0.95483580423195369	0.27049	0.27395	0.23265	N	AEFDBHCI	0.266688	0.38356	N	-0.909620167007978	0.10616	0.5081651	-0.986055839828371	0.10098	0.5064601	0.998481448164025	0.37052	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.57	-0.755	0.10503	2.110000	0.41497	-1.121000	0.06268	0.524000	0.24156	1.000000	0.71638	0.000000	0.08366	0.001000	0.02609	0.1216:0.5234:0.3551:0.0	11.437	0.49316	684	0.59539	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002518	0.005051	0.001359	0.000000	0.000000	0.000000	0.009146	0.000000	0.02632	1819.33	41	chr22	50217293	.	C	T	1819.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.125;DP=854;ExcessHet=0;FS=1.34;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13;ReadPosRankSum=-1.389;SOR=0.562	GT:AD:DP:GQ:PL	0/1:64,76:140:99:1833,0,1530	18	0	1	0
chr22	50721549	50721549	C	T	exonic	SHANK3	.	nonsynonymous SNV	SHANK3:NM_001372044:exon23:c.C3899T:p.P1300L	Phelan-McDermid syndrome, Isolated cases	6	1515	1	0	0	1	0.000329924	.	.	.	1178649	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.070	0.0139245095983	.	.	0.0002	0	0	0	0	0.0002	0	0.0003	1.94e-05	3	154602	rs753314270	5.209e-05	5.267e-05	5.776e-05	4.626e-05	0.0002	4.233e-05	3.894e-05	7.153e-05	4.904e-05	0	0.0002	0	0	0	0	5.085e-05	5.167e-05	0.0001	5.256e-05	5.253e-05	3.854e-05	6.724e-05	0.0001	2.557e-05	1.83e-05	6.281e-05	4.298e-05	0.0001	0	6.54e-05	0	0	0	0	1.47e-05	0	0	.	.	.	0.019	0.59159	D	.	.	.	.	.	.	0.682333	0.10248	N	0.841867	0.999804	0.20292	N	.	.	.	.	.	.	.	.	.	0.382	0.52297	-0.9604	0.39106	T	0.128	0.43605	T	10	0.13220784	0.25163	T	0.013925	0.33681	T	0.070	0.20419	.	.	.	.	0.17380315182072492	0.17300	.	.	0.569733858109	0.48640	T	0.081489	0.36608	T	.	.	.	.	.	.	.	.	.	0.822818	0.48291	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.09965	B	.;.	.;.	2.864811	0.37866	20.6	0.98065793749463204	0.37983	0.37742	0.25830	N	AEFDBI	0.143063	0.26567	N	-0.224876710530093	0.32115	1.807776	-0.275335095077902	0.28914	1.615802	0.990459535409249	0.32159	0.67177	0.52595	0	0.588066	0.40923	0	0.61531	0.40942	0	0.711	0.71501	0	.	.	4.7	3.58	0.40133	1.340000	0.33501	2.647000	0.33790	0.599000	0.40250	0.732000	0.28943	0.982000	0.30508	0.997000	0.79791	0.1721:0.8279:0.0:0.0	13.084	0.58543	616	0.66398	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	268.33	24	chr22	50721549	.	C	T	268.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.399;DP=672;ExcessHet=0;FS=3.556;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.58;ReadPosRankSum=0.675;SOR=0.223	GT:AD:DP:GQ:PL	0/1:16,12:28:99:282,0,418	18	0	1	0
chrX	8795269	8795286	CTGCTGCTGCTGCGGCTT	-	exonic	FAM9A	.	nonframeshift deletion	FAM9A:NM_001171186:exon7:c.623_640del:p.E208_A213del,FAM9A:NM_174951:exon7:c.623_640del:p.E208_A213del	.	450	1068	2	0	2	4	0.000935454	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0013245	0.0041	0.0060	0.0088	0.0193	0	0.0015	0	0.0049	0.0018305	283	154602	rs774169916	0.0012	0.0012	0.0013	0.0011	0.0070	0.0012	0.0011	0.0062	0.0059	0.0038	0.0029	5.385e-05	0.0070	8.394e-05	0.0033	0.0007	0.0018	0.0035	0.0024	0.0025	0.0026	0.0018	0.0116	0.0021	0.0020	0.0088	0.0078	0.0039	0	0.0041	0	0.0116	0.0004	0.0046	0.0009	0.0027	0.0021	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1401.29	33	chrX	8795268	.	GCTGCTGCTGCTGCGGCTT	G	1401.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.6;DP=742;ExcessHet=0;FS=6.474;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.97;ReadPosRankSum=1.09;SOR=1.336	GT:AD:DP:GQ:PL	0/1:69,39:108:99:1415,0,2750	18	0	1	0
chrX	8795281	8795281	C	0	exonic	FAM9A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1339.81	33	chrX	8795281	.	C	*	1339.81	.	AC=1;AF=0.026;AN=38;DP=765;ExcessHet=0;FS=6.143;InbreedingCoeff=0.6381;MLEAC=1;MLEAF=0.026;MQ=60;QD=8.93;SOR=1.21	GT:AD:DP:GQ:PL	0/1:69,39:108:99:1415,0,2750	18	0	1	0
chrX	19965287	19965287	G	A	exonic	BCLAF3	.	nonsynonymous SNV	BCLAF3:NM_001367774:exon3:c.C1031T:p.P344L,BCLAF3:NM_198279:exon3:c.C1031T:p.P344L	.	439	1064	12	7	0	26	0.0120706	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	.	0.0024	0.00397351	0.0047	0.0006	0.0004	0	0.0046	0.0036	0.0048	0.0202	0.0045278	700	154602	rs41309605	0.0035	0.0035	0.0032	0.0043	0.0199	0.0034	0.0034	0.0189	0.0185	0.0003	0.0006	0.0002	3.312e-05	0.0032	0.0077	0.0029	0.0038	0.0199	0.0027	0.0027	0.0027	0.0026	0.0164	0.0024	0.0023	0.0124	0.0111	0.0003	0	0.0007	0.0004	0.0003	0.0038	0.0093	0.0040	0.0013	0.0164	0.698	0.04200	T	0.635	0.07105	T	0.025	0.19245	B	0.003	0.10090	B	.	.	.	.	1	0.08975	N	.	.	.	2.52	0.14160	T	-0.95	0.25332	N	0.078	0.05287	-0.9453	0.41764	T	0.015	0.06042	T	8	0.003128618	0.00052	T	.	.	.	0.025	0.05312	.	.	0.043077524339	0.03247	0.016178293913701278	0.01573	0.263161145302	0.28869	.	.	.	0.083584	0.37087	T	-0.82108	0.00005	T	-0.936605	0.00307	T	0.0017359791882067	0.00018	T	0.770523	0.40040	T	0.032626364	0.03325	0.058668874	0.10881	0.032626364	0.03325	0.058668874	0.10881	-3.268	0.13328	T	.	.	0.080	0.07602	B	.;.	.;.	0.915470	0.12898	9.411	0.20265954537931019	0.00721	0.41953	0.26771	N	AEFGBI	.	.	.	.	.	.	.	.	.	0.978670809933628	0.29947	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.39	3.43	0.38372	1.978000	0.40221	4.260000	0.42801	0.654000	0.53741	0.971000	0.34370	0.987000	0.30940	0.812000	0.38265	0.0986:0.1:0.4608:0.3407	3.621	0.07640	67	0.97183	.;.	.	.	.	.	.	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	0.008990	0.000000	0.001855	0.000000	0.000000	0.023529	0.026549	0.021053	0.02632	2211.33	33	chrX	19965287	.	G	A	2211.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.8;DP=821;ExcessHet=0;FS=10.844;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.4;ReadPosRankSum=0.177;SOR=0.808	GT:AD:DP:GQ:PL	0/1:109,85:194:99:2225,0,2663	18	0	1	0
chrX	24364312	24364336	CCTGCTCCTGCTCTAGCTGCTGCTG	0	exonic	SUPT20HL1	.	.	.	.	385	1083	16	7	31	61	0.0136612	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3214	1243.64	146	chrX	24364312	.	CCTGCTCCTGCTCTAGCTGCTGCTG	*	1243.64	.	AC=9;AF=0.321;AN=28;BaseQRankSum=1.99;DP=1570;ExcessHet=0.0012;FS=7.718;InbreedingCoeff=0.3681;MLEAC=11;MLEAF=0.393;MQ=59.79;MQRankSum=0;QD=6.38;ReadPosRankSum=2.49;SOR=1.205	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,18:18:99:1|1:24364308_TG_T:1763,128,0:24364308	9	4	1	5
chrX	27980917	27980917	C	T	exonic	DCAF8L1	.	nonsynonymous SNV	DCAF8L1:NM_001017930:exon1:c.G418A:p.E140K	.	420	1099	3	0	0	3	0.00136302	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.247	.	.	0.00211921	0.0013	0	0.0001	0	0	4.54e-05	0	0.0107	0.0011966	185	154602	rs375220315	0.0004	0.0004	0.0003	0.0007	0.0080	0.0004	0.0004	0.0074	0.0072	0	2.842e-05	0	0	0	0.0012	7.126e-06	0.0005	0.0080	0.0002	0.0002	0.0002	0.0003	0.0086	0.0001	0.0001	0.0059	0.0050	0	0	0	0	0	0	0	0	0	0.0086	0.004	0.65419	D	0.055	0.46862	T	0.64	0.40395	P	0.298	0.40966	B	0.003086	0.35449	N	0.230847	0.993619	0.41996	D	1.905	0.50856	L	-0.45	0.69896	T	-2.03	0.46673	N	0.101	0.08366	-0.7743	0.56620	T	0.201	0.55695	T	10	0.0051589906	0.00112	T	.	.	.	0.247	0.55478	0.433	0.48336	0.506432333661	0.50281	0.3769711342316987	0.37612	0.367369746277	0.38298	0.504510402679	0.39456	T	0.022299	0.17216	T	-0.380287	0.03103	T	-0.312777	0.43360	T	0.0787938482956672	0.09832	T	0.781822	0.41691	T	0.15345761	0.34783	0.1683341	0.38785	0.15345761	0.34783	0.1683341	0.38784	-5.034	0.37207	T	.	.	0.171	0.37615	B	.	.	1.865464	0.23694	16.12	0.99754358777899477	0.84537	0.81384	0.40798	D	AEFBI	.	.	.	.	.	.	.	.	.	0.0552079110836681	0.15006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.842	0.842	0.18064	4.818000	0.62347	1.561000	0.27357	0.328000	0.19510	1.000000	0.71638	0.775000	0.26732	0.063000	0.16184	0.0:0.9999:0.0:1.0E-4	7.276	0.25458	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	0.003446	0.000000	0.001855	0.003953	0.000000	0.011765	0.000000	0.010526	0.02632	2110.33	37	chrX	27980917	.	C	T	2110.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.009;DP=818;ExcessHet=0;FS=1.8;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.41;ReadPosRankSum=-1.075;SOR=0.831	GT:AD:DP:GQ:PL	0/1:100,85:185:99:2124,0,2584	18	0	1	0
chrX	43711977	43711977	G	C	splicing	MAOA	NM_001270458:exon5:c.12+1G>C;NM_000240:exon4:c.411+1G>C	.	.	Brunner syndrome, X-linked recessive	.	.	.	.	.	.	.	0.9999	0.932	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.832e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.736392	0.99964	D	0.82	0.99964	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	5.369539	0.90025	31	0.99460041581299097	0.65736	0.98664	0.85307	D	AEFGBI	.	.	.	.	.	.	.	.	.	0.99999999999883	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	0.958413	0.64584	5.48	5.48	0.80675	8.797000	0.91506	11.725000	0.94886	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.941000	0.48210	0.0:0.0:1.0:0.0	18.419	0.90527	571	0.70397	.;.	.	.	.	.	.	Pathogenic	1	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	.	.	.	.	.	.	.	.	0.1	144.97	97	chrX	43711977	.	G	C	144.97	.	AC=3;AF=0.1;AN=30;BaseQRankSum=-3.222;DP=946;ExcessHet=0.3672;FS=157.29;InbreedingCoeff=-0.1703;MLEAC=4;MLEAF=0.133;MQ=60;MQRankSum=0;QD=0.58;ReadPosRankSum=1.46;SOR=8.229	GT:AD:DP:GQ:PL	0/1:49,21:70:75:75,0,1059	12	0	3	4
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	0.6053	329440.0	742	chrX	55146104	.	G	A	329440.0	.	AC=23;AF=0.605;AN=38;BaseQRankSum=1.47;DP=13074;ExcessHet=20.8569;FS=0;InbreedingCoeff=-0.6522;MLEAC=23;MLEAF=0.605;MQ=60;MQRankSum=0;QD=26.15;ReadPosRankSum=0.694;SOR=0.726	GT:AD:DP:GQ:PL	0/1:138,610:748:99:18364,0,1924	0	4	15	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	248356.0	575	chrX	55146212	.	C	T	248356.0	.	AC=19;AF=0.5;AN=38;BaseQRankSum=2.62;DP=10110;ExcessHet=48.2876;FS=1.42;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=60;MQRankSum=0;QD=26;ReadPosRankSum=1.35;SOR=0.54	GT:AD:DP:GQ:PL	0/1:150,402:573:99:12409,0,2853	0	0	19	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	.	.	.	.	.	.	.	.	0.2778	10743.0	426	chrX	55146242	.	C	T	10743.0	.	AC=10;AF=0.278;AN=36;BaseQRankSum=1.85;DP=7675;ExcessHet=6.9875;FS=0;InbreedingCoeff=-0.3818;MLEAC=10;MLEAF=0.278;MQ=60;MQRankSum=0;QD=2.82;ReadPosRankSum=-0.553;SOR=0.701	GT:AD:DP:GQ:PL	0/1:405,56:461:99:530,0,14718	8	0	10	1
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	119400.0	395	chrX	55146254	.	T	C	119400.0	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-1.566;DP=7115;ExcessHet=48.2876;FS=6.049;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.09;ReadPosRankSum=-1.393;SOR=0.475	GT:AD:DP:GQ:PL	0/1:142,262:404:99:8686,0,3235	0	0	19	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	119815.0	315	chrX	55146275	.	T	G	119815.0	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-0.969;DP=5611;ExcessHet=48.2876;FS=13.766;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=60;MQRankSum=0;QD=23.27;ReadPosRankSum=-3.985;SOR=0.493	GT:AD:DP:GQ:PL	0/1:129,205:334:99:6807,0,2928	0	0	19	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	.	.	.	.	.	.	.	.	0.2647	7637.88	285	chrX	55146283	.	C	T	7637.88	.	AC=9;AF=0.265;AN=34;BaseQRankSum=-0.157;DP=4808;ExcessHet=5.3738;FS=4.353;InbreedingCoeff=-0.3572;MLEAC=10;MLEAF=0.294;MQ=60;MQRankSum=0;QD=3.68;ReadPosRankSum=-1.518;SOR=1.047	GT:AD:DP:GQ:PL	0/1:232,56:288:99:943,0,8293	8	0	9	2
chrX	57592628	57592628	G	C	exonic	ZXDB	.	nonsynonymous SNV	ZXDB:NM_007157:exon1:c.G580C:p.A194P	.	435	1083	2	2	0	6	0.00276243	.	.	.	2354554	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.039	0.0113321553905	.	.	0.0002	0	0	0.0002	0	0.0003	0	0.0002	3.84e-05	1	26028	rs755984135	5.928e-05	7.466e-05	7.426e-05	2.838e-05	0.0021	4.75e-05	4.323e-05	0.0009	0.0006	4.142e-05	2.966e-05	0	0	0	0.0021	5.507e-05	8.861e-05	0.0001	0.0002	0.0002	0.0002	2.853e-05	0.0003	0.0001	9.774e-05	0.0002	0.0002	0	0	0.0003	0	0	0	0	0.0003	0.0007	0	0.006	0.61437	D	0.056	0.46632	T	0.001	0.07471	B	0.002	0.06944	B	0.251731	0.15495	N	0.604051	1	0.08975	N	2.075	0.57047	M	2.44	0.15145	T	-0.71	0.20145	N	0.06	0.03175	-1.0190	0.24041	T	0.028	0.12103	T	10	0.050064564	0.04685	T	0.011332	0.28845	T	0.039	0.10176	.	.	0.043077524339	0.03247	0.19807981928436727	0.19724	1.34215045495	0.83876	0.749926567078	0.74435	T	0.009987	0.09054	T	-0.679005	0.00049	T	-0.938821	0.00299	T	0.0231547097963505	0.01041	T	0.535446	0.17943	T	0.15885916	0.35717	0.17926948	0.40650	0.15885916	0.35716	0.17926948	0.40650	-2.761	0.07830	T	.	.	0.074	0.04975	B	.	.	0.524247	0.08927	5.711	0.8199396566217203	0.13964	0.12919	0.17558	N	AEFDGBHCI	.	.	.	.	.	.	.	.	.	0.99999971469044	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.38	-0.699	0.10709	-0.058000	0.11707	1.371000	0.25957	-0.205000	0.08568	0.000000	0.06391	0.342000	0.24428	0.024000	0.12247	0.1186:0.0:0.5612:0.3201	5.879	0.18091	434	0.80536	.	.	.	.	.	.	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	0.001380	0.000000	0.001855	0.003953	0.000000	0.000000	0.000000	0.000000	0.02632	1459.33	38	chrX	57592628	.	G	C	1459.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.336;DP=1116;ExcessHet=0;FS=4.137;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=52.82;MQRankSum=0.466;QD=10.28;ReadPosRankSum=1.17;SOR=0.431	GT:AD:DP:GQ:PL	0/1:83,59:142:99:1473,0,2163	18	0	1	0
chrX	107603267	107603267	A	G	exonic	FRMPD3	.	nonsynonymous SNV	FRMPD3:NM_032428:exon16:c.A5327G:p.Q1776R	.	419	1102	1	0	0	1	0.000453515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.00613881066398	.	.	0.0003	0	0	0	0	0	0.0069	0.0005	4.53e-05	7	154602	rs781343440	3.512e-05	3.369e-05	1.411e-05	7.833e-05	0.0006	2.591e-05	2.262e-05	0.0004	0.0004	0	0	0	0	0	0.0005	0	9.013e-05	0.0006	3.515e-05	4.345e-05	0	0.0001	0.0014	1.121e-05	6.53e-06	0.0005	0.0003	0	0	0	0	0	0	0	0	0	0.0014	0.0	0.91255	D	0.01	0.66756	D	.	.	.	.	.	.	0.000059	0.00414	U	574.344000	0.999997	0.08975	N	0.895	0.22405	L	0.98	0.42122	T	-0.13	0.08971	N	0.092	0.07125	-1.0169	0.24722	T	0.062	0.25780	T	8	0.049156427	0.04465	T	0.006139	0.16082	T	0.072	0.21020	0.16	0.06396	0.428492896387	0.42465	0.4165372304185736	0.41569	0.119126602594	0.13412	.	.	.	0.001738	0.06148	T	-0.264789	0.12344	T	-0.618128	0.11331	T	0.112974512171542	0.13729	T	0.432057	0.11757	T	0.30421612	0.53280	0.26090363	0.51860	0.30421612	0.53280	0.26090363	0.51860	-5.815	0.44705	T	.	.	0.098	0.17530	B	.;.	.;.	1.672161	0.21320	15.15	0.98682579130502635	0.44638	0.82813	0.41991	D	AEFBHCI	.	.	.	.	.	.	.	.	.	0.984275482092235	0.30691	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.21	1.91	0.24841	0.926000	0.28405	-0.066000	0.12360	0.736000	0.85976	0.991000	0.37257	0.951000	0.29025	0.995000	0.73285	0.7293:0.2707:0.0:0.0	5.776	0.17547	26	0.98304	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1745.33	36	chrX	107603267	.	A	G	1745.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.103;DP=860;ExcessHet=0;FS=1.359;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.74;ReadPosRankSum=1.41;SOR=0.543	GT:AD:DP:GQ:PL	0/1:63,74:137:99:1759,0,1671	18	0	1	0
chrX	108180571	108180571	C	T	exonic	COL4A6	.	nonsynonymous SNV	COL4A6:NM_001287759:exon25:c.G2075A:p.S692N,COL4A6:NM_001287760:exon25:c.G2075A:p.S692N,COL4A6:NM_001847:exon25:c.G2078A:p.S693N,COL4A6:NM_033641:exon25:c.G2075A:p.S692N,COL4A6:NM_001287758:exon26:c.G2126A:p.S709N	.	0	1519	3	0	0	3	0.000986518	.	.	.	2883341	not_specified|COL4A6-related_disorder|not_provided	MedGen:CN169374|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.309	0.0658814491603	.	0.000529801	0.0003	0	0.0001	0	0	0	0.0018	0.0025	0.0002717	42	154602	rs767702464	0.0001	0.0001	7.358e-05	0.0002	0.0021	0.0001	9.399e-05	0.0018	0.0016	0	0	0	0	0	0.0007	3.567e-06	0.0003	0.0021	8.011e-05	7.828e-05	7.709e-05	8.692e-05	0.0034	4.16e-05	3.121e-05	0.0018	0.0013	0	0	0	0	0	0	0	0	0	0.0034	0.499	0.07772	T	0.529	0.10465	T	0.866	0.57185	P	0.56	0.62632	P	0.545252	0.05337	N	1.282630	1	0.08975	N	0.38	0.12130	N	-3.24	0.93474	D	0.18	0.05405	N	0.094	0.11769	-0.0170	0.81901	T	0.731	0.90797	D	10	0.019208223	0.00426	T	0.065881	0.69711	D	0.309	0.63055	0.375	0.38830	0.721623398466	0.71916	0.042782885898193554	0.04223	0.26402591037	0.28955	0.274437248707	0.06728	T	0.274158	0.64664	T	-0.602142	0.00141	T	-0.644187	0.09366	T	0.0649606020987946	0.07925	T	0.752925	0.40135	T	0.054772984	0.10556	0.096958965	0.23058	0.054772984	0.10555	0.096958965	0.23058	-4.87	0.35453	T	.	.	0.071	0.06387	B	.;.;.;.;.;.	.;.;.;.;.;.	-2.893195	0.00013	0.001	0.67972836734700004	0.08516	0.00457	0.02207	N	AEFGBI	.	.	.	.	.	.	.	.	.	0.99999272070969	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.16	-6.82	0.01537	-2.735000	0.00873	-14.122000	0.00420	-0.831000	0.02872	0.000000	0.06391	0.000000	0.08366	0.096000	0.18090	0.0:0.1032:0.0929:0.8039	15.020	0.71282	99	0.95913	.;.;.;.;.;.	.	.	.	.	.	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	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1191.33	40	chrX	108180571	.	C	T	1191.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.651;DP=770;ExcessHet=0;FS=0.755;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.41;ReadPosRankSum=0.995;SOR=0.607	GT:AD:DP:GQ:PL	0/1:45,51:96:99:1205,0,1100	18	0	1	0
chrX	119470513	119470513	-	CTGACCTCATGTACACAGGCATGCTTGACT	exonic	SLC25A5	.	nonframeshift insertion	SLC25A5:NM_001152:exon3:c.739_740insCTGACCTCATGTACACAGGCATGCTTGACT:p.D248_I249insLMYTGMLDSD	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1375901063	8.27e-06	0.0004	1.232e-05	0	6.745e-05	3.89e-06	2.82e-06	1.117e-05	4.18e-06	0	5.776e-05	0	6.745e-05	0	0	4.783e-06	0	1.887e-05	0.0001	0.0023	0.0002	0	0.0002	8.378e-05	6.778e-05	7.562e-05	5.535e-05	0.0001	0	9.542e-05	0.0008	0	0	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	88.29	85	chrX	119470513	.	A	ACTGACCTCATGTACACAGGCATGCTTGACT	88.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.612;DP=1412;ExcessHet=0;FS=6.131;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.75;MQRankSum=-8.99;QD=0.64;ReadPosRankSum=-2.886;SOR=1.585	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:125,13:138:99:0|1:119470504_C_T:102,0,5121:119470504	18	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	.	.	.	.	.	.	.	.	0.4474	1139.66	111	chrX	135580144	.	G	C	1139.66	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-0.835;DP=1343;ExcessHet=31.086;FS=227.944;InbreedingCoeff=-0.8004;MLEAC=17;MLEAF=0.447;MQ=60;MQRankSum=0;QD=1.05;ReadPosRankSum=0.257;SOR=12.389	GT:AD:DP:GQ:PL	0/1:52,40:103:99:160,0,670	2	0	17	0
chrX	150512573	150512573	C	A	exonic	MAMLD1	.	nonsynonymous SNV	MAMLD1:NM_001177465:exon5:c.C2497A:p.Q833K	Hypospadias 2, X-linked, X-linked recessive	1	1509	8	4	0	16	0.00527357	.	.	.	3195431	MAMLD1-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.028	.	.	.	0.0031	0	0.016	0	0	0.0047	0	0.0020	0.000304	47	154602	rs782701412	0.0006	0.0006	0.0006	0.0007	0.0013	0.0006	0.0006	0.0010	0.0009	0.0002	0.0006	0.0075	0	0	0.0012	0.0004	0.0010	0.0013	0.0005	0.0005	0.0004	0.0005	0.0005	0.0004	0.0003	0.0004	0.0003	6.443e-05	0	0.0004	0.0068	0	0	0	0.0005	0	0	0.606	0.05534	T	0.514	0.10678	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	0.02	0.62318	T	-0.27	0.11366	N	0.027	0.00571	-1.0309	0.20163	T	0.084	0.32872	T	9	0.003766954	0.00070	T	.	.	.	0.028	0.06331	0.229	0.15556	0.082315109003	0.07666	0.364767780560659	0.36390	0.222365750283	0.24767	0.327036798	0.14487	T	.	.	.	-0.758206	0.00016	T	-0.897265	0.00522	T	0.00194596871733665	0.00020	T	0.19768	0.02201	T	.	.	.	.	.	.	.	.	-4.071	0.24861	T	.	.	0.084	0.09627	B	.	.	-0.890348	0.00941	0.036	0.42201352275161935	0.03095	0.01390	0.04723	N	AEFBI	.	.	.	.	.	.	.	.	.	0.988379767975744	0.31495	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.49	0.136	0.14079	-0.383000	0.07456	-2.561000	0.03607	-2.761000	0.00195	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1662:0.3424:0.3244:0.1669	1.712	0.02718	789	0.46346	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	1	0	0.001862	0.000000	0.000000	0.000000	0.000000	0.000000	0.010870	0.000000	0.02632	2382.33	41	chrX	150512573	.	C	A	2382.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.341;DP=867;ExcessHet=0;FS=0.536;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.67;ReadPosRankSum=-0.457;SOR=0.778	GT:AD:DP:GQ:PL	0/1:93,95:188:99:2396,0,2362	18	0	1	0
chrX	150693659	150693659	C	A	exonic	MTMR1	.	nonsynonymous SNV	MTMR1:NM_001306144:exon1:c.C129A:p.S43R,MTMR1:NM_001306145:exon1:c.C129A:p.S43R,MTMR1:NM_001353990:exon1:c.C129A:p.S43R,MTMR1:NM_003828:exon1:c.C129A:p.S43R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.561	0.984523236155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.088e-06	7.284e-06	4.417e-06	0	3.389e-06	5.1e-07	1.9e-07	5.6e-07	2.1e-07	0	0	0	0	0	0	3.389e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.78490	D	0.007	0.74150	D	0.872	0.55135	P	0.266	0.50503	B	0.020994	0.26923	N	0.414407	0.951316	0.81001	D	1.995	0.54099	M	-3.75	0.95528	D	-0.59	0.25986	N	0.224	0.34767	0.486	0.90355	D	0.825	0.94132	D	10	0.41905907	0.56739	T	0.984523	0.99926	D	0.561	0.82003	0.198	0.11110	0.923479422052	0.92270	0.4452752999172939	0.44445	.	.	0.894959211349	0.95862	D	0.335876	0.70545	T	0.219868	0.75763	D	0.0780484	0.75448	D	0.690209865570068	0.40257	D	0.693531	0.46458	T	0.3709941	0.58659	0.28988394	0.55009	0.3709941	0.58659	0.28988394	0.55009	-6.678	0.51644	T	.	.	0.802	0.84333	P	.;.;.;.	.;.;.;.	3.673619	0.52256	23.2	0.9925054927144803	0.56858	0.32114	0.24506	N	AEFBHCJ	.	.	.	.	.	.	.	.	.	0.999992512014985	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.71	0.825	0.17962	1.560000	0.35939	3.214000	0.36817	0.441000	0.21086	1.000000	0.71638	0.999000	0.35428	0.997000	0.79791	0.0:0.6906:0.0:0.3094	8.115	0.30100	900	0.24599	.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05882	31.69	7	chrX	150693659	.	C	A	31.69	.	AC=2;AF=0.059;AN=34;DP=79;ExcessHet=0;FS=0;InbreedingCoeff=0.4008;MLEAC=1;MLEAF=0.029;MQ=60;QD=15.85;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	16	1	0	2
chrX	151676000	151676000	C	T	exonic	PASD1	.	stopgain	PASD1:NM_173493:exon16:c.C2179T:p.Q727X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.998477	0.44966	D	.	.	.	.	.	.	.	.	.	0.015	0.00181	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.311787	0.83879	D	0.210084	0.83669	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	5.091605	0.85029	28.5	0.91422688180866363	0.20691	0.03183	0.08166	N	AEFBI	.	.	.	.	.	.	.	.	.	0.00906445843081722	0.11790	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.12	-1.01	0.09650	-0.610000	0.05724	-0.430000	0.09227	-0.224000	0.07868	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.3179:0.5571:0.125	6.477	0.21238	821	0.40814	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	880.33	34	chrX	151676000	.	C	T	880.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.128;DP=708;ExcessHet=0;FS=1.706;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.55;ReadPosRankSum=-0.409;SOR=0.489	GT:AD:DP:GQ:PL	0/1:61,42:103:99:894,0,1624	18	0	1	0
chrX	153694771	153694771	C	G	exonic	SLC6A8	.	nonsynonymous SNV	SLC6A8:NM_001142805:exon12:c.C1619G:p.T540S,SLC6A8:NM_001142806:exon12:c.C1304G:p.T435S,SLC6A8:NM_005629:exon12:c.C1649G:p.T550S	Cerebral creatine deficiency syndrome 1, X-linked recessive	7	1502	10	3	0	16	0.00529801	.	.	.	215616	SLC6A8-related_disorder|Creatine_transporter_deficiency|not_provided|not_specified|Inborn_genetic_diseases	.|MONDO:MONDO:0010305,MedGen:C1845862,OMIM:300352,Orphanet:52503|MedGen:C3661900|MedGen:CN169374|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.101	0.136055498162	9.5e-05	.	0.0002	0	0.0001	0	0	0.0003	0.0017	0.0003	0.0002199	34	154602	rs199635059	0.0003	0.0003	0.0003	0.0004	0.0079	0.0003	0.0003	0.0057	0.0049	0.0006	0.0002	0	0	0	0.0079	0.0003	0.0007	0.0005	0.0004	0.0004	0.0003	0.0005	0.0012	0.0003	0.0002	0.0007	0.0006	0.0001	0	0.0012	0	0	0	0.0091	0.0004	0	0.0004	0.452	0.10020	T	0.619	0.07468	T	0.016	0.17332	B	0.034	0.22546	B	0.018669	0.27430	U	0.303685	0.991072	0.24085	N	0.24	0.09707	N	-0.85	0.74371	T	-1.56	0.39119	N	0.095	0.12484	-0.9984	0.30367	T	0.177	0.52162	T	10	0.07418674	0.11309	T	0.136055	0.81853	D	0.101	0.28911	0.28	0.23483	0.302481332339	0.29867	0.39173456452257077	0.39088	0.144365782455	0.16299	0.421785235405	0.28083	T	0.197358	0.55401	T	-0.530226	0.00383	T	-0.643032	0.09451	T	0.00469183185235817	0.00050	T	0.680032	0.28847	T	0.17615359	0.38513	0.15127644	0.35641	0.23499635	0.46328	0.18400282	0.41425	-6.232	0.48181	T	0.11622344083975633	0.10484	0.084	0.11989	B	.;.	.;.	2.342762	0.30025	18.31	0.94667481857217584	0.25288	0.83818	0.42913	D	AEFDBCI	.	.	.	.	.	.	.	.	.	0.999999202858882	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.9	3.97	0.45241	0.340000	0.19634	.	.	0.573000	0.29008	0.043000	0.21118	1.000000	0.68203	0.882000	0.42233	0.0:0.5888:0.4112:0.0	10.922	0.46383	23	0.98420	.;.	.	.	.	.	.	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	1	0	0.014174	0.006849	0.014898	0.039130	0.000000	0.011765	0.004566	0.000000	0.02632	1234.33	42	chrX	153694771	.	C	G	1234.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.244;DP=761;ExcessHet=0;FS=3.72;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.1;ReadPosRankSum=-1.044;SOR=0.402	GT:AD:DP:GQ:PL	0/1:47,55:102:99:1248,0,1060	18	0	1	0